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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 |
|---|---|---|---|---|---|
| C1968741 | Glycogen Storage Disease IIIC | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C1968740 | Glycogen Storage Disease IIIB | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C1968739 | Glycogen Storage Disease IIIA | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C1961835 | Gaucher Disease, Type 1 | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C1961835 | Gaucher Disease, Type 1 | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1961835 | Gaucher Disease, Type 1 | PSAP | 5660 | prosaposin | P07602 |
| C1961835 | Gaucher Disease, Type 1 | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C1961835 | Gaucher Disease, Type 1 | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1961835 | Gaucher Disease, Type 1 | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C1961835 | Gaucher Disease, Type 1 | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | ST8SIA6 | 338596 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 | P61647 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | CHST9 | 83539 | carbohydrate sulfotransferase 9 | Q7L1S5 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | HS3ST4 | 9951 | heparan sulfate-glucosamine 3-sulfotransferase 4 | Q9Y661 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | ENO2 | 2026 | enolase 2 | P09104 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | CD38 | 952 | CD38 molecule | P28907 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
