abnormal lung vasculature morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the blood vessels of the lung (Mammalian Phenotype Ontology, MP_0004007)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004007
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Genes

70 gene mutations causing the abnormal lung vasculature morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ACE2 angiotensin I converting enzyme 2
ADAM17 ADAM metallopeptidase domain 17
ADIPOQ adiponectin, C1Q and collagen domain containing
ADORA2A adenosine A2a receptor
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
CAV1 caveolin 1, caveolae protein, 22kDa
CREB1 cAMP responsive element binding protein 1
DHCR7 7-dehydrocholesterol reductase
DNM1L dynamin 1-like
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EPAS1 endothelial PAS domain protein 1
EPHA3 EPH receptor A3
ERRFI1 ERBB receptor feedback inhibitor 1
FBN1 fibrillin 1
FENDRR FOXF1 adjacent non-coding developmental regulatory RNA
FGF18 fibroblast growth factor 18
FOXF1 forkhead box F1
FOXM1 forkhead box M1
FRAS1 Fraser extracellular matrix complex subunit 1
FUZ fuzzy planar cell polarity protein
GATA4 GATA binding protein 4
GBE1 glucan (1,4-alpha-), branching enzyme 1
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
GYS1 glycogen synthase 1 (muscle)
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
KIFAP3 kinesin-associated protein 3
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LPL lipoprotein lipase
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MGP matrix Gla protein
MORF4L1 mortality factor 4 like 1
NKX2-1 NK2 homeobox 1
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NOS3 nitric oxide synthase 3 (endothelial cell)
NPAS3 neuronal PAS domain protein 3
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
PDLIM7 PDZ and LIM domain 7 (enigma)
PECAM1 platelet/endothelial cell adhesion molecule 1
PIKFYVE phosphoinositide kinase, FYVE finger containing
PLVAP plasmalemma vesicle associated protein
PNPLA2 patatin-like phospholipase domain containing 2
PRRX1 paired related homeobox 1
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTRF polymerase I and transcript release factor
RARB retinoic acid receptor, beta
RSPO2 R-spondin 2
RUNX2 runt-related transcription factor 2
SDPR serum deprivation response
SFTPC surfactant protein C
SHH sonic hedgehog
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLIT3 slit homolog 3 (Drosophila)
SMAD9 SMAD family member 9
TCF21 transcription factor 21
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFB3 transforming growth factor, beta 3
THBS1 thrombospondin 1
TMEM38B transmembrane protein 38B
TNNI3 troponin I type 3 (cardiac)
TOMM5 translocase of outer mitochondrial membrane 5 homolog (yeast)
TRIP11 thyroid hormone receptor interactor 11
VEGFA vascular endothelial growth factor A
VIP vasoactive intestinal peptide
WNT2 wingless-type MMTV integration site family member 2
WNT7B wingless-type MMTV integration site family, member 7B
WWTR1 WW domain containing transcription regulator 1