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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 |
|---|---|---|---|---|---|
| C0085280 | Alagille Syndrome | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0085280 | Alagille Syndrome | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
| C0001889 | Akinetic Mutism | PRNP | 5621 | prion protein | P04156 |
| C0001889 | Akinetic Mutism | PRNP | 5621 | prion protein | F7VJQ1 |
| C1879312 | Agyria | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1879312 | Agyria | FKTN | 2218 | fukutin | O75072 |
| C1879312 | Agyria | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1879312 | Agyria | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1879312 | Agyria | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C1879312 | Agyria | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C1879312 | Agyria | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C1879312 | Agyria | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1879312 | Agyria | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0001824 | Agranulocytosis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0001824 | Agranulocytosis | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0001818 | Agoraphobia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0001818 | Agoraphobia | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0563625 | Agnosia for Pain | ARSA | 410 | arylsulfatase A | P15289 |
| C0563625 | Agnosia for Pain | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0563625 | Agnosia for Pain | UGT2B7 | 7364 | UDP glucuronosyltransferase family 2 member B7 | P16662 |
| C0563625 | Agnosia for Pain | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0563625 | Agnosia for Pain | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0563625 | Agnosia for Pain | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0563625 | Agnosia for Pain | GMDS | 2762 | GDP-mannose 4,6-dehydratase | O60547 |
| C0563625 | Agnosia for Pain | CAT | 847 | catalase | P04040 |
