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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 |
|---|---|---|---|---|---|
| C0013080 | Down Syndrome | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| 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 |
| C4552092 | Dowling-Degos disease 1 | POFUT1 | 23509 | protein O-fucosyltransferase 1 | Q9H488 |
| C4552092 | Dowling-Degos disease 1 | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C1956412 | Double Outlet Right Ventricle, Subpulmonary VSD | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| 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 |
| 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 |
| C0265213 | Distal arthrogryposis syndrome | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0265213 | Distal arthrogryposis syndrome | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| C0265213 | Distal arthrogryposis syndrome | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1704380 | Distal Renal Tubular Acidosis | CANX | 821 | calnexin | P27824 |
