Fulgent Genetics (Fulgent Genetics)
General information
Fulgent Genetics
Fulgent Genetics
4399 Santa Anita Ave.
El Monte
California
United States - 91731
https://FulgentGenetics.com/
Organization ID: 500105
Fulgent Genetics
4399 Santa Anita Ave.
El Monte
California
United States - 91731
https://FulgentGenetics.com/
Organization ID: 500105
Personnel
- Harry Gao, Lab Director
Phone: (626) 350-0537
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 47422
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| A2ML1 | 21 | Dec 13, 2022 |
| A2ML1-AS1 | 5 | Dec 13, 2022 |
| AAAS | 5 | Dec 13, 2022 |
| AAGAB | 1 | Dec 13, 2022 |
| AARS1 | 9 | Dec 13, 2022 |
| AARS2 | 3 | Dec 13, 2022 |
| AASS | 2 | Dec 13, 2022 |
| ABAT | 6 | Dec 13, 2022 |
| ABCA1 | 5 | Dec 13, 2022 |
| ABCA12 | 7 | Dec 13, 2022 |
| ABCA2 | 1 | Dec 13, 2022 |
| ABCA3 | 10 | Dec 13, 2022 |
| ABCA4 | 63 | Dec 13, 2022 |
| ABCA7 | 2 | Dec 13, 2022 |
| ABCB11 | 22 | Dec 13, 2022 |
| ABCB4 | 5 | Dec 13, 2022 |
| ABCB6 | 3 | Dec 13, 2022 |
| ABCB7 | 2 | Dec 13, 2022 |
| ABCC2 | 11 | Dec 13, 2022 |
| ABCC6 | 205 | Dec 13, 2022 |
| ABCC8 | 124 | Dec 13, 2022 |
| ABCC9 | 46 | Dec 13, 2022 |
| ABCD1 | 12 | Dec 13, 2022 |
| ABCD4 | 5 | Dec 13, 2022 |
| ABCG2 | 1 | Dec 13, 2022 |
| ABCG5 | 12 | Dec 13, 2022 |
| ABCG8 | 19 | Dec 13, 2022 |
| ABHD12 | 1 | Dec 13, 2022 |
| ABHD14A-ACY1 | 5 | Dec 13, 2022 |
| ABI1 | 1 | Dec 13, 2022 |
| ABL1 | 5 | Dec 13, 2022 |
| ACAD8 | 2 | Dec 13, 2022 |
| ACAD9 | 14 | Dec 13, 2022 |
| ACADM | 22 | Dec 13, 2022 |
| ACADS | 17 | Dec 13, 2022 |
| ACADSB | 5 | Dec 13, 2022 |
| ACADVL | 30 | Dec 13, 2022 |
| ACAN | 5 | Dec 13, 2022 |
| ACAT1 | 17 | Dec 13, 2022 |
| ACBD6 | 1 | Dec 13, 2022 |
| ACD | 3 | Dec 13, 2022 |
| ACE | 58 | Dec 13, 2022 |
| ACO2 | 7 | Dec 13, 2022 |
| ACOX1 | 3 | Dec 13, 2022 |
| ACOX2 | 1 | Dec 13, 2022 |
| ACP4 | 1 | Dec 13, 2022 |
| ACP5 | 2 | Dec 13, 2022 |
| ACSF3 | 26 | Dec 13, 2022 |
| ACSL4 | 3 | Dec 13, 2022 |
| ACTA1 | 2 | Dec 13, 2022 |
| ACTA2 | 10 | Dec 13, 2022 |
| ACTA2-AS1 | 3 | Dec 13, 2022 |
| ACTB | 29 | Dec 13, 2022 |
| ACTC1 | 13 | Dec 13, 2022 |
| ACTG1 | 5 | Dec 13, 2022 |
| ACTG2 | 4 | Dec 13, 2022 |
| ACTN1 | 1 | Dec 13, 2022 |
| ACTN2 | 85 | Dec 13, 2022 |
| ACTN4 | 46 | Dec 13, 2022 |
| ACVR1 | 1 | Nov 14, 2018 |
| ACVR2B | 1 | Dec 13, 2022 |
| ACVRL1 | 29 | Dec 13, 2022 |
| ACY1 | 5 | Dec 13, 2022 |
| ACYP1 | 1 | Dec 13, 2022 |
| ADA | 14 | Dec 13, 2022 |
| ADA2 | 73 | Dec 13, 2022 |
| ADAM10 | 1 | Dec 13, 2022 |
| ADAM17 | 3 | Dec 13, 2022 |
| ADAM22 | 1 | Dec 13, 2022 |
| ADAMTS10 | 2 | Dec 13, 2022 |
| ADAMTS13 | 48 | Dec 13, 2022 |
| ADAMTS17 | 1 | Dec 13, 2022 |
| ADAMTS18 | 1 | Dec 13, 2022 |
| ADAMTS2 | 23 | Dec 13, 2022 |
| ADAMTS3 | 1 | Dec 13, 2022 |
| ADAMTSL2 | 3 | Dec 13, 2022 |
| ADAMTSL4 | 3 | Dec 13, 2022 |
| ADAMTSL4-AS2 | 1 | Dec 13, 2022 |
| ADAR | 12 | Dec 13, 2022 |
| ADCY1 | 1 | Dec 13, 2022 |
| ADCY10 | 42 | Dec 13, 2022 |
| ADCY5 | 7 | Dec 13, 2022 |
| ADGRE2 | 1 | Dec 13, 2022 |
| ADGRG1 | 6 | Dec 13, 2022 |
| ADGRG6 | 1 | Dec 13, 2022 |
| ADGRV1 | 96 | Dec 13, 2022 |
| ADK | 1 | Dec 13, 2022 |
| ADNP | 9 | Dec 13, 2022 |
| ADNP-AS1 | 1 | Dec 13, 2022 |
| ADRB3 | 2 | Dec 13, 2022 |
| ADSL | 12 | Dec 13, 2022 |
| ADSS1 | 1 | Dec 13, 2022 |
| AEBP1 | 1 | Dec 13, 2022 |
| AFF2 | 3 | Dec 13, 2022 |
| AFF3 | 1 | Dec 13, 2022 |
| AFF4 | 4 | Dec 13, 2022 |
| AFG2A | 11 | Dec 13, 2022 |
| AFG3L2 | 2 | Dec 13, 2022 |
| AGA | 12 | Dec 13, 2022 |
| AGA-DT | 1 | Dec 13, 2022 |
| AGBL5 | 2 | Dec 13, 2022 |
| AGK | 1 | Dec 13, 2022 |
| AGL | 114 | Dec 13, 2022 |
| AGPAT2 | 30 | Dec 13, 2022 |
| AGPS | 2 | Dec 13, 2022 |
| AGRN | 8 | Dec 13, 2022 |
| AGRP | 1 | Dec 13, 2022 |
| AGT | 25 | Dec 13, 2022 |
| AGTR1 | 9 | Dec 13, 2022 |
| AGXT | 71 | Dec 13, 2022 |
| AHCY | 3 | Dec 13, 2022 |
| AHDC1 | 3 | Dec 13, 2022 |
| AHI1 | 123 | Dec 13, 2022 |
| AICDA | 1 | Dec 13, 2022 |
| AIFM1 | 7 | Dec 13, 2022 |
| AIMP2 | 1 | Dec 13, 2022 |
| AIP | 5 | Dec 13, 2022 |
| AIPL1 | 13 | Dec 13, 2022 |
| AIRE | 29 | Dec 13, 2022 |
| AK2 | 3 | Dec 13, 2022 |
| AKAP9 | 160 | Dec 13, 2022 |
| AKR1D1 | 1 | Dec 13, 2022 |
| AKT1 | 1 | Dec 13, 2022 |
| AKT2 | 1 | Dec 13, 2022 |
| AKT3 | 3 | Dec 13, 2022 |
| ALAD | 1 | Dec 13, 2022 |
| ALDH18A1 | 4 | Dec 13, 2022 |
| ALDH1A3 | 1 | Dec 13, 2022 |
| ALDH2 | 1 | Dec 13, 2022 |
| ALDH3A2 | 6 | Dec 13, 2022 |
| ALDH4A1 | 7 | Dec 13, 2022 |
| ALDH5A1 | 11 | Dec 13, 2022 |
| ALDH6A1 | 5 | Dec 13, 2022 |
| ALDH7A1 | 7 | Dec 13, 2022 |
| ALDOB | 17 | Dec 13, 2022 |
| ALG1 | 88 | Dec 13, 2022 |
| ALG11 | 1 | Dec 13, 2022 |
| ALG12 | 3 | Dec 13, 2022 |
| ALG13 | 79 | Dec 13, 2022 |
| ALG14 | 1 | Dec 13, 2022 |
| ALG2 | 8 | Dec 13, 2022 |
| ALG3 | 1 | Dec 13, 2022 |
| ALG6 | 12 | Dec 13, 2022 |
| ALG8 | 32 | Dec 13, 2022 |
| ALG9 | 17 | Dec 13, 2022 |
| ALK | 20 | Dec 13, 2022 |
| ALKBH8 | 1 | Dec 13, 2022 |
| ALMS1 | 559 | Dec 13, 2022 |
| ALPL | 82 | Dec 13, 2022 |
| ALS2 | 8 | Dec 13, 2022 |
| ALX4 | 2 | Dec 13, 2022 |
| AMACR | 5 | Dec 13, 2022 |
| AMER1 | 3 | Dec 13, 2022 |
| AMH | 4 | Dec 13, 2022 |
| AMHR2 | 1 | Dec 13, 2022 |
| AMN | 39 | Dec 13, 2022 |
| AMPD1 | 2 | Nov 14, 2018 |
| AMPD2 | 1 | Dec 13, 2022 |
| AMPD3 | 4 | Dec 13, 2022 |
| AMT | 16 | Dec 13, 2022 |
| ANAPC1 | 1 | Dec 13, 2022 |
| ANGPT2 | 1 | Dec 13, 2022 |
| ANK1 | 5 | Dec 13, 2022 |
| ANK2 | 205 | Dec 13, 2022 |
| ANK3 | 25 | Dec 13, 2022 |
| ANKH | 3 | Dec 13, 2022 |
| ANKRD11 | 17 | Dec 13, 2022 |
| ANKRD26 | 4 | Dec 13, 2022 |
| ANKS6 | 59 | Dec 13, 2022 |
| ANLN | 8 | Dec 13, 2022 |
| ANO10 | 3 | Dec 13, 2022 |
| ANO3 | 1 | Nov 14, 2018 |
| ANO5 | 11 | Dec 13, 2022 |
| ANOS1 | 12 | Dec 13, 2022 |
| ANTXR2 | 2 | Dec 13, 2022 |
| AOPEP | 73 | Dec 13, 2022 |
| AP1S1 | 1 | Dec 13, 2022 |
| AP1S3 | 1 | Dec 13, 2022 |
| AP2S1 | 7 | Dec 13, 2022 |
| AP3B1 | 13 | Dec 13, 2022 |
| AP3B2 | 2 | Dec 13, 2022 |
| AP3D1 | 5 | Dec 13, 2022 |
| AP3M1 | 2 | Dec 13, 2022 |
| AP4B1 | 3 | Dec 13, 2022 |
| AP4B1-AS1 | 1 | Nov 14, 2018 |
| AP4E1 | 5 | Dec 13, 2022 |
| AP4M1 | 5 | Dec 13, 2022 |
| AP4S1 | 2 | Dec 13, 2022 |
| AP5Z1 | 3 | Dec 13, 2022 |
| APC | 93 | Dec 13, 2022 |
| APC2 | 1 | Nov 14, 2018 |
| APOA1 | 15 | Dec 13, 2022 |
| APOA1-AS | 12 | Dec 13, 2022 |
| APOA5 | 2 | Dec 13, 2022 |
| APOB | 247 | Dec 13, 2022 |
| APOB3'MAR | 4 | Dec 13, 2022 |
| APOC2 | 3 | Dec 13, 2022 |
| APOC4-APOC2 | 3 | Dec 13, 2022 |
| APOE | 7 | Dec 13, 2022 |
| APOL1 | 16 | Dec 13, 2022 |
| APP | 10 | Dec 13, 2022 |
| APPL1 | 3 | Dec 13, 2022 |
| APRT | 15 | Dec 13, 2022 |
| APTX | 2 | Dec 13, 2022 |
| AQP2 | 13 | Dec 13, 2022 |
| AQP5-AS1 | 6 | Dec 13, 2022 |
| AR | 12 | Dec 13, 2022 |
| ARCN1 | 1 | Dec 13, 2022 |
| ARFGEF1 | 1 | Dec 13, 2022 |
| ARFGEF1-DT | 4 | Dec 13, 2022 |
| ARFGEF2 | 1 | Nov 14, 2018 |
| ARG1 | 7 | Dec 13, 2022 |
| ARHGAP31 | 1 | Dec 13, 2022 |
| ARHGDIA | 1 | Dec 13, 2022 |
| ARHGEF18 | 2 | Dec 13, 2022 |
| ARHGEF2 | 1 | Dec 13, 2022 |
| ARHGEF9 | 2 | Dec 13, 2022 |
| ARID1A | 5 | Dec 13, 2022 |
| ARID1B | 16 | Dec 13, 2022 |
| ARID2 | 4 | Dec 13, 2022 |
| ARL13B | 8 | Dec 13, 2022 |
| ARL3 | 1 | Dec 13, 2022 |
| ARL6 | 6 | Dec 13, 2022 |
| ARMC5 | 3 | Dec 13, 2022 |
| ARNT2 | 3 | Dec 13, 2022 |
| ARSA | 33 | Dec 13, 2022 |
| ARSB | 16 | Dec 13, 2022 |
| ARSG | 1 | Dec 13, 2022 |
| ARSL | 1 | Dec 13, 2022 |
| ARX | 8 | Dec 13, 2022 |
| ASAH1 | 15 | Dec 13, 2022 |
| ASB10 | 1 | Dec 13, 2022 |
| ASCL1 | 1 | Dec 13, 2022 |
| ASH1L | 2 | Dec 13, 2022 |
| ASIC4-AS1 | 8 | Dec 13, 2022 |
| ASL | 16 | Dec 13, 2022 |
| ASNS | 6 | Dec 13, 2022 |
| ASPA | 11 | Dec 13, 2022 |
| ASPM | 42 | Dec 13, 2022 |
| ASS1 | 18 | Dec 13, 2022 |
| ASTN2 | 85 | Dec 13, 2022 |
| ASXL1 | 7 | Dec 13, 2022 |
| ASXL2 | 1 | Dec 13, 2022 |
| ASXL3 | 6 | Dec 13, 2022 |
| ATAD1 | 1 | Dec 13, 2022 |
| ATAD3A | 10 | Dec 13, 2022 |
| ATIC | 12 | Dec 13, 2022 |
| ATL1 | 5 | Dec 13, 2022 |
| ATM | 230 | Dec 13, 2022 |
| ATN1 | 3 | Dec 13, 2022 |
| ATP13A2 | 39 | Dec 13, 2022 |
| ATP1A2 | 16 | Dec 13, 2022 |
| ATP1A3 | 19 | Dec 13, 2022 |
| ATP2A1 | 1 | Dec 13, 2022 |
| ATP2A2 | 4 | Dec 13, 2022 |
| ATP2B3 | 1 | Dec 13, 2022 |
| ATP6AP2 | 2 | Dec 13, 2022 |
| ATP6V0A2 | 16 | Dec 13, 2022 |
| ATP6V0A4 | 40 | Dec 13, 2022 |
| ATP6V0D1-DT | 1 | Dec 13, 2022 |
| ATP6V1A | 1 | Dec 13, 2022 |
| ATP6V1B1 | 55 | Dec 13, 2022 |
| ATP6V1B1-AS1 | 2 | Dec 13, 2022 |
| ATP7A | 10 | Dec 13, 2022 |
| ATP7B | 179 | Dec 13, 2022 |
| ATP8B1 | 6 | Dec 13, 2022 |
| ATP8B1-AS1 | 3 | Dec 13, 2022 |
| ATPAF2 | 2 | Dec 13, 2022 |
| ATR | 11 | Dec 13, 2022 |
| ATRIP | 9 | Dec 13, 2022 |
| ATRIP-TREX1 | 9 | Dec 13, 2022 |
| ATRX | 13 | Dec 13, 2022 |
| ATXN10 | 1 | Dec 13, 2022 |
| AUH | 7 | Dec 13, 2022 |
| AURKC | 1 | Dec 13, 2022 |
| AUTS2 | 6 | Dec 13, 2022 |
| AVP | 6 | Dec 13, 2022 |
| AVPR2 | 18 | Dec 13, 2022 |
| AXDND1 | 8 | Dec 13, 2022 |
| AXIN1 | 2 | Dec 13, 2022 |
| AXIN2 | 26 | Dec 13, 2022 |
| AXL | 2 | Dec 13, 2022 |
| B2M | 6 | Dec 13, 2022 |
| B3GALNT2 | 2 | Nov 14, 2018 |
| B3GALT6 | 3 | Dec 13, 2022 |
| B3GAT3 | 3 | Dec 13, 2022 |
| B3GLCT | 2 | Dec 13, 2022 |
| B4GALT1 | 2 | Dec 13, 2022 |
| B4GALT7 | 3 | Dec 13, 2022 |
| B4GAT1 | 1 | Nov 14, 2018 |
| B9D2 | 1 | Dec 13, 2022 |
| BAAT | 2 | Dec 13, 2022 |
| BACH2 | 2 | Dec 13, 2022 |
| BAG3 | 62 | Dec 13, 2022 |
| BAP1 | 17 | Dec 13, 2022 |
| BARD1 | 37 | Dec 13, 2022 |
| BBIP1 | 15 | Dec 13, 2022 |
| BBOF1 | 5 | Dec 13, 2022 |
| BBS1 | 94 | Dec 13, 2022 |
| BBS10 | 69 | Dec 13, 2022 |
| BBS12 | 72 | Dec 13, 2022 |
| BBS2 | 100 | Dec 13, 2022 |
| BBS4 | 60 | Dec 13, 2022 |
| BBS5 | 30 | Dec 13, 2022 |
| BBS7 | 61 | Dec 13, 2022 |
| BBS9 | 110 | Dec 13, 2022 |
| BCAM | 1 | Dec 13, 2022 |
| BCHE | 6 | Dec 13, 2022 |
| BCKDHA | 22 | Dec 13, 2022 |
| BCKDHB | 8 | Dec 13, 2022 |
| BCKDK | 2 | Dec 13, 2022 |
| BCL10 | 1 | Dec 13, 2022 |
| BCL11A | 1 | Dec 13, 2022 |
| BCL2L2-PABPN1 | 1 | Dec 13, 2022 |
| BCOR | 7 | Dec 13, 2022 |
| BCORL1 | 4 | Dec 13, 2022 |
| BCR | 1 | Dec 13, 2022 |
| BCS1L | 24 | Dec 13, 2022 |
| BDP1 | 2 | Dec 13, 2022 |
| BEST1 | 8 | Dec 13, 2022 |
| BGN | 3 | Dec 13, 2022 |
| BICC1 | 10 | Dec 13, 2022 |
| BICD2 | 3 | Dec 13, 2022 |
| BIN1 | 4 | Dec 13, 2022 |
| BIVM-ERCC5 | 11 | Dec 13, 2022 |
| BLK | 24 | Dec 13, 2022 |
| BLM | 61 | Dec 13, 2022 |
| BLNK | 2 | Dec 13, 2022 |
| BLOC1S1-RDH5 | 1 | Dec 13, 2022 |
| BLOC1S3 | 2 | Dec 13, 2022 |
| BLOC1S6 | 1 | Dec 13, 2022 |
| BMP1 | 3 | Dec 13, 2022 |
| BMP4 | 7 | Dec 13, 2022 |
| BMPR1A | 10 | Dec 13, 2022 |
| BMPR1B | 1 | Dec 13, 2022 |
| BMPR2 | 39 | Dec 13, 2022 |
| BNC2 | 1 | Dec 13, 2022 |
| BOLA3 | 2 | Dec 13, 2022 |
| BPTF | 3 | Dec 13, 2022 |
| BRAF | 44 | Dec 13, 2022 |
| BRAT1 | 17 | Dec 13, 2022 |
| BRCA1 | 156 | Dec 13, 2022 |
| BRCA2 | 217 | Dec 13, 2022 |
| BRF1 | 1 | Dec 13, 2022 |
| BRIP1 | 50 | Dec 13, 2022 |
| BRPF1 | 1 | Dec 13, 2022 |
| BRWD3 | 4 | Dec 13, 2022 |
| BSCL2 | 43 | Dec 13, 2022 |
| BSND | 31 | Dec 13, 2022 |
| BTD | 24 | Dec 13, 2022 |
| BTK | 4 | Dec 13, 2022 |
| BUB1B | 17 | Dec 13, 2022 |
| BUB1B-PAK6 | 2 | Dec 13, 2022 |
| C10orf105 | 10 | Dec 13, 2022 |
| C11orf65 | 80 | Dec 13, 2022 |
| C12orf43 | 2 | Dec 13, 2022 |
| C12orf57 | 1 | Nov 14, 2018 |
| C14orf39 | 1 | Nov 14, 2018 |
| C17orf107 | 16 | Dec 13, 2022 |
| C1GALT1C1 | 1 | Dec 13, 2022 |
| C1QTNF3-AMACR | 5 | Dec 13, 2022 |
| C1QTNF5 | 5 | Dec 13, 2022 |
| C1R | 1 | Dec 13, 2022 |
| C1S | 4 | Dec 13, 2022 |
| C2 | 10 | Dec 13, 2022 |
| C2-AS1 | 1 | Dec 13, 2022 |
| C22orf31 | 1 | Dec 13, 2022 |
| C2CD3 | 1 | Dec 13, 2022 |
| C3 | 98 | Dec 13, 2022 |
| C3orf80 | 1 | Nov 14, 2018 |
| C5 | 98 | Dec 13, 2022 |
| C5-OT1 | 3 | Dec 13, 2022 |
| C6 | 15 | Dec 13, 2022 |
| C7 | 11 | Dec 13, 2022 |
| C8A | 3 | Dec 13, 2022 |
| C8B | 6 | Dec 13, 2022 |
| C9 | 6 | Dec 13, 2022 |
| C9orf72 | 1 | Dec 13, 2022 |
| CA2 | 18 | Dec 13, 2022 |
| CABP2 | 3 | Dec 13, 2022 |
| CACNA1A | 47 | Dec 13, 2022 |
| CACNA1B | 6 | Dec 13, 2022 |
| CACNA1C | 100 | Dec 13, 2022 |
| CACNA1C-AS1 | 46 | Dec 13, 2022 |
| CACNA1D | 17 | Dec 13, 2022 |
| CACNA1E | 9 | Dec 13, 2022 |
| CACNA1F | 3 | Dec 13, 2022 |
| CACNA1G | 3 | Dec 13, 2022 |
| CACNA1H | 587 | Dec 13, 2022 |
| CACNA1S | 233 | Dec 13, 2022 |
| CACNA2D2 | 9 | Dec 13, 2022 |
| CACNA2D4 | 3 | Dec 13, 2022 |
| CACNB2 | 45 | Dec 13, 2022 |
| CACNB4 | 4 | Dec 13, 2022 |
| CAD | 1 | Dec 13, 2022 |
| CALM3 | 2 | Dec 13, 2022 |
| CALR | 1 | Dec 13, 2022 |
| CALR3 | 1 | Nov 14, 2018 |
| CAMK2B | 4 | Dec 13, 2022 |
| CAMTA1 | 7 | Dec 13, 2022 |
| CANT1 | 1 | Dec 13, 2022 |
| CAPN1 | 1 | Dec 13, 2022 |
| CAPN3 | 51 | Dec 13, 2022 |
| CAPN5 | 1 | Dec 13, 2022 |
| CARD11 | 9 | Dec 13, 2022 |
| CARD14 | 9 | Dec 13, 2022 |
| CARD9 | 9 | Dec 13, 2022 |
| CARMIL2 | 5 | Dec 13, 2022 |
| CARS1 | 1 | Dec 13, 2022 |
| CARS2 | 8 | Dec 13, 2022 |
| CASD1 | 1 | Dec 13, 2022 |
| CASK | 2 | Dec 13, 2022 |
| CASP10 | 1 | Dec 13, 2022 |
| CASP8 | 1 | Dec 13, 2022 |
| CASQ1 | 1 | Dec 13, 2022 |
| CASQ2 | 56 | Dec 13, 2022 |
| CASR | 115 | Dec 13, 2022 |
| CAST | 6 | Dec 13, 2022 |
| CATIP-AS2 | 1 | Dec 13, 2022 |
| CATSPER1 | 1 | Dec 13, 2022 |
| CAV1 | 10 | Dec 13, 2022 |
| CAV3 | 24 | Dec 13, 2022 |
| CBL | 48 | Dec 13, 2022 |
| CBS | 42 | Dec 13, 2022 |
| CC2D1A | 7 | Dec 13, 2022 |
| CC2D2A | 33 | Dec 13, 2022 |
| CCBE1 | 3 | Dec 13, 2022 |
| CCDC107 | 1 | Dec 13, 2022 |
| CCDC141 | 3 | Dec 13, 2022 |
| CCDC174 | 1 | Dec 13, 2022 |
| CCDC22 | 3 | Dec 13, 2022 |
| CCDC28B | 1 | Dec 13, 2022 |
| CCDC39 | 23 | Dec 13, 2022 |
| CCDC40 | 27 | Dec 13, 2022 |
| CCDC50 | 2 | Dec 13, 2022 |
| CCDC65 | 5 | Dec 13, 2022 |
| CCDC78 | 3 | Dec 13, 2022 |
| CCDC8 | 2 | Dec 13, 2022 |
| CCDC88A | 1 | Dec 13, 2022 |
| CCDC88C | 13 | Dec 13, 2022 |
| CCDST | 9 | Dec 13, 2022 |
| CCM2 | 2 | Dec 13, 2022 |
| CCN6 | 1 | Dec 13, 2022 |
| CCND2 | 1 | Dec 13, 2022 |
| CCNH | 7 | Dec 13, 2022 |
| CCNO | 2 | Dec 13, 2022 |
| CD151 | 11 | Dec 13, 2022 |
| CD19 | 1 | Dec 13, 2022 |
| CD247 | 1 | Nov 14, 2018 |
| CD2AP | 29 | Dec 13, 2022 |
| CD36 | 1 | Dec 13, 2022 |
| CD3D | 2 | Dec 13, 2022 |
| CD3E | 1 | Dec 13, 2022 |
| CD3G | 3 | Dec 13, 2022 |
| CD40 | 1 | Dec 13, 2022 |
| CD40LG | 1 | Nov 14, 2018 |
| CD46 | 9 | Dec 13, 2022 |
| CD55 | 3 | Dec 13, 2022 |
| CD79A | 2 | Dec 13, 2022 |
| CD79B | 1 | Dec 13, 2022 |
| CD81 | 3 | Dec 13, 2022 |
| CD96 | 1 | Dec 13, 2022 |
| CDC14A | 1 | Dec 13, 2022 |
| CDC42 | 3 | Dec 13, 2022 |
| CDC42BPB | 1 | Dec 13, 2022 |
| CDC73 | 43 | Dec 13, 2022 |
| CDCA7 | 1 | Dec 13, 2022 |
| CDCA7L | 3 | Dec 13, 2022 |
| CDH1 | 36 | Dec 13, 2022 |
| CDH15 | 4 | Dec 13, 2022 |
| CDH2 | 2 | Dec 13, 2022 |
| CDH23 | 128 | Dec 13, 2022 |
| CDH23-AS1 | 4 | Dec 13, 2022 |
| CDH3 | 3 | Dec 13, 2022 |
| CDHR1 | 3 | Dec 13, 2022 |
| CDK13 | 6 | Dec 13, 2022 |
| CDK19 | 1 | Dec 13, 2022 |
| CDK4 | 3 | Dec 13, 2022 |
| CDK5RAP2 | 2 | Dec 13, 2022 |
| CDKL5 | 9 | Dec 13, 2022 |
| CDKN1B | 10 | Dec 13, 2022 |
| CDKN1C | 50 | Dec 13, 2022 |
| CDKN2A | 17 | Dec 13, 2022 |
| CDON | 3 | Dec 13, 2022 |
| CDSN | 1 | Dec 13, 2022 |
| CDT1 | 3 | Dec 13, 2022 |
| CEACAM16 | 4 | Dec 13, 2022 |
| CEACAM16-AS1 | 4 | Dec 13, 2022 |
| CEBPA | 8 | Dec 13, 2022 |
| CEL | 18 | Dec 13, 2022 |
| CELSR1 | 1 | Dec 13, 2022 |
| CENPE | 1 | Nov 14, 2018 |
| CENPF | 6 | Dec 13, 2022 |
| CEP104 | 2 | Dec 13, 2022 |
| CEP120 | 1 | Dec 13, 2022 |
| CEP128 | 1 | Dec 13, 2022 |
| CEP152 | 8 | Dec 13, 2022 |
| CEP164 | 164 | Dec 13, 2022 |
| CEP250 | 1 | Dec 13, 2022 |
| CEP250-AS1 | 1 | Dec 13, 2022 |
| CEP290 | 281 | Dec 13, 2022 |
| CEP41 | 4 | Dec 13, 2022 |
| CEP57 | 4 | Dec 13, 2022 |
| CEP78 | 4 | Dec 13, 2022 |
| CEP85L | 15 | Dec 13, 2022 |
| CERKL | 8 | Dec 13, 2022 |
| CERS1 | 2 | Dec 13, 2022 |
| CETP | 8 | Dec 13, 2022 |
| CFAP298 | 1 | Dec 13, 2022 |
| CFAP298-TCP10L | 1 | Dec 13, 2022 |
| CFAP418 | 21 | Dec 13, 2022 |
| CFAP418-AS1 | 7 | Dec 13, 2022 |
| CFAP53 | 1 | Dec 13, 2022 |
| CFAP92 | 4 | Dec 13, 2022 |
| CFAP96 | 1 | Dec 13, 2022 |
| CFB | 10 | Dec 13, 2022 |
| CFH | 78 | Dec 13, 2022 |
| CFHR1 | 1 | Dec 13, 2022 |
| CFHR3 | 6 | Dec 13, 2022 |
| CFHR5 | 21 | Dec 13, 2022 |
| CFI | 55 | Dec 13, 2022 |
| CFP | 1 | Dec 13, 2022 |
| CFTR | 165 | Dec 13, 2022 |
| CFTR-AS1 | 19 | Dec 13, 2022 |
| CHAMP1 | 2 | Dec 13, 2022 |
| CHAT | 3 | Dec 13, 2022 |
| CHD1 | 2 | Dec 13, 2022 |
| CHD2 | 13 | Dec 13, 2022 |
| CHD4 | 2 | Dec 13, 2022 |
| CHD7 | 220 | Dec 13, 2022 |
| CHD8 | 7 | Dec 13, 2022 |
| CHEK2 | 64 | Dec 13, 2022 |
| CHM | 1 | Nov 14, 2018 |
| CHMP2B | 1 | Dec 13, 2022 |
| CHPT1 | 1 | Nov 14, 2018 |
| CHRM3 | 3 | Dec 13, 2022 |
| CHRNA1 | 2 | Dec 13, 2022 |
| CHRNA2 | 8 | Dec 13, 2022 |
| CHRNA3 | 4 | Dec 13, 2022 |
| CHRNA4 | 14 | Dec 13, 2022 |
| CHRNB2 | 8 | Dec 13, 2022 |
| CHRND | 5 | Dec 13, 2022 |
| CHRNE | 24 | Dec 13, 2022 |
| CHRNG | 7 | Dec 13, 2022 |
| CHROMR | 3 | Dec 13, 2022 |
| CHST3 | 2 | Dec 13, 2022 |
| CHST6 | 6 | Dec 13, 2022 |
| CHSY1 | 5 | Dec 13, 2022 |
| CHUK-DT | 1 | Dec 13, 2022 |
| CIB2 | 5 | Dec 13, 2022 |
| CIC | 2 | Dec 13, 2022 |
| CIITA | 18 | Dec 13, 2022 |
| CILK1 | 1 | Dec 13, 2022 |
| CISD2 | 7 | Dec 13, 2022 |
| CIT | 1 | Dec 13, 2022 |
| CIZ1 | 2 | Dec 13, 2022 |
| CKAP2L | 1 | Dec 13, 2022 |
| CLASP1 | 8 | Dec 13, 2022 |
| CLCC1 | 2 | Dec 13, 2022 |
| CLCN1 | 19 | Dec 13, 2022 |
| CLCN2 | 40 | Dec 13, 2022 |
| CLCN4 | 4 | Dec 13, 2022 |
| CLCN5 | 22 | Dec 13, 2022 |
| CLCN7 | 4 | Dec 13, 2022 |
| CLCNKA | 3 | Dec 13, 2022 |
| CLCNKB | 50 | Dec 13, 2022 |
| CLDN14 | 2 | Dec 13, 2022 |
| CLDN14-AS1 | 2 | Dec 13, 2022 |
| CLDN16 | 10 | Dec 13, 2022 |
| CLDN19 | 17 | Dec 13, 2022 |
| CLEC7A | 2 | Dec 13, 2022 |
| CLN3 | 10 | Dec 13, 2022 |
| CLN5 | 11 | Dec 13, 2022 |
| CLN6 | 14 | Dec 13, 2022 |
| CLN8 | 15 | Dec 13, 2022 |
| CLPB | 6 | Dec 13, 2022 |
| CLPP | 2 | Dec 13, 2022 |
| CLRN1 | 9 | Dec 13, 2022 |
| CLRN1-AS1 | 1 | Dec 13, 2022 |
| CLTC | 1 | Dec 13, 2022 |
| CNGA1 | 7 | Dec 13, 2022 |
| CNGA3 | 5 | Dec 13, 2022 |
| CNGB1 | 17 | Dec 13, 2022 |
| CNGB3 | 12 | Dec 13, 2022 |
| CNNM2 | 18 | Dec 13, 2022 |
| CNTN1 | 2 | Dec 13, 2022 |
| CNTN2 | 8 | Dec 13, 2022 |
| CNTNAP1 | 2 | Dec 13, 2022 |
| CNTNAP2 | 34 | Dec 13, 2022 |
| COA6 | 1 | Dec 13, 2022 |
| COA8 | 17 | Dec 13, 2022 |
| COASY | 1 | Dec 13, 2022 |
| COG1 | 1 | Dec 13, 2022 |
| COG2 | 1 | Dec 13, 2022 |
| COG4 | 3 | Dec 13, 2022 |
| COG5 | 12 | Dec 13, 2022 |
| COG6 | 6 | Dec 13, 2022 |
| COG7 | 7 | Dec 13, 2022 |
| COG8 | 4 | Dec 13, 2022 |
| COL11A1 | 19 | Dec 13, 2022 |
| COL11A2 | 17 | Dec 13, 2022 |
| COL12A1 | 43 | Dec 13, 2022 |
| COL13A1 | 1 | Dec 13, 2022 |
| COL17A1 | 3 | Dec 13, 2022 |
| COL18A1 | 25 | Dec 13, 2022 |
| COL1A1 | 37 | Dec 13, 2022 |
| COL1A2 | 17 | Dec 13, 2022 |
| COL27A1 | 7 | Dec 13, 2022 |
| COL2A1 | 26 | Dec 13, 2022 |
| COL3A1 | 81 | Dec 13, 2022 |
| COL4A1 | 116 | Dec 13, 2022 |
| COL4A2 | 8 | Dec 13, 2022 |
| COL4A3 | 159 | Dec 13, 2022 |
| COL4A4 | 175 | Dec 13, 2022 |
| COL4A5 | 144 | Dec 13, 2022 |
| COL4A6 | 5 | Dec 13, 2022 |
| COL5A1 | 50 | Dec 13, 2022 |
| COL5A2 | 19 | Dec 13, 2022 |
| COL6A1 | 12 | Dec 13, 2022 |
| COL6A2 | 11 | Dec 13, 2022 |
| COL6A3 | 23 | Dec 13, 2022 |
| COL7A1 | 68 | Dec 13, 2022 |
| COL9A1 | 14 | Dec 13, 2022 |
| COL9A2 | 10 | Dec 13, 2022 |
| COL9A3 | 17 | Dec 13, 2022 |
| COMP | 4 | Dec 13, 2022 |
| COMT | 2 | Dec 13, 2022 |
| COPA | 5 | Dec 13, 2022 |
| COPB2 | 1 | Dec 13, 2022 |
| COQ2 | 37 | Dec 13, 2022 |
| COQ4 | 3 | Dec 13, 2022 |
| COQ6 | 17 | Dec 13, 2022 |
| COQ8A | 9 | Dec 13, 2022 |
| COQ8B | 3 | Dec 13, 2022 |
| COQ9 | 4 | Dec 13, 2022 |
| CORO1A | 4 | Dec 13, 2022 |
| COX10 | 25 | Dec 13, 2022 |
| COX14 | 4 | Dec 13, 2022 |
| COX15 | 2 | Dec 13, 2022 |
| COX20 | 13 | Dec 13, 2022 |
| COX4I1 | 1 | Dec 13, 2022 |
| COX6B1 | 6 | Dec 13, 2022 |
| COX8A | 4 | Dec 13, 2022 |
| CP | 19 | Dec 13, 2022 |
| CPA6 | 7 | Dec 13, 2022 |
| CPAP | 16 | Dec 13, 2022 |
| CPE | 2 | Dec 13, 2022 |
| CPEB1-AS1 | 1 | Dec 13, 2022 |
| CPLANE1 | 219 | Dec 13, 2022 |
| CPOX | 3 | Dec 13, 2022 |
| CPS1 | 26 | Dec 13, 2022 |
| CPT1A | 14 | Dec 13, 2022 |
| CPT1C | 1 | Dec 13, 2022 |
| CPT2 | 78 | Dec 13, 2022 |
| CR1 | 1 | Dec 13, 2022 |
| CR2 | 7 | Dec 13, 2022 |
| CRAT | 2 | Dec 13, 2022 |
| CRB1 | 36 | Dec 13, 2022 |
| CRB2 | 11 | Dec 13, 2022 |
| CREB3L1 | 1 | Nov 14, 2018 |
| CREB3L3 | 4 | Dec 13, 2022 |
| CREBBP | 102 | Dec 13, 2022 |
| CRELD1 | 2 | Dec 13, 2022 |
| CRLF1 | 1 | Dec 13, 2022 |
| CRPPA | 1 | Dec 13, 2022 |
| CRPPA-AS1 | 1 | Dec 13, 2022 |
| CRTAP | 3 | Dec 13, 2022 |
| CRX | 2 | Dec 13, 2022 |
| CRYAB | 15 | Dec 13, 2022 |
| CRYBA1 | 1 | Dec 13, 2022 |
| CRYBA4 | 1 | Dec 13, 2022 |
| CRYBB1 | 1 | Dec 13, 2022 |
| CRYBB3 | 1 | Dec 13, 2022 |
| CRYGS | 1 | Dec 13, 2022 |
| CRYM | 5 | Dec 13, 2022 |
| CSF1R | 7 | Dec 13, 2022 |
| CSF2RA | 1 | Dec 13, 2022 |
| CSF2RB | 1 | Dec 13, 2022 |
| CSF3R | 4 | Dec 13, 2022 |
| CSGALNACT1 | 5 | Dec 13, 2022 |
| CSNK2A1 | 1 | Dec 13, 2022 |
| CSPP1 | 5 | Dec 13, 2022 |
| CSRP3 | 35 | Dec 13, 2022 |
| CSRP3-AS1 | 1 | Dec 13, 2022 |
| CST3 | 1 | Dec 13, 2022 |
| CSTB | 2 | Dec 13, 2022 |
| CTBP1 | 1 | Dec 13, 2022 |
| CTC1 | 22 | Dec 13, 2022 |
| CTCF | 2 | Dec 13, 2022 |
| CTDP1 | 3 | Dec 13, 2022 |
| CTF1 | 1 | Nov 14, 2018 |
| CTNNA1 | 9 | Dec 13, 2022 |
| CTNNA3 | 9 | Dec 13, 2022 |
| CTNNB1 | 7 | Dec 13, 2022 |
| CTNND2 | 1 | Jul 27, 2020 |
| CTNS | 48 | Dec 13, 2022 |
| CTNS-AS1 | 23 | Dec 13, 2022 |
| CTPS1 | 1 | Dec 13, 2022 |
| CTRC | 1 | Dec 13, 2022 |
| CTSA | 4 | Dec 13, 2022 |
| CTSC | 8 | Dec 13, 2022 |
| CTSD | 11 | Dec 13, 2022 |
| CTSF | 3 | Dec 13, 2022 |
| CTSK | 8 | Dec 13, 2022 |
| CTU2 | 3 | Dec 13, 2022 |
| CTXN2-AS1 | 14 | Dec 13, 2022 |
| CUBN | 196 | Dec 13, 2022 |
| CUL3 | 9 | Dec 13, 2022 |
| CUL4B | 2 | Dec 13, 2022 |
| CUL7 | 6 | Dec 13, 2022 |
| CUX2 | 4 | Dec 13, 2022 |
| CWF19L1 | 2 | Dec 13, 2022 |
| CXCR4 | 4 | Dec 13, 2022 |
| CYB561D2 | 6 | Dec 13, 2022 |
| CYB5R3 | 5 | Dec 13, 2022 |
| CYBA | 5 | Dec 13, 2022 |
| CYBB | 6 | Dec 13, 2022 |
| CYC1 | 1 | Dec 13, 2022 |
| CYFIP2 | 6 | Dec 13, 2022 |
| CYLD | 1 | Dec 13, 2022 |
| CYLD-AS2 | 1 | Dec 13, 2022 |
| CYP11A1 | 14 | Dec 13, 2022 |
| CYP11B1 | 56 | Dec 13, 2022 |
| CYP11B2 | 42 | Dec 13, 2022 |
| CYP17A1 | 27 | Dec 13, 2022 |
| CYP17A1-AS1 | 4 | Dec 13, 2022 |
| CYP19A1 | 2 | Dec 13, 2022 |
| CYP1B1 | 25 | Dec 13, 2022 |
| CYP21A2 | 18 | Dec 13, 2022 |
| CYP24A1 | 31 | Dec 13, 2022 |
| CYP27A1 | 25 | Dec 13, 2022 |
| CYP27B1 | 18 | Dec 13, 2022 |
| CYP2R1 | 20 | Dec 13, 2022 |
| CYP2U1-AS1 | 2 | Dec 13, 2022 |
| CYP4F22 | 2 | Dec 13, 2022 |
| CYP4V2 | 1 | Dec 13, 2022 |
| CYP7B1 | 3 | Dec 13, 2022 |
| CZ1P-ASNS | 6 | Dec 13, 2022 |
| D2HGDH | 3 | Dec 13, 2022 |
| DACT1 | 2 | Dec 13, 2022 |
| DAG1 | 3 | Dec 13, 2022 |
| DARS2 | 6 | Dec 13, 2022 |
| DBH | 1 | Dec 13, 2022 |
| DBT | 7 | Dec 13, 2022 |
| DCAF6 | 13 | Dec 13, 2022 |
| DCAF8 | 1 | Dec 13, 2022 |
| DCC | 4 | Dec 13, 2022 |
| DCDC2 | 23 | Dec 13, 2022 |
| DCHS1 | 3 | Dec 13, 2022 |
| DCLRE1C | 10 | Dec 13, 2022 |
| DCTN1 | 21 | Dec 13, 2022 |
| DCTN5 | 1 | Dec 13, 2022 |
| DDB2 | 1 | Dec 13, 2022 |
| DDC | 2 | Dec 13, 2022 |
| DDC-AS1 | 1 | Dec 13, 2022 |
| DDHD2 | 2 | Dec 13, 2022 |
| DDOST | 2 | Dec 13, 2022 |
| DDR2 | 1 | Dec 13, 2022 |
| DDX11 | 1 | Dec 13, 2022 |
| DDX3X | 4 | Dec 13, 2022 |
| DDX41 | 2 | Dec 13, 2022 |
| DEAF1 | 4 | Dec 13, 2022 |
| DENND5A | 1 | Dec 13, 2022 |
| DEPDC5 | 23 | Dec 13, 2022 |
| DES | 56 | Dec 13, 2022 |
| DGAT1 | 1 | Nov 14, 2018 |
| DGCR6 | 1 | Dec 13, 2022 |
| DGKE | 16 | Dec 13, 2022 |
| DGUOK | 3 | Dec 13, 2022 |
| DHCR24 | 4 | Dec 13, 2022 |
| DHCR7 | 102 | Dec 13, 2022 |
| DHDDS | 5 | Dec 13, 2022 |
| DHODH | 2 | Dec 13, 2022 |
| DHTKD1 | 2 | Dec 13, 2022 |
| DHX38 | 6 | Dec 13, 2022 |
| DIABLO | 1 | Dec 13, 2022 |
| DIAPH1 | 9 | Dec 13, 2022 |
| DICER1 | 26 | Dec 13, 2022 |
| DIPK1A | 23 | Dec 13, 2022 |
| DIS3L2 | 21 | Dec 13, 2022 |
| DKC1 | 3 | Dec 13, 2022 |
| DLC1 | 12 | Dec 13, 2022 |
| DLD | 6 | Dec 13, 2022 |
| DLG4 | 2 | Dec 13, 2022 |
| DLGAP4-AS1 | 1 | Mar 9, 2020 |
| DLL1 | 1 | Dec 13, 2022 |
| DLL3 | 2 | Dec 13, 2022 |
| DLL4 | 1 | Dec 13, 2022 |
| DLX3 | 1 | Dec 13, 2022 |
| DLX4 | 1 | Dec 13, 2022 |
| DM1-AS | 8 | Dec 13, 2022 |
| DMAC2L | 2 | Dec 13, 2022 |
| DMD | 145 | Dec 13, 2022 |
| DMP1 | 16 | Dec 13, 2022 |
| DMXL2 | 5 | Dec 13, 2022 |
| DNA2 | 7 | Dec 13, 2022 |
| DNAAF1 | 15 | Dec 13, 2022 |
| DNAAF11 | 3 | Dec 13, 2022 |
| DNAAF19 | 4 | Dec 13, 2022 |
| DNAAF2 | 8 | Dec 13, 2022 |
| DNAAF3 | 6 | Dec 13, 2022 |
| DNAAF3-AS1 | 5 | Dec 13, 2022 |
| DNAAF4 | 4 | Dec 13, 2022 |
| DNAAF4-CCPG1 | 4 | Dec 13, 2022 |
| DNAAF5 | 19 | Dec 13, 2022 |
| DNAH1 | 26 | Dec 13, 2022 |
| DNAH11 | 65 | Dec 13, 2022 |
| DNAH17 | 1 | Dec 13, 2022 |
| DNAH5 | 78 | Dec 13, 2022 |
| DNAH8 | 21 | Dec 13, 2022 |
| DNAH8-AS1 | 4 | Dec 13, 2022 |
| DNAH9 | 15 | Dec 13, 2022 |
| DNAI1 | 17 | Dec 13, 2022 |
| DNAI2 | 14 | Dec 13, 2022 |
| DNAJB13 | 1 | Dec 13, 2022 |
| DNAJB2 | 1 | Dec 13, 2022 |
| DNAJC21 | 4 | Dec 13, 2022 |
| DNAJC5 | 1 | Dec 13, 2022 |
| DNAJC6 | 1 | Dec 13, 2022 |
| DNAL1 | 1 | Dec 13, 2022 |
| DNASE1L3 | 36 | Dec 13, 2022 |
| DNHD1 | 2 | Dec 13, 2022 |
| DNM1 | 6 | Dec 13, 2022 |
| DNM1L | 4 | Dec 13, 2022 |
| DNM2 | 5 | Dec 13, 2022 |
| DNMT1 | 26 | Dec 13, 2022 |
| DNMT3A | 2 | Dec 13, 2022 |
| DOCK2 | 3 | Dec 13, 2022 |
| DOCK3 | 1 | Dec 13, 2022 |
| DOCK6 | 8 | Dec 13, 2022 |
| DOCK6-AS1 | 3 | Dec 13, 2022 |
| DOCK7 | 9 | Dec 13, 2022 |
| DOCK8 | 6 | Dec 13, 2022 |
| DOCK8-AS1 | 1 | Dec 13, 2022 |
| DOK7 | 12 | Dec 13, 2022 |
| DOLK | 36 | Dec 13, 2022 |
| DPAGT1 | 2 | Dec 13, 2022 |
| DPF2 | 1 | Dec 13, 2022 |
| DPM1 | 1 | Dec 13, 2022 |
| DPM2 | 2 | Dec 13, 2022 |
| DPP6 | 4 | Dec 13, 2022 |
| DPYD | 19 | Oct 25, 2024 |
| DPYD-AS1 | 4 | Dec 13, 2022 |
| DRC1 | 15 | Dec 13, 2022 |
| DSC2 | 71 | Dec 13, 2022 |
| DSCAS | 6 | Dec 13, 2022 |
| DSE | 3 | Dec 13, 2022 |
| DSG1 | 4 | Dec 13, 2022 |
| DSG1-AS1 | 3 | Dec 13, 2022 |
| DSG2 | 101 | Dec 13, 2022 |
| DSG2-AS1 | 44 | Dec 13, 2022 |
| DSP | 240 | Dec 13, 2022 |
| DSP-AS1 | 9 | Dec 13, 2022 |
| DSPP | 3 | Dec 13, 2022 |
| DST | 4 | Dec 13, 2022 |
| DTNA | 4 | Dec 13, 2022 |
| DTNBP1 | 3 | Dec 13, 2022 |
| DUOX2 | 25 | Dec 13, 2022 |
| DUOXA2 | 2 | Dec 13, 2022 |
| DUSP29 | 36 | Dec 13, 2022 |
| DVL1 | 4 | Dec 13, 2022 |
| DVL2 | 1 | Dec 13, 2022 |
| DYM | 1 | Dec 13, 2022 |
| DYNC1H1 | 27 | Dec 13, 2022 |
| DYNC2H1 | 16 | Dec 13, 2022 |
| DYNC2I2 | 3 | Dec 13, 2022 |
| DYNC2LI1 | 8 | Dec 13, 2022 |
| DYRK1A | 2 | Dec 13, 2022 |
| DYSF | 53 | Dec 13, 2022 |
| DZIP1L | 2 | Dec 13, 2022 |
| EARS2 | 4 | Dec 13, 2022 |
| EBP | 4 | Dec 13, 2022 |
| ECEL1 | 1 | Dec 13, 2022 |
| ECHS1 | 4 | Dec 13, 2022 |
| EDA | 7 | Dec 13, 2022 |
| EDAR | 2 | Dec 13, 2022 |
| EDN3 | 3 | Dec 13, 2022 |
| EDNRA | 7 | Dec 13, 2022 |
| EDNRB | 3 | Dec 13, 2022 |
| EDNRB-AS1 | 3 | Dec 13, 2022 |
| EEF1A2 | 5 | Dec 13, 2022 |
| EEF2KMT | 7 | Dec 13, 2022 |
| EFEMP1 | 1 | Dec 13, 2022 |
| EFEMP2 | 6 | Dec 13, 2022 |
| EFHC1 | 13 | Dec 13, 2022 |
| EFL1 | 1 | Dec 13, 2022 |
| EFTUD2 | 3 | Dec 13, 2022 |
| EGF | 29 | Dec 13, 2022 |
| EGFR | 2 | Dec 13, 2022 |
| EGLN1 | 3 | Dec 13, 2022 |
| EHHADH | 2 | Dec 13, 2022 |
| EHMT1 | 15 | Dec 13, 2022 |
| EIF2AK3 | 62 | Dec 13, 2022 |
| EIF2AK4 | 2 | Dec 13, 2022 |
| EIF2B1 | 2 | Dec 13, 2022 |
| EIF2B2 | 2 | Dec 13, 2022 |
| EIF2B3 | 2 | Dec 13, 2022 |
| EIF2B4 | 2 | Dec 13, 2022 |
| EIF2B5 | 10 | Dec 13, 2022 |
| EIF4G1 | 4 | Dec 13, 2022 |
| ELAC2 | 8 | Dec 13, 2022 |
| ELANE | 5 | Dec 13, 2022 |
| ELMO2 | 1 | Dec 13, 2022 |
| ELMOD3 | 2 | Dec 13, 2022 |
| ELN | 18 | Dec 13, 2022 |
| ELN-AS1 | 3 | Dec 13, 2022 |
| ELOVL4 | 3 | Dec 13, 2022 |
| ELP1 | 146 | Dec 13, 2022 |
| ELP4 | 1 | Nov 14, 2018 |
| EMC1 | 6 | Dec 13, 2022 |
| EMC1-AS1 | 5 | Dec 13, 2022 |
| EMD | 15 | Dec 13, 2022 |
| EMP2 | 1 | Dec 13, 2022 |
| ENG | 35 | Dec 13, 2022 |
| ENO3 | 5 | Dec 13, 2022 |
| ENPP1 | 26 | Dec 13, 2022 |
| ENTPD5 | 15 | Dec 13, 2022 |
| ENTREP2 | 2 | Dec 13, 2022 |
| EP300 | 12 | Dec 13, 2022 |
| EPB41 | 1 | Dec 13, 2022 |
| EPCAM | 10 | Dec 13, 2022 |
| EPG5 | 6 | Dec 13, 2022 |
| EPHA2 | 2 | Dec 13, 2022 |
| EPHB4 | 3 | Dec 13, 2022 |
| EPM2A | 6 | Dec 13, 2022 |
| EPM2A-DT | 3 | Dec 13, 2022 |
| EPS8 | 4 | Dec 13, 2022 |
| EPX | 1 | Dec 13, 2022 |
| ERBB4 | 2 | Dec 13, 2022 |
| ERCC2 | 23 | Dec 13, 2022 |
| ERCC3 | 14 | Dec 13, 2022 |
| ERCC4 | 22 | Dec 13, 2022 |
| ERCC5 | 11 | Dec 13, 2022 |
| ERCC6 | 28 | Dec 13, 2022 |
| ERCC6L2 | 4 | Dec 13, 2022 |
| ERCC8 | 7 | Dec 13, 2022 |
| ERCC8-AS1 | 2 | Dec 13, 2022 |
| ERF | 1 | Nov 14, 2018 |
| ERMARD | 2 | Dec 13, 2022 |
| ESCO2 | 3 | Dec 13, 2022 |
| ESPN | 7 | Dec 13, 2022 |
| ESR1 | 3 | Dec 13, 2022 |
| ESR2 | 1 | Dec 13, 2022 |
| ETFA | 6 | Dec 13, 2022 |
| ETFB | 3 | Dec 13, 2022 |
| ETFDH | 25 | Dec 13, 2022 |
| ETHE1 | 5 | Dec 13, 2022 |
| EVC | 16 | Dec 13, 2022 |
| EVC2 | 33 | Dec 13, 2022 |
| EXOC8 | 1 | Dec 13, 2022 |
| EXOSC3 | 7 | Dec 13, 2022 |
| EXOSC8 | 1 | Dec 13, 2022 |
| EXT1 | 4 | Dec 13, 2022 |
| EXT2 | 12 | Dec 13, 2022 |
| EXTL3 | 4 | Dec 13, 2022 |
| EYA1 | 41 | Dec 13, 2022 |
| EYA4 | 29 | Dec 13, 2022 |
| EYS | 71 | Dec 13, 2022 |
| EZH2 | 3 | Dec 13, 2022 |
| F11 | 20 | Dec 13, 2022 |
| F11-AS1 | 3 | Dec 13, 2022 |
| F12 | 6 | Dec 13, 2022 |
| F13A1 | 1 | Dec 13, 2022 |
| F13B | 1 | Dec 13, 2022 |
| F2 | 1 | Dec 13, 2022 |
| F5 | 6 | Dec 13, 2022 |
| F7 | 9 | Dec 13, 2022 |
| F8 | 14 | Dec 13, 2022 |
| F9 | 10 | Dec 13, 2022 |
| FA2H | 1 | Nov 14, 2018 |
| FAAH | 1 | Dec 13, 2022 |
| FAH | 14 | Dec 13, 2022 |
| FAM111A | 1 | Dec 13, 2022 |
| FAM161A | 10 | Dec 13, 2022 |
| FAM20A | 29 | Dec 13, 2022 |
| FAM20C | 9 | Dec 13, 2022 |
| FAM83H | 2 | Dec 13, 2022 |
| FAN1 | 23 | Dec 13, 2022 |
| FANCA | 346 | Dec 13, 2022 |
| FANCB | 28 | Dec 13, 2022 |
| FANCC | 109 | Dec 13, 2022 |
| FANCD2 | 138 | Dec 13, 2022 |
| FANCD2OS | 42 | Dec 13, 2022 |
| FANCE | 74 | Dec 13, 2022 |
| FANCF | 45 | Dec 13, 2022 |
| FANCG | 69 | Dec 13, 2022 |
| FANCI | 182 | Dec 13, 2022 |
| FANCL | 55 | Dec 13, 2022 |
| FANCM | 222 | Dec 13, 2022 |
| FAR1 | 1 | Dec 13, 2022 |
| FARS2 | 3 | Dec 13, 2022 |
| FARSB | 2 | Dec 13, 2022 |
| FAS | 2 | Dec 13, 2022 |
| FASLG | 1 | Dec 13, 2022 |
| FASN | 5 | Nov 14, 2018 |
| FASTKD2 | 38 | Dec 13, 2022 |
| FAT2 | 1 | Dec 13, 2022 |
| FAT4 | 11 | Dec 13, 2022 |
| FBLN1 | 1 | Dec 13, 2022 |
| FBLN5 | 2 | Dec 13, 2022 |
| FBN1 | 247 | Dec 13, 2022 |
| FBN2 | 37 | Dec 13, 2022 |
| FBP1 | 1 | Dec 13, 2022 |
| FBXL3 | 8 | Dec 13, 2022 |
| FBXL4 | 5 | Dec 13, 2022 |
| FBXO11 | 2 | Dec 13, 2022 |
| FBXO38 | 1 | Dec 13, 2022 |
| FBXO7 | 9 | Dec 13, 2022 |
| FCHO1 | 1 | Dec 13, 2022 |
| FCN3 | 4 | Dec 13, 2022 |
| FDXR | 1 | Dec 13, 2022 |
| FERMT3 | 3 | Dec 13, 2022 |
| FEZF1 | 1 | Dec 13, 2022 |
| FGA | 18 | Dec 13, 2022 |
| FGB | 1 | Dec 13, 2022 |
| FGD1 | 2 | Dec 13, 2022 |
| FGF10 | 1 | Dec 13, 2022 |
| FGF12 | 2 | Dec 13, 2022 |
| FGF23 | 16 | Dec 13, 2022 |
| FGF3 | 1 | Nov 14, 2018 |
| FGF8 | 1 | Dec 13, 2022 |
| FGFR1 | 73 | Dec 13, 2022 |
| FGFR2 | 55 | Dec 13, 2022 |
| FGFR3 | 26 | Dec 13, 2022 |
| FGFRL1 | 1 | Dec 13, 2022 |
| FH | 23 | Dec 13, 2022 |
| FHL1 | 15 | Dec 13, 2022 |
| FIG4 | 8 | Dec 13, 2022 |
| FKBP10 | 5 | Dec 13, 2022 |
| FKBP14 | 1 | Dec 13, 2022 |
| FKBP14-AS1 | 1 | Dec 13, 2022 |
| FKRP | 69 | Dec 13, 2022 |
| FKTN | 54 | Dec 13, 2022 |
| FKTN-AS1 | 1 | Dec 13, 2022 |
| FLAD1 | 1 | Dec 13, 2022 |
| FLCN | 110 | Dec 13, 2022 |
| FLG | 9 | Dec 13, 2022 |
| FLNA | 39 | Dec 13, 2022 |
| FLNB | 18 | Dec 13, 2022 |
| FLNC | 131 | Dec 13, 2022 |
| FLNC-AS1 | 40 | Dec 13, 2022 |
| FLVCR1 | 3 | Dec 13, 2022 |
| FMN2 | 2 | Dec 13, 2022 |
| FMO3 | 5 | Dec 13, 2022 |
| FMR1 | 3 | Dec 13, 2022 |
| FN1 | 127 | Dec 13, 2022 |
| FNDC8 | 1 | Dec 13, 2022 |
| FOLR1 | 2 | Dec 13, 2022 |
| FOXC1 | 27 | Dec 13, 2022 |
| FOXC2 | 4 | Dec 13, 2022 |
| FOXE1 | 1 | Dec 13, 2022 |
| FOXE3 | 1 | Dec 13, 2022 |
| FOXF1 | 1 | Dec 13, 2022 |
| FOXG1 | 3 | Dec 13, 2022 |
| FOXI1 | 11 | Dec 13, 2022 |
| FOXL2 | 3 | Dec 13, 2022 |
| FOXN1 | 3 | Dec 13, 2022 |
| FOXP1 | 2 | Dec 13, 2022 |
| FOXP2 | 7 | Dec 13, 2022 |
| FOXP3 | 28 | Dec 13, 2022 |
| FOXRED1 | 3 | Dec 13, 2022 |
| FPGT-TNNI3K | 2 | Dec 13, 2022 |
| FRA11B | 2 | Dec 13, 2022 |
| FRAS1 | 164 | Dec 13, 2022 |
| FREM1 | 65 | Dec 13, 2022 |
| FREM2 | 101 | Dec 13, 2022 |
| FRMD4A | 2 | Dec 13, 2022 |
| FRMD7 | 1 | Dec 13, 2022 |
| FRMPD4 | 3 | Dec 13, 2022 |
| FSCN2 | 5 | Dec 13, 2022 |
| FTCD | 7 | Dec 13, 2022 |
| FTCD-AS1 | 1 | Dec 13, 2022 |
| FTH1 | 1 | Dec 13, 2022 |
| FTL | 2 | Dec 13, 2022 |
| FTSJ1 | 1 | Dec 13, 2022 |
| FUCA1 | 4 | Dec 13, 2022 |
| FUS | 4 | Dec 13, 2022 |
| FUT2 | 1 | Dec 13, 2022 |
| FUZ | 1 | Dec 13, 2022 |
| FXR1 | 1 | Dec 13, 2022 |
| FXYD2 | 10 | Dec 13, 2022 |
| FXYD6-FXYD2 | 10 | Dec 13, 2022 |
| FYCO1 | 3 | Dec 13, 2022 |
| FZD4 | 2 | Dec 13, 2022 |
| G6PC1 | 38 | Dec 13, 2022 |
| G6PC3 | 1 | Dec 13, 2022 |
| G6PD | 13 | Dec 13, 2022 |
| GAA | 184 | Dec 13, 2022 |
| GABBR2 | 3 | Dec 13, 2022 |
| GABRA1 | 1 | Dec 13, 2022 |
| GABRA5 | 1 | Dec 13, 2022 |
| GABRB2 | 3 | Dec 13, 2022 |
| GABRB3 | 2 | Nov 14, 2018 |
| GABRD | 4 | Dec 13, 2022 |
| GABRG2 | 2 | Dec 13, 2022 |
| GALC | 27 | Dec 13, 2022 |
| GALE | 7 | Dec 13, 2022 |
| GALK1 | 30 | Dec 13, 2022 |
| GALNS | 20 | Dec 13, 2022 |
| GALNT12 | 8 | Dec 13, 2022 |
| GALNT2 | 1 | Dec 13, 2022 |
| GALNT3 | 20 | Dec 13, 2022 |
| GALT | 20 | Dec 13, 2022 |
| GAMT | 20 | Dec 13, 2022 |
| GAN | 5 | Dec 13, 2022 |
| GANAB | 25 | Dec 13, 2022 |
| GAREM2 | 12 | Dec 13, 2022 |
| GARS1 | 2 | Nov 14, 2018 |
| GAS8 | 4 | Dec 13, 2022 |
| GATA1 | 6 | Dec 13, 2022 |
| GATA2 | 9 | Dec 13, 2022 |
| GATA3 | 15 | Dec 13, 2022 |
| GATA4 | 7 | Dec 13, 2022 |
| GATA6 | 8 | Dec 13, 2022 |
| GATAD1 | 18 | Dec 13, 2022 |
| GATAD2B | 1 | Dec 13, 2022 |
| GATM | 39 | Dec 13, 2022 |
| GBA1 | 56 | Dec 13, 2022 |
| GBE1 | 14 | Dec 13, 2022 |
| GBF1 | 1 | Dec 13, 2022 |
| GCDH | 29 | Dec 13, 2022 |
| GCH1 | 7 | Dec 13, 2022 |
| GCK | 35 | Dec 13, 2022 |
| GCKR | 6 | Dec 13, 2022 |
| GCM2 | 15 | Dec 13, 2022 |
| GCSH | 3 | Dec 13, 2022 |
| GDAP1 | 10 | Dec 13, 2022 |
| GDF1 | 2 | Dec 13, 2022 |
| GDF2 | 9 | Dec 13, 2022 |
| GDF3 | 1 | Dec 13, 2022 |
| GDF5 | 1 | Dec 13, 2022 |
| GDF5-AS1 | 1 | Dec 13, 2022 |
| GDF6 | 1 | Dec 13, 2022 |
| GDI1 | 1 | Dec 13, 2022 |
| GDNF | 6 | Dec 13, 2022 |
| GEMIN5 | 1 | Dec 13, 2022 |
| GFAP | 6 | Dec 13, 2022 |
| GFI1 | 6 | Dec 13, 2022 |
| GFI1B | 1 | Dec 13, 2022 |
| GFM1 | 10 | Dec 13, 2022 |
| GFM2 | 1 | Dec 13, 2022 |
| GFPT1 | 2 | Dec 13, 2022 |
| GGCX | 1 | Dec 13, 2022 |
| GH-LCR | 128 | Dec 13, 2022 |
| GH1 | 3 | Dec 13, 2022 |
| GHR | 2 | Dec 13, 2022 |
| GHRL | 1 | Dec 13, 2022 |
| GHRLOS | 1 | Dec 13, 2022 |
| GIPC3 | 4 | Dec 13, 2022 |
| GJA1 | 3 | Dec 13, 2022 |
| GJA3 | 1 | Dec 13, 2022 |
| GJA5 | 1 | Nov 14, 2018 |
| GJA8 | 1 | Dec 13, 2022 |
| GJB1 | 8 | Dec 13, 2022 |
| GJB2 | 60 | Dec 13, 2022 |
| GJB3 | 5 | Dec 13, 2022 |
| GJB4 | 2 | Dec 13, 2022 |
| GJB6 | 7 | Dec 13, 2022 |
| GJC2 | 2 | Dec 13, 2022 |
| GJD2-DT | 13 | Dec 13, 2022 |
| GLA | 50 | Dec 13, 2022 |
| GLB1 | 18 | Dec 13, 2022 |
| GLDC | 34 | Dec 13, 2022 |
| GLE1 | 3 | Dec 13, 2022 |
| GLI2 | 10 | Dec 13, 2022 |
| GLI3 | 86 | Dec 13, 2022 |
| GLIS2 | 28 | Dec 13, 2022 |
| GLIS3 | 55 | Dec 13, 2022 |
| GLIS3-AS1 | 7 | Dec 13, 2022 |
| GLMN | 2 | Dec 13, 2022 |
| GLRA1 | 5 | Dec 13, 2022 |
| GLRB | 2 | Dec 13, 2022 |
| GLUD1 | 1 | Dec 13, 2022 |
| GML | 14 | Dec 13, 2022 |
| GMPPA | 5 | Dec 13, 2022 |
| GMPPB | 3 | Dec 13, 2022 |
| GNA11 | 26 | Dec 13, 2022 |
| GNAL | 1 | Dec 13, 2022 |
| GNAO1 | 5 | Dec 13, 2022 |
| GNAS | 51 | Dec 13, 2022 |
| GNAS-AS1 | 1 | Dec 13, 2022 |
| GNAT1 | 2 | Dec 13, 2022 |
| GNB1 | 1 | Dec 13, 2022 |
| GNE | 19 | Dec 13, 2022 |
| GNG3 | 1 | Dec 13, 2022 |
| GNPAT | 5 | Dec 13, 2022 |
| GNPTAB | 24 | Dec 13, 2022 |
| GNPTG | 8 | Dec 13, 2022 |
| GNRHR | 7 | Dec 13, 2022 |
| GNS | 6 | Dec 13, 2022 |
| GOSR2 | 3 | Dec 13, 2022 |
| GP1BA | 4 | Dec 13, 2022 |
| GP1BB | 2 | Dec 13, 2022 |
| GP9 | 3 | Dec 13, 2022 |
| GPC3 | 25 | Dec 13, 2022 |
| GPC4 | 1 | Dec 13, 2022 |
| GPD1L | 27 | Dec 13, 2022 |
| GPHN | 15 | Dec 13, 2022 |
| GPI | 1 | Dec 13, 2022 |
| GPLD1 | 3 | Dec 13, 2022 |
| GPR143 | 1 | Dec 13, 2022 |
| GPR179 | 5 | Dec 13, 2022 |
| GPR19 | 1 | Dec 13, 2022 |
| GPSM2 | 7 | Dec 13, 2022 |
| GPX1 | 1 | Dec 13, 2022 |
| GRHL2 | 3 | Dec 13, 2022 |
| GRHL3 | 2 | Dec 13, 2022 |
| GRHPR | 32 | Dec 13, 2022 |
| GRIA2 | 1 | Dec 13, 2022 |
| GRIA3 | 2 | Dec 13, 2022 |
| GRIA4 | 1 | Dec 13, 2022 |
| GRIK2 | 1 | Dec 13, 2022 |
| GRIN1 | 2 | Dec 13, 2022 |
| GRIN2A | 14 | Dec 13, 2022 |
| GRIN2B | 7 | Dec 13, 2022 |
| GRIN2D | 1 | Dec 13, 2022 |
| GRIP1 | 24 | Dec 13, 2022 |
| GRM1 | 9 | Dec 13, 2022 |
| GRM6 | 2 | Dec 13, 2022 |
| GRN | 28 | Dec 13, 2022 |
| GRXCR1 | 1 | Dec 13, 2022 |
| GRXCR2 | 1 | Dec 13, 2022 |
| GSDME | 2 | Dec 13, 2022 |
| GSN | 86 | Dec 13, 2022 |
| GTF2H5 | 1 | Dec 13, 2022 |
| GTF3C2-AS2 | 2 | Dec 13, 2022 |
| GTPBP3 | 2 | Dec 13, 2022 |
| GUCY2D | 16 | Dec 13, 2022 |
| GUSB | 12 | Dec 13, 2022 |
| GYG1 | 7 | Dec 13, 2022 |
| GYS1 | 1 | Dec 13, 2022 |
| GYS2 | 7 | Dec 13, 2022 |
| H6PD | 2 | Dec 13, 2022 |
| HABP2 | 2 | Dec 13, 2022 |
| HACE1 | 1 | Dec 13, 2022 |
| HADH | 5 | Dec 13, 2022 |
| HADHA | 21 | Dec 13, 2022 |
| HADHB | 4 | Dec 13, 2022 |
| HARS1 | 1 | Dec 13, 2022 |
| HARS2 | 2 | Dec 13, 2022 |
| HAVCR2 | 1 | Dec 13, 2022 |
| HAX1 | 7 | Dec 13, 2022 |
| HBA1 | 7 | Dec 13, 2022 |
| HBA2 | 8 | Dec 13, 2022 |
| HBB | 50 | Dec 13, 2022 |
| HCFC1 | 7 | Dec 13, 2022 |
| HCN1 | 2 | Dec 13, 2022 |
| HCN4 | 74 | Dec 13, 2022 |
| HDAC4 | 5 | Dec 13, 2022 |
| HDAC6 | 1 | Dec 13, 2022 |
| HDAC8 | 2 | Dec 13, 2022 |
| HECW2 | 5 | Dec 13, 2022 |
| HELLS | 1 | Dec 13, 2022 |
| HEPACAM | 7 | Dec 13, 2022 |
| HERC1 | 5 | Dec 13, 2022 |
| HERC2 | 5 | Dec 13, 2022 |
| HESX1 | 2 | Dec 13, 2022 |
| HEXA | 23 | Dec 13, 2022 |
| HEXB | 17 | Dec 13, 2022 |
| HFE | 10 | Dec 13, 2022 |
| HFE-AS1 | 3 | Dec 13, 2022 |
| HGD | 36 | Dec 13, 2022 |
| HGSNAT | 24 | Dec 13, 2022 |
| HHAT | 1 | Dec 13, 2022 |
| HIBCH | 1 | Dec 13, 2022 |
| HIGD2B | 1 | Dec 13, 2022 |
| HIVEP2 | 6 | Dec 13, 2022 |
| HJV | 3 | Dec 13, 2022 |
| HK1 | 4 | Dec 13, 2022 |
| HLCS | 10 | Dec 13, 2022 |
| HMBS | 3 | Dec 13, 2022 |
| HMCN1 | 7 | Dec 13, 2022 |
| HMGA2 | 1 | Dec 13, 2022 |
| HMGCL | 9 | Dec 13, 2022 |
| HMGCS2 | 1 | Dec 13, 2022 |
| HMOX1 | 1 | Dec 13, 2022 |
| HNF1A | 61 | Dec 13, 2022 |
| HNF1B | 35 | Dec 13, 2022 |
| HNF4A | 42 | Dec 13, 2022 |
| HNRNPA1 | 1 | Dec 13, 2022 |
| HNRNPDL | 2 | Dec 13, 2022 |
| HNRNPH2 | 1 | Nov 14, 2018 |
| HNRNPK | 1 | Nov 14, 2018 |
| HNRNPK-AS1 | 1 | Nov 14, 2018 |
| HNRNPU | 10 | Dec 13, 2022 |
| HNRNPUL2-BSCL2 | 43 | Dec 13, 2022 |
| HOGA1 | 34 | Dec 13, 2022 |
| HOXA13 | 10 | Dec 13, 2022 |
| HOXB1 | 1 | Dec 13, 2022 |
| HOXB13 | 7 | Dec 13, 2022 |
| HOXD13 | 5 | Dec 13, 2022 |
| HPD | 5 | Dec 13, 2022 |
| HPGD | 4 | Dec 13, 2022 |
| HPRT1 | 7 | Dec 13, 2022 |
| HPS1 | 80 | Dec 13, 2022 |
| HPS3 | 11 | Dec 13, 2022 |
| HPS4 | 4 | Dec 13, 2022 |
| HPS5 | 15 | Dec 13, 2022 |
| HPS6 | 7 | Dec 13, 2022 |
| HPSE2 | 14 | Dec 13, 2022 |
| HRAS | 15 | Dec 13, 2022 |
| HS2ST1 | 1 | Dec 13, 2022 |
| HS6ST2 | 1 | Dec 13, 2022 |
| HSALR1 | 6 | Dec 13, 2022 |
| HSD11B2 | 9 | Dec 13, 2022 |
| HSD17B10 | 1 | Dec 13, 2022 |
| HSD17B3 | 3 | Dec 13, 2022 |
| HSD17B3-AS1 | 3 | Dec 13, 2022 |
| HSD17B4 | 11 | Dec 13, 2022 |
| HSD3B2 | 18 | Dec 13, 2022 |
| HSD3B7 | 2 | Dec 13, 2022 |
| HSERVPRODH | 1 | Dec 13, 2022 |
| HSPA9 | 1 | Dec 13, 2022 |
| HSPB1 | 2 | Dec 13, 2022 |
| HSPB8 | 3 | Dec 13, 2022 |
| HSPD1 | 2 | Dec 13, 2022 |
| HSPG2 | 30 | Dec 13, 2022 |
| HTRA1 | 1 | Dec 13, 2022 |
| HTRA2 | 4 | Dec 13, 2022 |
| HTT | 3 | Dec 13, 2022 |
| HUWE1 | 8 | Dec 13, 2022 |
| HYCC1 | 2 | Dec 13, 2022 |
| HYLS1 | 3 | Dec 13, 2022 |
| HYOU1 | 3 | Dec 13, 2022 |
| IAH1 | 3 | Dec 13, 2022 |
| IARS1 | 1 | Dec 13, 2022 |
| IARS2 | 2 | Dec 13, 2022 |
| IBA57 | 1 | Dec 13, 2022 |
| IDH2 | 3 | Dec 13, 2022 |
| IDH3B | 2 | Dec 13, 2022 |
| IDS | 4 | Dec 13, 2022 |
| IDUA | 83 | Dec 13, 2022 |
| IFIH1 | 21 | Dec 13, 2022 |
| IFITM5 | 1 | Nov 14, 2018 |
| IFNAR2-IL10RB | 2 | Dec 13, 2022 |
| IFNGR1 | 2 | Dec 13, 2022 |
| IFT122 | 85 | Dec 13, 2022 |
| IFT140 | 255 | Dec 13, 2022 |
| IFT172 | 204 | Dec 13, 2022 |
| IFT43 | 37 | Dec 13, 2022 |
| IFT80 | 2 | Nov 14, 2018 |
| IGF1R | 6 | Dec 13, 2022 |
| IGF2 | 1 | Dec 13, 2022 |
| IGHMBP2 | 8 | Dec 13, 2022 |
| IGLL1 | 3 | Dec 13, 2022 |
| IGSF1 | 1 | Dec 13, 2022 |
| IHH | 1 | Dec 13, 2022 |
| IKBKG | 2 | Dec 13, 2022 |
| IL10RA | 4 | Dec 13, 2022 |
| IL10RB | 2 | Dec 13, 2022 |
| IL12RB1 | 3 | Dec 13, 2022 |
| IL17RA | 3 | Dec 13, 2022 |
| IL17RC | 2 | Dec 13, 2022 |
| IL18BP | 2 | Dec 13, 2022 |
| IL1RN | 3 | Dec 13, 2022 |
| IL21R | 2 | Dec 13, 2022 |
| IL21R-AS1 | 1 | Dec 13, 2022 |
| IL23R | 2 | Dec 13, 2022 |
| IL2RA | 3 | Dec 13, 2022 |
| IL2RG | 2 | Dec 13, 2022 |
| IL36RN | 4 | Dec 13, 2022 |
| IL7R | 7 | Dec 13, 2022 |
| ILDR1 | 5 | Dec 13, 2022 |
| IMPDH1 | 3 | Dec 13, 2022 |
| IMPG2 | 3 | Dec 13, 2022 |
| INCA1 | 2 | Dec 13, 2022 |
| INF2 | 157 | Dec 13, 2022 |
| INPP5E | 4 | Dec 13, 2022 |
| INPPL1 | 1 | Dec 13, 2022 |
| INS | 10 | Dec 13, 2022 |
| INS-IGF2 | 8 | Dec 13, 2022 |
| INSL3 | 1 | Dec 13, 2022 |
| INSL6 | 4 | Dec 13, 2022 |
| INSR | 17 | Dec 13, 2022 |
| INTU | 2 | Dec 13, 2022 |
| INVS | 92 | Dec 13, 2022 |
| IQCB1 | 61 | Dec 13, 2022 |
| IQCG | 5 | Dec 13, 2022 |
| IQSEC1 | 2 | Dec 13, 2022 |
| IQSEC2 | 6 | Dec 13, 2022 |
| IRAIN | 1 | Dec 13, 2022 |
| IRAK4 | 1 | Dec 13, 2022 |
| IRF2BPL | 4 | Dec 13, 2022 |
| IRF3 | 1 | Dec 13, 2022 |
| IRF6 | 1 | Nov 14, 2018 |
| IRF7 | 7 | Dec 13, 2022 |
| IRF8 | 3 | Dec 13, 2022 |
| IRS1 | 1 | Dec 13, 2022 |
| ISCU | 3 | Dec 13, 2022 |
| ITGA2B | 2 | Dec 13, 2022 |
| ITGA3 | 35 | Dec 13, 2022 |
| ITGA6 | 22 | Dec 13, 2022 |
| ITGA6-AS1 | 12 | Dec 13, 2022 |
| ITGA7 | 9 | Dec 13, 2022 |
| ITGA8 | 3 | Dec 13, 2022 |
| ITGB2 | 9 | Dec 13, 2022 |
| ITGB3 | 1 | Dec 13, 2022 |
| ITGB4 | 62 | Dec 13, 2022 |
| ITK | 1 | Dec 13, 2022 |
| ITM2B | 1 | Dec 13, 2022 |
| ITPA | 2 | Dec 13, 2022 |
| ITPR1 | 13 | Dec 13, 2022 |
| ITPR2 | 1 | Dec 13, 2022 |
| IVD | 11 | Dec 13, 2022 |
| IYD | 4 | Dec 13, 2022 |
| JAG1 | 112 | Dec 13, 2022 |
| JAK1 | 2 | Dec 13, 2022 |
| JAK2 | 4 | Dec 13, 2022 |
| JAK3 | 7 | Dec 13, 2022 |
| JAM3 | 1 | Dec 13, 2022 |
| JMJD8 | 1 | Dec 13, 2022 |
| JPH2 | 47 | Dec 13, 2022 |
| JPH3 | 1 | Dec 13, 2022 |
| JUP | 100 | Dec 13, 2022 |
| KAAG1 | 3 | Dec 13, 2022 |
| KANK1 | 88 | Dec 13, 2022 |
| KANK2 | 7 | Dec 13, 2022 |
| KANSL1 | 72 | Dec 13, 2022 |
| KARS1 | 2 | Dec 13, 2022 |
| KAT5 | 1 | Dec 13, 2022 |
| KAT6A | 4 | Dec 13, 2022 |
| KAT6B | 80 | Dec 13, 2022 |
| KATNIP | 2 | Dec 13, 2022 |
| KBTBD13 | 3 | Dec 13, 2022 |
| KCNA1 | 17 | Dec 13, 2022 |
| KCNA2 | 3 | Dec 13, 2022 |
| KCNA5 | 44 | Dec 13, 2022 |
| KCNB1 | 6 | Dec 13, 2022 |
| KCNC1 | 2 | Dec 13, 2022 |
| KCNC3 | 7 | Dec 13, 2022 |
| KCND3 | 16 | Dec 13, 2022 |
| KCNE1 | 38 | Dec 13, 2022 |
| KCNE2 | 15 | Dec 13, 2022 |
| KCNE3 | 12 | Dec 13, 2022 |
| KCNH1 | 5 | Dec 13, 2022 |
| KCNH2 | 133 | Dec 13, 2022 |
| KCNH5 | 1 | Nov 14, 2018 |
| KCNJ1 | 19 | Dec 13, 2022 |
| KCNJ10 | 34 | Dec 13, 2022 |
| KCNJ11 | 30 | Dec 13, 2022 |
| KCNJ18 | 1 | Dec 13, 2022 |
| KCNJ2 | 35 | Dec 13, 2022 |
| KCNJ5 | 44 | Dec 13, 2022 |
| KCNK3 | 21 | Dec 13, 2022 |
| KCNK9 | 1 | Dec 13, 2022 |
| KCNMA1 | 7 | Dec 13, 2022 |
| KCNN3 | 1 | Dec 13, 2022 |
| KCNN4 | 1 | Dec 13, 2022 |
| KCNQ1 | 84 | Dec 13, 2022 |
| KCNQ1-AS1 | 9 | Dec 13, 2022 |
| KCNQ1OT1 | 4 | Dec 13, 2022 |
| KCNQ2 | 16 | Dec 13, 2022 |
| KCNQ3 | 16 | Dec 13, 2022 |
| KCNQ4 | 3 | Dec 13, 2022 |
| KCNQ5 | 1 | Dec 13, 2022 |
| KCNT1 | 16 | Dec 13, 2022 |
| KCNV2 | 4 | Dec 13, 2022 |
| KCTD1 | 2 | Dec 13, 2022 |
| KCTD17 | 1 | Nov 14, 2018 |
| KCTD7 | 1 | Nov 14, 2018 |
| KDM1A | 1 | Dec 13, 2022 |
| KDM3B | 1 | Jul 27, 2020 |
| KDM5B | 2 | Dec 13, 2022 |
| KDM5C | 4 | Dec 13, 2022 |
| KDM6A | 7 | Dec 13, 2022 |
| KDM6B | 1 | Dec 13, 2022 |
| KIAA0586 | 3 | Dec 13, 2022 |
| KIAA0753 | 3 | Dec 13, 2022 |
| KIAA1549 | 11 | Dec 13, 2022 |
| KIDINS220 | 4 | Dec 13, 2022 |
| KIF11 | 5 | Dec 13, 2022 |
| KIF14 | 2 | Dec 13, 2022 |
| KIF1A | 24 | Dec 13, 2022 |
| KIF1B | 4 | Dec 13, 2022 |
| KIF1C | 3 | Dec 13, 2022 |
| KIF21A | 3 | Dec 13, 2022 |
| KIF22 | 4 | Dec 13, 2022 |
| KIF2A | 1 | Dec 13, 2022 |
| KIF4A | 1 | Dec 13, 2022 |
| KIF5A | 4 | Dec 13, 2022 |
| KIF7 | 20 | Dec 13, 2022 |
| KIFBP | 3 | Dec 13, 2022 |
| KIRREL2 | 6 | Dec 13, 2022 |
| KIRREL3 | 2 | Nov 14, 2018 |
| KISS1R | 2 | Dec 13, 2022 |
| KIT | 15 | Dec 13, 2022 |
| KITLG | 1 | Dec 13, 2022 |
| KIZ | 5 | Dec 13, 2022 |
| KL | 38 | Dec 13, 2022 |
| KLC3 | 1 | Dec 13, 2022 |
| KLF1 | 2 | Dec 13, 2022 |
| KLF11 | 23 | Dec 13, 2022 |
| KLHL10 | 1 | Dec 13, 2022 |
| KLHL3 | 13 | Dec 13, 2022 |
| KLHL40 | 1 | Dec 13, 2022 |
| KLHL41 | 2 | Dec 13, 2022 |
| KLKB1 | 3 | Dec 13, 2022 |
| KLLN | 9 | Dec 13, 2022 |
| KMT2A | 18 | Dec 13, 2022 |
| KMT2B | 4 | Dec 13, 2022 |
| KMT2C | 14 | Dec 13, 2022 |
| KMT2D | 50 | Dec 13, 2022 |
| KMT5B | 1 | Dec 13, 2022 |
| KNL1 | 3 | Dec 13, 2022 |
| KPNA7 | 1 | Nov 14, 2018 |
| KPTN | 1 | Dec 13, 2022 |
| KRAS | 10 | Dec 13, 2022 |
| KREMEN1 | 2 | Dec 13, 2022 |
| KRIT1 | 1 | Dec 13, 2022 |
| KRT1 | 1 | Dec 13, 2022 |
| KRT10 | 5 | Dec 13, 2022 |
| KRT10-AS1 | 3 | Dec 13, 2022 |
| KRT14 | 6 | Dec 13, 2022 |
| KRT16 | 7 | Dec 13, 2022 |
| KRT17 | 4 | Dec 13, 2022 |
| KRT2 | 1 | Dec 13, 2022 |
| KRT5 | 3 | Dec 13, 2022 |
| KRT6A | 6 | Dec 13, 2022 |
| KRT6B | 4 | Dec 13, 2022 |
| KRT6C | 1 | Dec 13, 2022 |
| KRT81 | 4 | Dec 13, 2022 |
| KRT83 | 1 | Dec 13, 2022 |
| KRT86 | 4 | Dec 13, 2022 |
| KRT9 | 3 | Dec 13, 2022 |
| KRTCAP3 | 23 | Dec 13, 2022 |
| L1CAM | 5 | Dec 13, 2022 |
| L2HGDH | 5 | Dec 13, 2022 |
| LAGE3 | 1 | Dec 13, 2022 |
| LAMA1 | 8 | Dec 13, 2022 |
| LAMA2 | 87 | Dec 13, 2022 |
| LAMA3 | 12 | Dec 13, 2022 |
| LAMA4 | 127 | Dec 13, 2022 |
| LAMA4-AS1 | 5 | Dec 13, 2022 |
| LAMB2 | 148 | Dec 13, 2022 |
| LAMB3 | 15 | Dec 13, 2022 |
| LAMC2 | 2 | Dec 13, 2022 |
| LAMC3 | 20 | Dec 13, 2022 |
| LAMP2 | 25 | Dec 13, 2022 |
| LARGE1 | 3 | Dec 13, 2022 |
| LARS1 | 2 | Dec 13, 2022 |
| LARS2 | 3 | Dec 13, 2022 |
| LARS2-AS1 | 1 | Dec 13, 2022 |
| LAS1L | 2 | Dec 13, 2022 |
| LAT | 1 | Dec 13, 2022 |
| LBR | 4 | Dec 13, 2022 |
| LCA5 | 6 | Dec 13, 2022 |
| LCAT | 10 | Dec 13, 2022 |
| LCT | 5 | Dec 13, 2022 |
| LDB3 | 67 | Dec 13, 2022 |
| LDHA | 8 | Dec 13, 2022 |
| LDLR | 110 | Dec 13, 2022 |
| LDLR-AS1 | 3 | Dec 13, 2022 |
| LDLRAP1 | 24 | Dec 13, 2022 |
| LEMD3 | 1 | Dec 13, 2022 |
| LEPR | 4 | Dec 13, 2022 |
| LETM1 | 3 | Dec 13, 2022 |
| LFNG | 2 | Dec 13, 2022 |
| LGI1 | 4 | Dec 13, 2022 |
| LHB | 1 | Dec 13, 2022 |
| LHCGR | 4 | Dec 13, 2022 |
| LHFPL5 | 4 | Dec 13, 2022 |
| LHX3 | 6 | Dec 13, 2022 |
| LHX4 | 2 | Dec 13, 2022 |
| LHX4-AS1 | 1 | Dec 13, 2022 |
| LIAS | 1 | Dec 13, 2022 |
| LIFR | 11 | Dec 13, 2022 |
| LIG1 | 5 | Dec 13, 2022 |
| LIG4 | 10 | Dec 13, 2022 |
| LINC01389 | 1 | Dec 13, 2022 |
| LIPA | 8 | Dec 13, 2022 |
| LIPC | 1 | Dec 13, 2022 |
| LIPT1 | 1 | Nov 14, 2018 |
| LIPT2 | 2 | Dec 13, 2022 |
| LIPT2-AS1 | 1 | Dec 13, 2022 |
| LIX1L-AS1 | 4 | Dec 13, 2022 |
| LMBRD1 | 5 | Dec 13, 2022 |
| LMF1 | 8 | Dec 13, 2022 |
| LMNA | 120 | Dec 13, 2022 |
| LMNB1 | 1 | Dec 13, 2022 |
| LMOD3 | 1 | Dec 13, 2022 |
| LMX1B | 32 | Dec 13, 2022 |
| LOC100128494 | 1 | Dec 13, 2022 |
| LOC100130587 | 3 | Dec 13, 2022 |
| LOC100130744 | 2 | Dec 13, 2022 |
| LOC100507346 | 10 | Dec 13, 2022 |
| LOC101448202 | 11 | Dec 13, 2022 |
| LOC101927055 | 14 | Dec 13, 2022 |
| LOC101927157 | 7 | Dec 13, 2022 |
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| LOC130065433 | 2 | Dec 13, 2022 |
| LOC130065509 | 2 | Dec 13, 2022 |
| LOC130065547 | 1 | Dec 13, 2022 |
| LOC130065586 | 1 | Dec 13, 2022 |
| LOC130065678 | 1 | Dec 13, 2022 |
| LOC130065679 | 1 | Dec 13, 2022 |
| LOC130065680 | 6 | Dec 13, 2022 |
| LOC130065998 | 1 | Dec 13, 2022 |
| LOC130066788 | 1 | Dec 13, 2022 |
| LOC130066960 | 2 | Dec 13, 2022 |
| LOC130067862 | 1 | Dec 13, 2022 |
| LOC130068202 | 1 | Dec 13, 2022 |
| LOC130068621 | 1 | Dec 13, 2022 |
| LOC130068679 | 1 | Dec 13, 2022 |
| LOC130068854 | 1 | Dec 13, 2022 |
| LOC132089829 | 2 | Dec 13, 2022 |
| LOC132090059 | 2 | Dec 13, 2022 |
| LOC132090450 | 7 | Dec 13, 2022 |
| LONP1 | 1 | Dec 13, 2022 |
| LOX | 3 | Dec 13, 2022 |
| LOXHD1 | 41 | Dec 13, 2022 |
| LPIN1 | 38 | Dec 13, 2022 |
| LPIN2 | 7 | Dec 13, 2022 |
| LPL | 12 | Dec 13, 2022 |
| LPO | 1 | Dec 13, 2022 |
| LRAT | 1 | Dec 13, 2022 |
| LRBA | 14 | Dec 13, 2022 |
| LRP2 | 376 | Dec 13, 2022 |
| LRP4 | 144 | Dec 13, 2022 |
| LRP4-AS1 | 34 | Dec 13, 2022 |
| LRP5 | 253 | Dec 13, 2022 |
| LRP6 | 3 | Dec 13, 2022 |
| LRPPRC | 18 | Dec 13, 2022 |
| LRRC37A2 | 3 | Dec 13, 2022 |
| LRRC53 | 1 | Dec 13, 2022 |
| LRRC56 | 19 | Dec 13, 2022 |
| LRRC8A | 3 | Dec 13, 2022 |
| LRRK1 | 1 | Dec 13, 2022 |
| LRRK2 | 64 | Dec 13, 2022 |
| LRSAM1 | 2 | Dec 13, 2022 |
| LRTOMT | 1 | Dec 13, 2022 |
| LSS | 2 | Dec 13, 2022 |
| LTBP2 | 25 | Dec 13, 2022 |
| LTBP3 | 4 | Dec 13, 2022 |
| LTBP4 | 7 | Dec 13, 2022 |
| LURAP1L-AS1 | 6 | Dec 13, 2022 |
| LYRM4 | 1 | Dec 13, 2022 |
| LYST | 46 | Dec 13, 2022 |
| LYZ | 4 | Dec 13, 2022 |
| LZTFL1 | 18 | Dec 13, 2022 |
| LZTR1 | 10 | Dec 13, 2022 |
| MACF1 | 7 | Dec 13, 2022 |
| MADD | 1 | Dec 13, 2022 |
| MAF | 5 | Dec 13, 2022 |
| MAFB | 8 | Dec 13, 2022 |
| MAG | 1 | Dec 13, 2022 |
| MAGED2 | 1 | Dec 13, 2022 |
| MAGEL2 | 10 | Dec 13, 2022 |
| MAGI2 | 26 | Dec 13, 2022 |
| MAGI2-AS3 | 1 | Dec 13, 2022 |
| MAGT1 | 1 | Dec 13, 2022 |
| MAK | 1 | Dec 13, 2022 |
| MALT1 | 3 | Dec 13, 2022 |
| MAMLD1 | 3 | Dec 13, 2022 |
| MAN1B1 | 6 | Dec 13, 2022 |
| MAN2B1 | 29 | Dec 13, 2022 |
| MANBA | 7 | Dec 13, 2022 |
| MAP1B | 2 | Dec 13, 2022 |
| MAP2K1 | 7 | Dec 13, 2022 |
| MAP2K2 | 12 | Dec 13, 2022 |
| MAP3K1 | 2 | Dec 13, 2022 |
| MAP3K20 | 1 | Dec 13, 2022 |
| MAP3K20-AS1 | 1 | Dec 13, 2022 |
| MAPKBP1 | 4 | Dec 13, 2022 |
| MAPT | 13 | Dec 13, 2022 |
| MARS1 | 1 | Nov 14, 2018 |
| MARS2 | 1 | Dec 13, 2022 |
| MARVELD2 | 5 | Dec 13, 2022 |
| MASP1 | 4 | Dec 13, 2022 |
| MAST1 | 1 | Dec 13, 2022 |
| MAT1A | 5 | Dec 13, 2022 |
| MAX | 1 | Nov 14, 2018 |
| MBD5 | 11 | Dec 13, 2022 |
| MBL2 | 1 | Dec 13, 2022 |
| MBOAT7 | 1 | Dec 13, 2022 |
| MBTPS1 | 2 | Dec 13, 2022 |
| MC1R | 15 | Dec 13, 2022 |
| MC2R | 4 | Dec 13, 2022 |
| MC4R | 24 | Dec 13, 2022 |
| MCCC1 | 24 | Dec 13, 2022 |
| MCCC2 | 12 | Dec 13, 2022 |
| MCEE | 2 | Dec 13, 2022 |
| MCIDAS | 1 | Dec 13, 2022 |
| MCM3AP | 1 | Dec 13, 2022 |
| MCM3AP-AS1 | 1 | Dec 13, 2022 |
| MCM4 | 1 | Dec 13, 2022 |
| MCM9 | 1 | Dec 13, 2022 |
| MCOLN1 | 7 | Dec 13, 2022 |
| MCPH1 | 17 | Dec 13, 2022 |
| MCPH1-AS1 | 4 | Dec 13, 2022 |
| MDH2 | 1 | Dec 13, 2022 |
| MECOM | 1 | Dec 13, 2022 |
| MECP2 | 22 | Dec 13, 2022 |
| MED12 | 14 | Dec 13, 2022 |
| MED13L | 8 | Dec 13, 2022 |
| MED17 | 8 | Dec 13, 2022 |
| MED23 | 7 | Dec 13, 2022 |
| MED25 | 3 | Dec 13, 2022 |
| MEFV | 132 | Dec 13, 2022 |
| MEGF10 | 2 | Dec 13, 2022 |
| MEGF8 | 2 | Dec 13, 2022 |
| MEN1 | 8 | Dec 13, 2022 |
| MERTK | 5 | Dec 13, 2022 |
| MET | 24 | Dec 13, 2022 |
| MFAP5 | 1 | Dec 13, 2022 |
| MFF | 2 | Dec 13, 2022 |
| MFF-DT | 151 | Dec 13, 2022 |
| MFN2 | 9 | Dec 13, 2022 |
| MFRP | 5 | Dec 13, 2022 |
| MFSD2A | 1 | Dec 13, 2022 |
| MFSD8 | 16 | Dec 13, 2022 |
| MGAT2 | 4 | Dec 13, 2022 |
| MGME1 | 1 | Dec 13, 2022 |
| MHRT | 43 | Dec 13, 2022 |
| MIB1 | 5 | Dec 13, 2022 |
| MICAL1 | 2 | Dec 13, 2022 |
| MID1 | 2 | Dec 13, 2022 |
| MILR1 | 1 | Dec 13, 2022 |
| MIPEP | 1 | Dec 13, 2022 |
| MIR3936HG | 1 | Dec 13, 2022 |
| MIR4685 | 1 | Dec 13, 2022 |
| MIR4713HG | 2 | Dec 13, 2022 |
| MIR4733HG | 4 | Dec 13, 2022 |
| MIR6084 | 3 | Dec 13, 2022 |
| MIR6511B1 | 1 | Dec 13, 2022 |
| MIR6766 | 1 | Dec 13, 2022 |
| MIR6886 | 1 | Dec 13, 2022 |
| MITD1 | 1 | Nov 14, 2018 |
| MITF | 8 | Dec 13, 2022 |
| MKKS | 42 | Dec 13, 2022 |
| MKS1 | 14 | Dec 13, 2022 |
| MLC1 | 11 | Dec 13, 2022 |
| MLH1 | 66 | Dec 13, 2022 |
| MLH3 | 7 | Dec 13, 2022 |
| MLPH | 1 | Dec 13, 2022 |
| MLXIPL | 2 | Dec 13, 2022 |
| MLYCD | 4 | Dec 13, 2022 |
| MMAA | 8 | Dec 13, 2022 |
| MMAB | 4 | Dec 13, 2022 |
| MMACHC | 67 | Dec 13, 2022 |
| MMADHC | 5 | Dec 13, 2022 |
| MME | 2 | Dec 13, 2022 |
| MMP1 | 1 | Dec 13, 2022 |
| MMP13 | 1 | Dec 13, 2022 |
| MMP19 | 1 | Dec 13, 2022 |
| MMP2 | 3 | Dec 13, 2022 |
| MMP21 | 1 | Dec 13, 2022 |
| MMP9 | 3 | Dec 13, 2022 |
| MMUT | 100 | Dec 13, 2022 |
| MNX1 | 21 | Dec 13, 2022 |
| MNX1-AS2 | 3 | Dec 13, 2022 |
| MOCOS | 54 | Dec 13, 2022 |
| MOCS1 | 8 | Dec 13, 2022 |
| MOCS2 | 4 | Dec 13, 2022 |
| MOGS | 8 | Dec 13, 2022 |
| MORC2 | 4 | Dec 13, 2022 |
| MPDU1 | 1 | Dec 13, 2022 |
| MPDZ | 2 | Dec 13, 2022 |
| MPI | 13 | Dec 13, 2022 |
| MPL | 18 | Dec 13, 2022 |
| MPO | 5 | Dec 13, 2022 |
| MPV17 | 6 | Dec 13, 2022 |
| MPZ | 5 | Dec 13, 2022 |
| MRAP | 1 | Dec 13, 2022 |
| MRAP-AS1 | 1 | Dec 13, 2022 |
| MRAP2 | 1 | Dec 13, 2022 |
| MRE11 | 24 | Dec 13, 2022 |
| MRPL36 | 1 | Dec 13, 2022 |
| MRPL44 | 1 | Dec 13, 2022 |
| MRPS12 | 2 | Dec 13, 2022 |
| MRPS22 | 1 | Dec 13, 2022 |
| MRTFA | 7 | Dec 13, 2022 |
| MS4A1 | 1 | Dec 13, 2022 |
| MSH2 | 59 | Dec 13, 2022 |
| MSH3 | 4 | Dec 13, 2022 |
| MSH6 | 84 | Dec 13, 2022 |
| MST1R | 1 | Dec 13, 2022 |
| MSTO1 | 1 | Dec 13, 2022 |
| MSX1 | 1 | Dec 13, 2022 |
| MT-CYB | 1 | Nov 14, 2018 |
| MT-ND4 | 2 | Nov 14, 2018 |
| MT-TL1 | 2 | Nov 14, 2018 |
| MTFMT | 3 | Dec 13, 2022 |
| MTHFD1 | 3 | Dec 13, 2022 |
| MTHFR | 17 | Dec 13, 2022 |
| MTMR10 | 13 | Dec 13, 2022 |
| MTMR14 | 1 | Dec 13, 2022 |
| MTO1 | 10 | Dec 13, 2022 |
| MTOR | 10 | Dec 13, 2022 |
| MTPAP | 1 | Nov 14, 2018 |
| MTR | 7 | Dec 13, 2022 |
| MTRFR | 1 | Dec 13, 2022 |
| MTRR | 11 | Dec 13, 2022 |
| MTTP | 8 | Dec 13, 2022 |
| MUC5B | 5 | Dec 13, 2022 |
| MUS81 | 1 | Nov 14, 2018 |
| MUSK | 2 | Dec 13, 2022 |
| MUTYH | 49 | Dec 13, 2022 |
| MVK | 45 | Dec 13, 2022 |
| MVP-DT | 8 | Dec 13, 2022 |
| MYBPC1 | 3 | Dec 13, 2022 |
| MYBPC3 | 173 | Dec 13, 2022 |
| MYCN | 10 | Dec 13, 2022 |
| MYCNOS | 3 | Dec 13, 2022 |
| MYH11 | 126 | Dec 13, 2022 |
| MYH14 | 10 | Dec 13, 2022 |
| MYH2 | 8 | Dec 13, 2022 |
| MYH3 | 5 | Dec 13, 2022 |
| MYH6 | 230 | Dec 13, 2022 |
| MYH7 | 204 | Dec 13, 2022 |
| MYH8 | 3 | Dec 13, 2022 |
| MYH9 | 114 | Dec 13, 2022 |
| MYHAS | 11 | Dec 13, 2022 |
| MYL1 | 1 | Dec 13, 2022 |
| MYL2 | 17 | Dec 13, 2022 |
| MYL3 | 21 | Dec 13, 2022 |
| MYL9 | 1 | Mar 9, 2020 |
| MYLK | 142 | Dec 13, 2022 |
| MYLK-AS1 | 16 | Dec 13, 2022 |
| MYLK2 | 5 | Dec 13, 2022 |
| MYO15A | 33 | Dec 13, 2022 |
| MYO18B | 5 | Dec 13, 2022 |
| MYO1A | 1 | Nov 14, 2018 |
| MYO1E | 55 | Dec 13, 2022 |
| MYO3A | 10 | Dec 13, 2022 |
| MYO5A | 2 | Dec 13, 2022 |
| MYO5B | 8 | Dec 13, 2022 |
| MYO6 | 9 | Dec 13, 2022 |
| MYO7A | 89 | Dec 13, 2022 |
| MYO9B | 1 | Dec 13, 2022 |
| MYOC | 4 | Dec 13, 2022 |
| MYOM1 | 3 | Nov 14, 2018 |
| MYOT | 4 | Dec 13, 2022 |
| MYOZ2 | 19 | Dec 13, 2022 |
| MYPN | 97 | Dec 13, 2022 |
| MYRF | 1 | Dec 13, 2022 |
| MYSM1 | 1 | Dec 13, 2022 |
| MYT1L | 3 | Dec 13, 2022 |
| NAA10 | 1 | Dec 13, 2022 |
| NAA15 | 2 | Dec 13, 2022 |
| NADK2 | 1 | Dec 13, 2022 |
| NADSYN1 | 1 | Dec 13, 2022 |
| NAGA | 4 | Dec 13, 2022 |
| NAGLU | 17 | Dec 13, 2022 |
| NAGS | 3 | Dec 13, 2022 |
| NALCN | 8 | Dec 13, 2022 |
| NAXD | 2 | Dec 13, 2022 |
| NBAS | 12 | Dec 13, 2022 |
| NBEA | 3 | Dec 13, 2022 |
| NBN | 60 | Dec 13, 2022 |
| NCAPG2 | 1 | Dec 13, 2022 |
| NCAPH2 | 8 | Dec 13, 2022 |
| NCF1 | 3 | Dec 13, 2022 |
| NCF2 | 3 | Dec 13, 2022 |
| NCF4 | 6 | Dec 13, 2022 |
| NCF4-AS1 | 3 | Dec 13, 2022 |
| NCR1 | 1 | Dec 13, 2022 |
| NCSTN | 3 | Dec 13, 2022 |
| NDE1 | 57 | Dec 13, 2022 |
| NDRG1 | 3 | Dec 13, 2022 |
| NDST1 | 4 | Dec 13, 2022 |
| NDUFA1 | 1 | Dec 13, 2022 |
| NDUFA10 | 2 | Dec 13, 2022 |
| NDUFA11 | 1 | Nov 14, 2018 |
| NDUFAF1 | 1 | Dec 13, 2022 |
| NDUFAF2 | 2 | Dec 13, 2022 |
| NDUFAF3 | 1 | Dec 13, 2022 |
| NDUFAF5 | 9 | Dec 13, 2022 |
| NDUFAF6 | 4 | Dec 13, 2022 |
| NDUFB11 | 1 | Nov 14, 2018 |
| NDUFB3 | 1 | Dec 13, 2022 |
| NDUFB9 | 2 | Dec 13, 2022 |
| NDUFS1 | 8 | Dec 13, 2022 |
| NDUFS2 | 1 | Dec 13, 2022 |
| NDUFS4 | 2 | Dec 13, 2022 |
| NDUFS6 | 4 | Dec 13, 2022 |
| NDUFS7 | 2 | Dec 13, 2022 |
| NDUFS8 | 2 | Nov 14, 2018 |
| NDUFV1 | 7 | Dec 13, 2022 |
| NDUFV2 | 1 | Dec 13, 2022 |
| NEB | 99 | Dec 13, 2022 |
| NEBL | 2 | May 23, 2017 |
| NEDD4L | 60 | Dec 13, 2022 |
| NEFH | 1 | Dec 13, 2022 |
| NEFL | 3 | Dec 13, 2022 |
| NEK1 | 5 | Dec 13, 2022 |
| NEK2 | 2 | Dec 13, 2022 |
| NEK8 | 44 | Dec 13, 2022 |
| NEU1 | 3 | Dec 13, 2022 |
| NEUROD1 | 27 | Dec 13, 2022 |
| NEUROG3 | 2 | Dec 13, 2022 |
| NEXMIF | 6 | Dec 13, 2022 |
| NEXN | 58 | Dec 13, 2022 |
| NF1 | 269 | Dec 13, 2022 |
| NF2 | 10 | Dec 13, 2022 |
| NFIA | 1 | Nov 14, 2018 |
| NFKB1 | 3 | Dec 13, 2022 |
| NFKB2 | 1 | Dec 13, 2022 |
| NFKBIA | 1 | Dec 13, 2022 |
| NGF | 2 | Dec 13, 2022 |
| NGF-AS1 | 2 | Dec 13, 2022 |
| NGLY1 | 10 | Dec 13, 2022 |
| NHEJ1 | 1 | Dec 13, 2022 |
| NHERF1 | 8 | Dec 13, 2022 |
| NHP2 | 3 | Dec 13, 2022 |
| NHS | 4 | Dec 13, 2022 |
| NICN1 | 1 | Dec 13, 2022 |
| NIN | 3 | Dec 13, 2022 |
| NIP7 | 1 | Nov 14, 2018 |
| NIPAL4-DT | 4 | Dec 13, 2022 |
| NIPBL | 15 | Dec 13, 2022 |
| NKAP | 1 | Dec 13, 2022 |
| NKIRAS1 | 1 | Dec 13, 2022 |
| NKX2-5 | 34 | Dec 13, 2022 |
| NLGN4X | 2 | Dec 13, 2022 |
| NLRC4 | 5 | Dec 13, 2022 |
| NLRP1 | 8 | Dec 13, 2022 |
| NLRP12 | 12 | Dec 13, 2022 |
| NLRP3 | 68 | Dec 13, 2022 |
| NLRP7 | 2 | Dec 13, 2022 |
| NME8 | 3 | Dec 13, 2022 |
| NMNAT1 | 1 | Nov 14, 2018 |
| NOBOX | 1 | Dec 13, 2022 |
| NOC3L | 8 | Dec 13, 2022 |
| NOD2 | 9 | Dec 13, 2022 |
| NONO | 1 | Dec 13, 2022 |
| NOS1AP | 2 | Dec 13, 2022 |
| NOS3 | 2 | Dec 13, 2022 |
| NOTCH1 | 71 | Dec 13, 2022 |
| NOTCH2 | 111 | Dec 13, 2022 |
| NOTCH3 | 46 | Dec 13, 2022 |
| NPAP1 | 2 | Dec 13, 2022 |
| NPC1 | 64 | Dec 13, 2022 |
| NPC2 | 6 | Dec 13, 2022 |
| NPHP1 | 74 | Dec 13, 2022 |
| NPHP3 | 152 | Dec 13, 2022 |
| NPHP3-ACAD11 | 153 | Dec 13, 2022 |
| NPHP3-AS1 | 22 | Dec 13, 2022 |
| NPHP4 | 256 | Dec 13, 2022 |
| NPHS1 | 125 | Dec 13, 2022 |
| NPHS2 | 32 | Dec 13, 2022 |
| NPM1 | 2 | Dec 13, 2022 |
| NPPA | 6 | Dec 13, 2022 |
| NPPA-AS1 | 5 | Dec 13, 2022 |
| NPR2 | 2 | Dec 13, 2022 |
| NR0B1 | 14 | Dec 13, 2022 |
| NR1H4 | 1 | Dec 13, 2022 |
| NR2E3 | 17 | Dec 13, 2022 |
| NR2F2 | 1 | Dec 13, 2022 |
| NR3C1 | 4 | Dec 13, 2022 |
| NR3C2 | 12 | Dec 13, 2022 |
| NRAS | 1 | Dec 13, 2022 |
| NRL | 4 | Dec 13, 2022 |
| NRXN1 | 27 | Dec 13, 2022 |
| NSD1 | 100 | Dec 13, 2022 |
| NSD2 | 1 | Dec 13, 2022 |
| NSDHL | 15 | Dec 13, 2022 |
| NSMCE3 | 2 | Dec 13, 2022 |
| NSMF | 1 | Dec 13, 2022 |
| NSUN2 | 4 | Dec 13, 2022 |
| NSUN6 | 31 | Dec 13, 2022 |
| NTHL1 | 9 | Dec 13, 2022 |
| NTRK1 | 11 | Dec 13, 2022 |
| NTRK2 | 8 | Dec 13, 2022 |
| NUMA1 | 2 | Dec 13, 2022 |
| NUP107 | 1 | Dec 13, 2022 |
| NUP205 | 2 | Dec 13, 2022 |
| NUP93 | 5 | Dec 13, 2022 |
| NXN | 2 | Dec 13, 2022 |
| OAT | 12 | Dec 13, 2022 |
| OBSL1 | 12 | Dec 13, 2022 |
| OCA2 | 25 | Dec 13, 2022 |
| OCLN | 1 | Dec 13, 2022 |
| OCRL | 25 | Dec 13, 2022 |
| ODAD1 | 8 | Dec 13, 2022 |
| ODAD2 | 6 | Dec 13, 2022 |
| ODAD3 | 5 | Dec 13, 2022 |
| OFD1 | 44 | Dec 13, 2022 |
| OPA1 | 4 | Dec 13, 2022 |
| OPA1-AS1 | 1 | Nov 14, 2018 |
| OPA3 | 6 | Dec 13, 2022 |
| OPHN1 | 6 | Dec 13, 2022 |
| OPLAH | 55 | Dec 13, 2022 |
| OPTN | 2 | Dec 13, 2022 |
| ORAI1 | 4 | Dec 13, 2022 |
| ORC1 | 3 | Dec 13, 2022 |
| ORC4 | 2 | Dec 13, 2022 |
| OSGEP | 1 | Dec 13, 2022 |
| OSTM1 | 1 | Dec 13, 2022 |
| OTC | 9 | Dec 13, 2022 |
| OTOA | 4 | Dec 13, 2022 |
| OTOF | 31 | Dec 13, 2022 |
| OTOG | 17 | Dec 13, 2022 |
| OTOGL | 10 | Dec 13, 2022 |
| OTOP2 | 1 | Dec 13, 2022 |
| OTUD6B | 1 | Dec 13, 2022 |
| OTULIN | 4 | Dec 13, 2022 |
| OTX2 | 2 | Dec 13, 2022 |
| OXCT1 | 2 | Dec 13, 2022 |
| OXTR | 20 | Dec 13, 2022 |
| P2RX2 | 1 | Dec 13, 2022 |
| P3H1 | 16 | Dec 13, 2022 |
| P3H2 | 2 | Dec 13, 2022 |
| P4HA2 | 1 | Dec 13, 2022 |
| P4HB | 1 | Dec 13, 2022 |
| PABPN1 | 1 | Dec 13, 2022 |
| PACRG | 1 | May 20, 2021 |
| PACS1 | 4 | Dec 13, 2022 |
| PACS2 | 3 | Dec 13, 2022 |
| PAFAH1B1 | 2 | Dec 13, 2022 |
| PAH | 95 | Dec 13, 2022 |
| PAK1 | 1 | Dec 13, 2022 |
| PAK6 | 1 | Dec 13, 2022 |
| PALB2 | 209 | Dec 13, 2022 |
| PANK2 | 5 | Dec 13, 2022 |
| PAPSS2 | 2 | Dec 13, 2022 |
| PARK7 | 9 | Dec 13, 2022 |
| PARN | 1 | Dec 13, 2022 |
| PAX2 | 39 | Dec 13, 2022 |
| PAX3 | 4 | Dec 13, 2022 |
| PAX4 | 16 | Dec 13, 2022 |
| PAX6 | 4 | Dec 13, 2022 |
| PAX8 | 1 | Dec 13, 2022 |
| PBX1 | 3 | Dec 13, 2022 |
| PC | 14 | Dec 13, 2022 |
| PCARE | 7 | Dec 13, 2022 |
| PCBD1 | 11 | Dec 13, 2022 |
| PCCA | 16 | Dec 13, 2022 |
| PCCB | 24 | Dec 13, 2022 |
| PCDH15 | 64 | Dec 13, 2022 |
| PCDH19 | 11 | Dec 13, 2022 |
| PCK1 | 2 | Dec 13, 2022 |
| PCK2 | 2 | Dec 13, 2022 |
| PCLO | 7 | Dec 13, 2022 |
| PCNT | 40 | Dec 13, 2022 |
| PCSK1 | 4 | Dec 13, 2022 |
| PCSK9 | 71 | Dec 13, 2022 |
| PCYT1A | 3 | Dec 13, 2022 |
| PDE10A | 1 | Dec 13, 2022 |
| PDE11A | 1 | Dec 13, 2022 |
| PDE1C | 1 | Dec 13, 2022 |
| PDE3A | 1 | Dec 13, 2022 |
| PDE3B | 20 | Dec 13, 2022 |
| PDE4D | 1 | Dec 13, 2022 |
| PDE6A | 11 | Dec 13, 2022 |
| PDE6B | 7 | Dec 13, 2022 |
| PDE6C | 3 | Dec 13, 2022 |
| PDGFRA | 10 | Dec 13, 2022 |
| PDGFRB | 1 | Dec 13, 2022 |
| PDHB | 1 | Dec 13, 2022 |
| PDHX | 6 | Dec 13, 2022 |
| PDK1-AS1 | 14 | Dec 13, 2022 |
| PDK3 | 1 | Dec 13, 2022 |
| PDSS1 | 21 | Dec 13, 2022 |
| PDSS2 | 17 | Dec 13, 2022 |
| PDX1 | 12 | Dec 13, 2022 |
| PDXK | 1 | Dec 13, 2022 |
| PDYN | 1 | Dec 13, 2022 |
| PDYN-AS1 | 1 | Dec 13, 2022 |
| PDZD7 | 8 | Dec 13, 2022 |
| PDZD9 | 1 | Dec 13, 2022 |
| PEPD | 4 | Dec 13, 2022 |
| PET100 | 5 | Dec 13, 2022 |
| PEX1 | 30 | Dec 13, 2022 |
| PEX10 | 10 | Dec 13, 2022 |
| PEX11B | 3 | Dec 13, 2022 |
| PEX12 | 10 | Dec 13, 2022 |
| PEX13 | 5 | Dec 13, 2022 |
| PEX14 | 8 | Dec 13, 2022 |
| PEX16 | 4 | Dec 13, 2022 |
| PEX19 | 6 | Dec 13, 2022 |
| PEX2 | 4 | Dec 13, 2022 |
| PEX26 | 5 | Dec 13, 2022 |
| PEX3 | 1 | Dec 13, 2022 |
| PEX5 | 4 | Dec 13, 2022 |
| PEX6 | 22 | Dec 13, 2022 |
| PEX7 | 13 | Dec 13, 2022 |
| PFAS | 1 | Dec 13, 2022 |
| PFKM | 4 | Dec 13, 2022 |
| PGAP1 | 3 | Dec 13, 2022 |
| PGBD3 | 2 | Dec 13, 2022 |
| PGK1 | 15 | Dec 13, 2022 |
| PGM3 | 3 | Dec 13, 2022 |
| PHC1 | 1 | Nov 14, 2018 |
| PHEX | 25 | Dec 13, 2022 |
| PHEX-AS1 | 1 | Dec 13, 2022 |
| PHF3 | 7 | Dec 13, 2022 |
| PHGDH | 4 | Dec 13, 2022 |
| PHKA1 | 1 | Dec 13, 2022 |
| PHKA2 | 7 | Dec 13, 2022 |
| PHKB | 4 | Dec 13, 2022 |
| PHKG2 | 3 | Dec 13, 2022 |
| PHOX2B | 8 | Dec 13, 2022 |
| PHOX2B-AS1 | 1 | Nov 14, 2018 |
| PHYH | 5 | Dec 13, 2022 |
| PI4KA | 1 | Dec 13, 2022 |
| PIBF1 | 5 | Dec 13, 2022 |
| PIEZO1 | 18 | Dec 13, 2022 |
| PIEZO2 | 5 | Dec 13, 2022 |
| PIGA | 2 | Dec 13, 2022 |
| PIGG | 2 | Dec 13, 2022 |
| PIGL | 2 | Nov 14, 2018 |
| PIGO | 10 | Dec 13, 2022 |
| PIGT | 1 | Dec 13, 2022 |
| PIGV | 8 | Dec 13, 2022 |
| PIK3CA | 5 | Dec 13, 2022 |
| PIK3CD | 9 | Dec 13, 2022 |
| PIK3R1 | 4 | Dec 13, 2022 |
| PIK3R2 | 3 | Dec 13, 2022 |
| PINK1 | 30 | Dec 13, 2022 |
| PINK1-AS | 18 | Dec 13, 2022 |
| PIRC66 | 2 | Dec 13, 2022 |
| PITPNM3 | 5 | Dec 13, 2022 |
| PJVK | 5 | Dec 13, 2022 |
| PKD1 | 508 | Nov 14, 2024 |
| PKD1-AS1 | 57 | Dec 13, 2022 |
| PKD1L1 | 5 | Dec 13, 2022 |
| PKD2 | 112 | Dec 13, 2022 |
| PKD2L2-DT | 4 | Dec 13, 2022 |
| PKHD1 | 343 | Dec 13, 2022 |
| PKLR | 6 | Dec 13, 2022 |
| PKP1 | 3 | Dec 13, 2022 |
| PKP2 | 70 | Dec 13, 2022 |
| PLA2G4A | 1 | Dec 13, 2022 |
| PLA2G6 | 34 | Dec 13, 2022 |
| PLAA | 2 | Dec 13, 2022 |
| PLCB1 | 6 | Dec 13, 2022 |
| PLCB4 | 2 | Dec 13, 2022 |
| PLCE1 | 41 | Dec 13, 2022 |
| PLCE1-AS1 | 2 | Dec 13, 2022 |
| PLCG2 | 177 | Dec 13, 2022 |
| PLD1 | 2 | Dec 13, 2022 |
| PLEC | 39 | Dec 13, 2022 |
| PLEKHG5 | 3 | Dec 13, 2022 |
| PLEKHM1 | 1 | Dec 13, 2022 |
| PLG | 32 | Dec 13, 2022 |
| PLIN1 | 1 | Dec 13, 2022 |
| PLK4 | 5 | Dec 13, 2022 |
| PLN | 15 | Dec 13, 2022 |
| PLOD1 | 13 | Dec 13, 2022 |
| PLOD3 | 1 | Dec 13, 2022 |
| PLP1 | 2 | Dec 13, 2022 |
| PLPBP | 1 | Dec 13, 2022 |
| PLUT | 4 | Dec 13, 2022 |
| PMM2 | 63 | Dec 13, 2022 |
| PMP22 | 6 | Dec 13, 2022 |
| PMPCA | 1 | Dec 13, 2022 |
| PMPCB | 1 | Dec 13, 2022 |
| PMS1 | 1 | Dec 13, 2022 |
| PMS2 | 73 | Dec 13, 2022 |
| PNKD | 1 | Dec 13, 2022 |
| PNKP | 19 | Dec 13, 2022 |
| PNP | 4 | Dec 13, 2022 |
| PNPLA1 | 1 | Dec 13, 2022 |
| PNPLA2 | 3 | Dec 13, 2022 |
| PNPLA6 | 3 | Dec 13, 2022 |
| PNPLA8 | 1 | Dec 13, 2022 |
| PNPO | 2 | Dec 13, 2022 |
| PNPT1 | 2 | Dec 13, 2022 |
| POF1B | 1 | Dec 13, 2022 |
| POGZ | 6 | Dec 13, 2022 |
| POLA1 | 5 | Dec 13, 2022 |
| POLD1 | 53 | Dec 13, 2022 |
| POLE | 114 | Dec 13, 2022 |
| POLG | 97 | Dec 13, 2022 |
| POLG2 | 1 | Dec 13, 2022 |
| POLGARF | 97 | Dec 13, 2022 |
| POLH | 1 | Dec 13, 2022 |
| POLR1C | 11 | Dec 13, 2022 |
| POLR2F | 5 | Dec 13, 2022 |
| POLR3A | 3 | Dec 13, 2022 |
| POLR3B | 7 | Dec 13, 2022 |
| POLR3H | 2 | Dec 13, 2022 |
| POLRMT | 2 | Dec 13, 2022 |
| POMC | 5 | Dec 13, 2022 |
| POMGNT1 | 20 | Dec 13, 2022 |
| POMGNT2 | 3 | Dec 13, 2022 |
| POMP | 2 | Dec 13, 2022 |
| POMT1 | 23 | Dec 13, 2022 |
| POMT2 | 16 | Dec 13, 2022 |
| PON3 | 2 | Nov 14, 2018 |
| POPDC1 | 1 | Dec 13, 2022 |
| POR | 11 | Dec 13, 2022 |
| PORCN | 1 | Dec 13, 2022 |
| POT1 | 2 | Dec 13, 2022 |
| POU1F1 | 2 | Dec 13, 2022 |
| POU3F4 | 1 | Dec 13, 2022 |
| POU4F3 | 2 | Dec 13, 2022 |
| PPARG | 1 | Dec 13, 2022 |
| PPM1D | 2 | Dec 13, 2022 |
| PPOX | 1 | Dec 13, 2022 |
| PPP1CB | 1 | Dec 13, 2022 |
| PPP2R1A | 2 | Dec 13, 2022 |
| PPP3CA | 28 | Dec 13, 2022 |
| PPT1 | 8 | Dec 13, 2022 |
| PQBP1 | 1 | Dec 13, 2022 |
| PRADX | 2 | Dec 13, 2022 |
| PRDM16 | 28 | Dec 13, 2022 |
| PRDM5 | 3 | Dec 13, 2022 |
| PREPL | 9 | Dec 13, 2022 |
| PRF1 | 13 | Dec 13, 2022 |
| PRG4 | 1 | Dec 13, 2022 |
| PRICKLE1 | 7 | Dec 13, 2022 |
| PRKAG2 | 23 | Dec 13, 2022 |
| PRKAR1A | 27 | Dec 13, 2022 |
| PRKAR1B | 1 | Nov 14, 2018 |
| PRKCD | 2 | Dec 13, 2022 |
| PRKCSH | 36 | Dec 13, 2022 |
| PRKD1 | 2 | Dec 13, 2022 |
| PRKDC | 9 | Dec 13, 2022 |
| PRKG1 | 7 | Dec 13, 2022 |
| PRKN | 39 | Dec 13, 2022 |
| PRKRA | 8 | Dec 13, 2022 |
| PRMT7 | 1 | Nov 14, 2018 |
| PRNP | 10 | Dec 13, 2022 |
| PROC | 27 | Dec 13, 2022 |
| PRODH | 43 | Dec 13, 2022 |
| PROK2 | 1 | Dec 13, 2022 |
| PROKR2 | 18 | Dec 13, 2022 |
| PROM1 | 10 | Dec 13, 2022 |
| PROP1 | 9 | Dec 13, 2022 |
| PROS1 | 24 | Dec 13, 2022 |
| PRPF3 | 1 | Dec 13, 2022 |
| PRPF31 | 4 | Dec 13, 2022 |
| PRPF31-AS1 | 2 | Dec 13, 2022 |
| PRPF6 | 1 | Dec 13, 2022 |
| PRPF8 | 11 | Dec 13, 2022 |
| PRPH | 1 | Dec 13, 2022 |
| PRPH2 | 1 | Dec 13, 2022 |
| PRPS1 | 8 | Dec 13, 2022 |
| PRRT2 | 8 | Dec 13, 2022 |
| PRSS1 | 5 | Dec 13, 2022 |
| PRSS12 | 4 | Dec 13, 2022 |
| PRSS23 | 1 | Nov 14, 2018 |
| PRSS56 | 1 | Dec 13, 2022 |
| PRX | 6 | Dec 13, 2022 |
| PSAP | 6 | Dec 13, 2022 |
| PSEN1 | 6 | Dec 13, 2022 |
| PSEN2 | 12 | Dec 13, 2022 |
| PSMB8 | 1 | Nov 14, 2018 |
| PSORS1C1 | 1 | Dec 13, 2022 |
| PSTPIP1 | 4 | Dec 13, 2022 |
| PTCH1 | 54 | Dec 13, 2022 |
| PTCH2 | 11 | Dec 13, 2022 |
| PTCHD1 | 1 | Dec 13, 2022 |
| PTCHD1-AS | 6 | Dec 13, 2022 |
| PTEN | 42 | Dec 13, 2022 |
| PTF1A | 4 | Dec 13, 2022 |
| PTH1R | 33 | Dec 13, 2022 |
| PTPN11 | 80 | Dec 13, 2022 |
| PTPRC | 7 | Dec 13, 2022 |
| PTPRJ | 1 | Dec 13, 2022 |
| PTPRO | 12 | Dec 13, 2022 |
| PTPRQ | 4 | Dec 13, 2022 |
| PTS | 5 | Dec 13, 2022 |
| PUF60 | 2 | Dec 13, 2022 |
| PURA | 2 | Dec 13, 2022 |
| PUS1 | 3 | Dec 13, 2022 |
| PUS10 | 1 | Nov 14, 2018 |
| PUS3 | 3 | Dec 13, 2022 |
| PYCR1 | 4 | Dec 13, 2022 |
| PYCR2 | 3 | Dec 13, 2022 |
| PYGL | 8 | Dec 13, 2022 |
| PYGM | 28 | Dec 13, 2022 |
| PYY | 1 | Dec 13, 2022 |
| QARS1 | 6 | Dec 13, 2022 |
| QDPR | 4 | Dec 13, 2022 |
| R3HDML-AS1 | 1 | Dec 13, 2022 |
| RAB11B | 1 | Dec 13, 2022 |
| RAB18 | 1 | Dec 13, 2022 |
| RAB23 | 3 | Dec 13, 2022 |
| RAB27A | 4 | Dec 13, 2022 |
| RAB33A | 7 | Dec 13, 2022 |
| RAB3GAP1 | 3 | Dec 13, 2022 |
| RAB3GAP2 | 2 | Nov 14, 2018 |
| RAB9B | 2 | Dec 13, 2022 |
| RAC1 | 1 | Dec 13, 2022 |
| RAC3 | 1 | Dec 13, 2022 |
| RAD21 | 5 | Dec 13, 2022 |
| RAD50 | 52 | Dec 13, 2022 |
| RAD51C | 77 | Dec 13, 2022 |
| RAD51D | 18 | Dec 13, 2022 |
| RAD51L3-RFFL | 18 | Dec 13, 2022 |
| RAF1 | 21 | Dec 13, 2022 |
| RAG1 | 14 | Dec 13, 2022 |
| RAG2 | 7 | Dec 13, 2022 |
| RAI1 | 18 | Dec 13, 2022 |
| RANBP2 | 16 | Dec 13, 2022 |
| RANGRF | 1 | Nov 14, 2018 |
| RAPSN | 19 | Dec 13, 2022 |
| RARB | 2 | Dec 13, 2022 |
| RARS1 | 2 | Dec 13, 2022 |
| RARS2 | 20 | Dec 13, 2022 |
| RASA1 | 11 | Dec 13, 2022 |
| RASGRP1 | 4 | Dec 13, 2022 |
| RAX | 2 | Dec 13, 2022 |
| RB1 | 11 | Dec 13, 2022 |
| RBBP8 | 6 | Dec 13, 2022 |
| RBCK1 | 3 | Dec 13, 2022 |
| RBFOX1 | 3 | Nov 14, 2018 |
| RBFOX3 | 2 | Nov 14, 2018 |
| RBM20 | 115 | Dec 13, 2022 |
| RBM8A | 5 | Dec 13, 2022 |
| RBP3 | 4 | Dec 13, 2022 |
| RD3 | 1 | Dec 13, 2022 |
| RDH12 | 10 | Dec 13, 2022 |
| RDH5 | 1 | Dec 13, 2022 |
| RDX | 3 | Dec 13, 2022 |
| RECQL4 | 78 | Dec 13, 2022 |
| RELA | 2 | Dec 13, 2022 |
| RELB | 1 | Dec 13, 2022 |
| RELN | 78 | Dec 13, 2022 |
| REN | 10 | Dec 13, 2022 |
| REPS1 | 1 | Dec 13, 2022 |
| RERE | 8 | Dec 13, 2022 |
| REST | 1 | Dec 13, 2022 |
| RET | 196 | Dec 13, 2022 |
| RETREG1 | 2 | Dec 13, 2022 |
| RFT1 | 3 | Dec 13, 2022 |
| RFX5 | 3 | Dec 13, 2022 |
| RFX6 | 3 | Dec 13, 2022 |
| RFXANK | 1 | Dec 13, 2022 |
| RGR | 1 | Dec 13, 2022 |
| RGS9 | 2 | Dec 13, 2022 |
| RGS9BP | 1 | Dec 13, 2022 |
| RHAG | 1 | Dec 13, 2022 |
| RHBDF2 | 3 | Dec 13, 2022 |
| RHO | 2 | Dec 13, 2022 |
| RHOBTB2 | 1 | Dec 13, 2022 |
| RHOH | 1 | Dec 13, 2022 |
| RIC3 | 1 | Dec 13, 2022 |
| RIF1 | 23 | Dec 13, 2022 |
| RIGI | 4 | Dec 13, 2022 |
| RIMS2 | 2 | Dec 13, 2022 |
| RIN2 | 7 | Dec 13, 2022 |
| RIPK1 | 3 | Dec 13, 2022 |
| RIPK4 | 1 | Dec 13, 2022 |
| RIPOR2 | 3 | Dec 13, 2022 |
| RIT1 | 10 | Dec 13, 2022 |
| RLBP1 | 2 | Dec 13, 2022 |
| RLIG1 | 9 | Dec 13, 2022 |
| RMND1 | 23 | Dec 13, 2022 |
| RMND5B | 2 | Dec 13, 2022 |
| RMRP | 49 | Dec 13, 2022 |
| RNASEH2A | 8 | Dec 13, 2022 |
| RNASEH2B | 10 | Dec 13, 2022 |
| RNASEH2B-AS1 | 1 | Dec 13, 2022 |
| RNASEH2C | 7 | Dec 13, 2022 |
| RNF125 | 2 | Dec 13, 2022 |
| RNF168 | 2 | Dec 13, 2022 |
| RNF17 | 1 | Nov 14, 2018 |
| RNF213 | 8 | Dec 13, 2022 |
| RNF213-AS1 | 6 | Dec 13, 2022 |
| RNF216 | 1 | Dec 13, 2022 |
| RNF43 | 2 | Dec 13, 2022 |
| RNU4ATAC | 8 | Dec 13, 2022 |
| ROBO2 | 23 | Dec 13, 2022 |
| ROBO3 | 2 | Dec 13, 2022 |
| ROBO4 | 1 | Dec 13, 2022 |
| ROGDI | 2 | Dec 13, 2022 |
| ROR1 | 1 | Dec 13, 2022 |
| ROR2 | 75 | Dec 13, 2022 |
| RORA | 1 | Dec 13, 2022 |
| RORA-AS1 | 1 | Dec 13, 2022 |
| RORC | 2 | Dec 13, 2022 |
| RP1 | 8 | Dec 13, 2022 |
| RP1L1 | 15 | Dec 13, 2022 |
| RP2 | 4 | Dec 13, 2022 |
| RP9 | 1 | Dec 13, 2022 |
| RPE65 | 18 | Dec 13, 2022 |
| RPGR | 10 | Dec 13, 2022 |
| RPGRIP1 | 6 | Dec 13, 2022 |
| RPGRIP1L | 160 | Dec 13, 2022 |
| RPL11 | 7 | Dec 13, 2022 |
| RPL15 | 1 | Dec 13, 2022 |
| RPL26 | 6 | Dec 13, 2022 |
| RPL35A | 5 | Dec 13, 2022 |
| RPL36A-HNRNPH2 | 50 | Dec 13, 2022 |
| RPL5 | 28 | Dec 13, 2022 |
| RPL6 | 1 | Dec 13, 2022 |
| RPS10 | 9 | Dec 13, 2022 |
| RPS10-NUDT3 | 9 | Dec 13, 2022 |
| RPS17 | 2 | Dec 13, 2022 |
| RPS19 | 14 | Dec 13, 2022 |
| RPS24 | 9 | Dec 13, 2022 |
| RPS26 | 15 | Dec 13, 2022 |
| RPS29 | 1 | Dec 13, 2022 |
| RPS6KA3 | 2 | Dec 13, 2022 |
| RPS7 | 9 | Dec 13, 2022 |
| RRM2B | 21 | Dec 13, 2022 |
| RRP8 | 2 | Dec 13, 2022 |
| RS1 | 5 | Dec 13, 2022 |
| RSPH1 | 4 | Dec 13, 2022 |
| RSPH3 | 2 | Dec 13, 2022 |
| RSPH4A | 7 | Dec 13, 2022 |
| RSPH9 | 2 | Dec 13, 2022 |
| RSPO1 | 1 | Dec 13, 2022 |
| RTEL1 | 33 | Dec 13, 2022 |
| RTEL1-TNFRSF6B | 33 | Dec 13, 2022 |
| RTN2 | 1 | Dec 13, 2022 |
| RTN4IP1 | 1 | Dec 13, 2022 |
| RTTN | 6 | Dec 13, 2022 |
| RUNX1 | 12 | Dec 13, 2022 |
| RUNX1-AS1 | 2 | Dec 13, 2022 |
| RUNX2 | 5 | Dec 13, 2022 |
| RUSC2 | 1 | Dec 13, 2022 |
| RUSF1 | 2 | Dec 13, 2022 |
| RUVBL1 | 1 | Dec 13, 2022 |
| RXYLT1 | 2 | Dec 13, 2022 |
| RXYLT1-AS1 | 1 | Dec 13, 2022 |
| RYR1 | 516 | Dec 13, 2022 |
| RYR2 | 204 | Dec 13, 2022 |
| RYR3 | 3 | Nov 14, 2018 |
| SACS | 42 | Dec 13, 2022 |
| SAG | 4 | Dec 13, 2022 |
| SALL1 | 48 | Dec 13, 2022 |
| SALL4 | 34 | Dec 13, 2022 |
| SAMD9 | 7 | Dec 13, 2022 |
| SAMD9L | 7 | Dec 13, 2022 |
| SAMHD1 | 7 | Dec 13, 2022 |
| SAR1B | 1 | Dec 13, 2022 |
| SARDH | 2 | Dec 13, 2022 |
| SARM1 | 2 | Dec 13, 2022 |
| SARS1 | 2 | Dec 13, 2022 |
| SARS2 | 25 | Dec 13, 2022 |
| SASH1 | 3 | Dec 13, 2022 |
| SATB2 | 7 | Dec 13, 2022 |
| SBDS | 4 | Dec 13, 2022 |
| SBF1 | 7 | Dec 13, 2022 |
| SBF2 | 7 | Dec 13, 2022 |
| SBF2-AS1 | 1 | Dec 13, 2022 |
| SCAPER | 1 | Dec 13, 2022 |
| SCARB2 | 54 | Dec 13, 2022 |
| SCN10A | 82 | Dec 13, 2022 |
| SCN11A | 4 | Dec 13, 2022 |
| SCN1A | 37 | Dec 13, 2022 |
| SCN1A-AS1 | 21 | Dec 13, 2022 |
| SCN1B | 26 | Dec 13, 2022 |
| SCN2A | 22 | Dec 13, 2022 |
| SCN2B | 13 | Dec 13, 2022 |
| SCN3A | 12 | Dec 13, 2022 |
| SCN3B | 13 | Dec 13, 2022 |
| SCN4A | 214 | Dec 13, 2022 |
| SCN4B | 17 | Dec 13, 2022 |
| SCN5A | 195 | Dec 13, 2022 |
| SCN8A | 12 | Dec 13, 2022 |
| SCN9A | 28 | Dec 13, 2022 |
| SCNN1A | 21 | Dec 13, 2022 |
| SCNN1B | 20 | Dec 13, 2022 |
| SCNN1G | 11 | Dec 13, 2022 |
| SCO1 | 19 | Dec 13, 2022 |
| SCO2 | 8 | Dec 13, 2022 |
| SCP2 | 1 | Dec 13, 2022 |
| SCYL1 | 1 | Dec 13, 2022 |
| SDCCAG8 | 74 | Dec 13, 2022 |
| SDHA | 69 | Dec 13, 2022 |
| SDHAF2 | 5 | Dec 13, 2022 |
| SDHB | 16 | Dec 13, 2022 |
| SDHC | 7 | Dec 13, 2022 |
| SDHD | 9 | Dec 13, 2022 |
| SEC23B | 5 | Dec 13, 2022 |
| SEC24D | 3 | Dec 13, 2022 |
| SEC61A1 | 1 | Dec 13, 2022 |
| SEC63 | 27 | Dec 13, 2022 |
| SELENON | 10 | Dec 13, 2022 |
| SEMA3A | 2 | Dec 13, 2022 |
| SEMA3E | 54 | Dec 13, 2022 |
| SEMA4A | 3 | Dec 13, 2022 |
| SEMA6B | 1 | Dec 13, 2022 |
| SEPSECS | 9 | Dec 13, 2022 |
| SEPT5-GP1BB | 2 | Dec 13, 2022 |
| SEPTIN9 | 2 | Dec 13, 2022 |
| SERAC1 | 8 | Dec 13, 2022 |
| SERPINA1 | 17 | Dec 13, 2022 |
| SERPINB6 | 2 | Dec 13, 2022 |
| SERPINB7 | 2 | Dec 13, 2022 |
| SERPINC1 | 16 | Dec 13, 2022 |
| SERPING1 | 2 | Dec 13, 2022 |
| SERPINH1 | 1 | Nov 14, 2018 |
| SERPINI1 | 1 | Dec 13, 2022 |
| SETBP1 | 8 | Dec 13, 2022 |
| SETD1A | 1 | Dec 13, 2022 |
| SETD2 | 7 | Dec 13, 2022 |
| SETD5 | 5 | Dec 13, 2022 |
| SETX | 13 | Dec 13, 2022 |
| SF3B1 | 1 | Dec 13, 2022 |
| SF3B4 | 1 | Dec 13, 2022 |
| SFTPA1 | 1 | Dec 13, 2022 |
| SGCA | 11 | Dec 13, 2022 |
| SGCB | 10 | Dec 13, 2022 |
| SGCD | 80 | Dec 13, 2022 |
| SGCE | 1 | Dec 13, 2022 |
| SGCG | 16 | Dec 13, 2022 |
| SGMS2 | 2 | Dec 13, 2022 |
| SGO1 | 1 | Dec 13, 2022 |
| SGO1-AS1 | 1 | Dec 13, 2022 |
| SGPL1 | 1 | Dec 13, 2022 |
| SGSH | 31 | Dec 13, 2022 |
| SH2B3 | 2 | Dec 13, 2022 |
| SH2D1A | 2 | Dec 13, 2022 |
| SH3BP2 | 10 | Dec 13, 2022 |
| SH3KBP1 | 1 | Dec 13, 2022 |
| SH3PXD2B | 3 | Dec 13, 2022 |
| SH3TC2 | 19 | Dec 13, 2022 |
| SHANK2 | 2 | Dec 13, 2022 |
| SHANK3 | 4 | Dec 13, 2022 |
| SHH | 3 | Dec 13, 2022 |
| SHOC2 | 10 | Dec 13, 2022 |
| SHOX | 2 | Dec 13, 2022 |
| SHPK | 1 | Dec 13, 2022 |
| SHROOM4 | 1 | Dec 13, 2022 |
| SI | 133 | Dec 13, 2022 |
| SIGMAR1 | 1 | Dec 13, 2022 |
| SIK1 | 10 | Dec 13, 2022 |
| SIK3 | 1 | Dec 13, 2022 |
| SIL1 | 2 | Dec 13, 2022 |
| SIN3A | 2 | Dec 13, 2022 |
| SIX1 | 6 | Dec 13, 2022 |
| SIX3 | 3 | Dec 13, 2022 |
| SIX5 | 27 | Dec 13, 2022 |
| SIX6 | 1 | Nov 14, 2018 |
| SKI | 13 | Dec 13, 2022 |
| SKIC2 | 5 | Dec 13, 2022 |
| SKIC3 | 8 | Dec 13, 2022 |
| SLA | 1 | Dec 13, 2022 |
| SLC10A1 | 3 | Dec 13, 2022 |
| SLC10A2 | 4 | Dec 13, 2022 |
| SLC12A1 | 52 | Dec 13, 2022 |
| SLC12A2 | 31 | Dec 13, 2022 |
| SLC12A3 | 127 | Dec 13, 2022 |
| SLC12A4 | 2 | Dec 13, 2022 |
| SLC12A5 | 6 | Dec 13, 2022 |
| SLC12A5-AS1 | 1 | Dec 13, 2022 |
| SLC12A6 | 8 | Dec 13, 2022 |
| SLC13A5 | 5 | Dec 13, 2022 |
| SLC16A1 | 2 | Dec 13, 2022 |
| SLC16A12 | 6 | Dec 13, 2022 |
| SLC16A12-AS1 | 1 | Dec 13, 2022 |
| SLC16A2 | 3 | Dec 13, 2022 |
| SLC17A5 | 9 | Dec 13, 2022 |
| SLC17A8 | 6 | Dec 13, 2022 |
| SLC19A1 | 14 | Dec 13, 2022 |
| SLC19A2 | 3 | Dec 13, 2022 |
| SLC19A3 | 6 | Dec 13, 2022 |
| SLC1A3 | 5 | Dec 13, 2022 |
| SLC20A2 | 3 | Dec 13, 2022 |
| SLC22A12 | 26 | Dec 13, 2022 |
| SLC22A5 | 61 | Dec 13, 2022 |
| SLC24A1 | 1 | Dec 13, 2022 |
| SLC25A12 | 1 | Nov 14, 2018 |
| SLC25A13 | 11 | Dec 13, 2022 |
| SLC25A15 | 7 | Dec 13, 2022 |
| SLC25A19 | 2 | Nov 14, 2018 |
| SLC25A20 | 5 | Dec 13, 2022 |
| SLC25A22 | 3 | Dec 13, 2022 |
| SLC25A24 | 1 | Nov 14, 2018 |
| SLC25A32 | 1 | Dec 13, 2022 |
| SLC25A35 | 1 | Nov 14, 2018 |
| SLC25A4 | 17 | Dec 13, 2022 |
| SLC26A1 | 66 | Dec 13, 2022 |
| SLC26A11 | 1 | Dec 13, 2022 |
| SLC26A2 | 11 | Dec 13, 2022 |
| SLC26A3 | 3 | Dec 13, 2022 |
| SLC26A4 | 63 | Dec 13, 2022 |
| SLC26A4-AS1 | 4 | Dec 13, 2022 |
| SLC26A5 | 4 | Dec 13, 2022 |
| SLC26A5-AS1 | 15 | Dec 13, 2022 |
| SLC29A3 | 5 | Dec 13, 2022 |
| SLC2A1 | 11 | Dec 13, 2022 |
| SLC2A10 | 9 | Dec 13, 2022 |
| SLC2A2 | 19 | Dec 13, 2022 |
| SLC2A9 | 27 | Dec 13, 2022 |
| SLC2A9-AS1 | 4 | Dec 13, 2022 |
| SLC33A1 | 2 | Dec 13, 2022 |
| SLC34A1 | 43 | Dec 13, 2022 |
| SLC34A3 | 97 | Dec 13, 2022 |
| SLC35A2 | 3 | Dec 13, 2022 |
| SLC35A3 | 2 | Dec 13, 2022 |
| SLC35C1 | 6 | Dec 13, 2022 |
| SLC35D2-HSD17B3 | 3 | Dec 13, 2022 |
| SLC36A2 | 10 | Dec 13, 2022 |
| SLC37A4 | 59 | Dec 13, 2022 |
| SLC38A8 | 2 | Dec 13, 2022 |
| SLC39A13 | 4 | Dec 13, 2022 |
| SLC39A14 | 1 | Dec 13, 2022 |
| SLC39A4 | 11 | Dec 13, 2022 |
| SLC3A1 | 46 | Dec 13, 2022 |
| SLC40A1 | 4 | Dec 13, 2022 |
| SLC41A1 | 2 | Dec 13, 2022 |
| SLC45A1 | 1 | Dec 13, 2022 |
| SLC45A2 | 9 | Dec 13, 2022 |
| SLC46A1 | 6 | Dec 13, 2022 |
| SLC4A1 | 48 | Dec 13, 2022 |
| SLC4A11 | 10 | Dec 13, 2022 |
| SLC4A4 | 17 | Dec 13, 2022 |
| SLC52A2 | 5 | Dec 13, 2022 |
| SLC52A3 | 9 | Dec 13, 2022 |
| SLC5A1 | 36 | Dec 13, 2022 |
| SLC5A2 | 20 | Dec 13, 2022 |
| SLC5A5 | 2 | Dec 13, 2022 |
| SLC5A6 | 1 | Dec 13, 2022 |
| SLC5A7 | 3 | Dec 13, 2022 |
| SLC6A1 | 7 | Dec 13, 2022 |
| SLC6A1-AS1 | 1 | Nov 14, 2018 |
| SLC6A19 | 59 | Dec 13, 2022 |
| SLC6A20 | 19 | Dec 13, 2022 |
| SLC6A3 | 12 | Dec 13, 2022 |
| SLC6A5 | 2 | Dec 13, 2022 |
| SLC6A8 | 5 | Dec 13, 2022 |
| SLC7A14 | 4 | Dec 13, 2022 |
| SLC7A14-AS1 | 3 | Dec 13, 2022 |
| SLC7A7 | 63 | Dec 13, 2022 |
| SLC7A9 | 35 | Dec 13, 2022 |
| SLC9A1 | 1 | Dec 13, 2022 |
| SLC9A3R1-AS1 | 3 | Dec 13, 2022 |
| SLC9A6 | 2 | Dec 13, 2022 |
| SLC9A9 | 1 | Dec 13, 2022 |
| SLC9B1 | 4 | Dec 13, 2022 |
| SLITRK6 | 4 | Dec 13, 2022 |
| SLX4 | 292 | Dec 13, 2022 |
| SMAD2 | 1 | Dec 13, 2022 |
| SMAD3 | 14 | Dec 13, 2022 |
| SMAD4 | 25 | Dec 13, 2022 |
| SMAD6 | 4 | Dec 13, 2022 |
| SMAD9 | 14 | Dec 13, 2022 |
| SMARCA2 | 9 | Dec 13, 2022 |
| SMARCA4 | 46 | Dec 13, 2022 |
| SMARCAL1 | 97 | Dec 13, 2022 |
| SMARCB1 | 1 | Dec 13, 2022 |
| SMARCC2 | 2 | Dec 13, 2022 |
| SMARCD2 | 1 | Dec 13, 2022 |
| SMARCE1 | 2 | Dec 13, 2022 |
| SMC1A | 34 | Dec 13, 2022 |
| SMC3 | 4 | Dec 13, 2022 |
| SMCHD1 | 4 | Dec 13, 2022 |
| SMG9 | 1 | Dec 13, 2022 |
| SMN1 | 1 | Dec 13, 2022 |
| SMO | 1 | Dec 13, 2022 |
| SMOC1 | 1 | Dec 13, 2022 |
| SMPD1 | 26 | Dec 13, 2022 |
| SMS | 3 | Dec 13, 2022 |
| SNAP29 | 3 | Dec 13, 2022 |
| SNCA | 9 | Dec 13, 2022 |
| SNHG14 | 3 | Dec 13, 2022 |
| SNHG22 | 2 | Dec 13, 2022 |
| SNHG31 | 2 | Dec 13, 2022 |
| SNHG8 | 1 | Dec 13, 2022 |
| SNIP1 | 1 | Dec 13, 2022 |
| SNRNP200 | 6 | Dec 13, 2022 |
| SNTA1 | 45 | Dec 13, 2022 |
| SNX10 | 1 | Dec 13, 2022 |
| SNX14 | 1 | Dec 13, 2022 |
| SOBP | 3 | Dec 13, 2022 |
| SOD1 | 3 | Dec 13, 2022 |
| SOD1-DT | 1 | Nov 14, 2018 |
| SON | 3 | Dec 13, 2022 |
| SOS1 | 90 | Dec 13, 2022 |
| SOS2 | 12 | Dec 13, 2022 |
| SOX10 | 5 | Dec 13, 2022 |
| SOX17 | 5 | Dec 13, 2022 |
| SOX18 | 3 | Dec 13, 2022 |
| SOX3 | 2 | Dec 13, 2022 |
| SOX9 | 1 | Dec 13, 2022 |
| SP110 | 2 | Dec 13, 2022 |
| SP7 | 3 | Dec 13, 2022 |
| SPAG1 | 13 | Dec 13, 2022 |
| SPARC | 1 | Dec 13, 2022 |
| SPART | 1 | Nov 14, 2018 |
| SPAST | 7 | Dec 13, 2022 |
| SPATA22 | 11 | Dec 13, 2022 |
| SPATA7 | 3 | Dec 13, 2022 |
| SPECC1L | 4 | Dec 13, 2022 |
| SPECC1L-ADORA2A | 4 | Dec 13, 2022 |
| SPEF2 | 2 | Dec 13, 2022 |
| SPEG | 4 | Dec 13, 2022 |
| SPEN | 1 | Dec 13, 2022 |
| SPG11 | 29 | Dec 13, 2022 |
| SPG7 | 21 | Dec 13, 2022 |
| SPINK1 | 3 | Dec 13, 2022 |
| SPINK5 | 5 | Dec 13, 2022 |
| SPNS2 | 1 | Dec 13, 2022 |
| SPR | 4 | Dec 13, 2022 |
| SPRED1 | 1 | Dec 13, 2022 |
| SPTA1 | 7 | Dec 13, 2022 |
| SPTAN1 | 21 | Dec 13, 2022 |
| SPTB | 3 | Dec 13, 2022 |
| SPTBN2 | 6 | Dec 13, 2022 |
| SPTLC1 | 6 | Dec 13, 2022 |
| SPTLC2 | 4 | Dec 13, 2022 |
| SQSTM1 | 2 | Dec 13, 2022 |
| SRCAP | 108 | Dec 13, 2022 |
| SRD5A2 | 4 | Dec 13, 2022 |
| SRD5A3 | 3 | Dec 13, 2022 |
| SRD5A3-AS1 | 2 | Dec 13, 2022 |
| SRFBP1 | 3 | Dec 13, 2022 |
| SRGAP1 | 1 | Dec 13, 2022 |
| SRP54 | 2 | Dec 13, 2022 |
| SRP72 | 3 | Dec 13, 2022 |
| SRPX2 | 3 | Dec 13, 2022 |
| SSUH2 | 4 | Dec 13, 2022 |
| ST3GAL3 | 4 | Dec 13, 2022 |
| ST3GAL4 | 2 | Nov 14, 2018 |
| ST3GAL5 | 4 | Dec 13, 2022 |
| STAC3 | 1 | Nov 14, 2018 |
| STAG1 | 1 | Dec 13, 2022 |
| STAG2 | 2 | Dec 13, 2022 |
| STAR | 26 | Dec 13, 2022 |
| STAT1 | 1 | Dec 13, 2022 |
| STAT2 | 1 | Dec 13, 2022 |
| STAT3 | 1 | Dec 13, 2022 |
| STAT5B | 4 | Dec 13, 2022 |
| STIL | 10 | Dec 13, 2022 |
| STIM1 | 5 | Dec 13, 2022 |
| STING1 | 3 | Dec 13, 2022 |
| STK11 | 17 | Dec 13, 2022 |
| STK36 | 2 | Dec 13, 2022 |
| STN1 | 2 | Dec 13, 2022 |
| STON1-GTF2A1L | 4 | Dec 13, 2022 |
| STRA6 | 2 | Dec 13, 2022 |
| STRC | 4 | Dec 13, 2022 |
| STS | 2 | Dec 13, 2022 |
| STT3A | 1 | Dec 13, 2022 |
| STT3B | 1 | Dec 13, 2022 |
| STUB1 | 1 | Dec 13, 2022 |
| STX11 | 5 | Dec 13, 2022 |
| STX16 | 5 | Dec 13, 2022 |
| STX16-NPEPL1 | 5 | Dec 13, 2022 |
| STX1B | 3 | Dec 13, 2022 |
| STXBP1 | 8 | Dec 13, 2022 |
| STXBP2 | 12 | Dec 13, 2022 |
| SUCLA2 | 1 | Dec 13, 2022 |
| SUCLG1 | 3 | Dec 13, 2022 |
| SUFU | 9 | Dec 13, 2022 |
| SUGCT | 1 | Nov 14, 2018 |
| SULF1 | 1 | Nov 14, 2018 |
| SUMF1 | 8 | Dec 13, 2022 |
| SUOX | 4 | Dec 13, 2022 |
| SURF1 | 11 | Dec 13, 2022 |
| SUZ12 | 2 | Dec 13, 2022 |
| SVIL | 2 | Dec 13, 2022 |
| SVIL-AS1 | 1 | Dec 13, 2022 |
| SYCE2 | 2 | Dec 13, 2022 |
| SYN1 | 2 | Dec 13, 2022 |
| SYN3 | 1 | Dec 13, 2022 |
| SYNE1 | 45 | Dec 13, 2022 |
| SYNE2 | 16 | Dec 13, 2022 |
| SYNE4 | 1 | Dec 13, 2022 |
| SYNGAP1 | 14 | Dec 13, 2022 |
| SYNGAP1-AS1 | 7 | Dec 13, 2022 |
| SYNJ1 | 2 | Dec 13, 2022 |
| SZT2 | 24 | Dec 13, 2022 |
| SZT2-AS1 | 2 | Dec 13, 2022 |
| TAB2 | 3 | Dec 13, 2022 |
| TACO1 | 10 | Dec 13, 2022 |
| TACR3 | 4 | Dec 13, 2022 |
| TACR3-AS1 | 3 | Dec 13, 2022 |
| TACSTD2 | 1 | Dec 13, 2022 |
| TAF1 | 6 | Dec 13, 2022 |
| TAF2 | 2 | Dec 13, 2022 |
| TAGAP-AS1 | 1 | Dec 13, 2022 |
| TANGO2 | 1 | Dec 13, 2022 |
| TAP1 | 5 | Dec 13, 2022 |
| TAP2 | 5 | Dec 13, 2022 |
| TAPBP | 2 | Dec 13, 2022 |
| TARID | 15 | Dec 13, 2022 |
| TARS1 | 1 | Dec 13, 2022 |
| TARS2 | 1 | Dec 13, 2022 |
| TAT | 3 | Dec 13, 2022 |
| TAT-AS1 | 3 | Dec 13, 2022 |
| TATDN1 | 2 | Dec 13, 2022 |
| TBC1D24 | 13 | Dec 13, 2022 |
| TBCD | 2 | Dec 13, 2022 |
| TBCE | 3 | Dec 13, 2022 |
| TBCEL-TECTA | 10 | Dec 13, 2022 |
| TBCK | 3 | Dec 13, 2022 |
| TBK1 | 4 | Dec 13, 2022 |
| TBL1XR1 | 1 | Dec 13, 2022 |
| TBL1Y | 1 | Dec 13, 2022 |
| TBR1 | 1 | Dec 13, 2022 |
| TBX1 | 9 | Dec 13, 2022 |
| TBX18 | 1 | Dec 13, 2022 |
| TBX2 | 1 | Dec 13, 2022 |
| TBX20 | 16 | Dec 13, 2022 |
| TBX22 | 2 | Dec 13, 2022 |
| TBX3 | 1 | Dec 13, 2022 |
| TBX5 | 19 | Dec 13, 2022 |
| TBX6 | 2 | Dec 13, 2022 |
| TBXAS1 | 2 | Dec 13, 2022 |
| TCAP | 26 | Dec 13, 2022 |
| TCEA2 | 3 | Dec 13, 2022 |
| TCF12 | 1 | Dec 13, 2022 |
| TCF3 | 8 | Dec 13, 2022 |
| TCF4 | 3 | Dec 13, 2022 |
| TCIRG1 | 38 | Dec 13, 2022 |
| TCN2 | 1 | Dec 13, 2022 |
| TCOF1 | 4 | Dec 13, 2022 |
| TCTN1 | 4 | Dec 13, 2022 |
| TCTN2 | 4 | Dec 13, 2022 |
| TCTN3 | 4 | Dec 13, 2022 |
| TDP1 | 1 | Dec 13, 2022 |
| TECPR2 | 11 | Dec 13, 2022 |
| TECR | 1 | Dec 13, 2022 |
| TECTA | 10 | Dec 13, 2022 |
| TELO2 | 2 | Dec 13, 2022 |
| TERC | 4 | Dec 13, 2022 |
| TERT | 28 | Dec 13, 2022 |
| TET3 | 4 | Dec 13, 2022 |
| TF | 3 | Dec 13, 2022 |
| TFAP2A | 15 | Dec 13, 2022 |
| TFAP2A-AS1 | 1 | Dec 13, 2022 |
| TFAP2A-AS2 | 5 | Dec 13, 2022 |
| TFG | 2 | Dec 13, 2022 |
| TFR2 | 12 | Dec 13, 2022 |
| TG | 20 | Dec 13, 2022 |
| TGDS | 1 | Nov 14, 2018 |
| TGFB1 | 3 | Dec 13, 2022 |
| TGFB2 | 35 | Dec 13, 2022 |
| TGFB2-AS1 | 1 | Dec 13, 2022 |
| TGFB2-OT1 | 1 | Dec 13, 2022 |
| TGFB3 | 29 | Dec 13, 2022 |
| TGFBR1 | 19 | Dec 13, 2022 |
| TGFBR2 | 40 | Dec 13, 2022 |
| TGIF1 | 1 | Dec 13, 2022 |
| TGM1 | 20 | Dec 13, 2022 |
| TGM6 | 1 | Dec 13, 2022 |
| TH | 34 | Dec 13, 2022 |
| TH2-LCR | 3 | Dec 13, 2022 |
| TH2LCRR | 6 | Dec 13, 2022 |
| THAP1 | 2 | Dec 13, 2022 |
| THBD | 24 | Dec 13, 2022 |
| THOC2 | 2 | Dec 13, 2022 |
| THRB | 3 | Dec 13, 2022 |
| TICAM1 | 3 | Dec 13, 2022 |
| TIGD1 | 3 | Dec 13, 2022 |
| TIMM50 | 3 | Dec 13, 2022 |
| TIMP3 | 1 | Dec 13, 2022 |
| TINF2 | 10 | Dec 13, 2022 |
| TIRAP | 1 | Dec 13, 2022 |
| TJP2 | 11 | Dec 13, 2022 |
| TK2 | 4 | Dec 13, 2022 |
| TLR2 | 1 | Dec 13, 2022 |
| TLR3 | 3 | Dec 13, 2022 |
| TMC1 | 3 | Dec 13, 2022 |
| TMC6 | 3 | Dec 13, 2022 |
| TMC8 | 2 | Dec 13, 2022 |
| TMCO1 | 2 | Dec 13, 2022 |
| TMEM127 | 6 | Dec 13, 2022 |
| TMEM132E | 2 | Dec 13, 2022 |
| TMEM199 | 1 | Dec 13, 2022 |
| TMEM216 | 6 | Dec 13, 2022 |
| TMEM218 | 1 | Dec 13, 2022 |
| TMEM231 | 4 | Dec 13, 2022 |
| TMEM237 | 1 | Dec 13, 2022 |
| TMEM38B | 1 | Dec 13, 2022 |
| TMEM43 | 54 | Dec 13, 2022 |
| TMEM67 | 83 | Dec 13, 2022 |
| TMEM70 | 11 | Dec 13, 2022 |
| TMPRSS3 | 13 | Dec 13, 2022 |
| TMPRSS6 | 2 | Dec 13, 2022 |
| TNC | 3 | Dec 13, 2022 |
| TNFAIP3 | 3 | Dec 13, 2022 |
| TNFRSF11A | 2 | Dec 13, 2022 |
| TNFRSF11B | 1 | Dec 13, 2022 |
| TNFRSF13B | 6 | Dec 13, 2022 |
| TNFRSF1A | 1 | Dec 13, 2022 |
| TNFRSF4 | 2 | Dec 13, 2022 |
| TNFSF11 | 1 | Dec 13, 2022 |
| TNIK | 1 | Dec 13, 2022 |
| TNNC1 | 9 | Dec 13, 2022 |
| TNNI2 | 1 | Dec 13, 2022 |
| TNNI3 | 22 | Dec 13, 2022 |
| TNNI3K | 2 | Dec 13, 2022 |
| TNNT1 | 1 | Dec 13, 2022 |
| TNNT2 | 33 | Dec 13, 2022 |
| TNXB | 49 | Dec 13, 2022 |
| TOE1 | 3 | Dec 13, 2022 |
| TOMT | 1 | Dec 13, 2022 |
| TOP2B | 1 | Dec 13, 2022 |
| TOP3A | 3 | Dec 13, 2022 |
| TOPORS | 4 | Dec 13, 2022 |
| TOR1A | 3 | Dec 13, 2022 |
| TOR1AIP1 | 2 | Dec 13, 2022 |
| TP53 | 28 | Dec 13, 2022 |
| TP53BP1 | 1 | Dec 13, 2022 |
| TP53RK | 5 | Dec 13, 2022 |
| TP53RK-DT | 1 | Dec 13, 2022 |
| TP63 | 32 | Dec 13, 2022 |
| TPH2 | 2 | Dec 13, 2022 |
| TPK1 | 4 | Dec 13, 2022 |
| TPM1 | 22 | Dec 13, 2022 |
| TPM2 | 2 | Dec 13, 2022 |
| TPM3 | 1 | Dec 13, 2022 |
| TPO | 10 | Dec 13, 2022 |
| TPP1 | 33 | Dec 13, 2022 |
| TPP2 | 6 | Dec 13, 2022 |
| TPRKB | 1 | Dec 13, 2022 |
| TPRN | 3 | Dec 13, 2022 |
| TRAF3 | 2 | Dec 13, 2022 |
| TRAF3IP1 | 1 | Dec 13, 2022 |
| TRAIP | 2 | Dec 13, 2022 |
| TRAK1 | 2 | Dec 13, 2022 |
| TRAPPC11 | 2 | Dec 13, 2022 |
| TRAPPC12 | 1 | Dec 13, 2022 |
| TRAPPC9 | 14 | Dec 13, 2022 |
| TRB | 5 | Dec 13, 2022 |
| TRDN | 58 | Dec 13, 2022 |
| TRDN-AS1 | 1 | Dec 13, 2022 |
| TREM2 | 7 | Dec 13, 2022 |
| TREX1 | 9 | Dec 13, 2022 |
| TRIM32 | 85 | Dec 13, 2022 |
| TRIM37 | 1 | Dec 13, 2022 |
| TRIM59-IFT80 | 2 | Nov 14, 2018 |
| TRIO | 5 | Dec 13, 2022 |
| TRIOBP | 18 | Dec 13, 2022 |
| TRIP11 | 5 | Dec 13, 2022 |
| TRIP12 | 1 | Dec 13, 2022 |
| TRIP4 | 1 | Dec 13, 2022 |
| TRMT1 | 1 | Dec 13, 2022 |
| TRMT10A | 1 | Nov 14, 2018 |
| TRMT5 | 1 | Dec 13, 2022 |
| TRMU | 13 | Dec 13, 2022 |
| TRNT1 | 9 | Dec 13, 2022 |
| TROAP-AS1 | 1 | Dec 13, 2022 |
| TRPC6 | 27 | Dec 13, 2022 |
| TRPM1 | 5 | Dec 13, 2022 |
| TRPM4 | 83 | Dec 13, 2022 |
| TRPM6 | 43 | Dec 13, 2022 |
| TRPM7 | 1 | Dec 13, 2022 |
| TRPS1 | 2 | Dec 13, 2022 |
| TRPV3 | 2 | Dec 13, 2022 |
| TRPV4 | 11 | Dec 13, 2022 |
| TRPV6 | 1 | Dec 13, 2022 |
| TRRAP | 2 | Dec 13, 2022 |
| TSC1 | 90 | Dec 13, 2022 |
| TSC2 | 295 | Dec 13, 2022 |
| TSEN2 | 5 | Dec 13, 2022 |
| TSEN34 | 2 | Dec 13, 2022 |
| TSEN54 | 10 | Dec 13, 2022 |
| TSFM | 3 | Dec 13, 2022 |
| TSHB | 2 | Dec 13, 2022 |
| TSHR | 5 | Dec 13, 2022 |
| TSPAN1 | 16 | Dec 13, 2022 |
| TSPAN31 | 2 | Dec 13, 2022 |
| TSPAN7 | 1 | Dec 13, 2022 |
| TSPEAR | 4 | Dec 13, 2022 |
| TSPEAR-AS1 | 1 | Dec 13, 2022 |
| TSR2 | 1 | Dec 13, 2022 |
| TTBK2 | 2 | Dec 13, 2022 |
| TTC14 | 7 | Dec 13, 2022 |
| TTC19 | 2 | Dec 13, 2022 |
| TTC21B | 131 | Dec 13, 2022 |
| TTC21B-AS1 | 17 | Dec 13, 2022 |
| TTC7A | 4 | Dec 13, 2022 |
| TTC8 | 33 | Dec 13, 2022 |
| TTN | 1285 | Dec 13, 2022 |
| TTN-AS1 | 717 | Dec 13, 2022 |
| TTPA | 7 | Dec 13, 2022 |
| TTR | 40 | Dec 13, 2022 |
| TUB | 1 | Dec 13, 2022 |
| TUBA1A | 4 | Dec 13, 2022 |
| TUBA8 | 2 | Dec 13, 2022 |
| TUBB1 | 2 | Dec 13, 2022 |
| TUBB2A | 3 | Dec 13, 2022 |
| TUBB2B | 3 | Dec 13, 2022 |
| TUBB3 | 1 | Nov 14, 2018 |
| TUBB4A | 2 | Dec 13, 2022 |
| TUBB6 | 1 | Dec 13, 2022 |
| TUBG1 | 1 | Dec 13, 2022 |
| TUBGCP2 | 1 | Dec 13, 2022 |
| TUBGCP4 | 2 | Dec 13, 2022 |
| TUBGCP6 | 9 | Dec 13, 2022 |
| TUFM | 1 | Dec 13, 2022 |
| TULP1 | 1 | Dec 13, 2022 |
| TUSC3 | 1 | Dec 13, 2022 |
| TWIST1 | 2 | Dec 13, 2022 |
| TWNK | 3 | Dec 13, 2022 |
| TXN2 | 1 | Dec 13, 2022 |
| TXNL4A | 3 | Dec 13, 2022 |
| TXNRD2 | 22 | Dec 13, 2022 |
| TYK2 | 2 | Dec 13, 2022 |
| TYMP | 19 | Dec 13, 2022 |
| TYR | 28 | Dec 13, 2022 |
| TYROBP | 1 | Dec 13, 2022 |
| TYRP1 | 10 | Dec 13, 2022 |
| UBA1 | 3 | Dec 13, 2022 |
| UBA5 | 1 | Dec 13, 2022 |
| UBE3A | 3 | Dec 13, 2022 |
| UBQLN2 | 1 | Dec 13, 2022 |
| UBR1 | 2 | Dec 13, 2022 |
| UCHL1 | 4 | Dec 13, 2022 |
| UCP2 | 5 | Dec 13, 2022 |
| UCP3 | 9 | Dec 13, 2022 |
| UFM1 | 2 | Dec 13, 2022 |
| UFSP2 | 1 | Dec 13, 2022 |
| UGT1A | 10 | Dec 13, 2022 |
| UGT1A1 | 10 | Dec 13, 2022 |
| UGT1A10 | 10 | Dec 13, 2022 |
| UGT1A3 | 10 | Dec 13, 2022 |
| UGT1A4 | 10 | Dec 13, 2022 |
| UGT1A5 | 10 | Dec 13, 2022 |
| UGT1A6 | 10 | Dec 13, 2022 |
| UGT1A7 | 10 | Dec 13, 2022 |
| UGT1A8 | 10 | Dec 13, 2022 |
| UGT1A9 | 10 | Dec 13, 2022 |
| UMOD | 43 | Dec 13, 2022 |
| UNC119 | 1 | Dec 13, 2022 |
| UNC13D | 17 | Dec 13, 2022 |
| UNC80 | 17 | Dec 13, 2022 |
| UNC93B1 | 2 | Dec 13, 2022 |
| UNG | 2 | Dec 13, 2022 |
| UPB1 | 6 | Dec 13, 2022 |
| UPF3B | 2 | Dec 13, 2022 |
| UQCC2 | 4 | Dec 13, 2022 |
| UQCRC2 | 1 | Dec 13, 2022 |
| UQCRQ | 1 | Nov 14, 2018 |
| UROC1 | 4 | Dec 13, 2022 |
| USB1 | 4 | Dec 13, 2022 |
| USH1C | 20 | Dec 13, 2022 |
| USH1G | 6 | Dec 13, 2022 |
| USH2A | 166 | Dec 13, 2022 |
| USH2A-AS1 | 9 | Dec 13, 2022 |
| USH2A-AS2 | 8 | Dec 13, 2022 |
| USP7 | 1 | Dec 13, 2022 |
| USP8 | 1 | Dec 13, 2022 |
| USP9X | 2 | Dec 13, 2022 |
| VARS2 | 1 | Dec 13, 2022 |
| VCAN | 4 | Dec 13, 2022 |
| VCAN-AS1 | 2 | Dec 13, 2022 |
| VCL | 101 | Dec 13, 2022 |
| VCP | 1 | Dec 13, 2022 |
| VDR | 19 | Dec 13, 2022 |
| VHL | 49 | Dec 13, 2022 |
| VIPAS39 | 1 | Nov 14, 2018 |
| VLDLR | 5 | Dec 13, 2022 |
| VPS11 | 1 | Dec 13, 2022 |
| VPS13A | 25 | Dec 13, 2022 |
| VPS13B | 72 | Dec 13, 2022 |
| VPS13C | 1 | Dec 13, 2022 |
| VPS13D | 1 | Dec 13, 2022 |
| VPS33A | 2 | Dec 13, 2022 |
| VPS33B | 2 | Dec 13, 2022 |
| VPS35 | 7 | Dec 13, 2022 |
| VPS45 | 3 | Dec 13, 2022 |
| VPS53 | 4 | Dec 13, 2022 |
| VRK1 | 7 | Dec 13, 2022 |
| VRK2 | 17 | Dec 13, 2022 |
| VSIR | 1 | Dec 13, 2022 |
| VSX1 | 2 | Dec 13, 2022 |
| VSX2 | 1 | Dec 13, 2022 |
| VWA1 | 2 | Dec 13, 2022 |
| VWF | 20 | Dec 13, 2022 |
| WAS | 33 | Dec 13, 2022 |
| WASHC5 | 4 | Dec 13, 2022 |
| WDFY3 | 2 | Dec 13, 2022 |
| WDPCP | 71 | Dec 13, 2022 |
| WDR1 | 2 | Dec 13, 2022 |
| WDR11 | 1 | Dec 13, 2022 |
| WDR19 | 114 | Dec 13, 2022 |
| WDR26 | 1 | Dec 13, 2022 |
| WDR35 | 4 | Dec 13, 2022 |
| WDR36 | 3 | Dec 13, 2022 |
| WDR4 | 1 | Dec 13, 2022 |
| WDR45 | 2 | Dec 13, 2022 |
| WDR45B | 1 | Dec 13, 2022 |
| WDR62 | 10 | Dec 13, 2022 |
| WDR72 | 12 | Dec 13, 2022 |
| WDR73 | 14 | Dec 13, 2022 |
| WDR81 | 5 | Dec 13, 2022 |
| WFS1 | 233 | Dec 13, 2022 |
| WHRN | 12 | Dec 13, 2022 |
| WNK1 | 176 | Dec 13, 2022 |
| WNK4 | 31 | Dec 13, 2022 |
| WNT1 | 1 | Dec 13, 2022 |
| WNT10A | 13 | Dec 13, 2022 |
| WNT4 | 5 | Dec 13, 2022 |
| WNT5A | 16 | Dec 13, 2022 |
| WRAP53 | 5 | Dec 13, 2022 |
| WRN | 35 | Dec 13, 2022 |
| WT1 | 60 | Dec 13, 2022 |
| WWOX | 16 | Dec 13, 2022 |
| XDH | 90 | Dec 13, 2022 |
| XIAP | 1 | Nov 14, 2018 |
| XK | 1 | Dec 13, 2022 |
| XPA | 9 | Dec 13, 2022 |
| XPC | 19 | Dec 13, 2022 |
| XPNPEP3 | 15 | Dec 13, 2022 |
| XPR1 | 2 | Dec 13, 2022 |
| XRCC2 | 3 | Dec 13, 2022 |
| XRCC4 | 16 | Dec 13, 2022 |
| XYLT1 | 2 | Dec 13, 2022 |
| YARS1 | 2 | Dec 13, 2022 |
| YARS2 | 3 | Dec 13, 2022 |
| YEATS2 | 1 | Dec 13, 2022 |
| YWHAG | 1 | Dec 13, 2022 |
| ZAP70 | 4 | Dec 13, 2022 |
| ZBTB20 | 1 | Dec 13, 2022 |
| ZBTB24 | 1 | Dec 13, 2022 |
| ZC3H14 | 1 | Dec 13, 2022 |
| ZC4H2 | 3 | Dec 13, 2022 |
| ZCCHC8 | 1 | Dec 13, 2022 |
| ZDHHC24 | 60 | Dec 13, 2022 |
| ZDHHC9 | 1 | Nov 14, 2018 |
| ZEB1 | 2 | Dec 13, 2022 |
| ZEB2 | 15 | Dec 13, 2022 |
| ZFHX4 | 1 | Dec 13, 2022 |
| ZFP57 | 1 | Dec 13, 2022 |
| ZFPM2 | 2 | Dec 13, 2022 |
| ZFPM2-AS1 | 1 | Dec 13, 2022 |
| ZFYVE26 | 21 | Dec 13, 2022 |
| ZIC2 | 5 | Dec 13, 2022 |
| ZIC3 | 1 | Dec 13, 2022 |
| ZMPSTE24 | 6 | Dec 13, 2022 |
| ZMYM2 | 1 | Dec 13, 2022 |
| ZMYND10 | 4 | Dec 13, 2022 |
| ZMYND11 | 1 | Dec 13, 2022 |
| ZNF142 | 1 | Dec 13, 2022 |
| ZNF276 | 37 | Dec 13, 2022 |
| ZNF292 | 1 | Dec 13, 2022 |
| ZNF335 | 1 | Dec 13, 2022 |
| ZNF341 | 4 | Dec 13, 2022 |
| ZNF341-AS1 | 1 | Dec 13, 2022 |
| ZNF408 | 3 | Dec 13, 2022 |
| ZNF423 | 7 | Dec 13, 2022 |
| ZNF454 | 1 | Dec 13, 2022 |
| ZNF462 | 2 | Dec 13, 2022 |
| ZNF469 | 47 | Dec 13, 2022 |
| ZNF513 | 1 | Nov 14, 2018 |
| ZNHIT3 | 1 | Dec 13, 2022 |
| ZP3 | 1 | Dec 13, 2022 |
| ZRANB3 | 1 | Dec 13, 2022 |
| ZSWIM6 | 5 | Dec 13, 2022 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 11 pairs of ribs | 2 tests |
| 11p partial monosomy syndrome | 28 tests |
| 2-3 toe syndactyly | 6 tests |
| 2-4 toe syndactyly | 3 tests |
| 2-aminoadipic 2-oxoadipic aciduria | 5 tests |
| 2-hydroxyglutaric aciduria | 4 tests |
| 3 beta-Hydroxysteroid dehydrogenase deficiency | 9 tests |
| 3-4 finger cutaneous syndactyly | 3 tests |
| 3-4 finger osseus syndactyly | 2 tests |
| 3-Methylglutaconic aciduria type 2 | 17 tests |
| 3-Methylglutaconic aciduria type 3 | 18 tests |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 6 tests |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 10 tests |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 11 tests |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 11 tests |
| 3-methylglutaconic aciduria type 1 | 18 tests |
| 3-methylglutaconic aciduria type 5 | 8 tests |
| 3-methylglutaconic aciduria, type VIIB | 6 tests |
| 3M syndrome 1 | 5 tests |
| 3M syndrome 2 | 4 tests |
| 3M syndrome 3 | 3 tests |
| 3MC syndrome 1 | 4 tests |
| 3MC syndrome 2 | 4 tests |
| 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | 4 tests |
| 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | 5 tests |
| 46,XY sex reversal 2 | 11 tests |
| 46,XY sex reversal 3 | 6 tests |
| 46,XY sex reversal 5 | 5 tests |
| 46,XY sex reversal 6 | 5 tests |
| 46,XY sex reversal 7 | 5 tests |
| 5-Oxoprolinase deficiency | 2 tests |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 12 tests |
| 8q24.3 microdeletion syndrome | 1 test |
| ABCD syndrome | 7 tests |
| ABri amyloidosis | 6 tests |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 4 tests |
| ADULT syndrome | 6 tests |
| ADan amyloidosis | 6 tests |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 2 tests |
| AICA-ribosiduria | 6 tests |
| ALDH18A1-related de Barsy syndrome | 8 tests |
| ALG1-congenital disorder of glycosylation | 10 tests |
| ALG11-congenital disorder of glycosylation | 6 tests |
| ALG12-congenital disorder of glycosylation | 8 tests |
| ALG2-congenital disorder of glycosylation | 10 tests |
| ALG3-congenital disorder of glycosylation | 9 tests |
| ALG6-congenital disorder of glycosylation 1C | 14 tests |
| ALG8 congenital disorder of glycosylation | 6 tests |
| ALG9 congenital disorder of glycosylation | 7 tests |
| ANE syndrome | 2 tests |
| Aarskog syndrome | 8 tests |
| Abdominal aortic aneurysm | 5 tests |
| Abdominal distention | 2 tests |
| Abdominal obesity | 3 tests |
| Abdominal pain | 11 tests |
| Abdominal situs inversus | 6 tests |
| Abetalipoproteinaemia | 13 tests |
| Abnormal abdomen morphology | 5 tests |
| Abnormal acetabulum morphology | 8 tests |
| Abnormal activity of mitochondrial respiratory chain | 1 test |
| Abnormal antihelix morphology | 3 tests |
| Abnormal antitragus morphology | 3 tests |
| Abnormal aortic morphology | 8 tests |
| Abnormal aortic valve morphology | 3 tests |
| Abnormal aryepiglottic fold morphology | 1 test |
| Abnormal autonomic nervous system physiology | 5 tests |
| Abnormal bleeding | 2 tests |
| Abnormal blistering of the skin | 14 tests |
| Abnormal bone marrow cell morphology | 3 tests |
| Abnormal buccal mucosa morphology | 1 test |
| Abnormal calvaria morphology | 8 tests |
| Abnormal carotid artery morphology | 1 test |
| Abnormal carpal morphology | 3 tests |
| Abnormal chorioretinal morphology | 13 tests |
| Abnormal ciliary motility | 6 tests |
| Abnormal circulating branched chain amino acid concentration | 5 tests |
| Abnormal circulating immunoglobulin concentration | 3 tests |
| Abnormal circulating lipid concentration | 1 test |
| Abnormal clavicle morphology | 14 tests |
| Abnormal columella morphology | 3 tests |
| Abnormal corpus callosum morphology | 5 tests |
| Abnormal cranial suture/fontanelle morphology | 9 tests |
| Abnormal dental enamel morphology | 16 tests |
| Abnormal dental morphology | 12 tests |
| Abnormal dentin morphology | 3 tests |
| Abnormal dermatoglyphics | 17 tests |
| Abnormal electroretinogram | 25 tests |
| Abnormal endocardium morphology | 2 tests |
| Abnormal epiphysis morphology | 7 tests |
| Abnormal erythrocyte morphology | 2 tests |
| Abnormal eyebrow morphology | 13 tests |
| Abnormal eyelash morphology | 11 tests |
| Abnormal eyelid morphology | 7 tests |
| Abnormal facial shape | 38 tests |
| Abnormal female external genitalia morphology | 18 tests |
| Abnormal femur morphology | 3 tests |
| Abnormal fibula morphology | 2 tests |
| Abnormal finger morphology | 9 tests |
| Abnormal fingernail morphology | 25 tests |
| Abnormal foot morphology | 19 tests |
| Abnormal form of the vertebral bodies | 12 tests |
| Abnormal gastric mucosa morphology | 5 tests |
| Abnormal glycosylation | 1 test |
| Abnormal granulocytopoietic cell morphology | 3 tests |
| Abnormal hair quantity | 46 tests |
| Abnormal hair whorl | 6 tests |
| Abnormal helix morphology | 30 tests |
| Abnormal hip bone morphology | 15 tests |
| Abnormal intervertebral disk morphology | 9 tests |
| Abnormal intestine morphology | 1 test |
| Abnormal left ventricle morphology | 6 tests |
| Abnormal leukocyte morphology | 14 tests |
| Abnormal localization of kidney | 18 tests |
| Abnormal lower motor neuron morphology | 6 tests |
| Abnormal lung lobation | 5 tests |
| Abnormal macular morphology | 14 tests |
| Abnormal megakaryocyte morphology | 4 tests |
| Abnormal metacarpal morphology | 29 tests |
| Abnormal metaphysis morphology | 17 tests |
| Abnormal mitral valve morphology | 10 tests |
| Abnormal morphology of female internal genitalia | 26 tests |
| Abnormal morphology of the abdominal musculature | 2 tests |
| Abnormal morphology of ulna | 3 tests |
| Abnormal nail morphology | 25 tests |
| Abnormal nasal morphology | 11 tests |
| Abnormal nipple morphology | 17 tests |
| Abnormal nostril morphology | 3 tests |
| Abnormal oral cavity morphology | 16 tests |
| Abnormal palate morphology | 42 tests |
| Abnormal pattern of respiration | 12 tests |
| Abnormal pelvic girdle bone morphology | 14 tests |
| Abnormal penis morphology | 1 test |
| Abnormal pericardium morphology | 4 tests |
| Abnormal peritoneum morphology | 2 tests |
| Abnormal periventricular white matter morphology | 10 tests |
| Abnormal pinna morphology | 19 tests |
| Abnormal pleura morphology | 4 tests |
| Abnormal posturing | 3 tests |
| Abnormal preputium morphology | 1 test |
| Abnormal pulmonary interstitial morphology | 5 tests |
| Abnormal pulmonary valve morphology | 22 tests |
| Abnormal pupil morphology | 2 tests |
| Abnormal pyramidal sign | 14 tests |
| Abnormal renal physiology | 1 test |
| Abnormal renal tubule morphology | 6 tests |
| Abnormal retinal vascular morphology | 20 tests |
| Abnormal rib morphology | 15 tests |
| Abnormal saccadic eye movements | 8 tests |
| Abnormal sacrum morphology | 4 tests |
| Abnormal salivary gland morphology | 5 tests |
| Abnormal skull morphology | 2 tests |
| Abnormal speech pattern | 60 tests |
| Abnormal sternum morphology | 16 tests |
| Abnormal testis morphology | 38 tests |
| Abnormal thorax morphology | 10 tests |
| Abnormal thymus morphology | 3 tests |
| Abnormal tibia morphology | 3 tests |
| Abnormal toe morphology | 8 tests |
| Abnormal toenail morphology | 3 tests |
| Abnormal tragus morphology | 3 tests |
| Abnormal tricuspid valve morphology | 8 tests |
| Abnormal vagina morphology | 2 tests |
| Abnormal vitreous humor morphology | 13 tests |
| Abnormality of blood and blood-forming tissues | 2 tests |
| Abnormality of bone mineral density | 12 tests |
| Abnormality of chromosome stability | 2 tests |
| Abnormality of coagulation | 40 tests |
| Abnormality of connective tissue | 2 tests |
| Abnormality of dental color | 10 tests |
| Abnormality of extrapyramidal motor function | 18 tests |
| Abnormality of eye movement | 9 tests |
| Abnormality of immune system physiology | 24 tests |
| Abnormality of macular pigmentation | 2 tests |
| Abnormality of metabolism/homeostasis | 35 tests |
| Abnormality of mitochondrial metabolism | 4 tests |
| Abnormality of neutrophils | 22 tests |
| Abnormality of reproductive system physiology | 1 test |
| Abnormality of retinal pigmentation | 54 tests |
| Abnormality of skin pigmentation | 7 tests |
| Abnormality of temperature regulation | 6 tests |
| Abnormality of the ankle | 2 tests |
| Abnormality of the autonomic nervous system | 13 tests |
| Abnormality of the bronchi | 9 tests |
| Abnormality of the cardiovascular system | 1 test |
| Abnormality of the coagulation cascade | 2 tests |
| Abnormality of the dentition | 29 tests |
| Abnormality of the diaphragm | 1 test |
| Abnormality of the endocrine system | 3 tests |
| Abnormality of the eye | 11 tests |
| Abnormality of the gastrointestinal tract | 6 tests |
| Abnormality of the genital system | 14 tests |
| Abnormality of the gingiva | 1 test |
| Abnormality of the hand | 5 tests |
| Abnormality of the hypothalamus-pituitary axis | 16 tests |
| Abnormality of the immune system | 3 tests |
| Abnormality of the kidney | 4 tests |
| Abnormality of the larynx | 4 tests |
| Abnormality of the liver | 15 tests |
| Abnormality of the lymphatic system | 6 tests |
| Abnormality of the medullary cavity of the long bones | 3 tests |
| Abnormality of the menstrual cycle | 12 tests |
| Abnormality of the musculature | 5 tests |
| Abnormality of the nose | 7 tests |
| Abnormality of the outer ear | 9 tests |
| Abnormality of the pharynx | 15 tests |
| Abnormality of the philtrum | 2 tests |
| Abnormality of the pulmonary artery | 17 tests |
| Abnormality of the respiratory system | 3 tests |
| Abnormality of the sense of smell | 8 tests |
| Abnormality of the skeletal system | 11 tests |
| Abnormality of the skin | 17 tests |
| Abnormality of the spleen | 22 tests |
| Abnormality of the thyroid gland | 5 tests |
| Abnormality of the tongue | 6 tests |
| Abnormality of the upper urinary tract | 10 tests |
| Abnormality of the ureter | 4 tests |
| Abnormality of the urethra | 1 test |
| Abnormality of the urinary system | 6 tests |
| Abnormality of the voice | 26 tests |
| Abnormality of the wrist | 3 tests |
| Abnormality of thrombocytes | 19 tests |
| Abnormality of thumb phalanx | 1 test |
| Abnormality of visual evoked potentials | 9 tests |
| Abnormally high-pitched voice | 6 tests |
| Abnormally large globe | 5 tests |
| Abnormally ossified vertebrae | 1 test |
| Abruzzo-Erickson syndrome | 3 tests |
| Absence of subcutaneous fat | 2 tests |
| Absence seizure | 4 tests |
| Absent Achilles reflex | 1 test |
| Absent axillary hair | 1 test |
| Absent earlobe | 9 tests |
| Absent facial hair | 1 test |
| Absent hand | 7 tests |
| Absent nail of hallux | 1 test |
| Absent outer dynein arms | 7 tests |
| Absent radius | 9 tests |
| Absent septum pellucidum | 1 test |
| Absent speech | 28 tests |
| Absent thumb | 4 tests |
| Acanthocytosis | 4 tests |
| Acanthosis nigricans | 2 tests |
| Acatalasia | 3 tests |
| Accelerated skeletal maturation | 1 test |
| Accelerated tumor formation, susceptibility to | 2 tests |
| Accessory oral frenulum | 7 tests |
| Accessory spleen | 9 tests |
| Acetabular spurs | 1 test |
| Acetyl-CoA acetyltransferase-2 deficiency | 7 tests |
| Acetyl-CoA: carboxylase deficiency | 4 tests |
| Achalasia | 4 tests |
| Acheiropodia | 3 tests |
| Achilles tendon contracture | 4 tests |
| Achondrogenesis type II | 20 tests |
| Achondrogenesis, type IA | 3 tests |
| Achondrogenesis, type IB | 10 tests |
| Achondroplasia | 17 tests |
| Achromatopsia | 4 tests |
| Achromatopsia 2 | 5 tests |
| Achromatopsia 3 | 11 tests |
| Achromatopsia 4 | 5 tests |
| Acidosis | 3 tests |
| Acne | 5 tests |
| Acne inversa, familial, 2 | 3 tests |
| Acne inversa, familial, 3 | 6 tests |
| Acquired hemoglobin H disease | 12 tests |
| Acquired partial lipodystrophy | 2 tests |
| Acquired polycythemia vera | 5 tests |
| Acral peeling skin syndrome | 4 tests |
| Acrocallosal syndrome | 13 tests |
| Acrocapitofemoral dysplasia | 5 tests |
| Acrocephalosyndactyly type I | 10 tests |
| Acrocyanosis | 9 tests |
| Acrodysostosis | 12 tests |
| Acrodysostosis 2 with or without hormone resistance | 4 tests |
| Acroerythrokeratoderma | 3 tests |
| Acrofacial dysostosis Cincinnati type | 1 test |
| Acrokeratosis verruciformis of Hopf | 6 tests |
| Acromesomelic dysplasia 1, Maroteaux type | 4 tests |
| Acromesomelic dysplasia 2B | 4 tests |
| Acromesomelic dysplasia 2C, Hunter-Thompson type | 4 tests |
| Acromesomelic dysplasia 3 | 4 tests |
| Acromicric dysplasia | 17 tests |
| Acroosteolysis | 3 tests |
| Actin accumulation myopathy | 8 tests |
| Action myoclonus-renal failure syndrome | 8 tests |
| Action tremor | 1 test |
| Actn3 deficiency | 1 test |
| Aculeiform cataract | 3 tests |
| Acute biphenotypic leukemia | 2 tests |
| Acute febrile mucocutaneous lymph node syndrome | 3 tests |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 11 tests |
| Acute intermittent porphyria | 4 tests |
| Acute kidney injury | 6 tests |
| Acute leukemia | 8 tests |
| Acute lymphoid leukemia | 36 tests |
| Acute monocytic leukemia | 2 tests |
| Acute myeloid leukemia | 18 tests |
| Acute myelomonocytic leukemia M4 | 2 tests |
| Acute promyelocytic leukemia | 3 tests |
| Acyl-CoA dehydrogenase 9 deficiency | 14 tests |
| Acyl-CoA oxidase deficiency | 12 tests |
| Adactyly | 5 tests |
| Adams-Oliver syndrome | 3 tests |
| Adams-Oliver syndrome 1 | 4 tests |
| Adams-Oliver syndrome 2 | 3 tests |
| Adenine phosphoribosyltransferase deficiency | 3 tests |
| Adenoma sebaceum | 9 tests |
| Adenomatous colonic polyposis | 8 tests |
| Adenosine kinase deficiency | 4 tests |
| Adenylosuccinate lyase deficiency | 11 tests |
| Adermatoglyphia | 3 tests |
| Adiponectin deficiency | 2 tests |
| Adolescent alopeciam dentogingival abnormalitites and intellectual disability | 3 tests |
| Adrenal insufficiency | 5 tests |
| Adrenal medullary hypoplasia | 1 test |
| Adrenocortical carcinoma, hereditary | 27 tests |
| Adrenoleukodystrophy | 15 tests |
| Adult Fanconi syndrome | 6 tests |
| Adult hypophosphatasia | 12 tests |
| Adult neuronal ceroid lipofuscinosis | 17 tests |
| Adult polyglucosan body disease | 12 tests |
| Adult-onset autosomal dominant demyelinating leukodystrophy | 3 tests |
| Adult-onset foveomacular vitelliform dystrophy | 12 tests |
| Adult-onset proximal spinal muscular atrophy, autosomal dominant | 4 tests |
| Advanced sleep phase syndrome 1 | 2 tests |
| Advanced sleep phase syndrome 2 | 2 tests |
| Afibrinogenemia | 11 tests |
| Agammaglobulinemia | 4 tests |
| Agammaglobulinemia 2, autosomal recessive | 5 tests |
| Agammaglobulinemia 3, autosomal recessive | 5 tests |
| Agammaglobulinemia 4, autosomal recessive | 5 tests |
| Agammaglobulinemia 5, autosomal dominant | 5 tests |
| Agammaglobulinemia 6, autosomal recessive | 5 tests |
| Agammaglobulinemia 7, autosomal recessive | 5 tests |
| Aganglionic megacolon | 2 tests |
| Age related macular degeneration 1 | 10 tests |
| Age related macular degeneration 10 | 3 tests |
| Age related macular degeneration 11 | 3 tests |
| Age related macular degeneration 12 | 3 tests |
| Age related macular degeneration 13 | 7 tests |
| Age related macular degeneration 14 | 6 tests |
| Age related macular degeneration 15 | 5 tests |
| Age related macular degeneration 2 | 8 tests |
| Age related macular degeneration 4 | 9 tests |
| Age related macular degeneration 5 | 15 tests |
| Age related macular degeneration 6 | 6 tests |
| Age related macular degeneration 7 | 6 tests |
| Age related macular degeneration 8 | 4 tests |
| Age related macular degeneration 9 | 6 tests |
| Agenesis of mandibular central incisor | 1 test |
| Agenesis of permanent teeth | 3 tests |
| Agenesis of the corpus callosum with peripheral neuropathy | 9 tests |
| Aggressive behavior | 32 tests |
| Agitation | 2 tests |
| Agnathia-otocephaly complex | 2 tests |
| Aicardi Goutieres syndrome | 4 tests |
| Aicardi-Goutieres syndrome 1 | 9 tests |
| Aicardi-Goutieres syndrome 2 | 9 tests |
| Aicardi-Goutieres syndrome 3 | 9 tests |
| Aicardi-Goutieres syndrome 4 | 9 tests |
| Aicardi-Goutieres syndrome 5 | 14 tests |
| Aicardi-Goutieres syndrome 6 | 8 tests |
| Aicardi-Goutieres syndrome 7 | 4 tests |
| Alacrima | 4 tests |
| Alacrima, achalasia, and intellectual disability syndrome | 4 tests |
| Alagille syndrome due to a JAG1 point mutation | 9 tests |
| Alagille syndrome due to a NOTCH2 point mutation | 10 tests |
| Aland island eye disease | 7 tests |
| Albinism | 3 tests |
| Alcohol dependence | 7 tests |
| Alcohol sensitivity, acute | 3 tests |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 4 tests |
| Aldosterone-producing adrenal cortex adenoma | 3 tests |
| Alexander disease | 13 tests |
| Alkaptonuria | 7 tests |
| Allan-Herndon-Dudley syndrome | 12 tests |
| Allergic rhinitis | 7 tests |
| Alopecia | 33 tests |
| Alopecia universalis congenita | 3 tests |
| Alpers encephalopathy | 4 tests |
| Alpha thalassemia-X-linked intellectual disability syndrome | 12 tests |
| Alpha-1-antitrypsin deficiency | 8 tests |
| Alpha-2-macroglobulin deficiency | 3 tests |
| Alpha-2-plasmin inhibitor deficiency | 4 tests |
| Alpha-N-acetylgalactosaminidase deficiency type 1 | 5 tests |
| Alpha-N-acetylgalactosaminidase deficiency type 2 | 5 tests |
| Alpha-fetoprotein deficiency | 2 tests |
| Alpha-methylacyl-CoA racemase deficiency | 10 tests |
| Alstrom syndrome | 17 tests |
| Alternating hemiplegia of childhood | 9 tests |
| Alternating hemiplegia of childhood 2 | 7 tests |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 4 tests |
| Alveolar rhabdomyosarcoma | 8 tests |
| Alveolar soft part sarcoma | 1 test |
| Alzheimer disease | 24 tests |
| Alzheimer disease 18 | 2 tests |
| Alzheimer disease 2 | 6 tests |
| Alzheimer disease 3 | 6 tests |
| Alzheimer disease 4 | 10 tests |
| Amaurosis fugax | 9 tests |
| Ambiguous genitalia | 22 tests |
| Amblyopia | 6 tests |
| Amelocerebrohypohidrotic syndrome | 7 tests |
| Amelogenesis imperfecta | 6 tests |
| Amelogenesis imperfecta - hypoplastic autosomal dominant - local | 3 tests |
| Amelogenesis imperfecta hypomaturation type 2A2 | 3 tests |
| Amelogenesis imperfecta hypomaturation type 2A3 | 3 tests |
| Amelogenesis imperfecta hypomaturation type 2A5 | 2 tests |
| Amelogenesis imperfecta type 1C | 3 tests |
| Amelogenesis imperfecta type 1E | 3 tests |
| Amelogenesis imperfecta type 1G | 3 tests |
| Amelogenesis imperfecta type 2A1 | 3 tests |
| Amelogenesis imperfecta, hypocalcification type | 3 tests |
| Aminoaciduria | 18 tests |
| Aminoacylase 1 deficiency | 8 tests |
| Aminoglycoside-induced deafness | 11 tests |
| Amish lethal microcephaly | 7 tests |
| Amyloidosis, hereditary systemic 1 | 12 tests |
| Amyloidosis, primary localized cutaneous, 2 | 2 tests |
| Amyotrophic lateral sclerosis | 10 tests |
| Amyotrophic lateral sclerosis type 1 | 10 tests |
| Amyotrophic lateral sclerosis type 10 | 3 tests |
| Amyotrophic lateral sclerosis type 11 | 6 tests |
| Amyotrophic lateral sclerosis type 12 | 6 tests |
| Amyotrophic lateral sclerosis type 15 | 3 tests |
| Amyotrophic lateral sclerosis type 16 | 3 tests |
| Amyotrophic lateral sclerosis type 18 | 2 tests |
| Amyotrophic lateral sclerosis type 19 | 3 tests |
| Amyotrophic lateral sclerosis type 2, juvenile | 7 tests |
| Amyotrophic lateral sclerosis type 21 | 4 tests |
| Amyotrophic lateral sclerosis type 4 | 9 tests |
| Amyotrophic lateral sclerosis type 6 | 3 tests |
| Amyotrophic lateral sclerosis type 8 | 4 tests |
| Amyotrophic lateral sclerosis type 9 | 3 tests |
| Amyotrophic lateral sclerosis-parkinsonism-dementia complex | 5 tests |
| Analbuminemia | 2 tests |
| Anaphylotoxin inactivator deficiency | 2 tests |
| Anauxetic dysplasia 1 | 16 tests |
| Andersen Tawil syndrome | 14 tests |
| Androgen insufficiency | 5 tests |
| Androgen resistance syndrome | 6 tests |
| Anemia | 40 tests |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 20 tests |
| Anencephaly | 1 test |
| Aneurysm-osteoarthritis syndrome | 7 tests |
| Angelman syndrome | 19 tests |
| Angioid streaks | 6 tests |
| Angiomatoid fibrous histiocytoma | 2 tests |
| Aniridia 1 | 28 tests |
| Anisocoria | 4 tests |
| Anisocytosis | 4 tests |
| Anisopoikilocytosis | 4 tests |
| Ankle clonus | 4 tests |
| Ankle flexion contracture | 9 tests |
| Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | 6 tests |
| Ankyloglossia | 5 tests |
| Annular epidermolytic ichthyosis | 5 tests |
| Annular pancreas | 4 tests |
| Anodontia | 4 tests |
| Anonychia | 23 tests |
| Anophthalmia | 4 tests |
| Anophthalmia-microphthalmia syndrome | 4 tests |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 12 tests |
| Anorexia nervosa, susceptibility to, 1 | 4 tests |
| Anosmia | 2 tests |
| Anterior creases of earlobe | 6 tests |
| Anterior hypopituitarism | 12 tests |
| Anterior open-bite malocclusion | 5 tests |
| Anterior rib cupping | 1 test |
| Anterior segment dysgenesis 1 | 9 tests |
| Anterior segment dysgenesis 3 | 9 tests |
| Anterior segment dysgenesis 4 | 9 tests |
| Anterior segment dysgenesis 7 | 5 tests |
| Anteriorly placed anus | 1 test |
| Anteverted nares | 55 tests |
| Antigen in Cartwright blood group system | 1 test |
| Antley-Bixler syndrome | 13 tests |
| Anxiety | 11 tests |
| Aortic aneurysm | 7 tests |
| Aortic aneurysm, familial thoracic 4 | 6 tests |
| Aortic aneurysm, familial thoracic 6 | 7 tests |
| Aortic aneurysm, familial thoracic 7 | 5 tests |
| Aortic arch aneurysm | 1 test |
| Aortic root aneurysm | 1 test |
| Aortic valve disease 1 | 8 tests |
| Aortic valve disease 2 | 5 tests |
| Apathy | 6 tests |
| Aplasia cutis congenita | 7 tests |
| Aplasia cutis congenita over the scalp vertex | 1 test |
| Aplasia of the epiglottis | 1 test |
| Aplasia of the middle phalanx of the hand | 4 tests |
| Aplasia of the ulna | 9 tests |
| Aplasia/Hypoplasia affecting the eye | 42 tests |
| Aplasia/Hypoplasia involving the central nervous system | 6 tests |
| Aplasia/Hypoplasia involving the nose | 3 tests |
| Aplasia/Hypoplasia of the abdominal wall musculature | 19 tests |
| Aplasia/Hypoplasia of the cerebellum | 54 tests |
| Aplasia/Hypoplasia of the corpus callosum | 38 tests |
| Aplasia/Hypoplasia of the distal phalanges of the toes | 4 tests |
| Aplasia/Hypoplasia of the earlobes | 19 tests |
| Aplasia/Hypoplasia of the eyebrow | 10 tests |
| Aplasia/Hypoplasia of the hallux | 2 tests |
| Aplasia/Hypoplasia of the iris | 5 tests |
| Aplasia/Hypoplasia of the lungs | 17 tests |
| Aplasia/Hypoplasia of the middle phalanx of the 2nd finger | 2 tests |
| Aplasia/Hypoplasia of the middle phalanx of the 5th finger | 2 tests |
| Aplasia/Hypoplasia of the nipples | 3 tests |
| Aplasia/Hypoplasia of the pancreas | 4 tests |
| Aplasia/Hypoplasia of the radius | 10 tests |
| Aplasia/Hypoplasia of the skin | 23 tests |
| Aplasia/Hypoplasia of the thumb | 11 tests |
| Aplasia/Hypoplasia of the thymus | 5 tests |
| Aplasia/Hypoplasia of the uvula | 1 test |
| Aplastic anemia | 33 tests |
| Aplastic/hypoplastic toenail | 18 tests |
| Apnea | 31 tests |
| Apnea, central sleep | 13 tests |
| Apocrine gland secretion, variation in | 2 tests |
| Apolipoprotein c-III deficiency | 4 tests |
| Apparent mineralocorticoid excess | 4 tests |
| Apraxia | 4 tests |
| Arachnodactyly | 10 tests |
| Arachnoid cyst | 8 tests |
| Areflexia | 39 tests |
| Arginase deficiency | 16 tests |
| Arginine:glycine amidinotransferase deficiency | 8 tests |
| Argininosuccinate lyase deficiency | 10 tests |
| Aromatase deficiency | 10 tests |
| Aromatase excess syndrome | 10 tests |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 12 tests |
| Arrhythmogenic right ventricular cardiomyopathy | 8 tests |
| Arrhythmogenic right ventricular dysplasia 1 | 11 tests |
| Arrhythmogenic right ventricular dysplasia 10 | 10 tests |
| Arrhythmogenic right ventricular dysplasia 11 | 10 tests |
| Arrhythmogenic right ventricular dysplasia 12 | 9 tests |
| Arrhythmogenic right ventricular dysplasia 13 | 6 tests |
| Arrhythmogenic right ventricular dysplasia 2 | 15 tests |
| Arrhythmogenic right ventricular dysplasia 5 | 12 tests |
| Arrhythmogenic right ventricular dysplasia 8 | 12 tests |
| Arrhythmogenic right ventricular dysplasia 9 | 11 tests |
| Arterial calcification, generalized, of infancy, 1 | 9 tests |
| Arterial calcification, generalized, of infancy, 2 | 9 tests |
| Arterial thrombosis | 3 tests |
| Arterial tortuosity syndrome | 7 tests |
| Arteriovenous malformation | 5 tests |
| Arthralgia | 18 tests |
| Arthritis | 14 tests |
| Arthrogryposis multiplex congenita | 25 tests |
| Arthrogryposis, distal, type 1A | 8 tests |
| Arthrogryposis, distal, type 1B | 4 tests |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | 5 tests |
| Arthrogryposis, renal dysfunction, and cholestasis 2 | 3 tests |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 4 tests |
| Arthropathy | 3 tests |
| Arts syndrome | 16 tests |
| Ascites | 13 tests |
| Aspartate aminotransferase, serum level of, quantitative trait locus 1 | 2 tests |
| Aspartylglucosaminuria | 11 tests |
| Asperger syndrome, X-linked, susceptibility to, 1 | 5 tests |
| Asperger syndrome, X-linked, susceptibility to, 2 | 5 tests |
| Aspergillosis, susceptibility to | 3 tests |
| Asphyxiating thoracic dystrophy 1 | 8 tests |
| Asphyxiating thoracic dystrophy 2 | 7 tests |
| Asphyxiating thoracic dystrophy 3 | 6 tests |
| Asphyxiating thoracic dystrophy 4 | 12 tests |
| Asphyxiating thoracic dystrophy 5 | 8 tests |
| Aspiration pneumonia | 2 tests |
| Asplenia | 5 tests |
| Asthma | 18 tests |
| Asthma, nasal polyps, and aspirin intolerance | 3 tests |
| Asthma-related traits, susceptibility to, 1 | 2 tests |
| Asthma-related traits, susceptibility to, 2 | 2 tests |
| Asthma-related traits, susceptibility to, 5 | 2 tests |
| Asthma-related traits, susceptibility to, 7 | 2 tests |
| Astigmatism | 9 tests |
| Asymmetric growth | 9 tests |
| Asymmetry of the thorax | 8 tests |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 6 tests |
| Ataxia with oculomotor apraxia type 3 | 2 tests |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 12 tests |
| Ataxia-hypogonadism-choroidal dystrophy syndrome | 7 tests |
| Ataxia-telangiectasia syndrome | 25 tests |
| Atelectasis | 9 tests |
| Ateleiotic dwarfism | 6 tests |
| Atelosteogenesis type I | 10 tests |
| Atelosteogenesis type II | 10 tests |
| Atelosteogenesis type III | 10 tests |
| Athetosis | 12 tests |
| Atonic seizure | 6 tests |
| Atransferrinemia | 2 tests |
| Atresia of the external auditory canal | 7 tests |
| Atrial arrhythmia | 2 tests |
| Atrial conduction disease | 3 tests |
| Atrial fibrillation | 7 tests |
| Atrial fibrillation, familial, 10 | 18 tests |
| Atrial fibrillation, familial, 11 | 7 tests |
| Atrial fibrillation, familial, 12 | 11 tests |
| Atrial fibrillation, familial, 13 | 14 tests |
| Atrial fibrillation, familial, 14 | 6 tests |
| Atrial fibrillation, familial, 15 | 3 tests |
| Atrial fibrillation, familial, 3 | 16 tests |
| Atrial fibrillation, familial, 4 | 10 tests |
| Atrial fibrillation, familial, 6 | 8 tests |
| Atrial fibrillation, familial, 7 | 7 tests |
| Atrial fibrillation, familial, 9 | 14 tests |
| Atrial flutter | 2 tests |
| Atrial septal defect | 42 tests |
| Atrial septal defect 2 | 9 tests |
| Atrial septal defect 3 | 8 tests |
| Atrial septal defect 4 | 6 tests |
| Atrial septal defect 5 | 10 tests |
| Atrial septal defect 6 | 4 tests |
| Atrial septal defect 7 | 13 tests |
| Atrial septal defect 8 | 3 tests |
| Atrial septal defect 9 | 9 tests |
| Atrial standstill 1 | 7 tests |
| Atrial standstill 2 | 8 tests |
| Atrichia with papular lesions | 3 tests |
| Atrioventricular septal defect 4 | 9 tests |
| Atrioventricular septal defect 5 | 9 tests |
| Atrioventricular septal defect and common atrioventricular junction | 10 tests |
| Atrioventricular septal defect, susceptibility to, 2 | 4 tests |
| Atrophia bulborum hereditaria | 11 tests |
| Atrophoderma vermiculatum | 2 tests |
| Attention deficit hyperactivity disorder | 13 tests |
| Attention deficit-hyperactivity disorder, susceptibility to, 7 | 6 tests |
| Attenuated familial adenomatous polyposis | 12 tests |
| Attenuation of retinal blood vessels | 6 tests |
| Atypical behavior | 17 tests |
| Atypical hemolytic-uremic syndrome | 7 tests |
| Atypical hemolytic-uremic syndrome with B factor anomaly | 5 tests |
| Atypical hemolytic-uremic syndrome with C3 anomaly | 6 tests |
| Atypical hemolytic-uremic syndrome with I factor anomaly | 7 tests |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 4 tests |
| Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | 7 tests |
| Atypical scarring of skin | 14 tests |
| Auditory hallucination | 9 tests |
| Aural atresia, congenital | 2 tests |
| Auriculocondylar syndrome | 2 tests |
| Auriculocondylar syndrome 2 | 2 tests |
| Auriculocondylar syndrome 3 | 2 tests |
| Autism | 8 tests |
| Autism spectrum disorder | 25 tests |
| Autism spectrum disorder due to AUTS2 deficiency | 4 tests |
| Autism, susceptibility to, 15 | 8 tests |
| Autism, susceptibility to, 16 | 4 tests |
| Autism, susceptibility to, 17 | 4 tests |
| Autism, susceptibility to, X-linked 1 | 5 tests |
| Autism, susceptibility to, X-linked 2 | 5 tests |
| Autism, susceptibility to, X-linked 3 | 14 tests |
| Autism, susceptibility to, X-linked 5 | 5 tests |
| Autistic behavior | 13 tests |
| Autistic spectrum disorder with isolated skills | 1 test |
| Autoimmune disease, susceptibility to, 1 | 2 tests |
| Autoimmune disease, susceptibility to, 6 | 2 tests |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 4 tests |
| Autoimmune hemolytic anemia | 8 tests |
| Autoimmune lymphoproliferative syndrome type 1 | 4 tests |
| Autoimmune lymphoproliferative syndrome type 2A | 3 tests |
| Autoimmune lymphoproliferative syndrome type 2B | 4 tests |
| Autoimmune lymphoproliferative syndrome type 4 | 8 tests |
| Autoimmune thrombocytopenia | 10 tests |
| Autoimmune thyroid disease, susceptibility to, 3 | 4 tests |
| Autoimmunity | 13 tests |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 5 tests |
| Autophagic vacuoles | 3 tests |
| Autosomal dominant Alport syndrome | 13 tests |
| Autosomal dominant Parkinson disease 1 | 5 tests |
| Autosomal dominant Parkinson disease 4 | 5 tests |
| Autosomal dominant Parkinson disease 8 | 4 tests |
| Autosomal dominant Robinow syndrome 1 | 7 tests |
| Autosomal dominant aplasia and myelodysplasia | 4 tests |
| Autosomal dominant auditory neuropathy 1 | 4 tests |
| Autosomal dominant centronuclear myopathy | 10 tests |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 9 tests |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 12 tests |
| Autosomal dominant distal renal tubular acidosis | 8 tests |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 16 tests |
| Autosomal dominant hypocalcemia 1 | 14 tests |
| Autosomal dominant hypophosphatemic rickets | 6 tests |
| Autosomal dominant inheritance | 209 tests |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 4 tests |
| Autosomal dominant isolated somatotropin deficiency | 1 test |
| Autosomal dominant keratitis | 18 tests |
| Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 13 tests |
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 7 tests |
| Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | 4 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy | 5 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 8 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 7 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 6 tests |
| Autosomal dominant nonsyndromic hearing loss 1 | 5 tests |
| Autosomal dominant nonsyndromic hearing loss 10 | 8 tests |
| Autosomal dominant nonsyndromic hearing loss 11 | 13 tests |
| Autosomal dominant nonsyndromic hearing loss 12 | 4 tests |
| Autosomal dominant nonsyndromic hearing loss 13 | 13 tests |
| Autosomal dominant nonsyndromic hearing loss 15 | 4 tests |
| Autosomal dominant nonsyndromic hearing loss 17 | 12 tests |
| Autosomal dominant nonsyndromic hearing loss 20 | 11 tests |
| Autosomal dominant nonsyndromic hearing loss 22 | 4 tests |
| Autosomal dominant nonsyndromic hearing loss 23 | 8 tests |
| Autosomal dominant nonsyndromic hearing loss 25 | 4 tests |
| Autosomal dominant nonsyndromic hearing loss 28 | 4 tests |
| Autosomal dominant nonsyndromic hearing loss 2A | 4 tests |
| Autosomal dominant nonsyndromic hearing loss 2B | 5 tests |
| Autosomal dominant nonsyndromic hearing loss 36 | 4 tests |
| Autosomal dominant nonsyndromic hearing loss 3A | 13 tests |
| Autosomal dominant nonsyndromic hearing loss 3B | 12 tests |
| Autosomal dominant nonsyndromic hearing loss 44 | 4 tests |
| Autosomal dominant nonsyndromic hearing loss 48 | 2 tests |
| Autosomal dominant nonsyndromic hearing loss 4A | 4 tests |
| Autosomal dominant nonsyndromic hearing loss 4B | 4 tests |
| Autosomal dominant nonsyndromic hearing loss 50 | 4 tests |
| Autosomal dominant nonsyndromic hearing loss 56 | 4 tests |
| Autosomal dominant nonsyndromic hearing loss 6 | 16 tests |
| Autosomal dominant nonsyndromic hearing loss 64 | 5 tests |
| Autosomal dominant nonsyndromic hearing loss 9 | 4 tests |
| Autosomal dominant optic atrophy classic form | 14 tests |
| Autosomal dominant osteopetrosis 1 | 10 tests |
| Autosomal dominant osteopetrosis 2 | 5 tests |
| Autosomal dominant pseudohypoaldosteronism type 1 | 4 tests |
| Autosomal dominant sensory ataxia 1 | 2 tests |
| Autosomal dominant slowed nerve conduction velocity | 2 tests |
| Autosomal dominant striatal neurodegeneration type 1 | 2 tests |
| Autosomal dominant vitreoretinochoroidopathy | 9 tests |
| Autosomal dominant wooly hair | 3 tests |
| Autosomal recessive Alport syndrome | 14 tests |
| Autosomal recessive DOPA responsive dystonia | 13 tests |
| Autosomal recessive Kenny-Caffey syndrome | 4 tests |
| Autosomal recessive Parkinson disease 14 | 13 tests |
| Autosomal recessive Robinow syndrome | 5 tests |
| Autosomal recessive ataxia, Beauce type | 9 tests |
| Autosomal recessive axonal neuropathy with neuromyotonia | 6 tests |
| Autosomal recessive bestrophinopathy | 9 tests |
| Autosomal recessive congenital ichthyosis 10 | 3 tests |
| Autosomal recessive congenital ichthyosis 11 | 3 tests |
| Autosomal recessive congenital ichthyosis 2 | 5 tests |
| Autosomal recessive congenital ichthyosis 3 | 3 tests |
| Autosomal recessive congenital ichthyosis 4A | 3 tests |
| Autosomal recessive congenital ichthyosis 4B | 3 tests |
| Autosomal recessive congenital ichthyosis 6 | 3 tests |
| Autosomal recessive congenital ichthyosis 8 | 3 tests |
| Autosomal recessive cutis laxa type 2B | 7 tests |
| Autosomal recessive distal renal tubular acidosis | 4 tests |
| Autosomal recessive distal spinal muscular atrophy 1 | 8 tests |
| Autosomal recessive early-onset Parkinson disease 6 | 15 tests |
| Autosomal recessive early-onset Parkinson disease 7 | 3 tests |
| Autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius | 7 tests |
| Autosomal recessive hypophosphatemic bone disease | 6 tests |
| Autosomal recessive inherited pseudoxanthoma elasticum | 11 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 9 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 11 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 9 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 9 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 9 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2F | 14 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 12 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 23 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 19 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | 17 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 10 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 28 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 15 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 21 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2P | 5 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 5 tests |
| Autosomal recessive multiple pterygium syndrome | 9 tests |
| Autosomal recessive nonsyndromic hearing loss 12 | 15 tests |
| Autosomal recessive nonsyndromic hearing loss 15 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 18A | 15 tests |
| Autosomal recessive nonsyndromic hearing loss 1A | 17 tests |
| Autosomal recessive nonsyndromic hearing loss 1B | 12 tests |
| Autosomal recessive nonsyndromic hearing loss 2 | 13 tests |
| Autosomal recessive nonsyndromic hearing loss 21 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 23 | 18 tests |
| Autosomal recessive nonsyndromic hearing loss 24 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 25 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 28 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 29 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 3 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 30 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 35 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 36 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 37 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 39 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 4 | 19 tests |
| Autosomal recessive nonsyndromic hearing loss 42 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 48 | 8 tests |
| Autosomal recessive nonsyndromic hearing loss 49 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 53 | 13 tests |
| Autosomal recessive nonsyndromic hearing loss 6 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 61 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 63 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 67 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 7 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 74 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 77 | 9 tests |
| Autosomal recessive nonsyndromic hearing loss 79 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 84A | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 86 | 9 tests |
| Autosomal recessive nonsyndromic hearing loss 89 | 6 tests |
| Autosomal recessive nonsyndromic hearing loss 9 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 91 | 4 tests |
| Autosomal recessive omodysplasia | 3 tests |
| Autosomal recessive optic atrophy, OPA7 type | 8 tests |
| Autosomal recessive osteopetrosis 1 | 9 tests |
| Autosomal recessive osteopetrosis 2 | 4 tests |
| Autosomal recessive osteopetrosis 4 | 5 tests |
| Autosomal recessive osteopetrosis 5 | 5 tests |
| Autosomal recessive osteopetrosis 6 | 2 tests |
| Autosomal recessive osteopetrosis 7 | 7 tests |
| Autosomal recessive osteopetrosis 8 | 3 tests |
| Autosomal recessive polycystic kidney disease | 16 tests |
| Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | 2 tests |
| Autosomal recessive primary microcephaly | 2 tests |
| Autosomal recessive proximal renal tubular acidosis | 7 tests |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 7 tests |
| Autosomal recessive spinocerebellar ataxia 10 | 7 tests |
| Autosomal recessive spinocerebellar ataxia 11 | 5 tests |
| Autosomal recessive spinocerebellar ataxia 13 | 5 tests |
| Autosomal recessive spinocerebellar ataxia 14 | 4 tests |
| Autosomal recessive spinocerebellar ataxia 7 | 19 tests |
| Autosomal recessive spondylometaphyseal dysplasia, Megarbane type | 1 test |
| Autosomal systemic lupus erythematosus type 16 | 3 tests |
| Avascular necrosis | 13 tests |
| Avascular necrosis of femoral head, primary, 1 | 20 tests |
| Avellino corneal dystrophy | 5 tests |
| Axenfeld-Rieger syndrome type 1 | 9 tests |
| Axenfeld-Rieger syndrome type 3 | 9 tests |
| Axial hypotonia | 29 tests |
| Axial muscle weakness | 5 tests |
| Axonal regeneration | 3 tests |
| Azoospermia | 4 tests |
| Azorean disease | 4 tests |
| B-cell lymphoma | 3 tests |
| B4GALT1-congenital disorder of glycosylation | 8 tests |
| BAP1-related tumor predisposition syndrome | 6 tests |
| BCHE, fluoride 2 | 5 tests |
| BENTA disease | 4 tests |
| BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | 1 test |
| BNAR syndrome | 8 tests |
| Babinski sign | 28 tests |
| Bacteremia, susceptibility to, 1 | 3 tests |
| Bacteremia, susceptibility to, 2 | 2 tests |
| Bailey-Bloch congenital myopathy | 3 tests |
| Baller-Gerold syndrome | 11 tests |
| Bamforth-Lazarus syndrome | 3 tests |
| Bannayan-Riley-Ruvalcaba syndrome | 25 tests |
| Baraitser-Winter syndrome | 13 tests |
| Baraitser-winter syndrome 2 | 11 tests |
| Bardet-Biedl syndrome | 59 tests |
| Barrel-shaped chest | 9 tests |
| Barrett esophagus | 4 tests |
| Bartsocas-Papas syndrome 1 | 2 tests |
| Bartter disease type 1 | 3 tests |
| Bartter disease type 2 | 3 tests |
| Bartter disease type 3 | 5 tests |
| Bartter disease type 4A | 10 tests |
| Bartter disease type 4B | 6 tests |
| Basal cell carcinoma | 8 tests |
| Basal cell carcinoma, susceptibility to, 1 | 19 tests |
| Basal ganglia calcification | 5 tests |
| Basal ganglia calcification, idiopathic, 5 | 3 tests |
| Basal laminar drusen | 9 tests |
| Basilar impression | 1 test |
| Beaded hair | 1 test |
| Beare-Stevenson cutis gyrata syndrome | 10 tests |
| Becker muscular dystrophy | 15 tests |
| Beckwith-Wiedemann syndrome | 33 tests |
| Bell-shaped thorax | 13 tests |
| Benign familial hematuria | 13 tests |
| Benign hereditary chorea | 5 tests |
| Benign neoplasm of the central nervous system | 5 tests |
| Benign recurrent intrahepatic cholestasis type 1 | 5 tests |
| Benign recurrent intrahepatic cholestasis type 2 | 9 tests |
| Bent bone dysplasia syndrome 1 | 10 tests |
| Benzene toxicity, susceptibility to | 2 tests |
| Bernard Soulier syndrome | 14 tests |
| Bernard-Soulier syndrome, type A2, autosomal dominant | 12 tests |
| Beta-D-mannosidosis | 9 tests |
| Beta-hydroxyisobutyryl-CoA deacylase deficiency | 3 tests |
| Beta-thalassemia-X-linked thrombocytopenia syndrome | 9 tests |
| Bethlem myopathy 1A | 10 tests |
| Bicornuate uterus | 12 tests |
| Bicuspid aortic valve | 4 tests |
| Bietti crystalline corneoretinal dystrophy | 9 tests |
| Bifid nasal tip | 1 test |
| Bifid scrotum | 4 tests |
| Bifid tongue | 11 tests |
| Bifid uvula | 12 tests |
| Bifunctional peroxisomal enzyme deficiency | 13 tests |
| Bilateral choanal atresia/stenosis | 3 tests |
| Bilateral cryptorchidism | 1 test |
| Bilateral frontoparietal polymicrogyria | 11 tests |
| Bilateral microtia-deafness-cleft palate syndrome | 2 tests |
| Bilateral sensorineural hearing impairment | 6 tests |
| Bilateral squint | 1 test |
| Bilateral tonic-clonic seizure | 11 tests |
| Bilateral undescended testicles | 1 test |
| Bile acid malabsorption, primary, 1 | 3 tests |
| Bile duct proliferation | 5 tests |
| Biliary cirrhosis | 3 tests |
| Biliary tract abnormality | 13 tests |
| Biliary tract neoplasm | 3 tests |
| Bilirubin, serum level of, quantitative trait locus 1 | 10 tests |
| Bimanual synkinesia | 1 test |
| Biotin-responsive basal ganglia disease | 12 tests |
| Biotinidase deficiency | 20 tests |
| Birbeck granule deficiency | 2 tests |
| Birk-Barel syndrome | 3 tests |
| Birt-Hogg-Dube syndrome | 8 tests |
| Bladder exstrophy-epispadias-cloacal extrophy complex | 4 tests |
| Blau syndrome | 5 tests |
| Bleeding disorder platelet type macrothrombocytopenia | 4 tests |
| Bleeding disorder, platelet-type, 13, susceptibility to | 4 tests |
| Blepharophimosis | 23 tests |
| Blepharophimosis - intellectual disability syndrome, MKB type | 14 tests |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 8 tests |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 7 tests |
| Blepharospasm | 12 tests |
| Blindness | 5 tests |
| Bloom syndrome | 19 tests |
| Blue color blindness | 2 tests |
| Blue sclerae | 22 tests |
| Body mass index quantitative trait locus 10 | 2 tests |
| Body mass index quantitative trait locus 11 | 2 tests |
| Body mass index quantitative trait locus 12 | 3 tests |
| Body mass index quantitative trait locus 4 | 7 tests |
| Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | 4 tests |
| Bohring-Opitz syndrome | 4 tests |
| Bombay phenotype | 2 tests |
| Bone Paget disease | 9 tests |
| Bone cyst | 5 tests |
| Bone fragility with contractures, arterial rupture, and deafness | 2 tests |
| Bone marrow hypocellularity | 16 tests |
| Bone mineral density quantitative trait locus 1 | 10 tests |
| Bone osteosarcoma | 21 tests |
| Bone pain | 12 tests |
| Bone spicule pigmentation of the retina | 1 test |
| Boomerang dysplasia | 10 tests |
| Borjeson-Forssman-Lehmann syndrome | 9 tests |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 7 tests |
| Bothnia retinal dystrophy | 8 tests |
| Bowel incontinence | 6 tests |
| Bowen-Conradi syndrome | 3 tests |
| Bowing of the legs | 5 tests |
| Bowing of the long bones | 12 tests |
| Brachycephaly | 38 tests |
| Brachydactyly | 70 tests |
| Brachydactyly type A1 | 5 tests |
| Brachydactyly type A1C | 4 tests |
| Brachydactyly type B1 | 5 tests |
| Brachydactyly type B2 | 4 tests |
| Brachydactyly type C | 4 tests |
| Brachydactyly type D | 3 tests |
| Brachydactyly type E1 | 3 tests |
| Brachydactyly type E2 | 3 tests |
| Brachydactyly-elbow wrist dysplasia syndrome | 4 tests |
| Brachydactyly-syndactyly syndrome | 3 tests |
| Brachyolmia-amelogenesis imperfecta syndrome | 3 tests |
| Brachyrachia (short spine dysplasia) | 11 tests |
| Bradycardia | 10 tests |
| Bradykinesia | 6 tests |
| Bradyopsia | 5 tests |
| Brain atrophy | 18 tests |
| Brain malformation | 1 test |
| Brain small vessel disease 1 with or without ocular anomalies | 16 tests |
| Brain-lung-thyroid syndrome | 5 tests |
| Brainstem dysplasia | 8 tests |
| Branched-chain keto acid dehydrogenase kinase deficiency | 5 tests |
| Branchiooculofacial syndrome | 7 tests |
| Branchiootic syndrome 1 | 10 tests |
| Branchiootic syndrome 3 | 8 tests |
| Branchiootorenal syndrome 1 | 12 tests |
| Branchiootorenal syndrome 2 | 8 tests |
| Breast aplasia | 10 tests |
| Breast cancer, early-onset | 27 tests |
| Breast carcinoma | 6 tests |
| Breast hypoplasia | 2 tests |
| Breast neoplasm | 25 tests |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 19 tests |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 23 tests |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 12 tests |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 9 tests |
| Breasts and/or nipples, aplasia or hypoplasia of, 2 | 1 test |
| Breech presentation | 3 tests |
| Brittle cornea syndrome 1 | 6 tests |
| Brittle cornea syndrome 2 | 6 tests |
| Brittle hair | 10 tests |
| Broad face | 4 tests |
| Broad femoral neck | 2 tests |
| Broad foot | 2 tests |
| Broad forehead | 26 tests |
| Broad hallux | 3 tests |
| Broad nasal tip | 19 tests |
| Broad neck | 6 tests |
| Broad phalanx | 1 test |
| Broad philtrum | 4 tests |
| Broad skull | 1 test |
| Broad thumb | 8 tests |
| Broad-based gait | 11 tests |
| Brody myopathy | 6 tests |
| Bronchiectasis with or without elevated sweat chloride 1 | 47 tests |
| Bronchiectasis with or without elevated sweat chloride 2 | 6 tests |
| Bronchiectasis with or without elevated sweat chloride 3 | 7 tests |
| Brooke-Spiegler syndrome | 6 tests |
| Bruck syndrome 2 | 5 tests |
| Brugada syndrome | 13 tests |
| Brugada syndrome 1 | 18 tests |
| Brugada syndrome 3 | 13 tests |
| Brugada syndrome 4 | 9 tests |
| Brugada syndrome 5 | 14 tests |
| Brugada syndrome 6 | 9 tests |
| Brugada syndrome 7 | 9 tests |
| Brugada syndrome 8 | 10 tests |
| Bruising susceptibility | 13 tests |
| Brunner syndrome | 8 tests |
| Brushfield spots | 4 tests |
| Budd-Chiari syndrome | 11 tests |
| Bulbar palsy | 15 tests |
| Bulbous nose | 6 tests |
| Bulimia nervosa, susceptibility to, 1 | 7 tests |
| Burkitt lymphoma | 2 tests |
| Buruli ulcer, susceptibility to | 2 tests |
| Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type | 5 tests |
| C syndrome | 3 tests |
| C1 inhibitor deficiency | 3 tests |
| C1Q deficiency | 5 tests |
| C3HEX, ability to smell | 1 test |
| CADDS | 1 test |
| CARASIL syndrome | 6 tests |
| CBL-related disorder | 8 tests |
| CEDNIK syndrome | 6 tests |
| CFHR5 deficiency | 5 tests |
| CHARGE syndrome | 21 tests |
| CHIME syndrome | 6 tests |
| CIDEC-related familial partial lipodystrophy | 3 tests |
| CK syndrome | 7 tests |
| CLOVES syndrome | 7 tests |
| CNS demyelination | 8 tests |
| CNS hypomyelination | 16 tests |
| COACH syndrome 1 | 26 tests |
| CODAS syndrome | 1 test |
| COG1 congenital disorder of glycosylation | 4 tests |
| COG4-congenital disorder of glycosylation | 5 tests |
| COG5-congenital disorder of glycosylation | 7 tests |
| COG6-congenital disorder of glycosylation | 6 tests |
| COG7 congenital disorder of glycosylation | 8 tests |
| COG8-congenital disorder of glycosylation | 9 tests |
| COVID-19 | 2 tests |
| CYP2C19-related poor drug metabolism | 2 tests |
| Cafe-au-lait spot | 12 tests |
| Café-au-lait macules with pulmonary stenosis | 23 tests |
| Calcaneovalgus deformity | 3 tests |
| Calcification of the auricular cartilage | 1 test |
| Calcinosis | 6 tests |
| Calcium oxalate urolithiasis | 5 tests |
| Calvarial skull defect | 4 tests |
| Camptodactyly | 23 tests |
| Camptodactyly of finger | 25 tests |
| Camptodactyly of toe | 4 tests |
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | 3 tests |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 17 tests |
| Camptomelic dysplasia | 9 tests |
| Candidiasis, familial, 6 | 3 tests |
| Candidiasis, familial, 8 | 3 tests |
| Capillary infantile hemangioma | 5 tests |
| Capillary malformation-arteriovenous malformation 1 | 9 tests |
| Carcinoid tumor of intestine | 9 tests |
| Carcinoma of colon | 37 tests |
| Carcinoma of pancreas | 40 tests |
| Cardiac arrest | 10 tests |
| Cardiac arrhythmia | 51 tests |
| Cardiac arrhythmia, ankyrin-B-related | 10 tests |
| Cardiac valvular dysplasia, X-linked | 24 tests |
| Cardio-facio-cutaneous syndrome | 20 tests |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 11 tests |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 10 tests |
| Cardiofaciocutaneous syndrome 2 | 13 tests |
| Cardiofaciocutaneous syndrome 3 | 11 tests |
| Cardiofaciocutaneous syndrome 4 | 9 tests |
| Cardiomegaly | 1 test |
| Cardiomyopathy | 34 tests |
| Cardiomyopathy, familial restrictive, 1 | 11 tests |
| Cardiomyopathy, familial restrictive, 3 | 11 tests |
| Cardiomyopathy-hypotonia-lactic acidosis syndrome | 6 tests |
| Carious teeth | 23 tests |
| Carney complex - trismus - pseudocamptodactyly syndrome | 2 tests |
| Carney complex, type 1 | 12 tests |
| Carney-Stratakis syndrome | 12 tests |
| Carnitine acylcarnitine translocase deficiency | 16 tests |
| Carnitine palmitoyl transferase 1A deficiency | 16 tests |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 28 tests |
| Carnitine palmitoyl transferase II deficiency, neonatal form | 28 tests |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 28 tests |
| Carotid intimal medial thickness 1 | 5 tests |
| Carpal tunnel syndrome | 12 tests |
| Carpenter syndrome | 9 tests |
| Cataplexy and narcolepsy | 3 tests |
| Cataract | 96 tests |
| Cataract 1 multiple types | 4 tests |
| Cataract 10 multiple types | 4 tests |
| Cataract 11 multiple types | 7 tests |
| Cataract 12 multiple types | 4 tests |
| Cataract 14 multiple types | 4 tests |
| Cataract 15 multiple types | 4 tests |
| Cataract 16 multiple types | 12 tests |
| Cataract 17 multiple types | 4 tests |
| Cataract 18 | 4 tests |
| Cataract 19 multiple types | 4 tests |
| Cataract 2, multiple types | 4 tests |
| Cataract 20 multiple types | 4 tests |
| Cataract 21 multiple types | 3 tests |
| Cataract 22 multiple types | 4 tests |
| Cataract 23 | 5 tests |
| Cataract 3 multiple types | 4 tests |
| Cataract 30 | 4 tests |
| Cataract 31 multiple types | 4 tests |
| Cataract 33 | 4 tests |
| Cataract 36 | 4 tests |
| Cataract 38 | 8 tests |
| Cataract 39 multiple types | 4 tests |
| Cataract 40 | 8 tests |
| Cataract 41 | 16 tests |
| Cataract 5 multiple types | 4 tests |
| Cataract 6 multiple types | 4 tests |
| Cataract 9 multiple types | 4 tests |
| Catecholaminergic polymorphic ventricular tachycardia | 18 tests |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 9 tests |
| Catecholaminergic polymorphic ventricular tachycardia 4 | 6 tests |
| Catecholaminergic polymorphic ventricular tachycardia 5 | 8 tests |
| Catel-Manzke syndrome | 2 tests |
| Caudal duplication | 2 tests |
| Cavernous hemangioma | 11 tests |
| Cavum septum pellucidum | 3 tests |
| Cayman type cerebellar ataxia | 4 tests |
| Celiac disease, susceptibility to, 3 | 3 tests |
| Celiac disease, susceptibility to, 4 | 2 tests |
| Cellular immunodeficiency | 15 tests |
| Cenani-Lenz syndactyly syndrome | 5 tests |
| Central adrenal insufficiency | 4 tests |
| Central core myopathy | 11 tests |
| Central hypothyroidism | 4 tests |
| Central hypotonia | 4 tests |
| Central precocious puberty 1 | 7 tests |
| Centrally nucleated skeletal muscle fibers | 6 tests |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 5 tests |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 | 4 tests |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 4 tests |
| Cerebellar ataxia-hypogonadism syndrome | 1 test |
| Cerebellar atrophy | 65 tests |
| Cerebellar cyst | 6 tests |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 5 tests |
| Cerebellar dysplasia | 6 tests |
| Cerebellar vermis atrophy | 11 tests |
| Cerebellar vermis hypoplasia | 22 tests |
| Cerebellar-facial-dental syndrome | 1 test |
| Cerebral amyloid angiopathy, APP-related | 4 tests |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 13 tests |
| Cerebral arteriovenous malformation | 2 tests |
| Cerebral atrophy | 51 tests |
| Cerebral calcification | 23 tests |
| Cerebral cavernous malformation | 3 tests |
| Cerebral cavernous malformation 2 | 3 tests |
| Cerebral cavernous malformation 3 | 3 tests |
| Cerebral cortical atrophy | 55 tests |
| Cerebral folate transport deficiency | 16 tests |
| Cerebral hypomyelination | 10 tests |
| Cerebral ischemia | 5 tests |
| Cerebral palsy | 2 tests |
| Cerebral palsy, spastic quadriplegic, 2 | 3 tests |
| Cerebral visual impairment | 15 tests |
| Cerebrooculofacioskeletal syndrome 1 | 15 tests |
| Cerebrooculofacioskeletal syndrome 2 | 11 tests |
| Cerebrooculofacioskeletal syndrome 4 | 6 tests |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 9 tests |
| Cernunnos-XLF deficiency | 7 tests |
| Ceroid lipofuscinosis, neuronal, 6A | 17 tests |
| Cervical cancer | 17 tests |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 12 tests |
| Char syndrome | 4 tests |
| Charcot-Marie-Tooth disease | 10 tests |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 9 tests |
| Charcot-Marie-Tooth disease X-linked recessive 4 | 8 tests |
| Charcot-Marie-Tooth disease X-linked recessive 5 | 16 tests |
| Charcot-Marie-Tooth disease axonal type 2C | 11 tests |
| Charcot-Marie-Tooth disease axonal type 2F | 7 tests |
| Charcot-Marie-Tooth disease axonal type 2K | 6 tests |
| Charcot-Marie-Tooth disease axonal type 2L | 7 tests |
| Charcot-Marie-Tooth disease axonal type 2N | 7 tests |
| Charcot-Marie-Tooth disease axonal type 2O | 12 tests |
| Charcot-Marie-Tooth disease axonal type 2P | 5 tests |
| Charcot-Marie-Tooth disease dominant intermediate B | 8 tests |
| Charcot-Marie-Tooth disease dominant intermediate C | 5 tests |
| Charcot-Marie-Tooth disease dominant intermediate D | 7 tests |
| Charcot-Marie-Tooth disease dominant intermediate E | 9 tests |
| Charcot-Marie-Tooth disease recessive intermediate A | 6 tests |
| Charcot-Marie-Tooth disease recessive intermediate B | 6 tests |
| Charcot-Marie-Tooth disease recessive intermediate C | 6 tests |
| Charcot-Marie-Tooth disease type 1B | 7 tests |
| Charcot-Marie-Tooth disease type 1C | 5 tests |
| Charcot-Marie-Tooth disease type 1D | 7 tests |
| Charcot-Marie-Tooth disease type 1E | 8 tests |
| Charcot-Marie-Tooth disease type 1F | 5 tests |
| Charcot-Marie-Tooth disease type 2A1 | 7 tests |
| Charcot-Marie-Tooth disease type 2A2 | 11 tests |
| Charcot-Marie-Tooth disease type 2B | 5 tests |
| Charcot-Marie-Tooth disease type 2B1 | 24 tests |
| Charcot-Marie-Tooth disease type 2B2 | 4 tests |
| Charcot-Marie-Tooth disease type 2D | 9 tests |
| Charcot-Marie-Tooth disease type 2E | 5 tests |
| Charcot-Marie-Tooth disease type 2I | 7 tests |
| Charcot-Marie-Tooth disease type 2J | 7 tests |
| Charcot-Marie-Tooth disease type 4A | 6 tests |
| Charcot-Marie-Tooth disease type 4B1 | 5 tests |
| Charcot-Marie-Tooth disease type 4B2 | 7 tests |
| Charcot-Marie-Tooth disease type 4C | 5 tests |
| Charcot-Marie-Tooth disease type 4D | 9 tests |
| Charcot-Marie-Tooth disease type 4E | 8 tests |
| Charcot-Marie-Tooth disease type 4F | 6 tests |
| Charcot-Marie-Tooth disease type 4G | 8 tests |
| Charcot-Marie-Tooth disease type 4H | 5 tests |
| Charcot-Marie-Tooth disease type 4J | 6 tests |
| Charcot-Marie-Tooth disease, axonal type | 5 tests |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 6 tests |
| Charcot-Marie-Tooth disease, type IA | 8 tests |
| Charlevoix-Saguenay spastic ataxia | 11 tests |
| Cheilitis | 2 tests |
| Chest pain | 11 tests |
| Chiari type II malformation | 10 tests |
| Chilblain lupus 1 | 9 tests |
| Chilblain lupus 2 | 14 tests |
| Child syndrome | 7 tests |
| Childhood apraxia of speech | 4 tests |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 5 tests |
| Childhood hypophosphatasia | 12 tests |
| Childhood onset GLUT1 deficiency syndrome 2 | 17 tests |
| Childhood-onset schizophrenia | 3 tests |
| Childhood-onset truncal obesity | 8 tests |
| Chitotriosidase deficiency | 2 tests |
| Choanal atresia | 11 tests |
| Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | 3 tests |
| Cholestanol storage disease | 15 tests |
| Cholestasis, intrahepatic, of pregnancy, 1 | 5 tests |
| Cholestasis, intrahepatic, of pregnancy, 3 | 5 tests |
| Chondrocalcinosis | 7 tests |
| Chondrocalcinosis 2 | 8 tests |
| Chondrodysplasia Blomstrand type | 5 tests |
| Chondrodysplasia punctata 2 X-linked dominant | 8 tests |
| Chondrodysplasia with joint dislocations, gPAPP type | 3 tests |
| Chondrosarcoma | 7 tests |
| Chorea | 14 tests |
| Chorea-acanthocytosis | 10 tests |
| Choreoathetosis | 20 tests |
| Chorioretinal atrophy | 5 tests |
| Chorioretinal coloboma | 21 tests |
| Chorioretinal dysplasia | 5 tests |
| Chorioretinal dystrophy | 1 test |
| Choroid plexus carcinoma | 27 tests |
| Choroid plexus papilloma | 8 tests |
| Choroidal dystrophy, central areolar 2 | 7 tests |
| Choroideremia | 12 tests |
| Christianson syndrome | 13 tests |
| Chromosome 2p16.3 deletion syndrome | 8 tests |
| Chromosome 2q32-q33 deletion syndrome | 6 tests |
| Chromosome 2q37 deletion syndrome | 5 tests |
| Chronic bronchitis | 14 tests |
| Chronic calcifying pancreatitis | 1 test |
| Chronic diarrhea | 9 tests |
| Chronic infantile neurological, cutaneous and articular syndrome | 8 tests |
| Chronic kidney disease | 11 tests |
| Chronic lung disease | 8 tests |
| Chronic mucocutaneous candidiasis | 3 tests |
| Chronic myelogenous leukemia, BCR-ABL1 positive | 3 tests |
| Chronic obstructive pulmonary disease | 15 tests |
| Chronic progressive multiple sclerosis | 2 tests |
| Chudley-McCullough syndrome | 6 tests |
| Chuvash polycythemia | 12 tests |
| Chylomicron retention disease | 3 tests |
| Chédiak-Higashi syndrome | 14 tests |
| Cirrhosis of liver | 23 tests |
| Cirrhosis, cryptogenic | 2 tests |
| Cirrhosis, noncryptogenic, susceptibility to | 2 tests |
| Citrullinemia type I | 12 tests |
| Citrullinemia type II | 11 tests |
| Classic Hodgkin lymphoma | 2 tests |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 12 tests |
| Classic dopamine transporter deficiency syndrome | 7 tests |
| Classic homocystinuria | 14 tests |
| Classical primary microcephaly | 1 test |
| Cleft at the superior portion of the pinna | 2 tests |
| Cleft lower alveolar ridge | 1 test |
| Cleft mandible | 1 test |
| Cleft of chin | 3 tests |
| Cleft palate | 74 tests |
| Cleft palate with or without ankyloglossia, X-linked | 3 tests |
| Cleft upper lip | 27 tests |
| Cleidocranial dysostosis | 5 tests |
| Clinodactyly | 32 tests |
| Clinodactyly of the 5th finger | 46 tests |
| Clitoral hypoplasia | 2 tests |
| Clonus | 13 tests |
| Cloverleaf skull | 3 tests |
| Clubbing | 5 tests |
| Clubbing of fingers | 5 tests |
| Clubbing of toes | 1 test |
| Clubfoot | 53 tests |
| Clumsiness | 9 tests |
| Coarctation of aorta | 17 tests |
| Coarse facial features | 25 tests |
| Coarse hair | 18 tests |
| Coarse metaphyseal trabecularization | 13 tests |
| Cobalamin C disease | 19 tests |
| Cobblestone lissencephaly without muscular or ocular involvement | 2 tests |
| Cockayne syndrome type 1 | 10 tests |
| Cockayne syndrome type 2 | 15 tests |
| Cocoon syndrome | 2 tests |
| Coenzyme Q10 deficiency | 6 tests |
| Coenzyme Q10 deficiency, primary, 1 | 14 tests |
| Coenzyme Q10 deficiency, primary, 3 | 14 tests |
| Coffin-Lowry syndrome | 6 tests |
| Coffin-Siris syndrome 1 | 4 tests |
| Cognitive impairment | 153 tests |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 2 tests |
| Cognitive impairment with or without cerebellar ataxia | 10 tests |
| Cohen syndrome | 16 tests |
| Colchicine resistance | 2 tests |
| Cold-induced sweating syndrome | 2 tests |
| Cold-induced sweating syndrome 1 | 2 tests |
| Cole-Carpenter syndrome 1 | 3 tests |
| Colitis | 14 tests |
| Coloboma of optic nerve | 22 tests |
| Coloboma, ocular, autosomal recessive | 4 tests |
| Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | 5 tests |
| Colon serrated polyposis | 1 test |
| Colonic neoplasm | 13 tests |
| Color vision defect | 23 tests |
| Colorectal cancer | 11 tests |
| Colorectal cancer, hereditary nonpolyposis, type 6 | 9 tests |
| Colorectal cancer, hereditary nonpolyposis, type 7 | 4 tests |
| Colorectal cancer, susceptibility to, 1 | 4 tests |
| Colorectal cancer, susceptibility to, 10 | 8 tests |
| Colorectal cancer, susceptibility to, 2 | 22 tests |
| Colorectal cancer, susceptibility to, 3 | 2 tests |
| Combined PSAP deficiency | 12 tests |
| Combined deficiency of sialidase AND beta galactosidase | 10 tests |
| Combined immunodeficiency | 5 tests |
| Combined immunodeficiency due to CD3gamma deficiency | 4 tests |
| Combined immunodeficiency due to DOCK8 deficiency | 7 tests |
| Combined immunodeficiency due to ORAI1 deficiency | 5 tests |
| Combined immunodeficiency due to OX40 deficiency | 2 tests |
| Combined immunodeficiency due to STIM1 deficiency | 8 tests |
| Combined immunodeficiency due to STK4 deficiency | 4 tests |
| Combined immunodeficiency due to ZAP70 deficiency | 7 tests |
| Combined immunodeficiency due to partial RAG1 deficiency | 10 tests |
| Combined immunodeficiency with skin granulomas | 11 tests |
| Combined immunodeficiency, X-linked | 8 tests |
| Combined malonic and methylmalonic acidemia | 10 tests |
| Combined molybdoflavoprotein enzyme deficiency | 7 tests |
| Combined oxidative phosphorylation defect type 14 | 7 tests |
| Combined oxidative phosphorylation defect type 15 | 6 tests |
| Combined oxidative phosphorylation defect type 17 | 6 tests |
| Combined oxidative phosphorylation defect type 2 | 5 tests |
| Combined oxidative phosphorylation defect type 4 | 6 tests |
| Combined oxidative phosphorylation defect type 7 | 11 tests |
| Combined oxidative phosphorylation defect type 8 | 4 tests |
| Combined oxidative phosphorylation defect type 9 | 5 tests |
| Combined oxidative phosphorylation deficiency | 16 tests |
| Common variable immunodeficiency | 8 tests |
| Communicating hydrocephalus | 5 tests |
| Complement component 2 deficiency | 2 tests |
| Complement component 3 deficiency | 6 tests |
| Complement component 5 deficiency | 4 tests |
| Complement component 6 deficiency | 4 tests |
| Complement component 7 deficiency | 4 tests |
| Complement component 9 deficiency | 5 tests |
| Complement component C1r/C1s deficiency | 6 tests |
| Complement component C1s deficiency | 6 tests |
| Complement factor b deficiency | 5 tests |
| Complex cortical dysplasia with other brain malformations | 6 tests |
| Complex cortical dysplasia with other brain malformations 1 | 8 tests |
| Complex cortical dysplasia with other brain malformations 7 | 10 tests |
| Compton-North congenital myopathy | 4 tests |
| Compulsive behaviors | 6 tests |
| Concave nasal ridge | 9 tests |
| Conduction disorder of the heart | 3 tests |
| Conductive hearing impairment | 36 tests |
| Cone dystrophy | 4 tests |
| Cone dystrophy 3 | 5 tests |
| Cone dystrophy 4 | 6 tests |
| Cone dystrophy with supernormal rod response | 6 tests |
| Cone-rod dystrophy | 29 tests |
| Cone-rod dystrophy 10 | 6 tests |
| Cone-rod dystrophy 11 | 6 tests |
| Cone-rod dystrophy 12 | 7 tests |
| Cone-rod dystrophy 13 | 7 tests |
| Cone-rod dystrophy 15 | 6 tests |
| Cone-rod dystrophy 16 | 6 tests |
| Cone-rod dystrophy 18 | 5 tests |
| Cone-rod dystrophy 2 | 7 tests |
| Cone-rod dystrophy 3 | 8 tests |
| Cone-rod dystrophy 5 | 6 tests |
| Cone-rod dystrophy 6 | 7 tests |
| Cone-rod dystrophy 7 | 5 tests |
| Cone-rod dystrophy 9 | 5 tests |
| Cone-rod synaptic disorder, congenital nonprogressive | 5 tests |
| Cone-shaped epiphyses of the phalanges of the hand | 6 tests |
| Cone-shaped epiphysis | 17 tests |
| Congenital absence of salivary gland | 3 tests |
| Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 5 tests |
| Congenital adrenal hypoplasia, X-linked | 11 tests |
| Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 5 tests |
| Congenital amegakaryocytic thrombocytopenia | 16 tests |
| Congenital aniridia | 3 tests |
| Congenital anomalies of kidney and urinary tract 2 | 5 tests |
| Congenital anomaly of face | 1 test |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 25 tests |
| Congenital bile acid synthesis defect 1 | 4 tests |
| Congenital bile acid synthesis defect 2 | 4 tests |
| Congenital bile acid synthesis defect 3 | 7 tests |
| Congenital bile acid synthesis defect 4 | 10 tests |
| Congenital brain dysgenesis due to glutamine synthetase deficiency | 7 tests |
| Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 6 tests |
| Congenital cataracts-facial dysmorphism-neuropathy syndrome | 5 tests |
| Congenital central hypoventilation | 26 tests |
| Congenital cerebellar hypoplasia | 40 tests |
| Congenital contractural arachnodactyly | 8 tests |
| Congenital contracture | 4 tests |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 4 tests |
| Congenital defect of folate absorption | 11 tests |
| Congenital diaphragmatic hernia | 12 tests |
| Congenital diarrhea 5 with tufting enteropathy | 21 tests |
| Congenital diarrhea 6 | 3 tests |
| Congenital diarrhea 7 with exudative enteropathy | 2 tests |
| Congenital disorder of glycosylation | 9 tests |
| Congenital disorder of glycosylation type 1E | 11 tests |
| Congenital disorder of glycosylation type I | 1 test |
| Congenital disorder of glycosylation type Ir | 6 tests |
| Congenital dyserythropoietic anemia type 4 | 2 tests |
| Congenital dyserythropoietic anemia type type 1B | 3 tests |
| Congenital dyserythropoietic anemia, type I | 2 tests |
| Congenital dyserythropoietic anemia, type II | 4 tests |
| Congenital fibrosis of extraocular muscles | 1 test |
| Congenital fibrosis of extraocular muscles type 1 | 4 tests |
| Congenital generalized lipodystrophy | 1 test |
| Congenital generalized lipodystrophy type 1 | 6 tests |
| Congenital generalized lipodystrophy type 2 | 16 tests |
| Congenital generalized lipodystrophy type 3 | 9 tests |
| Congenital glucose-galactose malabsorption | 3 tests |
| Congenital heart defects, multiple types, 2 | 4 tests |
| Congenital heart defects, multiple types, 6 | 5 tests |
| Congenital heart disease | 1 test |
| Congenital hepatic fibrosis | 9 tests |
| Congenital hereditary endothelial dystrophy of cornea | 10 tests |
| Congenital hip dislocation | 16 tests |
| Congenital hyperammonemia, type I | 12 tests |
| Congenital hypotrichosis with juvenile macular dystrophy | 6 tests |
| Congenital ichthyosiform erythroderma | 3 tests |
| Congenital ichthyosis of skin | 9 tests |
| Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | 12 tests |
| Congenital isolated adrenocorticotropic hormone deficiency | 2 tests |
| Congenital lactase deficiency | 3 tests |
| Congenital lactic acidosis | 5 tests |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 13 tests |
| Congenital laryngomalacia | 14 tests |
| Congenital lipoid adrenal hyperplasia due to STAR deficency | 9 tests |
| Congenital malabsorptive diarrhea 4 | 5 tests |
| Congenital megaureter | 1 test |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 9 tests |
| Congenital microvillous atrophy | 3 tests |
| Congenital multicore myopathy with external ophthalmoplegia | 11 tests |
| Congenital muscular dystrophy | 19 tests |
| Congenital muscular dystrophy due to LMNA mutation | 24 tests |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 6 tests |
| Congenital muscular hypertrophy-cerebral syndrome | 10 tests |
| Congenital muscular torticollis | 3 tests |
| Congenital myasthenic syndrome 10 | 5 tests |
| Congenital myasthenic syndrome 12 | 4 tests |
| Congenital myasthenic syndrome 13 | 10 tests |
| Congenital myasthenic syndrome 15 | 3 tests |
| Congenital myasthenic syndrome 16 | 17 tests |
| Congenital myasthenic syndrome 4C | 14 tests |
| Congenital myasthenic syndrome 5 | 5 tests |
| Congenital myasthenic syndrome 8 | 4 tests |
| Congenital myopathy 23 | 8 tests |
| Congenital myopathy 4B, autosomal recessive | 7 tests |
| Congenital myopathy with fiber type disproportion | 28 tests |
| Congenital myotonia, autosomal dominant form | 7 tests |
| Congenital myotonia, autosomal recessive form | 7 tests |
| Congenital nonbullous ichthyosiform erythroderma | 2 tests |
| Congenital nongoitrous hypothyroidism 6 | 3 tests |
| Congenital ocular coloboma | 19 tests |
| Congenital omphalocele | 14 tests |
| Congenital plasminogen activator inhibitor type 1 deficiency | 5 tests |
| Congenital pontocerebellar hypoplasia type 1 | 12 tests |
| Congenital primary aphakia | 6 tests |
| Congenital prothrombin deficiency | 7 tests |
| Congenital secretory diarrhea, chloride type | 7 tests |
| Congenital secretory sodium diarrhea 3 | 3 tests |
| Congenital sensory neuropathy with selective loss of small myelinated fibers | 5 tests |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 8 tests |
| Congenital stationary night blindness | 7 tests |
| Congenital stationary night blindness 1B | 6 tests |
| Congenital stationary night blindness 1C | 5 tests |
| Congenital stationary night blindness 1D | 4 tests |
| Congenital stationary night blindness 1E | 5 tests |
| Congenital stationary night blindness 2A | 7 tests |
| Congenital stationary night blindness autosomal dominant 1 | 8 tests |
| Congenital stationary night blindness autosomal dominant 2 | 6 tests |
| Congenital stationary night blindness autosomal dominant 3 | 5 tests |
| Congenital stromal corneal dystrophy | 5 tests |
| Congenital vertical talus | 11 tests |
| Congenital visual impairment | 2 tests |
| Congestive heart failure | 13 tests |
| Conjunctival hamartoma | 1 test |
| Conjunctival telangiectasia | 4 tests |
| Conjunctival whitish salt-like deposits | 6 tests |
| Conjunctivitis | 6 tests |
| Conotruncal heart malformations | 25 tests |
| Constipation | 24 tests |
| Constitutional megaloblastic anemia with severe neurologic disease | 9 tests |
| Constriction of peripheral visual field | 8 tests |
| Convex nasal ridge | 16 tests |
| Cornea plana 2 | 4 tests |
| Corneal dystrophy | 5 tests |
| Corneal dystrophy, Fuchs endothelial, 1 | 4 tests |
| Corneal dystrophy, Fuchs endothelial, 4 | 10 tests |
| Corneal dystrophy, Fuchs endothelial, 6 | 4 tests |
| Corneal dystrophy, Meesmann, 1 | 5 tests |
| Corneal dystrophy, lattice type 3A | 5 tests |
| Corneal dystrophy-perceptive deafness syndrome | 10 tests |
| Corneal erosion | 3 tests |
| Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | 4 tests |
| Corneal opacity | 13 tests |
| Cornelia de Lange syndrome 1 | 11 tests |
| Cornelia de Lange syndrome 3 | 6 tests |
| Cornelia de Lange syndrome 4 | 3 tests |
| Coronal cleft vertebrae | 1 test |
| Coronal craniosynostosis | 5 tests |
| Coronary artery disease, autosomal dominant 2 | 3 tests |
| Coronary artery disease, autosomal dominant, 1 | 2 tests |
| Coronary artery disorder | 4 tests |
| Coronary artery spasm | 2 tests |
| Coronary heart disease, susceptibility to, 1 | 3 tests |
| Coronary heart disease, susceptibility to, 5 | 2 tests |
| Coronary heart disease, susceptibility to, 6 | 3 tests |
| Coronary heart disease, susceptibility to, 7 | 4 tests |
| Corpus callosum agenesis-abnormal genitalia syndrome | 17 tests |
| Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | 6 tests |
| Corpus callosum, agenesis of | 22 tests |
| Cortical dysplasia | 13 tests |
| Cortical dysplasia-focal epilepsy syndrome | 8 tests |
| Cortical myoclonus | 6 tests |
| Corticosteroid-binding globulin deficiency | 3 tests |
| Corticosterone 18-monooxygenase deficiency | 8 tests |
| Corticosterone methyloxidase type 2 deficiency | 8 tests |
| Cortisone reductase deficiency | 3 tests |
| Cortisone reductase deficiency 2 | 2 tests |
| Costello syndrome | 19 tests |
| Cough | 16 tests |
| Cowden syndrome | 31 tests |
| Cowden syndrome 3 | 9 tests |
| Cowden syndrome 5 | 7 tests |
| Cowden syndrome 6 | 5 tests |
| Coxa vara | 6 tests |
| Coxopodopatellar syndrome | 2 tests |
| Cranial asymmetry | 8 tests |
| Cranial nerve paralysis | 24 tests |
| Craniodiaphyseal dysplasia, autosomal dominant | 4 tests |
| Cranioectodermal dysplasia | 2 tests |
| Cranioectodermal dysplasia 1 | 6 tests |
| Cranioectodermal dysplasia 2 | 7 tests |
| Cranioectodermal dysplasia 3 | 4 tests |
| Cranioectodermal dysplasia 4 | 8 tests |
| Craniofacial anomalies and anterior segment dysgenesis syndrome | 4 tests |
| Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | 4 tests |
| Craniofacial dysplasia - osteopenia syndrome | 4 tests |
| Craniofacial-deafness-hand syndrome | 7 tests |
| Craniofrontonasal syndrome | 5 tests |
| Craniolenticulosutural dysplasia | 2 tests |
| Craniometaphyseal dysplasia, autosomal dominant | 8 tests |
| Craniometaphyseal dysplasia, autosomal recessive | 10 tests |
| Craniosynostosis 2 | 3 tests |
| Craniosynostosis 4 | 3 tests |
| Craniosynostosis 5, susceptibility to | 5 tests |
| Craniosynostosis and dental anomalies | 3 tests |
| Creatine transporter deficiency | 13 tests |
| Crigler-Najjar syndrome | 18 tests |
| Crigler-Najjar syndrome, type II | 10 tests |
| Crouzon syndrome | 10 tests |
| Crouzon syndrome-acanthosis nigricans syndrome | 17 tests |
| Cryptorchidism | 91 tests |
| Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 4 tests |
| Cubitus valgus | 5 tests |
| Cupped ear | 4 tests |
| Cupped ribs | 2 tests |
| Curly hair | 15 tests |
| Currarino triad | 2 tests |
| Curry-Hall syndrome | 12 tests |
| Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 9 tests |
| Cushing syndrome | 13 tests |
| Cutaneous anergy | 3 tests |
| Cutaneous finger syndactyly | 8 tests |
| Cutaneous photosensitivity | 3 tests |
| Cutaneous porphyria | 5 tests |
| Cutis laxa | 5 tests |
| Cutis laxa with osteodystrophy | 11 tests |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 5 tests |
| Cutis laxa, X-linked | 11 tests |
| Cutis laxa, autosomal dominant 1 | 11 tests |
| Cutis laxa, autosomal dominant 2 | 6 tests |
| Cutis laxa, autosomal recessive, type 1A | 6 tests |
| Cutis laxa, autosomal recessive, type 1B | 7 tests |
| Cutis marmorata | 7 tests |
| Cyclical neutropenia | 6 tests |
| Cystathioninuria | 3 tests |
| Cystic fibrosis | 32 tests |
| Cystic hygroma | 27 tests |
| Cystic leukoencephalopathy without megalencephaly | 3 tests |
| Cystic renal dysplasia | 1 test |
| Cystinuria | 8 tests |
| Cytochrome C oxidase-negative muscle fibers | 6 tests |
| D-2-hydroxyglutaric aciduria 1 | 5 tests |
| D-2-hydroxyglutaric aciduria 2 | 5 tests |
| D-Glyceric aciduria | 4 tests |
| DE SANCTIS-CACCHIONE SYNDROME | 15 tests |
| DK1-congenital disorder of glycosylation | 11 tests |
| DNA ligase IV deficiency | 7 tests |
| DPAGT1-congenital disorder of glycosylation | 10 tests |
| DPM3-congenital disorder of glycosylation | 8 tests |
| DYRK1A-related intellectual disability syndrome | 6 tests |
| Dalmatian hypouricemia | 2 tests |
| Dandy-Walker syndrome | 29 tests |
| Danon disease | 16 tests |
| De Lange syndrome | 3 tests |
| Deafness dystonia syndrome | 12 tests |
| Deafness with labyrinthine aplasia, microtia, and microdontia | 6 tests |
| Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 6 tests |
| Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | 10 tests |
| Deafness-infertility syndrome | 3 tests |
| Deafness-intellectual disability, Martin-Probst type syndrome | 3 tests |
| Deafness-lymphedema-leukemia syndrome | 8 tests |
| Death in childhood | 5 tests |
| Death in infancy | 13 tests |
| Decreased HDL cholesterol concentration | 1 test |
| Decreased T cell activation | 3 tests |
| Decreased body weight | 28 tests |
| Decreased circulating IgG concentration | 6 tests |
| Decreased circulating IgG2 concentration | 4 tests |
| Decreased circulating alpha-fetoprotein concentration | 2 tests |
| Decreased circulating antibody concentration | 30 tests |
| Decreased circulating total IgM | 6 tests |
| Decreased corneal thickness | 14 tests |
| Decreased fertility | 9 tests |
| Decreased fetal movement | 11 tests |
| Decreased light- and dark-adapted electroretinogram amplitude | 1 test |
| Decreased liver function | 12 tests |
| Decreased lymphocyte apoptosis | 8 tests |
| Decreased motor nerve conduction velocity | 6 tests |
| Decreased muscle mass | 12 tests |
| Decreased number of peripheral myelinated nerve fibers | 6 tests |
| Decreased proportion of CD4-positive helper T cells | 3 tests |
| Decreased renal tubular phosphate excretion | 6 tests |
| Decreased response to growth hormone stimulation test | 9 tests |
| Decreased serum insulin-like growth factor 1 | 2 tests |
| Decreased skull ossification | 11 tests |
| Decreased testicular size | 14 tests |
| Decreased testosterone in males | 5 tests |
| Deep palmar crease | 1 test |
| Deep philtrum | 11 tests |
| Deep plantar creases | 1 test |
| Deeply set eye | 20 tests |
| Defective T cell proliferation | 3 tests |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 7 tests |
| Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 10 tests |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 14 tests |
| Deficiency of acetyl-CoA acetyltransferase | 14 tests |
| Deficiency of alpha-mannosidase | 10 tests |
| Deficiency of aromatic-L-amino-acid decarboxylase | 7 tests |
| Deficiency of beta-ureidopropionase | 4 tests |
| Deficiency of bisphosphoglycerate mutase | 3 tests |
| Deficiency of butyryl-CoA dehydrogenase | 16 tests |
| Deficiency of cytochrome-b5 reductase | 5 tests |
| Deficiency of ferroxidase | 6 tests |
| Deficiency of galactokinase | 11 tests |
| Deficiency of guanidinoacetate methyltransferase | 16 tests |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 15 tests |
| Deficiency of iodide peroxidase | 3 tests |
| Deficiency of isobutyryl-CoA dehydrogenase | 4 tests |
| Deficiency of malonyl-CoA decarboxylase | 7 tests |
| Deficiency of phosphoserine phosphatase | 1 test |
| Deficiency of ribose-5-phosphate isomerase | 2 tests |
| Deficiency of steroid 11-beta-monooxygenase | 8 tests |
| Deficiency of steroid 17-alpha-monooxygenase | 10 tests |
| Deficiency of transaldolase | 2 tests |
| Degeneration of anterior horn cells | 2 tests |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 2 tests |
| Dehydration | 3 tests |
| Dejerine-Sottas disease | 12 tests |
| Delayed closure of the anterior fontanelle | 3 tests |
| Delayed cranial suture closure | 12 tests |
| Delayed eruption of teeth | 15 tests |
| Delayed gross motor development | 8 tests |
| Delayed myelination | 28 tests |
| Delayed ossification of carpal bones | 1 test |
| Delayed puberty | 7 tests |
| Delayed skeletal maturation | 38 tests |
| Delayed sleep phase syndrome, susceptibility to | 4 tests |
| Delayed speech and language development | 83 tests |
| Delta-0-thalassemia | 2 tests |
| Dementia | 15 tests |
| Dengue virus, susceptibility to | 2 tests |
| Dent disease type 1 | 7 tests |
| Dent disease type 2 | 11 tests |
| Dental crowding | 18 tests |
| Dental enamel pits | 4 tests |
| Dental malocclusion | 20 tests |
| Dentatorubral-pallidoluysian atrophy | 4 tests |
| Denticles | 11 tests |
| Dentin dysplasia type I | 2 tests |
| Dentinogenesis imperfecta type 2 | 6 tests |
| Dentinogenesis imperfecta type 3 | 6 tests |
| Depressed nasal bridge | 48 tests |
| Depressed nasal ridge | 16 tests |
| Depression | 9 tests |
| Dermatitis, atopic, 2 | 4 tests |
| Dermatofibrosarcoma protuberans | 3 tests |
| Dermatofibrosis lenticularis disseminata | 4 tests |
| Dermatopathia pigmentosa reticularis | 3 tests |
| Desbuquois dysplasia 1 | 6 tests |
| Desbuquois dysplasia 2 | 2 tests |
| Desmin-related myofibrillar myopathy | 15 tests |
| Desmosterolosis | 7 tests |
| Developmental and epileptic encephalopathy 94 | 8 tests |
| Developmental and epileptic encephalopathy, 1 | 17 tests |
| Developmental and epileptic encephalopathy, 11 | 10 tests |
| Developmental and epileptic encephalopathy, 12 | 4 tests |
| Developmental and epileptic encephalopathy, 13 | 10 tests |
| Developmental and epileptic encephalopathy, 19 | 8 tests |
| Developmental and epileptic encephalopathy, 2 | 12 tests |
| Developmental and epileptic encephalopathy, 24 | 7 tests |
| Developmental and epileptic encephalopathy, 36 | 8 tests |
| Developmental and epileptic encephalopathy, 39 | 9 tests |
| Developmental and epileptic encephalopathy, 4 | 14 tests |
| Developmental and epileptic encephalopathy, 5 | 6 tests |
| Developmental and epileptic encephalopathy, 7 | 12 tests |
| Developmental and epileptic encephalopathy, 8 | 8 tests |
| Developmental and epileptic encephalopathy, 9 | 14 tests |
| Developmental cataract | 19 tests |
| Developmental delay with autism spectrum disorder and gait instability | 1 test |
| Developmental dysplasia of the hip 1 | 2 tests |
| Developmental malformations-deafness-dystonia syndrome | 13 tests |
| Developmental regression | 33 tests |
| Deviation of finger | 3 tests |
| Deviation of the 5th finger | 2 tests |
| Dextrocardia | 2 tests |
| DiGeorge syndrome | 12 tests |
| Diabetes insipidus | 11 tests |
| Diabetes insipidus, nephrogenic, X-linked | 3 tests |
| Diabetes insipidus, nephrogenic, autosomal | 6 tests |
| Diabetes mellitus | 22 tests |
| Diabetes mellitus type 1 | 16 tests |
| Diabetes mellitus, ketosis-prone | 4 tests |
| Diabetes mellitus, noninsulin-dependent, 1 | 2 tests |
| Diabetes mellitus, transient neonatal, 1 | 6 tests |
| Diabetes mellitus, transient neonatal, 2 | 19 tests |
| Diabetes mellitus, transient neonatal, 3 | 16 tests |
| Diamond-Blackfan anemia | 10 tests |
| Diamond-Blackfan anemia 10 | 5 tests |
| Diamond-Blackfan anemia 3 | 5 tests |
| Diamond-Blackfan anemia 5 | 7 tests |
| Diamond-Blackfan anemia 6 | 6 tests |
| Diamond-Blackfan anemia 7 | 5 tests |
| Diamond-Blackfan anemia 8 | 5 tests |
| Diamond-Blackfan anemia 9 | 5 tests |
| Diaphanospondylodysostosis | 2 tests |
| Diaphragmatic hernia 3 | 6 tests |
| Diaphyseal cortical sclerosis | 2 tests |
| Diaphyseal dysplasia | 5 tests |
| Diarrhea | 15 tests |
| Diastema | 2 tests |
| Diastrophic dysplasia | 10 tests |
| Dicarboxylic aciduria | 2 tests |
| Dicarboxylic aminoaciduria | 1 test |
| Difficulty climbing stairs | 5 tests |
| Difficulty running | 6 tests |
| Difficulty walking | 16 tests |
| Diffuse nonepidermolytic palmoplantar keratoderma | 3 tests |
| Diffuse palmoplantar hyperkeratosis | 2 tests |
| Dihydropteridine reductase deficiency | 12 tests |
| Dihydropyrimidinase deficiency | 3 tests |
| Dihydropyrimidine dehydrogenase deficiency | 14 tests |
| Dilated cardiomyopathy 1A | 24 tests |
| Dilated cardiomyopathy 1AA | 9 tests |
| Dilated cardiomyopathy 1BB | 10 tests |
| Dilated cardiomyopathy 1C | 17 tests |
| Dilated cardiomyopathy 1CC | 8 tests |
| Dilated cardiomyopathy 1D | 11 tests |
| Dilated cardiomyopathy 1DD | 9 tests |
| Dilated cardiomyopathy 1E | 18 tests |
| Dilated cardiomyopathy 1EE | 8 tests |
| Dilated cardiomyopathy 1FF | 11 tests |
| Dilated cardiomyopathy 1G | 19 tests |
| Dilated cardiomyopathy 1GG | 16 tests |
| Dilated cardiomyopathy 1HH | 9 tests |
| Dilated cardiomyopathy 1I | 15 tests |
| Dilated cardiomyopathy 1II | 12 tests |
| Dilated cardiomyopathy 1J | 8 tests |
| Dilated cardiomyopathy 1JJ | 6 tests |
| Dilated cardiomyopathy 1KK | 7 tests |
| Dilated cardiomyopathy 1L | 14 tests |
| Dilated cardiomyopathy 1M | 7 tests |
| Dilated cardiomyopathy 1O | 11 tests |
| Dilated cardiomyopathy 1P | 10 tests |
| Dilated cardiomyopathy 1R | 10 tests |
| Dilated cardiomyopathy 1S | 14 tests |
| Dilated cardiomyopathy 1T | 7 tests |
| Dilated cardiomyopathy 1U | 6 tests |
| Dilated cardiomyopathy 1V | 6 tests |
| Dilated cardiomyopathy 1W | 8 tests |
| Dilated cardiomyopathy 1X | 28 tests |
| Dilated cardiomyopathy 1Y | 9 tests |
| Dilated cardiomyopathy 1Z | 7 tests |
| Dilated cardiomyopathy 2A | 11 tests |
| Dilated cardiomyopathy 2B | 6 tests |
| Dilated cardiomyopathy 3B | 15 tests |
| Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 24 tests |
| Dilated fourth ventricle | 6 tests |
| Dimethylglycine dehydrogenase deficiency | 3 tests |
| Disinhibited behavior | 6 tests |
| Dislocated radial head | 6 tests |
| Disorder due cytochrome p450 CYP2D6 variant | 1 test |
| Displacement of the urethral meatus | 34 tests |
| Disproportionate short stature | 2 tests |
| Disproportionate short-limb short stature | 9 tests |
| Disproportionate short-trunk short stature | 4 tests |
| Disseminated intravascular coagulation | 4 tests |
| Distal amyotrophy | 10 tests |
| Distal arthrogryposis | 3 tests |
| Distal arthrogryposis type 2B1 | 12 tests |
| Distal muscle weakness | 4 tests |
| Distal myopathy with anterior tibial onset | 11 tests |
| Distal myopathy with posterior leg and anterior hand involvement | 13 tests |
| Distal myopathy, Tateyama type | 19 tests |
| Distal sensory impairment | 17 tests |
| Distal shortening of limbs | 2 tests |
| Distal spinal muscular atrophy | 3 tests |
| Distichiasis-lymphedema syndrome | 4 tests |
| Dizygotic twins | 5 tests |
| Dolichocephaly | 11 tests |
| Dominant beta-thalassemia | 17 tests |
| Dominant dystrophic epidermolysis bullosa with absence of skin | 7 tests |
| Donnai-Barrow syndrome | 6 tests |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 12 tests |
| Down syndrome | 9 tests |
| Down-sloping shoulders | 1 test |
| Downslanted palpebral fissures | 72 tests |
| Downturned corners of mouth | 23 tests |
| Doyne honeycomb retinal dystrophy | 6 tests |
| Drash syndrome | 11 tests |
| Drooling | 2 tests |
| Dry skin | 13 tests |
| Duane retraction syndrome 2 | 4 tests |
| Duane-radial ray syndrome | 6 tests |
| Dubin-Johnson syndrome | 4 tests |
| Duchenne muscular dystrophy | 15 tests |
| Duodenal atresia | 14 tests |
| Duodenal stenosis | 1 test |
| Duplication of thumb phalanx | 1 test |
| Dyggve-Melchior-Clausen syndrome | 5 tests |
| Dysarthria | 62 tests |
| Dyschromatosis universalis hereditaria 3 | 5 tests |
| Dysdiadochokinesis | 8 tests |
| Dysequilibrium syndrome | 9 tests |
| Dysgenesis of the cerebellar vermis | 8 tests |
| Dyskeratosis congenita | 4 tests |
| Dyskeratosis congenita, X-linked | 9 tests |
| Dyskeratosis congenita, autosomal dominant 1 | 22 tests |
| Dyskeratosis congenita, autosomal dominant 2 | 10 tests |
| Dyskeratosis congenita, autosomal dominant 3 | 8 tests |
| Dyskeratosis congenita, autosomal recessive 1 | 17 tests |
| Dyskeratosis congenita, autosomal recessive 2 | 8 tests |
| Dyskeratosis congenita, autosomal recessive 3 | 6 tests |
| Dyskinesia | 9 tests |
| Dyskinesia with orofacial involvement, autosomal dominant | 3 tests |
| Dyslexia, susceptibility to, 2 | 2 tests |
| Dysmetria | 20 tests |
| Dysmetric saccades | 7 tests |
| Dysphagia | 40 tests |
| Dysphonia | 14 tests |
| Dysplastic corpus callosum | 2 tests |
| Dyspnea | 12 tests |
| Dyssynergia | 69 tests |
| Dystonia 12 | 7 tests |
| Dystonia 16 | 4 tests |
| Dystonia 5 | 9 tests |
| Dystonia 9 | 17 tests |
| Dystonic disorder | 43 tests |
| EAST syndrome | 11 tests |
| EEG abnormality | 38 tests |
| EEG with irregular generalized spike and wave complexes | 6 tests |
| EEG with photoparoxysmal response | 6 tests |
| EEM syndrome | 6 tests |
| EMG abnormality | 22 tests |
| Early infantile epileptic encephalopathy with suppression bursts | 23 tests |
| Early myoclonic encephalopathy | 8 tests |
| Early-onset generalized limb-onset dystonia | 4 tests |
| Early-onset myopathy with fatal cardiomyopathy | 19 tests |
| Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | 3 tests |
| Easy fatigability | 6 tests |
| Eclampsia | 2 tests |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | 4 tests |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 4 tests |
| Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | 3 tests |
| Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | 3 tests |
| Ectodermal dysplasia 4, hair/nail type | 2 tests |
| Ectodermal dysplasia and immunodeficiency 2 | 5 tests |
| Ectopia lentis | 2 tests |
| Ectopia lentis 1, isolated, autosomal dominant | 14 tests |
| Ectopia lentis 2, isolated, autosomal recessive | 3 tests |
| Ectopia lentis et pupillae | 3 tests |
| Ectopic anus | 7 tests |
| Ectopic kidney | 4 tests |
| Ectopic tissue | 4 tests |
| Ectrodactyly | 16 tests |
| Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | 6 tests |
| Eculizumab, poor response to | 4 tests |
| Eczematoid dermatitis | 10 tests |
| Edema | 3 tests |
| Efavirenz response | 1 test |
| Ehlers-Danlos syndrome progeroid type | 9 tests |
| Ehlers-Danlos syndrome, arthrochalasia type | 10 tests |
| Ehlers-Danlos syndrome, cardiac valvular type | 8 tests |
| Ehlers-Danlos syndrome, classic type | 14 tests |
| Ehlers-Danlos syndrome, dermatosparaxis type | 11 tests |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 6 tests |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 4 tests |
| Ehlers-Danlos syndrome, musculocontractural type | 7 tests |
| Ehlers-Danlos syndrome, spondylocheirodysplastic type | 5 tests |
| Ehlers-Danlos syndrome, spondylodysplastic type, 2 | 5 tests |
| Ehlers-Danlos syndrome, type 3 | 8 tests |
| Ehlers-Danlos syndrome, type 4 | 8 tests |
| Eiken syndrome | 5 tests |
| Elbow dislocation | 6 tests |
| Elbow flexion contracture | 14 tests |
| Elevated circulating acylcarnitine concentration | 2 tests |
| Elevated circulating alkaline phosphatase concentration | 4 tests |
| Elevated circulating branched chain amino acid concentration | 2 tests |
| Elevated circulating creatine kinase concentration | 46 tests |
| Elevated circulating creatinine concentration | 5 tests |
| Elevated circulating growth hormone concentration | 2 tests |
| Elevated circulating hepatic transaminase concentration | 33 tests |
| Elevated circulating thyroid-stimulating hormone concentration | 2 tests |
| Elevated maternal circulating alpha-fetoprotein concentration | 2 tests |
| Elevated red cell adenosine deaminase activity | 2 tests |
| Elliptocytosis 1 | 3 tests |
| Elliptocytosis 2 | 4 tests |
| Ellis-van Creveld syndrome | 13 tests |
| Elongated superior cerebellar peduncle | 8 tests |
| Embryonal rhabdomyosarcoma | 2 tests |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 24 tests |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 9 tests |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 4 tests |
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 12 tests |
| Emotional lability | 9 tests |
| Emphysema | 9 tests |
| Enamel hypoplasia | 10 tests |
| Encephalitis | 8 tests |
| Encephalocele | 23 tests |
| Encephalopathy | 18 tests |
| Encephalopathy due to GLUT1 deficiency | 17 tests |
| Encephalopathy, acute, infection-induced, susceptibility to, 4 | 28 tests |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 8 tests |
| Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 11 tests |
| Endocrine-cerebro-osteodysplasia syndrome | 3 tests |
| Endometrial carcinoma | 39 tests |
| Endometriosis | 3 tests |
| Enhanced S-cone syndrome | 9 tests |
| Enhancement of the C-reflex | 6 tests |
| Enlarged fossa interpeduncularis | 8 tests |
| Enlarged labia minora | 9 tests |
| Enlarged thorax | 19 tests |
| Enterocolitis | 5 tests |
| Enterokinase deficiency | 2 tests |
| Enuresis | 1 test |
| Eosinophil peroxidase deficiency | 3 tests |
| Eosinophilia | 2 tests |
| Epicanthus | 63 tests |
| Epidermal nevus | 38 tests |
| Epidermodysplasia verruciformis, susceptibility to, 1 | 4 tests |
| Epidermolysis bullosa pruriginosa | 7 tests |
| Epidermolysis bullosa simplex 1A, generalized severe | 6 tests |
| Epidermolysis bullosa simplex 1C, localized | 8 tests |
| Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | 6 tests |
| Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 2 tests |
| Epidermolysis bullosa simplex 5B, with muscular dystrophy | 5 tests |
| Epidermolysis bullosa simplex 5C, with pyloric atresia | 5 tests |
| Epidermolysis bullosa simplex 7, with nephropathy and deafness | 5 tests |
| Epidermolysis bullosa simplex due to plakophilin deficiency | 2 tests |
| Epidermolysis bullosa simplex with migratory circinate erythema | 5 tests |
| Epidermolysis bullosa simplex with mottled pigmentation | 5 tests |
| Epidermolysis bullosa simplex, Koebner type | 6 tests |
| Epidermolysis bullosa simplex, Ogna type | 5 tests |
| Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 4 tests |
| Epidermolytic ichthyosis | 5 tests |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 8 tests |
| Epilepsy, childhood absence 2 | 10 tests |
| Epilepsy, childhood absence, susceptibility to, 5 | 9 tests |
| Epilepsy, childhood absence, susceptibility to, 6 | 6 tests |
| Epilepsy, familial focal, with variable foci 1 | 8 tests |
| Epilepsy, familial temporal lobe, 1 | 5 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 8 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 11 | 10 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 17 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 13 | 8 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 8 | 14 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 9 | 7 tests |
| Epilepsy, progressive myoclonic, 1B | 6 tests |
| Epileptic encephalopathy | 30 tests |
| Epileptic spasm | 4 tests |
| Epiphora | 1 test |
| Epiphyseal dysplasia, multiple, 2 | 8 tests |
| Epiphyseal dysplasia, multiple, 3 | 6 tests |
| Epiphyseal dysplasia, multiple, 6 | 10 tests |
| Episodic ataxia type 1 | 12 tests |
| Episodic ataxia type 2 | 17 tests |
| Episodic ataxia type 5 | 7 tests |
| Episodic ataxia type 6 | 8 tests |
| Episodic kinesigenic dyskinesia 1 | 11 tests |
| Episodic pain syndrome, familial, 2 | 7 tests |
| Episodic tachypnea | 8 tests |
| Episodic vomiting | 1 test |
| Epistaxis | 16 tests |
| Epithelial basement membrane dystrophy | 5 tests |
| Erectile dysfunction | 9 tests |
| Erysipelas | 5 tests |
| Erythrocyte AMP deaminase deficiency | 3 tests |
| Erythrocytosis | 1 test |
| Erythrocytosis, familial, 3 | 5 tests |
| Erythrocytosis, familial, 4 | 4 tests |
| Erythroderma | 3 tests |
| Erythroid hypoplasia | 4 tests |
| Erythrokeratoderma, reticular | 4 tests |
| Erythrokeratodermia variabilis et progressiva 1 | 6 tests |
| Esophageal stenosis | 12 tests |
| Esophageal varix | 8 tests |
| Esotropia | 17 tests |
| Essential fructosuria | 2 tests |
| Essential hypertension | 18 tests |
| Essential pentosuria | 3 tests |
| Essential thrombocythemia | 9 tests |
| Essential tremor | 1 test |
| Estrogen resistance syndrome | 1 test |
| Ethylmalonic encephalopathy | 11 tests |
| Euthyroid goiter | 8 tests |
| Euthyroid hyperthyroxinemia | 1 test |
| Everted lower lip vermilion | 20 tests |
| Ewing sarcoma | 2 tests |
| Exaggerated cupid's bow | 4 tests |
| Exercise intolerance | 14 tests |
| Exercise-induced hemolysis | 2 tests |
| Exercise-induced hyperinsulinism | 7 tests |
| Exertional dyspnea | 7 tests |
| Exostoses, multiple, type 2 | 5 tests |
| Exotropia | 6 tests |
| External genital hypoplasia | 3 tests |
| Externally rotated/abducted legs | 8 tests |
| Extrahepatic biliary atresia | 1 test |
| Extramedullary hematopoiesis | 9 tests |
| Extraskeletal myxoid chondrosarcoma | 3 tests |
| Exudative vitreoretinopathy 1 | 12 tests |
| Exudative vitreoretinopathy 2, X-linked | 11 tests |
| Exudative vitreoretinopathy 4 | 10 tests |
| Exudative vitreoretinopathy 5 | 5 tests |
| Eyelid apraxia | 1 test |
| Eyelid coloboma | 11 tests |
| Ezetimibe response | 2 tests |
| FADD-related immunodeficiency | 3 tests |
| FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 | 2 tests |
| FG syndrome 1 | 14 tests |
| FG syndrome 2 | 24 tests |
| FRAXE | 4 tests |
| Fabry disease | 15 tests |
| Facial diplegia | 3 tests |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 8 tests |
| Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | 2 tests |
| Facial palsy | 30 tests |
| Facioscapulohumeral muscular dystrophy 1 | 3 tests |
| Factor 5 and Factor VIII, combined deficiency of, 2 | 4 tests |
| Factor H deficiency | 9 tests |
| Factor V and factor VIII, combined deficiency of, type 1 | 4 tests |
| Factor V deficiency | 8 tests |
| Factor VII deficiency | 6 tests |
| Factor X deficiency | 5 tests |
| Factor XII deficiency disease | 7 tests |
| Factor XIII, A subunit, deficiency of | 6 tests |
| Factor XIII, b subunit, deficiency of | 6 tests |
| Failure to thrive | 72 tests |
| Fair hair | 9 tests |
| Falls | 4 tests |
| Familial Mediterranean fever | 9 tests |
| Familial Mediterranean fever, autosomal dominant | 9 tests |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 6 tests |
| Familial acne inversa | 3 tests |
| Familial acute necrotizing encephalopathy | 5 tests |
| Familial adenomatous polyposis 1 | 12 tests |
| Familial adenomatous polyposis 2 | 8 tests |
| Familial amyloid nephropathy with urticaria AND deafness | 8 tests |
| Familial aortopathy | 1 test |
| Familial aplasia of the vermis | 41 tests |
| Familial apolipoprotein C-II deficiency | 3 tests |
| Familial atrial myxoma | 12 tests |
| Familial atrioventricular septal defect | 5 tests |
| Familial benign flecked retina | 6 tests |
| Familial benign pemphigus | 3 tests |
| Familial cancer of breast | 68 tests |
| Familial chronic mucocutaneous candidiasis | 3 tests |
| Familial cold autoinflammatory syndrome | 9 tests |
| Familial cold autoinflammatory syndrome 2 | 4 tests |
| Familial cold autoinflammatory syndrome 3 | 5 tests |
| Familial colorectal cancer | 2 tests |
| Familial congenital nasolacrimal duct obstruction | 1 test |
| Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 6 tests |
| Familial cylindromatosis | 6 tests |
| Familial digital arthropathy-brachydactyly | 11 tests |
| Familial encephalopathy with neuroserpin inclusion bodies | 6 tests |
| Familial episodic pain syndrome | 2 tests |
| Familial episodic pain syndrome with predominantly upper body involvement | 1 test |
| Familial expansile osteolysis | 7 tests |
| Familial exudative vitreoretinopathy | 7 tests |
| Familial gestational hyperthyroidism | 4 tests |
| Familial hemophagocytic lymphohistiocytosis 2 | 4 tests |
| Familial hemophagocytic lymphohistiocytosis 3 | 4 tests |
| Familial hemophagocytic lymphohistiocytosis 4 | 5 tests |
| Familial hemophagocytic lymphohistiocytosis 5 | 4 tests |
| Familial hyperaldosteronism type III | 8 tests |
| Familial hypercholesterolemia | 17 tests |
| Familial hyperkalemic periodic paralysis | 12 tests |
| Familial hyperthyroidism due to mutations in TSH receptor | 4 tests |
| Familial hypobetalipoproteinemia | 6 tests |
| Familial hypobetalipoproteinemia 1 | 6 tests |
| Familial hypobetalipoproteinemia 2 | 2 tests |
| Familial hypocalciuric hypercalcemia | 14 tests |
| Familial hypocalciuric hypercalcemia 1 | 3 tests |
| Familial hypokalemia-hypomagnesemia | 10 tests |
| Familial hypoparathyroidism | 4 tests |
| Familial idiopathic hypercalciuria | 2 tests |
| Familial infantile myasthenia | 6 tests |
| Familial isolated congenital asplenia | 2 tests |
| Familial isolated deficiency of vitamin E | 13 tests |
| Familial juvenile hyperuricemic nephropathy type 1 | 7 tests |
| Familial juvenile hyperuricemic nephropathy type 2 | 6 tests |
| Familial medullary thyroid carcinoma | 21 tests |
| Familial melanoma | 1 test |
| Familial meningioma | 36 tests |
| Familial multiple trichoepitheliomata | 6 tests |
| Familial partial lipodystrophy, Dunnigan type | 24 tests |
| Familial porencephaly | 16 tests |
| Familial porphyria cutanea tarda | 9 tests |
| Familial prostate cancer | 2 tests |
| Familial pulmonary capillary hemangiomatosis | 2 tests |
| Familial renal glucosuria | 3 tests |
| Familial retinal arterial macroaneurysm | 3 tests |
| Familial scaphocephaly syndrome, McGillivray type | 10 tests |
| Familial spontaneous pneumothorax | 8 tests |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 9 tests |
| Familial temporal lobe epilepsy 5 | 7 tests |
| Familial thoracic aortic aneurysm and aortic dissection | 6 tests |
| Familial type 5 hyperlipoproteinemia | 4 tests |
| Familial ventricular tachycardia | 1 test |
| Familial visceral amyloidosis, Ostertag type | 10 tests |
| Fanconi anemia | 1 test |
| Fanconi anemia complementation group A | 10 tests |
| Fanconi anemia complementation group B | 10 tests |
| Fanconi anemia complementation group C | 17 tests |
| Fanconi anemia complementation group D1 | 23 tests |
| Fanconi anemia complementation group D2 | 6 tests |
| Fanconi anemia complementation group E | 6 tests |
| Fanconi anemia complementation group F | 6 tests |
| Fanconi anemia complementation group G | 11 tests |
| Fanconi anemia complementation group I | 6 tests |
| Fanconi anemia complementation group J | 13 tests |
| Fanconi anemia complementation group L | 6 tests |
| Fanconi anemia complementation group N | 14 tests |
| Fanconi anemia complementation group O | 12 tests |
| Fanconi anemia complementation group P | 7 tests |
| Fanconi anemia complementation group Q | 10 tests |
| Fanconi anemia complementation group T | 1 test |
| Fanconi anemia, complementation group M | 6 tests |
| Fanconi renotubular syndrome 2 | 4 tests |
| Fanconi syndrome | 4 tests |
| Fanconi-Bickel syndrome | 8 tests |
| Farber lipogranulomatosis | 6 tests |
| Fasciculations | 19 tests |
| Fasting plasma glucose level quantitative trait locus 5 | 3 tests |
| Fatal familial insomnia | 4 tests |
| Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 9 tests |
| Fatigable weakness | 3 tests |
| Fatigue | 4 tests |
| Febrile seizure (within the age range of 3 months to 6 years) | 2 tests |
| Febrile seizures, familial, 11 | 7 tests |
| Febrile seizures, familial, 4 | 9 tests |
| Febrile seizures, familial, 8 | 10 tests |
| Feeding difficulties | 48 tests |
| Feeding difficulties in infancy | 50 tests |
| Feingold syndrome type 1 | 6 tests |
| Female pseudohermaphroditism | 13 tests |
| Femoral bowing | 12 tests |
| Fetal akinesia deformation sequence 1 | 18 tests |
| Fetal akinesia-cerebral and retinal hemorrhage syndrome | 8 tests |
| Fetal growth restriction | 72 tests |
| Fetal hemoglobin quantitative trait locus 1 | 17 tests |
| Fetal megacystis | 1 test |
| Fever | 6 tests |
| Fibrochondrogenesis 1 | 10 tests |
| Fibrochondrogenesis 2 | 13 tests |
| Fibroma | 2 tests |
| Fibrosarcoma | 2 tests |
| Fibrosis of extraocular muscles, congenital, 2 | 3 tests |
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 8 tests |
| Fibrous Sheath Dysplasia | 1 test |
| Fibrous dysplasia of jaw | 5 tests |
| Fibular hypoplasia | 1 test |
| Filippi syndrome | 3 tests |
| Fine hair | 8 tests |
| Finger syndactyly | 35 tests |
| Fingerprint intracellular accumulation of autofluorescent lipopigment storage material | 9 tests |
| Finnish congenital nephrotic syndrome | 10 tests |
| Finnish type amyloidosis | 5 tests |
| Fish-eye disease | 7 tests |
| Flank pain | 1 test |
| Flared metaphysis | 3 tests |
| Flat acetabular roof | 3 tests |
| Flat capital femoral epiphysis | 1 test |
| Flat face | 6 tests |
| Flat forehead | 1 test |
| Flat occiput | 10 tests |
| Flattened femoral head | 1 test |
| Fleck corneal dystrophy | 4 tests |
| Flexed deformity | 1 test |
| Flexion contracture | 35 tests |
| Floating-Harbor syndrome | 5 tests |
| Focal dermal hypoplasia | 8 tests |
| Focal epilepsy | 1 test |
| Focal facial dermal dysplasia type III | 2 tests |
| Focal impaired awareness seizure | 9 tests |
| Focal segmental glomerulosclerosis | 10 tests |
| Focal segmental glomerulosclerosis 1 | 4 tests |
| Focal segmental glomerulosclerosis 2 | 5 tests |
| Focal segmental glomerulosclerosis 3, susceptibility to | 5 tests |
| Focal segmental glomerulosclerosis 4, susceptibility to | 4 tests |
| Focal segmental glomerulosclerosis 5 | 9 tests |
| Focal segmental glomerulosclerosis 6 | 3 tests |
| Focal-onset seizure | 12 tests |
| Follicular hyperplasia | 8 tests |
| Follicular lymphoma, susceptibility to, 1 | 3 tests |
| Foot dorsiflexor weakness | 11 tests |
| Foot oligodactyly | 2 tests |
| Foot polydactyly | 15 tests |
| Forearm reduction defects | 4 tests |
| Forebrain defects | 2 tests |
| Foveal hypoplasia 1 | 18 tests |
| Fowler syndrome | 2 tests |
| Fragile X syndrome | 18 tests |
| Fragile X-associated tremor/ataxia syndrome | 18 tests |
| Fragile site 11b | 8 tests |
| Fragile skin | 3 tests |
| Frank-Ter Haar syndrome | 6 tests |
| Fraser syndrome 1 | 7 tests |
| Frasier syndrome | 11 tests |
| Freckling | 6 tests |
| Freeman-Sheldon syndrome | 5 tests |
| Frequent falls | 6 tests |
| Friedreich ataxia 1 | 12 tests |
| Frontal bossing | 44 tests |
| Frontal encephalocele | 9 tests |
| Frontometaphyseal dysplasia 1 | 24 tests |
| Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | 3 tests |
| Frontonasal dysplasia with alopecia and genital anomaly | 5 tests |
| Frontoparietal polymicrogyria | 7 tests |
| Frontotemporal dementia | 16 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | 9 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 6 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | 4 tests |
| Fructose-biphosphatase deficiency | 8 tests |
| Fuchs' endothelial dystrophy | 3 tests |
| Fucosidosis | 7 tests |
| Fucosyltransferase 6 deficiency | 2 tests |
| Fuhrmann syndrome | 3 tests |
| Full cheeks | 21 tests |
| Fulminant hepatic failure | 2 tests |
| Fumarase deficiency | 20 tests |
| Functional abnormality of male internal genitalia | 1 test |
| Furrowed tongue | 6 tests |
| GAPO syndrome | 1 test |
| GATA binding protein 1 related thrombocytopenia with dyserythropoiesis | 9 tests |
| GIL BLOOD GROUP | 1 test |
| GLYCEROL QUANTITATIVE TRAIT LOCUS | 1 test |
| GM1 gangliosidosis | 1 test |
| GM1 gangliosidosis type 2 | 15 tests |
| GM1 gangliosidosis type 3 | 14 tests |
| GM1-gangliosidosis, type I, with cardiac involvement | 1 test |
| GM3 synthase deficiency | 6 tests |
| GNE myopathy | 16 tests |
| GNPTG-mucolipidosis | 13 tests |
| GRACILE syndrome | 20 tests |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 12 tests |
| GTP cyclohydrolase I deficiency | 9 tests |
| Gait ataxia | 28 tests |
| Gait disturbance | 47 tests |
| Galactorrhea | 1 test |
| Galactosialidosis, early infantile | 1 test |
| Galactosialidosis, late infantile | 1 test |
| Galactosylceramide beta-galactosidase deficiency | 16 tests |
| Gallbladder disease 4 | 5 tests |
| Galloway-Mowat syndrome 1 | 2 tests |
| Gallstones | 2 tests |
| Gamma-aminobutyric acid transaminase deficiency | 8 tests |
| Gamma-glutamylcysteine synthetase deficiency | 2 tests |
| Gangrene | 3 tests |
| Gardner syndrome | 12 tests |
| Gastric cancer | 8 tests |
| Gastric lymphoma | 3 tests |
| Gastritis | 5 tests |
| Gastroesophageal reflux | 27 tests |
| Gastrointestinal hemorrhage | 24 tests |
| Gastrointestinal stromal tumor | 29 tests |
| Gaucher disease due to saposin C deficiency | 12 tests |
| Gaucher disease perinatal lethal | 16 tests |
| Gaucher disease type I | 16 tests |
| Gaucher disease type II | 16 tests |
| Gaucher disease type III | 16 tests |
| Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | 16 tests |
| Gaze palsy, familial horizontal, with progressive scoliosis 1 | 5 tests |
| Gaze-evoked horizontal nystagmus | 6 tests |
| Gaze-evoked nystagmus | 7 tests |
| Gelatinous droplike corneal dystrophy | 4 tests |
| Geleophysic dysplasia 2 | 14 tests |
| Generalized amyotrophy | 13 tests |
| Generalized dominant dystrophic epidermolysis bullosa | 7 tests |
| Generalized dystonia | 10 tests |
| Generalized epilepsy | 6 tests |
| Generalized epilepsy with febrile seizures plus | 6 tests |
| Generalized epilepsy with febrile seizures plus, type 1 | 14 tests |
| Generalized epilepsy with febrile seizures plus, type 2 | 14 tests |
| Generalized epilepsy with febrile seizures plus, type 7 | 12 tests |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 5 tests |
| Generalized hyperpigmentation | 24 tests |
| Generalized hypopigmentation | 3 tests |
| Generalized hypotonia | 14 tests |
| Generalized juvenile polyposis/juvenile polyposis coli | 19 tests |
| Generalized lipodystrophy | 2 tests |
| Generalized muscle weakness | 4 tests |
| Generalized myoclonic seizure | 5 tests |
| Generalized non-motor (absence) seizure | 11 tests |
| Generalized osteoporosis | 4 tests |
| Generalized pustular psoriasis | 4 tests |
| Generalized tonic seizure | 6 tests |
| Genitopatellar syndrome | 8 tests |
| Genu recurvatum | 8 tests |
| Genu valgum | 9 tests |
| Genu varum | 7 tests |
| Geroderma osteodysplastica | 4 tests |
| Gerstmann-Straussler-Scheinker syndrome | 4 tests |
| Ghosal hematodiaphyseal dysplasia | 6 tests |
| Giant axonal neuropathy 1 | 8 tests |
| Giant somatosensory evoked potentials | 6 tests |
| Gilbert syndrome | 18 tests |
| Gilbert syndrome, susceptibility to | 9 tests |
| Gillespie syndrome | 18 tests |
| Gingival bleeding | 8 tests |
| Gingival fibromatosis | 1 test |
| Gingival overgrowth | 14 tests |
| Gingivitis | 1 test |
| Glanzmann thrombasthenia | 7 tests |
| Glaucoma | 49 tests |
| Glaucoma 1, open angle, A | 5 tests |
| Glaucoma 1, open angle, F | 2 tests |
| Glaucoma 1, open angle, G | 4 tests |
| Glaucoma 1, open angle, O | 4 tests |
| Glaucoma 3, primary congenital, D | 6 tests |
| Glaucoma 3, primary infantile, B | 13 tests |
| Glaucoma 3A | 11 tests |
| Glaucoma, normal tension, susceptibility to | 16 tests |
| Glioma susceptibility 1 | 6 tests |
| Glioma susceptibility 2 | 25 tests |
| Glioma susceptibility 3 | 23 tests |
| Gliosis | 18 tests |
| Global brain atrophy | 2 tests |
| Global developmental delay | 212 tests |
| Globozoospermia | 4 tests |
| Glomerulopathy | 1 test |
| Glomerulopathy with fibronectin deposits 2 | 4 tests |
| Glomuvenous malformation | 2 tests |
| Glossoptosis | 5 tests |
| Glucocorticoid deficiency 1 | 4 tests |
| Glucocorticoid deficiency 2 | 4 tests |
| Glucocorticoid deficiency with achalasia | 5 tests |
| Glucocorticoid resistance | 3 tests |
| Glucocorticoid therapy, response to | 2 tests |
| Glucocorticoid-remediable aldosteronism | 8 tests |
| Glucose intolerance | 6 tests |
| Glucose-6-phosphate transport defect | 13 tests |
| Glutamate formiminotransferase deficiency | 3 tests |
| Glutaric aciduria | 2 tests |
| Glutaric aciduria, type 1 | 13 tests |
| Glutaryl-CoA oxidase deficiency | 4 tests |
| Glutathione synthetase deficiency without 5-oxoprolinuria | 7 tests |
| Gluthathione peroxidase deficiency | 2 tests |
| Glycine N-methyltransferase deficiency | 3 tests |
| Glycogen storage disease IXa1 | 7 tests |
| Glycogen storage disease IXb | 6 tests |
| Glycogen storage disease IXc | 7 tests |
| Glycogen storage disease IXd | 7 tests |
| Glycogen storage disease XV | 7 tests |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 17 tests |
| Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | 4 tests |
| Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | 5 tests |
| Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 7 tests |
| Glycogen storage disease due to muscle beta-enolase deficiency | 5 tests |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 12 tests |
| Glycogen storage disease type III | 14 tests |
| Glycogen storage disease type X | 7 tests |
| Glycogen storage disease, type II | 20 tests |
| Glycogen storage disease, type IV | 12 tests |
| Glycogen storage disease, type V | 11 tests |
| Glycogen storage disease, type VI | 6 tests |
| Glycogen storage disease, type VII | 10 tests |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 7 tests |
| Glycosuria | 13 tests |
| Gnathodiaphyseal dysplasia | 10 tests |
| Goiter | 2 tests |
| Gonadal dysgenesis | 7 tests |
| Gonadotropin-independent familial sexual precocity | 8 tests |
| Gordon syndrome | 4 tests |
| Gorlin syndrome | 12 tests |
| Gowers sign | 11 tests |
| Graft-versus-host disease, susceptibility to | 4 tests |
| Granular cell cancer | 1 test |
| Granulomatous disease, chronic, X-linked | 6 tests |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 8 tests |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 3 tests |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | 3 tests |
| Gray platelet syndrome | 5 tests |
| Grebe syndrome | 4 tests |
| Greenberg dysplasia | 5 tests |
| Greig cephalopolysyndactyly syndrome | 13 tests |
| Griscelli syndrome type 1 | 5 tests |
| Griscelli syndrome type 2 | 7 tests |
| Griscelli syndrome type 3 | 4 tests |
| Groenouw corneal dystrophy type I | 5 tests |
| Growth abnormality | 3 tests |
| Growth delay | 41 tests |
| Growth delay due to insulin-like growth factor I resistance | 4 tests |
| Growth delay due to insulin-like growth factor type 1 deficiency | 3 tests |
| Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 6 tests |
| Guillain-Barre syndrome, familial | 8 tests |
| Guttmacher syndrome | 3 tests |
| Gynecomastia | 22 tests |
| H syndrome | 5 tests |
| HNSHA due to aldolase A deficiency | 5 tests |
| HSD10 mitochondrial disease | 13 tests |
| Haim-Munk syndrome | 5 tests |
| Hair morphology 1 | 3 tests |
| Hajdu-Cheney syndrome | 10 tests |
| Hallucinations | 10 tests |
| Hallux valgus | 4 tests |
| Hamartoma | 1 test |
| Hamartoma of hypothalamus | 13 tests |
| Hamartoma of tongue | 7 tests |
| Hammertoe | 6 tests |
| Hand clenching | 8 tests |
| Hand oligodactyly | 9 tests |
| Hand polydactyly | 15 tests |
| Hand tremor | 2 tests |
| Hand-foot-genital syndrome | 3 tests |
| Hashimoto thyroiditis | 3 tests |
| Hawkinsinuria | 7 tests |
| Hb SS disease | 17 tests |
| Head titubation | 4 tests |
| Head tremor | 6 tests |
| Headache | 1 test |
| Hearing abnormality | 2 tests |
| Hearing impairment | 86 tests |
| Hearing loss, X-linked 4 | 4 tests |
| Hearing loss, X-linked 6 | 5 tests |
| Hearing loss, autosomal recessive | 14 tests |
| Heart septal defect | 23 tests |
| Heart-hand syndrome, Slovenian type | 24 tests |
| Hecht syndrome | 2 tests |
| Heinz body anemia | 17 tests |
| Helicobacter pylori infection, susceptibility to | 4 tests |
| Helicoid peripapillary chorioretinal degeneration | 4 tests |
| Hemangioma | 8 tests |
| Hematochezia | 6 tests |
| Hematologic neoplasm | 8 tests |
| Hematuria | 14 tests |
| Heme oxygenase 1 deficiency | 2 tests |
| Hemeralopia | 5 tests |
| Hemifacial hypertrophy | 17 tests |
| Hemifacial spasm | 8 tests |
| Hemimegalencephaly | 8 tests |
| Hemiparesis | 2 tests |
| Hemiplegia/hemiparesis | 34 tests |
| Hemivertebrae | 4 tests |
| Hemochromatosis type 1 | 10 tests |
| Hemochromatosis type 2B | 5 tests |
| Hemochromatosis type 3 | 9 tests |
| Hemochromatosis type 4 | 6 tests |
| Hemochromatosis type 5 | 4 tests |
| Hemoglobin H disease | 15 tests |
| Hemoglobinuria | 2 tests |
| Hemolytic anemia | 24 tests |
| Hemolytic anemia due to adenylate kinase deficiency | 2 tests |
| Hemolytic anemia due to glucophosphate isomerase deficiency | 4 tests |
| Hemolytic anemia due to hexokinase deficiency | 8 tests |
| Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | 1 test |
| Hemolytic uremic syndrome, atypical, susceptibility to | 7 tests |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 9 tests |
| Hemolytic-uremic syndrome | 6 tests |
| Hemoptysis | 5 tests |
| Hemorrhage, intracerebral, susceptibility to | 21 tests |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 6 tests |
| Heparan sulfate excretion in urine | 8 tests |
| Heparin cofactor II deficiency | 6 tests |
| Hepatic adenomas, familial | 7 tests |
| Hepatic methionine adenosyltransferase deficiency | 4 tests |
| Hepatic steatosis | 10 tests |
| Hepatic veno-occlusive disease-immunodeficiency syndrome | 6 tests |
| Hepatitis | 2 tests |
| Hepatitis B virus, susceptibility to | 7 tests |
| Hepatitis C virus, susceptibility to | 11 tests |
| Hepatocellular carcinoma | 24 tests |
| Hepatocellular necrosis | 8 tests |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 11 tests |
| Hepatoerythropoietic porphyria | 1 test |
| Hepatomegaly | 72 tests |
| Hepatosplenomegaly | 5 tests |
| Hereditary acrodermatitis enteropathica | 8 tests |
| Hereditary angioedema type 1 | 3 tests |
| Hereditary angioedema type 3 | 6 tests |
| Hereditary antithrombin deficiency | 5 tests |
| Hereditary arterial and articular multiple calcification syndrome | 2 tests |
| Hereditary cancer-predisposing syndrome | 33 tests |
| Hereditary cerebral amyloid angiopathy, Icelandic type | 3 tests |
| Hereditary coproporphyria | 5 tests |
| Hereditary diffuse gastric adenocarcinoma | 17 tests |
| Hereditary diffuse leukoencephalopathy with spheroids | 4 tests |
| Hereditary disease | 14671 tests |
| Hereditary factor IX deficiency disease | 8 tests |
| Hereditary factor VIII deficiency disease | 7 tests |
| Hereditary factor XI deficiency disease | 13 tests |
| Hereditary fructosuria | 12 tests |
| Hereditary gingival fibromatosis | 10 tests |
| Hereditary hypercarotenemia and vitamin A deficiency | 2 tests |
| Hereditary hyperferritinemia with congenital cataracts | 7 tests |
| Hereditary hypotrichosis with recurrent skin vesicles | 2 tests |
| Hereditary insensitivity to pain with anhidrosis | 9 tests |
| Hereditary intrinsic factor deficiency | 3 tests |
| Hereditary liability to pressure palsies | 8 tests |
| Hereditary lymphedema type I | 3 tests |
| Hereditary motor and sensory neuropathy with optic atrophy | 11 tests |
| Hereditary motor and sensory neuropathy, Okinawa type | 2 tests |
| Hereditary myopathy with lactic acidosis due to ISCU deficiency | 7 tests |
| Hereditary neutrophilia | 5 tests |
| Hereditary nonpolyposis colorectal carcinoma | 15 tests |
| Hereditary pancreatitis | 29 tests |
| Hereditary sensory and autonomic neuropathy type 1 | 6 tests |
| Hereditary sensory and autonomic neuropathy type 6 | 3 tests |
| Hereditary sensory and autonomic neuropathy with spastic paraplegia | 1 test |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 9 tests |
| Hereditary spastic paraplegia | 4 tests |
| Hereditary spastic paraplegia 10 | 9 tests |
| Hereditary spastic paraplegia 11 | 8 tests |
| Hereditary spastic paraplegia 12 | 3 tests |
| Hereditary spastic paraplegia 13 | 7 tests |
| Hereditary spastic paraplegia 15 | 8 tests |
| Hereditary spastic paraplegia 17 | 16 tests |
| Hereditary spastic paraplegia 18 | 2 tests |
| Hereditary spastic paraplegia 2 | 13 tests |
| Hereditary spastic paraplegia 30 | 8 tests |
| Hereditary spastic paraplegia 31 | 9 tests |
| Hereditary spastic paraplegia 33 | 3 tests |
| Hereditary spastic paraplegia 35 | 9 tests |
| Hereditary spastic paraplegia 39 | 7 tests |
| Hereditary spastic paraplegia 3A | 10 tests |
| Hereditary spastic paraplegia 4 | 10 tests |
| Hereditary spastic paraplegia 42 | 7 tests |
| Hereditary spastic paraplegia 43 | 7 tests |
| Hereditary spastic paraplegia 44 | 6 tests |
| Hereditary spastic paraplegia 47 | 4 tests |
| Hereditary spastic paraplegia 48 | 3 tests |
| Hereditary spastic paraplegia 50 | 3 tests |
| Hereditary spastic paraplegia 51 | 3 tests |
| Hereditary spastic paraplegia 5A | 7 tests |
| Hereditary spastic paraplegia 6 | 3 tests |
| Hereditary spastic paraplegia 64 | 2 tests |
| Hereditary spastic paraplegia 7 | 10 tests |
| Hereditary spherocytosis type 1 | 4 tests |
| Hereditary spherocytosis type 2 | 4 tests |
| Hereditary spherocytosis type 3 | 4 tests |
| Hereditary spherocytosis type 4 | 8 tests |
| Hereditary spherocytosis type 5 | 4 tests |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 20 tests |
| Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | 4 tests |
| Hereditary xanthinuria type 1 | 2 tests |
| Hermansky-Pudlak syndrome 1 | 12 tests |
| Hermansky-Pudlak syndrome 2 | 11 tests |
| Hermansky-Pudlak syndrome 3 | 12 tests |
| Hermansky-Pudlak syndrome 4 | 8 tests |
| Hermansky-Pudlak syndrome 5 | 8 tests |
| Hermansky-Pudlak syndrome 6 | 8 tests |
| Hermansky-Pudlak syndrome 7 | 9 tests |
| Hermansky-Pudlak syndrome 8 | 8 tests |
| Hermansky-Pudlak syndrome 9 | 8 tests |
| Hernia of the abdominal wall | 10 tests |
| Herpes simplex encephalitis, susceptibility to, 1 | 2 tests |
| Herpes simplex encephalitis, susceptibility to, 3 | 3 tests |
| Herpes simplex encephalitis, susceptibility to, 4 | 3 tests |
| Heterotaxy, visceral, 1, X-linked | 7 tests |
| Heterotaxy, visceral, 4, autosomal | 5 tests |
| Heterotopia, periventricular, X-linked dominant | 24 tests |
| Hiatus hernia | 7 tests |
| Hidrotic ectodermal dysplasia syndrome | 12 tests |
| High CSF lactic acid | 2 tests |
| High anterior hairline | 3 tests |
| High density lipoprotein cholesterol level quantitative trait locus 12 | 3 tests |
| High density lipoprotein cholesterol level quantitative trait locus 6 | 2 tests |
| High forehead | 41 tests |
| High molecular weight kininogen deficiency | 4 tests |
| High myopia | 13 tests |
| High myopia-sensorineural deafness syndrome | 6 tests |
| High palate | 59 tests |
| Highly arched eyebrow | 36 tests |
| Hip contracture | 17 tests |
| Hip dislocation | 5 tests |
| Hip dysplasia, Beukes type | 1 test |
| Hip subluxation | 1 test |
| Hirschsprung disease, cardiac defects, and autonomic dysfunction | 3 tests |
| Hirschsprung disease, susceptibility to, 1 | 13 tests |
| Hirschsprung disease, susceptibility to, 2 | 7 tests |
| Hirschsprung disease, susceptibility to, 3 | 5 tests |
| Hirschsprung disease, susceptibility to, 4 | 9 tests |
| Hirsutism | 10 tests |
| Histidinemia | 3 tests |
| Histiocytic medullary reticulosis | 13 tests |
| Histiocytoma | 2 tests |
| Hoarse voice | 1 test |
| Holocarboxylase synthetase deficiency | 13 tests |
| Holoprosencephaly 11 | 3 tests |
| Holoprosencephaly 2 | 7 tests |
| Holoprosencephaly 3 | 8 tests |
| Holoprosencephaly 4 | 7 tests |
| Holoprosencephaly 5 | 7 tests |
| Holoprosencephaly 7 | 10 tests |
| Holoprosencephaly 9 | 9 tests |
| Holoprosencephaly sequence | 16 tests |
| Holt-Oram syndrome | 8 tests |
| Homocystinuria | 7 tests |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 10 tests |
| Horizontal eyebrow | 2 tests |
| Horizontal nystagmus | 4 tests |
| Horizontal ribs | 4 tests |
| Horseshoe kidney | 26 tests |
| Human HOXA1 syndromes | 5 tests |
| Huntington disease | 3 tests |
| Huntington disease-like 1 | 4 tests |
| Huntington disease-like 2 | 2 tests |
| Huppke-Brendel syndrome | 7 tests |
| Hurler syndrome | 13 tests |
| Hurthle cell carcinoma of thyroid | 5 tests |
| Hutchinson-Gilford syndrome | 24 tests |
| Hyaline fibromatosis syndrome | 6 tests |
| Hydatidiform mole, recurrent, 1 | 3 tests |
| Hydatidiform mole, recurrent, 2 | 2 tests |
| Hydrocele testis | 1 test |
| Hydrocephalus | 67 tests |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 2 tests |
| Hydrolethalus syndrome 1 | 7 tests |
| Hydrolethalus syndrome 2 | 13 tests |
| Hydronephrosis | 4 tests |
| Hydrops fetalis | 7 tests |
| Hydroureter | 1 test |
| Hydroxykynureninuria | 3 tests |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 6 tests |
| Hyper-IgE syndrome | 7 tests |
| Hyper-IgM syndrome type 1 | 7 tests |
| Hyper-IgM syndrome type 2 | 4 tests |
| Hyper-IgM syndrome type 3 | 5 tests |
| Hyper-IgM syndrome type 5 | 6 tests |
| Hyper-beta-alaninemia | 10 tests |
| Hyperactive airways | 1 test |
| Hyperactive patellar reflex | 1 test |
| Hyperactivity | 11 tests |
| Hyperalphalipoproteinemia 1 | 2 tests |
| Hyperammonemia | 8 tests |
| Hyperammonemia, type III | 10 tests |
| Hyperapobetalipoproteinemia, susceptibility to | 2 tests |
| Hyperbilirubinemia | 9 tests |
| Hyperbiliverdinemia | 2 tests |
| Hypercalcemia | 4 tests |
| Hypercalcemia, infantile, 1 | 3 tests |
| Hypercalciuria | 1 test |
| Hypercholanemia, familial 1 | 10 tests |
| Hypercholesterolemia | 1 test |
| Hypercholesterolemia, autosomal dominant, 3 | 6 tests |
| Hypercholesterolemia, autosomal dominant, type B | 6 tests |
| Hypercholesterolemia, familial, 4 | 7 tests |
| Hypercortisolism | 3 tests |
| Hyperekplexia 1 | 10 tests |
| Hyperekplexia 2 | 5 tests |
| Hyperekplexia 3 | 3 tests |
| Hyperextensibility of the finger joints | 1 test |
| Hyperextensible skin | 9 tests |
| Hyperglycemia | 3 tests |
| Hyperglycinuria | 6 tests |
| Hyperhidrosis | 26 tests |
| Hyperimmunoglobulin D with periodic fever | 7 tests |
| Hyperinsulinemia | 15 tests |
| Hyperinsulinemic hypoglycemia | 1 test |
| Hyperinsulinemic hypoglycemia, familial, 1 | 19 tests |
| Hyperinsulinemic hypoglycemia, familial, 2 | 16 tests |
| Hyperinsulinemic hypoglycemia, familial, 4 | 12 tests |
| Hyperinsulinism due to INSR deficiency | 12 tests |
| Hyperinsulinism due to glucokinase deficiency | 10 tests |
| Hyperinsulinism-hyperammonemia syndrome | 12 tests |
| Hyperkeratosis | 23 tests |
| Hyperlipidemia | 2 tests |
| Hyperlipidemia due to hepatic triglyceride lipase deficiency | 3 tests |
| Hyperlipidemia, combined, 1 | 2 tests |
| Hyperlipidemia, familial combined, LPL related | 9 tests |
| Hyperlipoproteinemia, type 1D | 2 tests |
| Hyperlipoproteinemia, type I | 8 tests |
| Hyperlordosis | 13 tests |
| Hyperlysinemia | 6 tests |
| Hypermagnesemia | 3 tests |
| Hypermelanotic macule | 14 tests |
| Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | 3 tests |
| Hypermetropia | 13 tests |
| Hypernasal speech | 7 tests |
| Hypernatremia | 1 test |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 16 tests |
| Hyperparathyroidism | 1 test |
| Hyperparathyroidism 1 | 5 tests |
| Hyperphenylalaninemia | 7 tests |
| Hyperphosphatasemia tarda | 4 tests |
| Hyperphosphatasemia with bone disease | 4 tests |
| Hyperphosphatasia with intellectual disability syndrome 1 | 6 tests |
| Hyperphosphatasia with intellectual disability syndrome 2 | 5 tests |
| Hyperphosphatasia-intellectual disability syndrome | 2 tests |
| Hyperphosphatemia | 7 tests |
| Hyperphosphaturia | 16 tests |
| Hyperpigmentation with or without hypopigmentation, familial progressive | 4 tests |
| Hyperprolinemia type 2 | 8 tests |
| Hyperreflexia | 1 test |
| Hypertelorism | 85 tests |
| Hypertension, diastolic, resistance to | 3 tests |
| Hypertensive crisis | 5 tests |
| Hypertensive disorder | 25 tests |
| Hyperthyroidism | 2 tests |
| Hyperthyroxinemia, dystransthyretinemic | 12 tests |
| Hyperthyroxinemia, familial dysalbuminemic | 2 tests |
| Hypertonia | 51 tests |
| Hypertrichosis | 43 tests |
| Hypertrichotic osteochondrodysplasia Cantu type | 11 tests |
| Hypertriglyceridemia | 1 test |
| Hypertriglyceridemia 1 | 5 tests |
| Hypertrophic cardiomyopathy | 41 tests |
| Hypertrophic cardiomyopathy 1 | 27 tests |
| Hypertrophic cardiomyopathy 10 | 9 tests |
| Hypertrophic cardiomyopathy 11 | 10 tests |
| Hypertrophic cardiomyopathy 12 | 7 tests |
| Hypertrophic cardiomyopathy 13 | 7 tests |
| Hypertrophic cardiomyopathy 14 | 8 tests |
| Hypertrophic cardiomyopathy 15 | 8 tests |
| Hypertrophic cardiomyopathy 16 | 7 tests |
| Hypertrophic cardiomyopathy 17 | 6 tests |
| Hypertrophic cardiomyopathy 18 | 10 tests |
| Hypertrophic cardiomyopathy 19 | 6 tests |
| Hypertrophic cardiomyopathy 2 | 11 tests |
| Hypertrophic cardiomyopathy 20 | 8 tests |
| Hypertrophic cardiomyopathy 25 | 12 tests |
| Hypertrophic cardiomyopathy 3 | 9 tests |
| Hypertrophic cardiomyopathy 4 | 9 tests |
| Hypertrophic cardiomyopathy 6 | 14 tests |
| Hypertrophic cardiomyopathy 7 | 11 tests |
| Hypertrophic cardiomyopathy 8 | 8 tests |
| Hypertrophic cardiomyopathy 9 | 19 tests |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | 3 tests |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 2 tests |
| Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | 5 tests |
| Hyphema | 4 tests |
| Hypoalbuminemia | 8 tests |
| Hypoalphalipoproteinemia, primary, 1 | 5 tests |
| Hypobetalipoproteinemia | 4 tests |
| Hypocalcemia | 8 tests |
| Hypocalciuria | 3 tests |
| Hypochondroplasia | 17 tests |
| Hypochromic microcytic anemia | 8 tests |
| Hypofibrinogenemia | 8 tests |
| Hypoglycemia | 21 tests |
| Hypoglycemic seizures | 3 tests |
| Hypogonadism | 7 tests |
| Hypogonadotropic hypogonadism | 1 test |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 8 tests |
| Hypogonadotropic hypogonadism 10 with or without anosmia | 7 tests |
| Hypogonadotropic hypogonadism 11 with or without anosmia | 7 tests |
| Hypogonadotropic hypogonadism 12 with or without anosmia | 7 tests |
| Hypogonadotropic hypogonadism 13 with or without anosmia | 7 tests |
| Hypogonadotropic hypogonadism 14 with or without anosmia | 5 tests |
| Hypogonadotropic hypogonadism 16 with or without anosmia | 6 tests |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 15 tests |
| Hypogonadotropic hypogonadism 24 without anosmia | 5 tests |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 7 tests |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 20 tests |
| Hypogonadotropic hypogonadism 6 with or without anosmia | 7 tests |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 10 tests |
| Hypogonadotropic hypogonadism 8 with or without anosmia | 7 tests |
| Hypogonadotropic hypogonadism 9 with or without anosmia | 7 tests |
| Hypohidrosis | 11 tests |
| Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | 6 tests |
| Hypohidrotic X-linked ectodermal dysplasia | 5 tests |
| Hypoinsulinemic hypoglycemia and body hemihypertrophy | 8 tests |
| Hypokalemic alkalosis | 3 tests |
| Hypokalemic periodic paralysis, type 1 | 15 tests |
| Hypokalemic periodic paralysis, type 2 | 12 tests |
| Hypokinesia | 16 tests |
| Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | 4 tests |
| Hypomelanotic macule | 1 test |
| Hypomimic face | 3 tests |
| Hypomyelinating leukodystrophy 2 | 6 tests |
| Hypomyelinating leukodystrophy 3 | 3 tests |
| Hypomyelinating leukodystrophy 4 | 7 tests |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 6 tests |
| Hypomyelination and Congenital Cataract | 7 tests |
| Hypoparathyroidism | 5 tests |
| Hypoparathyroidism, deafness, renal disease syndrome | 6 tests |
| Hypoparathyroidism-retardation-dysmorphism syndrome | 4 tests |
| Hypophosphatemia | 1 test |
| Hypophosphatemic nephrolithiasis/osteoporosis 1 | 4 tests |
| Hypophosphatemic nephrolithiasis/osteoporosis 2 | 3 tests |
| Hypophosphatemic rickets | 8 tests |
| Hypophosphatemic rickets, X-linked recessive | 7 tests |
| Hypophosphatemic rickets, autosomal recessive, 1 | 6 tests |
| Hypophosphatemic rickets, autosomal recessive, 2 | 9 tests |
| Hypopigmentation of hair | 17 tests |
| Hypopigmentation of the fundus | 3 tests |
| Hypopigmentation of the skin | 14 tests |
| Hypopigmentation-punctate palmoplantar keratoderma syndrome | 9 tests |
| Hypopigmented skin patches | 29 tests |
| Hypoplasia of penis | 44 tests |
| Hypoplasia of scrotum | 7 tests |
| Hypoplasia of the brainstem | 24 tests |
| Hypoplasia of the calcaneus | 2 tests |
| Hypoplasia of the corpus callosum | 79 tests |
| Hypoplasia of the ear cartilage | 7 tests |
| Hypoplasia of the femoral head | 1 test |
| Hypoplasia of the iris | 7 tests |
| Hypoplasia of the maxilla | 10 tests |
| Hypoplasia of the pons | 14 tests |
| Hypoplasia of the radius | 5 tests |
| Hypoplasia of the thymus | 9 tests |
| Hypoplasia of the ulna | 5 tests |
| Hypoplasia of the zygomatic bone | 11 tests |
| Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 3 tests |
| Hypoplastic fifth toenail | 3 tests |
| Hypoplastic iliac wing | 2 tests |
| Hypoplastic inferior ilia | 2 tests |
| Hypoplastic ischia | 2 tests |
| Hypoplastic labia majora | 3 tests |
| Hypoplastic left atrium | 4 tests |
| Hypoplastic left heart syndrome | 4 tests |
| Hypoplastic left heart syndrome 1 | 10 tests |
| Hypoplastic left heart syndrome 2 | 13 tests |
| Hypoplastic nipples | 4 tests |
| Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome | 4 tests |
| Hypoplastic pelvis | 4 tests |
| Hypoplastic pubic bone | 1 test |
| Hypoplastic sacrum | 2 tests |
| Hypoplastic spleen | 3 tests |
| Hypoplastic superior helix | 2 tests |
| Hypoplastic thumbnail | 1 test |
| Hypoplastic toenails | 12 tests |
| Hypoplastic vertebral bodies | 1 test |
| Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 11 tests |
| Hypoproteinemia, hypercatabolic | 4 tests |
| Hyporeflexia | 43 tests |
| Hyporeflexia of lower limbs | 1 test |
| Hyposmia | 3 tests |
| Hypospadias | 27 tests |
| Hypospadias 1, X-linked | 6 tests |
| Hypospadias 2, X-linked | 2 tests |
| Hypotelorism | 19 tests |
| Hypotension | 5 tests |
| Hypothalamic hypothyroidism | 1 test |
| Hypothyroidism | 15 tests |
| Hypothyroidism due to TSH receptor mutations | 4 tests |
| Hypothyroidism, congenital, nongoitrous, 2 | 3 tests |
| Hypothyroidism, congenital, nongoitrous, 5 | 13 tests |
| Hypothyroidism, congenital, nongoitrous, 7 | 3 tests |
| Hypotonia | 196 tests |
| Hypotonia with lactic acidemia and hyperammonemia | 5 tests |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 4 tests |
| Hypotonia-failure to thrive-microcephaly syndrome | 2 tests |
| Hypotrichosis | 3 tests |
| Hypotrichosis 1 | 3 tests |
| Hypotrichosis 12 | 2 tests |
| Hypotrichosis 2 | 2 tests |
| Hypotrichosis 3 | 3 tests |
| Hypotrichosis 4 | 3 tests |
| Hypotrichosis 6 | 3 tests |
| Hypotrichosis 7 | 3 tests |
| Hypotrichosis-lymphedema-telangiectasia syndrome | 2 tests |
| Hypouricemia, renal, 2 | 2 tests |
| Hypsarrhythmia | 20 tests |
| IFAP syndrome 1, with or without BRESHECK syndrome | 4 tests |
| IL21-related infantile inflammatory bowel disease | 2 tests |
| IMAGe syndrome | 10 tests |
| IMPDH2 enzyme activity, variation in | 2 tests |
| Ichthyosis | 18 tests |
| Ichthyosis bullosa of Siemens | 3 tests |
| Ichthyosis hystrix of Curth-Macklin | 3 tests |
| Ichthyosis prematurity syndrome | 5 tests |
| Ichthyosis vulgaris | 4 tests |
| Ichthyosis, hystrix-like, with hearing loss | 13 tests |
| Idiopathic CD4 lymphocytopenia | 6 tests |
| Idiopathic basal ganglia calcification 1 | 4 tests |
| Idiopathic hypereosinophilic syndrome | 5 tests |
| IgA glomerulonephritis | 2 tests |
| IgAD1 | 5 tests |
| IgE responsiveness, atopic | 14 tests |
| Iliac crest serration | 1 test |
| Imbalanced hemoglobin synthesis | 2 tests |
| Imerslund-Grasbeck syndrome | 4 tests |
| Iminoglycinuria | 6 tests |
| Immotile cilia | 4 tests |
| Immotile sperm | 6 tests |
| Immunodeficiency | 31 tests |
| Immunodeficiency 104 | 7 tests |
| Immunodeficiency 14 | 6 tests |
| Immunodeficiency 18 | 5 tests |
| Immunodeficiency 19 | 5 tests |
| Immunodeficiency 25 | 5 tests |
| Immunodeficiency 27A | 4 tests |
| Immunodeficiency 28 | 3 tests |
| Immunodeficiency 31B | 4 tests |
| Immunodeficiency 32B | 4 tests |
| Immunodeficiency 35 | 5 tests |
| Immunodeficiency 51 | 3 tests |
| Immunodeficiency 67 | 4 tests |
| Immunodeficiency due to CD25 deficiency | 5 tests |
| Immunodeficiency due to MASP-2 deficiency | 3 tests |
| Immunodeficiency due to ficolin3 deficiency | 3 tests |
| Immunodeficiency, common variable, 1 | 5 tests |
| Immunodeficiency, common variable, 2 | 9 tests |
| Immunodeficiency, common variable, 3 | 4 tests |
| Immunodeficiency, common variable, 5 | 4 tests |
| Immunodeficiency, common variable, 6 | 4 tests |
| Immunodeficiency, common variable, 7 | 5 tests |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 5 tests |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 5 tests |
| Immunoglobulin A deficiency 2 | 4 tests |
| Impaired ADP-induced platelet aggregation | 2 tests |
| Impaired distal tactile sensation | 1 test |
| Impaired distal vibration sensation | 1 test |
| Impaired horizontal smooth pursuit | 4 tests |
| Impaired mastication | 2 tests |
| Impaired pain sensation | 2 tests |
| Impaired smooth pursuit | 11 tests |
| Impaired vibration sensation in the lower limbs | 4 tests |
| Imperforate anus | 2 tests |
| Inability to walk | 12 tests |
| Inappropriate laughter | 2 tests |
| Inborn glycerol kinase deficiency | 5 tests |
| Inborn mitochondrial myopathy | 1 test |
| Inborn organic aciduria | 11 tests |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 6 tests |
| Incoordination | 56 tests |
| Increased CSF lactate | 15 tests |
| Increased LDL cholesterol concentration | 1 test |
| Increased analgesia from kappa-opioid receptor agonist, female-specific | 5 tests |
| Increased bone mineral density | 6 tests |
| Increased circulating antibody concentration | 15 tests |
| Increased circulating ferritin concentration | 6 tests |
| Increased circulating gonadotropin level | 1 test |
| Increased circulating lactate concentration | 36 tests |
| Increased connective tissue | 3 tests |
| Increased hepatocellular lipid droplets | 6 tests |
| Increased intracranial pressure | 7 tests |
| Increased intramyocellular lipid droplets | 6 tests |
| Increased jitter at single fiber EMG | 3 tests |
| Increased mean platelet volume | 4 tests |
| Increased muscle glycogen content | 3 tests |
| Increased neuronal autofluorescent lipopigment | 9 tests |
| Increased nuchal translucency | 2 tests |
| Increased overbite | 1 test |
| Increased red cell hemolysis by shear stress | 2 tests |
| Increased renal tubular phosphate reabsorption | 6 tests |
| Increased serum pyruvate | 6 tests |
| Increased urinary cortisol level | 3 tests |
| Infantile GM1 gangliosidosis | 15 tests |
| Infantile bilateral striatal necrosis | 3 tests |
| Infantile cerebellar-retinal degeneration | 10 tests |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 11 tests |
| Infantile convulsions and choreoathetosis | 12 tests |
| Infantile cortical hyperostosis | 9 tests |
| Infantile epilepsy | 1 test |
| Infantile hypophosphatasia | 12 tests |
| Infantile liver failure | 2 tests |
| Infantile myofibromatosis | 2 tests |
| Infantile nephronophthisis | 14 tests |
| Infantile neuroaxonal dystrophy | 13 tests |
| Infantile-onset X-linked spinal muscular atrophy | 4 tests |
| Infantile-onset ascending hereditary spastic paralysis | 7 tests |
| Infertility associated with multi-tailed spermatozoa and excessive DNA | 5 tests |
| Infertility disorder | 20 tests |
| Inflammatory abnormality of the eye | 20 tests |
| Inflammatory bowel disease 1 | 6 tests |
| Inflammatory bowel disease 10 | 2 tests |
| Inflammatory bowel disease 13 | 2 tests |
| Inflammatory bowel disease 14 | 2 tests |
| Inflammatory bowel disease 17 | 2 tests |
| Inflammatory bowel disease 25 | 4 tests |
| Inflammatory bowel disease 28 | 4 tests |
| Inflammatory skin and bowel disease, neonatal, 1 | 3 tests |
| Influenza, severe, susceptibility to | 2 tests |
| Inguinal hernia | 14 tests |
| Inherited Creutzfeldt-Jakob disease | 4 tests |
| Inherited bleeding disorder, platelet-type | 7 tests |
| Inherited glutathione synthetase deficiency | 7 tests |
| Inherited orthostatic hypotension | 4 tests |
| Inherited susceptibility to asthma | 13 tests |
| Inosine triphosphatase deficiency | 2 tests |
| Insulin insensitivity | 2 tests |
| Insulin resistance | 2 tests |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 7 tests |
| Insulin-resistant diabetes mellitus AND acanthosis nigricans | 12 tests |
| Intellectual developmental disorder with autism and macrocephaly | 5 tests |
| Intellectual disability | 175 tests |
| Intellectual disability, FRA12A type | 2 tests |
| Intellectual disability, X-linked 1 | 9 tests |
| Intellectual disability, X-linked 19 | 6 tests |
| Intellectual disability, X-linked 21 | 5 tests |
| Intellectual disability, X-linked 30 | 5 tests |
| Intellectual disability, X-linked 41 | 4 tests |
| Intellectual disability, X-linked 45 | 4 tests |
| Intellectual disability, X-linked 46 | 4 tests |
| Intellectual disability, X-linked 58 | 4 tests |
| Intellectual disability, X-linked 63 | 6 tests |
| Intellectual disability, X-linked 72 | 8 tests |
| Intellectual disability, X-linked 9 | 4 tests |
| Intellectual disability, X-linked 90 | 4 tests |
| Intellectual disability, X-linked 91 | 3 tests |
| Intellectual disability, X-linked 93 | 5 tests |
| Intellectual disability, X-linked 96 | 6 tests |
| Intellectual disability, X-linked 97 | 4 tests |
| Intellectual disability, X-linked 99 | 4 tests |
| Intellectual disability, X-linked syndromic, Turner type | 6 tests |
| Intellectual disability, X-linked, with or without seizures, arx-related | 17 tests |
| Intellectual disability, X-linked, with panhypopituitarism | 7 tests |
| Intellectual disability, anterior maxillary protrusion, and strabismus | 3 tests |
| Intellectual disability, autosomal dominant 1 | 8 tests |
| Intellectual disability, autosomal dominant 10 | 3 tests |
| Intellectual disability, autosomal dominant 11 | 2 tests |
| Intellectual disability, autosomal dominant 13 | 12 tests |
| Intellectual disability, autosomal dominant 14 | 4 tests |
| Intellectual disability, autosomal dominant 15 | 8 tests |
| Intellectual disability, autosomal dominant 16 | 9 tests |
| Intellectual disability, autosomal dominant 2 | 7 tests |
| Intellectual disability, autosomal dominant 20 | 10 tests |
| Intellectual disability, autosomal dominant 3 | 3 tests |
| Intellectual disability, autosomal dominant 4 | 4 tests |
| Intellectual disability, autosomal dominant 5 | 8 tests |
| Intellectual disability, autosomal dominant 6 | 6 tests |
| Intellectual disability, autosomal dominant 8 | 7 tests |
| Intellectual disability, autosomal dominant 9 | 8 tests |
| Intellectual disability, autosomal recessive 1 | 3 tests |
| Intellectual disability, autosomal recessive 13 | 4 tests |
| Intellectual disability, autosomal recessive 14 | 4 tests |
| Intellectual disability, autosomal recessive 18 | 4 tests |
| Intellectual disability, autosomal recessive 2 | 3 tests |
| Intellectual disability, autosomal recessive 3 | 3 tests |
| Intellectual disability, autosomal recessive 34 | 3 tests |
| Intellectual disability, autosomal recessive 5 | 3 tests |
| Intellectual disability, autosomal recessive 6 | 3 tests |
| Intellectual disability, autosomal recessive 7 | 5 tests |
| Intellectual disability, mild | 20 tests |
| Intellectual disability, moderate | 14 tests |
| Intellectual disability, profound | 5 tests |
| Intellectual disability, progressive | 1 test |
| Intellectual disability, severe | 15 tests |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 5 tests |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 12 tests |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 4 tests |
| Intention tremor | 10 tests |
| Interferon gamma receptor deficiency | 1 test |
| Interleukin 6, serum level of, quantitative trait locus | 2 tests |
| Interstitial lung disease 2 | 27 tests |
| Interstitial lung disease due to ABCA3 deficiency | 4 tests |
| Interstitial nephritis | 6 tests |
| Intervertebral disc disorder | 16 tests |
| Intestinal atresia | 6 tests |
| Intestinal bleeding | 4 tests |
| Intestinal hypomagnesemia 1 | 4 tests |
| Intestinal malrotation | 8 tests |
| Intestinal obstruction | 7 tests |
| Intestinal polyposis | 13 tests |
| Intestinal pseudo-obstruction | 2 tests |
| Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 24 tests |
| Intracranial hemorrhage | 14 tests |
| Intractable seizure | 1 test |
| Intrahepatic biliary dysgenesis | 4 tests |
| Invasive pneumococcal disease, recurrent isolated | 5 tests |
| Inversion of nipple | 2 tests |
| Involuntary movements | 14 tests |
| Iodotyrosine deiodination defect | 2 tests |
| Iodotyrosyl coupling defect | 3 tests |
| Irido-corneo-trabecular dysgenesis | 25 tests |
| Iris atrophy | 2 tests |
| Iris coloboma | 39 tests |
| Iron deficiency anemia | 8 tests |
| Iron deposition in globus pallidus | 1 test |
| Irregular capital femoral epiphysis | 1 test |
| Irregular dentition | 5 tests |
| Irregular hyperpigmentation | 17 tests |
| Irregular menstruation | 3 tests |
| Irregular vertebral endplates | 1 test |
| Irritability | 5 tests |
| Ischemic stroke | 13 tests |
| Isolated Pierre-Robin syndrome | 1 test |
| Isolated congenital digital clubbing | 3 tests |
| Isolated focal cortical dysplasia type II | 19 tests |
| Isolated growth hormone deficiency type IB | 3 tests |
| Isolated hereditary congenital facial paralysis | 5 tests |
| Isolated hyperchlorhidrosis | 3 tests |
| Isolated lutropin deficiency | 7 tests |
| Isolated microcephaly | 165 tests |
| Isolated microphthalmia 2 | 10 tests |
| Isolated microphthalmia 3 | 4 tests |
| Isolated microphthalmia 4 | 5 tests |
| Isolated microphthalmia 5 | 7 tests |
| Isolated microphthalmia 6 | 6 tests |
| Isolated microphthalmia 7 | 4 tests |
| Isolated optic nerve hypoplasia | 18 tests |
| Isolated spina bifida | 4 tests |
| Isolated thyroid-stimulating hormone deficiency | 3 tests |
| Isovaleryl-CoA dehydrogenase deficiency | 12 tests |
| Jackson-Weiss syndrome | 19 tests |
| Jalili syndrome | 8 tests |
| Jaundice | 8 tests |
| Jawad syndrome | 6 tests |
| Jejunoileal ulceration | 4 tests |
| Jerk-locked premyoclonus spikes | 6 tests |
| Jerky ocular pursuit movements | 4 tests |
| Jervell and Lange-Nielsen syndrome | 16 tests |
| Jervell and Lange-Nielsen syndrome 2 | 13 tests |
| Jeune thoracic dystrophy | 6 tests |
| Johanson-Blizzard syndrome | 2 tests |
| Joint contracture of the hand | 10 tests |
| Joint dislocation | 9 tests |
| Joint hemorrhage | 7 tests |
| Joint hypermobility | 39 tests |
| Joint laxity | 22 tests |
| Joint stiffness | 2 tests |
| Joint swelling | 12 tests |
| Joubert syndrome 10 | 24 tests |
| Joubert syndrome 13 | 8 tests |
| Joubert syndrome 14 | 7 tests |
| Joubert syndrome 15 | 8 tests |
| Joubert syndrome 16 | 5 tests |
| Joubert syndrome 2 | 19 tests |
| Joubert syndrome 3 | 11 tests |
| Joubert syndrome 5 | 27 tests |
| Joubert syndrome 6 | 15 tests |
| Joubert syndrome 7 | 20 tests |
| Joubert syndrome 8 | 13 tests |
| Joubert syndrome 9 | 19 tests |
| Joubert syndrome with renal defect | 18 tests |
| Junctional epidermolysis bullosa gravis of Herlitz | 11 tests |
| Junctional epidermolysis bullosa with pyloric atresia | 8 tests |
| Junctional epidermolysis bullosa, non-Herlitz type | 16 tests |
| Juvenile cataract-microcornea-renal glucosuria syndrome | 4 tests |
| Juvenile myelomonocytic leukemia | 33 tests |
| Juvenile myoclonic epilepsy | 4 tests |
| Juvenile nephropathic cystinosis | 10 tests |
| Juvenile onset | 18 tests |
| Juvenile onset Parkinson disease 19A | 2 tests |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 18 tests |
| Juvenile primary lateral sclerosis | 7 tests |
| Juvenile retinoschisis | 8 tests |
| KBG syndrome | 6 tests |
| Kabuki syndrome 1 | 10 tests |
| Kabuki syndrome 2 | 8 tests |
| Kahrizi syndrome | 10 tests |
| Kallikrein, decreased urinary activity of | 2 tests |
| Kaposi sarcoma | 2 tests |
| Kartagener syndrome | 28 tests |
| Karyomegalic interstitial nephritis | 6 tests |
| Kennedy disease | 6 tests |
| Kenny-Caffey syndrome | 3 tests |
| Keppen-Lubinsky syndrome | 2 tests |
| Keratan sulfate excretion in urine | 8 tests |
| Keratoconjunctivitis sicca | 1 test |
| Keratoconus 1 | 4 tests |
| Keratosis follicularis | 6 tests |
| Keratosis follicularis spinulosa decalvans, X-linked | 5 tests |
| Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | 3 tests |
| Keratosis palmoplantaris striata 2 | 12 tests |
| Keratosis palmoplantaris striata 3 | 3 tests |
| Keratosis pilaris | 7 tests |
| Keutel syndrome | 3 tests |
| Kidney damage | 18 tests |
| Kindler syndrome | 3 tests |
| Kleefstra syndrome 1 | 5 tests |
| Klippel-Feil syndrome 1, autosomal dominant | 5 tests |
| Klippel-Feil syndrome 3, autosomal dominant | 4 tests |
| Knee clonus | 4 tests |
| Knee flexion contracture | 17 tests |
| Kniest dysplasia | 20 tests |
| Knobloch syndrome | 9 tests |
| Knuckle pads, deafness AND leukonychia syndrome | 13 tests |
| Koolen-de Vries syndrome | 6 tests |
| Krabbe disease due to saposin A deficiency | 12 tests |
| Kufor-Rakeb syndrome | 9 tests |
| Kuru, susceptibility to | 4 tests |
| Kyphoscoliosis | 29 tests |
| Kyphosis | 40 tests |
| L-2-hydroxyglutaric aciduria | 14 tests |
| L-ferritin deficiency | 7 tests |
| LAMB2-related infantile-onset nephrotic syndrome | 5 tests |
| LCAT deficiency | 6 tests |
| LEOPARD syndrome 1 | 13 tests |
| LEOPARD syndrome 2 | 9 tests |
| LEOPARD syndrome 3 | 16 tests |
| LIPE-related familial partial lipodystrophy | 2 tests |
| Lack of skin elasticity | 3 tests |
| Lacrimal duct atresia | 1 test |
| Lacrimation abnormality | 7 tests |
| Lactic acidosis | 35 tests |
| Lafora disease | 9 tests |
| Landau-Kleffner syndrome | 7 tests |
| Language disorder | 8 tests |
| Large congenital melanocytic nevus | 8 tests |
| Large earlobe | 2 tests |
| Large fontanelles | 6 tests |
| Large for gestational age | 1 test |
| Large forehead | 1 test |
| Large hands | 2 tests |
| Large hyperpigmented retinal spots | 2 tests |
| Laron-type isolated somatotropin defect | 6 tests |
| Larsen syndrome | 10 tests |
| Larsen-like syndrome, B3GAT3 type | 6 tests |
| Laryngeal stridor | 3 tests |
| Laryngo-onycho-cutaneous syndrome | 8 tests |
| Late-onset distal muscle weakness | 3 tests |
| Late-onset retinal degeneration | 5 tests |
| Lathosterolosis | 2 tests |
| Lattice corneal dystrophy Type I | 5 tests |
| Laurin-Sandrow syndrome | 2 tests |
| Leanness, inherited | 1 test |
| Learning disability | 1 test |
| Leber congenital amaurosis 1 | 7 tests |
| Leber congenital amaurosis 10 | 26 tests |
| Leber congenital amaurosis 11 | 6 tests |
| Leber congenital amaurosis 12 | 6 tests |
| Leber congenital amaurosis 13 | 10 tests |
| Leber congenital amaurosis 14 | 7 tests |
| Leber congenital amaurosis 15 | 6 tests |
| Leber congenital amaurosis 16 | 4 tests |
| Leber congenital amaurosis 17 | 5 tests |
| Leber congenital amaurosis 2 | 11 tests |
| Leber congenital amaurosis 3 | 6 tests |
| Leber congenital amaurosis 4 | 7 tests |
| Leber congenital amaurosis 5 | 10 tests |
| Leber congenital amaurosis 6 | 7 tests |
| Leber congenital amaurosis 7 | 7 tests |
| Leber congenital amaurosis 8 | 10 tests |
| Leber congenital amaurosis 9 | 5 tests |
| Left anterior fascicular block | 2 tests |
| Left ventricular hypertrophy | 3 tests |
| Left ventricular noncompaction | 7 tests |
| Left ventricular noncompaction 1 | 9 tests |
| Left ventricular noncompaction 10 | 9 tests |
| Left ventricular noncompaction cardiomyopathy | 6 tests |
| Left-right axis malformations | 5 tests |
| Leg muscle stiffness | 5 tests |
| Legg-Calve-Perthes disease | 21 tests |
| Legionnaire disease, susceptibility to | 2 tests |
| Legius syndrome | 10 tests |
| Leigh syndrome | 48 tests |
| Leigh syndrome due to mitochondrial complex III deficiency | 1 test |
| Lens subluxation | 7 tests |
| Leprechaunism syndrome | 12 tests |
| Leprosy, susceptibility to, 3 | 2 tests |
| Leprosy, susceptibility to, 4 | 1 test |
| Leprosy, susceptibility to, 5 | 2 tests |
| Lesch-Nyhan syndrome | 6 tests |
| Lethal Kniest-like syndrome | 6 tests |
| Lethal acantholytic epidermolysis bullosa | 12 tests |
| Lethal arthrogryposis-anterior horn cell disease syndrome | 8 tests |
| Lethal congenital contracture syndrome 1 | 8 tests |
| Lethal congenital contracture syndrome 2 | 2 tests |
| Lethal congenital contracture syndrome 3 | 2 tests |
| Lethal congenital contracture syndrome 4 | 4 tests |
| Lethal congenital glycogen storage disease of heart | 14 tests |
| Lethal multiple pterygium syndrome | 11 tests |
| Lethal occipital encephalocele-skeletal dysplasia syndrome | 3 tests |
| Lethal osteosclerotic bone dysplasia | 6 tests |
| Lethal polymalformative syndrome, Boissel type | 3 tests |
| Lethal tight skin contracture syndrome | 26 tests |
| Lethargy | 7 tests |
| Leucine-induced hypoglycemia | 19 tests |
| Leukemia | 10 tests |
| Leukemia, acute lymphoblastic, susceptibility to | 3 tests |
| Leukemia, acute lymphoblastic, susceptibility to, 3 | 2 tests |
| Leukemia, post-chemotherapy, susceptibility to | 2 tests |
| Leukocoria | 4 tests |
| Leukocyte adhesion deficiency 1 | 5 tests |
| Leukocyte adhesion deficiency 3 | 6 tests |
| Leukocyte adhesion deficiency type II | 8 tests |
| Leukodystrophy | 22 tests |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 9 tests |
| Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 10 tests |
| Leukoencephalopathy, progressive, with ovarian failure | 4 tests |
| Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 7 tests |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 6 tests |
| Leukonychia totalis | 2 tests |
| Leukopenia | 19 tests |
| Levy-Hollister syndrome | 22 tests |
| Lewy bodies | 1 test |
| Lewy body dementia | 20 tests |
| Leydig cell adenoma, somatic, with male-limited precocious puberty | 1 test |
| Leydig cell agenesis | 8 tests |
| Leydig cell hypoplasia, type II | 1 test |
| Li-Fraumeni syndrome 1 | 27 tests |
| Li-Fraumeni syndrome 2 | 15 tests |
| Lichtenstein-Knorr syndrome | 1 test |
| Liddle syndrome 1 | 8 tests |
| Limb ataxia | 14 tests |
| Limb dysmetria | 4 tests |
| Limb dystonia | 10 tests |
| Limb hypertonia | 9 tests |
| Limb muscle weakness | 2 tests |
| Limb undergrowth | 6 tests |
| Limb-girdle muscle weakness | 4 tests |
| Limb-girdle muscular dystrophy | 11 tests |
| Limb-mammary syndrome | 6 tests |
| Limitation of joint mobility | 33 tests |
| Limited elbow extension | 2 tests |
| Linear nevus sebaceous syndrome | 19 tests |
| Linear skin defects with multiple congenital anomalies 1 | 8 tests |
| Lip pit | 4 tests |
| Lipase deficiency, combined | 3 tests |
| Lipid proteinosis | 3 tests |
| Lipoatrophy | 11 tests |
| Lipodystrophy | 1 test |
| Lipoic acid synthetase deficiency | 8 tests |
| Lipoprotein glomerulopathy | 6 tests |
| Lissencephaly | 9 tests |
| Lissencephaly 4 | 7 tests |
| Lissencephaly due to LIS1 mutation | 10 tests |
| Lissencephaly due to TUBA1A mutation | 10 tests |
| Lissencephaly type 1 due to doublecortin gene mutation | 12 tests |
| Liver failure | 26 tests |
| Lobulated tongue | 9 tests |
| Loeys-Dietz syndrome 2 | 9 tests |
| Loeys-Dietz syndrome 4 | 6 tests |
| Long QT syndrome | 88 tests |
| Long QT syndrome 1 | 16 tests |
| Long QT syndrome 10 | 9 tests |
| Long QT syndrome 11 | 8 tests |
| Long QT syndrome 12 | 8 tests |
| Long QT syndrome 13 | 8 tests |
| Long QT syndrome 2 | 13 tests |
| Long QT syndrome 3 | 18 tests |
| Long QT syndrome 5 | 13 tests |
| Long QT syndrome 6 | 10 tests |
| Long QT syndrome 9 | 19 tests |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 15 tests |
| Long eyelashes | 11 tests |
| Long face | 24 tests |
| Long fingers | 2 tests |
| Long foot | 2 tests |
| Long nose | 5 tests |
| Long palm | 2 tests |
| Long palpebral fissure | 9 tests |
| Long penis | 11 tests |
| Long philtrum | 42 tests |
| Long toe | 4 tests |
| Loricrin keratoderma | 3 tests |
| Low anterior hairline | 21 tests |
| Low back pain | 3 tests |
| Low density lipoprotein cholesterol level quantitative trait locus 6 | 2 tests |
| Low hanging columella | 3 tests |
| Low phospholipid associated cholelithiasis | 5 tests |
| Low posterior hairline | 19 tests |
| Low-set ears | 67 tests |
| Low-set, posteriorly rotated ears | 63 tests |
| Lowe syndrome | 11 tests |
| Lower eyelid coloboma | 3 tests |
| Lower limb hyperreflexia | 2 tests |
| Lower limb muscle weakness | 9 tests |
| Lower limb spasticity | 3 tests |
| LuLu phenotype | 2 tests |
| Lucey-Driscoll syndrome | 18 tests |
| Lumbar hyperlordosis | 2 tests |
| Lumbar scoliosis | 3 tests |
| Lumbosacral myelomeningocele | 1 test |
| Lung adenocarcinoma | 17 tests |
| Lung carcinoma | 40 tests |
| Luteinizing hormone resistance, female | 1 test |
| Lymphadenopathy | 24 tests |
| Lymphangioma | 4 tests |
| Lymphangiomyomatosis | 20 tests |
| Lymphatic malformation 3 | 6 tests |
| Lymphedema | 23 tests |
| Lymphedema-posterior choanal atresia syndrome | 2 tests |
| Lymphoma | 29 tests |
| Lymphopenia | 16 tests |
| Lymphoproliferative disorder | 8 tests |
| Lymphoproliferative syndrome 1 | 4 tests |
| Lymphoproliferative syndrome 2 | 4 tests |
| Lynch syndrome | 6 tests |
| Lynch syndrome 1 | 23 tests |
| Lynch syndrome 4 | 23 tests |
| Lynch syndrome 5 | 22 tests |
| Lynch syndrome 8 | 21 tests |
| Lysinuric protein intolerance | 12 tests |
| Lysosomal acid lipase deficiency | 9 tests |
| MASA syndrome | 11 tests |
| MASS syndrome | 14 tests |
| MEDNIK syndrome | 4 tests |
| MEGF10-related myopathy | 5 tests |
| MGAT2-congenital disorder of glycosylation | 9 tests |
| MHC class I deficiency | 6 tests |
| MHC class II deficiency | 12 tests |
| MOGS-congenital disorder of glycosylation | 8 tests |
| MORM syndrome | 8 tests |
| MPDU1-congenital disorder of glycosylation | 7 tests |
| MPI-congenital disorder of glycosylation | 11 tests |
| MYH7-related skeletal myopathy | 14 tests |
| Macrocephaly | 61 tests |
| Macrocephaly, macrosomia, facial dysmorphism syndrome | 2 tests |
| Macrocephaly-autism syndrome | 25 tests |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 6 tests |
| Macrocytic anemia | 8 tests |
| Macrodactyly of finger | 1 test |
| Macrodontia of permanent maxillary central incisor | 1 test |
| Macroglobulinemia, Waldenstrom, 1 | 4 tests |
| Macroglossia | 11 tests |
| Macrogyria | 20 tests |
| Macronodular adrenal hyperplasia | 3 tests |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 12 tests |
| Macrothrombocytopenia, isolated, 1, autosomal dominant | 4 tests |
| Macrotia | 27 tests |
| Macular atrophy | 7 tests |
| Macular corneal dystrophy | 4 tests |
| Macular degeneration | 1 test |
| Macular degeneration, X-linked atrophic | 9 tests |
| Macular degeneration, age-related, 3 | 6 tests |
| Macular dystrophy | 3 tests |
| Madelung deformity | 3 tests |
| Majeed syndrome | 5 tests |
| Major affective disorder 7 | 2 tests |
| Major depressive disorder | 8 tests |
| Malabsorption | 26 tests |
| Malan overgrowth syndrome | 3 tests |
| Malar flattening | 59 tests |
| Malaria, mild, susceptibility to | 1 test |
| Malaria, susceptibility to | 40 tests |
| Male hypogonadism | 5 tests |
| Male infertility | 10 tests |
| Male pseudohermaphroditism | 12 tests |
| Malformation of the heart and great vessels | 38 tests |
| Malignant hyperthermia, susceptibility to, 1 | 4 tests |
| Malignant hyperthermia, susceptibility to, 5 | 10 tests |
| Malignant melanoma of skin | 6 tests |
| Malignant tumor of esophagus | 11 tests |
| Malignant tumor of prostate | 311 tests |
| Malignant tumor of testis | 38 tests |
| Malignant tumor of thyroid gland | 9 tests |
| Malignant tumor of urinary bladder | 38 tests |
| Malnutrition | 1 test |
| Mandibular condyle aplasia | 2 tests |
| Mandibular condyle hypoplasia | 2 tests |
| Mandibular hypoplasia-deafness-progeroid syndrome | 8 tests |
| Mandibular prognathia | 14 tests |
| Mandibuloacral dysplasia with type A lipodystrophy | 24 tests |
| Mandibuloacral dysplasia with type B lipodystrophy | 7 tests |
| Mandibulofacial dysostosis-microcephaly syndrome | 6 tests |
| Mannose-binding lectin deficiency | 4 tests |
| Mantle cell lymphoma | 1 test |
| Maple syrup urine disease | 16 tests |
| Marden-Walker syndrome | 4 tests |
| Marfan syndrome | 14 tests |
| Marinesco-Sjögren syndrome | 9 tests |
| Marked Hypotonia | 1 test |
| Marshall syndrome | 10 tests |
| Marshall-Smith syndrome | 3 tests |
| Martsolf syndrome | 7 tests |
| Mask-like facies | 2 tests |
| Mast syndrome | 3 tests |
| Mastocytosis | 6 tests |
| Maternal riboflavin deficiency | 2 tests |
| Matthew-Wood syndrome | 5 tests |
| Maturity onset diabetes mellitus in young | 5 tests |
| Maturity-onset diabetes of the young type 1 | 9 tests |
| Maturity-onset diabetes of the young type 10 | 6 tests |
| Maturity-onset diabetes of the young type 11 | 4 tests |
| Maturity-onset diabetes of the young type 2 | 10 tests |
| Maturity-onset diabetes of the young type 3 | 7 tests |
| Maturity-onset diabetes of the young type 4 | 8 tests |
| Maturity-onset diabetes of the young type 6 | 8 tests |
| Maturity-onset diabetes of the young type 8 | 5 tests |
| Maturity-onset diabetes of the young type 9 | 4 tests |
| McCune-Albright syndrome | 11 tests |
| McKusick-Kaufman syndrome | 12 tests |
| McLeod neuroacanthocytosis syndrome | 4 tests |
| Meacham syndrome | 11 tests |
| Meckel diverticulum | 1 test |
| Meckel syndrome, type 1 | 18 tests |
| Meckel syndrome, type 10 | 6 tests |
| Meckel syndrome, type 2 | 19 tests |
| Meckel syndrome, type 3 | 15 tests |
| Meckel syndrome, type 4 | 26 tests |
| Meckel syndrome, type 5 | 20 tests |
| Meckel syndrome, type 6 | 19 tests |
| Meckel syndrome, type 8 | 9 tests |
| Meckel syndrome, type 9 | 9 tests |
| Meckel-Gruber syndrome | 3 tests |
| Meconium ileus | 3 tests |
| Medial flaring of the eyebrow | 7 tests |
| Median cleft upper lip | 10 tests |
| Mediastinal lymphadenopathy | 6 tests |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 18 tests |
| Medulloblastoma | 28 tests |
| Megacolon | 20 tests |
| Megaconial type congenital muscular dystrophy | 7 tests |
| Megacystis | 1 test |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 15 tests |
| Megalencephalic leukoencephalopathy with subcortical cysts 2A | 7 tests |
| Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability | 7 tests |
| Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability | 1 test |
| Megalencephaly, autosomal dominant | 5 tests |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 7 tests |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 9 tests |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 11 tests |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 8 tests |
| Megalocornea | 2 tests |
| Meier-Gorlin syndrome | 6 tests |
| Meier-Gorlin syndrome 2 | 5 tests |
| Meier-Gorlin syndrome 3 | 5 tests |
| Meier-Gorlin syndrome 4 | 5 tests |
| Meier-Gorlin syndrome 5 | 5 tests |
| Melanocytic nevus | 18 tests |
| Melanoma | 24 tests |
| Melanoma and neural system tumor syndrome | 5 tests |
| Melanoma, cutaneous malignant, susceptibility to, 1 | 25 tests |
| Melanoma, cutaneous malignant, susceptibility to, 2 | 5 tests |
| Melanoma, cutaneous malignant, susceptibility to, 3 | 5 tests |
| Melanoma, cutaneous malignant, susceptibility to, 5 | 5 tests |
| Melanoma, cutaneous malignant, susceptibility to, 6 | 2 tests |
| Melanoma, cutaneous malignant, susceptibility to, 8 | 12 tests |
| Melanoma, cutaneous malignant, susceptibility to, 9 | 10 tests |
| Melanoma-pancreatic cancer syndrome | 5 tests |
| Melioidosis, susceptibility to | 2 tests |
| Melnick-Needles syndrome | 24 tests |
| Melorheostosis | 4 tests |
| Membranous nephropathy | 4 tests |
| Memory impairment | 8 tests |
| Memory quantitative trait locus | 2 tests |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency | 2 tests |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | 4 tests |
| Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | 4 tests |
| Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 4 tests |
| Meningioma | 11 tests |
| Meningocele | 12 tests |
| Menkes kinky-hair syndrome | 11 tests |
| Menorrhagia | 1 test |
| Menstrual cycle-dependent periodic fever | 4 tests |
| Mental deterioration | 16 tests |
| Merosin deficient congenital muscular dystrophy | 18 tests |
| Mesangiocapillary glomerulonephritis | 6 tests |
| Mesomelia | 4 tests |
| Mesothelioma, malignant | 13 tests |
| Metabolic acidosis | 11 tests |
| Metabolic alkalosis | 3 tests |
| Metabolic myopathy due to lactate transporter defect | 7 tests |
| Metabolic syndrome X | 13 tests |
| Metachondromatosis | 13 tests |
| Metachromatic leukodystrophy | 13 tests |
| Metaphyseal anadysplasia 2 | 4 tests |
| Metaphyseal chondrodysplasia, Jansen type | 5 tests |
| Metaphyseal chondrodysplasia, McKusick type | 16 tests |
| Metaphyseal chondrodysplasia, Schmid type | 4 tests |
| Metaphyseal cupping | 4 tests |
| Metaphyseal cupping of metacarpals | 2 tests |
| Metaphyseal cupping of proximal phalanges | 2 tests |
| Metaphyseal dysplasia without hypotrichosis | 16 tests |
| Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | 5 tests |
| Metaphyseal irregularity | 2 tests |
| Metaphyseal widening | 2 tests |
| Metatarsus adductus | 7 tests |
| Metatropic dysplasia | 11 tests |
| Methemoglobinemia type 4 | 3 tests |
| Methylcobalamin deficiency type cblE | 9 tests |
| Methylcobalamin deficiency type cblG | 6 tests |
| Methylmalonate semialdehyde dehydrogenase deficiency | 5 tests |
| Methylmalonic acidemia | 7 tests |
| Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | 6 tests |
| Methylmalonic acidemia due to transcobalamin receptor defect | 5 tests |
| Methylmalonic acidemia with homocystinuria, type cblJ | 4 tests |
| Methylmalonic aciduria | 7 tests |
| Methylmalonic aciduria and homocystinuria type cblD | 13 tests |
| Methylmalonic aciduria and homocystinuria type cblF | 9 tests |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 14 tests |
| Methylmalonic aciduria, cblA type | 12 tests |
| Methylmalonic aciduria, cblB type | 12 tests |
| Mevalonic aciduria | 7 tests |
| Microcephalic osteodysplastic primordial dwarfism type II | 8 tests |
| Microcephalic primordial dwarfism due to RTTN deficiency | 5 tests |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 3 tests |
| Microcephalic primordial dwarfism, Alazami type | 1 test |
| Microcephaly 1, primary, autosomal recessive | 5 tests |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 5 tests |
| Microcephaly 3, primary, autosomal recessive | 3 tests |
| Microcephaly 5, primary, autosomal recessive | 8 tests |
| Microcephaly 6, primary, autosomal recessive | 9 tests |
| Microcephaly 7, primary, autosomal recessive | 4 tests |
| Microcephaly 8, primary, autosomal recessive | 3 tests |
| Microcephaly 9, primary, autosomal recessive | 5 tests |
| Microcephaly and chorioretinopathy 1 | 5 tests |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 5 tests |
| Microcephaly, epilepsy, and diabetes syndrome | 5 tests |
| Microcephaly, normal intelligence and immunodeficiency | 26 tests |
| Microcephaly, seizures, and developmental delay | 9 tests |
| Microcephaly-capillary malformation syndrome | 4 tests |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 4 tests |
| Microcephaly-thin corpus callosum-intellectual disability syndrome | 2 tests |
| Microcolon | 1 test |
| Microcornea | 22 tests |
| Microcornea-myopic chorioretinal atrophy | 4 tests |
| Microcytic anemia | 5 tests |
| Microcytic anemia with liver iron overload | 3 tests |
| Microdontia | 8 tests |
| Micrognathia | 101 tests |
| Micromelia | 19 tests |
| Micronodular cirrhosis | 4 tests |
| Micropenis | 34 tests |
| Microphthalmia | 35 tests |
| Microphthalmia with brain and digit anomalies | 7 tests |
| Microphthalmia with limb anomalies | 5 tests |
| Microphthalmia, isolated, with coloboma 3 | 10 tests |
| Microphthalmia, isolated, with coloboma 5 | 8 tests |
| Microphthalmia, isolated, with coloboma 6 | 6 tests |
| Microphthalmia, isolated, with coloboma 7 | 5 tests |
| Microphthalmia, syndromic 1 | 12 tests |
| Microphthalmia, syndromic 11 | 4 tests |
| Microretrognathia | 6 tests |
| Microspherophakia | 6 tests |
| Microtia | 13 tests |
| Microvascular complications of diabetes, susceptibility to, 1 | 3 tests |
| Microvascular complications of diabetes, susceptibility to, 2 | 2 tests |
| Microvascular complications of diabetes, susceptibility to, 3 | 5 tests |
| Microvascular complications of diabetes, susceptibility to, 4 | 4 tests |
| Microvascular complications of diabetes, susceptibility to, 5 | 2 tests |
| Microvascular complications of diabetes, susceptibility to, 6 | 4 tests |
| Microvascular complications of diabetes, susceptibility to, 7 | 8 tests |
| Microvesicular hepatic steatosis | 4 tests |
| Midface capillary hemangioma | 9 tests |
| Midface retrusion | 27 tests |
| Midline defect of the nose | 1 test |
| Midline facial cleft | 3 tests |
| Migraine | 18 tests |
| Migraine, familial hemiplegic, 1 | 17 tests |
| Migraine, familial hemiplegic, 2 | 9 tests |
| Migraine, familial hemiplegic, 3 | 14 tests |
| Migraine, with or without aura, susceptibility to, 13 | 2 tests |
| Mild Canavan disease | 1 test |
| Mild short stature | 5 tests |
| Mildly elevated creatine kinase | 4 tests |
| Miller syndrome | 4 tests |
| Minimally invasive lung adenocarcinoma | 4 tests |
| Mirror movements 1 | 2 tests |
| Mirror movements 2 | 2 tests |
| Miscarriage | 8 tests |
| Mismatch repair cancer syndrome 1 | 13 tests |
| Mitochondrial DNA depletion syndrome 1 | 31 tests |
| Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive | 9 tests |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 9 tests |
| Mitochondrial DNA depletion syndrome 4b | 29 tests |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 12 tests |
| Mitochondrial DNA depletion syndrome 8a | 14 tests |
| Mitochondrial DNA depletion syndrome 9 | 12 tests |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 11 tests |
| Mitochondrial DNA depletion syndrome, myopathic form | 11 tests |
| Mitochondrial complex I deficiency | 40 tests |
| Mitochondrial complex II deficiency, nuclear type 1 | 18 tests |
| Mitochondrial complex III deficiency nuclear type 1 | 22 tests |
| Mitochondrial complex III deficiency nuclear type 2 | 6 tests |
| Mitochondrial complex III deficiency nuclear type 3 | 7 tests |
| Mitochondrial complex III deficiency nuclear type 4 | 6 tests |
| Mitochondrial complex IV deficiency, nuclear type 1 | 17 tests |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 13 tests |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 7 tests |
| Mitochondrial encephalomyopathy | 10 tests |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 7 tests |
| Mitochondrial myopathy-lactic acidosis-deafness syndrome | 1 test |
| Mitochondrial pyruvate carrier deficiency | 4 tests |
| Mitochondrial respiratory chain defects | 9 tests |
| Mitochondrial trifunctional protein deficiency | 16 tests |
| Mitral regurgitation | 7 tests |
| Mitral stenosis | 7 tests |
| Mitral valve prolapse | 6 tests |
| Miyoshi muscular dystrophy 1 | 11 tests |
| Miyoshi muscular dystrophy 3 | 10 tests |
| Moderate sensorineural hearing impairment | 1 test |
| Moderately reduced visual acuity | 3 tests |
| Molar tooth sign on MRI | 13 tests |
| Monocytopenia with susceptibility to infections | 8 tests |
| Monocytosis | 8 tests |
| Morbid obesity | 1 test |
| Mosaic variegated aneuploidy syndrome 1 | 8 tests |
| Mosaic variegated aneuploidy syndrome 2 | 3 tests |
| Motor axonal neuropathy | 4 tests |
| Motor delay | 54 tests |
| Movement disorder | 9 tests |
| Mowat-Wilson syndrome | 11 tests |
| Moyamoya disease | 1 test |
| Moyamoya disease 2 | 3 tests |
| Moyamoya disease 5 | 7 tests |
| Mucolipidosis type II | 10 tests |
| Mucolipidosis type IV | 14 tests |
| Mucopolysaccharidosis | 9 tests |
| Mucopolysaccharidosis type 6 | 13 tests |
| Mucopolysaccharidosis type 7 | 10 tests |
| Mucopolysaccharidosis, MPS-I-H/S | 13 tests |
| Mucopolysaccharidosis, MPS-I-S | 13 tests |
| Mucopolysaccharidosis, MPS-II | 12 tests |
| Mucopolysaccharidosis, MPS-III-A | 11 tests |
| Mucopolysaccharidosis, MPS-III-B | 12 tests |
| Mucopolysaccharidosis, MPS-III-C | 15 tests |
| Mucopolysaccharidosis, MPS-III-D | 12 tests |
| Mucopolysaccharidosis, MPS-IV-A | 10 tests |
| Mucopolysaccharidosis, MPS-IV-B | 15 tests |
| Mucosal telangiectasiae | 5 tests |
| Muenke syndrome | 17 tests |
| Muir-Torré syndrome | 23 tests |
| Mulibrey nanism syndrome | 2 tests |
| Mullerian aplasia and hyperandrogenism | 7 tests |
| Multicentric carpo-tarsal osteolysis with or without nephropathy | 5 tests |
| Multicentric osteolysis nodulosis arthropathy spectrum | 5 tests |
| Multicystic kidney dysplasia | 23 tests |
| Multiple Epiphyseal Dysplasia, Dominant | 4 tests |
| Multiple acyl-CoA dehydrogenase deficiency | 21 tests |
| Multiple congenital anomalies | 61 tests |
| Multiple congenital anomalies-hypotonia-seizures syndrome | 1 test |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2 tests |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 7 tests |
| Multiple congenital exostosis | 7 tests |
| Multiple cutaneous and mucosal venous malformations | 3 tests |
| Multiple endocrine neoplasia | 1 test |
| Multiple endocrine neoplasia type 2A | 13 tests |
| Multiple endocrine neoplasia type 2B | 13 tests |
| Multiple endocrine neoplasia type 4 | 4 tests |
| Multiple endocrine neoplasia, type 1 | 9 tests |
| Multiple epiphyseal dysplasia type 1 | 5 tests |
| Multiple epiphyseal dysplasia type 4 | 10 tests |
| Multiple epiphyseal dysplasia type 5 | 4 tests |
| Multiple epiphyseal dysplasia, Beighton type | 20 tests |
| Multiple fibroadenoma of the breast | 2 tests |
| Multiple gastrointestinal atresias | 6 tests |
| Multiple joint contractures | 3 tests |
| Multiple lipomas | 4 tests |
| Multiple mitochondrial dysfunctions syndrome 1 | 4 tests |
| Multiple mitochondrial dysfunctions syndrome 2 | 7 tests |
| Multiple myeloma | 10 tests |
| Multiple prenatal fractures | 8 tests |
| Multiple sclerosis modifier of disease progression | 2 tests |
| Multiple sclerosis, susceptibility to, 5 | 5 tests |
| Multiple self-healing squamous epithelioma | 8 tests |
| Multiple skeletal anomalies | 3 tests |
| Multiple sulfatase deficiency | 16 tests |
| Multiple synostoses syndrome 2 | 4 tests |
| Multiple synostoses syndrome 3 | 2 tests |
| Multiple system atrophy | 14 tests |
| Multisystemic smooth muscle dysfunction syndrome | 8 tests |
| Muscle AMP deaminase deficiency | 6 tests |
| Muscle eye brain disease | 21 tests |
| Muscle fiber atrophy | 3 tests |
| Muscle fiber inclusion bodies | 2 tests |
| Muscle spasm | 13 tests |
| Muscle stiffness | 7 tests |
| Muscle weakness | 66 tests |
| Muscular atrophy | 58 tests |
| Muscular dystrophy | 15 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 28 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 11 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 15 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 23 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 6 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 17 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 15 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 21 tests |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 28 tests |
| Muscular dystrophy-dystroglycanopathy type B5 | 23 tests |
| Mutilating keratoderma | 13 tests |
| Mutism | 6 tests |
| Myalgia | 14 tests |
| Myasthenic syndrome, congenital, 1B, fast-channel | 11 tests |
| Myasthenic syndrome, slow-channel congenital | 12 tests |
| Mycobacterium tuberculosis, susceptibility to | 16 tests |
| Myelodysplasia | 9 tests |
| Myelodysplastic syndrome | 11 tests |
| Myeloperoxidase deficiency | 4 tests |
| Myeloproliferative disorder | 2 tests |
| Myeloproliferative disorder, chronic, with eosinophilia | 2 tests |
| Myhre syndrome | 18 tests |
| Myocardial infarction | 5 tests |
| Myocardial infarction, susceptibility to, 1 | 21 tests |
| Myoclonic dystonia 11 | 6 tests |
| Myoclonus | 25 tests |
| Myoclonus, familial, 1 | 4 tests |
| Myofibrillar myopathy | 5 tests |
| Myofibrillar myopathy 3 | 9 tests |
| Myofibrillar myopathy 4 | 17 tests |
| Myofibrillar myopathy 5 | 13 tests |
| Myofibrillar myopathy 6 | 9 tests |
| Myofibromatosis, infantile, 2 | 13 tests |
| Myoglobinuria, acute recurrent, autosomal recessive | 5 tests |
| Myokymia | 6 tests |
| Myopathic facies | 8 tests |
| Myopathy | 38 tests |
| Myopathy, centronuclear, 2 | 6 tests |
| Myopathy, lactic acidosis, and sideroblastic anemia 1 | 10 tests |
| Myopathy, lactic acidosis, and sideroblastic anemia 2 | 6 tests |
| Myopathy, myofibrillar, 9, with early respiratory failure | 19 tests |
| Myopathy, proximal, and ophthalmoplegia | 6 tests |
| Myopathy, reducing body, X-linked, childhood-onset | 11 tests |
| Myopathy, reducing body, X-linked, early-onset, severe | 11 tests |
| Myopathy, tubular aggregate, 1 | 8 tests |
| Myopathy, tubular aggregate, 2 | 5 tests |
| Myopia | 51 tests |
| Myopia 21, autosomal dominant | 2 tests |
| Myopia 23, autosomal recessive | 1 test |
| Myopia 6 | 10 tests |
| Myosclerosis | 7 tests |
| Myosin storage myopathy | 14 tests |
| Myositis disease | 3 tests |
| Myostatin-related muscle hypertrophy | 4 tests |
| Myotonia | 7 tests |
| Myotonic dystrophy type 2 | 3 tests |
| Myxoid liposarcoma | 1 test |
| NDE1-related microhydranencephaly | 7 tests |
| NPHP3-related Meckel-like syndrome | 14 tests |
| Naegeli-Franceschetti-Jadassohn syndrome | 3 tests |
| Nager syndrome | 3 tests |
| Nail dysplasia | 4 tests |
| Nail dystrophy | 15 tests |
| Nail-patella syndrome | 8 tests |
| Namaqualand hip dysplasia | 20 tests |
| Nance-Horan syndrome | 8 tests |
| Nanophthalmos 2 | 7 tests |
| Narcolepsy 1 | 2 tests |
| Narcolepsy 7 | 1 test |
| Narrow chest | 20 tests |
| Narrow face | 24 tests |
| Narrow forehead | 37 tests |
| Narrow greater sciatic notch | 2 tests |
| Narrow iliac wing | 1 test |
| Narrow mouth | 19 tests |
| Narrow naris | 9 tests |
| Narrow nasal ridge | 14 tests |
| Narrow nose | 2 tests |
| Narrow palate | 4 tests |
| Narrow palm | 2 tests |
| Nasal polyposis | 11 tests |
| Natal tooth | 2 tests |
| Nausea | 5 tests |
| Nausea and vomiting | 21 tests |
| Naxos disease | 9 tests |
| Neck muscle weakness | 8 tests |
| Nemaline bodies | 5 tests |
| Nemaline myopathy | 7 tests |
| Nemaline myopathy 2 | 13 tests |
| Nemaline myopathy 5 | 6 tests |
| Nemaline myopathy 6 | 5 tests |
| Nemaline myopathy 7 | 6 tests |
| Neonatal breathing dysregulation | 8 tests |
| Neonatal death | 1 test |
| Neonatal diabetes mellitus with congenital hypothyroidism | 4 tests |
| Neonatal hypotonia | 17 tests |
| Neonatal ichthyosis-sclerosing cholangitis syndrome | 4 tests |
| Neonatal intrahepatic cholestasis due to citrin deficiency | 11 tests |
| Neonatal respiratory distress | 6 tests |
| Neonatal sepsis | 6 tests |
| Neonatal severe primary hyperparathyroidism | 14 tests |
| Neonatal-onset encephalopathy with rigidity and seizures | 4 tests |
| Neoplasm | 17 tests |
| Neoplasm of esophagus | 9 tests |
| Neoplasm of lung | 4 tests |
| Neoplasm of stomach | 57 tests |
| Neoplasm of the anterior pituitary | 2 tests |
| Neoplasm of the endocrine system | 1 test |
| Neoplasm of the gastrointestinal tract | 2 tests |
| Neoplasm of the nervous system | 7 tests |
| Neoplasm of the pancreas | 25 tests |
| Neoplasm of the skeletal system | 2 tests |
| Neoplasm of the skin | 6 tests |
| Neoplasm of the small intestine | 3 tests |
| Neoplasm of uterus | 4 tests |
| Nephroblastoma | 44 tests |
| Nephrocalcinosis | 17 tests |
| Nephrogenic syndrome of inappropriate antidiuresis | 3 tests |
| Nephrolithiasis | 8 tests |
| Nephrolithiasis, uric acid, susceptibility to | 2 tests |
| Nephronophthisis | 19 tests |
| Nephronophthisis 1 | 18 tests |
| Nephronophthisis 11 | 15 tests |
| Nephronophthisis 12 | 12 tests |
| Nephronophthisis 3 | 14 tests |
| Nephronophthisis 4 | 10 tests |
| Nephronophthisis 7 | 5 tests |
| Nephronophthisis 9 | 7 tests |
| Nephronophthisis-like nephropathy 1 | 5 tests |
| Nephropathic cystinosis | 11 tests |
| Nephrotic syndrome | 28 tests |
| Nephrotic syndrome, type 2 | 11 tests |
| Nephrotic syndrome, type 3 | 4 tests |
| Nephrotic syndrome, type 4 | 17 tests |
| Nephrotic syndrome, type 6 | 3 tests |
| Nestor-Guillermo progeria syndrome | 2 tests |
| Netherton syndrome | 7 tests |
| Neu-Laxova syndrome | 14 tests |
| Neural tube defect | 9 tests |
| Neural tube defects, folate-sensitive | 18 tests |
| Neuroblastoma | 8 tests |
| Neuroblastoma, susceptibility to, 2 | 6 tests |
| Neuroblastoma, susceptibility to, 3 | 4 tests |
| Neurocirculatory asthenia | 3 tests |
| Neurocutaneous melanocytosis | 8 tests |
| Neurodegeneration | 9 tests |
| Neurodegeneration with brain iron accumulation 2B | 13 tests |
| Neurodegeneration with brain iron accumulation 4 | 7 tests |
| Neurodegeneration with brain iron accumulation 5 | 7 tests |
| Neurodegeration | 2 tests |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 5 tests |
| Neuroferritinopathy | 7 tests |
| Neurofibromatosis, familial spinal | 23 tests |
| Neurofibromatosis, type 1 | 23 tests |
| Neurofibromatosis, type 2 | 9 tests |
| Neurofibromatosis-Noonan syndrome | 23 tests |
| Neurogenic bladder | 1 test |
| Neurogenic scapuloperoneal syndrome, Kaeser type | 15 tests |
| Neurohypophyseal diabetes insipidus | 3 tests |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 2 tests |
| Neuronal ceroid lipofuscinosis | 9 tests |
| Neuronal ceroid lipofuscinosis 1 | 19 tests |
| Neuronal ceroid lipofuscinosis 10 | 11 tests |
| Neuronal ceroid lipofuscinosis 11 | 12 tests |
| Neuronal ceroid lipofuscinosis 2 | 19 tests |
| Neuronal ceroid lipofuscinosis 3 | 19 tests |
| Neuronal ceroid lipofuscinosis 5 | 18 tests |
| Neuronal ceroid lipofuscinosis 7 | 17 tests |
| Neuronal ceroid lipofuscinosis 8 | 17 tests |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 17 tests |
| Neuronal loss in central nervous system | 11 tests |
| Neuronopathy, distal hereditary motor, autosomal dominant 8 | 11 tests |
| Neuronopathy, distal hereditary motor, autosomal recessive 4 | 6 tests |
| Neuronopathy, distal hereditary motor, autosomal recessive 5 | 5 tests |
| Neuronopathy, distal hereditary motor, type 2A | 7 tests |
| Neuronopathy, distal hereditary motor, type 2B | 7 tests |
| Neuronopathy, distal hereditary motor, type 2C | 3 tests |
| Neuronopathy, distal hereditary motor, type 5A | 19 tests |
| Neuronopathy, distal hereditary motor, type 5B | 9 tests |
| Neuronopathy, distal hereditary motor, type 7A | 5 tests |
| Neuronopathy, distal hereditary motor, type 7B | 7 tests |
| Neuropathic spinal arthropathy | 5 tests |
| Neuropathy, hereditary sensory and autonomic, type 1C | 6 tests |
| Neuropathy, hereditary sensory and autonomic, type 2A | 6 tests |
| Neuropathy, hereditary sensory, type 1D | 10 tests |
| Neuropathy, hereditary sensory, type 2C | 8 tests |
| Neutral 1 amino acid transport defect | 4 tests |
| Neutral lipid storage myopathy | 8 tests |
| Neutropenia | 38 tests |
| Neutropenia, severe congenital, 1, autosomal dominant | 6 tests |
| Neutropenia, severe congenital, 2, autosomal dominant | 5 tests |
| Neutrophil immunodeficiency syndrome | 7 tests |
| Nevus sebaceous | 8 tests |
| Newfoundland cone-rod dystrophy | 8 tests |
| Nicolaides-Baraitser syndrome | 9 tests |
| Niemann-Pick disease, type A | 14 tests |
| Niemann-Pick disease, type B | 14 tests |
| Niemann-Pick disease, type C1 | 14 tests |
| Niemann-Pick disease, type C2 | 14 tests |
| Night blindness | 18 tests |
| Nijmegen breakage syndrome-like disorder | 9 tests |
| Non-Hodgkin lymphoma | 7 tests |
| Non-acquired combined pituitary hormone deficiency with spine abnormalities | 13 tests |
| Non-immune hydrops fetalis | 11 tests |
| Non-ketotic hyperglycinemia | 17 tests |
| Non-midline cleft of the upper lip | 12 tests |
| Non-small cell lung carcinoma | 19 tests |
| Non-syndromic X-linked intellectual disability | 4 tests |
| Nonarteritic anterior ischemic optic neuropathy, susceptibility to | 12 tests |
| Nonimmune chronic idiopathic neutropenia of adults | 5 tests |
| Nonpapillary renal cell carcinoma | 34 tests |
| Nonpersistence of intestinal lactase | 2 tests |
| Nonprogressive cerebellar ataxia | 6 tests |
| Nonprogressive encephalopathy | 3 tests |
| Nonsyndromic Deafness | 5 tests |
| Nonsyndromic congenital nail disorder 1 | 3 tests |
| Nonsyndromic congenital nail disorder 8 | 7 tests |
| Nonsyndromic otitis media | 6 tests |
| Noonan syndrome | 11 tests |
| Noonan syndrome 1 | 13 tests |
| Noonan syndrome 3 | 13 tests |
| Noonan syndrome 4 | 10 tests |
| Noonan syndrome 5 | 9 tests |
| Noonan syndrome 7 | 16 tests |
| Noonan syndrome-like disorder with loose anagen hair 1 | 10 tests |
| Noonan-like facies | 2 tests |
| Norman-Roberts syndrome | 10 tests |
| Normocytic anemia | 2 tests |
| Normophosphatemic familial tumoral calcinosis | 3 tests |
| Novelty seeking personality trait | 4 tests |
| Numerous congenital melanocytic nevi | 8 tests |
| Numerous nevi | 8 tests |
| Nystagmus | 120 tests |
| Nystagmus 1, congenital, X-linked | 4 tests |
| Nystagmus 6, congenital, X-linked | 5 tests |
| OBESITY (BMIQ9), SUSCEPTIBILITY TO | 2 tests |
| Obesity | 71 tests |
| Obesity due to congenital leptin deficiency | 4 tests |
| Obesity due to leptin receptor gene deficiency | 4 tests |
| Obesity due to pro-opiomelanocortin deficiency | 5 tests |
| Obesity due to prohormone convertase I deficiency | 3 tests |
| Obesity, hyperphagia, and developmental delay | 3 tests |
| Obsessive-compulsive disorder | 11 tests |
| Obstructive sleep apnea syndrome | 6 tests |
| Occipital myelomeningocele | 8 tests |
| Occipital pachygyria and polymicrogyria | 6 tests |
| Occult macular dystrophy | 5 tests |
| Ocular albinism | 3 tests |
| Ocular albinism with congenital sensorineural hearing loss | 13 tests |
| Ocular albinism, type I | 5 tests |
| Ocular cystinosis | 10 tests |
| Oculoauricular syndrome | 5 tests |
| Oculocerebrofacial syndrome, Kaufman type | 2 tests |
| Oculocutaneous albinism type 1B | 7 tests |
| Oculocutaneous albinism type 3 | 3 tests |
| Oculocutaneous albinism type 4 | 5 tests |
| Oculodentodigital dysplasia | 10 tests |
| Oculodentodigital dysplasia, autosomal recessive | 10 tests |
| Oculofaciocardiodental syndrome | 11 tests |
| Oculomaxillofacial dysostosis | 3 tests |
| Oculomotor apraxia | 15 tests |
| Oculootoradial syndrome | 6 tests |
| Oculopharyngeal muscular dystrophy | 5 tests |
| Oculotrichoanal syndrome | 8 tests |
| Odonto-onycho-dermal dysplasia | 6 tests |
| Odontoid hypoplasia | 2 tests |
| Ogden syndrome | 6 tests |
| Oguchi disease | 6 tests |
| Oguchi disease-2 | 5 tests |
| Okt4 epitope deficiency | 2 tests |
| Oligodontia | 1 test |
| Oligodontia-cancer predisposition syndrome | 6 tests |
| Oligohydramnios | 19 tests |
| Oligomenorrhea | 1 test |
| Oligospermia | 3 tests |
| Olivopontocerebellar hypoplasia | 1 test |
| Olmsted syndrome 1 | 3 tests |
| Olmsted syndrome, X-linked | 4 tests |
| Onion bulb formation | 8 tests |
| Onychomycosis | 2 tests |
| Opacification of the corneal stroma | 33 tests |
| Open mouth | 22 tests |
| Ophthalmoparesis | 21 tests |
| Ophthalmoplegia | 20 tests |
| Opisthotonus | 3 tests |
| Opsismodysplasia | 1 test |
| Optic atrophy | 82 tests |
| Optic atrophy 3 | 18 tests |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 14 tests |
| Optic disc drusen | 1 test |
| Optic disc pallor | 20 tests |
| Optic nerve dysplasia | 4 tests |
| Optic nerve hypoplasia | 7 tests |
| Optic papillitis | 3 tests |
| Orbital craniosynostosis | 3 tests |
| Ornithine aminotransferase deficiency | 12 tests |
| Ornithine carbamoyltransferase deficiency | 12 tests |
| Orofacial cleft | 24 tests |
| Orofacial cleft 10 | 1 test |
| Orofacial cleft 11 | 7 tests |
| Orofacial cleft 5 | 3 tests |
| Orofacial cleft 6, susceptibility to | 6 tests |
| Orofacial dyskinesia | 2 tests |
| Orofacial-digital syndrome IV | 7 tests |
| Orofaciodigital syndrome | 2 tests |
| Orofaciodigital syndrome I | 24 tests |
| Orofaciodigital syndrome type 14 | 1 test |
| Oromandibular dystonia | 6 tests |
| Oroticaciduria | 2 tests |
| Orthokeratosis | 3 tests |
| Orthostatic hypotension 1 | 4 tests |
| Osteoarthritis | 10 tests |
| Osteoarthritis of distal interphalangeal joint | 4 tests |
| Osteoarthritis susceptibility 3 | 2 tests |
| Osteoarthritis, hip | 4 tests |
| Osteochondritis dissecans | 4 tests |
| Osteocraniostenosis | 3 tests |
| Osteodysplastic primordial dwarfism, type 1 | 4 tests |
| Osteogenesis imperfecta | 10 tests |
| Osteogenesis imperfecta type 10 | 6 tests |
| Osteogenesis imperfecta type 11 | 7 tests |
| Osteogenesis imperfecta type 12 | 6 tests |
| Osteogenesis imperfecta type 13 | 6 tests |
| Osteogenesis imperfecta type 5 | 6 tests |
| Osteogenesis imperfecta type 6 | 6 tests |
| Osteogenesis imperfecta type 7 | 8 tests |
| Osteogenesis imperfecta type 9 | 6 tests |
| Osteogenesis imperfecta type I | 9 tests |
| Osteogenesis imperfecta type III | 10 tests |
| Osteogenesis imperfecta with normal sclerae, dominant form | 10 tests |
| Osteogenesis imperfecta, perinatal lethal | 10 tests |
| Osteoglophonic dysplasia | 15 tests |
| Osteolysis | 8 tests |
| Osteolysis involving bones of the feet | 3 tests |
| Osteolysis involving bones of the upper limbs | 3 tests |
| Osteomyelitis | 1 test |
| Osteomyelitis leading to amputation due to slow healing fractures | 2 tests |
| Osteopathia striata with cranial sclerosis | 3 tests |
| Osteopenia | 35 tests |
| Osteopetrosis with renal tubular acidosis | 5 tests |
| Osteoporosis with pseudoglioma | 10 tests |
| Otitis media | 15 tests |
| Oto-palato-digital syndrome, type I | 24 tests |
| Oto-palato-digital syndrome, type II | 24 tests |
| Otofaciocervical syndrome 1 | 10 tests |
| Otofaciocervical syndrome 2 | 2 tests |
| Otospondylomegaepiphyseal dysplasia, autosomal dominant | 13 tests |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 24 tests |
| Ovarian dysgenesis 1 | 5 tests |
| Ovarian dysgenesis 2 | 4 tests |
| Ovarian dysgenesis 3 | 2 tests |
| Ovarian hyperstimulation syndrome | 5 tests |
| Ovarian neoplasm | 38 tests |
| Overfolded helix | 5 tests |
| Overfolding of the superior helices | 2 tests |
| Overgrowth | 10 tests |
| Overlapping fingers | 5 tests |
| Overlapping toe | 1 test |
| Overriding aorta | 2 tests |
| Ovoid vertebral bodies | 4 tests |
| Oxycephaly | 4 tests |
| PCWH syndrome | 10 tests |
| PDA1 | 32 tests |
| PGM1-congenital disorder of glycosylation | 8 tests |
| PHARC syndrome | 13 tests |
| PHGDH deficiency | 14 tests |
| PLIN1-related familial partial lipodystrophy | 3 tests |
| PMM2-congenital disorder of glycosylation | 24 tests |
| PPARG-related familial partial lipodystrophy | 6 tests |
| PSAT deficiency | 1 test |
| PTEN hamartoma tumor syndrome | 1 test |
| PULMONARY ALVEOLAR MICROLITHIASIS | 3 tests |
| PYCR1-related de Barsy syndrome | 7 tests |
| Pachyonychia congenita 1 | 3 tests |
| Pachyonychia congenita 2 | 4 tests |
| Pachyonychia congenita 3 | 2 tests |
| Pachyonychia congenita 4 | 2 tests |
| Pain insensitivity | 2 tests |
| Pallister-Hall syndrome | 13 tests |
| Pallor | 7 tests |
| Palmoplantar hyperhidrosis | 1 test |
| Palmoplantar keratoderma | 33 tests |
| Palmoplantar keratoderma i, striate, focal, or diffuse | 2 tests |
| Palmoplantar keratoderma, Bothnian type | 2 tests |
| Palmoplantar keratoderma, epidermolytic | 4 tests |
| Palmoplantar keratoderma, nonepidermolytic, focal 1 | 3 tests |
| Palmoplantar keratoderma, nonepidermolytic, focal or diffuse | 2 tests |
| Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | 4 tests |
| Palmoplantar keratoderma-deafness syndrome | 13 tests |
| Palmoplantar keratoderma-esophageal carcinoma syndrome | 2 tests |
| Palpebral edema | 8 tests |
| Pancreatic adenocarcinoma | 2 tests |
| Pancreatic agenesis 1 | 8 tests |
| Pancreatic agenesis 2 | 4 tests |
| Pancreatic cancer, susceptibility to, 2 | 23 tests |
| Pancreatic cancer, susceptibility to, 3 | 14 tests |
| Pancreatic cancer, susceptibility to, 4 | 19 tests |
| Pancreatic fibrosis | 3 tests |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 9 tests |
| Pancreatic insufficiency-anemia-hyperostosis syndrome | 4 tests |
| Pancreatitis | 5 tests |
| Pancytopenia | 14 tests |
| Panhypopituitarism, X-linked | 7 tests |
| Panic disorder 1 | 5 tests |
| Panniculitis | 4 tests |
| Pansynostosis | 3 tests |
| Papillary renal cell carcinoma | 2 tests |
| Papillary renal cell carcinoma type 1 | 21 tests |
| Papillary thyroid carcinoma | 14 tests |
| Papillon-Lefèvre syndrome | 5 tests |
| Papule | 1 test |
| Para-Bombay phenotype | 2 tests |
| Paragangliomas 1 | 9 tests |
| Paragangliomas 2 | 7 tests |
| Paragangliomas 3 | 9 tests |
| Paragangliomas 4 | 10 tests |
| Paragangliomas 5 | 16 tests |
| Parakeratosis | 3 tests |
| Paramyotonia congenita of Von Eulenburg | 12 tests |
| Parastremmatic dwarfism | 11 tests |
| Parathormone-independent increased renal tubular calcium reabsorption | 3 tests |
| Parathyroid carcinoma | 5 tests |
| Paresthesia | 4 tests |
| Parietal foramina 1 | 3 tests |
| Parietal foramina 2 | 5 tests |
| Parietal foramina with cleidocranial dysplasia | 3 tests |
| Parkes Weber syndrome | 9 tests |
| Parkinson disease | 33 tests |
| Parkinson disease 11, autosomal dominant, susceptibility to | 2 tests |
| Parkinson disease 13, autosomal dominant, susceptibility to | 4 tests |
| Parkinson disease 17 | 3 tests |
| Parkinson disease 18, autosomal dominant, susceptibility to | 3 tests |
| Parkinson disease 5, autosomal dominant, susceptibility to | 3 tests |
| Parkinsonian-pyramidal syndrome | 3 tests |
| Paroxysmal extreme pain disorder | 12 tests |
| Paroxysmal nocturnal hemoglobinuria | 8 tests |
| Paroxysmal nonkinesigenic dyskinesia | 8 tests |
| Partial agenesis of the corpus callosum | 3 tests |
| Partial androgen insensitivity syndrome | 6 tests |
| Partial congenital absence of teeth | 5 tests |
| Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | 6 tests |
| Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 9 tests |
| Partington syndrome | 17 tests |
| Patchy osteosclerosis | 2 tests |
| Patellar aplasia | 12 tests |
| Patellar dislocation | 2 tests |
| Patellar subluxation | 1 test |
| Patent foramen ovale | 7 tests |
| Pathologic fracture | 2 tests |
| Patterned macular dystrophy 1 | 7 tests |
| Pectus carinatum | 32 tests |
| Pectus excavatum | 43 tests |
| Peeling skin syndrome 1 | 3 tests |
| Peeling skin syndrome 4 | 2 tests |
| Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome | 2 tests |
| Pelger-Huët anomaly | 5 tests |
| Pelizaeus-Merzbacher disease | 13 tests |
| Pelvic girdle muscle weakness | 4 tests |
| Pelviscapular dysplasia | 3 tests |
| Pendred syndrome | 19 tests |
| Pendular nystagmus | 4 tests |
| Peptic ulcer | 3 tests |
| Pericardial lymphangiectasia | 4 tests |
| Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 4 tests |
| Periodontitis | 1 test |
| Periodontitis, aggressive 1 | 5 tests |
| Periorbital fullness | 11 tests |
| Peripheral arteriovenous fistula | 3 tests |
| Peripheral axonal neuropathy | 13 tests |
| Peripheral neuropathy | 16 tests |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 4 tests |
| Peripheral vitreoretinal degeneration | 5 tests |
| Periventricular heterotopia | 5 tests |
| Periventricular heterotopia with microcephaly, autosomal recessive | 7 tests |
| Periventricular nodular heterotopia | 4 tests |
| Perlman syndrome | 5 tests |
| Permanent neonatal diabetes mellitus | 24 tests |
| Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | 4 tests |
| Peroxisome biogenesis disorder 10A (Zellweger) | 12 tests |
| Peroxisome biogenesis disorder 11A (Zellweger) | 9 tests |
| Peroxisome biogenesis disorder 11B | 9 tests |
| Peroxisome biogenesis disorder 12A (Zellweger) | 8 tests |
| Peroxisome biogenesis disorder 13A (Zellweger) | 11 tests |
| Peroxisome biogenesis disorder 14B | 7 tests |
| Peroxisome biogenesis disorder 1A (Zellweger) | 22 tests |
| Peroxisome biogenesis disorder 1B | 21 tests |
| Peroxisome biogenesis disorder 2A (Zellweger) | 12 tests |
| Peroxisome biogenesis disorder 2B | 12 tests |
| Peroxisome biogenesis disorder 3A (Zellweger) | 16 tests |
| Peroxisome biogenesis disorder 4A (Zellweger) | 16 tests |
| Peroxisome biogenesis disorder 4B | 16 tests |
| Peroxisome biogenesis disorder 5A (Zellweger) | 20 tests |
| Peroxisome biogenesis disorder 5B | 20 tests |
| Peroxisome biogenesis disorder 6A (Zellweger) | 15 tests |
| Peroxisome biogenesis disorder 6B | 15 tests |
| Peroxisome biogenesis disorder 7A (Zellweger) | 14 tests |
| Peroxisome biogenesis disorder 7B | 14 tests |
| Peroxisome biogenesis disorder 8A (Zellweger) | 9 tests |
| Peroxisome biogenesis disorder 8B | 9 tests |
| Peroxisome biogenesis disorder 9B | 27 tests |
| Perrault syndrome | 15 tests |
| Perrault syndrome 2 | 7 tests |
| Perrault syndrome 4 | 6 tests |
| Perry syndrome | 7 tests |
| Persistent Mullerian duct syndrome | 5 tests |
| Persistent bleeding after trauma | 8 tests |
| Persistent hyperplastic primary vitreous | 4 tests |
| Persistent pupillary membrane | 4 tests |
| Persistent truncus arteriosus | 4 tests |
| Personality changes | 6 tests |
| Personality disorder | 11 tests |
| Pes cavus | 38 tests |
| Pes planus | 12 tests |
| Petechiae | 6 tests |
| Peters plus syndrome | 5 tests |
| Pettigrew syndrome | 5 tests |
| Peutz-Jeghers syndrome | 17 tests |
| Pfeiffer syndrome | 19 tests |
| Phelan-McDermid syndrome | 5 tests |
| Phenylketonuria | 15 tests |
| Pheochromocytoma | 33 tests |
| Phocomelia | 9 tests |
| Phosphate transport defect | 13 tests |
| Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 6 tests |
| Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 7 tests |
| Phosphohydroxylysinuria | 1 test |
| Phosphoribosylpyrophosphate synthetase superactivity | 16 tests |
| Photophobia | 20 tests |
| Phrynoderma | 1 test |
| Phthisis bulbi | 4 tests |
| Phytanic acid storage disease | 29 tests |
| Pick disease | 9 tests |
| Piebaldism | 10 tests |
| Pierson syndrome | 5 tests |
| Pigmentary pallidal degeneration | 11 tests |
| Pigmentary retinal dystrophy | 12 tests |
| Pigmented nodular adrenocortical disease, primary, 1 | 12 tests |
| Pigmented nodular adrenocortical disease, primary, 2 | 2 tests |
| Pigmented nodular adrenocortical disease, primary, 3 | 2 tests |
| Pigmented nodular adrenocortical disease, primary, 4 | 1 test |
| Pigmented paravenous retinochoroidal atrophy | 10 tests |
| Pili torti-deafness syndrome | 19 tests |
| Pilomatrixoma | 12 tests |
| Pitt-Hopkins syndrome | 13 tests |
| Pitt-Hopkins-like syndrome 2 | 8 tests |
| Pituitary adenoma | 1 test |
| Pituitary dependent hypercortisolism | 3 tests |
| Pituitary hormone deficiency, combined, 1 | 8 tests |
| Pituitary hormone deficiency, combined, 2 | 12 tests |
| Pituitary hormone deficiency, combined, 6 | 8 tests |
| Pituitary hypothyroidism | 1 test |
| Pityriasis rubra pilaris | 5 tests |
| Plagiocephaly | 25 tests |
| Plasma fibronectin deficiency | 4 tests |
| Plasma triglyceride level quantitative trait locus | 2 tests |
| Plasminogen deficiency, type I | 8 tests |
| Platelet-activating factor acetylhydrolase deficiency | 2 tests |
| Platelet-type bleeding disorder 10 | 4 tests |
| Platelet-type bleeding disorder 11 | 5 tests |
| Platelet-type bleeding disorder 16 | 7 tests |
| Platelet-type bleeding disorder 17 | 4 tests |
| Platelet-type bleeding disorder 18 | 3 tests |
| Platelet-type bleeding disorder 8 | 4 tests |
| Platelet-type bleeding disorder 9 | 2 tests |
| Platyspondylic dysplasia, Torrance type | 20 tests |
| Platyspondyly | 13 tests |
| Pleural effusion | 1 test |
| Pleuropulmonary blastoma | 8 tests |
| Pneumonia | 7 tests |
| Poikiloderma | 1 test |
| Poikiloderma with neutropenia | 6 tests |
| Pointed chin | 12 tests |
| Polyagglutinable erythrocyte syndrome | 2 tests |
| Polycystic kidney disease | 19 tests |
| Polycystic kidney disease 2 | 7 tests |
| Polycystic kidney disease, adult type | 6 tests |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | 7 tests |
| Polycystic liver disease 1 | 4 tests |
| Polycystic ovaries | 11 tests |
| Polydactyly | 10 tests |
| Polydactyly of a biphalangeal thumb | 11 tests |
| Polydactyly of a triphalangeal thumb | 3 tests |
| Polyendocrine-polyneuropathy syndrome | 1 test |
| Polyglandular autoimmune syndrome, type 1 | 8 tests |
| Polyglucosan body myopathy | 5 tests |
| Polyhydramnios | 38 tests |
| Polyhydramnios, megalencephaly, and symptomatic epilepsy | 2 tests |
| Polymicrogyria | 12 tests |
| Polymicrogyria with optic nerve hypoplasia | 8 tests |
| Polymicrogyria, bilateral perisylvian, autosomal recessive | 11 tests |
| Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 2 tests |
| Polymorphous corneal dystrophy | 4 tests |
| Polyposis syndrome, hereditary mixed, 2 | 9 tests |
| Polysubstance abuse, susceptibility to | 3 tests |
| Polysyndactyly 4 | 13 tests |
| Pontocerebellar hypoplasia type 1B | 10 tests |
| Pontocerebellar hypoplasia type 2A | 8 tests |
| Pontocerebellar hypoplasia type 2B | 8 tests |
| Pontocerebellar hypoplasia type 2C | 7 tests |
| Pontocerebellar hypoplasia type 2D | 9 tests |
| Pontocerebellar hypoplasia type 4 | 8 tests |
| Pontocerebellar hypoplasia type 6 | 15 tests |
| Pontoneocerebellar hypoplasia | 13 tests |
| Poor head control | 8 tests |
| Poor speech | 21 tests |
| Poor suck | 5 tests |
| Popliteal pterygium | 2 tests |
| Popliteal pterygium syndrome | 6 tests |
| Porencephalic cyst | 17 tests |
| Porencephaly 2 | 5 tests |
| Porencephaly-microcephaly-bilateral congenital cataract syndrome | 4 tests |
| Porokeratosis 3, disseminated superficial actinic type | 8 tests |
| Porokeratosis of Mibelli | 3 tests |
| Porphobilinogen synthase deficiency | 4 tests |
| Porphyria cutanea tarda | 1 test |
| Portal hypertension | 9 tests |
| Portal vein thrombosis | 2 tests |
| Postanesthetic apnea | 5 tests |
| Postauricular skin tag | 2 tests |
| Postaxial foot polydactyly | 11 tests |
| Postaxial hand polydactyly | 24 tests |
| Postaxial polydactyly | 21 tests |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 9 tests |
| Posterior column ataxia-retinitis pigmentosa syndrome | 7 tests |
| Posterior embryotoxon | 6 tests |
| Posterior plagiocephaly | 3 tests |
| Posterior polar cataract | 1 test |
| Posterior polymorphous corneal dystrophy 2 | 4 tests |
| Posterior polymorphous corneal dystrophy 3 | 4 tests |
| Posterior retinal neovascularization | 2 tests |
| Posterior rib cupping | 1 test |
| Posterior rib fusion | 3 tests |
| Posterior scalloping of vertebral bodies | 1 test |
| Posterior subcapsular cataract | 6 tests |
| Posterior synechiae of the anterior chamber | 4 tests |
| Posterior vitreous detachment | 5 tests |
| Posteriorly rotated ears | 27 tests |
| Postmenopausal osteoporosis | 37 tests |
| Postural instability | 3 tests |
| Postural tremor | 6 tests |
| Potassium-aggravated myotonia | 12 tests |
| Potocki-Shaffer syndrome | 1 test |
| Prader-Willi syndrome | 12 tests |
| Preauricular skin tag | 6 tests |
| Preaxial polydactyly | 6 tests |
| Precocious puberty | 14 tests |
| Precocious puberty, central, 2 | 1 test |
| Predisposition to invasive fungal disease due to CARD9 deficiency | 3 tests |
| Preeclampsia | 8 tests |
| Preeclampsia/eclampsia 5 | 2 tests |
| Pregnancy loss, recurrent, susceptibility to, 1 | 8 tests |
| Pregnancy loss, recurrent, susceptibility to, 2 | 7 tests |
| Pregnancy loss, recurrent, susceptibility to, 3 | 2 tests |
| Prekallikrein deficiency | 5 tests |
| Prelingual sensorineural hearing impairment | 4 tests |
| Premature birth | 21 tests |
| Premature chromatid separation trait | 8 tests |
| Premature coronary artery atherosclerosis | 1 test |
| Premature graying of hair | 14 tests |
| Premature loss of primary teeth | 1 test |
| Premature ovarian failure | 4 tests |
| Premature ovarian failure 1 | 18 tests |
| Premature ovarian failure 2A | 2 tests |
| Premature ovarian failure 2B | 2 tests |
| Premature ovarian failure 3 | 6 tests |
| Premature ovarian failure 5 | 4 tests |
| Premature ovarian failure 6 | 4 tests |
| Premature ovarian failure 7 | 6 tests |
| Premature separation of centromeric heterochromatin | 9 tests |
| Prematurely aged appearance | 7 tests |
| Presenile cataracts | 2 tests |
| Preterm premature rupture of membranes | 6 tests |
| Pretibial dystrophic epidermolysis bullosa | 7 tests |
| Primary CD59 deficiency | 5 tests |
| Primary adrenocortical insufficiency | 14 tests |
| Primary amenorrhea | 15 tests |
| Primary ciliary dyskinesia | 23 tests |
| Primary ciliary dyskinesia 10 | 11 tests |
| Primary ciliary dyskinesia 11 | 7 tests |
| Primary ciliary dyskinesia 12 | 8 tests |
| Primary ciliary dyskinesia 13 | 11 tests |
| Primary ciliary dyskinesia 14 | 15 tests |
| Primary ciliary dyskinesia 15 | 11 tests |
| Primary ciliary dyskinesia 16 | 15 tests |
| Primary ciliary dyskinesia 17 | 10 tests |
| Primary ciliary dyskinesia 19 | 4 tests |
| Primary ciliary dyskinesia 2 | 8 tests |
| Primary ciliary dyskinesia 22 | 5 tests |
| Primary ciliary dyskinesia 3 | 15 tests |
| Primary ciliary dyskinesia 6 | 11 tests |
| Primary ciliary dyskinesia 7 | 11 tests |
| Primary ciliary dyskinesia 9 | 15 tests |
| Primary cutaneous amyloidosis | 2 tests |
| Primary dilated cardiomyopathy | 29 tests |
| Primary erythromelalgia | 12 tests |
| Primary failure of tooth eruption | 5 tests |
| Primary familial hypertrophic cardiomyopathy | 24 tests |
| Primary familial polycythemia due to EPO receptor mutation | 7 tests |
| Primary hyperoxaluria type 3 | 9 tests |
| Primary hyperoxaluria, type I | 8 tests |
| Primary hyperoxaluria, type II | 7 tests |
| Primary hyperparathyroidism | 3 tests |
| Primary hypomagnesemia | 5 tests |
| Primary immunodeficiency syndrome due to p14 deficiency | 5 tests |
| Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | 3 tests |
| Primary intestinal lymphangiectasia | 4 tests |
| Primary microcephaly | 6 tests |
| Primary myelofibrosis | 20 tests |
| Primary open angle glaucoma | 6 tests |
| Primitive reflex | 4 tests |
| Primrose syndrome | 1 test |
| Profound global developmental delay | 3 tests |
| Profound hearing impairment | 4 tests |
| Progeroid facial appearance | 3 tests |
| Progeroid features-hepatocellular carcinoma predisposition syndrome | 1 test |
| Progesterone resistance | 2 tests |
| Progressive | 59 tests |
| Progressive bulbar palsy of childhood | 7 tests |
| Progressive demyelinating neuropathy with bilateral striatal necrosis | 7 tests |
| Progressive encephalopathy with leukodystrophy due to DECR deficiency | 3 tests |
| Progressive external ophthalmoplegia | 7 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 29 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 9 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 7 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 14 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 29 tests |
| Progressive familial heart block type IB | 5 tests |
| Progressive familial heart block, type 1A | 18 tests |
| Progressive familial intrahepatic cholestasis | 5 tests |
| Progressive familial intrahepatic cholestasis type 2 | 9 tests |
| Progressive familial intrahepatic cholestasis type 3 | 5 tests |
| Progressive hearing impairment | 1 test |
| Progressive microcephaly | 11 tests |
| Progressive myoclonic epilepsy | 5 tests |
| Progressive myoclonic epilepsy type 3 | 9 tests |
| Progressive myoclonic epilepsy type 5 | 3 tests |
| Progressive myoclonic epilepsy type 6 | 10 tests |
| Progressive myositis ossificans | 5 tests |
| Progressive neurologic deterioration | 2 tests |
| Progressive osseous heteroplasia | 11 tests |
| Progressive pseudorheumatoid dysplasia | 4 tests |
| Progressive retinal dystrophy due to retinol transport defect | 6 tests |
| Progressive sclerosing poliodystrophy | 29 tests |
| Progressive sensorineural hearing impairment | 4 tests |
| Progressive supranuclear ophthalmoplegia | 6 tests |
| Progressive supranuclear palsy-parkinsonism syndrome | 6 tests |
| Progressive visual loss | 7 tests |
| Prolactin-producing pituitary gland adenoma | 3 tests |
| Prolidase deficiency | 4 tests |
| Proliferative vitreoretinopathy | 2 tests |
| Proline dehydrogenase deficiency | 9 tests |
| Prolinuria | 2 tests |
| Prolonged PR interval | 8 tests |
| Prolonged QT interval | 5 tests |
| Prolonged bleeding after surgery | 2 tests |
| Prolonged neonatal jaundice | 3 tests |
| Prolonged partial thromboplastin time | 7 tests |
| Prominence of the premaxilla | 8 tests |
| Prominent forehead | 37 tests |
| Prominent metopic ridge | 2 tests |
| Prominent nasal bridge | 30 tests |
| Prominent nasal septum | 1 test |
| Prominent nose | 18 tests |
| Prominent occiput | 12 tests |
| Prominent supraorbital ridges | 3 tests |
| Properdin deficiency, X-linked | 4 tests |
| Propionic acidemia | 12 tests |
| Proptosis | 58 tests |
| Prostate cancer, hereditary, 1 | 3 tests |
| Prostate cancer, hereditary, 13 | 2 tests |
| Prostate cancer, hereditary, 2 | 6 tests |
| Prostate cancer/brain cancer susceptibility | 2 tests |
| Proteasome-associated autoinflammatory syndrome 1 | 5 tests |
| Protein Z deficiency | 2 tests |
| Proteinuria | 29 tests |
| Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 7 tests |
| Proteus syndrome | 5 tests |
| Protoporphyria, erythropoietic, 1 | 5 tests |
| Protruding ear | 21 tests |
| Protruding tongue | 8 tests |
| Protuberant abdomen | 1 test |
| Proximal amyotrophy | 7 tests |
| Proximal muscle weakness | 18 tests |
| Proximal muscle weakness in lower limbs | 2 tests |
| Proximal myopathy with extrapyramidal signs | 2 tests |
| Proximal placement of thumb | 4 tests |
| Proximal symphalangism 1A | 4 tests |
| Proximal/middle symphalangism of 5th finger | 2 tests |
| Prune belly syndrome | 2 tests |
| Pruritus | 16 tests |
| Pseudo von Willebrand disease | 12 tests |
| Pseudo-Hurler polydystrophy | 10 tests |
| Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 5 tests |
| Pseudoepiphysis of the thumb | 1 test |
| Pseudoexfoliation glaucoma | 4 tests |
| Pseudofolliculitis barbae | 2 tests |
| Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance | 3 tests |
| Pseudohyperaldosteronism type 2 | 4 tests |
| Pseudohypoaldosteronism type 2B | 4 tests |
| Pseudohypoaldosteronism type 2C | 6 tests |
| Pseudohypoaldosteronism type 2D | 4 tests |
| Pseudohypoaldosteronism type 2E | 3 tests |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 9 tests |
| Pseudohypoparathyroidism | 11 tests |
| Pseudohypoparathyroidism type 1B | 12 tests |
| Pseudohypoparathyroidism type 1C | 11 tests |
| Pseudopseudohypoparathyroidism | 11 tests |
| Pseudoxanthoma elasticum, forme fruste | 9 tests |
| Psoriasis | 6 tests |
| Psoriasis 13, susceptibility to | 3 tests |
| Psoriasis 2 | 5 tests |
| Psoriasis 7, susceptibility to | 2 tests |
| Psoriatic arthritis, susceptibility to | 6 tests |
| Psychomotor retardation, epilepsy, and craniofacial dysmorphism | 3 tests |
| Psychotic disorder | 12 tests |
| Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | 7 tests |
| Ptosis | 93 tests |
| Ptosis, hereditary congenital, 1 | 1 test |
| Pulmonary alveolar proteinosis | 5 tests |
| Pulmonary arterial hypertension | 3 tests |
| Pulmonary capillary hemangiomatosis | 2 tests |
| Pulmonary embolism | 3 tests |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 10 tests |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 | 10 tests |
| Pulmonary hypertension, neonatal, susceptibility to | 12 tests |
| Pulmonary hypertension, primary, 1 | 26 tests |
| Pulmonary hypertension, primary, 2 | 5 tests |
| Pulmonary hypertension, primary, 3 | 9 tests |
| Pulmonary hypoplasia | 8 tests |
| Pulmonary infiltrates | 7 tests |
| Pulmonary lymphangiectasia | 4 tests |
| Pulmonary venoocclusive disease 1 | 6 tests |
| Pulmonary venous occlusion | 2 tests |
| Pulmonic stenosis | 16 tests |
| Purine-nucleoside phosphorylase deficiency | 6 tests |
| Pursed lips | 4 tests |
| Pyelonephritis | 3 tests |
| Pyknodysostosis | 9 tests |
| Pyle metaphyseal dysplasia | 1 test |
| Pyloric stenosis | 6 tests |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 4 tests |
| Pyogenic bacterial infections due to MyD88 deficiency | 7 tests |
| Pyridoxal phosphate-responsive seizures | 7 tests |
| Pyridoxine-dependent epilepsy | 10 tests |
| Pyropoikilocytosis, hereditary | 4 tests |
| Pyruvate carboxylase deficiency | 19 tests |
| Pyruvate dehydrogenase E1-alpha deficiency | 2 tests |
| Pyruvate dehydrogenase E1-beta deficiency | 12 tests |
| Pyruvate dehydrogenase E2 deficiency | 7 tests |
| Pyruvate dehydrogenase E3 deficiency | 20 tests |
| Pyruvate dehydrogenase E3-binding protein deficiency | 9 tests |
| Pyruvate dehydrogenase complex deficiency | 16 tests |
| Pyruvate dehydrogenase phosphatase deficiency | 7 tests |
| Pyruvate kinase deficiency of red cells | 5 tests |
| Pyruvate kinase hyperactivity | 5 tests |
| Quebec platelet disorder | 4 tests |
| Question mark ears, isolated | 2 tests |
| RAPH BLOOD GROUP SYSTEM | 1 test |
| RASopathy | 14 tests |
| RFT1-congenital disorder of glycosylation | 8 tests |
| RIDDLE syndrome | 3 tests |
| RIN2 syndrome | 3 tests |
| Rabson-Mendenhall syndrome | 12 tests |
| Radial aplasia-thrombocytopenia syndrome | 7 tests |
| Radial bowing | 8 tests |
| Radial club hand | 1 test |
| Radial deviation of finger | 10 tests |
| Radial deviation of the hand | 1 test |
| Radioulnar synostosis | 25 tests |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | 4 tests |
| Rafiq syndrome | 4 tests |
| Rapadilino syndrome | 13 tests |
| Rapp-Hodgkin syndrome | 6 tests |
| Recessive dystrophic epidermolysis bullosa | 8 tests |
| Rectal neoplasm | 9 tests |
| Rectilinear intracellular accumulation of autofluorescent lipopigment storage material | 9 tests |
| Rectovaginal fistula | 1 test |
| Recurrent Neisseria infections due to factor D deficiency | 5 tests |
| Recurrent aphthous stomatitis | 6 tests |
| Recurrent bacterial infections | 8 tests |
| Recurrent bronchitis | 4 tests |
| Recurrent fractures | 41 tests |
| Recurrent fungal infections | 3 tests |
| Recurrent infections | 31 tests |
| Recurrent long bone fractures | 2 tests |
| Recurrent lower respiratory tract infections | 5 tests |
| Recurrent mycobacterial infections | 2 tests |
| Recurrent otitis media | 26 tests |
| Recurrent pneumonia | 7 tests |
| Recurrent respiratory infections | 76 tests |
| Recurrent sinopulmonary infections | 2 tests |
| Recurrent sinusitis | 12 tests |
| Recurrent skin infections | 2 tests |
| Recurrent urinary tract infections | 11 tests |
| Recurrent viral infections | 5 tests |
| Reduced bone mineral density | 36 tests |
| Reduced consciousness | 3 tests |
| Reduced eye contact | 22 tests |
| Reduced factor VIII activity | 7 tests |
| Reduced insulin like growth factor binding protein acid labile subunit concentration | 2 tests |
| Reduced sperm motility | 5 tests |
| Reduced tendon reflexes | 36 tests |
| Reduced thyroxin-binding globulin | 3 tests |
| Reduced visual acuity | 19 tests |
| Refractory macrocytic anemia | 4 tests |
| Reis-Bucklers' corneal dystrophy | 5 tests |
| Relapsing remitting multiple sclerosis | 2 tests |
| Relative macrocephaly | 20 tests |
| Renal carnitine transport defect | 17 tests |
| Renal coloboma syndrome | 9 tests |
| Renal cortical microcysts | 4 tests |
| Renal corticomedullary cysts | 2 tests |
| Renal cyst | 15 tests |
| Renal cysts and diabetes syndrome | 12 tests |
| Renal dysplasia, cystic, susceptibility to | 3 tests |
| Renal hypodysplasia/aplasia 1 | 26 tests |
| Renal hypodysplasia/aplasia 2 | 2 tests |
| Renal hypomagnesemia 2 | 5 tests |
| Renal hypomagnesemia 4 | 4 tests |
| Renal hypomagnesemia 5 with ocular involvement | 7 tests |
| Renal hypomagnesemia 6 | 4 tests |
| Renal hypoplasia | 21 tests |
| Renal hypoplasia/aplasia | 30 tests |
| Renal insufficiency | 26 tests |
| Renal neoplasm | 7 tests |
| Renal phosphate wasting | 1 test |
| Renal sarcoma | 1 test |
| Renal tubular acidosis | 12 tests |
| Renal tubular acidosis with progressive nerve deafness | 10 tests |
| Renal tubular acidosis, distal, 4, with hemolytic anemia | 8 tests |
| Renal tubular dysfunction | 7 tests |
| Renal tubular dysgenesis | 20 tests |
| Renal-hepatic-pancreatic dysplasia 1 | 14 tests |
| Renal-hepatic-pancreatic dysplasia 2 | 7 tests |
| Renpenning syndrome | 15 tests |
| Respiratory acidosis | 3 tests |
| Respiratory distress | 10 tests |
| Respiratory failure | 14 tests |
| Respiratory insufficiency | 59 tests |
| Respiratory insufficiency due to defective ciliary clearance | 16 tests |
| Respiratory insufficiency due to muscle weakness | 13 tests |
| Respiratory tract infection | 4 tests |
| Resting heart rate | 2 tests |
| Restrictive cardiomyopathy | 1 test |
| Restrictive ventilatory defect | 11 tests |
| Reticular dysgenesis | 7 tests |
| Reticular hyperpigmentation | 1 test |
| Reticulate acropigmentation of Kitamura | 6 tests |
| Reticulocytosis | 2 tests |
| Retinal atrophy | 8 tests |
| Retinal calcification | 3 tests |
| Retinal cone dystrophy 3A | 5 tests |
| Retinal cone dystrophy 4 | 6 tests |
| Retinal degeneration | 18 tests |
| Retinal detachment | 17 tests |
| Retinal disorder | 10 tests |
| Retinal dysplasia | 15 tests |
| Retinal dystrophy | 15 tests |
| Retinal flecks | 1 test |
| Retinal fold | 4 tests |
| Retinal macular dystrophy type 2 | 7 tests |
| Retinal nonattachment | 4 tests |
| Retinal thinning | 6 tests |
| Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 9 tests |
| Retinitis pigmentosa | 48 tests |
| Retinitis pigmentosa 1 | 5 tests |
| Retinitis pigmentosa 10 | 6 tests |
| Retinitis pigmentosa 11 | 5 tests |
| Retinitis pigmentosa 12 | 10 tests |
| Retinitis pigmentosa 13 | 5 tests |
| Retinitis pigmentosa 14 | 6 tests |
| Retinitis pigmentosa 17 | 5 tests |
| Retinitis pigmentosa 18 | 5 tests |
| Retinitis pigmentosa 19 | 8 tests |
| Retinitis pigmentosa 2 | 5 tests |
| Retinitis pigmentosa 20 | 11 tests |
| Retinitis pigmentosa 23 | 24 tests |
| Retinitis pigmentosa 25 | 9 tests |
| Retinitis pigmentosa 26 | 10 tests |
| Retinitis pigmentosa 27 | 5 tests |
| Retinitis pigmentosa 28 | 9 tests |
| Retinitis pigmentosa 3 | 9 tests |
| Retinitis pigmentosa 30 | 5 tests |
| Retinitis pigmentosa 31 | 6 tests |
| Retinitis pigmentosa 33 | 5 tests |
| Retinitis pigmentosa 35 | 6 tests |
| Retinitis pigmentosa 36 | 5 tests |
| Retinitis pigmentosa 37 | 9 tests |
| Retinitis pigmentosa 38 | 5 tests |
| Retinitis pigmentosa 39 | 13 tests |
| Retinitis pigmentosa 4 | 7 tests |
| Retinitis pigmentosa 40 | 6 tests |
| Retinitis pigmentosa 41 | 7 tests |
| Retinitis pigmentosa 42 | 5 tests |
| Retinitis pigmentosa 43 | 5 tests |
| Retinitis pigmentosa 44 | 5 tests |
| Retinitis pigmentosa 45 | 5 tests |
| Retinitis pigmentosa 46 | 7 tests |
| Retinitis pigmentosa 47 | 6 tests |
| Retinitis pigmentosa 48 | 5 tests |
| Retinitis pigmentosa 49 | 5 tests |
| Retinitis pigmentosa 50 | 9 tests |
| Retinitis pigmentosa 51 | 12 tests |
| Retinitis pigmentosa 54 | 6 tests |
| Retinitis pigmentosa 55 | 10 tests |
| Retinitis pigmentosa 56 | 5 tests |
| Retinitis pigmentosa 57 | 5 tests |
| Retinitis pigmentosa 58 | 5 tests |
| Retinitis pigmentosa 59 | 14 tests |
| Retinitis pigmentosa 60 | 5 tests |
| Retinitis pigmentosa 61 | 16 tests |
| Retinitis pigmentosa 62 | 5 tests |
| Retinitis pigmentosa 66 | 5 tests |
| Retinitis pigmentosa 7 | 8 tests |
| Retinitis pigmentosa 9 | 5 tests |
| Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness | 9 tests |
| Retinitis pigmentosa-deafness syndrome | 2 tests |
| Retinitis punctata albescens | 1 test |
| Retinoblastoma | 8 tests |
| Retinopathy of prematurity | 1 test |
| Retrocerebellar cyst | 2 tests |
| Retrognathia | 15 tests |
| Rett syndrome | 14 tests |
| Rett syndrome, congenital variant | 11 tests |
| Revesz syndrome | 8 tests |
| Reynolds syndrome | 5 tests |
| Rh-null, regulator type | 3 tests |
| Rhabdoid tumor predisposition syndrome 1 | 8 tests |
| Rhabdoid tumor predisposition syndrome 2 | 9 tests |
| Rhabdomyosarcoma | 2 tests |
| Rhabdomyosarcoma, embryonal, 2 | 8 tests |
| Rheumatoid arthritis | 16 tests |
| Rhinitis | 11 tests |
| Rhizomelia | 7 tests |
| Rhizomelic chondrodysplasia punctata type 1 | 27 tests |
| Rhizomelic chondrodysplasia punctata type 2 | 7 tests |
| Rhizomelic chondrodysplasia punctata type 3 | 10 tests |
| Riboflavin transporter deficiency | 7 tests |
| Richieri Costa-Pereira syndrome | 1 test |
| Rickets | 4 tests |
| Rienhoff syndrome | 11 tests |
| Right atrial isomerism | 5 tests |
| Right bundle branch block | 9 tests |
| Right ventricular hypertrophy | 4 tests |
| Rigidity | 18 tests |
| Rimmed vacuoles | 5 tests |
| Ring dermoid of cornea | 9 tests |
| Rippling muscle disease 2 | 19 tests |
| Roberts-SC phocomelia syndrome | 9 tests |
| Robinow-Sorauf syndrome | 6 tests |
| Roifman syndrome | 1 test |
| Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 6 tests |
| Rotary nystagmus | 4 tests |
| Rothmund-Thomson syndrome | 12 tests |
| Rothmund-Thomson syndrome, type 3 | 3 tests |
| Rotor syndrome | 4 tests |
| Round ear | 3 tests |
| Round face | 35 tests |
| Roussy-Lévy syndrome | 10 tests |
| Rubinstein-Taybi syndrome | 10 tests |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 6 tests |
| SCOTT SYNDROME | 4 tests |
| SERKAL syndrome | 7 tests |
| SHORT syndrome | 5 tests |
| SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 4 tests |
| SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 7 tests |
| SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR | 5 tests |
| SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN | 4 tests |
| SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR | 2 tests |
| SLC35A1-congenital disorder of glycosylation | 7 tests |
| SRD5A3-congenital disorder of glycosylation | 10 tests |
| STING-associated vasculopathy with onset in infancy | 5 tests |
| SUDDEN INFANT DEATH SYNDROME | 19 tests |
| Saccharopinuria | 5 tests |
| Sacral defect with anterior meningocele | 2 tests |
| Sacral dimple | 17 tests |
| Saethre-Chotzen syndrome | 12 tests |
| Saldino-Mainzer syndrome | 11 tests |
| Salivary gland neoplasm | 2 tests |
| Salla disease | 12 tests |
| Sandal gap | 19 tests |
| Sandhoff disease | 13 tests |
| Sarcoidosis, susceptibility to, 2 | 1 test |
| Sarcoma | 13 tests |
| Sarcosine dehydrogenase deficiency | 3 tests |
| Sarcotubular myopathy | 18 tests |
| Scalp-ear-nipple syndrome | 3 tests |
| Scanning speech | 6 tests |
| Scapular winging | 6 tests |
| Scapulohumeral muscular dystrophy | 2 tests |
| Scapuloperoneal spinal muscular atrophy | 11 tests |
| SchC6pf-Schulz-Passarge syndrome | 6 tests |
| Schaaf-Yang syndrome | 4 tests |
| Schimke immuno-osseous dysplasia | 12 tests |
| Schinzel phocomelia syndrome | 3 tests |
| Schinzel-Giedion syndrome | 7 tests |
| Schistocytosis | 1 test |
| Schizencephaly | 16 tests |
| Schizophrenia | 32 tests |
| Schizophrenia 15 | 5 tests |
| Schizophrenia 18 | 2 tests |
| Schizophrenia 4 | 9 tests |
| Schizophrenia 6 | 2 tests |
| Schizophrenia 9 | 3 tests |
| Schneckenbecken dysplasia | 3 tests |
| Schnyder crystalline corneal dystrophy | 4 tests |
| Schwannomatosis 1 | 16 tests |
| Schwartz-Jampel syndrome | 6 tests |
| Scissor gait | 2 tests |
| Sclerocornea | 9 tests |
| Sclerosteosis 1 | 4 tests |
| Sclerosteosis 2 | 5 tests |
| Scoliosis | 130 tests |
| Scoliosis, isolated, susceptibility to, 3 | 20 tests |
| Sea-blue histiocyte syndrome | 6 tests |
| Seborrhea-like dermatitis with psoriasiform elements | 2 tests |
| Seborrheic dermatitis | 2 tests |
| Seborrheic keratosis | 7 tests |
| Seckel syndrome | 7 tests |
| Seckel syndrome 2 | 6 tests |
| Seckel syndrome 4 | 9 tests |
| Seckel syndrome 5 | 5 tests |
| Seckel syndrome 6 | 5 tests |
| Secondary amenorrhea | 5 tests |
| Secondary growth hormone deficiency | 5 tests |
| Secondary microcephaly | 8 tests |
| Seizure | 203 tests |
| Seizures, benign familial infantile, 3 | 10 tests |
| Seizures, benign familial neonatal, 1 | 12 tests |
| Seizures, benign familial neonatal, 2 | 8 tests |
| Selective pituitary resistance to thyroid hormone | 4 tests |
| Self-injurious behavior | 7 tests |
| Self-mutilation | 9 tests |
| Sengers syndrome | 8 tests |
| Senior-Loken syndrome 1 | 18 tests |
| Senior-Loken syndrome 4 | 10 tests |
| Senior-Loken syndrome 5 | 8 tests |
| Senior-Loken syndrome 6 | 26 tests |
| Senior-Loken syndrome 7 | 10 tests |
| Sensorimotor neuropathy | 6 tests |
| Sensorineural hearing loss disorder | 108 tests |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 30 tests |
| Sensory axonal neuropathy | 7 tests |
| Sensory neuropathy | 1 test |
| Sepsis | 5 tests |
| Septo-optic dysplasia sequence | 12 tests |
| Severe X-linked myotubular myopathy | 9 tests |
| Severe combined immunodeficiency disease | 7 tests |
| Severe combined immunodeficiency due to CARD11 deficiency | 4 tests |
| Severe combined immunodeficiency due to CORO1A deficiency | 6 tests |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 10 tests |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 11 tests |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 11 tests |
| Severe congenital hypochromic anemia with ringed sideroblasts | 2 tests |
| Severe congenital neutropenia | 12 tests |
| Severe cystic degeneration of the brain | 1 test |
| Severe dermatitis-multiple allergies-metabolic wasting syndrome | 2 tests |
| Severe dystonia | 1 test |
| Severe early-childhood-onset retinal dystrophy | 14 tests |
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | 5 tests |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2 tests |
| Severe global developmental delay | 8 tests |
| Severe intellectual disability-progressive spastic diplegia syndrome | 5 tests |
| Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | 2 tests |
| Severe muscular hypotonia | 20 tests |
| Severe myoclonic epilepsy in infancy | 19 tests |
| Severe neonatal-onset encephalopathy with microcephaly | 14 tests |
| Severe neurodegenerative syndrome with lipodystrophy | 17 tests |
| Severe platyspondyly | 4 tests |
| Severe primary microcephaly | 1 test |
| Severe short stature | 9 tests |
| Severe viral infection | 3 tests |
| Shallow acetabular fossae | 1 test |
| Shallow anterior chamber | 4 tests |
| Shallow orbits | 10 tests |
| Shawl scrotum | 6 tests |
| Short 4th metacarpal | 5 tests |
| Short 5th finger | 1 test |
| Short QT syndrome type 1 | 13 tests |
| Short QT syndrome type 2 | 16 tests |
| Short QT syndrome type 3 | 14 tests |
| Short chin | 13 tests |
| Short clavicles | 5 tests |
| Short columella | 9 tests |
| Short digit | 3 tests |
| Short distal phalanx of finger | 19 tests |
| Short distal phalanx of toe | 1 test |
| Short femoral neck | 2 tests |
| Short finger | 8 tests |
| Short foot | 12 tests |
| Short fourth metatarsal | 5 tests |
| Short hallux | 2 tests |
| Short humerus | 1 test |
| Short long bone | 10 tests |
| Short metacarpal | 15 tests |
| Short metatarsal | 3 tests |
| Short middle phalanx of finger | 2 tests |
| Short neck | 50 tests |
| Short nose | 53 tests |
| Short palm | 1 test |
| Short palpebral fissure | 16 tests |
| Short phalanx of finger | 4 tests |
| Short philtrum | 38 tests |
| Short ribs | 10 tests |
| Short sleep, familial natural, 1 | 2 tests |
| Short stature due to growth hormone qualitative anomaly | 1 test |
| Short stature due to partial GHR deficiency | 7 tests |
| Short stature due to primary acid-labile subunit deficiency | 2 tests |
| Short stature, microcephaly, and endocrine dysfunction | 3 tests |
| Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome | 2 tests |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 2 tests |
| Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 3 tests |
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 6 tests |
| Short thorax | 12 tests |
| Short thumb | 11 tests |
| Short tibia | 8 tests |
| Short toe | 21 tests |
| Short umbilical cord | 1 test |
| Short-rib thoracic dysplasia 6 with or without polydactyly | 6 tests |
| Short-rib thoracic dysplasia 7 with or without polydactyly | 7 tests |
| Shoulder girdle muscle weakness | 3 tests |
| Shprintzen-Goldberg syndrome | 7 tests |
| Shuffling gait | 1 test |
| Shwachman-Diamond syndrome 1 | 8 tests |
| Sialic acid storage disease, severe infantile type | 12 tests |
| Sialidosis type 2 | 9 tests |
| Sialuria | 16 tests |
| Sick sinus syndrome 1 | 18 tests |
| Sick sinus syndrome 2, autosomal dominant | 10 tests |
| Sick sinus syndrome 3, susceptibility to | 8 tests |
| Sideroblastic anemia | 8 tests |
| Sideroblastic anemia 2 | 6 tests |
| Silver-Russell syndrome 1 | 3 tests |
| Simplified gyral pattern | 22 tests |
| Simpson-Golabi-Behmel syndrome type 1 | 15 tests |
| Simpson-Golabi-Behmel syndrome type 2 | 24 tests |
| Single transverse palmar crease | 23 tests |
| Single umbilical artery | 3 tests |
| Sinoatrial node dysfunction and deafness | 4 tests |
| Sinusitis | 17 tests |
| Sirenomelia | 1 test |
| Sitosterolemia | 7 tests |
| Situs inversus | 27 tests |
| Sjögren-Larsson syndrome | 11 tests |
| Skeletal defects, genital hypoplasia, and intellectual disability | 3 tests |
| Skeletal dysplasia | 26 tests |
| Skeletal muscle hypertrophy | 1 test |
| Skin rash | 2 tests |
| Skin ulcer | 22 tests |
| Skin/hair/eye pigmentation, variation in, 10 | 2 tests |
| Skin/hair/eye pigmentation, variation in, 11 | 3 tests |
| Skin/hair/eye pigmentation, variation in, 2 | 5 tests |
| Skin/hair/eye pigmentation, variation in, 4 | 3 tests |
| Sleep abnormality | 13 tests |
| Sleep apnea | 2 tests |
| Slender build | 4 tests |
| Slender finger | 7 tests |
| Slender long bone | 12 tests |
| Slender nose | 4 tests |
| Sloping forehead | 22 tests |
| Slow acetylator due to N-acetyltransferase enzyme variant | 2 tests |
| Slow saccadic eye movements | 8 tests |
| Slow-growing hair | 6 tests |
| Small cell lung carcinoma | 8 tests |
| Small earlobe | 3 tests |
| Small for gestational age | 20 tests |
| Small hand | 4 tests |
| Small nail | 11 tests |
| Small pituitary gland | 1 test |
| Smith-Lemli-Opitz syndrome | 22 tests |
| Smith-Magenis syndrome | 10 tests |
| Smith-McCort dysplasia 1 | 5 tests |
| Smoking as a quantitative trait locus 3 | 3 tests |
| Smooth philtrum | 12 tests |
| Snowflake vitreoretinal degeneration | 4 tests |
| Sodium serum level quantitative trait locus 1 | 11 tests |
| Soft skin | 5 tests |
| Solitary median maxillary central incisor syndrome | 8 tests |
| Soluble interleukin-6 receptor, serum level of, quantitative trait locus | 2 tests |
| Somatic sensory dysfunction | 9 tests |
| Somatotroph adenoma | 15 tests |
| Sorsby fundus dystrophy | 6 tests |
| Sotos syndrome | 11 tests |
| Sparse and thin eyebrow | 19 tests |
| Sparse axillary hair | 5 tests |
| Sparse hair | 22 tests |
| Sparse lateral eyebrow | 1 test |
| Sparse pubic hair | 5 tests |
| Spastic ataxia | 6 tests |
| Spastic ataxia 3 | 6 tests |
| Spastic ataxia 4 | 7 tests |
| Spastic ataxia 5 | 7 tests |
| Spastic gait | 12 tests |
| Spastic paraparesis | 4 tests |
| Spastic paraplegia | 29 tests |
| Spastic paraplegia 52, autosomal recessive | 3 tests |
| Spastic tetraparesis | 7 tests |
| Spastic tetraplegia | 23 tests |
| Spasticity | 53 tests |
| Specific granule deficiency 1 | 3 tests |
| Specific learning disability | 12 tests |
| Speech apraxia | 3 tests |
| Speech articulation difficulties | 2 tests |
| Spermatogenic failure 11 | 4 tests |
| Spermatogenic failure 4 | 2 tests |
| Spermatogenic failure 7 | 6 tests |
| Spermatogenic failure 8 | 6 tests |
| Spermatogenic failure 9 | 5 tests |
| Sphingolipid activator protein 1 deficiency | 12 tests |
| Sphingomyelin/cholesterol lipidosis | 2 tests |
| Spina bifida occulta | 8 tests |
| Spinal canal stenosis | 6 tests |
| Spinal cord compression | 4 tests |
| Spinal dysraphism | 1 test |
| Spinal muscular atrophy | 9 tests |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 6 tests |
| Spinal rigidity | 7 tests |
| Spinocerebellar ataxia 7 | 6 tests |
| Spinocerebellar ataxia type 1 | 4 tests |
| Spinocerebellar ataxia type 10 | 5 tests |
| Spinocerebellar ataxia type 11 | 4 tests |
| Spinocerebellar ataxia type 12 | 4 tests |
| Spinocerebellar ataxia type 14 | 7 tests |
| Spinocerebellar ataxia type 15/16 | 6 tests |
| Spinocerebellar ataxia type 17 | 4 tests |
| Spinocerebellar ataxia type 19/22 | 9 tests |
| Spinocerebellar ataxia type 2 | 4 tests |
| Spinocerebellar ataxia type 23 | 4 tests |
| Spinocerebellar ataxia type 27 | 6 tests |
| Spinocerebellar ataxia type 28 | 7 tests |
| Spinocerebellar ataxia type 31 | 4 tests |
| Spinocerebellar ataxia type 34 | 12 tests |
| Spinocerebellar ataxia type 35 | 5 tests |
| Spinocerebellar ataxia type 36 | 3 tests |
| Spinocerebellar ataxia type 5 | 4 tests |
| Spinocerebellar ataxia type 6 | 17 tests |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | 5 tests |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 9 tests |
| Splenic rupture | 8 tests |
| Splenomegaly | 53 tests |
| Split hand-foot malformation 1 with sensorineural hearing loss | 3 tests |
| Split hand-foot malformation 4 | 6 tests |
| Split hand-foot malformation 6 | 2 tests |
| Spondylo-megaepiphyseal-metaphyseal dysplasia | 3 tests |
| Spondylocarpotarsal synostosis syndrome | 10 tests |
| Spondylocostal dysostosis | 11 tests |
| Spondylocostal dysostosis 2, autosomal recessive | 8 tests |
| Spondylocostal dysostosis 3, autosomal recessive | 4 tests |
| Spondylocostal dysostosis 4, autosomal recessive | 3 tests |
| Spondyloenchondrodysplasia with immune dysregulation | 5 tests |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | 6 tests |
| Spondyloepimetaphyseal dysplasia with multiple dislocations | 3 tests |
| Spondyloepimetaphyseal dysplasia, Maroteaux type | 11 tests |
| Spondyloepimetaphyseal dysplasia, Missouri type | 3 tests |
| Spondyloepimetaphyseal dysplasia, PAPSS2 type | 3 tests |
| Spondyloepimetaphyseal dysplasia, aggrecan type | 4 tests |
| Spondyloepimetaphyseal dysplasia, matrilin-3 type | 4 tests |
| Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | 3 tests |
| Spondyloepiphyseal dysplasia congenita | 20 tests |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | 4 tests |
| Spondyloepiphyseal dysplasia with metatarsal shortening | 20 tests |
| Spondyloepiphyseal dysplasia, Kimberley type | 4 tests |
| Spondylometaphyseal dysplasia | 21 tests |
| Spondylometaphyseal dysplasia, Kozlowski type | 11 tests |
| Spondylometaphyseal dysplasia, Sedaghatian type | 2 tests |
| Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | 2 tests |
| Spondyloperipheral dysplasia | 20 tests |
| Spongiform encephalopathy with neuropsychiatric features | 4 tests |
| Spongy degeneration of central nervous system | 19 tests |
| Spontaneous hematomas | 4 tests |
| Spontaneous, recurrent epistaxis | 3 tests |
| Spotty hypopigmentation | 3 tests |
| Sprinting performance | 1 test |
| Squamous cell carcinoma | 10 tests |
| Squamous cell carcinoma of the head and neck | 27 tests |
| Squared iliac bones | 3 tests |
| Stage 5 chronic kidney disease | 11 tests |
| Stapes ankylosis with broad thumbs and toes | 4 tests |
| Stargardt disease 3 | 12 tests |
| Stargardt disease 4 | 7 tests |
| Status epilepticus | 15 tests |
| Steatocystoma multiplex | 4 tests |
| Steatorrhea | 4 tests |
| Steel syndrome | 6 tests |
| Steinert myotonic dystrophy syndrome | 3 tests |
| Stenosis of the external auditory canal | 5 tests |
| Stenosis of the medullary cavity of the long bones | 2 tests |
| Steppage gait | 11 tests |
| Stereotypic movement disorder | 8 tests |
| Sterile multifocal osteomyelitis with periostitis and pustulosis | 4 tests |
| Sterol carrier protein 2 deficiency | 9 tests |
| Stickler syndrome type 1 | 20 tests |
| Stickler syndrome type 2 | 10 tests |
| Stickler syndrome, type 4 | 10 tests |
| Stickler syndrome, type 5 | 8 tests |
| Stickler syndrome, type I, nonsyndromic ocular | 20 tests |
| Stiff skin syndrome | 14 tests |
| Stillbirth | 9 tests |
| Stippled chondral calcification | 4 tests |
| Strabismus, susceptibility to | 89 tests |
| Stridor | 4 tests |
| Stroke, susceptibility to, 1 | 4 tests |
| Stuve-Wiedemann syndrome | 10 tests |
| Subacute progressive viral hepatitis | 2 tests |
| Subcutaneous hemorrhage | 24 tests |
| Submucous cleft hard palate | 8 tests |
| Succinate-semialdehyde dehydrogenase deficiency | 14 tests |
| Succinyl-CoA acetoacetate transferase deficiency | 9 tests |
| Sucrase-isomaltase deficiency | 3 tests |
| Sudden cardiac death | 14 tests |
| Sudden infant death-dysgenesis of the testes syndrome | 2 tests |
| Sulfite oxidase deficiency | 9 tests |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 8 tests |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 7 tests |
| Sunken cheeks | 10 tests |
| Superiorly displaced ears | 1 test |
| Supernumerary nipple | 5 tests |
| Superoxide dismutase, elevated extracellular | 2 tests |
| Supranuclear gaze palsy | 6 tests |
| Supravalvar aortic stenosis | 11 tests |
| Surfactant metabolism dysfunction, pulmonary, 1 | 4 tests |
| Surfactant metabolism dysfunction, pulmonary, 2 | 4 tests |
| Surfactant metabolism dysfunction, pulmonary, 5 | 3 tests |
| Susceptibility to HIV infection | 16 tests |
| Susceptibility to angioedema induced by ACE inhibitors | 2 tests |
| Susceptibility to bulimia nervosa | 7 tests |
| Susceptibility to mononeuropathy of the median nerve, mild | 5 tests |
| Susceptibility to respiratory infections associated with CD8alpha chain mutation | 5 tests |
| Symmetrical dyschromatosis of extremities | 8 tests |
| Symphalangism affecting the phalanges of the hallux | 2 tests |
| Symphalangism affecting the phalanges of the hand | 2 tests |
| Symphalangism, proximal, 1B | 4 tests |
| Symphalangism-brachydactyly syndrome | 4 tests |
| Syncope | 9 tests |
| Syndactyly | 17 tests |
| Syndactyly type 3 | 10 tests |
| Syndactyly type 4 | 3 tests |
| Syndactyly type 5 | 3 tests |
| Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) | 4 tests |
| Syndromic X-linked intellectual disability 14 | 5 tests |
| Syndromic X-linked intellectual disability 94 | 9 tests |
| Syndromic X-linked intellectual disability Claes-Jensen type | 7 tests |
| Syndromic X-linked intellectual disability Hedera type | 7 tests |
| Syndromic X-linked intellectual disability Lubs type | 14 tests |
| Syndromic X-linked intellectual disability Najm type | 15 tests |
| Syndromic X-linked intellectual disability Nascimento type | 9 tests |
| Syndromic X-linked intellectual disability Raymond type | 4 tests |
| Syndromic X-linked intellectual disability Siderius type | 5 tests |
| Syndromic X-linked intellectual disability Snyder type | 8 tests |
| Syndromic intellectual disability | 2 tests |
| Syndromic microphthalmia | 9 tests |
| Syndromic microphthalmia type 5 | 8 tests |
| Syndromic multisystem autoimmune disease due to ITCH deficiency | 3 tests |
| Synophrys | 9 tests |
| Synostosis of carpal bones | 10 tests |
| Synovial sarcoma | 1 test |
| Synpolydactyly type 1 | 3 tests |
| Synpolydactyly type 2 | 3 tests |
| Syringomyelia | 8 tests |
| Systemic lupus erythematosus | 16 tests |
| Systemic lupus erythematosus, susceptibility to, 1 | 2 tests |
| Systemic lupus erythematosus, susceptibility to, 10 | 2 tests |
| Systemic lupus erythematosus, susceptibility to, 6 | 3 tests |
| Systemic lupus erythematosus, susceptibility to, 9 | 5 tests |
| Systemic-onset juvenile idiopathic arthritis | 3 tests |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency | 5 tests |
| T-cell acute lymphoblastic leukemia | 3 tests |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | 6 tests |
| T-cell lymphoma/leukemia | 1 test |
| T-cell prolymphocytic leukemia | 1 test |
| TARP syndrome | 5 tests |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 3 tests |
| TMEM165-congenital disorder of glycosylation | 5 tests |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 5 tests |
| TWIST1-related craniosynostosis | 28 tests |
| Tachycardia | 3 tests |
| Tachypnea | 1 test |
| Talipes | 2 tests |
| Talipes equinovalgus | 9 tests |
| Talipes valgus | 2 tests |
| Tall stature | 1 test |
| Tall stature-scoliosis-macrodactyly of the great toes syndrome | 4 tests |
| Tangier disease | 4 tests |
| Tapered finger | 7 tests |
| Taq1A POLYMORPHISM | 2 tests |
| Tarsal synostosis | 3 tests |
| Tarsal-carpal coalition syndrome | 4 tests |
| Tatton-Brown-Rahman overgrowth syndrome | 4 tests |
| Taurodontism | 7 tests |
| Tay-Sachs disease | 19 tests |
| Tay-Sachs disease, variant AB | 5 tests |
| Teeth, supernumerary | 10 tests |
| Telangiectases of the cheeks | 8 tests |
| Telangiectasia | 3 tests |
| Telangiectasia of the skin | 18 tests |
| Telangiectasia, hereditary hemorrhagic, type 1 | 7 tests |
| Telangiectasia, hereditary hemorrhagic, type 2 | 6 tests |
| Telecanthus | 33 tests |
| Temple-Baraitser syndrome | 1 test |
| Temtamy preaxial brachydactyly syndrome | 5 tests |
| Temtamy syndrome | 8 tests |
| Tenorio syndrome | 1 test |
| Tented upper lip vermilion | 13 tests |
| Terminal osseous dysplasia-pigmentary defects syndrome | 24 tests |
| Tessier cleft | 1 test |
| Testicular anomalies with or without congenital heart disease | 9 tests |
| Testicular microlithiasis | 7 tests |
| Testicular neoplasm | 7 tests |
| Testosterone 17-beta-dehydrogenase deficiency | 6 tests |
| Tetraamelia syndrome 1 | 4 tests |
| Tetralogy of Fallot | 43 tests |
| Tetraplegia | 13 tests |
| Thanatophoric dysplasia type 1 | 17 tests |
| Thanatophoric dysplasia, type 2 | 17 tests |
| Thick corpus callosum | 5 tests |
| Thick eyebrow | 22 tests |
| Thick hair | 2 tests |
| Thick lower lip vermilion | 30 tests |
| Thick nasal alae | 1 test |
| Thick vermilion border | 14 tests |
| Thickened calvaria | 4 tests |
| Thickened cortex of long bones | 3 tests |
| Thickened glomerular basement membrane | 6 tests |
| Thickened nuchal skin fold | 18 tests |
| Thickened skin | 10 tests |
| Thiel-Behnke corneal dystrophy | 5 tests |
| Thin calvarium | 2 tests |
| Thin glomerular basement membrane | 2 tests |
| Thin metacarpal cortices | 4 tests |
| Thin ribs | 10 tests |
| Thin skin | 6 tests |
| Thin upper lip vermilion | 28 tests |
| Thin vermilion border | 11 tests |
| Thiopurine S-methyltransferase deficiency | 3 tests |
| Thiourea tasting | 2 tests |
| Thoracic aortic aneurysm | 6 tests |
| Thoracic dysplasia | 8 tests |
| Thoracic hypoplasia | 6 tests |
| Thoracic kyphoscoliosis | 1 test |
| Thoracolumbar scoliosis | 3 tests |
| Thrombocythemia 2 | 16 tests |
| Thrombocythemia 3 | 5 tests |
| Thrombocytopenia | 47 tests |
| Thrombocytopenia 1 | 13 tests |
| Thrombocytopenia 2 | 7 tests |
| Thrombocytopenia 4 | 7 tests |
| Thrombocytosis | 2 tests |
| Thrombomodulin-related bleeding disorder | 7 tests |
| Thrombophilia | 16 tests |
| Thrombophilia due to activated protein C resistance | 8 tests |
| Thrombophilia due to protein C deficiency, autosomal dominant | 6 tests |
| Thrombophilia due to protein C deficiency, autosomal recessive | 6 tests |
| Thrombophilia due to protein S deficiency, autosomal dominant | 6 tests |
| Thrombophilia due to protein S deficiency, autosomal recessive | 6 tests |
| Thrombophilia due to thrombin defect | 3 tests |
| Thrombophilia, X-linked, due to factor 9 defect | 8 tests |
| Thrombophilia, familial, due to decreased release of tissue plasminogen activator | 4 tests |
| Thrombophlebitis | 18 tests |
| Thromboxane synthetase deficiency | 6 tests |
| Thumbs, congenital Clasped | 17 tests |
| Thymus hyperplasia | 2 tests |
| Thyroglobulin synthesis defect | 3 tests |
| Thyroid cancer, nonmedullary, 2 | 42 tests |
| Thyroid dyshormonogenesis 1 | 4 tests |
| Thyroid dyshormonogenesis 6 | 3 tests |
| Thyroid hormone metabolism, abnormal 1 | 3 tests |
| Thyroid hormone resistance, generalized, autosomal dominant | 4 tests |
| Thyroid hormone resistance, generalized, autosomal recessive | 4 tests |
| Thyroid tumor | 4 tests |
| Thyrotoxic periodic paralysis, susceptibility to, 1 | 10 tests |
| Tibial bowing | 10 tests |
| Tibial deviation of toes | 1 test |
| Tibial muscular dystrophy | 19 tests |
| Tietz syndrome | 12 tests |
| Timothy syndrome | 13 tests |
| Tinnitus | 4 tests |
| Tip-toe gait | 9 tests |
| Tobacco addiction, susceptibility to | 15 tests |
| Toe syndactyly | 15 tests |
| Toenail dysplasia | 3 tests |
| Tongue fasciculations | 12 tests |
| Tongue nodules | 7 tests |
| Tooth agenesis | 26 tests |
| Tooth agenesis, selective, 3 | 2 tests |
| Tooth agenesis, selective, 4 | 6 tests |
| Tooth agenesis, selective, X-linked, 1 | 5 tests |
| Torsion dystonia | 11 tests |
| Torsion dystonia 6 | 3 tests |
| Torticollis | 12 tests |
| Tourette syndrome | 4 tests |
| Townes-Brocks syndrome 1 | 5 tests |
| Tracheal stenosis | 2 tests |
| Tracheoesophageal fistula | 15 tests |
| Transcobalamin II deficiency | 8 tests |
| Transferrin serum level quantitative trait locus 2 | 8 tests |
| Transient bullous dermolysis of the newborn | 7 tests |
| Transient hyperphenylalaninemia | 7 tests |
| Transient hypophosphatemia | 3 tests |
| Transient infantile hypertriglyceridemia and hepatosteatosis | 5 tests |
| Transitional cell carcinoma of the bladder | 15 tests |
| Transposition of the great arteries | 7 tests |
| Transposition of the great arteries, dextro-looped | 5 tests |
| Treacher Collins syndrome 1 | 6 tests |
| Treacher Collins syndrome 2 | 4 tests |
| Treacher Collins syndrome 3 | 5 tests |
| Tremor | 56 tests |
| Tremor, hereditary essential, 1 | 4 tests |
| Tremor, hereditary essential, 4 | 3 tests |
| Tretinoin response | 2 tests |
| Triangular face | 23 tests |
| Triangular mouth | 4 tests |
| Triangular-shaped open mouth | 8 tests |
| Trichilemmoma | 1 test |
| Tricho-dento-osseous syndrome | 4 tests |
| Trichohepatoenteric syndrome 1 | 9 tests |
| Trichohepatoenteric syndrome 2 | 2 tests |
| Trichomegaly | 1 test |
| Trichorhinophalangeal dysplasia type I | 4 tests |
| Trichorhinophalangeal syndrome, type III | 4 tests |
| Trichothiodystrophy 1, photosensitive | 13 tests |
| Trichothiodystrophy 4, nonphotosensitive | 3 tests |
| Trichotillomania | 3 tests |
| Tricuspid regurgitation | 2 tests |
| Triglyceride storage disease with ichthyosis | 6 tests |
| Trigonocephaly | 5 tests |
| Trigonocephaly 1 | 15 tests |
| Trigonocephaly 2 | 8 tests |
| Trimethylaminuria | 3 tests |
| Triosephosphate isomerase deficiency | 4 tests |
| Triphalangeal thumb | 1 test |
| Tropical pancreatitis | 3 tests |
| Truncal ataxia | 9 tests |
| Truncal obesity | 12 tests |
| Trypsinogen deficiency | 4 tests |
| Tuberous sclerosis 1 | 19 tests |
| Tuberous sclerosis 2 | 20 tests |
| Tuberous sclerosis syndrome | 4 tests |
| Tubulointerstitial kidney disease, autosomal dominant, 2 | 3 tests |
| Tumoral calcinosis, hyperphosphatemic, familial, 1 | 4 tests |
| Turricephaly | 6 tests |
| Type 1 collagen overmodification | 8 tests |
| Type 1 diabetes mellitus 10 | 5 tests |
| Type 1 diabetes mellitus 12 | 3 tests |
| Type 1 diabetes mellitus 2 | 6 tests |
| Type 1 diabetes mellitus 20 | 7 tests |
| Type 1 diabetes mellitus 22 | 2 tests |
| Type 1 diabetes mellitus 5 | 2 tests |
| Type 2 diabetes mellitus | 83 tests |
| Type A2 brachydactyly | 7 tests |
| Type I complement component 8 deficiency | 4 tests |
| Type I transferrin isoform profile | 4 tests |
| Type II complement component 8 deficiency | 4 tests |
| Typical Joubert syndrome MRI findings | 1 test |
| Tyrosinase-negative oculocutaneous albinism | 7 tests |
| Tyrosinase-positive oculocutaneous albinism | 6 tests |
| Tyrosinemia type I | 17 tests |
| Tyrosinemia type II | 8 tests |
| Tyrosinemia type III | 7 tests |
| UDPglucose-4-epimerase deficiency | 6 tests |
| UV-sensitive syndrome 1 | 15 tests |
| UV-sensitive syndrome 2 | 10 tests |
| UV-sensitive syndrome 3 | 2 tests |
| Ullrich congenital muscular dystrophy 1A | 10 tests |
| Ulnar deviation of the 2nd finger | 2 tests |
| Ulnar deviation of the hand or of fingers of the hand | 1 test |
| Ulnar-mammary syndrome | 3 tests |
| Umbilical hernia | 22 tests |
| Underdeveloped antitragus | 3 tests |
| Underdeveloped nasal alae | 20 tests |
| Underdeveloped supraorbital ridges | 14 tests |
| Underdeveloped tragus | 3 tests |
| Undetectable electroretinogram | 6 tests |
| Ungual dystrophy | 1 test |
| Unicoronal synostosis | 2 tests |
| Unsteady gait | 10 tests |
| Unverricht-Lundborg syndrome | 7 tests |
| Uplifted earlobe | 2 tests |
| Upper limb phocomelia | 9 tests |
| Upper limb spasticity | 4 tests |
| Upshaw-Schulman syndrome | 9 tests |
| Upslanted palpebral fissure | 32 tests |
| Uric acid concentration, serum, quantitative trait locus 1 | 2 tests |
| Uric acid concentration, serum, quantitative trait locus 4 | 2 tests |
| Urinary bladder carcinoma | 13 tests |
| Urinary bladder sphincter dysfunction | 1 test |
| Urinary incontinence | 8 tests |
| Urocanate hydratase deficiency | 3 tests |
| Urofacial syndrome type 1 | 3 tests |
| Urogenital fistula | 11 tests |
| Urticaria | 1 test |
| Usher syndrome type 1 | 16 tests |
| Usher syndrome type 1C | 15 tests |
| Usher syndrome type 1D | 19 tests |
| Usher syndrome type 1F | 18 tests |
| Usher syndrome type 1G | 8 tests |
| Usher syndrome type 1J | 8 tests |
| Usher syndrome type 2A | 15 tests |
| Usher syndrome type 2C | 10 tests |
| Usher syndrome type 3 | 16 tests |
| Usher syndrome type 3B | 7 tests |
| Uterine leiomyosarcoma | 15 tests |
| Uveal coloboma-cleft lip and palate-intellectual disability | 4 tests |
| Uveitis | 5 tests |
| VACTERL association, X-linked, with or without hydrocephalus | 16 tests |
| VACTERL with hydrocephalus | 25 tests |
| VATER association | 3 tests |
| Vaginal neoplasm | 2 tests |
| Van Buchem disease type 2 | 10 tests |
| Van Maldergem syndrome 1 | 5 tests |
| Van den Ende-Gupta syndrome | 3 tests |
| Van der Woude syndrome 1 | 7 tests |
| Vanishing white matter disease | 19 tests |
| Variegate porphyria | 11 tests |
| Vascular calcification | 6 tests |
| Vascular granular osmiophilic material deposition | 9 tests |
| Vasculitis | 9 tests |
| Vasculitis in the skin | 6 tests |
| Velocardiofacial syndrome | 14 tests |
| Venous insufficiency | 2 tests |
| Venous thrombosis, susceptibility to | 2 tests |
| Ventricular fibrillation | 8 tests |
| Ventricular fibrillation, paroxysmal familial, 2 | 4 tests |
| Ventricular fibrillation, paroxysmal familial, type 1 | 18 tests |
| Ventricular hypertrophy | 6 tests |
| Ventricular septal defect | 61 tests |
| Ventricular septal defect 1 | 9 tests |
| Ventricular septal defect 2 | 3 tests |
| Ventricular septal defect 3 | 13 tests |
| Ventriculomegaly-cystic kidney disease | 2 tests |
| Verrucae | 1 test |
| Vertebral compression fracture | 11 tests |
| Vertebral fusion | 4 tests |
| Vertebral segmentation defect | 13 tests |
| Vertigo | 7 tests |
| Very long chain acyl-CoA dehydrogenase deficiency | 19 tests |
| Vesicoureteral reflux | 18 tests |
| Vesicoureteral reflux 2 | 3 tests |
| Vesicoureteral reflux 3 | 3 tests |
| Vestibular areflexia | 4 tests |
| Vestibular hyporeflexia | 4 tests |
| Vici syndrome | 3 tests |
| Visceral angiomatosis | 3 tests |
| Visceral myopathy 1 | 1 test |
| Visual field defect | 14 tests |
| Visual hallucination | 9 tests |
| Visual impairment | 76 tests |
| Visual loss | 12 tests |
| Vitamin D hydroxylation-deficient rickets, type 1B | 3 tests |
| Vitamin D-dependent rickets type II with alopecia | 4 tests |
| Vitamin D-dependent rickets, type 1 | 4 tests |
| Vitamin K-dependent clotting factors, combined deficiency of, type 1 | 4 tests |
| Vitamin K-dependent clotting factors, combined deficiency of, type 2 | 4 tests |
| Vitamin b12 plasma level quantitative trait locus 1 | 2 tests |
| Vitelliform macular dystrophy | 3 tests |
| Vitelliform macular dystrophy 2 | 9 tests |
| Vitelliform-like macular lesions | 3 tests |
| Vitiligo-associated multiple autoimmune disease susceptibility 1 | 4 tests |
| Vitreous hemorrhage | 2 tests |
| Vocal cord paresis | 1 test |
| Volvulus | 3 tests |
| Vomiting | 4 tests |
| Von Hippel-Lindau syndrome | 13 tests |
| Waardenburg syndrome type 1 | 7 tests |
| Waardenburg syndrome type 2A | 12 tests |
| Waardenburg syndrome type 2D | 6 tests |
| Waardenburg syndrome type 2E | 10 tests |
| Waardenburg syndrome type 3 | 7 tests |
| Waardenburg syndrome type 4A | 7 tests |
| Waardenburg syndrome type 4B | 9 tests |
| Waardenburg syndrome type 4C | 10 tests |
| Waddling gait | 6 tests |
| Wagner syndrome | 6 tests |
| Walker-Warburg congenital muscular dystrophy | 39 tests |
| Warburg micro syndrome | 7 tests |
| Warburg micro syndrome 1 | 8 tests |
| Warburg micro syndrome 2 | 7 tests |
| Warburg micro syndrome 3 | 7 tests |
| Warfarin response | 11 tests |
| Warsaw breakage syndrome | 2 tests |
| Warts, hypogammaglobulinemia, infections, and myelokathexis | 5 tests |
| Weak RhD expression | 1 test |
| Weakness of the intrinsic hand muscles | 3 tests |
| Weaver syndrome | 6 tests |
| Webbed neck | 20 tests |
| Weight loss | 24 tests |
| Weill-Marchesani 4 syndrome, recessive | 3 tests |
| Weill-Marchesani syndrome 1 | 4 tests |
| Weill-Marchesani syndrome 2, dominant | 14 tests |
| Weill-Marchesani syndrome 3 | 6 tests |
| Werner syndrome | 7 tests |
| West Nile virus, susceptibility to | 2 tests |
| White blood cell count quantitative trait locus 1 | 2 tests |
| White matter neuronal heterotopia | 3 tests |
| White scaling skin | 2 tests |
| White sponge nevus 1 | 2 tests |
| White sponge nevus 2 | 2 tests |
| Wide anterior fontanel | 12 tests |
| Wide cranial sutures | 5 tests |
| Wide intermamillary distance | 13 tests |
| Wide mouth | 19 tests |
| Wide nasal base | 4 tests |
| Wide nasal bridge | 57 tests |
| Wide nasal ridge | 1 test |
| Wide nose | 12 tests |
| Wide proximal femoral metaphysis | 1 test |
| Widely spaced primary teeth | 2 tests |
| Widely spaced teeth | 6 tests |
| Widow's peak | 1 test |
| Wiedemann-Steiner syndrome | 2 tests |
| Williams syndrome | 12 tests |
| Wilms tumor 2 | 1 test |
| Wilms tumor 5 | 1 test |
| Wilson disease | 13 tests |
| Wilson-Turner syndrome | 6 tests |
| Wiskott-Aldrich syndrome 2 | 5 tests |
| Wolcott-Rallison dysplasia | 9 tests |
| Wolff-Parkinson-White pattern | 14 tests |
| Wolfram syndrome | 17 tests |
| Wolfram syndrome 2 | 8 tests |
| Wolfram-like syndrome | 16 tests |
| Woodhouse-Sakati syndrome | 4 tests |
| Woolly hair-skin fragility syndrome | 12 tests |
| Wooly hair | 2 tests |
| Wooly hair, autosomal recessive 1, with or without hypotrichosis | 4 tests |
| Wormian bones | 18 tests |
| Worster-Drought syndrome | 1 test |
| Worth disease | 10 tests |
| Wrinkly skin syndrome | 11 tests |
| Wrist flexion contracture | 9 tests |
| X-linked Alport syndrome | 8 tests |
| X-linked Emery-Dreifuss muscular dystrophy | 12 tests |
| X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency | 6 tests |
| X-linked Opitz G/BBB syndrome | 6 tests |
| X-linked agammaglobulinemia | 5 tests |
| X-linked agammaglobulinemia with growth hormone deficiency | 5 tests |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement | 2 tests |
| X-linked chondrodysplasia punctata 1 | 10 tests |
| X-linked complicated corpus callosum dysgenesis | 11 tests |
| X-linked cone-rod dystrophy 1 | 9 tests |
| X-linked cone-rod dystrophy 3 | 7 tests |
| X-linked distal spinal muscular atrophy type 3 | 11 tests |
| X-linked dominant chondrodysplasia, Chassaing-Lacombe type | 2 tests |
| X-linked dyserythropoetic anemia with abnormal platelets and neutropenia | 9 tests |
| X-linked dystonia-parkinsonism | 7 tests |
| X-linked erythropoietic protoporphyria | 6 tests |
| X-linked hydrocephalus syndrome | 11 tests |
| X-linked ichthyosis with steryl-sulfatase deficiency | 4 tests |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 10 tests |
| X-linked intellectual disability Cabezas type | 9 tests |
| X-linked intellectual disability with marfanoid habitus | 14 tests |
| X-linked intellectual disability, Stocco dos Santos type | 4 tests |
| X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | 4 tests |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 13 tests |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 14 tests |
| X-linked lissencephaly with abnormal genitalia | 17 tests |
| X-linked lymphoproliferative disease due to SH2D1A deficiency | 8 tests |
| X-linked lymphoproliferative disease due to XIAP deficiency | 5 tests |
| X-linked mixed hearing loss with perilymphatic gusher | 17 tests |
| X-linked myopathy with postural muscle atrophy | 11 tests |
| X-linked parkinsonism-spasticity syndrome | 7 tests |
| X-linked recessive nephrolithiasis with renal failure | 7 tests |
| X-linked scapuloperoneal muscular dystrophy | 11 tests |
| X-linked severe combined immunodeficiency | 9 tests |
| X-linked severe congenital neutropenia | 13 tests |
| X-linked sideroblastic anemia 1 | 6 tests |
| X-linked sideroblastic anemia with ataxia | 8 tests |
| X-linked syndromic intellectual disability | 4 tests |
| XFE progeroid syndrome | 10 tests |
| Xeroderma pigmentosum | 1 test |
| Xeroderma pigmentosum group A | 8 tests |
| Xeroderma pigmentosum group B | 8 tests |
| Xeroderma pigmentosum variant type | 4 tests |
| Xeroderma pigmentosum, group C | 8 tests |
| Xeroderma pigmentosum, group D | 11 tests |
| Xeroderma pigmentosum, group E | 4 tests |
| Xeroderma pigmentosum, group F | 10 tests |
| Xeroderma pigmentosum, group G | 9 tests |
| Xerostomia | 3 tests |
| Yellow-brown discoloration of the teeth | 3 tests |
| Yunis-Varon syndrome | 6 tests |
| Zimmermann-Laband syndrome | 1 test |
| Zimmermann-Laband syndrome 1 | 2 tests |
| Zinc deficiency, transient neonatal | 2 tests |
| alpha Thalassemia | 18 tests |
| appendicular lean mass relative to body height | 1 test |
| beta Thalassemia | 17 tests |
| delta Thalassemia | 2 tests |
| dyschromatosis | 1 test |
| growth hormone deficiency with short stature | 5 tests |
| intellectual disability with severe speech impairment | 2 tests |
| not provided | 2 tests |
| p phenotype | 2 tests |
| partial sensorineural deafness | 5 tests |
| spino-cellular carcinoma | 1 test |
| von Willebrand disease type 1 | 8 tests |
| von Willebrand disease type 2 | 8 tests |
| von Willebrand disease type 3 | 8 tests |