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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name | Gene Symbol ▲ | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0392525 | Nephrolithiasis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0085166 | Bacterial Vaginosis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0267963 | Exocrine pancreatic insufficiency | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0015625 | Fanconi Anemia | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0009806 | Constipation | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0019342 | Genital Herpes | CTSA | 5476 | cathepsin A | P10619 |
| C0268233 | GALACTOSIALIDOSIS | CTSA | 5476 | cathepsin A | P10619 |
| C0003507 | Aortic Valve Stenosis | CTSA | 5476 | cathepsin A | P10619 |
| C0751587 | CADASIL Syndrome | CTSA | 5476 | cathepsin A | P10619 |
| C0036572 | Seizures | CTSA | 5476 | cathepsin A | P10619 |
| C0017160 | Gastroenteritis | CTSA | 5476 | cathepsin A | P10619 |
| C1527349 | Ductal Breast Carcinoma | CTSA | 5476 | cathepsin A | P10619 |
| C0020538 | Hypertensive disease | CTSA | 5476 | cathepsin A | P10619 |
| C0085078 | Lysosomal Storage Diseases | CTSA | 5476 | cathepsin A | P10619 |
| C0018916 | Hemangioma | CTSA | 5476 | cathepsin A | P10619 |
| C0206638 | Giant Cell Tumor of Bone | CTSA | 5476 | cathepsin A | P10619 |
| C0010036 | Corneal dystrophy | CTSA | 5476 | cathepsin A | P10619 |
| C0026697 | Mucolipidoses | CTSA | 5476 | cathepsin A | P10619 |
| C1800706 | Idiopathic Pulmonary Fibrosis | CTSA | 5476 | cathepsin A | P10619 |
| C0003486 | Aortic Aneurysm | CTSA | 5476 | cathepsin A | P10619 |
| C0004096 | Asthma | CTSA | 5476 | cathepsin A | P10619 |
| C0152013 | Adenocarcinoma of lung (disorder) | CTSA | 5476 | cathepsin A | P10619 |
| C0085131 | Gangliosidosis GM1 | CTSA | 5476 | cathepsin A | P10619 |
| C2718068 | beta-Galactosidase Deficiency | CTSA | 5476 | cathepsin A | P10619 |
