atrial septal defect Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Xref MGI. (Human Disease Ontology, DOID_1882)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010403
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Genes

66 gene mutations causing the atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACKR3 atypical chemokine receptor 3
ACVR2B activin A receptor, type IIB
ADAM19 ADAM metallopeptidase domain 19
ATE1 arginyltransferase 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMP4 bone morphogenetic protein 4
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
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CNTRL centriolin
CREBBP CREB binding protein
CYR61 cysteine-rich, angiogenic inducer, 61
DAND5 DAN domain family member 5, BMP antagonist
DHRS3 dehydrogenase/reductase (SDR family) member 3
DNAH5 dynein, axonemal, heavy chain 5
DRC1 dynein regulatory complex subunit 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EP300 E1A binding protein p300
EPHA3 EPH receptor A3
FBLN1 fibulin 1
FGF19 fibroblast growth factor 19
FLNA filamin A, alpha
FREM2 FRAS1 related extracellular matrix protein 2
GATA4 GATA binding protein 4
GDF1 growth differentiation factor 1
GJA5 gap junction protein, alpha 5, 40kDa
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
IFT74 intraflagellar transport 74
IFT88 intraflagellar transport 88
KAT6A K(lysine) acetyltransferase 6A
KLF3 Kruppel-like factor 3 (basic)
LEFTY1 left-right determination factor 1
LTBP1 latent transforming growth factor beta binding protein 1
MEGF8 multiple EGF-like-domains 8
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NODAL nodal growth differentiation factor
NOS3 nitric oxide synthase 3 (endothelial cell)
NTF3 neurotrophin 3
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
OSR1 odd-skipped related transciption factor 1
PCSK5 proprotein convertase subtilisin/kexin type 5
PCSK6 proprotein convertase subtilisin/kexin type 6
PDS5A PDS5 cohesin associated factor A
PDS5B PDS5 cohesin associated factor B
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PLAGL1 pleiomorphic adenoma gene-like 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RYR1 ryanodine receptor 1 (skeletal)
SEMA3D sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D
SIRT1 sirtuin 1
SOS1 son of sevenless homolog 1 (Drosophila)
SRSF10 serine/arginine-rich splicing factor 10
TBX5 T-box 5
TGFB2 transforming growth factor, beta 2
TLL1 tolloid-like 1
WHSC1 Wolf-Hirschhorn syndrome candidate 1
ZFPM2 zinc finger protein, FOG family member 2
ZIC3 Zic family member 3