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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 ▲ |
|---|---|---|---|---|---|
| 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 |
| C0015469 | Facial paralysis | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0344530 | Congenital keratoglobus | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0035334 | Retinitis Pigmentosa | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0010038 | Corneal Opacity | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0010417 | Cryptorchidism | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0079541 | Holoprosencephaly | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0036439 | Scoliosis, unspecified | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0036572 | Seizures | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0035305 | Retinal Detachment | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0266483 | Pachygyria | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0086543 | Cataract | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
