abnormal heart development Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description aberrant formation or incomplete differentiation of the heart (Mammalian Phenotype Ontology, MP_0000267)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000267
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Genes

271 gene mutations causing the abnormal heart development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACKR3 atypical chemokine receptor 3
ACTC1 actin, alpha, cardiac muscle 1
ACVR2B activin A receptor, type IIB
ACVRL1 activin A receptor type II-like 1
ADAM10 ADAM metallopeptidase domain 10
ADAM19 ADAM metallopeptidase domain 19
ADGRG6 adhesion G protein-coupled receptor G6
ADRBK1 adrenergic, beta, receptor kinase 1
AKAP13 A kinase (PRKA) anchor protein 13
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ANGPT1 angiopoietin 1
ANKRD17 ankyrin repeat domain 17
APC adenomatous polyposis coli
APH1A APH1A gamma secretase subunit
APLNR apelin receptor
ARID3B AT rich interactive domain 3B (BRIGHT-like)
AXIN1 axin 1
AXIN2 axin 2
BCAR1 breast cancer anti-estrogen resistance 1
BCOR BCL6 corepressor
BMP10 bone morphogenetic protein 10
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BRCA1 breast cancer 1, early onset
C2CD3 C2 calcium-dependent domain containing 3
CAPNS1 calpain, small subunit 1
CBS cystathionine-beta-synthase
CCDC160 coiled-coil domain containing 160
CCM2 cerebral cavernous malformation 2
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CDH5 cadherin 5, type 2 (vascular endothelium)
CFC1 cripto, FRL-1, cryptic family 1
CFLAR CASP8 and FADD-like apoptosis regulator
CHD7 chromodomain helicase DNA binding protein 7
CHMP5 charged multivesicular body protein 5
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLUAP1 clusterin associated protein 1
COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
CRB2 crumbs family member 2
CREBBP CREB binding protein
CSK c-src tyrosine kinase
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CTBP2 C-terminal binding protein 2
CXADR coxsackie virus and adenovirus receptor
CYP26A1 cytochrome P450, family 26, 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
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DISP1 dispatched homolog 1 (Drosophila)
DLC1 DLC1 Rho GTPase activating protein
DLL1 delta-like 1 (Drosophila)
DLL4 delta-like 4 (Drosophila)
DNAH5 dynein, axonemal, heavy chain 5
DNM1L dynamin 1-like
DUSP6 dual specificity phosphatase 6
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
ECE1 endothelin converting enzyme 1
EDNRA endothelin receptor type A
EFNB2 ephrin-B2
EGLN1 egl-9 family hypoxia-inducible factor 1
ENG endoglin
EP300 E1A binding protein p300
EPB41L5 erythrocyte membrane protein band 4.1 like 5
EPHA3 EPH receptor A3
EPHB4 EPH receptor B4
EPO erythropoietin
EPOR erythropoietin receptor
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERBB4 erb-b2 receptor tyrosine kinase 4
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ETV2 ets variant 2
F2R coagulation factor II (thrombin) receptor
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FGF8 fibroblast growth factor 8 (androgen-induced)
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FHOD3 formin homology 2 domain containing 3
FLRT3 fibronectin leucine rich transmembrane protein 3
FLT1 fms-related tyrosine kinase 1
FN1 fibronectin 1
FOXA2 forkhead box A2
FOXH1 forkhead box H1
FOXM1 forkhead box M1
FOXO1 forkhead box O1
FOXP1 forkhead box P1
FOXP4 forkhead box P4
FURIN furin (paired basic amino acid cleaving enzyme)
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GJC1 gap junction protein, gamma 1, 45kDa
GRB2 growth factor receptor-bound protein 2
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HAND1 heart and neural crest derivatives expressed 1
HAND2 heart and neural crest derivatives expressed 2
HAS2 hyaluronan synthase 2
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
HGS hepatocyte growth factor-regulated tyrosine kinase substrate
HHEX hematopoietically expressed homeobox
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIRA histone cell cycle regulator
HSP90B1 heat shock protein 90kDa beta (Grp94), member 1
HSPB11 heat shock protein family B (small), member 11
HSPG2 heparan sulfate proteoglycan 2
HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT57 intraflagellar transport 57
IFT88 intraflagellar transport 88
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
INTU inturned planar cell polarity protein
INVS inversin
ISL1 ISL LIM homeobox 1
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
JARID2 jumonji, AT rich interactive domain 2
JUP junction plakoglobin
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KDM6A lysine (K)-specific demethylase 6A
KIAA0586 KIAA0586
KIF3A kinesin family member 3A
KIF3B kinesin family member 3B
KLF3 Kruppel-like factor 3 (basic)
KMT2B lysine (K)-specific methyltransferase 2B
KRIT1 KRIT1, ankyrin repeat containing
LBX1 ladybird homeobox 1
LMNA lamin A/C
MAP2K5 mitogen-activated protein kinase kinase 5
MAP3K3 mitogen-activated protein kinase kinase kinase 3
MAPK14 mitogen-activated protein kinase 14
MAPK7 mitogen-activated protein kinase 7
MB myoglobin
MBD4 methyl-CpG binding domain protein 4
MDM4 MDM4, p53 regulator
MECOM MDS1 and EVI1 complex locus
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MEGF8 multiple EGF-like-domains 8
MESP1 mesoderm posterior basic helix-loop-helix transcription factor 1
MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MIB1 mindbomb E3 ubiquitin protein ligase 1
MIXL1 Mix paired-like homeobox
MKS1 Meckel syndrome, type 1
MLST8 MTOR associated protein, LST8 homolog (S. cerevisiae)
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
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
MYL7 myosin, light chain 7, regulatory
NCKAP1 NCK-associated protein 1
NCOA6 nuclear receptor coactivator 6
NCOR2 nuclear receptor corepressor 2
NCSTN nicastrin
NF1 neurofibromin 1
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NKX2-5 NK2 homeobox 5
NODAL nodal growth differentiation factor
NOTCH1 notch 1
NOV nephroblastoma overexpressed
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NR2F2 nuclear receptor subfamily 2, group F, member 2
NRG1 neuregulin 1
NTF3 neurotrophin 3
OSR1 odd-skipped related transciption factor 1
OVOL2 ovo-like zinc finger 2
PARD3 par-3 family cell polarity regulator
PARVA parvin, alpha
PAXIP1 PAX interacting (with transcription-activation domain) protein 1
PCSK6 proprotein convertase subtilisin/kexin type 6
PDPK1 3-phosphoinositide dependent protein kinase 1
PDPN podoplanin
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)
POFUT1 protein O-fucosyltransferase 1
POGLUT1 protein O-glucosyltransferase 1
PPARG peroxisome proliferator-activated receptor gamma
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCI protein kinase C, iota
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTK2 protein tyrosine kinase 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN12 protein tyrosine phosphatase, non-receptor type 12
PTPRB protein tyrosine phosphatase, receptor type, B
PTPRJ protein tyrosine phosphatase, receptor type, J
PXN paxillin
QKI QKI, KH domain containing, RNA binding
RAPGEF2 Rap guanine nucleotide exchange factor (GEF) 2
RBL2 retinoblastoma-like 2
RDH10 retinol dehydrogenase 10 (all-trans)
RERE arginine-glutamic acid dipeptide (RE) repeats
RFWD2 ring finger and WD repeat domain 2, E3 ubiquitin protein ligase
RFX3 regulatory factor X, 3 (influences HLA class II expression)
RHEB Ras homolog enriched in brain
RPL38 ribosomal protein L38
RPS6KA6 ribosomal protein S6 kinase, 90kDa, polypeptide 6
RTTN rotatin
RXRA retinoid X receptor, alpha
RYR1 ryanodine receptor 1 (skeletal)
RYR2 ryanodine receptor 2 (cardiac)
SALL4 spalt-like transcription factor 4
SENP2 SUMO1/sentrin/SMT3 specific peptidase 2
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SHOX2 short stature homeobox 2
SIRT1 sirtuin 1
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SMAD2 SMAD family member 2
SMAD5 SMAD family member 5
SMAD7 SMAD family member 7
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SMO smoothened, frizzled class receptor
SOX11 SRY (sex determining region Y)-box 11
SOX4 SRY (sex determining region Y)-box 4
SPEG SPEG complex locus
SPEN spen family transcriptional repressor
SSR1 signal sequence receptor, alpha
STRAP serine/threonine kinase receptor associated protein
SUFU suppressor of fused homolog (Drosophila)
T T, brachyury homolog (mouse)
TAL1 T-cell acute lymphocytic leukemia 1
TBX1 T-box 1
TBX2 T-box 2
TBX20 T-box 20
TBX3 T-box 3
TBX5 T-box 5
TBX6 T-box 6
TDG thymine-DNA glycosylase
TDGF1 teratocarcinoma-derived growth factor 1
TEK TEK tyrosine kinase, endothelial
TFAM transcription factor A, mitochondrial
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TH tyrosine hydroxylase
THBD thrombomodulin
TLL1 tolloid-like 1
TMED2 transmembrane emp24 domain trafficking protein 2
TMOD1 tropomodulin 1
TNNT2 troponin T type 2 (cardiac)
TSC1 tuberous sclerosis 1
TTBK2 tau tubulin kinase 2
TTN titin
USP8 ubiquitin specific peptidase 8
USP9X ubiquitin specific peptidase 9, X-linked
VANGL2 VANGL planar cell polarity protein 2
VCAN versican
VCL vinculin
VEGFA vascular endothelial growth factor A
WASF2 WAS protein family, member 2
WDPCP WD repeat containing planar cell polarity effector
WDR35 WD repeat domain 35
WT1 Wilms tumor 1
XBP1 X-box binding protein 1
ZFP36L1 ZFP36 ring finger protein-like 1
ZFPM2 zinc finger protein, FOG family member 2
ZIC3 Zic family member 3