abnormal heart layer morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the laminar structure of the heart (Mammalian Phenotype Ontology, MP_0010545)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010545
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Genes

318 gene mutations causing the abnormal heart layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABI1 abl-interactor 1
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACKR3 atypical chemokine receptor 3
ACTC1 actin, alpha, cardiac muscle 1
ACVRL1 activin A receptor type II-like 1
ADAM17 ADAM metallopeptidase domain 17
ADGRG6 adhesion G protein-coupled receptor G6
ADM adrenomedullin
ADRBK1 adrenergic, beta, receptor kinase 1
AGTR2 angiotensin II receptor, type 2
AKAP12 A kinase (PRKA) anchor protein 12
AKAP13 A kinase (PRKA) anchor protein 13
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ANGPT1 angiopoietin 1
ANKRD17 ankyrin repeat domain 17
ARID1A AT rich interactive domain 1A (SWI-like)
ARID3A AT rich interactive domain 3A (BRIGHT-like)
ASL argininosuccinate lyase
ATE1 arginyltransferase 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
B9D1 B9 protein domain 1
BAG3 BCL2-associated athanogene 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCAR1 breast cancer anti-estrogen resistance 1
BCL6 B-cell CLL/lymphoma 6
BIN1 bridging integrator 1
BMP10 bone morphogenetic protein 10
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BTAF1 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CALCRL calcitonin receptor-like
CALR calreticulin
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASQ2 calsequestrin 2 (cardiac muscle)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CENPJ centromere protein J
CFLAR CASP8 and FADD-like apoptosis regulator
CHD2 chromodomain helicase DNA binding protein 2
CHD7 chromodomain helicase DNA binding protein 7
CISD2 CDGSH iron sulfur domain 2
CLU clusterin
COL1A1 collagen, type I, alpha 1
COL3A1 collagen, type III, alpha 1
COX1
CREBBP CREB binding protein
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CSRP2 cysteine and glycine-rich protein 2
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTNNA3 catenin (cadherin-associated protein), alpha 3
CXADR coxsackie virus and adenovirus receptor
CYBB cytochrome b-245, beta polypeptide
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
DES desmin
DLL4 delta-like 4 (Drosophila)
DMD dystrophin
DNAH11 dynein, axonemal, heavy chain 11
DNM1L dynamin 1-like
DTNA dystrobrevin, alpha
EFNB2 ephrin-B2
EGLN1 egl-9 family hypoxia-inducible factor 1
EMD emerin
ENG endoglin
EP300 E1A binding protein p300
EPHB4 EPH receptor B4
EPO erythropoietin
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERBB4 erb-b2 receptor tyrosine kinase 4
ESR2 estrogen receptor 2 (ER beta)
FADD Fas (TNFRSF6)-associated via death domain
FAS Fas cell surface death receptor
FBLN1 fibulin 1
FENDRR FOXF1 adjacent non-coding developmental regulatory RNA
FES FES proto-oncogene, tyrosine kinase
FGF16 fibroblast growth factor 16
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFRL1 fibroblast growth factor receptor-like 1
FHOD3 formin homology 2 domain containing 3
FKBP1A FK506 binding protein 1A, 12kDa
FLRT2 fibronectin leucine rich transmembrane protein 2
FN1 fibronectin 1
FOXC2 forkhead box C2
FOXH1 forkhead box H1
FOXM1 forkhead box M1
FOXO1 forkhead box O1
FOXP1 forkhead box P1
FXR1 fragile X mental retardation, autosomal homolog 1
GAA glucosidase, alpha; acid
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GBE1 glucan (1,4-alpha-), branching enzyme 1
GJA1 gap junction protein, alpha 1, 43kDa
GJC1 gap junction protein, gamma 1, 45kDa
GYS1 glycogen synthase 1 (muscle)
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HAND1 heart and neural crest derivatives expressed 1
HAND2 heart and neural crest derivatives expressed 2
HAS2 hyaluronan synthase 2
HBEGF heparin-binding EGF-like growth factor
HDAC2 histone deacetylase 2
HEXIM1 hexamethylene bis-acetamide inducible 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HHEX hematopoietically expressed homeobox
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIF3A hypoxia inducible factor 3, alpha subunit
HMGA1 high mobility group AT-hook 1
HMOX1 heme oxygenase 1
HOPX HOP homeobox
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
HSPB8 heat shock 22kDa protein 8
HSPG2 heparan sulfate proteoglycan 2
HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled
IDUA iduronidase, alpha-L-
IER3 immediate early response 3
IGF2R insulin-like growth factor 2 receptor
IGHMBP2 immunoglobulin mu binding protein 2
ITGAV integrin, alpha V
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
JARID2 jumonji, AT rich interactive domain 2
JMJD6 jumonji domain containing 6
JPH2 junctophilin 2
JUP junction plakoglobin
KDM6A lysine (K)-specific demethylase 6A
KIF3A kinesin family member 3A
KIFAP3 kinesin-associated protein 3
KLF15 Kruppel-like factor 15
KLF3 Kruppel-like factor 3 (basic)
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA4 laminin, alpha 4
LARGE like-glycosyltransferase
LATS2 large tumor suppressor kinase 2
LDB3 LIM domain binding 3
LEP leptin
LEPR leptin receptor
LMNA lamin A/C
LRP2 low density lipoprotein receptor-related protein 2
LTBP4 latent transforming growth factor beta binding protein 4
MAP1S microtubule-associated protein 1S
MAP2K5 mitogen-activated protein kinase kinase 5
MAP3K3 mitogen-activated protein kinase kinase kinase 3
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK1 mitogen-activated protein kinase 1
MAPK11 mitogen-activated protein kinase 11
MAPK14 mitogen-activated protein kinase 14
MAPK7 mitogen-activated protein kinase 7
MAPK8 mitogen-activated protein kinase 8
MAPK9 mitogen-activated protein kinase 9
MARVELD2 MARVEL domain containing 2
MB myoglobin
MECOM MDS1 and EVI1 complex locus
MED1 mediator complex subunit 1
MED24 mediator complex subunit 24
MED30 mediator complex subunit 30
MEF2C myocyte enhancer factor 2C
MEGF8 multiple EGF-like-domains 8
MEN1 multiple endocrine neoplasia I
MEOX2 mesenchyme homeobox 2
MEST mesoderm specific transcript
MFSD8 major facilitator superfamily domain containing 8
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MIR208A microRNA 208a
MKL1 megakaryoblastic leukemia (translocation) 1
MKL2 MKL/myocardin-like 2
MORF4L1 mortality factor 4 like 1
MOSPD3 motile sperm domain containing 3
MPZL3 myelin protein zero-like 3
MYBPC3 myosin binding protein C, cardiac
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH10 myosin, heavy chain 10, non-muscle
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYL7 myosin, light chain 7, regulatory
MYLK3 myosin light chain kinase 3
MYO18B myosin XVIIIB
MYOZ2 myozenin 2
NACA nascent polypeptide-associated complex alpha subunit
NCOA6 nuclear receptor coactivator 6
NEK6 NIMA-related kinase 6
NF1 neurofibromin 1
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive
NGF nerve growth factor (beta polypeptide)
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NODAL nodal growth differentiation factor
NOS2 nitric oxide synthase 2, inducible
NOTCH1 notch 1
NOTCH2 notch 2
NPPB natriuretic peptide B
NPR1 natriuretic peptide receptor 1
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NR2F2 nuclear receptor subfamily 2, group F, member 2
NRG1 neuregulin 1
NTF3 neurotrophin 3
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OVOL2 ovo-like zinc finger 2
PAK4 p21 protein (Cdc42/Rac)-activated kinase 4
PDCD10 programmed cell death 10
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDLIM3 PDZ and LIM domain 3
PDPN podoplanin
PEPD peptidase D
PHIP pleckstrin homology domain interacting protein
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIKFYVE phosphoinositide kinase, FYVE finger containing
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKP2 plakophilin 2
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLEC plectin
PLIN4 perilipin 4
PMM2 phosphomannomutase 2
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
POR P450 (cytochrome) oxidoreductase
PPARA peroxisome proliferator-activated receptor alpha
PPARG peroxisome proliferator-activated receptor gamma
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRDM6 PR domain containing 6
PRKCA protein kinase C, alpha
PTCD2 pentatricopeptide repeat domain 2
PTK2 protein tyrosine kinase 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPRB protein tyrosine phosphatase, receptor type, B
PTPRJ protein tyrosine phosphatase, receptor type, J
QKI QKI, KH domain containing, RNA binding
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RASIP1 Ras interacting protein 1
RB1CC1 RB1-inducible coiled-coil 1
RBL2 retinoblastoma-like 2
RBM20 RNA binding motif protein 20
RBP4 retinol binding protein 4, plasma
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RCAN1 regulator of calcineurin 1
RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2
RXRA retinoid X receptor, alpha
RYR2 ryanodine receptor 2 (cardiac)
SALL4 spalt-like transcription factor 4
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SENP2 SUMO1/sentrin/SMT3 specific peptidase 2
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SGPL1 sphingosine-1-phosphate lyase 1
SGSH N-sulfoglucosamine sulfohydrolase
SH3PXD2B SH3 and PX domains 2B
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SHH sonic hedgehog
SIRT7 sirtuin 7
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SMAD6 SMAD family member 6
SMAD7 SMAD family member 7
SMYD1 SET and MYND domain containing 1
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SOS1 son of sevenless homolog 1 (Drosophila)
SPTA1 spectrin, alpha, erythrocytic 1
SPTAN1 spectrin, alpha, non-erythrocytic 1
SPTB spectrin, beta, erythrocytic
SPTBN1 spectrin, beta, non-erythrocytic 1
SRSF10 serine/arginine-rich splicing factor 10
SUFU suppressor of fused homolog (Drosophila)
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TBX18 T-box 18
TCF21 transcription factor 21
TDG thymine-DNA glycosylase
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TEK TEK tyrosine kinase, endothelial
TERC telomerase RNA component
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFBR3 transforming growth factor, beta receptor III
TGM2 transglutaminase 2
THBD thrombomodulin
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1
TK2 thymidine kinase 2, mitochondrial
TMEM100 transmembrane protein 100
TMOD1 tropomodulin 1
TMSB4X thymosin beta 4, X-linked
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TREX1 three prime repair exonuclease 1
TRIM54 tripartite motif containing 54
TRPM2 transient receptor potential cation channel, subfamily M, member 2
TSC2 tuberous sclerosis 2
TTN titin
TXNRD2 thioredoxin reductase 2
UBE4B ubiquitination factor E4B
UBP1 upstream binding protein 1 (LBP-1a)
UTF1 undifferentiated embryonic cell transcription factor 1
VAV2 vav 2 guanine nucleotide exchange factor
VAV3 vav 3 guanine nucleotide exchange factor
VCAM1 vascular cell adhesion molecule 1
VCL vinculin
VEGFA vascular endothelial growth factor A
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
WASF2 WAS protein family, member 2
WNK1 WNK lysine deficient protein kinase 1
WT1 Wilms tumor 1
XBP1 X-box binding protein 1
XIRP1 xin actin binding repeat containing 1
XIRP2 xin actin binding repeat containing 2
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZFP36L1 ZFP36 ring finger protein-like 1
ZFPM2 zinc finger protein, FOG family member 2