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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 |
|---|---|---|---|---|---|
| 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 |
| C0006826 | Malignant Neoplasms | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0017601 | Glaucoma | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0020490 | Hyperopia | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C3150415 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0038379 | Strabismus | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0699743 | Congenital muscular dystrophy (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0006118 | Brain Neoplasms | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C3714756 | Intellectual Disability | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0520947 | Clumsiness - motor delay | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0026850 | Muscular Dystrophy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C3536714 | Renal dysplasia | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C2751052 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
