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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 |
|---|---|---|---|---|---|
| C0302280 | Adrenogenital Syndrome | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C0302280 | Adrenogenital Syndrome | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0302280 | Adrenogenital Syndrome | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0302280 | Adrenogenital Syndrome | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0302280 | Adrenogenital Syndrome | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0302314 | Xanthoma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0302314 | Xanthoma | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0302314 | Xanthoma | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0302314 | Xanthoma | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0302314 | Xanthoma | GPC1 | 2817 | glypican 1 | P35052 |
| C0302314 | Xanthoma | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0302314 | Xanthoma | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0302314 | Xanthoma | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0302362 | Brucella melitensis infection | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0302362 | Brucella melitensis infection | OXSM | 54995 | 3-oxoacyl-ACP synthase, mitochondrial | Q9NWU1 |
| C0302362 | Brucella melitensis infection | CD14 | 929 | CD14 molecule | P08571 |
| C0302362 | Brucella melitensis infection | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0302592 | Cervix carcinoma | B3GNT3 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | Q9Y2A9 |
| C0302592 | Cervix carcinoma | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C0302592 | Cervix carcinoma | GALNT7 | 51809 | polypeptide N-acetylgalactosaminyltransferase 7 | Q86SF2 |
| C0302592 | Cervix carcinoma | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
| C0302592 | Cervix carcinoma | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C0302592 | Cervix carcinoma | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0302592 | Cervix carcinoma | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C0302592 | Cervix carcinoma | B4GALT3 | 8703 | beta-1,4-galactosyltransferase 3 | O60512 |
