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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 |
|---|---|---|---|---|---|
| C0000768 | Congenital Abnormality | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0000768 | Congenital Abnormality | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C0000768 | Congenital Abnormality | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0000768 | Congenital Abnormality | CAT | 847 | catalase | P04040 |
| C0000768 | Congenital Abnormality | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C0000768 | Congenital Abnormality | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0000768 | Congenital Abnormality | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0000768 | Congenital Abnormality | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0000768 | Congenital Abnormality | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0000768 | Congenital Abnormality | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0000768 | Congenital Abnormality | GPC5 | 2262 | glypican 5 | P78333 |
| C0000768 | Congenital Abnormality | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0000768 | Congenital Abnormality | AKR1C1 | 1645 | aldo-keto reductase family 1 member C1 | Q04828 |
| C0000768 | Congenital Abnormality | GCK | 2645 | glucokinase | P35557 |
| C0000768 | Congenital Abnormality | GPC3 | 2719 | glypican 3 | P51654 |
| C0000768 | Congenital Abnormality | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0000768 | Congenital Abnormality | PDHA2 | 5161 | pyruvate dehydrogenase E1 subunit alpha 2 | P29803 |
| C0000768 | Congenital Abnormality | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0000768 | Congenital Abnormality | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0000768 | Congenital Abnormality | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0000768 | Congenital Abnormality | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C0000768 | Congenital Abnormality | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0000768 | Congenital Abnormality | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0000768 | Congenital Abnormality | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0000768 | Congenital Abnormality | ALDH1A3 | 220 | aldehyde dehydrogenase 1 family member A3 | P47895 |
