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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 | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0036857 | Severe intellectual disability | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0036572 | Seizures | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0036439 | Scoliosis, unspecified | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C3150416 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0266551 | Congenital coloboma of iris | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0035334 | Retinitis Pigmentosa | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0086543 | Cataract | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0025958 | Microcephaly | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C3665347 | Visual Impairment | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0546264 | Congenital Fiber Type Disproportion | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0878544 | Cardiomyopathies | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0266483 | Pachygyria | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0241005 | Creatine phosphokinase serum increased | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0235991 | Small for gestational age (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0017601 | Glaucoma | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C2875316 | Myotubular (centronuclear) myopathy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0521694 | Atrophic retina | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0020302 | Hydrophthalmos | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0037822 | Speech Disorders | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0079924 | Oligohydramnios | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1261470 | Congenital meningocele | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0000768 | Congenital Abnormality | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
