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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 |
|---|---|---|---|---|---|
| C2711227 | Steatohepatitis | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C2711227 | Steatohepatitis | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C2711227 | Steatohepatitis | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C2711227 | Steatohepatitis | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C2711227 | Steatohepatitis | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C2711227 | Steatohepatitis | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C2711227 | Steatohepatitis | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C2711227 | Steatohepatitis | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C2711227 | Steatohepatitis | ACADL | 33 | acyl-CoA dehydrogenase long chain | P28330 |
| C2711227 | Steatohepatitis | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C2711227 | Steatohepatitis | ACLY | 47 | ATP citrate lyase | P53396 |
| C2711227 | Steatohepatitis | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
| C2711227 | Steatohepatitis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C2711227 | Steatohepatitis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C2711227 | Steatohepatitis | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C2711227 | Steatohepatitis | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C2711227 | Steatohepatitis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C2711227 | Steatohepatitis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C2712871 | Gout attack | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C2713319 | Arylsulfatase A Deficiency | ARSA | 410 | arylsulfatase A | P15289 |
| C2713321 | alpha-L-Iduronidase Deficiency | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C2713347 | 7-Dehydrocholesterol Reductase Deficiency | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C2713368 | Hematopoetic Myelodysplasia | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C2713368 | Hematopoetic Myelodysplasia | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| C2713368 | Hematopoetic Myelodysplasia | SPHK1 | 8877 | sphingosine kinase 1 | Q9NYA1 |
