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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 |
|---|---|---|---|---|---|
| C1276035 | Pena-Shokeir syndrome type I | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1276035 | Pena-Shokeir syndrome type I | AGRN | 375790 | agrin | O00468 |
| C1276035 | Pena-Shokeir syndrome type I | CNTN1 | 1272 | contactin 1 | Q12860 |
| C0271829 | Pendred's syndrome | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0271829 | Pendred's syndrome | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0271829 | Pendred's syndrome | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0030846 | Penile Diseases | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0030849 | Penile Neoplasms | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0853105 | Penis carcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0853105 | Penis carcinoma | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0853105 | Penis carcinoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0853105 | Penis carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0853105 | Penis carcinoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0853105 | Penis carcinoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0268162 | Pentosuria | DCXR | 51181 | dicarbonyl and L-xylulose reductase | Q7Z4W1 |
| C0014869 | Peptic Esophagitis | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0014869 | Peptic Esophagitis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0014869 | Peptic Esophagitis | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0014869 | Peptic Esophagitis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0014869 | Peptic Esophagitis | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0014869 | Peptic Esophagitis | ECI1 | 1632 | enoyl-CoA delta isomerase 1 | P42126 |
| C0014869 | Peptic Esophagitis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0014869 | Peptic Esophagitis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0014869 | Peptic Esophagitis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0030920 | Peptic Ulcer | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
