abnormal mitral valve morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the valve between the left atrium and the left ventricle of the heart, and contains two cusps, the anterior cusp and the posterior cusp, attached to the outer fibrous ring (annulus) (Mammalian Phenotype Ontology, MP_0000286)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000286
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29 gene mutations causing the abnormal mitral 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
CREBBP CREB binding protein
CXCR4 chemokine (C-X-C motif) receptor 4
CYR61 cysteine-rich, angiogenic inducer, 61
DNAH11 dynein, axonemal, heavy chain 11
DOCK1 dedicator of cytokinesis 1
EFNA1 ephrin-A1
EFNB2 ephrin-B2
FBN1 fibrillin 1
FLNA filamin A, alpha
GJA5 gap junction protein, alpha 5, 40kDa
HBEGF heparin-binding EGF-like growth factor
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
IDUA iduronidase, alpha-L-
KL klotho
MEGF8 multiple EGF-like-domains 8
NF1 neurofibromin 1
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NTF3 neurotrophin 3
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
PDLIM7 PDZ and LIM domain 7 (enigma)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RXRA retinoid X receptor, alpha
SH3PXD2B SH3 and PX domains 2B
SMAD6 SMAD family member 6
TGFB2 transforming growth factor, beta 2
TLL1 tolloid-like 1