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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 |
|---|---|---|---|---|---|
| C0162530 | Porphyria, Erythropoietic | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0162530 | Porphyria, Erythropoietic | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0162530 | Porphyria, Erythropoietic | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C0162533 | Porphyrias, Hepatic | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0235752 | Port-Wine Stain | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0235752 | Port-Wine Stain | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0235752 | Port-Wine Stain | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0235752 | Port-Wine Stain | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0235752 | Port-Wine Stain | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0020541 | Portal Hypertension | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0020541 | Portal Hypertension | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0020541 | Portal Hypertension | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0020541 | Portal Hypertension | LGALS9 | 3965 | galectin 9 | O00182 |
| C0020541 | Portal Hypertension | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0020541 | Portal Hypertension | CALR | 811 | calreticulin | P27797 |
| C0020541 | Portal Hypertension | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0020541 | Portal Hypertension | LGALS3 | 3958 | galectin 3 | P17931 |
| C0020541 | Portal Hypertension | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
| C0020541 | Portal Hypertension | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0020541 | Portal Hypertension | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C0020541 | Portal Hypertension | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0020541 | Portal Hypertension | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0020541 | Portal Hypertension | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
| C0020541 | Portal Hypertension | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0020541 | Portal Hypertension | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
