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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 |
|---|---|---|---|---|---|
| C0346421 | Chronic eosinophilic leukemia | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0346421 | Chronic eosinophilic leukemia | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0018203 | Chronic granulomatous disease | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0018203 | Chronic granulomatous disease | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0018203 | Chronic granulomatous disease | EFNA2 | 1943 | ephrin A2 | O43921 |
| C0018203 | Chronic granulomatous disease | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0018203 | Chronic granulomatous disease | CAT | 847 | catalase | P04040 |
| C3812396 | Chronic idiopathic pulmonary fibrosis | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0600040 | Chronic interstitial cystitis | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0600040 | Chronic interstitial cystitis | INPP5D | 3635 | inositol polyphosphate-5-phosphatase D | Q92835 |
| C0238304 | Chronic interstitial nephritis | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0238304 | Chronic interstitial nephritis | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0238304 | Chronic interstitial nephritis | UMOD | 7369 | uromodulin | P07911 |
| C3695318 | Chronic kidney disease due to hypertension | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C4076240 | Chronic kidney disease mineral and bone disorder | KL | 9365 | klotho | Q9UEF7 |
| C4076240 | Chronic kidney disease mineral and bone disorder | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0375359 | Chronic left-sided ulcerative colitis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0375359 | Chronic left-sided ulcerative colitis | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0375359 | Chronic left-sided ulcerative colitis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1279296 | Chronic leukemia (category) | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C0410422 | Chronic multifocal osteomyelitis | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0410422 | Chronic multifocal osteomyelitis | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0410422 | Chronic multifocal osteomyelitis | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C0410422 | Chronic multifocal osteomyelitis | LPIN2 | 9663 | lipin 2 | Q92539 |
| C1292778 | Chronic myeloproliferative disorder | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
