Pseudo-hurler polydystrophy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Pseudo-Hurler Polydystrophy | C0033788 | GNPTAB | Causal Pathogenic evidence from ClinVar | 15305357, 16094673, 16116615, 16200072, 16465621, 16630736, 17034777, 18425436, 19197337, 19617216, 19634183, 19659762, 19938078, 20880125, 21228398, 21416587, 23192343, 23227064, 23566849, 23773965, 24045841, 24060719, 24375680, 24550498, 24798265, 25107912, 25473036, 25505245, 25525159, 25606425, 25788519, 27180337, 27604308, 27662472, 27710913, 28095893, 28396763, 28918368 | ClinVar |
| MCOLN1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 20864526, 21613607 | - |