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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 ▼ |
|---|---|---|---|---|---|
| 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 |
| C1261470 | Congenital meningocele | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0008354 | Cholera | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C0678222 | Breast Carcinoma | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C0009324 | Ulcerative Colitis | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C0002395 | Alzheimer's Disease | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C3495559 | Juvenile arthritis | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C0699790 | Colon Carcinoma | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C2239176 | Liver carcinoma | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C0027651 | Neoplasms | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
