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 |
---|---|---|---|---|---|
C0344530 | Congenital keratoglobus | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0025958 | Microcephaly | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0009363 | Congenital ocular coloboma (disorder) | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0002418 | Amblyopia | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0035334 | Retinitis Pigmentosa | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C3714756 | Intellectual Disability | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0014877 | Esotropia | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C3665347 | Visual Impairment | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0878544 | Cardiomyopathies | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0265221 | Walker-Warburg congenital muscular dystrophy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0079924 | Oligohydramnios | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0036857 | Severe intellectual disability | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0017601 | Glaucoma | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0079541 | Holoprosencephaly | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0038379 | Strabismus | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0410174 | Fukuyama Type Congenital Muscular Dystrophy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0699743 | Congenital muscular dystrophy (disorder) | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0036439 | Scoliosis, unspecified | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0016202 | Flatfoot | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0025362 | Mental Retardation | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0175709 | Centronuclear myopathy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0029124 | Optic Atrophy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C0014548 | Epilepsy, Generalized | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
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Last updated: August 19, 2024