cyanosis Gene Set

Dataset MPO Gene-Phenotype 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://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001575
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Genes

181 gene mutations causing the cyanosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ACKR3 atypical chemokine receptor 3
ACVR2B activin A receptor, type IIB
ADA adenosine deaminase
ADAM17 ADAM metallopeptidase domain 17
ADRA2B adrenoceptor alpha 2B
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ALX1 ALX homeobox 1
AMER1 APC membrane recruitment protein 1
ANO1 anoctamin 1, calcium activated chloride channel
ATF2 activating transcription factor 2
ATOH1 atonal homolog 1 (Drosophila)
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
ATXN1L ataxin 1-like
C11ORF73 chromosome 11 open reading frame 73
CAPRIN1 cell cycle associated protein 1
CDK5 cyclin-dependent kinase 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CHAT choline O-acetyltransferase
CHRD chordin
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLIP3 CAP-GLY domain containing linker protein 3
CUX1 cut-like homeobox 1
CYLD cylindromatosis (turban tumor syndrome)
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
DAAM1 dishevelled associated activator of morphogenesis 1
DACH1 dachshund family transcription factor 1
DBX1 developing brain homeobox 1
DHCR7 7-dehydrocholesterol reductase
DLG1 discs, large homolog 1 (Drosophila)
DLX2 distal-less homeobox 2
DOCK1 dedicator of cytokinesis 1
DVL2 dishevelled segment polarity protein 2
DVL3 dishevelled segment polarity protein 3
ECEL1 endothelin converting enzyme-like 1
EGFR epidermal growth factor receptor
EIF4E2 eukaryotic translation initiation factor 4E family member 2
EP300 E1A binding protein p300
EPAS1 endothelial PAS domain protein 1
EPHA3 EPH receptor A3
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERRFI1 ERBB receptor feedback inhibitor 1
FBXW8 F-box and WD repeat domain containing 8
FGF18 fibroblast growth factor 18
FGF8 fibroblast growth factor 8 (androgen-induced)
FGF9 fibroblast growth factor 9
FGFRL1 fibroblast growth factor receptor-like 1
FKBP8 FK506 binding protein 8, 38kDa
FOXG1 forkhead box G1
FST follistatin
FSTL1 follistatin-like 1
FZD3 frizzled class receptor 3
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GBA glucosidase, beta, acid
GBX2 gastrulation brain homeobox 2
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1
GJA1 gap junction protein, alpha 1, 43kDa
GPR4 G protein-coupled receptor 4
GREM1 gremlin 1, DAN family BMP antagonist
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GSX2 GS homeobox 2
HDAC2 histone deacetylase 2
HOXA1 homeobox A1
HOXA5 homeobox A5
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HSPB11 heat shock protein family B (small), member 11
IFT27 intraflagellar transport 27
IGF1R insulin-like growth factor 1 receptor
IGF2R insulin-like growth factor 2 receptor
ILF3 interleukin enhancer binding factor 3, 90kDa
INPPL1 inositol polyphosphate phosphatase-like 1
INSM1 insulinoma-associated 1
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
JAG2 jagged 2
JMJD6 jumonji domain containing 6
JUN jun proto-oncogene
KAT6A K(lysine) acetyltransferase 6A
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDM6B lysine (K)-specific demethylase 6B
KIF5A kinesin family member 5A
KIFAP3 kinesin-associated protein 3
KLF7 Kruppel-like factor 7 (ubiquitous)
LDB3 LIM domain binding 3
LGR5 leucine-rich repeat containing G protein-coupled receptor 5
LHX5 LIM homeobox 5
LMF1 lipase maturation factor 1
LOX lysyl oxidase
LPCAT1 lysophosphatidylcholine acyltransferase 1
LPL lipoprotein lipase
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
LTBP1 latent transforming growth factor beta binding protein 1
LUZP1 leucine zipper protein 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAN1A2 mannosidase, alpha, class 1A, member 2
MAPK6 mitogen-activated protein kinase 6
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MEX3C mex-3 RNA binding family member C
MKS1 Meckel syndrome, type 1
MN1 meningioma (disrupted in balanced translocation) 1
MSX1 msh homeobox 1
MUSK muscle, skeletal, receptor tyrosine kinase
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYOG myogenin (myogenic factor 4)
NBEA neurobeachin
NDN necdin, melanoma antigen (MAGE) family member
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NFIB nuclear factor I/B
NOS3 nitric oxide synthase 3 (endothelial cell)
NPAS3 neuronal PAS domain protein 3
NPR2 natriuretic peptide receptor 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NRG1 neuregulin 1
OLIG3 oligodendrocyte transcription factor 3
PAX3 paired box 3
PBX3 pre-B-cell leukemia homeobox 3
PDPN podoplanin
PDS5B PDS5 cohesin associated factor B
PHF14 PHD finger protein 14
PHOX2A paired-like homeobox 2a
PHOX2B paired-like homeobox 2b
PITX2 paired-like homeodomain 2
PKDCC protein kinase domain containing, cytoplasmic
PLXND1 plexin D1
POLB polymerase (DNA directed), beta
POU2F2 POU class 2 homeobox 2
POU3F1 POU class 3 homeobox 1
PROP1 PROP paired-like homeobox 1
PROX1 prospero homeobox 1
PRRX1 paired related homeobox 1
PTF1A pancreas specific transcription factor, 1a
PTHLH parathyroid hormone-like hormone
RIPPLY3 ripply transcriptional repressor 3
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
ROR1 receptor tyrosine kinase-like orphan receptor 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RSPO2 R-spondin 2
RUNX2 runt-related transcription factor 2
RYK receptor-like tyrosine kinase
RYR1 ryanodine receptor 1 (skeletal)
SAFB scaffold attachment factor B
SCN2A sodium channel, voltage gated, type II alpha subunit
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SFTPB surfactant protein B
SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SNX5 sorting nexin 5
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX18 SRY (sex determining region Y)-box 18
SOX5 SRY (sex determining region Y)-box 5
SP7 Sp7 transcription factor
STAR steroidogenic acute regulatory protein
STIM1 stromal interaction molecule 1
STK40 serine/threonine kinase 40
SYNE1 spectrin repeat containing, nuclear envelope 1
TCF21 transcription factor 21
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TLX3 T-cell leukemia homeobox 3
TMEM38B transmembrane protein 38B
TMTC3 transmembrane and tetratricopeptide repeat containing 3
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
USP1 ubiquitin specific peptidase 1
VEGFA vascular endothelial growth factor A
WNT2 wingless-type MMTV integration site family member 2
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
YBX1 Y box binding protein 1
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
YY1 YY1 transcription factor
ZEB1 zinc finger E-box binding homeobox 1
ZNF148 zinc finger protein 148