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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 |
|---|---|---|---|---|---|
| C0686353 | Muscular Dystrophies, Limb-Girdle | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0686347 | Tardive Dyskinesia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0686347 | Tardive Dyskinesia | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0686347 | Tardive Dyskinesia | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0686347 | Tardive Dyskinesia | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0686347 | Tardive Dyskinesia | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0686347 | Tardive Dyskinesia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0686347 | Tardive Dyskinesia | GFRA2 | 2675 | GDNF family receptor alpha 2 | O00451 |
| C0686347 | Tardive Dyskinesia | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0686347 | Tardive Dyskinesia | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0686347 | Tardive Dyskinesia | PIP4K2C | 79837 | phosphatidylinositol-5-phosphate 4-kinase type 2 gamma | Q8TBX8 |
| C0686347 | Tardive Dyskinesia | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0686347 | Tardive Dyskinesia | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0686347 | Tardive Dyskinesia | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0686347 | Tardive Dyskinesia | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C0686347 | Tardive Dyskinesia | PIP4K2A | 5305 | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha | P48426 |
| C0685938 | Malignant neoplasm of gastrointestinal tract | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0685938 | Malignant neoplasm of gastrointestinal tract | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0685938 | Malignant neoplasm of gastrointestinal tract | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
