abnormal heart valve morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the membranous folds of the heart that prevent reflux of fluid (Mammalian Phenotype Ontology, MP_0000285)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000285
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Genes

100 gene mutations causing the abnormal heart valve morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACKR3 atypical chemokine receptor 3
ADAM17 ADAM metallopeptidase domain 17
ADAM19 ADAM metallopeptidase domain 19
ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif, 9
ARSB arylsulfatase B
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLEC4E C-type lectin domain family 4, member E
CNTRL centriolin
COL18A1 collagen, type XVIII, alpha 1
COL2A1 collagen, type II, alpha 1
CREBBP CREB binding protein
CXADR coxsackie virus and adenovirus receptor
CXCR4 chemokine (C-X-C motif) receptor 4
CYR61 cysteine-rich, angiogenic inducer, 61
DCTN5 dynactin 5 (p25)
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DOCK1 dedicator of cytokinesis 1
EFNA1 ephrin-A1
EFNB2 ephrin-B2
EGFR epidermal growth factor receptor
ELN elastin
EP300 E1A binding protein p300
ERBB3 erb-b2 receptor tyrosine kinase 3
FBN1 fibrillin 1
FGFRL1 fibroblast growth factor receptor-like 1
FLNA filamin A, alpha
FOXC1 forkhead box C1
FOXM1 forkhead box M1
FREM2 FRAS1 related extracellular matrix protein 2
FUZ fuzzy planar cell polarity protein
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GPC3 glypican 3
HBEGF heparin-binding EGF-like growth factor
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HHEX hematopoietically expressed homeobox
HOXA1 homeobox A1
HOXA3 homeobox A3
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IGF2R insulin-like growth factor 2 receptor
IGHMBP2 immunoglobulin mu binding protein 2
INVS inversin
KL klotho
KLF3 Kruppel-like factor 3 (basic)
LEFTY1 left-right determination factor 1
LEFTY2 left-right determination factor 2
MEGF8 multiple EGF-like-domains 8
MGP matrix Gla protein
MMP21 matrix metallopeptidase 21
MUS81 MUS81 structure-specific endonuclease subunit
MYH10 myosin, heavy chain 10, non-muscle
NF1 neurofibromin 1
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NKX2-5 NK2 homeobox 5
NOS3 nitric oxide synthase 3 (endothelial cell)
NTF3 neurotrophin 3
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
PAX3 paired box 3
PDLIM7 PDZ and LIM domain 7 (enigma)
PHC1 polyhomeotic homolog 1 (Drosophila)
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLCE1 phospholipase C, epsilon 1
POSTN periostin, osteoblast specific factor
PRDM1 PR domain containing 1, with ZNF domain
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RBP4 retinol binding protein 4, plasma
RXRA retinoid X receptor, alpha
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
SGSH N-sulfoglucosamine sulfohydrolase
SH3PXD2B SH3 and PX domains 2B
SIRT1 sirtuin 1
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SMAD6 SMAD family member 6
SOS1 son of sevenless homolog 1 (Drosophila)
SOX4 SRY (sex determining region Y)-box 4
SPP1 secreted phosphoprotein 1
SSR1 signal sequence receptor, alpha
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TAX1BP1 Tax1 (human T-cell leukemia virus type I) binding protein 1
TBX1 T-box 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TLL1 tolloid-like 1
VANGL2 VANGL planar cell polarity protein 2
VCL vinculin
WDPCP WD repeat containing planar cell polarity effector
WRN Werner syndrome, RecQ helicase-like
ZBTB14 zinc finger and BTB domain containing 14
ZFPM2 zinc finger protein, FOG family member 2
ZMIZ1 zinc finger, MIZ-type containing 1