Hacettepe Dept. of Bioinformatics Rare Diseases Research Center (Institute of Health Sciences), HUBIOINF-RDRC
General information
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, HUBIOINF-RDRC
Institute of Health Sciences
Hacettepe University Faculty of Medicine, Sihhiye
Ankara
Ankara
Turkey - 06100
http://www.biyoinformatik.hacettepe.edu.tr/en
Organization ID: 507921
Institute of Health Sciences
Hacettepe University Faculty of Medicine, Sihhiye
Ankara
Ankara
Turkey - 06100
http://www.biyoinformatik.hacettepe.edu.tr/en
Organization ID: 507921
Personnel
- Can Kosukcu, Informatics staff
Phone: 00903123053039
Email: [email protected] - Idil Yet, Principal Investigator
Phone: 00903123053038
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 4
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Developmental and Epileptic Encephalopathy with Joint Laxity | 1 | Apr 2, 2021 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 1 | Feb 19, 2021 |
| Inflammatory skin and bowel disease, neonatal, 1 | 1 | Feb 19, 2021 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 1 | Feb 22, 2021 |