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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 |
|---|---|---|---|---|---|
| C0266544 | Microcornea | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0376358 | Malignant neoplasm of prostate | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0018817 | Atrial Septal Defects | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C1384666 | hearing impairment | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0022410 | Joint Instability | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C3489393 | Hiatal Hernia | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C1531647 | Cerebral ventriculomegaly | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0027726 | Nephrotic Syndrome | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0035305 | Retinal Detachment | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0038379 | Strabismus | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0265213 | Distal arthrogryposis syndrome | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C4551497 | Ehlers-Danlos syndrome kyphoscoliotic type | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0020295 | Hydronephrosis | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0025202 | melanoma | LYPLA2 | 11313 | lysophospholipase 2 | O95372 |
| C0020474 | Hyperlipidemia, Familial Combined | LYPLA2 | 11313 | lysophospholipase 2 | O95372 |
| C0001857 | AIDS related complex | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C0036646 | Age-related cataract | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C0001973 | Alcoholic Intoxication, Chronic | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C2931822 | Nasopharyngeal carcinoma | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C3495417 | Hemifacial microsomia | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C0010068 | Coronary heart disease | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C0013720 | Ehlers-Danlos Syndrome | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C4552003 | EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0029408 | Degenerative polyarthritis | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
