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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 |
|---|---|---|---|---|---|
| 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 |
| C0699743 | Congenital muscular dystrophy (disorder) | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0025958 | Microcephaly | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C3150418 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0266544 | Microcornea | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1531647 | Cerebral ventriculomegaly | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C3150411 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C3150416 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0036857 | Severe intellectual disability | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0010964 | Dandy-Walker Syndrome | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1861922 | CAMPOMELIC DYSPLASIA | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C3665347 | Visual Impairment | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0026850 | Muscular Dystrophy | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0020302 | Hydrophthalmos | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0000768 | Congenital Abnormality | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
