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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 |
|---|---|---|---|---|---|
| C3714756 | Intellectual Disability | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C3714756 | Intellectual Disability | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C3714756 | Intellectual Disability | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C3714756 | Intellectual Disability | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C3714756 | Intellectual Disability | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C3714756 | Intellectual Disability | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C3714756 | Intellectual Disability | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C3714756 | Intellectual Disability | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C3714756 | Intellectual Disability | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C3714756 | Intellectual Disability | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
| C3714756 | Intellectual Disability | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C3714756 | Intellectual Disability | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C3714756 | Intellectual Disability | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C3714756 | Intellectual Disability | CAT | 847 | catalase | P04040 |
| C3714756 | Intellectual Disability | TNFRSF10C | 8794 | TNF receptor superfamily member 10c | O14798 |
| C3714756 | Intellectual Disability | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C3714756 | Intellectual Disability | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C3714756 | Intellectual Disability | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C3714756 | Intellectual Disability | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C3714756 | Intellectual Disability | PLCH2 | 9651 | phospholipase C eta 2 | O75038 |
| C3714756 | Intellectual Disability | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C3714756 | Intellectual Disability | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C3714756 | Intellectual Disability | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C3714756 | Intellectual Disability | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C3714756 | Intellectual Disability | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
