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 |
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DisGeNET | July 29, 2024 |
Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0017495 | Gerstmann-Straussler-Scheinker Disease | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
C0017495 | Gerstmann-Straussler-Scheinker Disease | PRNP | 5621 | prion protein | P04156 |
C0017495 | Gerstmann-Straussler-Scheinker Disease | SI | 6476 | sucrase-isomaltase | P14410 |
C0017495 | Gerstmann-Straussler-Scheinker Disease | MGAM | 8972 | maltase-glucoamylase | O43451 |
C0017495 | Gerstmann-Straussler-Scheinker Disease | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
C0017495 | Gerstmann-Straussler-Scheinker Disease | MDH1 | 4190 | malate dehydrogenase 1 | P40925 |
C0017495 | Gerstmann-Straussler-Scheinker Disease | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
C0017495 | Gerstmann-Straussler-Scheinker Disease | PRNP | 5621 | prion protein | F7VJQ1 |
C0017411 | Female Genital Diseases | LGALS9 | 3965 | galectin 9 | O00182 |
C0017411 | Female Genital Diseases | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
C0017411 | Female Genital Diseases | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
C0017411 | Female Genital Diseases | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
C0017411 | Female Genital Diseases | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
C0017205 | Gaucher Disease | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
C0017205 | Gaucher Disease | GBA | 2629 | glucosylceramidase beta | P04062 |
C0017205 | Gaucher Disease | GALC | 2581 | galactosylceramidase | P54803 |
C0017205 | Gaucher Disease | GLA | 2717 | galactosidase alpha | P06280 |
C0017205 | Gaucher Disease | GLB1 | 2720 | galactosidase beta 1 | P16278 |
C0017205 | Gaucher Disease | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
C0017205 | Gaucher Disease | IDUA | 3425 | alpha-L-iduronidase | P35475 |
C0017205 | Gaucher Disease | ARSA | 410 | arylsulfatase A | P15289 |
C0017205 | Gaucher Disease | PSAP | 5660 | prosaposin | P07602 |
C0017205 | Gaucher Disease | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
C0017205 | Gaucher Disease | OGA | 10724 | O-GlcNAcase | O60502 |
C0017205 | Gaucher Disease | CHIT1 | 1118 | chitinase 1 | Q13231 |
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Last updated: August 19, 2024