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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 ▲ |
|---|---|---|---|---|---|
| C0566602 | Primary sclerosing cholangitis | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C3714636 | Pneumonitis | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0005745 | Blepharoptosis | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C1956346 | Coronary Artery Disease | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0027726 | Nephrotic Syndrome | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0019187 | Hepatitis, Alcoholic | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0948008 | Ischemic stroke | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0015652 | Fascioliasis | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C3887494 | ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C1168401 | Squamous cell carcinoma of the head and neck | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C1565489 | Renal Insufficiency | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0027404 | Narcolepsy | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0019189 | Hepatitis, Chronic | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0011265 | Presenile dementia | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0162557 | Liver Failure, Acute | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C1306459 | Primary malignant neoplasm | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0024141 | Lupus Erythematosus, Systemic | CHST12 | 55501 | carbohydrate sulfotransferase 12 | Q9NRB3 |
| C0024138 | Lupus Erythematosus, Discoid | CHST12 | 55501 | carbohydrate sulfotransferase 12 | Q9NRB3 |
| C0409974 | Lupus Erythematosus | CHST12 | 55501 | carbohydrate sulfotransferase 12 | Q9NRB3 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C4551568 | Joubert syndrome 1 | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0155299 | Coloboma of optic disc | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0028754 | Obesity | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0086543 | Cataract | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0265677 | Congenital hemivertebra | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
