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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 |
|---|---|---|---|---|---|
| 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 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | FKTN | 2218 | fukutin | O75072 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| 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 |
