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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 | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C3150411 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C3150416 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0036857 | Severe intellectual disability | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0010964 | Dandy-Walker Syndrome | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1861922 | CAMPOMELIC DYSPLASIA | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C3665347 | Visual Impairment | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0026850 | Muscular Dystrophy | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0020302 | Hydrophthalmos | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0000768 | Congenital Abnormality | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0025362 | Mental Retardation | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0020255 | Hydrocephalus | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0456909 | Blindness | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0007193 | Cardiomyopathy, Dilated | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0521694 | Atrophic retina | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0027092 | Myopia | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0003466 | Anus, Imperforate | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0266551 | Congenital coloboma of iris | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0022679 | Cystic kidney | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0029124 | Optic Atrophy | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1261470 | Congenital meningocele | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
