cyanosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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 http://compbio.charite.de/hpoweb/showterm?id=HP:0000961
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Genes

45 genes associated with the cyanosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACVRL1 activin A receptor type II-like 1
AGXT alanine-glyoxylate aminotransferase
C5ORF42 chromosome 5 open reading frame 42
CALR calreticulin
CAV1 caveolin 1, caveolae protein, 22kDa
CCR6 chemokine (C-C motif) receptor 6
CDKL5 cyclin-dependent kinase-like 5
CECR1 cat eye syndrome chromosome region, candidate 1
CEP126 centrosomal protein 126kDa
COL3A1 collagen, type III, alpha 1
CTGF connective tissue growth factor
CYB5A cytochrome b5 type A (microsomal)
CYB5R3 cytochrome b5 reductase 3
DNASE1L3 deoxyribonuclease I-like 3
ENG endoglin
FOXG1 forkhead box G1
FUCA1 fucosidase, alpha-L- 1, tissue
GJA1 gap junction protein, alpha 1, 43kDa
HBA1 hemoglobin, alpha 1
HBB hemoglobin, beta
HBG2 hemoglobin, gamma G
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IRF5 interferon regulatory factor 5
KIAA0319L KIAA0319-like
LBR lamin B receptor
LMNA lamin A/C
MECP2 methyl CpG binding protein 2
MVK mevalonate kinase
NTNG1 netrin G1
PAX3 paired box 3
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
SCN2A sodium channel, voltage gated, type II alpha subunit
SEPT9 septin 9
SFTPB surfactant protein B
SFTPC surfactant protein C
SH2B3 SH2B adaptor protein 3
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
TGFB1 transforming growth factor, beta 1
THPO thrombopoietin
TNXB tenascin XB
TREX1 three prime repair exonuclease 1
ZMPSTE24 zinc metallopeptidase STE24