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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 |
|---|---|---|---|---|---|
| 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 |
| C0027765 | nervous system disorder | MANEAL | 149175 | mannosidase endo-alpha like | Q5VSG8 |
| C0524851 | Neurodegenerative Disorders | MANEAL | 149175 | mannosidase endo-alpha like | Q5VSG8 |
| C3665347 | Visual Impairment | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0027092 | Myopia | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0026850 | Muscular Dystrophy | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0018784 | Sensorineural Hearing Loss (disorder) | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0854723 | Retinal Dystrophies | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0241005 | Creatine phosphokinase serum increased | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C3554638 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0086543 | Cataract | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0699743 | Congenital muscular dystrophy (disorder) | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0678222 | Breast Carcinoma | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0456909 | Blindness | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0036857 | Severe intellectual disability | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
