Nephropathic cystinosis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Infantile nephropathic cystinosis | 411629 | CTNS | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Juvenile nephropathic cystinosis | 411634 | CTNS | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Nephropathic cystinosis | C2931187 | CTNS | Causal Pathogenic evidence from ClinVar | 9537412, 9792862, 10444339, 10482956, 10556299, 10625078, 11505338, 11565547, 11689434, 11855931, 12204010, 12442267, 12825071, 15128704, 15879904, 18178779, 18752449, 19852576, 19863563, 21786142, 21963264, 22450360, 23640116, 24464559, 25326109, 26266097, 26565940, 27102039, 27451386, 27604308, 27858370, 28238446, 28276207, 28649545, 29421779 | ClinVar |