abnormal pulmonary circulation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the circulation of blood through the lungs (Mammalian Phenotype Ontology, MP_0002295)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002295
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Genes

60 gene mutations causing the abnormal pulmonary circulation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ADM adrenomedullin
ALPL alkaline phosphatase, liver/bone/kidney
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ASH1L ash1 (absent, small, or homeotic)-like (Drosophila)
ATOX1 antioxidant 1 copper chaperone
ATP7A ATPase, Cu++ transporting, alpha polypeptide
CAV1 caveolin 1, caveolae protein, 22kDa
CHD2 chromodomain helicase DNA binding protein 2
COL1A1 collagen, type I, alpha 1
CRHR1 corticotropin releasing hormone receptor 1
CXADR coxsackie virus and adenovirus receptor
EPHA3 EPH receptor A3
F13A1 coagulation factor XIII, A1 polypeptide
FBLN5 fibulin 5
FBN1 fibrillin 1
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FOXF1 forkhead box F1
GBA glucosidase, beta, acid
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1
GPR4 G protein-coupled receptor 4
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GSN gelsolin
HEG1 heart development protein with EGF-like domains 1
HOPX HOP homeobox
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HSPG2 heparan sulfate proteoglycan 2
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
LMF1 lipase maturation factor 1
LOX lysyl oxidase
LPAR4 lysophosphatidic acid receptor 4
LPCAT1 lysophosphatidylcholine acyltransferase 1
LYZ lysozyme
MAN1A2 mannosidase, alpha, class 1A, member 2
MKL2 MKL/myocardin-like 2
MMP10 matrix metallopeptidase 10
MUT methylmalonyl CoA mutase
NFE2L2 nuclear factor, erythroid 2-like 2
NKX2-1 NK2 homeobox 1
NOS3 nitric oxide synthase 3 (endothelial cell)
NPR1 natriuretic peptide receptor 1
NTF3 neurotrophin 3
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
PDGFA platelet-derived growth factor alpha polypeptide
PLAT plasminogen activator, tissue
PRDX6 peroxiredoxin 6
PSEN2 presenilin 2
PTGER4 prostaglandin E receptor 4 (subtype EP4)
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RSPO2 R-spondin 2
SCG5 secretogranin V
SLIT3 slit homolog 3 (Drosophila)
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THBS1 thrombospondin 1
TIMP1 TIMP metallopeptidase inhibitor 1
WNT7B wingless-type MMTV integration site family, member 7B