decreased cardiac muscle contractility Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description inability or reduced ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume (Mammalian Phenotype Ontology, MP_0005140)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005140
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Genes

130 gene mutations causing the decreased cardiac muscle contractility phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACE2 angiotensin I converting enzyme 2
ADCY6 adenylate cyclase 6
ADIPOQ adiponectin, C1Q and collagen domain containing
ADM adrenomedullin
ADRA1B adrenoceptor alpha 1B
ADRBK1 adrenergic, beta, receptor kinase 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
APLN apelin
APLNR apelin receptor
ARSB arylsulfatase B
ATE1 arginyltransferase 1
ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
BCAR1 breast cancer anti-estrogen resistance 1
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1
CASQ2 calsequestrin 2 (cardiac muscle)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CDC42 cell division cycle 42
CKM creatine kinase, muscle
CLU clusterin
CNOT3 CCR4-NOT transcription complex, subunit 3
COL1A1 collagen, type I, alpha 1
COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
CORIN corin, serine peptidase
COX7A1 cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)
CREM cAMP responsive element modulator
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTNNA3 catenin (cadherin-associated protein), alpha 3
DES desmin
DNM1L dynamin 1-like
EFNA1 ephrin-A1
EP300 E1A binding protein p300
FGF2 fibroblast growth factor 2 (basic)
FHOD3 formin homology 2 domain containing 3
FKBP1A FK506 binding protein 1A, 12kDa
GIPC1 GIPC PDZ domain containing family, member 1
GJA1 gap junction protein, alpha 1, 43kDa
GJC1 gap junction protein, gamma 1, 45kDa
GLRX3 glutaredoxin 3
HAND2 heart and neural crest derivatives expressed 2
HBEGF heparin-binding EGF-like growth factor
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HOPX HOP homeobox
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSPB8 heat shock 22kDa protein 8
IDUA iduronidase, alpha-L-
IER3 immediate early response 3
IL18 interleukin 18
IL6 interleukin 6
IRX4 iroquois homeobox 4
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
IVNS1ABP influenza virus NS1A binding protein
KLF15 Kruppel-like factor 15
KLK3 kallikrein-related peptidase 3
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA4 laminin, alpha 4
LAMP2 lysosomal-associated membrane protein 2
LDB3 LIM domain binding 3
LEP leptin
LEPR leptin receptor
LIMS2 LIM and senescent cell antigen-like domains 2
LMNA lamin A/C
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK8 mitogen-activated protein kinase 8
MB myoglobin
MED30 mediator complex subunit 30
MEF2C myocyte enhancer factor 2C
MIR208A microRNA 208a
MIR22 microRNA 22
MMP9 matrix metallopeptidase 9
MYBPC3 myosin binding protein C, cardiac
MYH10 myosin, heavy chain 10, non-muscle
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYLK3 myosin light chain kinase 3
MYOZ2 myozenin 2
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NEK6 NIMA-related kinase 6
NGF nerve growth factor (beta polypeptide)
NKX2-5 NK2 homeobox 5
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NOS1 nitric oxide synthase 1 (neuronal)
NOS3 nitric oxide synthase 3 (endothelial cell)
NRG1 neuregulin 1
PAX3 paired box 3
PDLIM3 PDZ and LIM domain 3
PLAT plasminogen activator, tissue
PLCE1 phospholipase C, epsilon 1
PLIN5 perilipin 5
PNPLA2 patatin-like phospholipase domain containing 2
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM20 RNA binding motif protein 20
RXRA retinoid X receptor, alpha
RYR2 ryanodine receptor 2 (cardiac)
S100A1 S100 calcium binding protein A1
SCN5A sodium channel, voltage gated, type V alpha subunit
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SMAD7 SMAD family member 7
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SPEG SPEG complex locus
SPP1 secreted phosphoprotein 1
SRL sarcalumenin
TBX20 T-box 20
THBS4 thrombospondin 4
THRA thyroid hormone receptor, alpha
TIMP3 TIMP metallopeptidase inhibitor 3
TNNT2 troponin T type 2 (cardiac)
TPH1 tryptophan hydroxylase 1
TRPM2 transient receptor potential cation channel, subfamily M, member 2
TTN titin
TXNIP thioredoxin interacting protein
VAV3 vav 3 guanine nucleotide exchange factor
VCL vinculin
VEGFA vascular endothelial growth factor A
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
XIRP1 xin actin binding repeat containing 1