abnormal interventricular septum morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the wall between the two lower chambers of the heart; the ventricular septum consists of a very small membranous portion just beneath the aortic valve, and a large thick muscular portion consisting of three sections including the inlet septum, the trabecular septum, and the outlet septum (Mammalian Phenotype Ontology, MP_0000281)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000281
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Genes

209 gene mutations causing the abnormal interventricular septum morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACKR3 atypical chemokine receptor 3
ACVR2B activin A receptor, type IIB
ADAM17 ADAM metallopeptidase domain 17
ADAM19 ADAM metallopeptidase domain 19
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
ADRBK1 adrenergic, beta, receptor kinase 1
AGTR2 angiotensin II receptor, type 2
AIP aryl hydrocarbon receptor interacting protein
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
AP2B1 adaptor-related protein complex 2, beta 1 subunit
ARID1A AT rich interactive domain 1A (SWI-like)
ARMC4 armadillo repeat containing 4
ATE1 arginyltransferase 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
B9D1 B9 protein domain 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BICC1 BicC family RNA binding protein 1
BMP4 bone morphogenetic protein 4
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
CALR calreticulin
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
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
CHD7 chromodomain helicase DNA binding protein 7
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CNTRL centriolin
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR4 chemokine (C-X-C motif) receptor 4
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
CYR61 cysteine-rich, angiogenic inducer, 61
DAAM1 dishevelled associated activator of morphogenesis 1
DAND5 DAN domain family member 5, BMP antagonist
DAW1 dynein assembly factor with WDR repeat domains 1
DCTN5 dynactin 5 (p25)
DES desmin
DHRS3 dehydrogenase/reductase (SDR family) member 3
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNM2 dynamin 2
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK1 dedicator of cytokinesis 1
DRC1 dynein regulatory complex subunit 1
DVL2 dishevelled segment polarity protein 2
DYX1C1 dyslexia susceptibility 1 candidate 1
ECE1 endothelin converting enzyme 1
EDN1 endothelin 1
EDNRA endothelin receptor type A
EFNA1 ephrin-A1
EGLN1 egl-9 family hypoxia-inducible factor 1
EP300 E1A binding protein p300
EPO erythropoietin
EPOR erythropoietin receptor
FBLN1 fibulin 1
FENDRR FOXF1 adjacent non-coding developmental regulatory RNA
FES FES proto-oncogene, tyrosine kinase
FGF19 fibroblast growth factor 19
FGFR2 fibroblast growth factor receptor 2
FGFRL1 fibroblast growth factor receptor-like 1
FKBP1A FK506 binding protein 1A, 12kDa
FKBP1B FK506 binding protein 1B, 12.6 kDa
FLNA filamin A, alpha
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXP1 forkhead box P1
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GBE1 glucan (1,4-alpha-), branching enzyme 1
GBX2 gastrulation brain homeobox 2
GDF1 growth differentiation factor 1
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GPC3 glypican 3
GYS1 glycogen synthase 1 (muscle)
HAND1 heart and neural crest derivatives expressed 1
HAND2 heart and neural crest derivatives expressed 2
HDAC2 histone deacetylase 2
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HEG1 heart development protein with EGF-like domains 1
HEXIM1 hexamethylene bis-acetamide inducible 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HHEX hematopoietically expressed homeobox
HOXA1 homeobox A1
HOXB4 homeobox B4
HSPB11 heat shock protein family B (small), member 11
HSPB8 heat shock 22kDa protein 8
IDUA iduronidase, alpha-L-
IFT88 intraflagellar transport 88
IGF2R insulin-like growth factor 2 receptor
IL6 interleukin 6
INS insulin
JARID2 jumonji, AT rich interactive domain 2
JMJD6 jumonji domain containing 6
JUN jun proto-oncogene
KAT6A K(lysine) acetyltransferase 6A
KDM6A lysine (K)-specific demethylase 6A
KIF7 kinesin family member 7
KLF3 Kruppel-like factor 3 (basic)
KLK3 kallikrein-related peptidase 3
LBX1 ladybird homeobox 1
LEFTY1 left-right determination factor 1
LIN28A lin-28 homolog A (C. elegans)
LRP2 low density lipoprotein receptor-related protein 2
LTBP1 latent transforming growth factor beta binding protein 1
LUZP1 leucine zipper protein 1
LY6E lymphocyte antigen 6 complex, locus E
MEGF8 multiple EGF-like-domains 8
MEN1 multiple endocrine neoplasia I
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MKL2 MKL/myocardin-like 2
MMP21 matrix metallopeptidase 21
MMP9 matrix metallopeptidase 9
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH10 myosin, heavy chain 10, non-muscle
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYLK3 myosin light chain kinase 3
NACA nascent polypeptide-associated complex alpha subunit
NCOR2 nuclear receptor corepressor 2
NF1 neurofibromin 1
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NODAL nodal growth differentiation factor
NOS3 nitric oxide synthase 3 (endothelial cell)
NOV nephroblastoma overexpressed
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NTF3 neurotrophin 3
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
NXN nucleoredoxin
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OSR1 odd-skipped related transciption factor 1
OVOL2 ovo-like zinc finger 2
PAX3 paired box 3
PBRM1 polybromo 1
PCSK5 proprotein convertase subtilisin/kexin type 5
PCSK6 proprotein convertase subtilisin/kexin type 6
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDLIM3 PDZ and LIM domain 3
PDPN podoplanin
PDS5A PDS5 cohesin associated factor A
PDS5B PDS5 cohesin associated factor B
PEPD peptidase D
PHC1 polyhomeotic homolog 1 (Drosophila)
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
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
PLVAP plasmalemma vesicle associated protein
PNN pinin, desmosome associated protein
PNPLA2 patatin-like phospholipase domain containing 2
PPARG peroxisome proliferator-activated receptor gamma
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRICKLE1 prickle homolog 1 (Drosophila)
PSEN1 presenilin 1
PTK7 protein tyrosine kinase 7 (inactive)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RERE arginine-glutamic acid dipeptide (RE) repeats
RFX3 regulatory factor X, 3 (influences HLA class II expression)
RIPPLY3 ripply transcriptional repressor 3
RNF4 ring finger protein 4
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RXRA retinoid X receptor, alpha
RYR2 ryanodine receptor 2 (cardiac)
SALL4 spalt-like transcription factor 4
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
SH3PXD2B SH3 and PX domains 2B
SIRT1 sirtuin 1
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SMAD6 SMAD family member 6
SMAD7 SMAD family member 7
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMYD1 SET and MYND domain containing 1
SOS1 son of sevenless homolog 1 (Drosophila)
SOX11 SRY (sex determining region Y)-box 11
SOX4 SRY (sex determining region Y)-box 4
SRSF10 serine/arginine-rich splicing factor 10
SSR1 signal sequence receptor, alpha
SUFU suppressor of fused homolog (Drosophila)
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TBX1 T-box 1
TBX3 T-box 3
TBX5 T-box 5
TCTN2 tectonic family member 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TGFBR3 transforming growth factor, beta receptor III
THBS1 thrombospondin 1
TLL1 tolloid-like 1
TNNI3 troponin I type 3 (cardiac)
TRIP11 thyroid hormone receptor interactor 11
TXNRD2 thioredoxin reductase 2
VANGL2 VANGL planar cell polarity protein 2
VCAM1 vascular cell adhesion molecule 1
VEGFA vascular endothelial growth factor A
WHSC1 Wolf-Hirschhorn syndrome candidate 1
XIRP2 xin actin binding repeat containing 2
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB14 zinc finger and BTB domain containing 14
ZFPM2 zinc finger protein, FOG family member 2
ZIC3 Zic family member 3