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 ▲ |
---|---|---|---|---|---|
C0677886 | Epithelial ovarian cancer | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
C0007222 | Cardiovascular Diseases | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
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 |
C1846896 | Deafness, Autosomal Recessive 22 | OTOA | 146183 | otoancorin | Q7RTW8 |
C0268237 | Cytochrome-c Oxidase Deficiency | OTOA | 146183 | otoancorin | Q7RTW8 |
C1846647 | DEAFNESS, AUTOSOMAL RECESSIVE (disorder) | OTOA | 146183 | otoancorin | Q7RTW8 |
C1282975 | von Willebrand Disease, Type 2N | OTOA | 146183 | otoancorin | Q7RTW8 |
C0018784 | Sensorineural Hearing Loss (disorder) | OTOA | 146183 | otoancorin | Q7RTW8 |
C0302280 | Adrenogenital Syndrome | OTOA | 146183 | otoancorin | Q7RTW8 |
C1384666 | hearing impairment | OTOA | 146183 | otoancorin | Q7RTW8 |
C0452138 | Sensorineural hearing loss, bilateral | OTOA | 146183 | otoancorin | Q7RTW8 |
C3150275 | COMPLEMENT COMPONENT 2 DEFICIENCY | OTOA | 146183 | otoancorin | Q7RTW8 |
C0001627 | Congenital adrenal hyperplasia | OTOA | 146183 | otoancorin | Q7RTW8 |
C0221757 | alpha 1-Antitrypsin Deficiency | OTOA | 146183 | otoancorin | Q7RTW8 |
C0919267 | ovarian neoplasm | PRSS41 | 360226 | serine protease 41 | Q7RTY9 |
C1140680 | Malignant neoplasm of ovary | TIPARP | 25976 | TCDD inducible poly(ADP-ribose) polymerase | Q7Z3E1 |
C1306459 | Primary malignant neoplasm | TIPARP | 25976 | TCDD inducible poly(ADP-ribose) polymerase | Q7Z3E1 |
C0019158 | Hepatitis | TIPARP | 25976 | TCDD inducible poly(ADP-ribose) polymerase | Q7Z3E1 |
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Last updated: August 19, 2024