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	hypertrophic cardiomyopathy

Disease ID	410
Disease	hypertrophic cardiomyopathy
Definition	A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).
Synonym	cardiomyopathies, hypertrophic cardiomyopathies, hypertrophic obstructive cardiomyopathy hypertrophic cardiomyopathy, hypertrophic cardiomyopathy, hypertrophic [disease/finding] cardiomyopathy, hypertrophic obstructive cardiomyopathy, obstructive hcm - hypertrophic cardiomyopathy hocm hocm - hypertrophic obstructive cardiomyopathy hyper. obst. cardiomyopathy hypertrophic cardiomyopathies hypertrophic cardiomyopathy (disorder) hypertrophic cardiomyopathy (hcm) hypertrophic myocardiopathy hypertrophic obstructive cardiomyopathies hypertrophic obstructive cardiomyopathy hypertrophic obstructive cardiomyopathy (disorder) hyprtrophc obst cardiomy obstructive cardiomyopathies, hypertrophic obstructive cardiomyopathy obstructive cardiomyopathy, hypertrophic subvalv stenosis
Orphanet	ORPHANET:217569
DOID	DOID:11984
UMLS	C0007194
MeSH	D002312
SNOMED-CT	SNOMEDCT_US_2016_09_01:233873004;SNOMEDCT_US_2016_09_01:45227007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:75) C0018801 \| heart failure \| 21 C0028326 \| noonan syndrome \| 7 C0014118 \| endocarditis \| 6 C0022116 \| ischemia \| 6 C0878544 \| cardiomyopathy \| 5 C0018802 \| congestive heart failure \| 4 C0155626 \| acute myocardial infarction \| 4 C0018801 \| cardiac failure \| 4 C0007193 \| dilated cardiomyopathy \| 3 C0026266 \| mitral regurgitation \| 3 C0003507 \| aortic stenosis \| 3 C0027051 \| myocardial infarct \| 3 C0002986 \| fabry disease \| 3 C0027051 \| myocardial infarction \| 3 C0011847 \| diabetes \| 2 C0020542 \| pulmonary hypertension \| 2 C0037315 \| sleep apnea \| 2 C1960469 \| left ventricular noncompaction \| 2 C1145670 \| respiratory failure \| 2 C0037315 \| sleep-disordered breathing \| 2 C0020538 \| hypertension \| 2 C0175704 \| leopard syndrome \| 2 C0027877 \| neuronal ceroid-lipofuscinosis \| 2 C0085113 \| neurofibromatosis \| 2 C0014121 \| infective endocarditis \| 2 C0026265 \| mitral valve disease \| 2 C0034063 \| pulmonary edema \| 1 C0016719 \| friedreich's ataxia \| 1 C0001363 \| acute mesenteric ischemia \| 1 C0002871 \| anemia \| 1 C0022658 \| kidney disease \| 1 C0442874 \| neuropathy \| 1 C0004096 \| bronchial asthma \| 1 C0017921 \| pompe's disease \| 1 C0007222 \| cardiovascular disorders \| 1 C0520679 \| obstructive sleep apnea \| 1 C0026848 \| myopathy \| 1 C0004096 \| asthma \| 1 C0751336 \| distal myopathy \| 1 C0016522 \| secundum atrial septal defect \| 1 C0007115 \| thyroid ca \| 1 C0221032 \| generalized lipodystrophy \| 1 C0878544 \| myocardial disease \| 1 C0043202 \| wolff-parkinson-white syndrome \| 1 C0004134 \| ataxia \| 1 C0034065 \| pulmonary embolism \| 1 C0034063 \| pulmonary oedema \| 1 C0085207 \| gestational diabetes \| 1 C0017921 \| pompe disease \| 1 C0039446 \| telangiectasia \| 1 C0027726 \| nephrotic syndrome \| 1 C0032914 \| preeclampsia \| 1 C0751651 \| mitochondrial disease \| 1 C0011570 \| depression \| 1 C0002986 \| fabry's disease \| 1 C0026266 \| mitral valve regurgitation \| 1 C0016045 \| fibroma \| 1 C0002986 \| anderson-fabry disease \| 1 C0013720 \| ehlers-danlos syndrome \| 1 C0010068 \| coronary disease \| 1 C0587248 \| costello syndrome \| 1 C0042373 \| vascular disorders \| 1 C0085580 \| essential hypertension \| 1 C0270921 \| axonal neuropathy \| 1 C0004245 \| atrioventricular block \| 1 C0027121 \| myositis \| 1 C0031511 \| pheochromocytoma \| 1 C0018802 \| congestive cardiac failure \| 1 C0022661 \| chronic kidney disease \| 1 C0238190 \| inclusion body myositis \| 1 C0042373 \| vascular disorder \| 1 C0002878 \| hemolytic anemia \| 1 C0018818 \| ventricular septal defect \| 1 C1859317 \| sengers syndrome \| 1 C0022116 \| ischaemia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:37) 3630 \| INS \| CTD_human 4625 \| MYH7 \| GHR 4624 \| MYH6 \| CTD_human 3329 \| HSPD1 \| CTD_human 5894 \| RAF1 \| CTD_human 5443 \| POMC \| CTD_human 3315 \| HSPB1 \| CTD_human 9997 \| SCO2 \| CTD_human 4609 \| MYC \| CTD_human 7157 \| TP53 \| CTD_human 8557 \| TCAP \| GHR 57158 \| JPH2 \| GHR 51422 \| PRKAG2 \| GHR 7139 \| TNNT2 \| CTD_human;GHR 6902 \| TBCA \| CTD_human 4634 \| MYL3 \| GHR 91624 \| NEXN \| GHR 8048 \| CSRP3 \| GHR 7168 \| TPM1 \| GHR 7414 \| VCL \| GHR 7273 \| TTN \| GHR 125972 \| CALR3 \| GHR 88 \| ACTN2 \| GHR 4719 \| NDUFS1 \| CTD_human 4607 \| MYBPC3 \| CTD_human;GHR 58498 \| MYL7 \| CTD_human 11186 \| RASSF1 \| CTD_human 23493 \| HEY2 \| CTD_human 5350 \| PLN \| GHR 7137 \| TNNI3 \| GHR 2548 \| GAA \| CTD_human 51778 \| MYOZ2 \| GHR 4830 \| NME1 \| CTD_human 4633 \| MYL2 \| CTD_human;GHR 4635 \| MYL4 \| CTD_human 70 \| ACTC1 \| GHR 6548 \| SLC9A1 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:42) 1636 \| ACE \| CIPHER 70 \| ACTC1 \| CIPHER 88 \| ACTN2 \| CIPHER 183 \| AGT \| CIPHER 185 \| AGTR1 \| CIPHER 1215 \| CMA1 \| CIPHER 8048 \| CSRP3 \| CIPHER 1585 \| CYP11B2 \| CIPHER 50805 \| IRX4 \| CIPHER 11155 \| LDB3 \| CIPHER 4607 \| MYBPC3 \| CIPHER;CTD_human 4625 \| MYH7 \| CIPHER 4633 \| MYL2 \| CIPHER;CTD_human 4634 \| MYL3 \| CIPHER 8557 \| TCAP \| CIPHER 7137 \| TNNI3 \| CIPHER 7139 \| TNNT2 \| CIPHER;CTD_human 7168 \| TPM1 \| CIPHER 7414 \| VCL \| CIPHER 1674 \| DES \| CIPHER 3106 \| HLA-B \| CIPHER 5350 \| PLN \| CIPHER 51422 \| PRKAG2 \| CIPHER 7134 \| TNNC1 \| CIPHER 3329 \| HSPD1 \| CTD_human 5443 \| POMC \| CTD_human 6902 \| TBCA \| CTD_human 4609 \| MYC \| CTD_human 3315 \| HSPB1 \| CTD_human 58498 \| MYL7 \| CTD_human 4719 \| NDUFS1 \| CTD_human 4830 \| NME1 \| CTD_human 3630 \| INS \| CTD_human 4624 \| MYH6 \| CTD_human 7157 \| TP53 \| CTD_human 23493 \| HEY2 \| CTD_human 4635 \| MYL4 \| CTD_human 5894 \| RAF1 \| CTD_human 11186 \| RASSF1 \| CTD_human 9997 \| SCO2 \| CTD_human 2548 \| GAA \| CTD_human 6548 \| SLC9A1 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:216) 37 \| ACADVL \| 2.818 \| DISEASES 58 \| ACTA1 \| 2.009 \| DISEASES 60 \| ACTB \| 1.111 \| DISEASES 88 \| ACTN2 \| 3.781 \| DISEASES 95 \| ACY1 \| 1.061 \| DISEASES 101 \| ADAM8 \| 1.515 \| DISEASES 153 \| ADRB1 \| 1.275 \| DISEASES 55750 \| AGK \| 1.948 \| DISEASES 10555 \| AGPAT2 \| 2.688 \| DISEASES 183 \| AGT \| 2.663 \| DISEASES 186 \| AGTR2 \| 1.314 \| DISEASES 204 \| AK2 \| 1.006 \| DISEASES 8165 \| AKAP1 \| 1.026 \| DISEASES 1646 \| AKR1C2 \| 1.005 \| DISEASES 79087 \| ALG12 \| 1.641 \| DISEASES 270 \| AMPD1 \| 1.522 \| DISEASES 287 \| ANK2 \| 1.6 \| DISEASES 27063 \| ANKRD1 \| 1.985 \| DISEASES 55210 \| ATAD3A \| 2.649 \| DISEASES 219293 \| ATAD3C \| 2.211 \| DISEASES 488 \| ATP2A2 \| 2.168 \| DISEASES 27032 \| ATP2C1 \| 3.459 \| DISEASES 537 \| ATP6AP1 \| 1.35 \| DISEASES 11273 \| ATXN2L \| 1.601 \| DISEASES 9531 \| BAG3 \| 1.128 \| DISEASES 26580 \| BSCL2 \| 2.859 \| DISEASES 801 \| CALM1 \| 2.03 \| DISEASES 817 \| CAMK2D \| 1.377 \| DISEASES 834 \| CASP1 \| 1.143 \| DISEASES 840 \| CASP7 \| 1.624 \| DISEASES 859 \| CAV3 \| 2.653 \| DISEASES 23607 \| CD2AP \| 2.795 \| DISEASES 493753 \| COA5 \| 2.816 \| DISEASES 388753 \| COA6 \| 3.23 \| DISEASES 51004 \| COQ6 \| 1.438 \| DISEASES 84987 \| COX14 \| 2.428 \| DISEASES 10488 \| CREB3 \| 1.324 \| DISEASES 1585 \| CYP11B2 \| 2.671 \| DISEASES 1756 \| DMD \| 3.045 \| DISEASES 1760 \| DMPK \| 1.65 \| DISEASES 7266 \| DNAJC7 \| 2.207 \| DISEASES 1785 \| DNM2 \| 1.545 \| DISEASES 22845 \| DOLK \| 1.363 \| DISEASES 8110 \| DPF3 \| 2.038 \| DISEASES 1804 \| DPP6 \| 1.709 \| DISEASES 1825 \| DSC3 \| 1.107 \| DISEASES 1832 \| DSP \| 1.269 \| DISEASES 1837 \| DTNA \| 2.185 \| DISEASES 1838 \| DTNB \| 1.552 \| DISEASES 1906 \| EDN1 \| 1.426 \| DISEASES 25975 \| EGFL6 \| 1.503 \| DISEASES 60528 \| ELAC2 \| 1.762 \| DISEASES 3266 \| ERAS \| 1.24 \| DISEASES 2117 \| ETV3 \| 2.655 \| DISEASES 2132 \| EXT2 \| 1.462 \| DISEASES 2134 \| EXTL1 \| 2.923 \| DISEASES 2200 \| FBN1 \| 1.317 \| DISEASES 2318 \| FLNC \| 1.552 \| DISEASES 22844 \| FRMPD1 \| 2.187 \| DISEASES 2524 \| FUT2 \| 1.735 \| DISEASES 2395 \| FXN \| 4.648 \| DISEASES 2626 \| GATA4 \| 2.342 \| DISEASES 8733 \| GPAA1 \| 1.43 \| DISEASES 373156 \| GSTK1 \| 1.614 \| DISEASES 84705 \| GTPBP3 \| 3.2 \| DISEASES 2992 \| GYG1 \| 1.232 \| DISEASES 3030 \| HADHA \| 1.359 \| DISEASES 3032 \| HADHB \| 2.178 \| DISEASES 3055 \| HCK \| 2.486 \| DISEASES 3105 \| HLA-A \| 2.474 \| DISEASES 3106 \| HLA-B \| 1.722 \| DISEASES 3107 \| HLA-C \| 1.132 \| DISEASES 84525 \| HOPX \| 1.519 \| DISEASES 259307 \| IL4I1 \| 2.245 \| DISEASES 10989 \| IMMT \| 1.446 \| DISEASES 723961 \| INS-IGF2 \| 1.565 \| DISEASES 8516 \| ITGA8 \| 1.365 \| DISEASES 26548 \| ITGB1BP2 \| 1.735 \| DISEASES 56704 \| JPH1 \| 1.1 \| DISEASES 57158 \| JPH2 \| 4.139 \| DISEASES 55683 \| KANSL3 \| 1.07 \| DISEASES 102723508 \| KANTR \| 3.199 \| DISEASES 84148 \| KAT8 \| 1.555 \| DISEASES 3892 \| KRT86 \| 1.009 \| DISEASES 3920 \| LAMP2 \| 5.247 \| DISEASES 11155 \| LDB3 \| 2.516 \| DISEASES 3939 \| LDHA \| 1.728 \| DISEASES 4000 \| LMNA \| 2.801 \| DISEASES 442721 \| LMOD2 \| 2.033 \| DISEASES 26020 \| LRP10 \| 2.434 \| DISEASES 4043 \| LRPAP1 \| 1.265 \| DISEASES 4137 \| MAPT \| 1.337 \| DISEASES 4151 \| MB \| 1.049 \| DISEASES 84515 \| MCM8 \| 1.401 \| DISEASES 4205 \| MEF2A \| 2.226 \| DISEASES 4208 \| MEF2C \| 1.605 \| DISEASES 8972 \| MGAM \| 1.69 \| DISEASES 4318 \| MMP9 \| 1.674 \| DISEASES 4337 \| MOCS1 \| 1.527 \| DISEASES 4338 \| MOCS2 \| 1.169 \| DISEASES 10933 \| MORF4L1 \| 1.495 \| DISEASES 4508 \| MT-ATP6 \| 1.909 \| DISEASES 4509 \| MT-ATP8 \| 2.373 \| DISEASES 4519 \| MT-CYB \| 2.525 \| DISEASES 103504742 \| MT-LIPCAR \| 2.353 \| DISEASES 4535 \| MT-ND1 \| 2.221 \| DISEASES 4540 \| MT-ND5 \| 2.06 \| DISEASES 4541 \| MT-ND6 \| 1.498 \| DISEASES 25821 \| MTO1 \| 2.886 \| DISEASES 4511 \| MT-TC \| 1.675 \| DISEASES 4558 \| MT-TF \| 1.281 \| DISEASES 4565 \| MT-TI \| 2.805 \| DISEASES 4566 \| MT-TK \| 1.693 \| DISEASES 4567 \| MT-TL1 \| 1.597 \| DISEASES 4572 \| MT-TQ \| 3.209 \| DISEASES 4573 \| MT-TR \| 1.602 \| DISEASES 4578 \| MT-TW \| 1.504 \| DISEASES 347273 \| MURC \| 2.612 \| DISEASES 4595 \| MUTYH \| 1.045 \| DISEASES 4604 \| MYBPC1 \| 3.036 \| DISEASES 4606 \| MYBPC2 \| 6.581 \| DISEASES 4607 \| MYBPC3 \| 7.882 \| DISEASES 4609 \| MYC \| 1.802 \| DISEASES 4624 \| MYH6 \| 5.431 \| DISEASES 4625 \| MYH7 \| 7.324 \| DISEASES 4637 \| MYL6 \| 1.203 \| DISEASES 4638 \| MYLK \| 1.513 \| DISEASES 85366 \| MYLK2 \| 3.179 \| DISEASES 29895 \| MYLPF \| 2.301 \| DISEASES 4641 \| MYO1C \| 1.386 \| DISEASES 4646 \| MYO6 \| 2.487 \| DISEASES 93649 \| MYOCD \| 1.857 \| DISEASES 84665 \| MYPN \| 3.502 \| DISEASES 4686 \| NCBP1 \| 1.906 \| DISEASES 25915 \| NDUFAF3 \| 1.355 \| DISEASES 29078 \| NDUFAF4 \| 2.074 \| DISEASES 4729 \| NDUFV2 \| 3.065 \| DISEASES 4703 \| NEB \| 1.403 \| DISEASES 10529 \| NEBL \| 2.392 \| DISEASES 91624 \| NEXN \| 2.02 \| DISEASES 4763 \| NF1 \| 1.289 \| DISEASES 4772 \| NFATC1 \| 1.78 \| DISEASES 4776 \| NFATC4 \| 1.822 \| DISEASES 4878 \| NPPA \| 2.708 \| DISEASES 4879 \| NPPB \| 3.614 \| DISEASES 50863 \| NTM \| 1.482 \| DISEASES 84033 \| OBSCN \| 3.23 \| DISEASES 5030 \| P2RY4 \| 1.024 \| DISEASES 103752588 \| PACERR \| 1.35 \| DISEASES 103164619 \| PCAT2 \| 1.734 \| DISEASES 9659 \| PDE4DIP \| 1.554 \| DISEASES 23590 \| PDSS1 \| 1.201 \| DISEASES 57107 \| PDSS2 \| 1.246 \| DISEASES 5203 \| PFDN4 \| 1.162 \| DISEASES 5225 \| PGC \| 1.138 \| DISEASES 23133 \| PHF8 \| 1.137 \| DISEASES 5293 \| PIK3CD \| 1.342 \| DISEASES 10631 \| POSTN \| 1.397 \| DISEASES 5493 \| PPL \| 1.058 \| DISEASES 5532 \| PPP3CB \| 3.144 \| DISEASES 653247 \| PRB2 \| 1.282 \| DISEASES 56980 \| PRDM10 \| 1.13 \| DISEASES 7803 \| PTP4A1 \| 1.039 \| DISEASES 5781 \| PTPN11 \| 4.837 \| DISEASES 80324 \| PUS1 \| 1.263 \| DISEASES 5817 \| PVR \| 2.134 \| DISEASES 282996 \| RBM20 \| 2.315 \| DISEASES 1827 \| RCAN1 \| 1.114 \| DISEASES 64407 \| RGS18 \| 3.691 \| DISEASES 6016 \| RIT1 \| 1.005 \| DISEASES 55819 \| RNF130 \| 2.364 \| DISEASES 6231 \| RPS26 \| 1.165 \| DISEASES 10670 \| RRAGA \| 1.553 \| DISEASES 6262 \| RYR2 \| 3.092 \| DISEASES 286133 \| SCARA5 \| 1.501 \| DISEASES 404552 \| SCGB1D4 \| 1.738 \| DISEASES 6331 \| SCN5A \| 2.247 \| DISEASES 6444 \| SGCD \| 2.899 \| DISEASES 8036 \| SHOC2 \| 3.397 \| DISEASES 140885 \| SIRPA \| 1.026 \| DISEASES 788 \| SLC25A20 \| 2.032 \| DISEASES 293 \| SLC25A6 \| 1.792 \| DISEASES 29988 \| SLC2A8 \| 1.144 \| DISEASES 6520 \| SLC3A2 \| 1.389 \| DISEASES 6540 \| SLC6A13 \| 1.574 \| DISEASES 6541 \| SLC7A1 \| 1.145 \| DISEASES 6545 \| SLC7A4 \| 1.269 \| DISEASES 8243 \| SMC1A \| 1.525 \| DISEASES 23583 \| SMUG1 \| 1.835 \| DISEASES 51429 \| SNX9 \| 1.01 \| DISEASES 6654 \| SOS1 \| 3.547 \| DISEASES 221833 \| SP8 \| 1.18 \| DISEASES 92335 \| STRADA \| 1.222 \| DISEASES 56670 \| SUCNR1 \| 1.102 \| DISEASES 6834 \| SURF1 \| 2.633 \| DISEASES 9900 \| SV2A \| 2.085 \| DISEASES 55623 \| THUMPD1 \| 1.331 \| DISEASES 79089 \| TMUB2 \| 2.614 \| DISEASES 7135 \| TNNI1 \| 3.609 \| DISEASES 7137 \| TNNI3 \| 6.204 \| DISEASES 7138 \| TNNT1 \| 4.705 \| DISEASES 7139 \| TNNT2 \| 6.374 \| DISEASES 7148 \| TNXB \| 1.471 \| DISEASES 7169 \| TPM2 \| 2.24 \| DISEASES 7179 \| TPTE \| 3.081 \| DISEASES 84676 \| TRIM63 \| 2.523 \| DISEASES 7273 \| TTN \| 5.032 \| DISEASES 51366 \| UBR5 \| 1.11 \| DISEASES 7407 \| VARS \| 1.311 \| DISEASES 57176 \| VARS2 \| 1.544 \| DISEASES 7441 \| VPREB1 \| 2.206 \| DISEASES 6944 \| VPS72 \| 1.404 \| DISEASES 7453 \| WARS \| 2.439 \| DISEASES 23038 \| WDTC1 \| 2.634 \| DISEASES 51067 \| YARS2 \| 2.039 \| DISEASES 124220 \| ZG16B \| 1.444 \| DISEASES
Locus	(Waiting for update.)

Disease ID	410
Disease	hypertrophic cardiomyopathy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:90) HP:0001685 \| Myocardial fibrosis \| 32 HP:0005110 \| Atrial fibrillation \| 26 HP:0001635 \| Congestive heart failure \| 25 HP:0001645 \| Sudden cardiac death \| 18 HP:0011675 \| Arrhythmias \| 17 HP:0001712 \| Left ventricular hypertrophy \| 12 HP:0001649 \| Tachycardia \| 12 HP:0001714 \| Ventricular hypertrophy \| 12 HP:0002617 \| Aneurysmal dilatation \| 11 HP:0004756 \| Ventricular tachycardia \| 9 HP:0100584 \| Endocarditis \| 6 HP:0004308 \| Ventricular arrhythmia \| 6 HP:0001638 \| Cardiomyopathy \| 5 HP:0000822 \| Hypertension \| 4 HP:0001653 \| Mitral valve insufficiency \| 4 HP:0002092 \| Pulmonary artery hypertension \| 4 HP:0001644 \| Congestive cardiomyopathy \| 3 HP:0001658 \| Myocardial infarction \| 3 HP:0001650 \| Valvular aortic stenosis \| 3 HP:0004757 \| Paroxysmal atrial fibrillation \| 3 HP:0001695 \| Cardiac arrest \| 3 HP:0006698 \| Ventricular aneurysm \| 3 HP:0001279 \| Syncope \| 3 HP:0030149 \| Cardiovascular shock \| 3 HP:0011665 \| Takotsubo cardiomyopathy \| 2 HP:0006689 \| Bacterial endocarditis \| 2 HP:0010535 \| Sleep apnea \| 2 HP:0001670 \| Asymmetric septal hypertrophy \| 2 HP:0001252 \| Hypotonia \| 2 HP:0001903 \| Anemia \| 2 HP:0002094 \| Dyspnea \| 2 HP:0001067 \| Neurofibromas \| 2 HP:0002878 \| Respiratory failure \| 2 HP:0030682 \| Left ventricular noncompaction \| 2 HP:0001907 \| Thromboembolic disease \| 2 HP:0012266 \| T-wave alternans \| 2 HP:0012722 \| Heart block \| 2 HP:0001290 \| Generalized hypotonia \| 1 HP:0002099 \| Asthma \| 1 HP:0003198 \| Myopathic changes \| 1 HP:0002615 \| Low blood pressure \| 1 HP:0001284 \| Areflexia \| 1 HP:0003477 \| Peripheral axonal neuropathy \| 1 HP:0001260 \| Dysarthric speech \| 1 HP:0007185 \| Loss of consciousness \| 1 HP:0001716 \| Wolff-Parkinson-White syndrome \| 1 HP:0011664 \| Left ventricular non-compaction cardiomyopathy \| 1 HP:0100735 \| Hypertensive crisis \| 1 HP:0001684 \| Secundum atrial septal defect \| 1 HP:0001709 \| Complete heart block \| 1 HP:0001629 \| Ventricular septal defects \| 1 HP:0009800 \| gestational diabetes \| 1 HP:0001657 \| Prolonged QT interval \| 1 HP:0002870 \| Obstructive sleep apnea \| 1 HP:0003546 \| Exercise intolerance \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0000716 \| Depression \| 1 HP:0009064 \| Generalized lipodystrophy \| 1 HP:0003159 \| Hyperoxaluria \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0012251 \| ST segment elevation \| 1 HP:0010617 \| Cardiac fibroma \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0001009 \| Telangiectases \| 1 HP:0002045 \| Abnormally low body temperature \| 1 HP:0010614 \| Fibroma \| 1 HP:0006682 \| Premature ventricular contractions \| 1 HP:0002239 \| Gastrointestinal hemorrhage \| 1 HP:0001647 \| Bicuspid aortic valve \| 1 HP:0012817 \| Noncompaction of the ventricular myocardium \| 1 HP:0012196 \| Periodic respiration \| 1 HP:0000100 \| Nephrosis \| 1 HP:0012531 \| Pain \| 1 HP:0001678 \| Atrioventricular block \| 1 HP:0002666 \| Pheochromocytoma \| 1 HP:0002584 \| Intestinal hemorrhage \| 1 HP:0001663 \| Ventricular fibrillation \| 1 HP:0100749 \| Thoracic pain \| 1 HP:0001878 \| Haemolytic anaemia \| 1 HP:0100598 \| Pulmonary oedema \| 1 HP:0012622 \| Chronic kidney disease \| 1 HP:0001660 \| Common arterial trunk \| 1 HP:0002486 \| Myotonia \| 1 HP:0000365 \| Hearing impairment \| 1 HP:0001251 \| Ataxia \| 1 HP:0003287 \| Abnormality of mitochondrial metabolism \| 1 HP:0000969 \| Dropsy \| 1 HP:0001631 \| Atria septal defect \| 1 HP:0006690 \| Myocardial calcification \| 1 HP:0100614 \| Muscle inflammation \| 1

Disease ID	410
Disease	hypertrophic cardiomyopathy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:120) C2712322 \| tachycardia C2700530 \| fabry disease C2697420 \| central core disease C2348362 \| septal myocardial infarction C2215935 \| complete heart block C2108112 \| ventricular fibrillation C2063376 \| diastolic mitral regurgitation C2041142 \| left bundle branch block C1963244 \| supraventricular tachycardia C1963220 \| pulmonary hypertension C1963158 \| left ventricular diastolic dysfunction C1962971 \| myocarditis C1959583 \| myocardial failure C1956346 \| coronary artery disease C1956257 \| pulmonary stenosis C1704212 \| embolism C1550639 \| fistula C1541923 \| infective endocarditis C1521999 \| acute myocardial infarction C1400513 \| transmural myocardial infarction C1393529 \| vascular complications C1388902 \| asynergy C1313980 \| ischemic heart disease C1135196 \| diastolic heart failure C1090821 \| sepsis C0948355 \| myocardial bridging C0948355 \| myocardial bridge C0948268 \| hemodynamic instability C0856169 \| endothelial dysfunction C0796095 \| c syndrome C0750197 \| sustained ventricular tachycardia C0750194 \| non-sustained ventricular tachycardia C0746604 \| mitral valve endocarditis C0741299 \| atrial thrombus C0700361 \| distress C0519097 \| left ventricular aneurysm C0455683 \| congenital heart disease C0432474 \| klinefelter syndrome C0428811 \| mitral annular calcification C0427008 \| stiffness C0426768 \| o sign C0392077 \| cardiac sarcoidosis C0376293 \| stigmata C0344955 \| ventricular septal hypertrophy C0344431 \| monomorphic ventricular tachycardia C0340861 \| electromechanical dissociation C0340486 \| induced ventricular tachycardia C0340375 \| subaortic stenosis C0302148 \| thrombus C0264766 \| rheumatic mitral stenosis C0264733 \| ventricular dilatation C0264716 \| chronic heart failure C0264695 \| subendocardial ischemia C0264686 \| coronary embolism C0264684 \| coronary arteritis C0264201 \| segmental dysfunction C0262405 \| cerebral dysfunction C0241885 \| exercise intolerance C0240035 \| interstitial fibrosis C0235574 \| intravascular haemolysis C0235480 \| paroxysmal atrial fibrillation C0232306 \| left ventricular hypertrophy C0232305 \| right ventricular hypertrophy C0232288 \| exertional chest pain C0232276 \| diastolic rumble C0232197 \| fibrillation C0206157 \| nemaline myopathy C0206146 \| myocardial stunning C0206145 \| stunned myocardium C0205700 \| asymmetric septal hypertrophy C0155686 \| acute myocarditis C0151744 \| myocardial ischemia C0151744 \| cardiac ischemia C0151517 \| complete atrioventricular block C0149721 \| lv hypertrophy C0149721 \| left ventricular enlargement C0086439 \| hypokinesis C0043202 \| wolff-parkinson-white (wpw) syndrome C0042420 \| vasovagal syncope C0040128 \| thyroid diseases C0040038 \| thromboembolism C0039240 \| supraventricular tachycardias C0039070 \| syncope C0038454 \| strokes C0038454 \| stroke C0035619 \| right ventricular outflow obstruction C0034091 \| pulmonary veno-occlusive disease C0034089 \| pulmonary valve stenosis C0034063 \| pulmonary oedema C0031880 \| pickwickian syndrome C0027122 \| muscle calcification C0027051 \| myocardial infarction C0026850 \| muscular dystrophy C0026267 \| mitral valve prolapse C0026266 \| mitral regurgitation C0026266 \| mitral insufficiency C0026266 \| mitral incompetence C0024141 \| systemic lupus erythematosus C0023213 \| left ventricular outflow obstruction C0022116 \| ischemia C0022116 \| ischaemia C0020649 \| hypotension C0018802 \| congestive heart failure C0018801 \| heart failure C0018801 \| cardiac failure C0016719 \| friedreich's ataxia C0016522 \| patent foramen ovale C0014122 \| infectious endocarditis C0014118 \| endocarditis C0013384 \| dyskinesis C0010073 \| coronary vasospasm C0010051 \| coronary artery aneurysm C0008031 \| chest pain C0003504 \| aortic regurgitation C0002962 \| stenocardia C0002962 \| angina pectoris C0002940 \| aneurysms C0002940 \| aneurysm C0002878 \| hemolytic anemia C0002878 \| haemolytic anaemia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:51) C0232197 \| fibrillation \| 23 C0018801 \| heart failure \| 21 C0149721 \| left ventricular hypertrophy \| 12 C0039231 \| tachycardia \| 12 C0002940 \| aneurysm \| 8 C0022116 \| ischemia \| 7 C0014118 \| endocarditis \| 6 C0427008 \| stiffness \| 4 C1273070 \| left ventricular diastolic dysfunction \| 4 C0018802 \| congestive heart failure \| 4 C0018801 \| cardiac failure \| 4 C0235480 \| paroxysmal atrial fibrillation \| 3 C0023213 \| left ventricular outflow obstruction \| 3 C0232605 \| regurgitation \| 3 C0026266 \| mitral regurgitation \| 3 C0002986 \| fabry disease \| 3 C0020542 \| pulmonary hypertension \| 3 C0040038 \| thromboembolism \| 2 C0796095 \| c syndrome \| 2 C0014121 \| infective endocarditis \| 2 C0264695 \| subendocardial ischemia \| 2 C0344431 \| monomorphic ventricular tachycardia \| 2 C0519097 \| left ventricular aneurysm \| 2 C0039070 \| syncope \| 2 C0392464 \| ventricular aneurysm \| 1 C0008031 \| chest pain \| 1 C0026266 \| mitral valve regurgitation \| 1 C0016719 \| friedreich's ataxia \| 1 C0241885 \| exercise intolerance \| 1 C0003507 \| aortic stenosis \| 1 C0028326 \| noonan syndrome \| 1 C0746604 \| mitral valve endocarditis \| 1 C0002940 \| aneurysms \| 1 C0013922 \| embolism \| 1 C0149721 \| lv hypertrophy \| 1 C0948355 \| myocardial bridging \| 1 C0027051 \| myocardial infarction \| 1 C0155626 \| acute myocardial infarction \| 1 C0027051 \| myocardial infarct \| 1 C0042510 \| ventricular fibrillation \| 1 C0151517 \| complete heart block \| 1 C0034063 \| pulmonary oedema \| 1 C0151517 \| complete atrioventricular block \| 1 C0750197 \| sustained ventricular tachycardia \| 1 C0205700 \| asymmetric septal hypertrophy \| 1 C0013404 \| dyspnea \| 1 C0016169 \| fistula \| 1 C0020649 \| hypotension \| 1 C0002878 \| hemolytic anemia \| 1 C0022116 \| ischaemia \| 1 C1388902 \| asynergy \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:62)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893823	18820258	7134	TNNC1	umls:C0007194	BeFree	Two novel mutations (G159D and L29Q) in cardiac troponin C (CTnC) associate their phenotypic outcomes with dilated (DCM) and hypertrophic cardiomyopathy (HCM), respectively.	0.009901391	2008	TNNC1	3	52451285	C	T
rs104894201	24180415	8548	BLZF1	umls:C0007194	BeFree	The human mutation R120G in the αB-crystallin (CRYAB) causes a multisystemic disease that is characterized by hypertrophic cardiomyopathy and cytoplasmic protein aggregates.	0.000271442	2015	CRYAB	11	111908934	T	C
rs104894201	24180415	1410	CRYAB	umls:C0007194	BeFree	The human mutation R120G in the αB-crystallin (CRYAB) causes a multisystemic disease that is characterized by hypertrophic cardiomyopathy and cytoplasmic protein aggregates.	0.000271442	2015	CRYAB	11	111908934	T	C
rs104894501	16043485	7168	TPM1	umls:C0007194	BeFree	Five Tm mutations were chosen for this study: the hypertrophic cardiomyopathy (HCM) mutations E62Q, E180G, and L185R and the dilated cardiomyopathy (DCM) mutations E40K and E54K.	0.033971298	2005	TPM1	15	63044030	G	A,T
rs104894502	10900175	7168	TPM1	umls:C0007194	BeFree	Effect of hypertrophic cardiomyopathy mutations in human cardiac muscle alpha -tropomyosin (Asp175Asn and Glu180Gly) on the regulatory properties of human cardiac troponin determined by in vitro motility assay.	0.033971298	2000	TPM1	15	63060915	A	G,T
rs104894502	24585742	7168	TPM1	umls:C0007194	BeFree	We used an HCM mouse model with an E180G mutation in α-tropomyosin (Tm180) that demonstrates increased myofilament Ca(2+) sensitivity, severe hypertrophy, and diastolic dysfunction.	0.033971298	2015	TPM1	15	63060915	A	G,T
rs104894502	16043485	7168	TPM1	umls:C0007194	BeFree	Five Tm mutations were chosen for this study: the hypertrophic cardiomyopathy (HCM) mutations E62Q, E180G, and L185R and the dilated cardiomyopathy (DCM) mutations E40K and E54K.	0.033971298	2005	TPM1	15	63060915	A	G,T
rs104894502	21376702	7168	TPM1	umls:C0007194	BeFree	Hypertrophic cardiomyopathy-causing Asp175asn and Glu180gly Tpm1 mutations shift tropomyosin strands further towards the open position during the ATPase cycle.	0.033971298	2011	TPM1	15	63060915	A	G,T
rs104894503	18394456	4879	NPPB	umls:C0007194	BeFree	In conclusion, in patients with nonobstructive HC attributable to an Asp175Asn mutation in the alpha-tropomyosin gene, elevated NT-pro-BNP levels are associated with incipient LV remodeling, suggesting that NT-pro-BNP could be used to diagnose insidious unfavorable LV remodeling in HC.	0.005991584	2008	TPM1	15	63060899	G	A
rs104894503	12473556	4625	MYH7	umls:C0007194	BeFree	Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as benign defects, associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).	0.05446026	2002	TPM1	15	63060899	G	A
rs104894503	24888384	5554	PRH1	umls:C0007194	BeFree	In the nationwide FinHCM Study including 306 Finnish patients with hypertrophic cardiomyopathy (HCM), we have previously identified two founder mutations in the alpha-tropomyosin (TPM1-D175N) and myosin-binding protein C (MYBPC3-Q1061X) genes, accounting for 18% of all cases.Objective.	0.010586233	2015	TPM1	15	63060899	G	A
rs104894503	9060904	7168	TPM1	umls:C0007194	BeFree	In contrast, prognosis reflected genotype; near normal life expectancy is found in hypertrophic cardiomyopathy caused by the alpha-tropomyosin mutation Asp175Asn.	0.033971298	1997	TPM1	15	63060899	G	A
rs104894503	18394456	7168	TPM1	umls:C0007194	BeFree	Significance of plasma levels of N-terminal Pro-B-type natriuretic peptide on left ventricular remodeling in non-obstructive hypertrophic cardiomyopathy attributable to the Asp175Asn mutation in the alpha-tropomyosin gene.	0.033971298	2008	TPM1	15	63060899	G	A
rs104894503	12473556	7139	TNNT2	umls:C0007194	BeFree	Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as benign defects, associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).	0.155829122	2002	TPM1	15	63060899	G	A
rs104894503	16014439	7168	TPM1	umls:C0007194	BeFree	Cine MR imaging of myocardial contractile impairment in patients with hypertrophic cardiomyopathy attributable to Asp175Asn mutation in the alpha-tropomyosin gene.	0.033971298	2005	TPM1	15	63060899	G	A
rs104894503	17556170	7168	TPM1	umls:C0007194	BeFree	Myocardial perfusion, oxidative metabolism, and free fatty acid uptake in patients with hypertrophic cardiomyopathy attributable to the Asp175Asn mutation in the alpha-tropomyosin gene: a positron emission tomography study.	0.033971298	2007	TPM1	15	63060899	G	A
rs104894503	12511681	7168	TPM1	umls:C0007194	BeFree	To assess first-pass magnetic resonance (MR) imaging in the evaluation of perfusion impairment in a genetically homogeneous population of patients with hypertrophic cardiomyopathy (HCM) and the Asp175Asn mutation of the alpha-tropomyosin gene and to evaluate the association between hypertrophy and perfusion.	0.033971298	2003	TPM1	15	63060899	G	A
rs104894503	24888384	7168	TPM1	umls:C0007194	BeFree	In the nationwide FinHCM Study including 306 Finnish patients with hypertrophic cardiomyopathy (HCM), we have previously identified two founder mutations in the alpha-tropomyosin (TPM1-D175N) and myosin-binding protein C (MYBPC3-Q1061X) genes, accounting for 18% of all cases.Objective.	0.033971298	2015	TPM1	15	63060899	G	A
rs104894503	10900175	7168	TPM1	umls:C0007194	BeFree	Effect of hypertrophic cardiomyopathy mutations in human cardiac muscle alpha -tropomyosin (Asp175Asn and Glu180Gly) on the regulatory properties of human cardiac troponin determined by in vitro motility assay.	0.033971298	2000	TPM1	15	63060899	G	A
rs104894503	14734051	7168	TPM1	umls:C0007194	BeFree	Inducibility of life-threatening ventricular arrhythmias is related to maximum left ventricular thickness and clinical markers of sudden cardiac death in patients with hypertrophic cardiomyopathy attributable to the Asp175Asn mutation in the alpha-tropomyosin gene.	0.033971298	2004	TPM1	15	63060899	G	A
rs104894503	21376702	7168	TPM1	umls:C0007194	BeFree	Hypertrophic cardiomyopathy-causing Asp175asn and Glu180gly Tpm1 mutations shift tropomyosin strands further towards the open position during the ATPase cycle.	0.033971298	2011	TPM1	15	63060899	G	A
rs104894505	16043485	7168	TPM1	umls:C0007194	BeFree	Five Tm mutations were chosen for this study: the hypertrophic cardiomyopathy (HCM) mutations E62Q, E180G, and L185R and the dilated cardiomyopathy (DCM) mutations E40K and E54K.	0.033971298	2005	TPM1	15	63044072	G	A
rs104894724	12242271	7137	TNNI3	umls:C0007194	BeFree	The heightened Ca2+ sensitivity of force found with hypertrophic cardiomyopathy (HCM)-associated mutant cardiac troponin I (cTnIR145G; R146G in rodents) has been postulated to be an underlying cause of hypertrophic growth and premature sudden death in humans and in animal models of the disease.	0.040810884	2002	TNNI3	19	55154146	G	C,A
rs104894724	18430738	7137	TNNI3	umls:C0007194	BeFree	Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G in transgenic mice.	0.040810884	2008	TNNI3	19	55154146	G	C,A
rs116840805	14645200	859	CAV3	umls:C0007194	BeFree	Overexpression of P104L mutant caveolin-3 in mice develops hypertrophic cardiomyopathy with enhanced contractility in association with increased endothelial nitric oxide synthase activity.	0.000814326	2004	CAV3;SSUH2	3	8745725	C	T
rs116840805	14645200	4846	NOS3	umls:C0007194	BeFree	Overexpression of P104L mutant caveolin-3 in mice develops hypertrophic cardiomyopathy with enhanced contractility in association with increased endothelial nitric oxide synthase activity.	0.005991584	2004	CAV3;SSUH2	3	8745725	C	T
rs121908991	17667862	353	APRT	umls:C0007194	BeFree	The report of a pathogenic mutation (R531Q) in the gene (PRKAG2) encoding the gamma2 subunit of AMP-activated protein kinase (AMPK) in three infants with congenital hypertrophic cardiomyopathy, glycogen storage, and pseudo PHK deficiency prompted us to screen this gene in our patient.	0.001357209	2007	PRKAG2	7	151560610	C	T,A
rs121908991	15877279	51422	PRKAG2	umls:C0007194	BeFree	Thus, recurrent heterozygous R531Q missense mutations in PRKAG2 give rise to a massive nonlysosomal cardiac glycogenosis of fetal symptomatic onset and rapidly fatal course, constituting a genotypically and clinically distinct variant of hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome.	0.011615919	2005	PRKAG2	7	151560610	C	T,A
rs121908991	17667862	51422	PRKAG2	umls:C0007194	BeFree	The report of a pathogenic mutation (R531Q) in the gene (PRKAG2) encoding the gamma2 subunit of AMP-activated protein kinase (AMPK) in three infants with congenital hypertrophic cardiomyopathy, glycogen storage, and pseudo PHK deficiency prompted us to screen this gene in our patient.	0.011615919	2007	PRKAG2	7	151560610	C	T,A
rs121913624	24928957	4625	MYH7	umls:C0007194	BeFree	Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403Q MYH7 mutation.	0.05446026	2015	MYH7	14	23429278	C	T,A
rs121913627	24566549	6520	SLC3A2	umls:C0007194	BeFree	In this study we aimed to detect the presence of R403QLW, V606M, K615N, and R663H mutations in beta-myosin heavy-chain gene (MYH7) and figure out the genotype-phenotype correlations in Turkish patients with HCM.	0.022258234	2015	MYH7	14	23427657	C	T
rs121913627	24566549	4625	MYH7	umls:C0007194	BeFree	In this study we aimed to detect the presence of R403QLW, V606M, K615N, and R663H mutations in beta-myosin heavy-chain gene (MYH7) and figure out the genotype-phenotype correlations in Turkish patients with HCM.	0.05446026	2015	MYH7	14	23427657	C	T
rs121913627	12473556	7139	TNNT2	umls:C0007194	BeFree	Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as benign defects, associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).	0.155829122	2002	MYH7	14	23427657	C	T
rs121913627	12473556	4625	MYH7	umls:C0007194	BeFree	Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as benign defects, associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).	0.05446026	2002	MYH7	14	23427657	C	T
rs121913627	17383184	4625	MYH7	umls:C0007194	BeFree	Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy in a family with a MYH7 Val606Met mutation (exon 16).	0.05446026	2007	MYH7	14	23427657	C	T
rs121913631	12473556	7139	TNNT2	umls:C0007194	BeFree	Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as benign defects, associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).	0.155829122	2002	MYH7	14	23424107	G	C
rs121913631	12473556	4625	MYH7	umls:C0007194	BeFree	Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as benign defects, associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).	0.05446026	2002	MYH7	14	23424107	G	C
rs121913633	12473556	7139	TNNT2	umls:C0007194	BeFree	Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as benign defects, associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).	0.155829122	2002	MYH7	14	23431447	C	T
rs121913633	12473556	4625	MYH7	umls:C0007194	BeFree	Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as benign defects, associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).	0.05446026	2002	MYH7	14	23431447	C	T
rs121913636	12473556	4625	MYH7	umls:C0007194	BeFree	Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as benign defects, associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).	0.05446026	2002	MYH7	14	23428540	A	C
rs121913636	12473556	7139	TNNT2	umls:C0007194	BeFree	Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as benign defects, associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).	0.155829122	2002	MYH7	14	23428540	A	C
rs121913641	12473556	7139	TNNT2	umls:C0007194	BeFree	Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as benign defects, associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).	0.155829122	2002	MYH7	14	23425970	C	T
rs121913641	12473556	4625	MYH7	umls:C0007194	BeFree	Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as benign defects, associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).	0.05446026	2002	MYH7	14	23425970	C	T
rs121964857	20038417	7139	TNNT2	umls:C0007194	BeFree	We studied the TNNT2 gene in 127 patients with hypertrophic cardiomyopathy and identified three mutations in patients from four families (3.1%): the Phe87Leu mutation, which has not been previously reported, the Arg278Cys mutation (two families) and the Asp271Ile mutation.	0.155829122	2009	TNNT2	1	201359245	G	A
rs148395034	24436435	84676	TRIM63	umls:C0007194	BeFree	Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?	0.000814326	2014	TRIM63	1	26058482	G	A
rs1799983	15778808	4846	NOS3	umls:C0007194	BeFree	Endothelial nitric oxide synthase gene polymorphism (Glu298Asp) in patients with coexistent hypertrophic cardiomyopathy and coronary spastic angina.	0.005991584	2005	NOS3	7	150999023	T	G
rs199476305	16043485	7168	TPM1	umls:C0007194	BeFree	Five Tm mutations were chosen for this study: the hypertrophic cardiomyopathy (HCM) mutations E62Q, E180G, and L185R and the dilated cardiomyopathy (DCM) mutations E40K and E54K.	0.033971298	2005	TPM1	15	63044096	G	C
rs199476314	16043485	7168	TPM1	umls:C0007194	BeFree	Five Tm mutations were chosen for this study: the hypertrophic cardiomyopathy (HCM) mutations E62Q, E180G, and L185R and the dilated cardiomyopathy (DCM) mutations E40K and E54K.	0.033971298	2005	TPM1	15	63060930	T	G
rs200422162	24888384	5554	PRH1	umls:C0007194	BeFree	In the nationwide FinHCM Study including 306 Finnish patients with hypertrophic cardiomyopathy (HCM), we have previously identified two founder mutations in the alpha-tropomyosin (TPM1-D175N) and myosin-binding protein C (MYBPC3-Q1061X) genes, accounting for 18% of all cases.Objective.	0.010586233	2015	PRH1;TAS2R43;PRH1-PRR4;PRH1-TAS2R14	12	11091704	T	C
rs200422162	24888384	7168	TPM1	umls:C0007194	BeFree	In the nationwide FinHCM Study including 306 Finnish patients with hypertrophic cardiomyopathy (HCM), we have previously identified two founder mutations in the alpha-tropomyosin (TPM1-D175N) and myosin-binding protein C (MYBPC3-Q1061X) genes, accounting for 18% of all cases.Objective.	0.033971298	2015	PRH1;TAS2R43;PRH1-PRR4;PRH1-TAS2R14	12	11091704	T	C
rs201786090	24730657	11155	LDB3	umls:C0007194	BeFree	Here we report the identification of a highly conserved ZASP G54S mutation classified as a variant of unknown significance in a sample of an adult with hypertrophic cardiomyopathy (HCM).	0.002638474	2015	LDB3	10	86679433	G	A
rs267607123	19506933	7134	TNNC1	umls:C0007194	BeFree	The cardiac troponin C mutation Leu29Gln found in a patient with hypertrophic cardiomyopathy does not alter contractile parameters in skinned murine myocardium.	0.009901391	2009	TNNC1	3	52452222	A	T
rs267607123	18820258	7134	TNNC1	umls:C0007194	BeFree	Two novel mutations (G159D and L29Q) in cardiac troponin C (CTnC) associate their phenotypic outcomes with dilated (DCM) and hypertrophic cardiomyopathy (HCM), respectively.	0.009901391	2008	TNNC1	3	52452222	A	T
rs267607128	22086914	7137	TNNI3	umls:C0007194	BeFree	Generation and functional characterization of knock-in mice harboring the cardiac troponin I-R21C mutation associated with hypertrophic cardiomyopathy.	0.040810884	2012	TNNI3	19	55157097	G	A
rs267607128	25961037	7137	TNNI3	umls:C0007194	BeFree	We investigated the effect of the hypertrophic cardiomyopathy-linked R21C (arginine to cysteine) mutation in human cardiac troponin I (cTnI) on the contractile properties and myofilament protein phosphorylation in papillary muscle preparations from left (LV) and right (RV) ventricles of homozygous R21C(+/+) knock-in mice.	0.040810884	2014	TNNI3	19	55157097	G	A
rs397507550	21910226	5781	PTPN11	umls:C0007194	BeFree	Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His.	0.004071628	2011	PTPN11	12	112489106	G	C
rs397515985	21832052	4607	MYBPC3	umls:C0007194	BeFree	One variant (D145E) that was previously reported in association with hypertrophic cardiomyopathy and that produced results in vivo in this study consistent with prior hypertrophic cardiomyopathy functional studies was found associated with the MYBPC3 P910T rare variant, likely contributing to the observed DCM phenotype.	0.206789095	2011	MYBPC3	11	47335886	G	T
rs397516847	22489623	7134	TNNC1	umls:C0007194	BeFree	The objective of this work was to investigate the effect of hypertrophic cardiomyopathy-linked A8V and E134D mutations in cardiac troponin C (cTnC) on the response of reconstituted thin filaments to calcium upon phosphorylation of cardiac troponin I (cTnI) by protein kinase A.	0.009901391	2012	TNNC1	3	52451443	C	A
rs397516847	22489623	7137	TNNI3	umls:C0007194	BeFree	The objective of this work was to investigate the effect of hypertrophic cardiomyopathy-linked A8V and E134D mutations in cardiac troponin C (cTnC) on the response of reconstituted thin filaments to calcium upon phosphorylation of cardiac troponin I (cTnI) by protein kinase A.	0.040810884	2012	TNNC1	3	52451443	C	A
rs77615401	18175163	7137	TNNI3	umls:C0007194	BeFree	The TNNI3 alteration, replacing proline with serine (Pro82Ser), has been previously implicated in elderly-onset hypertrophic cardiomyopathy, although its pathogenicity is not clear.	0.040810884	2008	TNNI3	19	55156239	G	A
rs80190679	12473556	7139	TNNT2	umls:C0007194	BeFree	Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as benign defects, associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).	0.155829122	2002	SLC3A2	11	62881991	G	A
rs80190679	12473556	4625	MYH7	umls:C0007194	BeFree	Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as benign defects, associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).	0.05446026	2002	SLC3A2	11	62881991	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:187)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
1	43596384	rs16830359	G	A	rs16830359	21348951	1.00E-07	additive, recessive	NA	NA	851 Old Order Amish individuals	Amish(851)	ALL(851)	EUR(851)	ALL(851)	Cardiac hypertrophy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	D006332	Cardiomegaly	EFOID:0002503	cardiac hypertrophy	Heart disease	NA	Research Support, N.I.H., Extramural	G	NA
1	97898232	rs7517433	T	C	rs7517433	pha003052	3.50E-05	phs000221	phs000501	0.26	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs7517433-T	NA	T	DPYD	intron
1	97908878	rs1415681	T	G	rs1415681	pha003052	4.08E-05	phs000221	phs000501	0.26	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1415681-T	NA	T	DPYD	intron
1	158074220	rs17421546	G	A	rs17421546	pha003052	6.95E-05	phs000221	phs000501	0.39	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs17421546-A	NA	G	NA	NA
1	167739821	rs4472738	C	A	rs4472738	pha003052	6.87E-05	phs000221	phs000501	0.2	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs4472738-A	NA	A	MPZL1	intron
1	196024294	rs1451916	A	C	rs1451916	pha003052	7.38E-05	phs000221	phs000501	0.23	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1451916-C	NA	T	NA	NA
1	196024294	rs375562694	A	AT	rs1451916	pha003052	7.38E-05	phs000221	phs000501	0.23	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1451916-C	NA	T	NA	NA
1	196024294	rs549773131	A	AT	rs1451916	pha003052	7.38E-05	phs000221	phs000501	0.23	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1451916-C	NA	T	NA	NA
1	200471464	rs6680807	C	A	rs6680807	pha003052	9.97E-05	phs000221	phs000501	0.26	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs6680807-C	NA	A	NA	NA
1	208757586	rs17259784	G	C	rs17259784	21348951	6.00E-06	recessive	NA	NA	851 Old Order Amish individuals	Amish(851)	ALL(851)	EUR(851)	ALL(851)	Cardiac hypertrophy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	D006332	Cardiomegaly	EFOID:0002503	cardiac hypertrophy	Heart disease	NA	Research Support, N.I.H., Extramural	G	NA
1	216716537	rs12757165	A	G	rs12757165	21348951	1.00E-07	additive	NA	NA	851 Old Order Amish individuals	Amish(851)	ALL(851)	EUR(851)	ALL(851)	Cardiac hypertrophy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	D006332	Cardiomegaly	EFOID:0002503	cardiac hypertrophy	Heart disease	NA	Research Support, N.I.H., Extramural	A	ESRRG
1	218036817	rs11117953	G	A	rs11117953	pha003052	7.11E-05	phs000221	phs000501	0.41	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs11117953-A	NA	G	SPATA17	intron
1	234382599	rs12119646	T	C	rs12119646	pha003052	4.25E-05	phs000221	phs000501	0.33	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs12119646-C	NA	T	SLC35F3	intron
1	234384658	rs12024374	G	A	rs12024374	pha003052	4.80E-05	phs000221	phs000501	0.33	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs12024374-A	NA	G	SLC35F3	intron
2	15229630	rs13391879	T	C	rs13391879	pha003052	9.73E-05	phs000221	phs000501	0.3	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs13391879-C	NA	C	NA	NA
2	31570689	rs4952085	G	A	rs4952085	pha003052	5.18E-05	phs000221	phs000501	0.22	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs4952085-G	NA	A	XDH	intron
2	31571786	rs1884725	A	G	rs1884725	pha003052	6.81E-05	phs000221	phs000501	0.22	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1884725-A	NA	G	XDH	cds-synon
2	71403616	rs413693	T	G	rs413693	pha003052	1.48E-06	phs000221	phs000501	0.28	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs413693-G	NA	T	NA	NA
2	71436269	rs2418896	G	A	rs2418896	pha003052	2.76E-06	phs000221	phs000501	0.28	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs2418896-G	NA	A	PAIP2B	intron
2	71703364	rs12477276	A	G	rs12477276	pha003052	4.20E-06	phs000221	phs000501	0.21	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs12477276-G	NA	G	DYSF	intron
2	102690727	rs12624116	C	T	rs12624116	pha003052	7.37E-05	phs000221	phs000501	0.24	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs12624116-T	NA	C	NA	NA
2	102691310	rs1558644	A	G	rs1558644	pha003052	5.20E-05	phs000221	phs000501	0.24	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1558644-G	NA	T	NA	NA
2	137407012	rs6711718	T	C	rs6711718	pha003052	5.14E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs6711718-T	NA	T	NA	NA
2	137493912	rs12476818	T	C	rs12476818	pha003052	9.60E-05	phs000221	phs000501	0.28	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs12476818-C	NA	T	NA	NA
2	137495815	rs12479021	T	G	rs12479021	pha003052	7.44E-05	phs000221	phs000501	0.28	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs12479021-G	NA	T	NA	NA
2	213165193	rs17346933	A	G	rs17346933	pha003052	5.77E-05	phs000221	phs000501	0.23	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs17346933-G	NA	A	ERBB4	intron
3	12626516	rs3729931	G	A	rs3729931	21348951	7.00E-07	dominant	NA	NA	851 Old Order Amish individuals	Amish(851)	ALL(851)	EUR(851)	ALL(851)	Cardiac hypertrophy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	D006332	Cardiomegaly	EFOID:0002503	cardiac hypertrophy	Heart disease	NA	Research Support, N.I.H., Extramural	T	RAF1
3	29357063	rs6549924	C	T	rs6549924	pha003052	3.58E-06	phs000221	phs000501	0.22	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs6549924-T	NA	C	RBMS3	intron
3	29445931	rs13079920	G	A	rs13079920	pha003052	8.58E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs13079920-A	NA	G	RBMS3	intron
3	38940741	rs4676588	C	T	rs4676588	pha003052	9.55E-06	phs000221	phs000501	0.22	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs4676588-C	NA	G	SCN11A	intron
3	38958010	rs11716902	G	T	rs11716902	pha003052	6.09E-06	phs000221	phs000501	0.21	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs11716902-G	NA	G	SCN11A	intron
3	42433305	rs17074351	T	C	rs17074351	pha003052	8.27E-05	phs000221	phs000501	0.2	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs17074351-C	NA	T	NA	NA
3	61227198	rs6802718	G	A	rs6802718	pha003052	9.76E-05	phs000221	phs000501	0.2	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs6802718-A	NA	A	FHIT	intron
3	76954766	rs1166994	A	C	rs1166994	pha003052	5.02E-05	phs000221	phs000501	0.2	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1166994-A	NA	A	ROBO2	intron
3	109204413	rs769554	C	T	rs769554	21348951	3.00E-06	additive	NA	NA	851 Old Order Amish individuals	Amish(851)	ALL(851)	EUR(851)	ALL(851)	Cardiac hypertrophy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	D006332	Cardiomegaly	EFOID:0002503	cardiac hypertrophy	Heart disease	NA	Research Support, N.I.H., Extramural	G	FLJ25363
3	170419712	rs531404	A	G	rs531404	pha003052	5.27E-05	phs000221	phs000501	0.4	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs531404-A	NA	C	NA	NA
4	12538050	rs12511228	T	C	rs12511228	pha003052	3.04E-06	phs000221	phs000501	0.31	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs12511228-T	NA	C	NA	NA
4	21735319	rs7697475	A	G	rs7697475	pha003052	9.71E-05	phs000221	phs000501	0.21	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs7697475-G	NA	G	KCNIP4	intron
4	21781997	rs1868744	A	C	rs1868744	pha003052	9.89E-05	phs000221	phs000501	0.21	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1868744-A	NA	A	KCNIP4	intron
4	84287807	rs4320128	A	G	rs4320128	pha003052	9.78E-05	phs000221	phs000501	0.18	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs4320128-A	NA	A	NA	NA
4	110017182	rs11736110	C	T	rs11736110	pha003052	9.54E-05	phs000221	phs000501	0.38	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs11736110-T	NA	C	COL25A1	intron
4	164474770	rs9631750	T	C	rs9631750	pha003052	7.89E-06	phs000221	phs000501	0.38	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs9631750-C	NA	T	MARCH1	intron
4	189144799	rs3924963	C	T	rs3924963	pha003052	1.90E-05	phs000221	phs000501	0.27	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs3924963-C	NA	C	NA	NA
5	2856417	rs2934543	C	T	rs2934543	pha003052	9.23E-05	phs000221	phs000501	0.26	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs2934543-C	NA	A	NA	NA
5	2861216	rs16870583	T	C	rs16870583	pha003052	5.06E-05	phs000221	phs000501	0.27	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs16870583-C	NA	T,C	NA	NA
5	19739333	rs1158558	G	T	rs1158558	pha003052	8.06E-05	phs000221	phs000501	0.27	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1158558-G	NA	C	CDH18	intron
5	83232813	rs4368707	C	A	rs4368707	pha003052	4.50E-05	phs000221	phs000501	0.21	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs4368707-C	NA	C	NA	NA
5	85611991	rs16902182	T	C	rs16902182	pha003052	2.53E-05	phs000221	phs000501	0.44	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs16902182-C	NA	C	NA	NA
5	85631025	rs10514277	C	A	rs10514277	pha003052	4.25E-05	phs000221	phs000501	0.44	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs10514277-A	NA	C	NA	NA
5	86905677	rs4976236	T	G	rs4976236	pha003052	1.34E-06	phs000221	phs000501	0.44	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs4976236-G	NA	T	NA	NA
5	86913066	rs11749237	A	G	rs11749237	pha003052	9.34E-05	phs000221	phs000501	0.29	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs11749237-G	NA	C	NA	NA
5	86972448	rs840814	G	A	rs840814	pha003052	1.12E-06	phs000221	phs000501	0.45	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs840814-A	NA	G	NA	NA
5	87000310	rs866821	C	T	rs866821	pha003052	6.54E-05	phs000221	phs000501	0.3	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs866821-T	NA	T	NA	NA
5	87001557	rs840831	G	A	rs840831	pha003052	1.12E-06	phs000221	phs000501	0.45	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs840831-A	NA	A	NA	NA
5	87450438	rs4916890	T	C	rs4916890	pha003052	1.45E-05	phs000221	phs000501	0.41	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs4916890-T	NA	C	NA	NA
5	111532234	rs11739263	A	G	rs11739263	pha003052	3.59E-05	phs000221	phs000501	0.33	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs11739263-G	NA	A	EPB41L4A	intron
5	142017860	rs152528	C	T	rs152528	21348951	8.00E-07	recessive	NA	NA	851 Old Order Amish individuals	Amish(851)	ALL(851)	EUR(851)	ALL(851)	Cardiac hypertrophy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	D006332	Cardiomegaly	EFOID:0002503	cardiac hypertrophy	Heart disease	NA	Research Support, N.I.H., Extramural	G	FGF1
5	174846655	rs265992	C	A	rs265992	21828061	1.20E-06	Left ventricular hypertrophy (LVH) assessed by electrocardiogram (ECG)	NA	NA	398 Korean cases; 8432 Korean controls	Korean(8830)	ALL(8830)	ASN(8830)	ALL(8830)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	NA	Research Support, Non-U.S. Gov't	C	NA
5	178950761	rs1344158	G	A	rs1344158	pha003052	8.27E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1344158-A	NA	G	NA	NA
6	858970	rs1572438	C	T	rs1572438	pha003052	4.00E-05	phs000221	phs000501	0.2	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1572438-T	NA	G	NA	NA
6	22246604	rs4236016	C	T	rs4236016	21348951	4.00E-06	additive, recessive	NA	NA	851 Old Order Amish individuals	Amish(851)	ALL(851)	EUR(851)	ALL(851)	Cardiac hypertrophy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	D006332	Cardiomegaly	EFOID:0002503	cardiac hypertrophy	Heart disease	NA	Research Support, N.I.H., Extramural	T	NA
6	24333744	rs4504468	T	G	rs4504468	pha003052	9.38E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs4504468-T	NA	T	DCDC2	intron
6	24654266	rs9295629	G	A	rs9295629	21828061	9.00E-06	Left ventricular hypertrophy (LVH) assessed by electrocardiogram (ECG)	NA	NA	398 Korean cases; 8432 Korean controls	Korean(8830)	ALL(8830)	ASN(8830)	ALL(8830)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	NA	Research Support, Non-U.S. Gov't	G	TDP2
6	24665340	rs3756819	A	C	rs3756819	pha003052	5.55E-05	phs000221	phs000501	0.26	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs3756819-C	NA	T	TDP2	intron
6	27298200	rs9379976	T	C	rs9379976	pha003052	9.56E-07	phs000221	phs000501	0.25	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs9379976-C	NA	T	NA	NA
6	27298279	rs9379977	T	C	rs9379977	pha003052	7.90E-07	phs000221	phs000501	0.25	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs9379977-C	NA	T	NA	NA
6	27298905	rs721600	C	T	rs721600	pha003052	3.44E-07	phs000221	phs000501	0.26	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs721600-T	NA	A	NA	NA
6	27338890	rs9468076	C	T	rs9468076	pha003052	3.45E-06	phs000221	phs000501	0.25	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs9468076-T	NA	T	ZNF204P	intron
6	30093364	rs10947055	T	C	rs10947055	21348951	2.00E-07	additive, recessive	NA	NA	851 Old Order Amish individuals	Amish(851)	ALL(851)	EUR(851)	ALL(851)	Cardiac hypertrophy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	D006332	Cardiomegaly	EFOID:0002503	cardiac hypertrophy	Heart disease	NA	Research Support, N.I.H., Extramural	T	NA
6	31145920	rs887464	C	T	rs887464	pha003052	8.80E-05	phs000221	phs000501	0.18	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs887464-T	NA	G	PSORS1C3	nearGene-5
6	35395618	rs1053049	C	T	rs1053049	pha003052	5.55E-05	phs000221	phs000501	0.22	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1053049-C	NA	C	PPARD	UTR-3
6	104432165	rs4520040	G	A	rs4520040	21348951	3.00E-06	additive	NA	NA	851 Old Order Amish individuals	Amish(851)	ALL(851)	EUR(851)	ALL(851)	Cardiac hypertrophy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	D006332	Cardiomegaly	EFOID:0002503	cardiac hypertrophy	Heart disease	NA	Research Support, N.I.H., Extramural	A	NA
6	109110096	rs568064	T	C	rs568064	pha003052	4.40E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs568064-T	NA	G	NA	NA
6	109116491	rs1268128	C	A	rs1268128	pha003052	3.51E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1268128-C	NA	A	NA	NA
6	109240562	rs13219800	A	G	rs13219800	pha003052	1.19E-05	phs000221	phs000501	0.21	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs13219800-G	NA	A	ARMC2	intron
6	113502071	rs1883973	A	G	rs1883973	pha003052	1.22E-05	phs000221	phs000501	0.4	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1883973-A	NA	C	NA	NA
6	113503020	rs1321023	A	G	rs1321023	pha003052	1.22E-05	phs000221	phs000501	0.04	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1321023-A	NA	C	NA	NA
6	154748630	rs9322464	C	T	rs9322464	pha003052	3.09E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs9322464-T	NA	C	CNKSR3	intron
6	154749087	rs9397717	G	A	rs9397717	pha003052	1.86E-06	phs000221	phs000501	0.22	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs9397717-G	NA	A	CNKSR3	intron
6	154761284	rs6911312	C	A	rs6911312	pha003052	6.56E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs6911312-C	NA	A	CNKSR3	intron
7	5516940	rs7808325	C	T	rs7808325	pha003052	3.37E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs7808325-T	NA	C	FBXL18	UTR-3
7	5520663	rs10281893	G	A	rs10281893	pha003052	3.91E-06	phs000221	phs000501	0.21	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs10281893-A	NA	G	FBXL18	UTR-3
7	5528375	rs10807949	C	T	rs10807949	pha003052	5.05E-05	phs000221	phs000501	0.18	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs10807949-T	NA	C	FBXL18	intron
7	29343177	rs3812338	G	A	rs3812338	pha003052	5.46E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs3812338-A	NA	C	CHN2	intron
7	45464222	rs1917716	C	A	rs1917716	pha003052	8.40E-05	phs000221	phs000501	0.22	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1917716-A	NA	C	NA	NA
7	93182557	rs1000912	C	T	rs1000912	pha003052	2.45E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1000912-C	NA	A	CALCR	intron
7	93192036	rs1548456	T	C	rs1548456	pha003052	3.77E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1548456-T	NA	C	CALCR	intron
7	104215832	rs4400323	C	T	rs4400323	pha003052	7.57E-05	phs000221	phs000501	0.21	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs4400323-T	NA	T	LHFPL3	intron
7	119579473	rs13234712	A	G	rs13234712	pha003052	1.25E-05	phs000221	phs000501	0.21	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs13234712-G	NA	G	NA	NA
7	119583406	rs10233545	G	A	rs10233545	pha003052	4.23E-05	phs000221	phs000501	0.2	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs10233545-A	NA	A	NA	NA
8	11896831	rs7821214	T	C	rs7821214	pha003052	3.55E-05	phs000221	phs000501	0.35	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs7821214-T	NA	C	NA	NA
8	27530475	rs1036710	C	T	rs1036710	pha003052	3.25E-05	phs000221	phs000501	0.4	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1036710-T	NA	C	SCARA3	UTR-3
8	54547981	rs6473877	T	C	rs6473877	pha003052	6.91E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs6473877-T	NA	T	NA	NA
8	61003897	rs6995588	C	T	rs6995588	21348951	2.00E-06	additive, dominant	NA	NA	851 Old Order Amish individuals	Amish(851)	ALL(851)	EUR(851)	ALL(851)	Cardiac hypertrophy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	D006332	Cardiomegaly	EFOID:0002503	cardiac hypertrophy	Heart disease	NA	Research Support, N.I.H., Extramural	C	NA
8	73746989	rs6472704	A	G	rs6472704	pha003052	2.00E-05	phs000221	phs000501	0.22	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs6472704-G	NA	A	KCNB2	intron
8	119095507	rs2445904	C	T	rs2445904	pha003052	4.55E-06	phs000221	phs000501	0.22	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs2445904-T	NA	T	EXT1	intron
8	119095747	rs2468133	C	T	rs2468133	pha003052	3.73E-06	phs000221	phs000501	0.22	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs2468133-C	NA	C	EXT1	intron
8	119106346	rs2445906	C	T	rs2445906	pha003052	2.69E-06	phs000221	phs000501	0.22	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs2445906-C	NA	C	EXT1	intron
8	136735506	rs7460819	C	T	rs7460819	pha003052	5.92E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs7460819-C	NA	T	NA	NA
8	136739516	rs6981947	C	T	rs6981947	pha003052	4.67E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs6981947-C	NA	T	NA	NA
8	138805432	rs6577840	G	A	rs6577840	21828061	7.10E-06	Left ventricular hypertrophy (LVH) assessed by electrocardiogram (ECG)	NA	NA	398 Korean cases; 8432 Korean controls	Korean(8830)	ALL(8830)	ASN(8830)	ALL(8830)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	NA	Research Support, Non-U.S. Gov't	G	NA
8	138805788	rs4909705	T	C	rs4909705	21828061	3.70E-06	Left ventricular hypertrophy (LVH) assessed by electrocardiogram (ECG)	NA	NA	398 Korean cases; 8432 Korean controls	Korean(8830)	ALL(8830)	ASN(8830)	ALL(8830)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	NA	Research Support, Non-U.S. Gov't	T	NA
8	138807660	rs7825068	T	C	rs7825068	21828061	5.00E-06	Left ventricular hypertrophy (LVH) assessed by electrocardiogram (ECG)	NA	NA	398 Korean cases; 8432 Korean controls	Korean(8830)	ALL(8830)	ASN(8830)	ALL(8830)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	NA	Research Support, Non-U.S. Gov't	C	NA
8	138811480	rs7840530	A	G	rs7840530	21828061	7.30E-06	Left ventricular hypertrophy (LVH) assessed by electrocardiogram (ECG)	NA	NA	398 Korean cases; 8432 Korean controls	Korean(8830)	ALL(8830)	ASN(8830)	ALL(8830)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	NA	Research Support, Non-U.S. Gov't	T	NA
9	20033087	rs4246835	A	G	rs4246835	pha003052	8.32E-05	phs000221	phs000501	0.18	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs4246835-A	NA	G	NA	NA
9	116356516	rs12341266	A	G	rs12341266	23255317	0.000000132	NA	NA	NA	174 European ancestry cases; 823 European ancestry controls	European(997)	ALL(997)	EUR(997)	ALL(997)	Hypertrophic cardiomyopathy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G
10	33549468	rs16934292	G	A	rs16934292	pha003052	1.84E-05	phs000221	phs000501	0.34	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs16934292-A	NA	G	NRP1	intron
10	57416961	rs1916521	C	T	rs1916521	21348951	5.00E-07	recessive	NA	NA	851 Old Order Amish individuals	Amish(851)	ALL(851)	EUR(851)	ALL(851)	Cardiac hypertrophy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	D006332	Cardiomegaly	EFOID:0002503	cardiac hypertrophy	Heart disease	NA	Research Support, N.I.H., Extramural	G	NA
10	67780727	rs10822694	G	A	rs10822694	pha003052	9.91E-05	phs000221	phs000501	0.22	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs10822694-A	NA	G	CTNNA3	intron
10	67837498	rs2394189	G	A	rs2394189	pha003052	8.17E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs2394189-G	NA	A	CTNNA3	intron
10	67849839	rs7916078	G	A	rs7916078	pha003052	3.41E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs7916078-A	NA	A	CTNNA3	intron
10	67930295	rs10996948	A	G	rs10996948	pha003052	8.22E-05	phs000221	phs000501	0.24	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs10996948-G	NA	A	CTNNA3	intron
10	67960463	rs4746554	C	T	rs4746554	pha003052	1.83E-05	phs000221	phs000501	0.21	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs4746554-C	NA	T	CTNNA3	intron
10	67996275	rs10762033	A	G	rs10762033	pha003052	2.62E-05	phs000221	phs000501	0.2	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs10762033-G	NA	A	CTNNA3	intron
10	67996290	rs10762034	T	C	rs10762034	pha003052	2.62E-05	phs000221	phs000501	0.2	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs10762034-C	NA	T	CTNNA3	intron
10	67998370	rs4745895	G	A	rs4745895	pha003052	2.53E-05	phs000221	phs000501	0.21	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs4745895-G	NA	A	CTNNA3	intron
10	68000700	rs10996997	A	G	rs10996997	pha003052	9.54E-05	phs000221	phs000501	0.22	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs10996997-G	NA	A	CTNNA3	intron
10	68028720	rs7912066	C	T	rs7912066	pha003052	5.89E-05	phs000221	phs000501	0.18	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs7912066-T	NA	T	CTNNA3	intron
10	71426938	rs9783205	A	C	rs9783205	pha003052	4.24E-05	phs000221	phs000501	0.23	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs9783205-C	NA	C	NA	NA
10	71427798	rs2616069	G	A	rs2616069	pha003052	4.24E-05	phs000221	phs000501	0.23	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs2616069-G	NA	T	NA	NA
10	71432279	rs10509316	T	C	rs10509316	pha003052	6.77E-05	phs000221	phs000501	0.22	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs10509316-C	NA	G	NA	NA
10	71437979	rs12761954	C	T	rs12761954	pha003052	8.53E-05	phs000221	phs000501	0.22	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs12761954-T	NA	C	NA	NA
10	82699491	rs1484170	T	C	rs1484170	21348951	1.00E-06	additive	NA	NA	851 Old Order Amish individuals	Amish(851)	ALL(851)	EUR(851)	ALL(851)	Cardiac hypertrophy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	D006332	Cardiomegaly	EFOID:0002503	cardiac hypertrophy	Heart disease	NA	Research Support, N.I.H., Extramural	T	NA
10	105846074	rs1320448	A	G	rs1320448	21348951	2.00E-08	additive, recessive	NA	NA	851 Old Order Amish individuals	Amish(851)	ALL(851)	EUR(851)	ALL(851)	Cardiac hypertrophy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	D006332	Cardiomegaly	EFOID:0002503	cardiac hypertrophy	Heart disease	NA	Research Support, N.I.H., Extramural	G	COL17A1
10	113512966	rs4304698	C	T	rs4304698	pha003052	1.03E-05	phs000221	phs000501	0.45	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs4304698-C	NA	T	NA	NA
10	113517330	rs11195714	G	A	rs11195714	pha003052	4.16E-05	phs000221	phs000501	0.4	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs11195714-G	NA	G	NA	NA
10	131928643	rs12414821	G	A	rs12414821	pha003052	2.11E-05	phs000221	phs000501	0.28	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs12414821-A	NA	G	NA	NA
10	131949021	rs12415867	C	T	rs12415867	pha003052	8.60E-05	phs000221	phs000501	0.27	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs12415867-T	NA	T	GLRX3	intron
10	133316452	rs7922424	G	A	rs7922424	pha003052	4.37E-05	phs000221	phs000501	0.35	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs7922424-A	NA	A	NA	NA
11	557342	rs936466	T	C	rs936466	pha003052	2.73E-07	phs000221	phs000501	0.01	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs936466-T	NA	G	C11orf35	intron
11	616865	rs3758650	G	A	rs3758650	pha003052	6.80E-05	phs000221	phs000501	0.41	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs3758650-A	NA	G	CDHR5	UTR-3
11	2271323	rs739545	G	A	rs739545	pha003052	5.32E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs739545-A	NA	C	NA	NA
11	11761070	rs17446021	C	T	rs17446021	21828061	4.90E-06	Left ventricular hypertrophy (LVH) assessed by electrocardiogram (ECG)	NA	NA	398 Korean cases; 8432 Korean controls	Korean(8830)	ALL(8830)	ASN(8830)	ALL(8830)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	NA	Research Support, Non-U.S. Gov't	T	NA
11	21017397	rs2896623	G	A	rs2896623	pha003052	9.40E-05	phs000221	phs000501	0.25	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs2896623-A	NA	A	NELL1	intron
11	21022007	rs12791900	G	A	rs12791900	pha003052	4.91E-05	phs000221	phs000501	0.41	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs12791900-A	NA	G	NELL1	intron
11	36169869	rs10768195	A	G	rs10768195	pha003052	1.05E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs10768195-G	NA	G	LDLRAD3	intron
11	36173252	rs955249	G	A	rs955249	pha003052	2.09E-06	phs000221	phs000501	0.22	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs955249-G	NA	A	LDLRAD3	intron
11	36178902	rs7924470	C	A	rs7924470	pha003052	7.85E-05	phs000221	phs000501	0.17	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs7924470-C	NA	C	LDLRAD3	intron
11	36179252	rs2133522	A	G	rs2133522	pha003052	5.61E-05	phs000221	phs000501	0.27	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs2133522-A	NA	C	LDLRAD3	intron
11	61557803	rs102275	T	C	rs102275	pha003052	8.28E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs102275-C	NA	G	C11orf10	intron
11	61603510	rs174576	C	A	rs174576	pha003052	9.98E-05	phs000221	phs000501	0.04	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs174576-C	NA	A	FADS2	intron
11	95270802	rs4121809	T	C	rs4121809	pha003052	2.27E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs4121809-C	NA	A	NA	NA
11	103345030	rs11225822	A	C	rs11225822	21828061	1.20E-06	Left ventricular hypertrophy (LVH) assessed by electrocardiogram (ECG)	NA	NA	398 Korean cases; 8432 Korean controls	Korean(8830)	ALL(8830)	ASN(8830)	ALL(8830)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	NA	Research Support, Non-U.S. Gov't	A	DYNC2H1
11	130544872	rs2951955	T	G	rs2951955	pha003052	7.03E-05	phs000221	phs000501	0.25	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs2951955-G	NA	T	C11orf44	intron
12	24654276	rs4963768	G	A	rs4963768	pha003052	3.44E-05	phs000221	phs000501	0.23	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs4963768-A	NA	A	SOX5	intron
12	26114019	rs706521	G	A	rs706521	pha003052	9.88E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs706521-G	NA	T	RASSF8	intron
12	26123345	rs706529	A	G	rs706529	pha003052	7.80E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs706529-A	NA	C	RASSF8	intron
12	60797703	rs10506410	A	T	rs10506410	21348951	2.00E-06	dominant	NA	NA	851 Old Order Amish individuals	Amish(851)	ALL(851)	EUR(851)	ALL(851)	Cardiac hypertrophy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	D006332	Cardiomegaly	EFOID:0002503	cardiac hypertrophy	Heart disease	NA	Research Support, N.I.H., Extramural	A	NA
12	81256898	rs1882169	T	C	rs1882169	pha003052	9.85E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1882169-T	NA	C	LIN7A	intron
13	25629820	rs9511601	C	T	rs9511601	pha003052	9.69E-05	phs000221	phs000501	0.18	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs9511601-T	NA	C	NA	NA
13	34731033	rs9528685	T	C	rs9528685	pha003052	3.42E-05	phs000221	phs000501	0.21	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs9528685-C	NA	T	NA	NA
13	48198716	rs1575891	T	C	rs1575891	21348951	6.00E-06	additive	NA	NA	851 Old Order Amish individuals	Amish(851)	ALL(851)	EUR(851)	ALL(851)	Cardiac hypertrophy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	D006332	Cardiomegaly	EFOID:0002503	cardiac hypertrophy	Heart disease	NA	Research Support, N.I.H., Extramural	C	NA
13	50080847	rs2031532	A	G	rs2031532	21348951	5.00E-06	recessive	NA	NA	851 Old Order Amish individuals	Amish(851)	ALL(851)	EUR(851)	ALL(851)	Cardiac hypertrophy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	D006332	Cardiomegaly	EFOID:0002503	cardiac hypertrophy	Heart disease	NA	Research Support, N.I.H., Extramural	G	PHF11
13	51111464	rs3118912	C	T	rs3118912	pha003052	7.39E-05	phs000221	phs000501	0.21	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs3118912-T	NA	C	NA	NA
13	51116901	rs3118914	G	T	rs3118914	pha003052	5.51E-05	phs000221	phs000501	0.22	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs3118914-T	NA	G	NA	NA
13	51117562	rs3116605	T	C	rs3116605	pha003052	7.51E-05	phs000221	phs000501	0.21	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs3116605-C	NA	T	NA	NA
14	22925352	rs1882704	G	A	rs1882704	pha003052	9.09E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1882704-G	NA	A	NA	NA
14	33074970	rs1956217	A	G	rs1956217	21828061	7.90E-06	Left ventricular hypertrophy (LVH) assessed by electrocardiogram (ECG)	NA	NA	398 Korean cases; 8432 Korean controls	Korean(8830)	ALL(8830)	ASN(8830)	ALL(8830)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	NA	Research Support, Non-U.S. Gov't	A	AKAP6
15	25912339	rs17636733	T	C	rs17636733	21348951	2.00E-07	recessive	NA	NA	851 Old Order Amish individuals	Amish(851)	ALL(851)	EUR(851)	ALL(851)	Cardiac hypertrophy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	D006332	Cardiomegaly	EFOID:0002503	cardiac hypertrophy	Heart disease	NA	Research Support, N.I.H., Extramural	T	NA
15	37174748	rs17432433	A	G	rs17432433	pha003052	4.53E-05	phs000221	phs000501	0.18	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs17432433-A	NA	A	LOC145845	intron
15	39315358	rs12907914	G	C	rs12907914	21348951	1.00E-06	recessive	NA	NA	851 Old Order Amish individuals	Amish(851)	ALL(851)	EUR(851)	ALL(851)	Cardiac hypertrophy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	D006332	Cardiomegaly	EFOID:0002503	cardiac hypertrophy	Heart disease	NA	Research Support, N.I.H., Extramural	G	NA
15	94855550	rs13329421	G	T	rs13329421	pha003052	4.33E-05	phs000221	phs000501	0.27	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs13329421-T	NA	T	MCTP2	intron
16	9090615	rs4438302	T	G	rs4438302	pha003052	1.51E-05	phs000221	phs000501	0.22	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs4438302-T	NA	T	NA	NA
16	13253956	rs153091	G	T	rs153091	pha003052	1.05E-05	phs000221	phs000501	0.25	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs153091-G	NA	NA	SHISA9	intron
16	15606987	rs1125972	A	G	rs1125972	pha003052	4.85E-05	phs000221	phs000501	0.34	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1125972-G	NA	T	C16orf45	intron
16	78657827	rs2738571	G	A	rs2738571	pha003052	1.60E-06	phs000221	phs000501	0.25	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs2738571-G	NA	G	WWOX	intron
16	81941319	rs1143689	C	T	rs1143689	pha003052	6.06E-05	phs000221	phs000501	0.21	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1143689-C	NA	C	PLCG2	cds-synon
17	40154777	rs4239268	G	A	rs4239268	21828061	9.90E-06	Left ventricular hypertrophy (LVH) assessed by electrocardiogram (ECG)	NA	NA	398 Korean cases; 8432 Korean controls	Korean(8830)	ALL(8830)	ASN(8830)	ALL(8830)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	NA	Research Support, Non-U.S. Gov't	A	DNAJC7
18	9637626	rs17508949	A	G	rs17508949	pha003052	4.04E-05	phs000221	phs000501	0.3	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs17508949-G	NA	A	NA	NA
18	34261048	rs516514	C	T	rs516514	23255317	0.000000125	NA	NA	NA	174 European ancestry cases; 823 European ancestry controls	European(997)	ALL(997)	EUR(997)	ALL(997)	Hypertrophic cardiomyopathy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	T
18	41440151	rs1460521	C	T	rs1460521	pha003052	5.91E-05	phs000221	phs000501	0.18	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs1460521-T	NA	G	NA	NA
18	45319554	rs2852945	C	T	rs2852945	pha003052	3.14E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs2852945-C	NA	G	NA	NA
19	39015454	rs2071090	T	C	rs2071090	21828061	3.60E-08	Left ventricular hypertrophy (LVH) assessed by electrocardiogram (ECG)	NA	NA	398 Korean cases; 8432 Korean controls	Korean(8830)	ALL(8830)	ASN(8830)	ALL(8830)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	NA	Research Support, Non-U.S. Gov't	C	RYR1
19	39035068	rs10500279	G	C	rs10500279	21828061	1.00E-08	Left ventricular hypertrophy (LVH) assessed by electrocardiogram (ECG)	NA	NA	398 Korean cases; 8432 Korean controls	Korean(8830)	ALL(8830)	ASN(8830)	ALL(8830)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	NA	Research Support, Non-U.S. Gov't	G	RYR1
19	39048163	rs2960321	C	A	rs2960321	21828061	2.50E-08	Left ventricular hypertrophy (LVH) assessed by electrocardiogram (ECG)	NA	NA	398 Korean cases; 8432 Korean controls	Korean(8830)	ALL(8830)	ASN(8830)	ALL(8830)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	NA	Research Support, Non-U.S. Gov't	A	RYR1
19	52058461	rs10412859	C	T	rs10412859	pha003052	2.74E-06	phs000221	phs000501	0.22	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs10412859-T	NA	C	NA	NA
19	52068727	rs7257832	G	T	rs7257832	pha003052	1.23E-05	phs000221	phs000501	0.2	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs7257832-G	NA	G	NA	NA
19	55760460	rs12983684	G	A	rs12983684	pha003052	5.08E-05	phs000221	phs000501	0.25	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs12983684-A	NA	G	PPP6R1	intron
20	11174903	rs2207418	G	A	rs2207418	21348951	9.00E-06	dominant	NA	NA	851 Old Order Amish individuals	Amish(851)	ALL(851)	EUR(851)	ALL(851)	Cardiac hypertrophy	HPOID:0001639	Hypertrophic cardiomyopathy	DOID:11984	hypertrophic cardiomyopathy	D006332	Cardiomegaly	EFOID:0002503	cardiac hypertrophy	Heart disease	NA	Research Support, N.I.H., Extramural	T	NA
20	57087712	rs749210	G	A	rs749210	pha003052	1.59E-05	phs000221	phs000501	0.25	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs749210-A	NA	T	APCDD1L	intron
21	22883278	rs233783	A	C	rs233783	pha003052	1.36E-05	phs000221	phs000501	0.32	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs233783-C	NA	T	NCAM2	intron
21	23035381	rs2223148	G	A	rs2223148	pha003052	4.15E-05	phs000221	phs000501	0.28	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs2223148-G	NA	G	NA	NA
21	23043241	rs2826940	G	A	rs2826940	pha003052	4.06E-05	phs000221	phs000501	0.29	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs2826940-A	NA	G	NA	NA
21	23044990	rs2826942	T	C	rs2826942	pha003052	5.83E-05	phs000221	phs000501	0.28	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs2826942-C	NA	T	NA	NA
22	26641384	rs17302009	C	T	rs17302009	pha003052	6.66E-05	phs000221	phs000501	0.24	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs17302009-T	NA	C	SEZ6L	intron
22	26665807	rs17394336	G	A	rs17394336	pha003052	4.49E-05	phs000221	phs000501	0.29	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs17394336-A	NA	G	SEZ6L	intron
22	27440291	rs9613353	T	C	rs9613353	pha003052	9.45E-05	phs000221	phs000501	0.19	NA	NA	ALL(0)	ALL(0)	Left ventricular hypertrophy	HPOID:0001712	Left ventricular hypertrophy	DOID:11984	hypertrophic cardiomyopathy	NA	NA	NA	NA	Heart disease	rs9613353-C	NA	T	NA	NA

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	410
Disease	hypertrophic cardiomyopathy
Case	(Waiting for update.)