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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 ▼ |
|---|---|---|---|---|---|
| C1531647 | Cerebral ventriculomegaly | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0013384 | Dyskinetic syndrome | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0393590 | Fahr's syndrome (disorder) | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0025958 | Microcephaly | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C1306459 | Primary malignant neoplasm | B4GALNT3 | 283358 | beta-1,4-N-acetyl-galactosaminyltransferase 3 | Q6L9W6 |
| C1140680 | Malignant neoplasm of ovary | B4GALNT3 | 283358 | beta-1,4-N-acetyl-galactosaminyltransferase 3 | Q6L9W6 |
| C0007102 | Malignant tumor of colon | B4GALNT3 | 283358 | beta-1,4-N-acetyl-galactosaminyltransferase 3 | Q6L9W6 |
| C0699790 | Colon Carcinoma | B4GALNT3 | 283358 | beta-1,4-N-acetyl-galactosaminyltransferase 3 | Q6L9W6 |
| C0006826 | Malignant Neoplasms | B4GALNT3 | 283358 | beta-1,4-N-acetyl-galactosaminyltransferase 3 | Q6L9W6 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | B4GALNT3 | 283358 | beta-1,4-N-acetyl-galactosaminyltransferase 3 | Q6L9W6 |
| C0009402 | Colorectal Carcinoma | B4GALNT3 | 283358 | beta-1,4-N-acetyl-galactosaminyltransferase 3 | Q6L9W6 |
| C0238463 | Papillary thyroid carcinoma | B4GALNT3 | 283358 | beta-1,4-N-acetyl-galactosaminyltransferase 3 | Q6L9W6 |
| C0029408 | Degenerative polyarthritis | B4GALNT3 | 283358 | beta-1,4-N-acetyl-galactosaminyltransferase 3 | Q6L9W6 |
| C0004096 | Asthma | GALNT17 | 64409 | polypeptide N-acetylgalactosaminyltransferase 17 | Q6IS24 |
| C1510586 | Autism Spectrum Disorders | GALNT17 | 64409 | polypeptide N-acetylgalactosaminyltransferase 17 | Q6IS24 |
| C0027651 | Neoplasms | RAET1G | 353091 | retinoic acid early transcript 1G | Q6H3X3 |
| C0010414 | Infection by Cryptococcus neoformans | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0153252 | Systemic candidiasis | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0042384 | Vasculitis | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0010674 | Cystic Fibrosis | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C1306459 | Primary malignant neoplasm | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0008373 | Cholesteatoma | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0040247 | Tinea | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0026691 | Mucocutaneous Lymph Node Syndrome | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0003850 | Arteriosclerosis | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
