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ONTOLOGY REPORT - ANNOTATIONS


Term:hypertrophic cardiomyopathy
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Accession:DOID:11984 term browser browse the term
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).
Synonyms:exact_synonym: Hypertrophic Cardiomyopathies;   hypertrophic obstructive cardiomyopathies;   hypertrophic obstructive cardiomyopathy
 primary_id: MESH:D002312
 xref: ICD10CM:I42.1;   ICD9CM:425.1;   ICD9CM:425.11;   NCI:C34449;   NCI:C84773;   OMIM:PS192600;   ORDO:217568
For additional species annotation, visit the Alliance of Genome Resources.


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hypertrophic cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC9 ATP binding cassette subfamily C member 9 JBrowse link 5 51,536,531 51,673,583 RGD:9068941
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 JBrowse link 12 15,394,487 15,414,609 RGD:9068941
G ACP2 acid phosphatase 2, lysosomal JBrowse link 2 15,334,015 15,342,531 RGD:9068941
G ACTC1 actin alpha cardiac muscle 1 JBrowse link 1 136,281,119 136,286,551 RGD:9068941
G ACTN2 actinin alpha 2 JBrowse link 14 54,670,727 54,742,717 RGD:9068941
G ADGRL4 adhesion G protein-coupled receptor L4 JBrowse link 6 134,362,714 134,462,697 RGD:9068941
G ADM adrenomedullin JBrowse link 2 49,229,223 49,231,521 RGD:9068941
G AGT angiotensinogen JBrowse link 14 59,643,030 59,656,835 RGD:9068941
G AKAP6 A-kinase anchoring protein 6 JBrowse link 7 66,913,541 67,462,147 RGD:9068941
G AKAP9 A-kinase anchoring protein 9 JBrowse link 9 71,895,615 72,054,898 RGD:9068941
G ALPK3 alpha kinase 3 JBrowse link 7 52,667,342 52,718,775 RGD:9068941
G ANK2 ankyrin 2 JBrowse link 8 109,306,793 109,661,970 RGD:9068941
G ANKRD1 ankyrin repeat domain 1 JBrowse link 14 102,603,777 102,612,857 RGD:9068941
G APH1B aph-1 homolog B, gamma-secretase subunit JBrowse link 1 108,549,297 108,763,279 RGD:9068941
G ARFGAP2 ADP ribosylation factor GTPase activating protein 2 JBrowse link 2 15,390,547 15,401,230 RGD:9068941
G BAG3 BAG cochaperone 3 JBrowse link 14 129,510,240 129,533,998 RGD:9068941
G BCL2 BCL2 apoptosis regulator JBrowse link 1 158,337,403 158,518,214 RGD:9068941
G BECN1 beclin 1 JBrowse link 12 20,041,914 20,054,249 RGD:9068941
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 18 8,957,963 9,132,558 RGD:9068941
G C2H11orf49 chromosome 2 C11orf49 homolog JBrowse link 2 15,401,150 15,606,626 RGD:9068941
G CA12 carbonic anhydrase 12 JBrowse link 1 108,649,277 108,710,658 RGD:9068941
G CACNA1C calcium voltage-gated channel subunit alpha1 C JBrowse link 5 69,016,954 69,448,428 RGD:9068941
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 JBrowse link 10 44,321,954 44,887,410 RGD:9068941
G CALR3 calreticulin 3 JBrowse link 2 61,105,307 61,136,060 RGD:9068941
G CAPN2 calpain 2 JBrowse link 10 19,758,824 19,820,241 RGD:9068941
G CASP3 caspase 3 JBrowse link 15 45,744,320 45,753,252 RGD:9068941
G CAV3 caveolin 3 JBrowse link 13 65,117,868 65,130,886 RGD:9068941
G CD36 CD36 molecule JBrowse link 9 99,685,748 99,782,296 RGD:9068941
G CEP85L centrosomal protein 85 like JBrowse link 1 43,392,630 43,564,835 RGD:9068941
G COX15 cytochrome c oxidase assembly homolog COX15 JBrowse link 14 110,875,614 110,895,044 RGD:9068941
G CRYAB crystallin alpha B JBrowse link 9 39,638,505 39,643,530 RGD:9068941
G CSRP3 cysteine and glycine rich protein 3 JBrowse link 2 40,219,288 40,240,614 RGD:9068941
G CTNNB1 catenin beta 1 JBrowse link 13 25,163,550 25,208,314 RGD:9068941
G CTSL cathepsin L JBrowse link 10 27,668,523 27,674,705 RGD:9068941
G DDB2 damage specific DNA binding protein 2 JBrowse link 2 15,342,614 15,370,623 RGD:9068941
G DES desmin JBrowse link 15 121,428,539 121,435,426 RGD:9068941
G DMD dystrophin JBrowse link X 27,028,223 29,650,728 RGD:9068941
G DSC2 desmocollin 2 JBrowse link 6 114,982,259 115,021,332 RGD:9068941
G DSG2 desmoglein 2 JBrowse link 6 115,400,223 115,453,763 RGD:9068941
G DSP desmoplakin JBrowse link 7 4,862,649 4,915,626 RGD:9068941
G DTNA dystrobrevin alpha JBrowse link 6 118,333,069 118,753,516 RGD:9068941
G EDN1 endothelin 1 JBrowse link 7 8,752,018 8,758,354 RGD:9068941
G EMILIN2 elastin microfibril interfacer 2 JBrowse link 6 103,730,618 103,786,921 RGD:9068941
G EYA4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 1 30,260,784 30,575,593 RGD:9068941
G FASN fatty acid synthase JBrowse link 12 922,405 937,560 RGD:9068941
G FBXL22 F-box and leucine rich repeat protein 22 JBrowse link 1 108,408,227 108,411,937 RGD:9068941
G FHL1 four and a half LIM domains 1 JBrowse link X 111,309,989 111,367,900 RGD:9068941
G FKTN fukutin JBrowse link 1 246,852,387 246,916,650 RGD:9068941
G FLNC filamin C JBrowse link 18 19,759,734 19,787,616 RGD:9068941
G FXN frataxin JBrowse link 1 222,412,485 222,433,224 RGD:9068941
G GAA glucosidase alpha, acid JBrowse link 12 2,315,807 2,339,867 RGD:9068941
G GJA5 gap junction protein alpha 5 JBrowse link 4 99,854,129 99,871,288 RGD:9068941
G GLA galactosidase alpha JBrowse link X 83,024,582 83,032,273 RGD:9068941
G GPD1L glycerol-3-phosphate dehydrogenase 1 like JBrowse link 13 18,126,471 18,176,669 RGD:9068941
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 JBrowse link 7 60,010,396 60,052,258 RGD:9068941
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 1 108,206,172 108,404,149 RGD:9068941
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 JBrowse link 1 37,219,887 37,231,321 RGD:9068941
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 3 10,038,074 10,039,441 RGD:9068941
G HSPD1 heat shock protein family D (Hsp60) member 1 JBrowse link 15 101,360,355 101,373,498 RGD:9068941
G ICAM1 intercellular adhesion molecule 1 JBrowse link 2 69,097,136 69,107,722 RGD:9068941
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 JBrowse link 7 55,654,298 55,675,571 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 5 81,762,027 81,909,253 RGD:9068941
G IGF1R insulin like growth factor 1 receptor JBrowse link 1 137,383,623 137,691,038 RGD:9068941
G INS insulin JBrowse link 2 1,496,842 1,498,052 RGD:9068941
G JPH2 junctophilin 2 JBrowse link 17 46,590,302 46,665,326 RGD:9068941
G JUP junction plakoglobin JBrowse link 12 20,902,395 20,931,208 RGD:9068941
G KAT8 lysine acetyltransferase 8 JBrowse link 3 17,362,326 17,373,110 RGD:9068941
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 JBrowse link 13 198,051,281 198,059,444 RGD:9068941
G KCNH2 potassium voltage-gated channel subfamily H member 2 JBrowse link 18 6,242,826 6,279,154 RGD:9068941
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 JBrowse link 12 10,351,959 10,380,631 RGD:9068941
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 JBrowse link 9 55,836,777 55,861,288 RGD:9068941
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 JBrowse link 5 51,695,927 51,704,402 RGD:9068941
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 2 1,675,323 1,989,110 RGD:9068941
G KLHL41 kelch like family member 41 JBrowse link 15 75,875,694 75,893,789 RGD:9068941
G LACTB lactamase beta JBrowse link 1 108,909,690 108,924,509 RGD:9068941
G LAMA4 laminin subunit alpha 4 JBrowse link 1 78,071,990 78,224,564 RGD:9068941
G LAMP2 lysosomal associated membrane protein 2 JBrowse link X 98,586,718 98,623,939 RGD:9068941
G LDB3 LIM domain binding 3 JBrowse link 14 87,660,961 87,722,249 RGD:9068941
G LMNA lamin A/C JBrowse link 4 93,899,019 93,927,255 RGD:9068941
G LOC100524391 putative methyltransferase NSUN6 JBrowse link 10 44,884,179 44,958,024 RGD:9068941
G LOC100736818 cardiotrophin-1 JBrowse link 3 17,539,927 17,545,250 RGD:9068941
G LPIN2 lipin 2 JBrowse link 6 103,625,725 103,728,151 RGD:9068941
G LRP4 LDL receptor related protein 4 JBrowse link 2 15,616,137 15,672,876 RGD:9068941
G MADD MAP kinase activating death domain JBrowse link 2 15,270,783 15,315,459 RGD:9068941
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha JBrowse link 17 37,957,830 37,959,505 RGD:9068941
G MAP2K2 mitogen-activated protein kinase kinase 2 JBrowse link 2 74,626,739 74,651,352 RGD:9068941
G MIR208B microRNA mir-208b JBrowse link 7 75,667,786 75,667,865 RGD:9068941
G MIR451 microRNA mir-451 JBrowse link 12 45,088,808 45,088,872 RGD:9068941
G MMP1 matrix metallopeptidase 1 JBrowse link 9 33,411,738 33,420,205 RGD:9068941
G MMP2 matrix metallopeptidase 2 JBrowse link 6 30,059,247 30,087,031 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 17 48,179,690 48,186,782 RGD:9068941
G MYBPC3 myosin binding protein C3 JBrowse link 2 15,247,679 15,269,714 RGD:9068941
G MYC MYC proto-oncogene, bHLH transcription factor JBrowse link 4 12,455,141 12,460,360 RGD:9068941
G MYH7 myosin heavy chain 7 JBrowse link 7 75,650,841 75,672,908 RGD:9068941
G MYL2 myosin light chain 2 JBrowse link 14 32,205,953 32,213,848 RGD:9068941
G MYL3 myosin light chain 3 JBrowse link 13 29,730,271 29,735,616 RGD:9068941
G MYL4 myosin light chain 4 JBrowse link 12 16,774,655 16,792,213 RGD:9068941
G MYL7 myosin light chain 7 JBrowse link 18 51,026,436 51,028,917 RGD:9068941
G MYLK2 myosin light chain kinase 2 JBrowse link 17 35,499,828 35,513,096 RGD:9068941
G MYOM1 myomesin 1 JBrowse link 6 103,451,206 103,593,093 RGD:9068941
G MYOZ2 myozenin 2 JBrowse link 8 104,578,942 104,609,367 RGD:9068941
G MYPN myopalladin JBrowse link 14 71,283,271 71,388,591 RGD:9068941
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 15 109,413,726 109,451,813 RGD:9068941
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 4 89,246,958 89,257,090 RGD:9068941
G NEBL nebulette JBrowse link 10 53,602,929 53,957,869 RGD:9068941
G NEXN nexilin F-actin binding protein JBrowse link 6 135,315,000 135,382,911 RGD:9068941
G NKX2-5 NK2 homeobox 5 JBrowse link 16 51,086,014 51,089,165 RGD:9068941
G NME1 NME/NM23 nucleoside diphosphate kinase 1 JBrowse link 12 27,416,308 27,435,044 RGD:9068941
G NMNAT2 nicotinamide nucleotide adenylyltransferase 2 JBrowse link 9 124,495,464 124,697,911 RGD:9068941
G NPM1 nucleophosmin 1 JBrowse link 16 52,767,263 52,781,862 RGD:9068941
G NPPA natriuretic peptide A JBrowse link 6 71,919,557 71,921,345 RGD:9068941
G NR1H3 nuclear receptor subfamily 1 group H member 3 JBrowse link 2 15,315,283 15,336,785 RGD:9068941
G PACSIN3 protein kinase C and casein kinase substrate in neurons 3 JBrowse link 2 15,380,297 15,389,893 RGD:9068941
G PDLIM3 PDZ and LIM domain 3 JBrowse link 15 46,516,178 46,546,658 RGD:9068941
G PKP2 plakophilin 2 JBrowse link 5 41,424,687 41,509,590 RGD:9068941
G PLN phospholamban JBrowse link 1 43,449,354 43,458,925 RGD:9068941
G POMC proopiomelanocortin JBrowse link 3 113,661,712 113,668,558 RGD:9068941
G PPP6R1 protein phosphatase 6 regulatory subunit 1 JBrowse link 6 59,427,901 59,447,692 RGD:9068941
G PRKACA protein kinase cAMP-activated catalytic subunit alpha JBrowse link 2 65,074,876 65,095,564 RGD:9068941
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 18 5,475,077 5,744,761 RGD:9068941
G PSMC3 proteasome 26S subunit, ATPase 3 JBrowse link 2 15,185,482 15,191,189 RGD:9068941
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 14 39,202,165 39,292,041 RGD:9068941
G PTPRH protein tyrosine phosphatase receptor type H JBrowse link 6 59,389,545 59,416,248 RGD:9068941
G RAB8B RAB8B, member RAS oncogene family JBrowse link 1 108,772,851 108,840,222 RGD:9068941
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 13 68,581,128 68,657,911 RGD:9068941
G RAPSN receptor associated protein of the synapse JBrowse link 2 15,166,968 15,181,011 RGD:9068941
G RASSF1 Ras association domain family member 1 JBrowse link 13 32,816,156 32,825,486 RGD:9068941
G RBM20 RNA binding motif protein 20 JBrowse link 14 121,058,896 121,269,824 RGD:9068941
G RETN resistin JBrowse link 2 71,484,164 71,485,577 RGD:9068941
G RPL36A ribosomal protein L36a JBrowse link X 83,018,305 83,022,285 RGD:9068941
G RPS27L ribosomal protein S27 like JBrowse link 1 108,881,330 108,886,334 RGD:9068941
G RYR2 ryanodine receptor 2 JBrowse link 14 53,652,140 54,406,691 RGD:9068941
G SCN5A sodium voltage-gated channel alpha subunit 5 JBrowse link 13 23,336,143 23,424,755 RGD:9068941
G SCO2 SCO cytochrome oxidase deficient homolog 2 (yeast) JBrowse link 5 220,801 222,678 RGD:9068941
G SGCA sarcoglycan alpha JBrowse link 12 26,356,691 26,368,561 RGD:9068941
G SGCB sarcoglycan beta JBrowse link 8 39,130,371 39,148,756 RGD:9068941
G SLC25A4 solute carrier family 25 member 4 JBrowse link 15 46,193,498 46,197,989 RGD:9068941
G SLC39A13 solute carrier family 39 member 13 JBrowse link 2 15,194,028 15,202,936 RGD:9068941
G SLC9A1 solute carrier family 9 member A1 JBrowse link 6 84,373,921 84,426,447 RGD:9068941
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 JBrowse link 6 103,809,732 103,986,057 RGD:9068941
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 3 101,209,568 101,366,057 RGD:9068941
G SPI1 Spi-1 proto-oncogene JBrowse link 2 15,227,850 15,245,679 RGD:9068941
G SSUH2 ssu-2 homolog JBrowse link 13 65,041,193 65,066,367 RGD:9068941
G SYT5 synaptotagmin 5 JBrowse link 6 59,381,649 59,389,014 RGD:9068941
G TBCA tubulin folding cofactor A JBrowse link 2 86,581,603 86,664,994 RGD:9068941
G TCAP titin-cap JBrowse link 12 22,651,666 22,652,904 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 6 49,332,169 49,348,642 RGD:9068941
G TGFB3 transforming growth factor beta 3 JBrowse link 7 99,133,873 99,162,239 RGD:9068941
G TIMP2 TIMP metallopeptidase inhibitor 2 JBrowse link 12 3,254,794 3,300,835 RGD:9068941
G TMEM43 transmembrane protein 43 JBrowse link 13 70,397,069 70,417,213 RGD:9068941
G TMEM86B transmembrane protein 86B JBrowse link 6 59,424,127 59,428,641 RGD:9068941
G TMPO thymopoietin JBrowse link 5 85,317,648 85,346,528 RGD:9068941
G TNNC1 troponin C1, slow skeletal and cardiac type JBrowse link 13 34,591,571 34,594,320 RGD:9068941
G TNNI3 troponin I3, cardiac type JBrowse link 6 59,366,828 59,377,490 RGD:9068941
G TNNT1 troponin T1, slow skeletal type JBrowse link 6 59,351,445 59,365,584 RGD:9068941
G TNNT2 troponin T2, cardiac type JBrowse link 10 23,749,528 23,759,696 RGD:9068941
G TP53 tumor protein p53 JBrowse link 12 52,939,643 52,953,786 RGD:9068941
G TPM1 tropomyosin 1 JBrowse link 1 108,986,981 109,016,090 RGD:9068941
G TRIM63 tripartite motif containing 63 JBrowse link 6 83,493,200 83,507,471 RGD:9068941
G TRPM4 transient receptor potential cation channel subfamily M member 4 JBrowse link 6 54,342,774 54,377,557 RGD:9068941
G TTN titin JBrowse link 15 84,226,953 84,501,320 RGD:9068941
G UCN urocortin JBrowse link 3 111,834,082 111,835,932 RGD:9068941
G USP3 ubiquitin specific peptidase 3 JBrowse link 1 108,414,358 108,515,611 RGD:9068941
G VCL vinculin JBrowse link 14 76,700,143 76,811,875 RGD:9068941
G YY1 YY1 transcription factor JBrowse link 7 121,132,168 121,170,699 RGD:9068941
Apical Hypertrophic Cardiomyopathy and Neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP6 ATP synthase F0 subunit 6 JBrowse link MT 9,120 9,800 RGD:9068941
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 JBrowse link MT 8,959 9,162 RGD:7240710
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO6 myosin VI JBrowse link 1 89,992,860 90,137,767 RGD:7240710
familial hypertrophic cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC9 ATP binding cassette subfamily C member 9 JBrowse link 5 51,536,531 51,673,583 RGD:9068941
G ACADVL acyl-CoA dehydrogenase very long chain JBrowse link 12 52,573,521 52,581,755 RGD:9068941
G ACTC1 actin alpha cardiac muscle 1 JBrowse link 1 136,281,119 136,286,551 RGD:9068941
G ACTN2 actinin alpha 2 JBrowse link 14 54,670,727 54,742,717 RGD:9068941
G ANKRD1 ankyrin repeat domain 1 JBrowse link 14 102,603,777 102,612,857 RGD:9068941
G BAG3 BAG cochaperone 3 JBrowse link 14 129,510,240 129,533,998 RGD:9068941
G CALM3 calmodulin 3 JBrowse link 6 52,506,979 52,516,704 RGD:9068941
G CALR3 calreticulin 3 JBrowse link 2 61,105,307 61,136,060 RGD:9068941
G CAV3 caveolin 3 JBrowse link 13 65,117,868 65,130,886 RGD:9068941
G COMT catechol-O-methyltransferase JBrowse link 14 51,384,729 51,403,997 RGD:9068941
G CRYAB crystallin alpha B JBrowse link 9 39,638,505 39,643,530 RGD:9068941
G CSRP3 cysteine and glycine rich protein 3 JBrowse link 2 40,219,288 40,240,614 RGD:9068941
G CTNNA3 catenin alpha 3 JBrowse link 14 69,195,231 70,974,543 RGD:9068941
G DES desmin JBrowse link 15 121,428,539 121,435,426 RGD:9068941
G DLG4 discs large MAGUK scaffold protein 4 JBrowse link 12 52,550,138 52,574,021 RGD:9068941
G DMD dystrophin JBrowse link X 27,028,223 29,650,728 RGD:9068941
G DSC2 desmocollin 2 JBrowse link 6 114,982,259 115,021,332 RGD:9068941
G DSG2 desmoglein 2 JBrowse link 6 115,400,223 115,453,763 RGD:9068941
G DSP desmoplakin JBrowse link 7 4,862,649 4,915,626 RGD:9068941
G DTNA dystrobrevin alpha JBrowse link 6 118,333,069 118,753,516 RGD:9068941
G EMD emerin JBrowse link X 124,883,047 124,885,429 RGD:9068941
G EYA4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 1 30,260,784 30,575,593 RGD:9068941
G FHL1 four and a half LIM domains 1 JBrowse link X 111,309,989 111,367,900 RGD:9068941
G FHL2 four and a half LIM domains 2 JBrowse link 3 49,389,900 49,448,459 RGD:9068941
G FLNC filamin C JBrowse link 18 19,759,734 19,787,616 RGD:9068941
G GLA galactosidase alpha JBrowse link X 83,024,582 83,032,273 RGD:9068941
G GPD1L glycerol-3-phosphate dehydrogenase 1 like JBrowse link 13 18,126,471 18,176,669 RGD:9068941
G ILK integrin linked kinase JBrowse link 9 3,145,647 3,152,097 RGD:9068941
G JPH2 junctophilin 2 JBrowse link 17 46,590,302 46,665,326 RGD:9068941
G JUP junction plakoglobin JBrowse link 12 20,902,395 20,931,208 RGD:9068941
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 JBrowse link 13 197,979,749 197,980,974 RGD:9068941
G KCNH2 potassium voltage-gated channel subfamily H member 2 JBrowse link 18 6,242,826 6,279,154 RGD:9068941
G LAMA4 laminin subunit alpha 4 JBrowse link 1 78,071,990 78,224,564 RGD:9068941
G LAMP2 lysosomal associated membrane protein 2 JBrowse link X 98,586,718 98,623,939 RGD:9068941
G LDB3 LIM domain binding 3 JBrowse link 14 87,660,961 87,722,249 RGD:9068941
G LMNA lamin A/C JBrowse link 4 93,899,019 93,927,255 RGD:9068941
G LOC100736818 cardiotrophin-1 JBrowse link 3 17,539,927 17,545,250 RGD:9068941
G MIB1 mindbomb E3 ubiquitin protein ligase 1 JBrowse link 6 106,917,995 107,043,144 RGD:9068941
G MYBPC3 myosin binding protein C3 JBrowse link 2 15,247,679 15,269,714 RGD:9068941
G MYH7 myosin heavy chain 7 JBrowse link 7 75,650,841 75,672,908 RGD:9068941
G MYL2 myosin light chain 2 JBrowse link 14 32,205,953 32,213,848 RGD:9068941
G MYL3 myosin light chain 3 JBrowse link 13 29,730,271 29,735,616 RGD:9068941
G MYL9 myosin light chain 9 JBrowse link 17 39,788,165 39,795,240 RGD:9068941
G MYLK2 myosin light chain kinase 2 JBrowse link 17 35,499,828 35,513,096 RGD:9068941
G MYOM1 myomesin 1 JBrowse link 6 103,451,206 103,593,093 RGD:9068941
G MYOZ2 myozenin 2 JBrowse link 8 104,578,942 104,609,367 RGD:9068941
G MYPN myopalladin JBrowse link 14 71,283,271 71,388,591 RGD:9068941
G NEBL nebulette JBrowse link 10 53,602,929 53,957,869 RGD:9068941
G NEXN nexilin F-actin binding protein JBrowse link 6 135,315,000 135,382,911 RGD:9068941
G PDLIM3 PDZ and LIM domain 3 JBrowse link 15 46,516,178 46,546,658 RGD:9068941
G PKP2 plakophilin 2 JBrowse link 5 41,424,687 41,509,590 RGD:9068941
G PRDM16 PR/SET domain 16 JBrowse link 6 64,704,181 65,012,580 RGD:9068941
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 18 5,475,077 5,744,761 RGD:9068941
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 13 68,581,128 68,657,911 RGD:9068941
G RBM20 RNA binding motif protein 20 JBrowse link 14 121,058,896 121,269,824 RGD:9068941
G RPL36A ribosomal protein L36a JBrowse link X 83,018,305 83,022,285 RGD:9068941
G RYR2 ryanodine receptor 2 JBrowse link 14 53,652,140 54,406,691 RGD:9068941
G SCN5A sodium voltage-gated channel alpha subunit 5 JBrowse link 13 23,336,143 23,424,755 RGD:9068941
G SHOC2 SHOC2 leucine rich repeat scaffold protein JBrowse link 14 121,347,938 121,444,144 RGD:9068941
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 3 101,209,568 101,366,057 RGD:9068941
G TAF10 TATA-box binding protein associated factor 10 JBrowse link 9 3,144,262 3,145,702 RGD:9068941
G TAZ tafazzin JBrowse link X 124,940,036 124,946,275 RGD:9068941
G TCAP titin-cap JBrowse link 12 22,651,666 22,652,904 RGD:9068941
G TMEM43 transmembrane protein 43 JBrowse link 13 70,397,069 70,417,213 RGD:9068941
G TMPO thymopoietin JBrowse link 5 85,317,648 85,346,528 RGD:9068941
G TNNI3 troponin I3, cardiac type JBrowse link 6 59,366,828 59,377,490 RGD:9068941
G TNNT1 troponin T1, slow skeletal type JBrowse link 6 59,351,445 59,365,584 RGD:9068941
G TNNT2 troponin T2, cardiac type JBrowse link 10 23,749,528 23,759,696 RGD:9068941
G TPM1 tropomyosin 1 JBrowse link 1 108,986,981 109,016,090 RGD:9068941
G TRIM63 tripartite motif containing 63 JBrowse link 6 83,493,200 83,507,471 RGD:9068941
G TTN titin JBrowse link 15 84,226,953 84,501,320 RGD:9068941
G TTR transthyretin JBrowse link 6 115,496,338 115,503,974 RGD:9068941
G TXNRD2 thioredoxin reductase 2 JBrowse link 14 51,355,731 51,385,096 RGD:9068941
G VCL vinculin JBrowse link 14 76,700,143 76,811,875 RGD:9068941
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CALR3 calreticulin 3 JBrowse link 2 61,105,307 61,136,060 RGD:9068941
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NCAPH2 non-SMC condensin II complex subunit H2 JBrowse link 5 222,784 233,491 RGD:9068941
G SCO2 SCO cytochrome oxidase deficient homolog 2 (yeast) JBrowse link 5 220,801 222,678 RGD:9068941
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COX15 cytochrome c oxidase assembly homolog COX15 JBrowse link 14 110,875,614 110,895,044 RGD:9068941
G LOC100512926 cytochrome c oxidase assembly factor 6 homolog JBrowse link 14 56,751,142 56,758,956 RGD:9068941
G LOC100524554 cytochrome c oxidase assembly factor 5 JBrowse link 3 55,677,042 55,687,828 RGD:9068941
G NCAPH2 non-SMC condensin II complex subunit H2 JBrowse link 5 222,784 233,491 RGD:9068941
G SCO2 SCO cytochrome oxidase deficient homolog 2 (yeast) JBrowse link 5 220,801 222,678 RGD:7240710
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COX15 cytochrome c oxidase assembly homolog COX15 JBrowse link 14 110,875,614 110,895,044 RGD:7240710
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100524554 cytochrome c oxidase assembly factor 5 JBrowse link 3 55,677,042 55,687,828 RGD:7240710
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100512926 cytochrome c oxidase assembly factor 6 homolog JBrowse link 14 56,751,142 56,758,956 RGD:7240710
hypertrophic cardiomyopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTN2 actinin alpha 2 JBrowse link 14 54,670,727 54,742,717 RGD:9068941
G ANKRD1 ankyrin repeat domain 1 JBrowse link 14 102,603,777 102,612,857 RGD:9068941
G CACNA1C calcium voltage-gated channel subunit alpha1 C JBrowse link 5 69,016,954 69,448,428 RGD:9068941
G CAV3 caveolin 3 JBrowse link 13 65,117,868 65,130,886 RGD:7240710
G CRYAB crystallin alpha B JBrowse link 9 39,638,505 39,643,530 RGD:9068941
G CSRP3 cysteine and glycine rich protein 3 JBrowse link 2 40,219,288 40,240,614 RGD:9068941
G DES desmin JBrowse link 15 121,428,539 121,435,426 RGD:9068941
G DSC2 desmocollin 2 JBrowse link 6 114,982,259 115,021,332 RGD:9068941
G DSG2 desmoglein 2 JBrowse link 6 115,400,223 115,453,763 RGD:9068941
G DSP desmoplakin JBrowse link 7 4,862,649 4,915,626 RGD:9068941
G GLA galactosidase alpha JBrowse link X 83,024,582 83,032,273 RGD:9068941
G GPD1L glycerol-3-phosphate dehydrogenase 1 like JBrowse link 13 18,126,471 18,176,669 RGD:9068941
G ILK integrin linked kinase JBrowse link 9 3,145,647 3,152,097 RGD:9068941
G JUP junction plakoglobin JBrowse link 12 20,902,395 20,931,208 RGD:9068941
G LAMA4 laminin subunit alpha 4 JBrowse link 1 78,071,990 78,224,564 RGD:9068941
G LDB3 LIM domain binding 3 JBrowse link 14 87,660,961 87,722,249 RGD:9068941
G LMNA lamin A/C JBrowse link 4 93,899,019 93,927,255 RGD:9068941
G MYBPC3 myosin binding protein C3 JBrowse link 2 15,247,679 15,269,714 RGD:9068941
G MYH7 myosin heavy chain 7 JBrowse link 7 75,650,841 75,672,908 RGD:7240710
G MYH7B myosin heavy chain 7B JBrowse link 17 38,362,158 38,385,680 RGD:9068941
G MYL2 myosin light chain 2 JBrowse link 14 32,205,953 32,213,848 RGD:9068941
G MYL3 myosin light chain 3 JBrowse link 13 29,730,271 29,735,616 RGD:9068941
G MYLK2 myosin light chain kinase 2 JBrowse link 17 35,499,828 35,513,096 RGD:7240710
G MYPN myopalladin JBrowse link 14 71,283,271 71,388,591 RGD:9068941
G NEXN nexilin F-actin binding protein JBrowse link 6 135,315,000 135,382,911 RGD:9068941
G PKP2 plakophilin 2 JBrowse link 5 41,424,687 41,509,590 RGD:9068941
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 18 5,475,077 5,744,761 RGD:9068941
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 13 68,581,128 68,657,911 RGD:9068941
G RBM20 RNA binding motif protein 20 JBrowse link 14 121,058,896 121,269,824 RGD:9068941
G RPL36A ribosomal protein L36a JBrowse link X 83,018,305 83,022,285 RGD:9068941
G SCN5A sodium voltage-gated channel alpha subunit 5 JBrowse link 13 23,336,143 23,424,755 RGD:9068941
G SGCD sarcoglycan delta JBrowse link 16 66,447,982 67,481,709 RGD:9068941
G TAF10 TATA-box binding protein associated factor 10 JBrowse link 9 3,144,262 3,145,702 RGD:9068941
G TCAP titin-cap JBrowse link 12 22,651,666 22,652,904 RGD:9068941
G TNNI3 troponin I3, cardiac type JBrowse link 6 59,366,828 59,377,490 RGD:9068941
G TNNT2 troponin T2, cardiac type JBrowse link 10 23,749,528 23,759,696 RGD:9068941
G TPM1 tropomyosin 1 JBrowse link 1 108,986,981 109,016,090 RGD:9068941
G TTN titin JBrowse link 15 84,226,953 84,501,320 RGD:9068941
G VCL vinculin JBrowse link 14 76,700,143 76,811,875 RGD:9068941
hypertrophic cardiomyopathy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYL2 myosin light chain 2 JBrowse link 14 32,205,953 32,213,848 RGD:7240710
hypertrophic cardiomyopathy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTC1 actin alpha cardiac muscle 1 JBrowse link 1 136,281,119 136,286,551 RGD:7240710
hypertrophic cardiomyopathy 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CSRP3 cysteine and glycine rich protein 3 JBrowse link 2 40,219,288 40,240,614 RGD:7240710
hypertrophic cardiomyopathy 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNNC1 troponin C1, slow skeletal and cardiac type JBrowse link 13 34,591,571 34,594,320 RGD:7240710
hypertrophic cardiomyopathy 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LDB3 LIM domain binding 3 JBrowse link 14 87,660,961 87,722,249 RGD:9068941
G MIR208B microRNA mir-208b JBrowse link 7 75,667,786 75,667,865 RGD:9068941
G MYH7 myosin heavy chain 7 JBrowse link 7 75,650,841 75,672,908 RGD:9068941
hypertrophic cardiomyopathy 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VCL vinculin JBrowse link 14 76,700,143 76,811,875 RGD:7240710
hypertrophic cardiomyopathy 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYOZ2 myozenin 2 JBrowse link 8 104,578,942 104,609,367 RGD:7240710
hypertrophic cardiomyopathy 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JPH2 junctophilin 2 JBrowse link 17 46,590,302 46,665,326 RGD:7240710
hypertrophic cardiomyopathy 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEP85L centrosomal protein 85 like JBrowse link 1 43,392,630 43,564,835 RGD:9068941
G PLN phospholamban JBrowse link 1 43,449,354 43,458,925 RGD:7240710
hypertrophic cardiomyopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNNT2 troponin T2, cardiac type JBrowse link 10 23,749,528 23,759,696 RGD:7240710
hypertrophic cardiomyopathy 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEXN nexilin F-actin binding protein JBrowse link 6 135,315,000 135,382,911 RGD:7240710
hypertrophic cardiomyopathy 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TCAP titin-cap JBrowse link 12 22,651,666 22,652,904 RGD:7240710
G TNNI3 troponin I3, cardiac type JBrowse link 6 59,366,828 59,377,490 RGD:9068941
hypertrophic cardiomyopathy 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNC filamin C JBrowse link 18 19,759,734 19,787,616 RGD:7240710
Hypertrophic Cardiomyopathy 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALPK3 alpha kinase 3 JBrowse link 7 52,667,342 52,718,775 RGD:7240710
hypertrophic cardiomyopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TPM1 tropomyosin 1 JBrowse link 1 108,986,981 109,016,090 RGD:7240710
hypertrophic cardiomyopathy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 18 8,957,963 9,132,558 RGD:9068941
G MYBPC3 myosin binding protein C3 JBrowse link 2 15,247,679 15,269,714 RGD:7240710
G NCF1 neutrophil cytosolic factor 1 JBrowse link 3 11,820,367 11,834,394 RGD:9068941
G RYR2 ryanodine receptor 2 JBrowse link 14 53,652,140 54,406,691 RGD:9068941
G TCAP titin-cap JBrowse link 12 22,651,666 22,652,904 RGD:9068941
hypertrophic cardiomyopathy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 18 5,475,077 5,744,761 RGD:7240710
hypertrophic cardiomyopathy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FHOD3 formin homology 2 domain containing 3 JBrowse link 6 120,036,824 120,585,987 RGD:9068941
G TNNI3 troponin I3, cardiac type JBrowse link 6 59,366,828 59,377,490 RGD:7240710
G TNNT1 troponin T1, slow skeletal type JBrowse link 6 59,351,445 59,365,584 RGD:9068941
hypertrophic cardiomyopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYL3 myosin light chain 3 JBrowse link 13 29,730,271 29,735,616 RGD:7240710
hypertrophic cardiomyopathy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TTN titin JBrowse link 15 84,226,953 84,501,320 RGD:7240710
infantile hypertrophic cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP6 ATP synthase F0 subunit 6 JBrowse link MT 9,120 9,800 RGD:9068941
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 JBrowse link MT 8,959 9,162 RGD:9068941
Mitochondrial Complex I Deficiency, Nuclear Type 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAD9 acyl-CoA dehydrogenase family member 9 JBrowse link 13 71,374,926 71,422,431 RGD:7240710
G CFAP92 cilia and flagella associated protein 92 (putative) JBrowse link 13 71,420,886 71,493,284 RGD:9068941
Sensorineural Deafness with Hypertrophic Cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO6 myosin VI JBrowse link 1 89,992,860 90,137,767 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12552
    disease of anatomical entity 12088
      cardiovascular system disease 3225
        heart disease 2306
          cardiomyopathy 958
            intrinsic cardiomyopathy 652
              hypertrophic cardiomyopathy 194
                Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules 0
                Mitochondrial Complex I Deficiency, Nuclear Type 20 2
                Sensorineural Deafness with Hypertrophic Cardiomyopathy 1
                familial hypertrophic cardiomyopathy + 88
                fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency + 5
                infantile hypertrophic cardiomyopathy 2
Path 2
Term Annotations click to browse term
  disease 12552
    disease of anatomical entity 12088
      cardiovascular system disease 3225
        vascular disease 2337
          artery disease 1535
            aortic disease 545
              aortic valve disease 267
                aortic valve stenosis 248
                  subvalvular aortic stenosis 195
                    hypertrophic cardiomyopathy 194
                      Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules 0
                      Mitochondrial Complex I Deficiency, Nuclear Type 20 2
                      Sensorineural Deafness with Hypertrophic Cardiomyopathy 1
                      familial hypertrophic cardiomyopathy + 88
                      fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency + 5
                      infantile hypertrophic cardiomyopathy 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.