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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 |
|---|---|---|---|---|---|
| C0036857 | Severe intellectual disability | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0036857 | Severe intellectual disability | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0036857 | Severe intellectual disability | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0036857 | Severe intellectual disability | ACO2 | 50 | aconitase 2 | Q99798 |
| C0036857 | Severe intellectual disability | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0036857 | Severe intellectual disability | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C0036857 | Severe intellectual disability | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0036857 | Severe intellectual disability | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0036857 | Severe intellectual disability | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0036857 | Severe intellectual disability | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C0036857 | Severe intellectual disability | DGKK | 139189 | diacylglycerol kinase kappa | Q5KSL6 |
| C0036857 | Severe intellectual disability | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0036857 | Severe intellectual disability | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C0036857 | Severe intellectual disability | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0036857 | Severe intellectual disability | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0036857 | Severe intellectual disability | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0036857 | Severe intellectual disability | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
| C0036857 | Severe intellectual disability | LMAN2L | 81562 | lectin, mannose binding 2 like | Q9H0V9 |
| C0036857 | Severe intellectual disability | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0036857 | Severe intellectual disability | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0036857 | Severe intellectual disability | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0036857 | Severe intellectual disability | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0036857 | Severe intellectual disability | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0036857 | Severe intellectual disability | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0036857 | Severe intellectual disability | GCK | 2645 | glucokinase | P35557 |
