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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 | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0000768 | Congenital Abnormality | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0000768 | Congenital Abnormality | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
| C0000768 | Congenital Abnormality | GLDC | 2731 | glycine decarboxylase | P23378 |
| C0000768 | Congenital Abnormality | ARSD | 414 | arylsulfatase D | P51689 |
| C0000768 | Congenital Abnormality | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0000768 | Congenital Abnormality | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0000768 | Congenital Abnormality | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0000768 | Congenital Abnormality | PRNP | 5621 | prion protein | F7VJQ1 |
| C0000768 | Congenital Abnormality | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0000768 | Congenital Abnormality | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0000768 | Congenital Abnormality | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0000768 | Congenital Abnormality | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C0000744 | Abetalipoproteinemia | LGALS1 | 3956 | galectin 1 | P09382 |
| C0000744 | Abetalipoproteinemia | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0000744 | Abetalipoproteinemia | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0000744 | Abetalipoproteinemia | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0000744 | Abetalipoproteinemia | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
