Cyanosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. (Human Phenotype Ontology, HP_0000961)
External Link https://www.disgenet.org/browser/0/1/0/C0578475
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Genes

13 genes associated with the disease Cyanosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
EPO erythropoietin
GATA6 GATA binding protein 6
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
PTK2B protein tyrosine kinase 2 beta
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
TNF tumor necrosis factor
TRAP triiodothyronine receptor auxiliary protein
VEGFA vascular endothelial growth factor A