congestive heart failure Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. (Human Disease Ontology, DOID_6000)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006138
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Genes

47 gene mutations causing the congestive heart failure phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACE2 angiotensin I converting enzyme 2
ADIPOQ adiponectin, C1Q and collagen domain containing
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CAV1 caveolin 1, caveolae protein, 22kDa
DES desmin
DNM1L dynamin 1-like
E2F3 E2F transcription factor 3
EPAS1 endothelial PAS domain protein 1
EPHA3 EPH receptor A3
FKBP1A FK506 binding protein 1A, 12kDa
HAND2 heart and neural crest derivatives expressed 2
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
IDUA iduronidase, alpha-L-
IGF2R insulin-like growth factor 2 receptor
KDR kinase insert domain receptor
KLF3 Kruppel-like factor 3 (basic)
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MB myoglobin
MED30 mediator complex subunit 30
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MIR22 microRNA 22
MKL2 MKL/myocardin-like 2
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
MYLK3 myosin light chain kinase 3
NPR1 natriuretic peptide receptor 1
PAX3 paired box 3
PDGFB platelet-derived growth factor beta polypeptide
PNPLA2 patatin-like phospholipase domain containing 2
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PTGER4 prostaglandin E receptor 4 (subtype EP4)
RB1CC1 RB1-inducible coiled-coil 1
RXRA retinoid X receptor, alpha
SOX9 SRY (sex determining region Y)-box 9
TCAP titin-cap
TERC telomerase RNA component
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TIMP3 TIMP metallopeptidase inhibitor 3
TLL1 tolloid-like 1
TNNI3 troponin I type 3 (cardiac)
UBE4B ubiquitination factor E4B
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
ZFPM2 zinc finger protein, FOG family member 2
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