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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 |
|---|---|---|---|---|---|
| C0015625 | Fanconi Anemia | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0015625 | Fanconi Anemia | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C0015625 | Fanconi Anemia | CAT | 847 | catalase | P04040 |
| C0015625 | Fanconi Anemia | CD33 | 945 | CD33 molecule | P20138 |
| C0015625 | Fanconi Anemia | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0015625 | Fanconi Anemia | CD48 | 962 | CD48 molecule | P09326 |
| C0015625 | Fanconi Anemia | PFKFB3 | 5209 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | Q16875 |
| C0015625 | Fanconi Anemia | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0015625 | Fanconi Anemia | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0015625 | Fanconi Anemia | ME1 | 4199 | malic enzyme 1 | P48163 |
| C0015625 | Fanconi Anemia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0015625 | Fanconi Anemia | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0015625 | Fanconi Anemia | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0015625 | Fanconi Anemia | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0015652 | Fascioliasis | PSAP | 5660 | prosaposin | P07602 |
| C0015652 | Fascioliasis | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0015652 | Fascioliasis | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0015674 | Chronic Fatigue Syndrome | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0015674 | Chronic Fatigue Syndrome | HPSE | 10855 | heparanase | Q9Y251 |
| C0015674 | Chronic Fatigue Syndrome | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0015674 | Chronic Fatigue Syndrome | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0015674 | Chronic Fatigue Syndrome | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0015674 | Chronic Fatigue Syndrome | MASP2 | 10747 | mannan binding lectin serine peptidase 2 | O00187 |
| C0015674 | Chronic Fatigue Syndrome | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0015674 | Chronic Fatigue Syndrome | FCN1 | 2219 | ficolin 1 | O00602 |
