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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 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0036857 | Severe intellectual disability | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0036857 | Severe intellectual disability | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0036857 | Severe intellectual disability | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0036857 | Severe intellectual disability | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0036857 | Severe intellectual disability | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0036857 | Severe intellectual disability | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
| C0036857 | Severe intellectual disability | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0036857 | Severe intellectual disability | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| 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 |
