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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 | 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 |
| C3714756 | Intellectual Disability | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C3714756 | Intellectual Disability | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C3714756 | Intellectual Disability | GCK | 2645 | glucokinase | P35557 |
| C3714756 | Intellectual Disability | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C3714756 | Intellectual Disability | GPC3 | 2719 | glypican 3 | P51654 |
| C3714756 | Intellectual Disability | AMY1C | 278 | amylase alpha 1C | P04745 |
| C3714756 | Intellectual Disability | AMY1A | 276 | amylase alpha 1A | P04745 |
| C3714756 | Intellectual Disability | AMY1B | 277 | amylase alpha 1B | P04745 |
| C3714756 | Intellectual Disability | IDH3A | 3419 | isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | P50213 |
| C3714756 | Intellectual Disability | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C3714756 | Intellectual Disability | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C3714756 | Intellectual Disability | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3714756 | Intellectual Disability | RENBP | 5973 | renin binding protein | P51606 |
| C3714756 | Intellectual Disability | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C3714756 | Intellectual Disability | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C3714756 | Intellectual Disability | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C3714756 | Intellectual Disability | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C3714756 | Intellectual Disability | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C3714756 | Intellectual Disability | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C3714756 | Intellectual Disability | FASN | 2194 | fatty acid synthase | P49327 |
| C3714756 | Intellectual Disability | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C3714756 | Intellectual Disability | FDFT1 | 2222 | farnesyl-diphosphate farnesyltransferase 1 | P37268 |
