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 |
---|---|---|---|---|---|
C0013080 | Down Syndrome | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
C0013080 | Down Syndrome | ARSD | 414 | arylsulfatase D | P51689 |
C0013080 | Down Syndrome | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
C0013080 | Down Syndrome | PIP4K2A | 5305 | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha | P48426 |
C0013080 | Down Syndrome | PRNP | 5621 | prion protein | F7VJQ1 |
C0013080 | Down Syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
C0013080 | Down Syndrome | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
C0013080 | Down Syndrome | SHMT2 | 6472 | serine hydroxymethyltransferase 2 | P34897 |
C0013080 | Down Syndrome | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
C0013080 | Down Syndrome | BST2 | 684 | bone marrow stromal cell antigen 2 | Q10589 |
C0013069 | Double Outlet Right Ventricle | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
C0013069 | Double Outlet Right Ventricle | GPC3 | 2719 | glypican 3 | P51654 |
C0013069 | Double Outlet Right Ventricle | CERS1 | 10715 | ceramide synthase 1 | P27544 |
C0012814 | Colonic Diverticulitis | SDC1 | 6382 | syndecan 1 | P18827 |
C0012813 | Diverticulitis | ARSA | 410 | arylsulfatase A | P15289 |
C0012813 | Diverticulitis | FOLR2 | 2350 | folate receptor beta | P14207 |
C0012813 | Diverticulitis | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
C0012813 | Diverticulitis | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
C0012746 | Dissociative disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
C0012739 | Disseminated Intravascular Coagulation | PC | 5091 | pyruvate carboxylase | P11498 |
C0012739 | Disseminated Intravascular Coagulation | SDC1 | 6382 | syndecan 1 | P18827 |
C0012739 | Disseminated Intravascular Coagulation | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
C0012739 | Disseminated Intravascular Coagulation | ANXA5 | 308 | annexin A5 | P08758 |
C0012739 | Disseminated Intravascular Coagulation | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
C0012739 | Disseminated Intravascular Coagulation | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
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Last updated: August 19, 2024