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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 |
|---|---|---|---|---|---|
| C3203102 | Idiopathic pulmonary arterial hypertension | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C3203102 | Idiopathic pulmonary arterial hypertension | PFKFB3 | 5209 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | Q16875 |
| C3203102 | Idiopathic pulmonary arterial hypertension | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3203102 | Idiopathic pulmonary arterial hypertension | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C3203102 | Idiopathic pulmonary arterial hypertension | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C3203102 | Idiopathic pulmonary arterial hypertension | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C3203102 | Idiopathic pulmonary arterial hypertension | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C3203102 | Idiopathic pulmonary arterial hypertension | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C3203102 | Idiopathic pulmonary arterial hypertension | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C3203102 | Idiopathic pulmonary arterial hypertension | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
| C3203102 | Idiopathic pulmonary arterial hypertension | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C3203102 | Idiopathic pulmonary arterial hypertension | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C3203102 | Idiopathic pulmonary arterial hypertension | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C3203102 | Idiopathic pulmonary arterial hypertension | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C3203102 | Idiopathic pulmonary arterial hypertension | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C3203102 | Idiopathic pulmonary arterial hypertension | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3203102 | Idiopathic pulmonary arterial hypertension | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C3203102 | Idiopathic pulmonary arterial hypertension | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C3203102 | Idiopathic pulmonary arterial hypertension | SFTPC | 6440 | surfactant protein C | P11686 |
| C3203102 | Idiopathic pulmonary arterial hypertension | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C3203653 | IgG4-Related Sclerosing Disease | ENO1 | 2023 | enolase 1 | P06733 |
| C3203653 | IgG4-Related Sclerosing Disease | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C3203653 | IgG4-Related Sclerosing Disease | SDC1 | 6382 | syndecan 1 | P18827 |
| C3203653 | IgG4-Related Sclerosing Disease | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C3245525 | Familial renal glucosuria | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
