abnormality of the left ventricle Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the left ventricle of the heart. (Human Phenotype Ontology, HP_0001711)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001711
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Genes

49 genes associated with the abnormality of the left ventricle phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACTC1 actin, alpha, cardiac muscle 1
AIP aryl hydrocarbon receptor interacting protein
ARL6 ADP-ribosylation factor-like 6
B3GAT3 beta-1,3-glucuronyltransferase 3
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CAV3 caveolin 3
CEP290 centrosomal protein 290kDa
CEP57 centrosomal protein 57kDa
COQ9 coenzyme Q9
DTNA dystrobrevin, alpha
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
FKRP fukutin related protein
GLA galactosidase, alpha
GNAS GNAS complex locus
GYS1 glycogen synthase 1 (muscle)
HDAC4 histone deacetylase 4
IFT27 intraflagellar transport 27
JPH2 junctophilin 2
LDB3 LIM domain binding 3
LZTFL1 leucine zipper transcription factor-like 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYLK2 myosin light chain kinase 2
MYOZ2 myozenin 2
NEXN nexilin (F actin binding protein)
NKX2-5 NK2 homeobox 5
PLN phospholamban
POMT2 protein-O-mannosyltransferase 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
SCN5A sodium channel, voltage gated, type V alpha subunit
SMAD3 SMAD family member 3
SSTR5 somatostatin receptor 5
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TNNT2 troponin T type 2 (cardiac)
TPK1 thiamin pyrophosphokinase 1
TRIM32 tripartite motif containing 32
TTC8 tetratricopeptide repeat domain 8
WDPCP WD repeat containing planar cell polarity effector