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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 |
|---|---|---|---|---|---|
| C0575158 | Kyphoscoliosis deformity of spine | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0456909 | Blindness | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0010964 | Dandy-Walker Syndrome | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0008924 | Cleft upper lip | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0035305 | Retinal Detachment | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C4015184 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0009363 | Congenital ocular coloboma (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0026848 | Myopathy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0015469 | Facial paralysis | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0079541 | Holoprosencephaly | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1384666 | hearing impairment | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1879312 | Agyria | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0751951 | Central Core Myopathy (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0009081 | Congenital clubfoot | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0270960 | Congenital myopathy (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C4015184 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0699743 | Congenital muscular dystrophy (disorder) | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0026850 | Muscular Dystrophy | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0010964 | Dandy-Walker Syndrome | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0266551 | Congenital coloboma of iris | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0038379 | Strabismus | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0029124 | Optic Atrophy | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C3808964 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0878544 | Cardiomyopathies | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
