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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 |
|---|---|---|---|---|---|
| C0007959 | Charcot-Marie-Tooth Disease | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0007959 | Charcot-Marie-Tooth Disease | ARSA | 410 | arylsulfatase A | P15289 |
| C0007959 | Charcot-Marie-Tooth Disease | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0007959 | Charcot-Marie-Tooth Disease | HK1 | 3098 | hexokinase 1 | P19367 |
| C0007959 | Charcot-Marie-Tooth Disease | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0007959 | Charcot-Marie-Tooth Disease | CANX | 821 | calnexin | P27824 |
| C0007959 | Charcot-Marie-Tooth Disease | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
| C0007959 | Charcot-Marie-Tooth Disease | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0007959 | Charcot-Marie-Tooth Disease | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0007959 | Charcot-Marie-Tooth Disease | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0007959 | Charcot-Marie-Tooth Disease | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0007959 | Charcot-Marie-Tooth Disease | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0007959 | Charcot-Marie-Tooth Disease | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0007959 | Charcot-Marie-Tooth Disease | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0007959 | Charcot-Marie-Tooth Disease | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0007959 | Charcot-Marie-Tooth Disease | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0007959 | Charcot-Marie-Tooth Disease | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0007959 | Charcot-Marie-Tooth Disease | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0007959 | Charcot-Marie-Tooth Disease | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0007965 | Chediak-Higashi Syndrome | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0007965 | Chediak-Higashi Syndrome | ANXA5 | 308 | annexin A5 | P08758 |
| C0007965 | Chediak-Higashi Syndrome | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0007965 | Chediak-Higashi Syndrome | LTC4S | 4056 | leukotriene C4 synthase | Q16873 |
| C0007965 | Chediak-Higashi Syndrome | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0007971 | Cheilitis | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
