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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 |
|---|---|---|---|---|---|
| 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 |
| C0012814 | Colonic Diverticulitis | SDC1 | 6382 | syndecan 1 | P18827 |
| 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 |
| C0013080 | Down Syndrome | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0013080 | Down Syndrome | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0013080 | Down Syndrome | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0013080 | Down Syndrome | ARSA | 410 | arylsulfatase A | P15289 |
| C0013080 | Down Syndrome | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0013080 | Down Syndrome | PARP4 | 143 | poly(ADP-ribose) polymerase family member 4 | Q9UKK3 |
| C0013080 | Down Syndrome | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0013080 | Down Syndrome | ENO2 | 2026 | enolase 2 | P09104 |
| C0013080 | Down Syndrome | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0013080 | Down Syndrome | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0013080 | Down Syndrome | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C0013080 | Down Syndrome | ENOSF1 | 55556 | enolase superfamily member 1 | Q7L5Y1 |
| C0013080 | Down Syndrome | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0013080 | Down Syndrome | CD38 | 952 | CD38 molecule | P28907 |
| C0013080 | Down Syndrome | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0013080 | Down Syndrome | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C0013080 | Down Syndrome | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
