cardiomyopathy Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. (Human Disease Ontology, DOID_0050700)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0001638
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Genes

172 genes associated with the cardiomyopathy phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 1.74414
AKAP13 A kinase (PRKA) anchor protein 13 1.66768
KIAA1755 KIAA1755 1.39187
CD46 CD46 molecule, complement regulatory protein 1.30141
CCDC141 coiled-coil domain containing 141 1.30141
SYT10 synaptotagmin X 1.22293
FADS1 fatty acid desaturase 1 1.18108
TNNT2 troponin T type 2 (cardiac) 1.1784
NTM neurotrimin 1.04365
ATP6V1C2 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 1.00059
NUGGC nuclear GTPase, germinal center associated 0.942765
NRG1 neuregulin 1 0.929216
LOC100507053 uncharacterized LOC100507053 0.919744
BCL2 B-cell CLL/lymphoma 2 0.882984
DLGAP1 discs, large (Drosophila) homolog-associated protein 1 0.855449
HSPB7 heat shock 27kDa protein family, member 7 (cardiovascular) 0.597787
CHRM2 cholinergic receptor, muscarinic 2 0.572823
NKX2-5 NK2 homeobox 5 0.551583
BAG3 BCL2-associated athanogene 3 0.535661
LOC100507462 uncharacterized LOC100507462 0.526896
SIPA1L1 signal-induced proliferation-associated 1 like 1 0.512253
CEP85L centrosomal protein 85kDa-like 0.512226
ZBTB17 zinc finger and BTB domain containing 17 0.424122
FNDC3B fibronectin type III domain containing 3B 0.424122
RFX4 regulatory factor X, 4 (influences HLA class II expression) 0.416272
CPNE8 copine VIII 0.411631
COL17A1 collagen, type XVII, alpha 1 0.403699
HCG22 HLA complex group 22 0.399472
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 0.398896
ESRRG estrogen-related receptor gamma 0.394839
RUNX1 runt-related transcription factor 1 0.391474
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.390094
FAM149B1 family with sequence similarity 149, member B1 0.389952
ADD2 adducin 2 (beta) 0.389917
PDE11A phosphodiesterase 11A 0.386957
DHX16 DEAH (Asp-Glu-Ala-His) box polypeptide 16 0.381394
RAF1 Raf-1 proto-oncogene, serine/threonine kinase 0.379688
FGF1 fibroblast growth factor 1 (acidic) 0.378502
CPNE5 copine V 0.377459
TMEM135 transmembrane protein 135 0.375464
PADI3 peptidyl arginine deiminase, type III 0.375387
RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1 0.372959
SLC35F1 solute carrier family 35, member F1 0.372734
ACTN4 actinin, alpha 4 0.370544
CNTN5 contactin 5 0.367266
GIGYF1 GRB10 interacting GYF protein 1 0.366433
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 0.365069
KIAA1715 KIAA1715 0.364891
CLCNKA chloride channel, voltage-sensitive Ka 0.363674
PHF11 PHD finger protein 11 0.362606
OSBP2 oxysterol binding protein 2 0.359655
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1 0.359537
DCP1A decapping mRNA 1A 0.359537
SMAD3 SMAD family member 3 0.358508
TMEM132D transmembrane protein 132D 0.357225
DAB2IP DAB2 interacting protein 0.357225
FABP7 fatty acid binding protein 7, brain 0.35674
CA10 carbonic anhydrase X 0.356079
EFNA5 ephrin-A5 0.355885
ARRB1 arrestin, beta 1 0.3556
PRKG1 protein kinase, cGMP-dependent, type I 0.354455
MAPK1 mitogen-activated protein kinase 1 0.354209
ZNF385D zinc finger protein 385D 0.353506
ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 0.353506
DOCK4 dedicator of cytokinesis 4 0.352711
ITPR2 inositol 1,4,5-trisphosphate receptor, type 2 0.352304
MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 0.351723
CHD6 chromodomain helicase DNA binding protein 6 0.350658
CMYA5 cardiomyopathy associated 5 0.350484
KIAA1549L KIAA1549-like 0.350424
PIEZO2 piezo-type mechanosensitive ion channel component 2 0.350246
CTNNA2 catenin (cadherin-associated protein), alpha 2 0.349729
ELAVL2 ELAV like neuron-specific RNA binding protein 2 0.348973
TP73 tumor protein p73 0.348716
WDR86 WD repeat domain 86 0.348665
LGALS4 lectin, galactoside-binding, soluble, 4 0.348565
CNPY3 canopy FGF signaling regulator 3 0.348465
LDAH lipid droplet associated hydrolase 0.347839
RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1 0.347563
ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 0.347472
NCEH1 neutral cholesterol ester hydrolase 1 0.346525
TK1 thymidine kinase 1, soluble 0.346161
PTK2 protein tyrosine kinase 2 0.346082
MAP2 microtubule-associated protein 2 0.34562
MYH11 myosin, heavy chain 11, smooth muscle 0.34562
VWC2L von Willebrand factor C domain containing protein 2-like 0.345433
ANKRD33B ankyrin repeat domain 33B 0.345322
CDH4 cadherin 4, type 1, R-cadherin (retinal) 0.345177
MBD5 methyl-CpG binding domain protein 5 0.345177
ZFPM2 zinc finger protein, FOG family member 2 0.344512
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 0.343699
PARP12 poly (ADP-ribose) polymerase family, member 12 0.343543
VWA3B von Willebrand factor A domain containing 3B 0.341985
WBSCR17 Williams-Beuren syndrome chromosome region 17 0.341723
EBF1 early B-cell factor 1 0.341637
SLC38A8 solute carrier family 38, member 8 0.341524
CSMD1 CUB and Sushi multiple domains 1 0.34144
RALYL RALY RNA binding protein-like 0.341356
TENM4 teneurin transmembrane protein 4 0.341273
HS3ST4 heparan sulfate (glucosamine) 3-O-sulfotransferase 4 0.340734
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7 0.340734
MCPH1 microcephalin 1 0.340577
LAMA1 laminin, alpha 1 0.340474
KLHL21 kelch-like family member 21 0.34032
MTPN myotrophin 0.34027
GABRR1 gamma-aminobutyric acid (GABA) A receptor, rho 1 0.339946
SEC31B SEC31 homolog B (S. cerevisiae) 0.339728
KLHL1 kelch-like family member 1 0.339537
ALK anaplastic lymphoma receptor tyrosine kinase 0.339443
TCF21 transcription factor 21 0.339443
TGFB2 transforming growth factor, beta 2 0.339303
TMEM87B transmembrane protein 87B 0.338349
LINGO2 leucine rich repeat and Ig domain containing 2 0.338349
ITGA1 integrin, alpha 1 0.337891
NCOA1 nuclear receptor coactivator 1 0.337708
MAP3K5 mitogen-activated protein kinase kinase kinase 5 0.337353
CACNB2 calcium channel, voltage-dependent, beta 2 subunit 0.337237
PPP2R2B protein phosphatase 2, regulatory subunit B, beta 0.336989
ITGA9 integrin, alpha 9 0.33697
SERPINB11 serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) 0.336914
HSD17B12 hydroxysteroid (17-beta) dehydrogenase 12 0.336895
CYFIP2 cytoplasmic FMR1 interacting protein 2 0.336637
RAB40C RAB40C, member RAS oncogene family 0.336619
EML6 echinoderm microtubule associated protein like 6 0.33651
ACTA2 actin, alpha 2, smooth muscle, aorta 0.336314
SGCZ sarcoglycan, zeta 0.336173
ALG9 ALG9, alpha-1,2-mannosyltransferase 0.335999
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box) 0.335744
NKAIN2 Na+/K+ transporting ATPase interacting 2 0.335627
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q 0.335154
SSUH2 ssu-2 homolog (C. elegans) 0.334886
LAMB1 laminin, beta 1 0.334541
PPM1H protein phosphatase, Mg2+/Mn2+ dependent, 1H 0.334524
FAS Fas cell surface death receptor 0.334055
TMEM232 transmembrane protein 232 0.333399
RNLS renalase, FAD-dependent amine oxidase 0.333245
ANTXR1 anthrax toxin receptor 1 0.333092
ZNF516 zinc finger protein 516 0.332881
TNFRSF10D tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 0.332673
CLMN calmin (calponin-like, transmembrane) 0.332571
AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 0.332571
CPQ carboxypeptidase Q 0.332527
NCALD neurocalcin delta 0.332513
TRIM67 tripartite motif containing 67 0.332441
OPCML opioid binding protein/cell adhesion molecule-like 0.332156
DLG2 discs, large homolog 2 (Drosophila) 0.332099
GRM5 glutamate receptor, metabotropic 5 0.332085
VAV3 vav 3 guanine nucleotide exchange factor 0.331988
ACYP2 acylphosphatase 2, muscle type 0.331591
TRPM5 transient receptor potential cation channel, subfamily M, member 5 0.331578
FAXC failed axon connections homolog (Drosophila) 0.331524
PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta 0.331404
SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 0.331377
IDE insulin-degrading enzyme 0.328668
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide 0.328668
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 0.325922
SPEG SPEG complex locus 0.324954
ADORA3 adenosine A3 receptor 0.324488
FLJ37453 uncharacterized LOC729614 0.321006
CRYAB crystallin, alpha B 0.320721
CENPO centromere protein O 0.31944
FAM19A2 family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 0.31881
SCN10A sodium channel, voltage gated, type X alpha subunit 0.318325
NACA nascent polypeptide-associated complex alpha subunit 0.316326
PRPF3 pre-mRNA processing factor 3 0.31612
NCKIPSD NCK interacting protein with SH3 domain 0.315718
IP6K2 inositol hexakisphosphate kinase 2 0.308635
MMS19 MMS19 nucleotide excision repair homolog (S. cerevisiae) 0.307984
MSI1 musashi RNA-binding protein 1 0.303723
PPP4C protein phosphatase 4, catalytic subunit 0.300005
NAE1 NEDD8 activating enzyme E1 subunit 1 0.297267
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 0.295536