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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 |
|---|---|---|---|---|---|
| C0477548 | Other chondrocalcinosis | KL | 9365 | klotho | Q9UEF7 |
| C0478099 | Other deletions of part of a chromosome | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0348484 | Other disorders of branched-chain amino-acid metabolism | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0029607 | Other emphysema | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C0029607 | Other emphysema | KL | 9365 | klotho | Q9UEF7 |
| C0029607 | Other emphysema | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0348626 | Other specified cardiac arrhythmias | GPD1L | 23171 | glycerol-3-phosphate dehydrogenase 1 like | Q8N335 |
| C0348626 | Other specified cardiac arrhythmias | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0029799 | Other specified forms of pleural effusion, except tuberculous | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0029799 | Other specified forms of pleural effusion, except tuberculous | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0029799 | Other specified forms of pleural effusion, except tuberculous | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0029810 | Other specified iron deficiency anemias | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0029823 | Other specified peritonitis | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0348489 | Other sphingolipidosis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0029866 | Other ureteric obstruction | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0029866 | Other ureteric obstruction | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0029866 | Other ureteric obstruction | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0029866 | Other ureteric obstruction | CAT | 847 | catalase | P04040 |
| C0029866 | Other ureteric obstruction | CYP2J2 | 1573 | cytochrome P450 family 2 subfamily J member 2 | P51589 |
| C0029866 | Other ureteric obstruction | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0029878 | Otitis Externa | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0029882 | Otitis Media | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0029882 | Otitis Media | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0029882 | Otitis Media | GALNT14 | 79623 | polypeptide N-acetylgalactosaminyltransferase 14 | Q96FL9 |
| C0029882 | Otitis Media | IDUA | 3425 | alpha-L-iduronidase | P35475 |
