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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 ▼ |
|---|---|---|---|---|---|
| C0040580 | Tracheal Diseases | UGT2A1 | 10941 | UDP glucuronosyltransferase family 2 member A1 complex locus | Q9Y4X1 |
| C0677886 | Epithelial ovarian cancer | UGT2A1 | 10941 | UDP glucuronosyltransferase family 2 member A1 complex locus | Q9Y4X1 |
| C0006826 | Malignant Neoplasms | UGT2A1 | 10941 | UDP glucuronosyltransferase family 2 member A1 complex locus | Q9Y4X1 |
| C4721610 | Carcinoma, Ovarian Epithelial | UGT2A1 | 10941 | UDP glucuronosyltransferase family 2 member A1 complex locus | Q9Y4X1 |
| C0677886 | Epithelial ovarian cancer | UGT2A2 | 574537 | UDP glucuronosyltransferase family 2 member A2 | Q9Y4X1 |
| C4721610 | Carcinoma, Ovarian Epithelial | UGT2A2 | 574537 | UDP glucuronosyltransferase family 2 member A2 | Q9Y4X1 |
| C0025202 | melanoma | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0376358 | Malignant neoplasm of prostate | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0600139 | Prostate carcinoma | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0004096 | Asthma | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0027651 | Neoplasms | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0013274 | Patent ductus arteriosus | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0026764 | Multiple Myeloma | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0009324 | Ulcerative Colitis | CHST2 | 9435 | carbohydrate sulfotransferase 2 | Q9Y4C5 |
| C0029463 | Osteosarcoma | CHST2 | 9435 | carbohydrate sulfotransferase 2 | Q9Y4C5 |
| C1850900 | Familial primary gastric lymphoma | CHST2 | 9435 | carbohydrate sulfotransferase 2 | Q9Y4C5 |
| C0002736 | Amyotrophic Lateral Sclerosis | CHST2 | 9435 | carbohydrate sulfotransferase 2 | Q9Y4C5 |
| C0585442 | Osteosarcoma of bone | CHST2 | 9435 | carbohydrate sulfotransferase 2 | Q9Y4C5 |
| C0027651 | Neoplasms | CHST2 | 9435 | carbohydrate sulfotransferase 2 | Q9Y4C5 |
| C0010495 | Cutis Laxa | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0027092 | Myopia | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C4479409 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0852949 | Arteriopathic disease | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0007766 | Intracranial Aneurysm | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C1318518 | Infantile malignant osteopetrosis | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
