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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 |
|---|---|---|---|---|---|
| C0404521 | Infective vaginitis | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0404521 | Infective vaginitis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0403825 | Globozoospermia | DPY19L2 | 283417 | dpy-19 like 2 | Q6NUT2 |
| C0403810 | Oligosynaptic Infertility | PDHA2 | 5161 | pyruvate dehydrogenase E1 subunit alpha 2 | P29803 |
| 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 |
| C0403719 | Uric acid urolithiasis | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0403719 | Uric acid urolithiasis | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0403555 | Ochoa syndrome | HPSE | 10855 | heparanase | Q9Y251 |
| C0403555 | Ochoa syndrome | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| 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 |
| 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 |
| C0403447 | Chronic Kidney Insufficiency | ARSA | 410 | arylsulfatase A | P15289 |
| C0403447 | Chronic Kidney Insufficiency | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0403447 | Chronic Kidney Insufficiency | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0403447 | Chronic Kidney Insufficiency | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0403447 | Chronic Kidney Insufficiency | CHGA | 1113 | chromogranin A | P10645 |
| C0403447 | Chronic Kidney Insufficiency | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0403447 | Chronic Kidney Insufficiency | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
| C0403447 | Chronic Kidney Insufficiency | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
