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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 ▲ |
|---|---|---|---|---|---|
| C0025958 | Microcephaly | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0029124 | Optic Atrophy | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0035305 | Retinal Detachment | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0026010 | Microphthalmos | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C1531647 | Cerebral ventriculomegaly | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0007131 | Non-Small Cell Lung Carcinoma | XXYLT1 | 152002 | xyloside xylosyltransferase 1 | Q8NBI6 |
| C0235480 | Paroxysmal atrial fibrillation | XXYLT1 | 152002 | xyloside xylosyltransferase 1 | Q8NBI6 |
| C0028754 | Obesity | XXYLT1 | 152002 | xyloside xylosyltransferase 1 | Q8NBI6 |
| C0152013 | Adenocarcinoma of lung (disorder) | XXYLT1 | 152002 | xyloside xylosyltransferase 1 | Q8NBI6 |
| C0004238 | Atrial Fibrillation | XXYLT1 | 152002 | xyloside xylosyltransferase 1 | Q8NBI6 |
| C0684249 | Carcinoma of lung | XXYLT1 | 152002 | xyloside xylosyltransferase 1 | Q8NBI6 |
| C0037369 | Smoking | XXYLT1 | 152002 | xyloside xylosyltransferase 1 | Q8NBI6 |
| C0242379 | Malignant neoplasm of lung | XXYLT1 | 152002 | xyloside xylosyltransferase 1 | Q8NBI6 |
| C0029456 | Osteoporosis | XXYLT1 | 152002 | xyloside xylosyltransferase 1 | Q8NBI6 |
| C0027651 | Neoplasms | XXYLT1 | 152002 | xyloside xylosyltransferase 1 | Q8NBI6 |
| C0235946 | Cerebral atrophy | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0029463 | Osteosarcoma | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0027404 | Narcolepsy | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0302892 | Congenital porencephaly | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C4082173 | Porencephaly | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0036572 | Seizures | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0585442 | Osteosarcoma of bone | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0796154 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C1332986 | Childhood Osteosarcoma | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0426970 | Spastic Quadriplegia | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
