Lesch-nyhan syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Lesch-Nyhan syndrome | 510 | HPRT1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Lesch-Nyhan Syndrome | C0023374 | HPRT1 | Causal Pathogenic evidence from ClinVar | 1934271, 2071157, 2246854, 2323782, 2347587, 2358296, 2572141, 2910902, 2928313, 3029599, 3265398, 3384338, 6853716, 7627191, 8664901, 9288634, 9452051, 11018746, 15571223, 17027311, 20176575, 20544509, 22132984, 24206569, 24940672, 27079129, 27604308, 28045594, 28495876 | ClinVar |
| Lesch-Nyhan Syndrome, Neurologic Variant | C1845892 | HPRT1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |