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 |
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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 |
C4041558 | Cone-rod synaptic disorder, congenital nonprogressive | NYX | 60506 | nyctalopin | Q9GZU5 |
C1863634 | Cone-Rod Dystrophy 7 | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
C3489532 | Cone-Rod Dystrophy 2 | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
C3489532 | Cone-Rod Dystrophy 2 | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
C3489532 | Cone-Rod Dystrophy 2 | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
C3489532 | Cone-Rod Dystrophy 2 | CD38 | 952 | CD38 molecule | P28907 |
C3489532 | Cone-Rod Dystrophy 2 | ALOX12 | 239 | arachidonate 12-lipoxygenase, 12S type | P18054 |
C3489532 | Cone-Rod Dystrophy 2 | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
C3489532 | Cone-Rod Dystrophy 2 | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
C3489532 | Cone-Rod Dystrophy 2 | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
C3489532 | Cone-Rod Dystrophy 2 | LGALS1 | 3956 | galectin 1 | P09382 |
C3489532 | Cone-Rod Dystrophy 2 | CNTN3 | 5067 | contactin 3 | Q9P232 |
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Last updated: August 19, 2024