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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 |
|---|---|---|---|---|---|
| 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 |
| C0017205 | Gaucher Disease | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0017205 | Gaucher Disease | MAN1A1 | 4121 | mannosidase alpha class 1A member 1 | P33908 |
| C0017205 | Gaucher Disease | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0017205 | Gaucher Disease | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0017205 | Gaucher Disease | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0017205 | Gaucher Disease | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0017205 | Gaucher Disease | UGT1A5 | 54579 | UDP glucuronosyltransferase family 1 member A5 | P35504 |
| C0017205 | Gaucher Disease | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| C0017205 | Gaucher Disease | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0017205 | Gaucher Disease | UGT1A3 | 54659 | UDP glucuronosyltransferase family 1 member A3 | P35503 |
| C0017205 | Gaucher Disease | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0017205 | Gaucher Disease | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0017205 | Gaucher Disease | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0017205 | Gaucher Disease | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0017205 | Gaucher Disease | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0017205 | Gaucher Disease | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C0017205 | Gaucher Disease | SI | 6476 | sucrase-isomaltase | P14410 |
| C0017205 | Gaucher Disease | MGAM | 8972 | maltase-glucoamylase | O43451 |
