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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 |
|---|---|---|---|---|---|
| C0020620 | Hypohidrosis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0020621 | Hypokalemia | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0035579 | Rickets | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0085636 | Photophobia | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0013336 | Dwarfism | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0033687 | Proteinuria | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0005940 | Bone Diseases | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0085682 | Hypophosphatemia | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0025517 | Metabolic Diseases | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0011849 | Diabetes Mellitus | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C3537440 | Cystinosis, Infantile Nephropathic | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C1857395 | De Toni-Debre-Fanconi Syndrome | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0151721 | Testicular hypogonadism | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0002395 | Alzheimer's Disease | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0035334 | Retinitis Pigmentosa | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0155119 | Recurrent erosion of cornea | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| 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 |
| C0011991 | Diarrhea | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
| C0678222 | Breast Carcinoma | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
| C0017536 | Giardiasis | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
