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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 |
|---|---|---|---|---|---|
| C0026850 | Muscular Dystrophy | ENO1 | 2023 | enolase 1 | P06733 |
| C0026850 | Muscular Dystrophy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0026850 | Muscular Dystrophy | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0026850 | Muscular Dystrophy | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0026850 | Muscular Dystrophy | DCN | 1634 | decorin | P07585 |
| C0026850 | Muscular Dystrophy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0026850 | Muscular Dystrophy | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C0026850 | Muscular Dystrophy | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0026850 | Muscular Dystrophy | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0026850 | Muscular Dystrophy | LGALS3 | 3958 | galectin 3 | P17931 |
| C0026850 | Muscular Dystrophy | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0026850 | Muscular Dystrophy | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0026850 | Muscular Dystrophy | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0026850 | Muscular Dystrophy | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0026850 | Muscular Dystrophy | PRG2 | 5553 | proteoglycan 2, pro eosinophil major basic protein | P13727 |
| C0026850 | Muscular Dystrophy | SI | 6476 | sucrase-isomaltase | P14410 |
| C0026850 | Muscular Dystrophy | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0026850 | Muscular Dystrophy | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0026850 | Muscular Dystrophy | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0026850 | Muscular Dystrophy | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0026850 | Muscular Dystrophy | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0026850 | Muscular Dystrophy | GK | 2710 | glycerol kinase | P32189 |
| C0026850 | Muscular Dystrophy | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0026850 | Muscular Dystrophy | SDC2 | 6383 | syndecan 2 | P34741 |
| C0026850 | Muscular Dystrophy | CHKA | 1119 | choline kinase alpha | P35790 |
