abnormal atrioventricular valve morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the valves that gate the flow of blood from the atria into the ventricles (Mammalian Phenotype Ontology, MP_0002745)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002745
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Genes

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

Symbol Name
ADAM17 ADAM metallopeptidase domain 17
ADAM19 ADAM metallopeptidase domain 19
ARSB arylsulfatase B
CC2D2A coiled-coil and C2 domain containing 2A
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CNTRL centriolin
COL18A1 collagen, type XVIII, alpha 1
CREBBP CREB binding protein
CXCR4 chemokine (C-X-C motif) receptor 4
CYR61 cysteine-rich, angiogenic inducer, 61
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DOCK1 dedicator of cytokinesis 1
EFNA1 ephrin-A1
EFNB2 ephrin-B2
ERBB3 erb-b2 receptor tyrosine kinase 3
FBN1 fibrillin 1
FGFRL1 fibroblast growth factor receptor-like 1
FLNA filamin A, alpha
GATA4 GATA binding protein 4
GJA5 gap junction protein, alpha 5, 40kDa
GPC3 glypican 3
HBEGF heparin-binding EGF-like growth factor
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HHEX hematopoietically expressed homeobox
IDUA iduronidase, alpha-L-
IGF2R insulin-like growth factor 2 receptor
KL klotho
LEFTY1 left-right determination factor 1
LEFTY2 left-right determination factor 2
MEGF8 multiple EGF-like-domains 8
MMP21 matrix metallopeptidase 21
NF1 neurofibromin 1
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NTF3 neurotrophin 3
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
PAX3 paired box 3
PDLIM7 PDZ and LIM domain 7 (enigma)
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RXRA retinoid X receptor, alpha
SH3PXD2B SH3 and PX domains 2B
SIRT1 sirtuin 1
SMAD6 SMAD family member 6
TGFB2 transforming growth factor, beta 2
TLL1 tolloid-like 1
ZFPM2 zinc finger protein, FOG family member 2