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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 |
|---|---|---|---|---|---|
| C0403447 | Chronic Kidney Insufficiency | GFPT2 | 9945 | glutamine-fructose-6-phosphate transaminase 2 | O94808 |
| C0403529 | Anti-Glomerular Basement Membrane Disease | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0403529 | Anti-Glomerular Basement Membrane Disease | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0403529 | Anti-Glomerular Basement Membrane Disease | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0403553 | Renal dysplasia and retinal aplasia (disorder) | UMOD | 7369 | uromodulin | P07911 |
| C0403553 | Renal dysplasia and retinal aplasia (disorder) | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0403555 | Ochoa syndrome | HPSE | 10855 | heparanase | Q9Y251 |
| C0403555 | Ochoa syndrome | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0403719 | Uric acid urolithiasis | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0403719 | Uric acid urolithiasis | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0403766 | Acquired phimosis | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0403766 | Acquired phimosis | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0403766 | Acquired phimosis | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0403766 | Acquired phimosis | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0403810 | Oligosynaptic Infertility | PDHA2 | 5161 | pyruvate dehydrogenase E1 subunit alpha 2 | P29803 |
| C0403825 | Globozoospermia | DPY19L2 | 283417 | dpy-19 like 2 | Q6NUT2 |
| C0404521 | Infective vaginitis | PSAP | 5660 | prosaposin | P07602 |
| C0404521 | Infective vaginitis | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0404521 | Infective vaginitis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0405580 | Adrenal cortical hypofunction | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0405580 | Adrenal cortical hypofunction | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0405580 | Adrenal cortical hypofunction | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0405580 | Adrenal cortical hypofunction | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0405580 | Adrenal cortical hypofunction | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0406500 | Lipodermatosclerosis | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
