abnormal atrioventricular septum morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the wall of the heart that separates the right atrium and left ventricle; and is located just above the septal cusp of the tricuspid valve (Mammalian Phenotype Ontology, MP_0010592)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010592
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Genes

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

Symbol Name
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
AP2B1 adaptor-related protein complex 2, beta 1 subunit
BICC1 BicC family RNA binding protein 1
BMP4 bone morphogenetic protein 4
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
C1ORF127 chromosome 1 open reading frame 127
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
CCDC39 coiled-coil domain containing 39
CEP290 centrosomal protein 290kDa
CFC1 cripto, FRL-1, cryptic family 1
CYR61 cysteine-rich, angiogenic inducer, 61
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYX1C1 dyslexia susceptibility 1 candidate 1
EP300 E1A binding protein p300
EPHA3 EPH receptor A3
FGF19 fibroblast growth factor 19
FUZ fuzzy planar cell polarity protein
GATA4 GATA binding protein 4
GDF1 growth differentiation factor 1
GPC3 glypican 3
HSPB11 heat shock protein family B (small), member 11
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT74 intraflagellar transport 74
KAT6A K(lysine) acetyltransferase 6A
KIF7 kinesin family member 7
LEFTY1 left-right determination factor 1
LEFTY2 left-right determination factor 2
LRP1 low density lipoprotein receptor-related protein 1
MEGF8 multiple EGF-like-domains 8
MYH10 myosin, heavy chain 10, non-muscle
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NEK8 NIMA-related kinase 8
NXN nucleoredoxin
PCSK5 proprotein convertase subtilisin/kexin type 5
PDS5A PDS5 cohesin associated factor A
PDS5B PDS5 cohesin associated factor B
PEPD peptidase D
PITX2 paired-like homeodomain 2
PKD2 polycystic kidney disease 2 (autosomal dominant)
PLXND1 plexin D1
PRDM1 PR domain containing 1, with ZNF domain
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RXRA retinoid X receptor, alpha
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SNX17 sorting nexin 17
SRSF10 serine/arginine-rich splicing factor 10
TBC1D32 TBC1 domain family, member 32
TGFB2 transforming growth factor, beta 2
TLL1 tolloid-like 1
TMEM67 transmembrane protein 67
WDPCP WD repeat containing planar cell polarity effector
ZBTB14 zinc finger and BTB domain containing 14
ZFPM2 zinc finger protein, FOG family member 2