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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 |
|---|---|---|---|---|---|
| C0020981 | Angioimmunoblastic Lymphadenopathy | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0020951 | Immune Complex Diseases | MASP2 | 10747 | mannan binding lectin serine peptidase 2 | O00187 |
| C0020951 | Immune Complex Diseases | CD22 | 933 | CD22 molecule | P20273 |
| C0020877 | Ileitis | LYZ | 4069 | lysozyme | P61626 |
| C0020877 | Ileitis | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0020877 | Ileitis | INPP5D | 3635 | inositol polyphosphate-5-phosphatase D | Q92835 |
| C0020877 | Ileitis | GPX2 | 2877 | glutathione peroxidase 2 | P18283 |
| C0020758 | Congenital ichthyosis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0020758 | Congenital ichthyosis | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0020758 | Congenital ichthyosis | AMY2B | 280 | amylase alpha 2B | P19961 |
| C0020758 | Congenital ichthyosis | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0020758 | Congenital ichthyosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0020758 | Congenital ichthyosis | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C0020758 | Congenital ichthyosis | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0020758 | Congenital ichthyosis | STS | 412 | steroid sulfatase | P08842 |
| C0020758 | Congenital ichthyosis | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0020758 | Congenital ichthyosis | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0020758 | Congenital ichthyosis | SULT2B1 | 6820 | sulfotransferase family 2B member 1 | O00204 |
| C0020758 | Congenital ichthyosis | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0020758 | Congenital ichthyosis | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
