perimembraneous ventricular septal defect Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010418
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Genes

45 gene mutations causing the perimembraneous ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACKR3 atypical chemokine receptor 3
ADAM19 ADAM metallopeptidase domain 19
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
ARMC4 armadillo repeat containing 4
BMP4 bone morphogenetic protein 4
CCDC39 coiled-coil domain containing 39
CREBBP CREB binding protein
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR4 chemokine (C-X-C motif) receptor 4
DAW1 dynein assembly factor with WDR repeat domains 1
DCTN5 dynactin 5 (p25)
DNM2 dynamin 2
ECE1 endothelin converting enzyme 1
EDNRA endothelin receptor type A
EP300 E1A binding protein p300
FBLN1 fibulin 1
FGF19 fibroblast growth factor 19
FGFR2 fibroblast growth factor receptor 2
FGFRL1 fibroblast growth factor receptor-like 1
GBX2 gastrulation brain homeobox 2
GPC3 glypican 3
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
LRP2 low density lipoprotein receptor-related protein 2
LTBP1 latent transforming growth factor beta binding protein 1
MKL2 MKL/myocardin-like 2
MYH10 myosin, heavy chain 10, non-muscle
NTF3 neurotrophin 3
PDS5A PDS5 cohesin associated factor A
PDS5B PDS5 cohesin associated factor B
PRICKLE1 prickle homolog 1 (Drosophila)
RERE arginine-glutamic acid dipeptide (RE) repeats
ROR2 receptor tyrosine kinase-like orphan receptor 2
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
SMAD6 SMAD family member 6
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SOX4 SRY (sex determining region Y)-box 4
SUFU suppressor of fused homolog (Drosophila)
TBX1 T-box 1
TBX5 T-box 5
TGFB2 transforming growth factor, beta 2
WHSC1 Wolf-Hirschhorn syndrome candidate 1
ZBTB14 zinc finger and BTB domain containing 14