abnormal heart ventricle wall thickness Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the depth of the cardiac wall of the heart ventricles (Mammalian Phenotype Ontology, MP_0020135)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0020135
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Genes

110 gene mutations causing the abnormal heart ventricle wall thickness phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACE2 angiotensin I converting enzyme 2
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
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
BCL6 B-cell CLL/lymphoma 6
BIN1 bridging integrator 1
CALR calreticulin
CAPN2 calpain 2, (m/II) large subunit
CASQ2 calsequestrin 2 (cardiac muscle)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
CRK v-crk avian sarcoma virus CT10 oncogene homolog
DLC1 DLC1 Rho GTPase activating protein
EP300 E1A binding protein p300
EPAS1 endothelial PAS domain protein 1
EPO erythropoietin
EPOR erythropoietin receptor
ERBB2 erb-b2 receptor tyrosine kinase 2
FENDRR FOXF1 adjacent non-coding developmental regulatory RNA
FGF16 fibroblast growth factor 16
FGFR2 fibroblast growth factor receptor 2
FKBP1A FK506 binding protein 1A, 12kDa
FKBP1B FK506 binding protein 1B, 12.6 kDa
GAB1 GRB2-associated binding protein 1
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GJA1 gap junction protein, alpha 1, 43kDa
GRHL2 grainyhead-like 2 (Drosophila)
GYS1 glycogen synthase 1 (muscle)
HAND1 heart and neural crest derivatives expressed 1
HDAC2 histone deacetylase 2
HDAC7 histone deacetylase 7
HEXIM1 hexamethylene bis-acetamide inducible 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HHEX hematopoietically expressed homeobox
HOPX HOP homeobox
HOXA13 homeobox A13
HOXB4 homeobox B4
IDUA iduronidase, alpha-L-
IGF2R insulin-like growth factor 2 receptor
IGHMBP2 immunoglobulin mu binding protein 2
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
JUN jun proto-oncogene
KDM6A lysine (K)-specific demethylase 6A
KLK3 kallikrein-related peptidase 3
KRAS Kirsten rat sarcoma viral oncogene homolog
LBX1 ladybird homeobox 1
LDB3 LIM domain binding 3
MED1 mediator complex subunit 1
MED24 mediator complex subunit 24
MEF2C myocyte enhancer factor 2C
MEN1 multiple endocrine neoplasia I
MMP9 matrix metallopeptidase 9
MOSPD3 motile sperm domain containing 3
MYBPC3 myosin binding protein C, cardiac
MYH10 myosin, heavy chain 10, non-muscle
MYH11 myosin, heavy chain 11, smooth muscle
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
NCOA6 nuclear receptor coactivator 6
NCOR2 nuclear receptor corepressor 2
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive
NKX2-5 NK2 homeobox 5
NOS3 nitric oxide synthase 3 (endothelial cell)
NRG1 neuregulin 1
PAK4 p21 protein (Cdc42/Rac)-activated kinase 4
PAX3 paired box 3
PDCD1 programmed cell death 1
PDGFA platelet-derived growth factor alpha polypeptide
PDLIM3 PDZ and LIM domain 3
PEPD peptidase D
PHC1 polyhomeotic homolog 1 (Drosophila)
PLVAP plasmalemma vesicle associated protein
PNMT phenylethanolamine N-methyltransferase
PPARG peroxisome proliferator-activated receptor gamma
PTCD2 pentatricopeptide repeat domain 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RB1CC1 RB1-inducible coiled-coil 1
RHEB Ras homolog enriched in brain
RXRA retinoid X receptor, alpha
RYR2 ryanodine receptor 2 (cardiac)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
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
SMAD7 SMAD family member 7
SMTN smoothelin
SOD2 superoxide dismutase 2, mitochondrial
SPEG SPEG complex locus
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TBX20 T-box 20
TCEB3 transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TNNI3 troponin I type 3 (cardiac)
TRIM54 tripartite motif containing 54
TRIP11 thyroid hormone receptor interactor 11
TXNRD2 thioredoxin reductase 2
VEGFA vascular endothelial growth factor A
XBP1 X-box binding protein 1
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZFPM2 zinc finger protein, FOG family member 2
ZMPSTE24 zinc metallopeptidase STE24