dilated heart Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description stretched or widened aperture of the luminal spaces of the heart, usually with an increase in contained fluid (Mammalian Phenotype Ontology, MP_0004937)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004937
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Genes

148 gene mutations causing the dilated heart 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
ACE angiotensin I converting enzyme
ACE2 angiotensin I converting enzyme 2
ACKR3 atypical chemokine receptor 3
ADAM19 ADAM metallopeptidase domain 19
ADGRG6 adhesion G protein-coupled receptor G6
ADIPOQ adiponectin, C1Q and collagen domain containing
ADRA2B adrenoceptor alpha 2B
ADRBK1 adrenergic, beta, receptor kinase 1
AGTR2 angiotensin II receptor, type 2
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ARID3B AT rich interactive domain 3B (BRIGHT-like)
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCL6 B-cell CLL/lymphoma 6
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CHGA chromogranin A
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric)
COX7A1 cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTNNA3 catenin (cadherin-associated protein), alpha 3
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
DES desmin
DNM1L dynamin 1-like
EDN1 endothelin 1
EPHA3 EPH receptor A3
ESR2 estrogen receptor 2 (ER beta)
FBLN5 fibulin 5
FBN1 fibrillin 1
FES FES proto-oncogene, tyrosine kinase
FGF16 fibroblast growth factor 16
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FKBP1A FK506 binding protein 1A, 12kDa
FLNA filamin A, alpha
G6PD glucose-6-phosphate dehydrogenase
GAA glucosidase, alpha; acid
GAB1 GRB2-associated binding protein 1
GATA4 GATA binding protein 4
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GYS1 glycogen synthase 1 (muscle)
HAND1 heart and neural crest derivatives expressed 1
HAND2 heart and neural crest derivatives expressed 2
HBEGF heparin-binding EGF-like growth factor
HDAC7 histone deacetylase 7
HEXIM1 hexamethylene bis-acetamide inducible 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HMOX1 heme oxygenase 1
HOXA3 homeobox A3
HOXB4 homeobox B4
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled
IGF2R insulin-like growth factor 2 receptor
IGHMBP2 immunoglobulin mu binding protein 2
IL6 interleukin 6
IRX4 iroquois homeobox 4
JARID2 jumonji, AT rich interactive domain 2
KIDINS220 kinase D-interacting substrate, 220kDa
KLF15 Kruppel-like factor 15
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA4 laminin, alpha 4
LARGE like-glycosyltransferase
LDB3 LIM domain binding 3
LIAS lipoic acid synthetase
LMNA lamin A/C
LTBP4 latent transforming growth factor beta binding protein 4
LY6E lymphocyte antigen 6 complex, locus E
MCOLN1 mucolipin 1
MEF2A myocyte enhancer factor 2A
MIR22 microRNA 22
MKL1 megakaryoblastic leukemia (translocation) 1
MMP2 matrix metallopeptidase 2
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
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYL7 myosin, light chain 7, regulatory
MYOZ2 myozenin 2
NCF1 neutrophil cytosolic factor 1
NGF nerve growth factor (beta polypeptide)
NKX2-5 NK2 homeobox 5
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NOS3 nitric oxide synthase 3 (endothelial cell)
NOX4 NADPH oxidase 4
NPR1 natriuretic peptide receptor 1
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NRG1 neuregulin 1
NRP1 neuropilin 1
NTF3 neurotrophin 3
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OSR1 odd-skipped related transciption factor 1
PAK4 p21 protein (Cdc42/Rac)-activated kinase 4
PAX3 paired box 3
PDCD1 programmed cell death 1
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDLIM3 PDZ and LIM domain 3
PDLIM5 PDZ and LIM domain 5
PHC1 polyhomeotic homolog 1 (Drosophila)
PIKFYVE phosphoinositide kinase, FYVE finger containing
PLCE1 phospholipase C, epsilon 1
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RB1CC1 RB1-inducible coiled-coil 1
RXRA retinoid X receptor, alpha
SCN5A sodium channel, voltage gated, type V alpha subunit
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
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
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SOD2 superoxide dismutase 2, mitochondrial
SPEG SPEG complex locus
SPTAN1 spectrin, alpha, non-erythrocytic 1
SRD5A3 steroid 5 alpha-reductase 3
SRSF10 serine/arginine-rich splicing factor 10
SSR1 signal sequence receptor, alpha
TBX20 T-box 20
TBX5 T-box 5
TERC telomerase RNA component
TGFB2 transforming growth factor, beta 2
TH tyrosine hydroxylase
TIMP3 TIMP metallopeptidase inhibitor 3
TNNT2 troponin T type 2 (cardiac)
TRIM54 tripartite motif containing 54
TTN titin
UBP1 upstream binding protein 1 (LBP-1a)
VCAN versican
WASL Wiskott-Aldrich syndrome-like
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta
ZFPM2 zinc finger protein, FOG family member 2
ZMPSTE24 zinc metallopeptidase STE24