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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 |
|---|---|---|---|---|---|
| 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 |
| C0338502 | Hypoplasia of the optic nerve | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0038379 | Strabismus | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C3536714 | Renal dysplasia | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0026010 | Microphthalmos | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0026848 | Myopathy | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1306459 | Primary malignant neoplasm | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0008925 | Cleft Palate | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1879312 | Agyria | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0520947 | Clumsiness - motor delay | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0009363 | Congenital ocular coloboma (disorder) | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0037822 | Speech Disorders | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0241005 | Creatine phosphokinase serum increased | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0008924 | Cleft upper lip | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
