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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 |
|---|---|---|---|---|---|
| C0282160 | Aplasia Cutis Congenita | DGKZ | 8525 | diacylglycerol kinase zeta | Q13574 |
| C0282160 | Aplasia Cutis Congenita | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C0282207 | Cronkhite-Canada Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0282488 | Interstitial Cystitis | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0282488 | Interstitial Cystitis | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0282488 | Interstitial Cystitis | DCN | 1634 | decorin | P07585 |
| C0282488 | Interstitial Cystitis | INPP5D | 3635 | inositol polyphosphate-5-phosphatase D | Q92835 |
| C0282488 | Interstitial Cystitis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0282488 | Interstitial Cystitis | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0282488 | Interstitial Cystitis | UMOD | 7369 | uromodulin | P07911 |
| C0282488 | Interstitial Cystitis | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0282488 | Interstitial Cystitis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0282488 | Interstitial Cystitis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0282488 | Interstitial Cystitis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0282492 | Sneddon Syndrome | ARSA | 410 | arylsulfatase A | P15289 |
| C0282513 | Primary Progressive Aphasia (disorder) | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0282513 | Primary Progressive Aphasia (disorder) | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0282513 | Primary Progressive Aphasia (disorder) | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0282513 | Primary Progressive Aphasia (disorder) | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0282513 | Primary Progressive Aphasia (disorder) | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0282513 | Primary Progressive Aphasia (disorder) | PRNP | 5621 | prion protein | P04156 |
| C0282513 | Primary Progressive Aphasia (disorder) | CAT | 847 | catalase | P04040 |
| C0282513 | Primary Progressive Aphasia (disorder) | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0282513 | Primary Progressive Aphasia (disorder) | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0282513 | Primary Progressive Aphasia (disorder) | PRNP | 5621 | prion protein | F7VJQ1 |
