atrioventricular septal defect Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. (Human Disease Ontology, DOID_0050651)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010412
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Genes

57 gene mutations causing the atrioventricular septal defect 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
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