Prabudh Goel Research Team (All India Institute Medical Sciences, New Delhi)
General information
Prabudh Goel Research Team
All India Institute Medical Sciences, New Delhi
All India Institute of Medical Sciences (AIIMS), New Delhi
New Delhi
Delhi
India - 110029
https://aiims.edu/
Organization ID: 509577
All India Institute Medical Sciences, New Delhi
All India Institute of Medical Sciences (AIIMS), New Delhi
New Delhi
Delhi
India - 110029
https://aiims.edu/
Organization ID: 509577
Personnel
- Prabudh Goel, Principal Investigator
Phone: +91-9999944511
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 14
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AP3D1 | 1 | Jun 5, 2024 |
| C9 | 1 | Jun 5, 2024 |
| DAB2 | 1 | Jun 7, 2024 |
| ENDOV | 1 | Jun 7, 2024 |
| MTSS2 | 1 | Jun 5, 2024 |
| NLGN2 | 1 | Jun 7, 2024 |
| NLRP9 | 1 | Jun 5, 2024 |
| NSD3 | 1 | Jun 6, 2024 |
| PCDHG@ | 1 | Jun 5, 2024 |
| PCDHGA1 | 1 | Jun 5, 2024 |
| PCDHGA10 | 1 | Jun 5, 2024 |
| PCDHGA11 | 1 | Jun 5, 2024 |
| PCDHGA2 | 1 | Jun 5, 2024 |
| PCDHGA3 | 1 | Jun 5, 2024 |
| PCDHGA4 | 1 | Jun 5, 2024 |
| PCDHGA5 | 1 | Jun 5, 2024 |
| PCDHGA6 | 1 | Jun 5, 2024 |
| PCDHGA7 | 1 | Jun 5, 2024 |
| PCDHGA8 | 1 | Jun 5, 2024 |
| PCDHGA9 | 1 | Jun 5, 2024 |
| PCDHGB1 | 1 | Jun 5, 2024 |
| PCDHGB2 | 1 | Jun 5, 2024 |
| PCDHGB3 | 1 | Jun 5, 2024 |
| PCDHGB4 | 1 | Jun 5, 2024 |
| PCDHGB5 | 1 | Jun 5, 2024 |
| PCDHGB6 | 1 | Jun 5, 2024 |
| PCDHGB7 | 1 | Jun 5, 2024 |
| PDZD2 | 1 | Jun 7, 2024 |
| PKD1 | 1 | Jun 7, 2024 |
| PLK1 | 1 | Jun 7, 2024 |
| PRSS3 | 1 | Jun 5, 2024 |
| PRUNE1 | 1 | Jun 7, 2024 |
| UBE2R2-AS1 | 1 | Jun 5, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Age related macular degeneration 15 | 1 | Jun 5, 2024 |
| Autism | 1 | Jun 7, 2024 |
| Congenital stationary night blindness | 1 | Jun 5, 2024 |
| Hermansky-Pudlak syndrome 10 | 1 | Jun 5, 2024 |
| Intellectual developmental disorder with ocular anomalies and distinctive facial features | 1 | Jun 5, 2024 |
| Lissencephaly | 1 | Jun 7, 2024 |
| Neurodevelopmental disorder | 1 | Jun 5, 2024 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 1 | Jun 7, 2024 |
| Nut midline carcinoma | 1 | Jun 6, 2024 |
| Polycystic kidney disease, adult type | 1 | Jun 7, 2024 |
| Teratocarcinoma | 1 | Jun 7, 2024 |
| Thyroiditis | 1 | Jun 5, 2024 |
| Trichothiodystrophy | 1 | Jun 7, 2024 |
| UMLS: C0007644 | 1 | Jun 7, 2024 |