small heart Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduced size of the heart relative to average (Mammalian Phenotype Ontology, MP_0002188)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002188
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Genes

120 gene mutations causing the small heart phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACACB acetyl-CoA carboxylase beta
ACE angiotensin I converting enzyme
ACSL4 acyl-CoA synthetase long-chain family member 4
ACVRL1 activin A receptor type II-like 1
ADM adrenomedullin
ADRBK1 adrenergic, beta, receptor kinase 1
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AGTR2 angiotensin II receptor, type 2
ARL4D ADP-ribosylation factor-like 4D
ARNTL aryl hydrocarbon receptor nuclear translocator-like
BBX bobby sox homolog (Drosophila)
BMP10 bone morphogenetic protein 10
CALCRL calcitonin receptor-like
CALR calreticulin
CBX6 chromobox homolog 6
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CRTC1 CREB regulated transcription coactivator 1
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
DEDD death effector domain containing
DNASE1L2 deoxyribonuclease I-like 2
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EPHB4 EPH receptor B4
EPO erythropoietin
EPOR erythropoietin receptor
ESR1 estrogen receptor 1
FBXO11 F-box protein 11
FGF16 fibroblast growth factor 16
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FOXM1 forkhead box M1
FUS FUS RNA binding protein
FXR1 fragile X mental retardation, autosomal homolog 1
GAB1 GRB2-associated binding protein 1
GALC galactosylceramidase
GHR growth hormone receptor
GHRHR growth hormone releasing hormone receptor
GIPC1 GIPC PDZ domain containing family, member 1
GJA1 gap junction protein, alpha 1, 43kDa
GNAS GNAS complex locus
GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D
HAND1 heart and neural crest derivatives expressed 1
HP1BP3 heterochromatin protein 1, binding protein 3
HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled
HTRA2 HtrA serine peptidase 2
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IGFBP2 insulin-like growth factor binding protein 2, 36kDa
IL6 interleukin 6
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
KDM6A lysine (K)-specific demethylase 6A
KLF5 Kruppel-like factor 5 (intestinal)
KRAS Kirsten rat sarcoma viral oncogene homolog
LATS2 large tumor suppressor kinase 2
LMNA lamin A/C
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK6 mitogen-activated protein kinase 6
MAPK7 mitogen-activated protein kinase 7
MECOM MDS1 and EVI1 complex locus
MED1 mediator complex subunit 1
MED24 mediator complex subunit 24
MEF2C myocyte enhancer factor 2C
MIB1 mindbomb E3 ubiquitin protein ligase 1
MKS1 Meckel syndrome, type 1
MOSPD3 motile sperm domain containing 3
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH10 myosin, heavy chain 10, non-muscle
NACA nascent polypeptide-associated complex alpha subunit
NCOA6 nuclear receptor coactivator 6
NCSTN nicastrin
NF1 neurofibromin 1
NOS1 nitric oxide synthase 1 (neuronal)
NOTCH2 notch 2
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NRG1 neuregulin 1
OTX2 orthodenticle homeobox 2
OVOL2 ovo-like zinc finger 2
PARD3 par-3 family cell polarity regulator
PBRM1 polybromo 1
PIKFYVE phosphoinositide kinase, FYVE finger containing
PITX2 paired-like homeodomain 2
PLAGL1 pleiomorphic adenoma gene-like 1
POFUT1 protein O-fucosyltransferase 1
POR P450 (cytochrome) oxidoreductase
POSTN periostin, osteoblast specific factor
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP3CB protein phosphatase 3, catalytic subunit, beta isozyme
PRDM16 PR domain containing 16
RAMP2 receptor (G protein-coupled) activity modifying protein 2
RCAN1 regulator of calcineurin 1
RXRA retinoid X receptor, alpha
SEC24B SEC24 family member B
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SLC38A10 solute carrier family 38, member 10
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SMYD1 SET and MYND domain containing 1
SNORD50A small nucleolar RNA, C/D box 50A
SNORD50B small nucleolar RNA, C/D box 50B
SNX27 sorting nexin family member 27
SPP1 secreted phosphoprotein 1
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)
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TERC telomerase RNA component
TH tyrosine hydroxylase
THRA thyroid hormone receptor, alpha
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1
TKT transketolase
TLR2 toll-like receptor 2
TSC22D1 TSC22 domain family, member 1
TTC7A tetratricopeptide repeat domain 7A
TTN titin
VCL vinculin
VEGFB vascular endothelial growth factor B
WASF2 WAS protein family, member 2
WNK1 WNK lysine deficient protein kinase 1
WT1 Wilms tumor 1
XIRP2 xin actin binding repeat containing 2