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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 ▼ |
|---|---|---|---|---|---|
| C0015393 | Eye Abnormalities | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0010038 | Corneal Opacity | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0344530 | Congenital keratoglobus | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| 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 |
| C2930997 | Congenital disorder of glycosylation type 1C | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C0282577 | Congenital Disorders of Glycosylation | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C0349653 | Congenital disorder of glycosylation type 1A | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C0038379 | Strabismus | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C0014544 | Epilepsy | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C0036572 | Seizures | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C0272375 | Antithrombin III Deficiency | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
