complete atrioventricular septal defect Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A congenital heart defect characteizred by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. (Human Phenotype Ontology, HP_0001674)
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22 gene mutations causing the complete atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
CFC1 cripto, FRL-1, cryptic family 1
CYR61 cysteine-rich, angiogenic inducer, 61
DNAH5 dynein, axonemal, heavy chain 5
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
GATA4 GATA binding protein 4
GDF1 growth differentiation factor 1
GPC3 glypican 3
HSPB11 heat shock protein family B (small), member 11
IFT172 intraflagellar transport 172
LEFTY1 left-right determination factor 1
LEFTY2 left-right determination factor 2
MEGF8 multiple EGF-like-domains 8
PCSK5 proprotein convertase subtilisin/kexin type 5
PDS5B PDS5 cohesin associated factor B
PLXND1 plexin D1
RXRA retinoid X receptor, alpha
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SRSF10 serine/arginine-rich splicing factor 10
TGFB2 transforming growth factor, beta 2
ZFPM2 zinc finger protein, FOG family member 2