decreased ventricle muscle contractility Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduced ability of the heart ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume (Mammalian Phenotype Ontology, MP_0005598)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005598
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Genes

63 gene mutations causing the decreased ventricle 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
ADRBK1 adrenergic, beta, receptor kinase 1
APLN apelin
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
CASQ2 calsequestrin 2 (cardiac muscle)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CDC42 cell division cycle 42
CNOT3 CCR4-NOT transcription complex, subunit 3
COL1A1 collagen, type I, alpha 1
COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
COX7A1 cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)
CREM cAMP responsive element modulator
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
DES desmin
DNM1L dynamin 1-like
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
HBEGF heparin-binding EGF-like growth factor
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSPB8 heat shock 22kDa protein 8
IDUA iduronidase, alpha-L-
IL18 interleukin 18
IRX4 iroquois homeobox 4
KLF15 Kruppel-like factor 15
KLK3 kallikrein-related peptidase 3
LAMA4 laminin, alpha 4
LMNA lamin A/C
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MB myoglobin
MEF2C myocyte enhancer factor 2C
MYBPC3 myosin binding protein C, cardiac
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYL2 myosin, light chain 2, regulatory, cardiac, slow
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NKX2-5 NK2 homeobox 5
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NRG1 neuregulin 1
PAX3 paired box 3
PDLIM3 PDZ and LIM domain 3
PLAT plasminogen activator, tissue
PNPLA2 patatin-like phospholipase domain containing 2
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RXRA retinoid X receptor, alpha
RYR2 ryanodine receptor 2 (cardiac)
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SOD2 superoxide dismutase 2, mitochondrial
TBX20 T-box 20
THBS4 thrombospondin 4
THRA thyroid hormone receptor, alpha
TIMP3 TIMP metallopeptidase inhibitor 3
TNNT2 troponin T type 2 (cardiac)
TTN titin
TXNIP thioredoxin interacting protein
VAV3 vav 3 guanine nucleotide exchange factor
VCL vinculin