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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 |
|---|---|---|---|---|---|
| C1384666 | hearing impairment | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0026267 | Mitral Valve Prolapse Syndrome | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0156312 | Atrophy of testis | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0042133 | Uterine Fibroids | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0003507 | Aortic Valve Stenosis | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0013336 | Dwarfism | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0268312 | Progressive intrahepatic cholestasis (disorder) | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0020255 | Hydrocephalus | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0036341 | Schizophrenia | CHST10 | 9486 | carbohydrate sulfotransferase 10 | O43529 |
| C0011311 | Dengue Fever | CHST10 | 9486 | carbohydrate sulfotransferase 10 | O43529 |
| C0008925 | Cleft Palate | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0002736 | Amyotrophic Lateral Sclerosis | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0037299 | Skin Ulcer | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0039685 | Tetralogy of Fallot | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0004352 | Autistic Disorder | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0221356 | Brachycephaly | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0019569 | Hirschsprung Disease | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0014877 | Esotropia | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0023449 | Acute lymphocytic leukemia | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0027066 | Myoclonus | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0020608 | Hypodontia | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0020490 | Hyperopia | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C1384666 | hearing impairment | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0018818 | Ventricular Septal Defects | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0271270 | Oculovestibuloauditory syndrome | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
