hypertrophic cardiomyopathy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. (Human Disease Ontology, DOID_11984)
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Genes

311 genes co-occuring with the disease hypertrophic cardiomyopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
MYBPC3 myosin binding protein C, cardiac 3.11127
MYH7 myosin, heavy chain 7, cardiac muscle, beta 2.76718
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 2.64549
TPM1 tropomyosin 1 (alpha) 2.42737
MYBPC2 myosin binding protein C, fast type 2.40879
TNNT2 troponin T type 2 (cardiac) 2.28473
MYL12A myosin, light chain 12A, regulatory, non-sarcomeric 2.17917
TNNI3 troponin I type 3 (cardiac) 2.03471
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow 1.85592
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 1.83818
LAMP2 lysosomal-associated membrane protein 2 1.79345
MYL2 myosin, light chain 2, regulatory, cardiac, slow 1.77677
JPH2 junctophilin 2 1.69496
SCO2 SCO2 cytochrome c oxidase assembly protein 1.67774
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) 1.6678
PTPN11 protein tyrosine phosphatase, non-receptor type 11 1.55779
ACTC1 actin, alpha, cardiac muscle 1 1.53392
GAA glucosidase, alpha; acid 1.53128
APEH acylaminoacyl-peptide hydrolase 1.51413
TTN titin 1.48077
FXN frataxin 1.46803
PLN phospholamban 1.43596
TPM3 tropomyosin 3 1.41402
TMEM70 transmembrane protein 70 1.37381
MYOZ2 myozenin 2 1.26081
DNAH8 dynein, axonemal, heavy chain 8 1.26037
GRB2 growth factor receptor-bound protein 2 1.21522
COX15 cytochrome c oxidase assembly homolog 15 (yeast) 1.19748
TNNC1 troponin C type 1 (slow) 1.19748
FHL1 four and a half LIM domains 1 1.19057
CALR3 calreticulin 3 1.18582
TNNI1 troponin I type 1 (skeletal, slow) 1.18539
NPPA natriuretic peptide A 1.13839
GLA galactosidase, alpha 1.12656
ACE angiotensin I converting enzyme 1.103
RGS18 regulator of G-protein signaling 18 1.10216
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1 1.09377
SHOC2 soc-2 suppressor of clear homolog (C. elegans) 1.08957
COA5 cytochrome c oxidase assembly factor 5 1.0324
MYL9 myosin, light chain 9, regulatory 1.02735
TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase 1.02229
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1.01976
ACADVL acyl-CoA dehydrogenase, very long chain 1.01849
COA6 cytochrome c oxidase assembly factor 6 1.01005
COMMD4 COMM domain containing 4 1.01005
SCO1 SCO1 cytochrome c oxidase assembly protein 0.991909
MYBPC1 myosin binding protein C, slow type 0.9839
MYLK myosin light chain kinase 0.955361
SOS1 son of sevenless homolog 1 (Drosophila) 0.93497
RYR2 ryanodine receptor 2 (cardiac) 0.933313
MYBPH myosin binding protein H 0.898282
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 0.888029
FKBP1B FK506 binding protein 1B, 12.6 kDa 0.878605
EXTL1 exostosin-like glycosyltransferase 1 0.875738
RPS15A ribosomal protein S15a 0.866321
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 0.865093
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 0.858134
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 0.85404
NDUFB10 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa 0.851173
MYPN myopalladin 0.849536
SURF1 surfeit 1 0.848716
MYL12B myosin, light chain 12B, regulatory 0.846259
DTNA dystrobrevin, alpha 0.844621
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor 0.841753
OCM2 oncomodulin 2 0.835198
FHOD3 formin homology 2 domain containing 3 0.831508
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) 0.829869
ACTN2 actinin, alpha 2 0.822077
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 0.820026
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 0.819616
HRAS Harvey rat sarcoma viral oncogene homolog 0.799513
MYEF2 myelin expression factor 2 0.797462
CASQ2 calsequestrin 2 (cardiac muscle) 0.794591
AARS2 alanyl-tRNA synthetase 2, mitochondrial 0.77575
MYO1C myosin IC 0.774932
TNNT1 troponin T type 1 (skeletal, slow) 0.76431
CAV3 caveolin 3 0.75005
TSFM Ts translation elongation factor, mitochondrial 0.747204
NPPB natriuretic peptide B 0.745172
UNC45B unc-45 homolog B (C. elegans) 0.742735
MT-ATP8 ATP synthase F0 subunit 8 0.733406
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0.71925
LMOD2 leiomodin 2 (cardiac) 0.717232
CD36 CD36 molecule (thrombospondin receptor) 0.715618
MYLPF myosin light chain, phosphorylatable, fast skeletal muscle 0.709572
VPREB1 pre-B lymphocyte 1 0.709572
LDB3 LIM domain binding 3 0.699919
TNNI2 troponin I type 2 (skeletal, fast) 0.697911
JPH1 junctophilin 1 0.695103
MYH7B myosin, heavy chain 7B, cardiac muscle, beta 0.687091
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle) 0.679499
MYOM2 myomesin 2 0.677105
ETV3 ets variant 3 0.671925
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 0.658818
OCM oncomodulin 0.65763
INADL InaD-like (Drosophila) 0.650113
TAZ tafazzin 0.647348
NEXN nexilin (F actin binding protein) 0.644192
NPTX2 neuronal pentraxin II 0.640251
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 0.638676
DMD dystrophin 0.636708
SLN sarcolipin 0.636315
COQ4 coenzyme Q4 0.633956
TNNT3 troponin T type 3 (skeletal, fast) 0.633563
HLA-A major histocompatibility complex, class I, A 0.630813
LMNA lamin A/C 0.624143
MYO1E myosin IE 0.622575
LCLAT1 lysocardiolipin acyltransferase 1 0.615138
MYH1 myosin, heavy chain 1, skeletal muscle, adult 0.614356
ADCK4 aarF domain containing kinase 4 0.612792
LMOD1 leiomodin 1 (smooth muscle) 0.610057
MTO1 mitochondrial tRNA translation optimization 1 0.608104
AGTR1 angiotensin II receptor, type 1 0.608104
IARS2 isoleucyl-tRNA synthetase 2, mitochondrial 0.59952
MUT methylmalonyl CoA mutase 0.59913
MYO15A myosin XVA 0.598351
VCL vinculin 0.589779
AGK acylglycerol kinase 0.578883
ACTA1 actin, alpha 1, skeletal muscle 0.578494
ANKRD1 ankyrin repeat domain 1 (cardiac muscle) 0.576939
AK6 adenylate kinase 6 0.573828
MRPS22 mitochondrial ribosomal protein S22 0.569941
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase 0.566054
FRMPD1 FERM and PDZ domain containing 1 0.563335
GATA4 GATA binding protein 4 0.562169
CRYAB crystallin, alpha B 0.560227
TPTE transmembrane phosphatase with tensin homology 0.559839
RNASEH2A ribonuclease H2, subunit A 0.556344
PDE4DIP phosphodiesterase 4D interacting protein 0.552851
PPP3CB protein phosphatase 3, catalytic subunit, beta isozyme 0.548195
PMM2 phosphomannomutase 2 0.548195
DPP6 dipeptidyl-peptidase 6 0.547419
COQ9 coenzyme Q9 0.542379
MURC muscle-related coiled-coil protein 0.540829
MAP2K2 mitogen-activated protein kinase kinase 2 0.536957
KIAA0101 KIAA0101 0.536957
NCBP1 nuclear cap binding protein subunit 1, 80kDa 0.535409
MYOCD myocardin 0.532701
AMPD1 adenosine monophosphate deaminase 1 0.52729
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 0.526132
TMOD2 tropomodulin 2 (neuronal) 0.51842
SCARB2 scavenger receptor class B, member 2 0.513417
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 0.507657
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5 0.50689
ALG12 ALG12, alpha-1,6-mannosyltransferase 0.500379
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 0.497321
ACAD9 acyl-CoA dehydrogenase family, member 9 0.496939
CSRP2 cysteine and glycine-rich protein 2 0.493122
OPCML opioid binding protein/cell adhesion molecule-like 0.490835
COQ6 coenzyme Q6 monooxygenase 0.490454
IGF1 insulin-like growth factor 1 (somatomedin C) 0.488549
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 0.480945
RRAGB Ras-related GTP binding B 0.478668
IMMT inner membrane protein, mitochondrial 0.478289
DOLK dolichol kinase 0.47753
ITGB1BP2 integrin beta 1 binding protein (melusin) 2 0.477151
MYH2 myosin, heavy chain 2, skeletal muscle, adult 0.477151
TMEM43 transmembrane protein 43 0.474498
TIMP1 TIMP metallopeptidase inhibitor 1 0.47374
F13B coagulation factor XIII, B polypeptide 0.471846
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2 0.471089
PYGB phosphorylase, glycogen; brain 0.469197
MYO6 myosin VI 0.466928
PYGL phosphorylase, glycogen, liver 0.465794
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 0.463527
LDHA lactate dehydrogenase A 0.460883
MEF2A myocyte enhancer factor 2A 0.460129
KCNE4 potassium channel, voltage gated subfamily E regulatory beta subunit 4 0.460129
SCARB1 scavenger receptor class B, member 1 0.456355
YIPF1 Yip1 domain family, member 1 0.455224
FZR1 fizzy/cell division cycle 20 related 1 (Drosophila) 0.453339
RBM20 RNA binding motif protein 20 0.453339
COX17 COX17 cytochrome c oxidase copper chaperone 0.451831
PLAC8 placenta-specific 8 0.448441
NTM neurotrimin 0.447687
IRX4 iroquois homeobox 4 0.442418
FUT2 fucosyltransferase 2 (secretor status included) 0.439786
PYGM phosphorylase, glycogen, muscle 0.439786
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 0.437154
MYOM1 myomesin 1 0.417644
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5 0.415024
NPL N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) 0.413153
THBS4 thrombospondin 4 0.412031
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous) 0.400453
GJA1 gap junction protein, alpha 1, 43kDa 0.389653
TTR transthyretin 0.388909
AK7 adenylate kinase 7 0.388166
IGLV2-8 immunoglobulin lambda variable 2-8 0.386308
NEBL nebulette 0.385565
MAP2K1 mitogen-activated protein kinase kinase 1 0.385193
FTMT ferritin mitochondrial 0.379997
PVR poliovirus receptor 0.379256
SDS serine dehydratase 0.376661
PRB2 proline-rich protein BstNI subfamily 2 0.375179
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 0.375179
OR5K2 olfactory receptor, family 5, subfamily K, member 2 0.371477
PDLIM3 PDZ and LIM domain 3 0.370737
TPM2 tropomyosin 2 (beta) 0.370368
FHOD1 formin homology 2 domain containing 1 0.363347
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial 0.355235
EXTL3 exostosin-like glycosyltransferase 3 0.354499
MYOT myotilin 0.348981
COX11 COX11 cytochrome c oxidase copper chaperone 0.348246
FHL2 four and a half LIM domains 2 0.345308
ITGA8 integrin, alpha 8 0.344207
NFATC4 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 0.342006
OR10K2 olfactory receptor, family 10, subfamily K, member 2 0.33651
TK2 thymidine kinase 2, mitochondrial 0.331391
CALM3 calmodulin 3 (phosphorylase kinase, delta) 0.32701
TMOD4 tropomodulin 4 (muscle) 0.326646
CALM2 calmodulin 2 (phosphorylase kinase, delta) 0.326646
RING1 ring finger protein 1 0.325916
CALM1 calmodulin 1 (phosphorylase kinase, delta) 0.320817
SLC25A6 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 0.317909
PRKD1 protein kinase D1 0.316456
DTNB dystrobrevin, beta 0.316092
MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 0.315366
BAG3 BCL2-associated athanogene 3 0.31464
CAV1 caveolin 1, caveolae protein, 22kDa 0.31464
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast) 0.313552
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 0.313552
ACO2 aconitase 2, mitochondrial 0.308118
TFEB transcription factor EB 0.305948
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 0.304503
MMP9 matrix metallopeptidase 9 0.303781
SCN5A sodium channel, voltage gated, type V alpha subunit 0.300894
GPAA1 glycosylphosphatidylinositol anchor attachment 1 0.299092
AKAP1 A kinase (PRKA) anchor protein 1 0.289744
PUS1 pseudouridylate synthase 1 0.28831
IDS iduronate 2-sulfatase 0.28831
THUMPD1 THUMP domain containing 1 0.286877
CMA1 chymase 1, mast cell 0.285444
HLA-C major histocompatibility complex, class I, C 0.281153
STRADA STE20-related kinase adaptor alpha 0.280082
NFKBIL1 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 0.275801
FAM188A family with sequence similarity 188, member A 0.271886
XK X-linked Kx blood group 0.270108
PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta 0.270108
VPS72 vacuolar protein sorting 72 homolog (S. cerevisiae) 0.269753
TGFB1 transforming growth factor, beta 1 0.269398
AKAP9 A kinase (PRKA) anchor protein 9 0.267977
SLC7A4 solute carrier family 7, member 4 0.266913
PFDN4 prefoldin subunit 4 0.266558
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae) 0.264431
SLC3A2 solute carrier family 3 (amino acid transporter heavy chain), member 2 0.263014
LRPAP1 low density lipoprotein receptor-related protein associated protein 1 0.256652
COL1A1 collagen, type I, alpha 1 0.255946
DMPK dystrophia myotonica-protein kinase 0.254183
SNTA1 syntrophin, alpha 1 0.253831
GYG1 glycogenin 1 0.253479
PRAC1 prostate cancer susceptibility candidate 1 0.250663
BMP10 bone morphogenetic protein 10 0.242245
NOTCH1 notch 1 0.230063
TEAD2 TEA domain family member 2 0.22937
MEF2C myocyte enhancer factor 2C 0.227988
SLC2A12 solute carrier family 2 (facilitated glucose transporter), member 12 0.227642
PRODH proline dehydrogenase (oxidase) 1 0.222822
KLF11 Kruppel-like factor 11 0.220424
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 0.220424
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 0.218715
SIRPA signal-regulatory protein alpha 0.213959
FMN2 formin 2 0.209918
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2 0.208579
CS citrate synthase 0.206913
GNAQ guanine nucleotide binding protein (G protein), q polypeptide 0.203604
MGAM maltase-glucoamylase 0.20229
AK2 adenylate kinase 2 0.201962
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive 0.201962
ACE2 angiotensin I converting enzyme 2 0.200982
SP8 Sp8 transcription factor 0.200331
ATP11A ATPase, class VI, type 11A 0.198386
ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1 0.196779
PSMA2 proteasome (prosome, macropain) subunit, alpha type, 2 0.193915
RRM2 ribonucleotide reductase M2 0.190786
DNASE1L3 deoxyribonuclease I-like 3 0.190476
ESRRG estrogen-related receptor gamma 0.189859
DR1 down-regulator of transcription 1, TBP-binding (negative cofactor 2) 0.189244
SRI sorcin 0.188632
CHD4 chromodomain helicase DNA binding protein 4 0.187415
HLA-DRB1 major histocompatibility complex, class II, DR beta 1 0.18621
GYS1 glycogen synthase 1 (muscle) 0.182666
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1 0.180367
HCCS holocytochrome c synthase 0.17952
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 0.178126
PTMS parathymosin 0.176757
TNF tumor necrosis factor 0.176215
TRPM3 transient receptor potential cation channel, subfamily M, member 3 0.176215
WAS Wiskott-Aldrich syndrome 0.175146
VWF von Willebrand factor 0.174617
PER3 period circadian clock 3 0.174617
FBN1 fibrillin 1 0.172544
MMP2 matrix metallopeptidase 2 0.172038
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae) 0.170054
MMP3 matrix metallopeptidase 3 0.168617
RYR1 ryanodine receptor 1 (skeletal) 0.168381
GSK3B glycogen synthase kinase 3 beta 0.167915
NOS3 nitric oxide synthase 3 (endothelial cell) 0.167915
LAMB2 laminin, beta 2 (laminin S) 0.167682
COL3A1 collagen, type III, alpha 1 0.167224
SRF serum response factor (c-fos serum response element-binding transcription factor) 0.167224
PTP4A1 protein tyrosine phosphatase type IVA, member 1 0.164786
ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit 0.164786
WDR5 WD repeat domain 5 0.163729
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3 0.163523
IGLV5-48 immunoglobulin lambda variable 5-48 (non-functional) 0.162908
HDAC3 histone deacetylase 3 0.160021
PDCD1 programmed cell death 1 0.160021
AKT1 v-akt murine thymoma viral oncogene homolog 1 0.159124
SMC1A structural maintenance of chromosomes 1A 0.158434
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 0.158266
FBN2 fibrillin 2 0.157765