muscular ventricular septal defect Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle. (Human Phenotype Ontology, HP_0011623)
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31 gene mutations causing the muscular ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
ARMC4 armadillo repeat containing 4
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
CC2D2A coiled-coil and C2 domain containing 2A
CCDC39 coiled-coil domain containing 39
CFC1 cripto, FRL-1, cryptic family 1
CXCR4 chemokine (C-X-C motif) receptor 4
DNAH11 dynein, axonemal, heavy chain 11
DNM2 dynamin 2
DYX1C1 dyslexia susceptibility 1 candidate 1
FBLN1 fibulin 1
FGF19 fibroblast growth factor 19
FGFR2 fibroblast growth factor receptor 2
FGFRL1 fibroblast growth factor receptor-like 1
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
MEGF8 multiple EGF-like-domains 8
NOS3 nitric oxide synthase 3 (endothelial cell)
PAX3 paired box 3
PLAGL1 pleiomorphic adenoma gene-like 1
RXRA retinoid X receptor, alpha
SALL4 spalt-like transcription factor 4
SMAD6 SMAD family member 6
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SUFU suppressor of fused homolog (Drosophila)
TBX5 T-box 5
TGFBR3 transforming growth factor, beta receptor III
TRIP11 thyroid hormone receptor interactor 11
XIRP2 xin actin binding repeat containing 2