abnormal vein morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the blood vessels that carry blood towards the heart (Mammalian Phenotype Ontology, MP_0002725)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002725
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Genes

88 gene mutations causing the abnormal vein morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVRL1 activin A receptor type II-like 1
ADM adrenomedullin
AHR aryl hydrocarbon receptor
AIP aryl hydrocarbon receptor interacting protein
ANGPTL4 angiopoietin-like 4
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
ARMC4 armadillo repeat containing 4
ARNT aryl hydrocarbon receptor nuclear translocator
BRAF B-Raf proto-oncogene, serine/threonine kinase
CBS cystathionine-beta-synthase
CCDC39 coiled-coil domain containing 39
CCM2 cerebral cavernous malformation 2
CDH5 cadherin 5, type 2 (vascular endothelium)
CEP290 centrosomal protein 290kDa
CFC1 cripto, FRL-1, cryptic family 1
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CXADR coxsackie virus and adenovirus receptor
DAW1 dynein assembly factor with WDR repeat domains 1
DLL4 delta-like 4 (Drosophila)
DNAAF3 dynein, axonemal, assembly factor 3
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DRC1 dynein regulatory complex subunit 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYX1C1 dyslexia susceptibility 1 candidate 1
EFNB2 ephrin-B2
EPHA3 EPH receptor A3
EPHB4 EPH receptor B4
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FLT4 fms-related tyrosine kinase 4
FOXC1 forkhead box C1
FOXM1 forkhead box M1
FOXN1 forkhead box N1
FURIN furin (paired basic amino acid cleaving enzyme)
FUZ fuzzy planar cell polarity protein
GDF1 growth differentiation factor 1
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
HDAC7 histone deacetylase 7
HMOX2 heme oxygenase 2
HOXA3 homeobox A3
HSPG2 heparan sulfate proteoglycan 2
IFT27 intraflagellar transport 27
IFT74 intraflagellar transport 74
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
INVS inversin
LEFTY1 left-right determination factor 1
LEFTY2 left-right determination factor 2
MED1 mediator complex subunit 1
MGP matrix Gla protein
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYO18B myosin XVIIIB
NF1 neurofibromin 1
NOV nephroblastoma overexpressed
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NR2F2 nuclear receptor subfamily 2, group F, member 2
NTF3 neurotrophin 3
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
OSR1 odd-skipped related transciption factor 1
PAM peptidylglycine alpha-amidating monooxygenase
PAX3 paired box 3
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIKFYVE phosphoinositide kinase, FYVE finger containing
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PITX2 paired-like homeodomain 2
PKD2 polycystic kidney disease 2 (autosomal dominant)
PLG plasminogen
PLXND1 plexin D1
PTPRB protein tyrosine phosphatase, receptor type, B
RBPJ recombination signal binding protein for immunoglobulin kappa J region
SEMA3D sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SHH sonic hedgehog
TAL1 T-cell acute lymphocytic leukemia 1
TBC1D32 TBC1 domain family, member 32
TBX18 T-box 18
TBX3 T-box 3
TGFB3 transforming growth factor, beta 3
TLL1 tolloid-like 1
UBE4B ubiquitination factor E4B
VEGFA vascular endothelial growth factor A
WASF2 WAS protein family, member 2
WNK1 WNK lysine deficient protein kinase 1
ZIC3 Zic family member 3