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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 ▼ |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0017601 | Glaucoma | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C3714756 | Intellectual Disability | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0010964 | Dandy-Walker Syndrome | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0020255 | Hydrocephalus | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0266544 | Microcornea | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0036572 | Seizures | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C3553813 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0241005 | Creatine phosphokinase serum increased | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0010417 | Cryptorchidism | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0026850 | Muscular Dystrophy | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0024530 | Malaria | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
