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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 |
|---|---|---|---|---|---|
| C0002895 | Anemia, Sickle Cell | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0002895 | Anemia, Sickle Cell | KLRC3 | 3823 | killer cell lectin like receptor C3 | Q07444 |
| C0002895 | Anemia, Sickle Cell | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C0002895 | Anemia, Sickle Cell | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0002895 | Anemia, Sickle Cell | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0002895 | Anemia, Sickle Cell | PRNP | 5621 | prion protein | F7VJQ1 |
| C0002902 | Anencephaly | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0002902 | Anencephaly | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0002902 | Anencephaly | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0002902 | Anencephaly | EFNA5 | 1946 | ephrin A5 | P52803 |
| C0002940 | Aneurysm | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0002940 | Aneurysm | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0162635 | Angelman Syndrome | PRNP | 5621 | prion protein | P04156 |
| C0162635 | Angelman Syndrome | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0162635 | Angelman Syndrome | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0162635 | Angelman Syndrome | PRNP | 5621 | prion protein | F7VJQ1 |
| C0002963 | Angina Pectoris, Variant | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0002963 | Angina Pectoris, Variant | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0002963 | Angina Pectoris, Variant | KL | 9365 | klotho | Q9UEF7 |
| C0002963 | Angina Pectoris, Variant | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0002963 | Angina Pectoris, Variant | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0002963 | Angina Pectoris, Variant | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0002965 | Angina, Unstable | ARSA | 410 | arylsulfatase A | P15289 |
| C0002965 | Angina, Unstable | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0002965 | Angina, Unstable | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
