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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hypertrophic cardiomyopathy
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Accession:DOID:11984 term browser browse the term
Definition:An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. (DO)
Synonyms:exact_synonym: hypertrophic cardiomyopathies;   hypertrophic obstructive cardiomyopathies;   hypertrophic obstructive cardiomyopathy
 narrow_synonym: CONCENTRIC HYPERTROPHIC CARDIOMYOPATHY
 primary_id: MESH:D002312
 xref: EFO:0000538;   ICD9CM:425.1;   NCI:C34449;   ORDO:217568
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hypertrophic cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17245405 PMID:25741868 PMID:28492532 NCBI chr27:25,199,580...25,352,637
Ensembl chr27:25,200,418...25,388,477 		JBrowse link
G ACACB acetyl-CoA carboxylase beta ISO RGD PMID:31709908 RGD:329901803 NCBI chr26:17,763,531...17,895,319
Ensembl chr26:17,747,362...17,894,400 		JBrowse link
G ACE angiotensin I converting enzyme no_association ISO DNA:insertion/deletion:intron RGD PMID:9270088 RGD:1566491 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358 		JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:myocardium (human) RGD PMID:32448590 RGD:40818260 NCBI chr  X:11,798,839...11,839,591
Ensembl chr  X:11,798,839...11,900,594 		JBrowse link
G ACP2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr18:42,346,207...42,356,447
Ensembl chr18:42,345,608...42,354,352 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:676951 PMID:2255271 PMID:9536098 PMID:9563954 PMID:10494087 More... NCBI chr30:2,514,825...2,519,398
Ensembl chr30:2,514,824...2,519,382 		JBrowse link
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17097056 PMID:20022194 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chr 4:3,348,529...3,415,275
Ensembl chr 4:3,348,449...3,415,273 		JBrowse link
G ADGRL4 adhesion G protein-coupled receptor L4 ISO protein:decreased expression:heart: RGD PMID:22606234 RGD:13838662 NCBI chr 6:68,078,481...68,189,422
Ensembl chr 6:68,078,246...68,220,743 		JBrowse link
G ADM adrenomedullin ISO associated with Diabetes Mellitus, Experimental;protein:decreased expression:cardiomyocyte RGD PMID:17355819 RGD:1625294 NCBI chr21:33,472,197...33,474,472
Ensembl chr21:33,471,623...33,474,495 		JBrowse link
G AGT angiotensinogen susceptibility
no_association		 ISO DNA:polymorphism:cds:p.M235T(human)
DNA:polymorphisms: :p.T174M, p.M235T (human)		 RGD PMID:9023164 PMID:9270088 RGD:13432163 RGD:1566491 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880 		JBrowse link
G AHR aryl hydrocarbon receptor ISO RGD PMID:19889059 RGD:401794453 NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444 		JBrowse link
G AKAP6 A-kinase anchoring protein 6 ISO RGD PMID:24812305 RGD:11251930 NCBI chr 8:11,403,655...11,882,684
Ensembl chr 8:11,406,280...11,874,406 		JBrowse link
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr14:17,590,256...17,743,646
Ensembl chr14:17,590,772...17,740,294 		JBrowse link
G ALPK3 alpha kinase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:21441111 PMID:24033266 PMID:25741868 PMID:26846950 PMID:27106955 More... NCBI chr 3:54,064,963...54,119,720
Ensembl chr 3:54,084,925...54,114,583 		JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12571597 PMID:15178757 PMID:17242276 PMID:22581653 PMID:23174487 More... NCBI chr32:32,484,196...33,143,295
Ensembl chr32:32,671,281...33,141,036 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... NCBI chr28:5,569,120...5,578,393
Ensembl chr28:5,569,501...5,601,956 		JBrowse link
G APH1B aph-1 homolog B, gamma-secretase subunit ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr30:27,852,784...27,887,618
Ensembl chr30:27,855,249...27,887,601 		JBrowse link
G ARFGAP2 ADP ribosylation factor GTPase activating protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr18:42,399,743...42,410,044
Ensembl chr18:42,399,815...42,409,382 		JBrowse link
G B9D2 B9 domain containing 2 ISO RGD PMID:22134166 RGD:11073617 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr28:29,792,612...29,815,466
Ensembl chr28:29,792,777...29,815,138 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO protein:decreased expression:cardiomyocyte
protein:decreased expression:heart		 RGD PMID:25209900 PMID:25820375 RGD:11558015 RGD:13792650 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658 		JBrowse link
G BECN1 beclin 1 ISO protein:increased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906 		JBrowse link
G CA12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr30:27,903,460...27,957,162
Ensembl chr30:27,905,837...27,957,742 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20817017 PMID:22840528 PMID:23861362 PMID:24439875 PMID:25260352 More... NCBI chr27:44,007,363...44,748,251
Ensembl chr27:44,008,020...44,746,429 		JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 severity ISO DNA:missense mutation:cds:c.1598C>T (p.S533L)(human)
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy		 RGD
ClinVar		 PMID:23861362 PMID:25741868 PMID:28492532 PMID:28614222 RGD:13513985 NCBI chr 2:18,537,100...18,787,728
Ensembl chr 2:18,538,620...18,902,286 		JBrowse link
G CALR3 calreticulin 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17655857 PMID:23861362 PMID:25741868 PMID:28492532 PMID:31513939 NCBI chr20:46,039,115...46,060,834
Ensembl chr20:46,039,115...46,060,814 		JBrowse link
G CAPN2 calpain 2 ISO protein:increased expression, activity:nucleus RGD PMID:25820375 RGD:13792650 NCBI chr 7:40,333,379...40,367,158
Ensembl chr 7:40,334,012...40,377,037 		JBrowse link
G CASP3 caspase 3 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:18192848 RGD:2293330 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505 		JBrowse link
G CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 More... NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559 		JBrowse link
G CAV1 caveolin 1 ISO MouseDO NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935 		JBrowse link
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr20:9,384,901...9,398,055
Ensembl chr20:9,384,901...9,401,196 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO mRNA:increased expression:heart RGD PMID:19189074 RGD:2307222 NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639 		JBrowse link
G CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr20:40,457,430...40,495,128
Ensembl chr20:40,457,657...40,483,881 		JBrowse link
G CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More... NCBI chr 1:58,494,552...58,643,105
Ensembl chr 1:58,494,560...58,691,054 		JBrowse link
G CMA1 chymase 1 susceptibility ISO DNA:snp:5' utr:g.-1903G>A rs1800875 (human) RGD PMID:8759823 RGD:5128572 NCBI chr 8:4,438,244...4,441,189
Ensembl chr 8:4,438,244...4,441,189 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:21667357 PMID:25741868 PMID:27519266 PMID:28492532 PMID:30715774 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927 		JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 ISO RGD PMID:12474143 RGD:1598468 NCBI chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087 		JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More... NCBI chr 5:21,181,836...21,185,164
Ensembl chr 5:21,179,936...21,360,132 		JBrowse link
G CS citrate synthase ISO RGD PMID:10354207 RGD:243048483 NCBI chr10:584,000...611,351
Ensembl chr10:584,904...611,436 		JBrowse link
G CSRP3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:8994428 PMID:9039266 PMID:12507422 PMID:12642359 PMID:14567970 More... NCBI chr21:41,300,277...41,318,788
Ensembl chr21:41,300,425...41,318,738 		JBrowse link
G CSTPP1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr18:42,410,230...42,604,987
Ensembl chr18:42,410,245...42,604,930 		JBrowse link
G CTF1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:17,299,561...17,303,095
Ensembl chr 6:17,299,561...17,303,095 		JBrowse link
G CTNNB1 catenin beta 1 treatment ISO protein:increased phosphorylation:myocyte: RGD PMID:14993121 RGD:1598718 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G CTSL3 cathepsin L family member 3 ISO RGD PMID:19096818 RGD:2315555 NCBI chr 1:72,215,774...72,219,093 JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO mRNA:increased expression:heatt (rat)
mRNA, protein:increased expression:heart (rat)		 RGD PMID:19889059 PMID:24247421 RGD:401793741 RGD:401794453 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO mRNA, protein:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO mRNA, protein:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754 		JBrowse link
G DDB2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr18:42,354,201...42,378,463
Ensembl chr18:42,354,572...42,377,947 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:32528171 NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19937601 PMID:19959795 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576 		JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:102,468,377...102,474,615
Ensembl chr 1:102,468,629...102,475,172 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO protein:increased expression:cardiac muscle tissue of interventricular septum (human) RGD PMID:32051532 RGD:126925233 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029 		JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20031617 PMID:20152563 PMID:20400443 PMID:20716751 PMID:20857253 More... NCBI chr 7:58,369,316...58,402,028
Ensembl chr 7:58,322,959...58,457,978 		JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20400443 PMID:21220045 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chr 7:57,981,918...58,030,197
Ensembl chr 7:57,982,825...58,077,926 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18632414 PMID:19863551 PMID:21062920 PMID:21397041 PMID:21606390 More... NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044 		JBrowse link
G DTNA dystrobrevin alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:30086531 PMID:31568572 NCBI chr 7:55,068,555...55,420,377
Ensembl chr 7:55,069,462...55,420,259 		JBrowse link
G EDN1 endothelin 1 ISO associated with Diabetes Mellitus, Experimental; protein:increased secretion:serum (rat) RGD PMID:19000375 RGD:2302065 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr  X:122,050,309...122,052,629
Ensembl chr  X:122,050,455...122,052,524 		JBrowse link
G EMILIN2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 7:69,521,430...69,580,963 JBrowse link
G EPHX2 epoxide hydrolase 2 ISO mRNA, protein:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chr25:30,045,040...30,107,110
Ensembl chr25:30,045,291...30,107,110 		JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:55,752,170...55,781,118
Ensembl chr15:55,752,200...55,792,105 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201 		JBrowse link
G FASN fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr 9:233,105...249,573
Ensembl chr 9:232,963...249,092 		JBrowse link
G FBXL22 F-box and leucine rich repeat protein 22 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr30:28,187,452...28,191,019
Ensembl chr30:28,187,473...28,191,004 		JBrowse link
G FHL1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr  X:106,542,450...106,604,494
Ensembl chr  X:106,590,988...106,604,029 		JBrowse link
G FHOD3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 7:53,477,273...53,933,532
Ensembl chr 7:53,478,930...53,934,331 		JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:11741828 PMID:16344347 PMID:16368217 PMID:17994539 PMID:18832576 More... NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319 		JBrowse link
G FKTN fukutin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18414213 PMID:22037554 PMID:25741868 PMID:28492532 NCBI chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396 		JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:26555887 PMID:28492532 PMID:31513939 More... NCBI chr14:7,792,708...7,819,723
Ensembl chr14:7,793,449...7,819,940 		JBrowse link
G FXN frataxin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15936968 PMID:25741868 NCBI chr 1:88,288,566...88,311,228
Ensembl chr 1:88,288,566...88,311,228 		JBrowse link
G GAA alpha glucosidase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22644586 PMID:25741868 PMID:28492532 NCBI chr 9:1,601,092...1,615,582
Ensembl chr 9:1,601,121...1,656,597 		JBrowse link
G GJA5 gap junction protein alpha 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr17:58,289,327...58,305,315
Ensembl chr17:58,289,327...58,305,315 		JBrowse link
G GLA galactosidase alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:7504405 PMID:7911050 PMID:8395937 PMID:8411052 PMID:8878432 More... NCBI chr  X:75,311,536...75,320,391
Ensembl chr  X:75,311,536...75,320,249 		JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More... NCBI chr23:12,568,914...12,631,903
Ensembl chr23:12,522,398...12,632,447 		JBrowse link
G GPR149 G protein-coupled receptor 149 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr23:48,470,428...48,535,861
Ensembl chr23:48,471,701...48,535,195 		JBrowse link
G GTPBP3 GTP binding protein 3, mitochondrial ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25434004 PMID:25741868 PMID:30426380 PMID:34276756 PMID:35413567 NCBI chr20:45,422,653...45,427,434
Ensembl chr20:45,423,089...45,426,574 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25145518 PMID:25145519 PMID:25642760 PMID:25741868 More... NCBI chr30:36,637,492...36,656,194
Ensembl chr30:36,639,908...36,656,406 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr30:28,195,296...28,379,343
Ensembl chr30:28,195,673...28,379,444 		JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20001863 NCBI chr 1:64,630,656...64,646,546 JBrowse link
G HMOX1 heme oxygenase 1 ISO protein:increased activity:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr37:7,010,421...7,025,912 JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B ISO MouseDO NCBI chr25:43,042,306...43,056,361
Ensembl chr25:43,042,173...43,056,612 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle (rat) RGD PMID:20601373 RGD:4145536 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496 		JBrowse link
G IGF1 insulin like growth factor 1 severity ISO RGD PMID:12135130 RGD:1598422 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO associated with Diabetes Mellitus;protein:decreased expression:placenta RGD PMID:16750336 RGD:2311505 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387 		JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8660453 NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122 		JBrowse link
G IRF9 interferon regulatory factor 9 ameliorates
exacerbates		 ISO RGD PMID:24144649 RGD:125093743 NCBI chr 8:4,152,146...4,157,201 JBrowse link
G JPH2 junctophilin 2 disease_progression ISO protein:decreased expression:heart
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy		 RGD
ClinVar		 PMID:9536098 PMID:17476457 PMID:17509612 PMID:17576681 PMID:20576937 More... RGD:6480270 NCBI chr24:31,664,106...31,674,487
Ensembl chr24:31,665,771...31,687,228 		JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071 		JBrowse link
G KAT8 lysine acetyltransferase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27768893 NCBI chr 6:17,114,528...17,125,287
Ensembl chr 6:17,114,528...17,125,203 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24217263 PMID:28492532 NCBI chr31:29,858,428...29,868,315 JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:10220144 PMID:15368194 PMID:15840476 PMID:18006462 PMID:20817017 More... NCBI chr31:29,777,154...29,777,839
Ensembl chr31:29,581,658...29,777,525 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19716085 PMID:22581653 PMID:24033266 PMID:25637381 PMID:25741868 More... NCBI chr16:15,009,031...15,041,786
Ensembl chr16:15,009,031...15,041,504 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:16,468,938...16,475,722
Ensembl chr 9:16,468,938...16,475,722 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:5,736,544...5,760,705
Ensembl chr 5:5,740,176...5,760,866 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19120683 PMID:20558321 PMID:22056721 PMID:22365152 PMID:22562657 More... NCBI chr27:25,368,565...25,375,754
Ensembl chr27:25,368,810...25,375,009 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19716085 PMID:22581653 PMID:23396983 PMID:24033266 PMID:24055113 More... NCBI chr18:46,554,390...46,830,533
Ensembl chr18:46,518,908...46,830,043 		JBrowse link
G KLHL24 kelch like family member 24 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr34:16,583,683...16,625,778
Ensembl chr34:16,590,368...16,621,041 		JBrowse link
G KLHL41 kelch like family member 41 ISO RGD PMID:11583900 RGD:1580798 NCBI chr36:14,235,845...14,251,621
Ensembl chr36:14,235,941...14,251,083 		JBrowse link
G LACTB lactamase beta ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr30:27,720,255...27,738,213
Ensembl chr30:27,719,821...27,737,959 		JBrowse link
G LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:67,645,461...68,096,506
Ensembl chr 1:67,611,122...68,095,914 		JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:68,535,614...68,639,115
Ensembl chr12:68,535,860...68,678,762 		JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:15673802 PMID:16199547 PMID:16217705 PMID:17576681 More... NCBI chr  X:92,405,946...92,444,527
Ensembl chr  X:92,407,950...92,444,765 		JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17235623 PMID:17394203 PMID:17438622 PMID:20474083 PMID:23299917 More... NCBI chr 4:34,367,155...34,421,992
Ensembl chr 4:34,364,025...34,421,509 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:2338570 PMID:2753225 PMID:23183350 PMID:23328570 PMID:24033266 More... NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		JBrowse link
G LOC100687687 60S ribosomal protein L36a-like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:7504405 PMID:7911050 PMID:8395937 PMID:8411052 PMID:8878432 More... NCBI chr 4:62,275,030...62,275,422 JBrowse link
G LOC607207 myosin regulatory light polypeptide 9 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 7:69,860,472...69,871,878 JBrowse link
G LPIN2 lipin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 7:69,583,386...69,664,226
Ensembl chr 7:69,580,736...69,673,899 		JBrowse link
G LRP4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr18:42,616,683...42,667,297
Ensembl chr18:42,616,426...42,665,794 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO DNA:missense mutation:c.1394C>T p.A465V, c.1330G>A p.D444N (human) RGD PMID:32004086 RGD:151708727 NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611 		JBrowse link
G MADD MAP kinase activating death domain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr18:42,290,226...42,332,237
Ensembl chr18:42,290,754...42,328,586 		JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO protein:increased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chr24:23,672,343...23,673,937
Ensembl chr24:23,633,579...23,673,921 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:55,465,460...55,487,629
Ensembl chr20:55,465,212...55,487,641 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 treatment ISO protein:increased phosphorylation:heart (human) RGD PMID:27249171 RGD:155646134 NCBI chr12:49,669,849...49,740,039
Ensembl chr12:49,672,389...49,739,850 		JBrowse link
G MASP1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr34:19,689,426...19,750,669
Ensembl chr34:19,691,630...19,750,587 		JBrowse link
G MIR208A microRNA mir-208a ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:3,636,919...3,636,987
Ensembl chr 8:3,636,919...3,636,987 		JBrowse link
G MIR208B microRNA mir-208b ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:3,665,163...3,665,236
Ensembl chr 8:3,665,163...3,665,236 		JBrowse link
G MIR451 microRNA mir-451 ISO RNA:decreased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chr 9:43,030,863...43,030,931
Ensembl chr 9:43,030,863...43,030,931 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:12952838 RGD:1582538 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:plasma RGD PMID:18585501 RGD:5130889 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:plasma RGD PMID:18585501 RGD:5130889 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G MTPN myotrophin ISO MouseDO NCBI chr16:12,316,487...12,369,148
Ensembl chr16:12,316,336...12,369,387 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:208208 More... NCBI chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215 		JBrowse link
G MYBPHL myosin binding protein H like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 6:42,523,529...42,537,012
Ensembl chr 6:42,523,769...42,535,728 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000973 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309 		JBrowse link
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15998695 PMID:20656787 PMID:22011241 PMID:23861362 PMID:24033266 More...
G MYH7 myosin heavy chain 7 severity
treatment		 ISO DNA:missense mutation: :p.R719W (human)
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
protein:increased expression:heart (human)		 RGD
ClinVar		 PMID:1975 PMID:177788 PMID:199274 PMID:204029 PMID:319790 More... RGD:11065270 RGD:155646134 NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725 		JBrowse link
G MYH7B myosin heavy chain 7B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr24:24,000,243...24,041,059
Ensembl chr24:24,019,741...24,041,012 		JBrowse link
G MYL12B myosin light chain 12B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 7:69,877,727...69,895,196 JBrowse link
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:203862 PMID:08673105 PMID:09535554 PMID:9536098 PMID:9724616 More... NCBI chr26:8,624,147...8,632,166
Ensembl chr26:8,464,176...8,632,232 		JBrowse link
G MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:6211078 PMID:08673105 PMID:9536098 PMID:9927691 PMID:10948063 More... NCBI chr20:41,941,617...41,947,085
Ensembl chr20:41,933,105...42,073,779 		JBrowse link
G MYL4 myosin light chain 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr 9:9,251,998...9,265,213
Ensembl chr 9:9,251,998...9,281,025 		JBrowse link
G MYL7 myosin light chain 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842
G MYLK2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31513939 NCBI chr24:21,284,309...21,297,889
Ensembl chr24:21,284,352...21,309,363 		JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21256114 PMID:24033266 More... NCBI chr 7:69,703,057...69,837,987
Ensembl chr 7:69,703,540...69,857,740 		JBrowse link
G MYOZ2 myozenin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:16199547 PMID:17347475 PMID:17434779 PMID:17576681 More... NCBI chr32:38,088,505...38,132,265
Ensembl chr32:38,088,527...38,132,285 		JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18006477 PMID:20801532 PMID:22286171 PMID:23861362 PMID:24033266 More... NCBI chr 4:19,364,146...19,468,827
Ensembl chr 4:19,381,416...19,465,995 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr37:14,680,908...14,713,838
Ensembl chr37:14,683,083...14,713,754 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 susceptibility ISO associated with Mitochondrial Encephalomyopathies;DNA:missense mutations: :p.R228Q, p.P229Q, p.S413P (human) RGD PMID:11220739 RGD:1600573 NCBI chr38:21,271,603...21,281,140
Ensembl chr38:21,271,675...21,285,279 		JBrowse link
G NEBL nebulette ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20951326 PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 More... NCBI chr 2:11,892,132...12,234,421
Ensembl chr 2:11,858,209...12,229,718 		JBrowse link
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19881492 PMID:24033266 PMID:25163546 PMID:25741868 PMID:26659360 More... NCBI chr 6:68,963,953...69,014,874
Ensembl chr 6:68,964,187...69,107,009 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592 		JBrowse link
G NME1 non-metastatic cells 1, protein (NM23A) expressed in ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr 9:26,990,336...26,998,895
Ensembl chr 9:26,990,469...26,998,955 		JBrowse link
G NMNAT2 nicotinamide nucleotide adenylyltransferase 2 ISO protein:decreased expression, decreased activity:heart RGD PMID:22449973 RGD:13782043 NCBI chr 7:16,626,213...16,819,681
Ensembl chr 7:16,631,116...16,805,457 		JBrowse link
G NPM1 nucleophosmin 1 ISO protein:increased expression:cardiomyocyte: RGD PMID:21444791 RGD:11535018 NCBI chr 4:40,756,464...40,770,174
Ensembl chr 4:40,756,465...40,770,175 		JBrowse link
G NPPA natriuretic peptide A treatment ISO protein:decreased expression:cardiomyocyte
mRNA:increased expression:heart (rat)
mRNA:increased expression:heatt (rat)
protein:increased expression:heart (human)		 RGD PMID:19889059 PMID:24247421 PMID:25820375 PMID:27249171 RGD:13792650 RGD:155646134 RGD:401793741 RGD:401794453 NCBI chr 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385 		JBrowse link
G NPPB natriuretic peptide B ISO mRNA:increased expression:heatt (rat)
mRNA:increased expression:heart (rat)		 RGD PMID:19889059 PMID:24247421 RGD:401793741 RGD:401794453 NCBI chr 2:84,395,844...84,397,473 JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr18:42,333,173...42,346,152
Ensembl chr18:42,333,202...42,341,236 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 3:62,164,888...62,228,006
Ensembl chr 3:62,167,939...62,228,035 		JBrowse link
G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr20:9,358,797...9,382,308
Ensembl chr20:9,358,916...9,378,343 		JBrowse link
G PACSIN3 protein kinase C and casein kinase substrate in neurons 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr18:42,378,692...42,399,225
Ensembl chr18:42,389,951...42,398,924 		JBrowse link
G PDLIM3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17254821 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:45,111,358...45,141,444
Ensembl chr16:45,111,372...45,140,895 		JBrowse link
G PEPD peptidase D ISO MouseDO NCBI chr 1:118,662,560...118,773,193
Ensembl chr 1:118,662,626...118,773,153 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO MouseDO NCBI chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:16567567 PMID:17556197 PMID:19863551 PMID:19955750 PMID:20525856 More... NCBI chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603 		JBrowse link
G PLN phospholamban ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More... NCBI chr 1:58,579,095...58,590,541
Ensembl chr 1:58,579,145...58,590,535 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:1539879 PMID:7847370 PMID:11555352 PMID:12210792 PMID:12297582 More... NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2536513 PMID:2831920 PMID:2853496 PMID:8381257 PMID:8928979 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440 		JBrowse link
G PPP6R1 protein phosphatase 6 regulatory subunit 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:102,406,257...102,427,429
Ensembl chr 1:102,406,524...102,426,755 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:762819 PMID:2526523 PMID:9536098 PMID:10355918 PMID:10368461 More... NCBI chr16:15,521,304...15,786,237
Ensembl chr16:15,522,111...15,785,854 		JBrowse link
G PSMC3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr18:42,212,083...42,218,958 JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:11992261 PMID:12058348 PMID:12960218 PMID:14644997 PMID:14961557 More... NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		JBrowse link
G PTPRH protein tyrosine phosphatase receptor type H ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:102,440,961...102,456,368
Ensembl chr 1:102,440,358...102,456,881 		JBrowse link
G RAB8B RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr30:27,784,298...27,845,901
Ensembl chr30:27,784,387...27,842,065 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17603482 PMID:17603483 NCBI chr20:5,892,839...5,972,672
Ensembl chr20:5,892,834...5,972,090 		JBrowse link
G RAPSN receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr18:42,199,160...42,210,668
Ensembl chr18:42,199,412...42,210,673 		JBrowse link
G RASSF1 Ras association domain family member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19652091 NCBI chr20:39,014,639...39,023,393
Ensembl chr20:39,014,666...39,022,585 		JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22004663 PMID:24033266 PMID:24503780 PMID:25637381 PMID:25741868 More... NCBI chr28:21,971,424...22,162,798
Ensembl chr28:21,971,504...22,161,476 		JBrowse link
G RETN resistin ISO DNA, protein:SNP, increased expression:promoter, serum:-420G>C (rs1862513) (human) RGD PMID:20171599 RGD:7207251 NCBI chr20:52,434,148...52,435,627
Ensembl chr20:52,434,271...52,435,624 		JBrowse link
G RNF123 ring finger protein 123 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr20:39,553,016...39,582,127
Ensembl chr20:39,553,059...39,579,844 		JBrowse link
G RPS27L ribosomal protein S27 like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr30:27,749,297...27,753,226 JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12459180 PMID:18752142 PMID:19926015 PMID:22787013 PMID:23022705 More... NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:10807545 PMID:15689442 PMID:15851227 PMID:16155735 PMID:17227473 More... NCBI chr23:8,278,844...8,374,614
Ensembl chr23:8,280,793...8,358,560 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:10749987 PMID:11027508 PMID:14970747 RGD:1580020 NCBI chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247 		JBrowse link
G SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:26,164,784...26,178,249
Ensembl chr 9:26,164,863...26,174,864 		JBrowse link
G SGCB sarcoglycan beta ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:44,969,483...44,987,274
Ensembl chr13:44,972,473...44,987,184 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... NCBI chr16:45,454,660...45,458,606
Ensembl chr16:45,411,810...45,542,162 		JBrowse link
G SLC30A5 solute carrier family 30 member 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:33547425 NCBI chr 2:54,205,510...54,242,451
Ensembl chr 2:54,205,483...54,241,895 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr18:42,221,311...42,229,992
Ensembl chr18:42,222,333...42,227,361 		JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19111554 NCBI chr 2:73,054,742...73,103,364
Ensembl chr 2:73,054,742...73,103,364 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 7:69,359,286...69,505,067
Ensembl chr 7:69,358,447...69,621,067 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 More... NCBI chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063 		JBrowse link
G SPI1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr18:42,253,849...42,269,497
Ensembl chr18:42,253,811...42,269,727 		JBrowse link
G SYT5 synaptotagmin 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:102,456,767...102,463,750
Ensembl chr 1:102,456,782...102,463,749 		JBrowse link
G TBCA tubulin folding cofactor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr 3:28,972,469...29,027,436
Ensembl chr 3:28,910,025...29,025,297 		JBrowse link
G TCAP titin-cap ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:16352453 PMID:17097056 PMID:19035361 PMID:20474083 PMID:22194935 More... NCBI chr 9:22,811,792...22,812,980
Ensembl chr 9:22,794,177...22,813,012 		JBrowse link
G TGFB3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25637381 PMID:25741868 PMID:25835445 PMID:28492532 More... NCBI chr 8:48,920,874...48,946,037
Ensembl chr 8:48,923,423...48,945,816 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 7:70,040,376...70,048,346
Ensembl chr 7:70,040,508...70,047,912 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:15056834 RGD:1580653 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989 		JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18313022 PMID:19467449 PMID:20010364 PMID:21214875 PMID:22458570 More... NCBI chr20:4,281,815...4,298,634
Ensembl chr20:4,281,845...4,297,069 		JBrowse link
G TMEM86B transmembrane protein 86B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:102,427,967...102,430,426
Ensembl chr 1:102,428,665...102,430,141 		JBrowse link
G TMPO thymopoietin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31983221 NCBI chr15:37,923,392...37,959,979
Ensembl chr15:37,932,891...37,959,246 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18572189 PMID:19439414 PMID:20459070 PMID:21056975 PMID:22489623 More... NCBI chr20:37,313,983...37,317,288
Ensembl chr20:37,311,966...37,317,321 		JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:3144325 PMID:3349559 PMID:7592712 PMID:9241277 PMID:9536098 More... NCBI chr 1:102,475,146...102,478,319
Ensembl chr 1:102,475,146...102,478,318 		JBrowse link
G TNNT1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:102,479,617...102,490,776
Ensembl chr 1:102,366,801...102,491,147 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:209262 PMID:541918 PMID:2003160 PMID:2946667 PMID:7898523 More... NCBI chr 7:1,598,306...1,620,531
Ensembl chr 7:1,598,306...1,613,741 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000973 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442 		JBrowse link
G TRAF6 TNF receptor associated factor 6 treatment ISO protein:increased expression:heart (human) RGD PMID:27249171 RGD:155646134 NCBI chr18:31,674,242...31,689,160
Ensembl chr18:31,675,391...31,688,641 		JBrowse link
G TRIM63 tripartite motif containing 63 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22821932 PMID:24436435 PMID:25741868 PMID:25801283 PMID:28492532 More... NCBI chr 2:73,841,868...73,918,371
Ensembl chr 2:73,888,689...73,909,414 		JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23382873 PMID:25741868 PMID:28492532 NCBI chr 1:107,261,760...107,304,157
Ensembl chr 1:107,261,756...107,303,346 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:17344846 PMID:17576681 PMID:18414213 PMID:23396983 More... NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:2349941 PMID:7868124 PMID:14640030 PMID:20840742 PMID:25741868 More... NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058 		JBrowse link
G UCN urocortin ISO RGD PMID:14577573 RGD:1580792 NCBI chr17:21,278,512...21,280,404
Ensembl chr17:21,278,932...21,279,312 		JBrowse link
G UQCRC1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr20:40,507,767...40,515,854
Ensembl chr20:40,506,907...40,520,110 		JBrowse link
G USP3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr30:28,073,484...28,184,121
Ensembl chr30:28,072,655...28,181,749 		JBrowse link
G VCL vinculin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:16712796 PMID:23299917 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 4:24,404,279...24,518,977
Ensembl chr 4:24,404,319...24,518,633 		JBrowse link
G XIRP1 xin actin binding repeat containing 1 ISO MouseDO NCBI chr23:8,849,713...8,859,515
Ensembl chr23:8,851,832...8,855,862 		JBrowse link
G YY1 YY1 transcription factor ISO RGD PMID:12754214 RGD:1580831 NCBI chr 8:68,539,511...68,572,796
Ensembl chr 8:68,539,353...68,568,058 		JBrowse link
Apical Hypertrophic Cardiomyopathy and Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy ClinVar PMID:21686774 NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy ClinVar PMID:21686774 NCBI chr MT:7,803...8,006
Ensembl chr MT:7,803...8,006 		JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22 OMIM
ClinVar		 PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More... NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724 		JBrowse link
COX deficiency, infantile mitochondrial myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 More... NCBI chr10:16,790,137...16,801,851
Ensembl chr10:16,741,761...16,801,824 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:12529715 PMID:14970747 More... NCBI chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247 		JBrowse link
familial hypertrophic cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr27:25,199,580...25,352,637
Ensembl chr27:25,200,418...25,388,477 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 More... NCBI chr30:2,514,825...2,519,398
Ensembl chr30:2,514,824...2,519,382 		JBrowse link
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:14567970 PMID:16199547 PMID:17097056 PMID:17576681 More... NCBI chr 4:3,348,529...3,415,275
Ensembl chr 4:3,348,449...3,415,273 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr28:5,569,120...5,578,393
Ensembl chr28:5,569,501...5,601,956 		JBrowse link
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31395899 PMID:33874732 NCBI chr28:29,792,612...29,815,466
Ensembl chr28:29,792,777...29,815,138 		JBrowse link
G C10H2orf49 chromosome 10 C2orf49 homolog ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr10:38,077,162...38,089,899
Ensembl chr10:38,080,267...38,089,850 		JBrowse link
G CALM3 calmodulin 3 susceptibility ISO DNA:polymorphism:promoter:¿¿¿34T>A(human) RGD PMID:19429631 RGD:13792494 NCBI chr 1:109,284,729...109,294,491
Ensembl chr 1:109,286,155...109,294,391 		JBrowse link
G CALR3 calreticulin 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr20:46,039,115...46,060,834
Ensembl chr20:46,039,115...46,060,814 		JBrowse link
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:14672715 PMID:15580566 NCBI chr20:9,384,901...9,398,055
Ensembl chr20:9,384,901...9,401,196 		JBrowse link
G COMT catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008 		JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More... NCBI chr 5:21,181,836...21,185,164
Ensembl chr 5:21,179,936...21,360,132 		JBrowse link
G CSRP3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:12642359 PMID:14567970 PMID:16199547 PMID:16352453 PMID:20087448 More... NCBI chr21:41,300,277...41,318,788
Ensembl chr21:41,300,425...41,318,738 		JBrowse link
G CTF1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:11058912 PMID:24033266 PMID:26084686 PMID:28492532 NCBI chr 6:17,299,561...17,303,095
Ensembl chr 6:17,299,561...17,303,095 		JBrowse link
G CTNNA3 catenin alpha 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:17,364,121...19,035,836
Ensembl chr 4:17,372,245...19,017,093 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:17221859 PMID:18653338 PMID:19151983 PMID:20171226 PMID:20423733 More... NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985 		JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr 5:32,165,399...32,175,600
Ensembl chr 5:32,163,594...32,188,126 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28569743 PMID:31333075 More... NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576 		JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:102,468,377...102,474,615
Ensembl chr 1:102,468,629...102,475,172 		JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:7971964 PMID:17033975 PMID:20031616 PMID:20031617 PMID:20197793 More... NCBI chr 7:58,369,316...58,402,028
Ensembl chr 7:58,322,959...58,457,978 		JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr 7:57,981,918...58,030,197
Ensembl chr 7:57,982,825...58,077,926 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:18632414 PMID:19924139 PMID:20738328 PMID:23381804 PMID:23861362 More... NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044 		JBrowse link
G DTNA dystrobrevin alpha ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 7:55,068,555...55,420,377
Ensembl chr 7:55,069,462...55,420,259 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr  X:122,050,309...122,052,629
Ensembl chr  X:122,050,455...122,052,524 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy ClinVar NCBI chr 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201 		JBrowse link
G FHL1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25246303 PMID:25965631 PMID:26857240 PMID:28492532 PMID:33673806 More... NCBI chr  X:106,542,450...106,604,494
Ensembl chr  X:106,590,988...106,604,029 		JBrowse link
G FHL2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr10:37,997,912...38,065,633
Ensembl chr10:37,997,942...38,065,330 		JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26555887 PMID:28492532 PMID:31513939 PMID:32112656 NCBI chr14:7,792,708...7,819,723
Ensembl chr14:7,793,449...7,819,940 		JBrowse link
G GLA galactosidase alpha ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:2171331 PMID:8738659 PMID:8878432 PMID:9100224 PMID:9395081 More... NCBI chr  X:75,311,536...75,320,391
Ensembl chr  X:75,311,536...75,320,249 		JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More... NCBI chr23:12,568,914...12,631,903
Ensembl chr23:12,522,398...12,632,447 		JBrowse link
G ILK integrin linked kinase ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:11402068 PMID:11694518 PMID:14745274 PMID:16199547 More... NCBI chr21:29,911,326...29,917,972
Ensembl chr21:29,911,364...29,917,974 		JBrowse link
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25500949 PMID:25741868 PMID:28492532 PMID:30235249 More... NCBI chr24:31,664,106...31,674,487
Ensembl chr24:31,665,771...31,687,228 		JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:21859740 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27662471 More... NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071 		JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy ClinVar PMID:15368194 PMID:16487223 PMID:17310097 PMID:22581653 PMID:24681347 More... NCBI chr31:29,777,154...29,777,839
Ensembl chr31:29,581,658...29,777,525 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:11222472 PMID:11468227 PMID:11668638 PMID:14998624 PMID:20167303 More... NCBI chr16:15,009,031...15,041,786
Ensembl chr16:15,009,031...15,041,504 		JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30086531 More... NCBI chr12:68,535,614...68,639,115
Ensembl chr12:68,535,860...68,678,762 		JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:28492532 NCBI chr  X:92,405,946...92,444,527
Ensembl chr  X:92,407,950...92,444,765 		JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29247119 PMID:30847666 PMID:31333075 More... NCBI chr 4:34,367,155...34,421,992
Ensembl chr 4:34,364,025...34,421,509 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:8621584 PMID:9536098 PMID:12057196 PMID:16407522 PMID:16585054 More... NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		JBrowse link
G LOC100687687 60S ribosomal protein L36a-like ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:2171331 PMID:8738659 PMID:8878432 PMID:9100224 PMID:9395081 More... NCBI chr 4:62,275,030...62,275,422 JBrowse link
G MIB1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr 7:66,173,414...66,289,477
Ensembl chr 7:66,178,594...66,289,491 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy		 ClinVar PMID:203962 PMID:203979 PMID:208206 PMID:208208 PMID:739990 More... NCBI chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215 		JBrowse link
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:15998695 PMID:20215591 PMID:20458009 PMID:20656787 PMID:22011241 More...
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:199274 PMID:546198 PMID:564455 PMID:1423936 PMID:1430197 More... NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725 		JBrowse link
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:08673105 PMID:09535554 PMID:11102452 PMID:11748309 PMID:12404107 More... NCBI chr26:8,624,147...8,632,166
Ensembl chr26:8,464,176...8,632,232 		JBrowse link
G MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:8673105 PMID:11174330 PMID:12021217 PMID:16754800 PMID:18409188 More... NCBI chr20:41,941,617...41,947,085
Ensembl chr20:41,933,105...42,073,779 		JBrowse link
G MYL9 myosin light chain 9 ISO RGD PMID:16076902 RGD:1582589 NCBI chr24:25,322,800...25,329,937
Ensembl chr24:25,322,800...25,329,932 		JBrowse link
G MYLK2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr24:21,284,309...21,297,889
Ensembl chr24:21,284,352...21,309,363 		JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:69,703,057...69,837,987
Ensembl chr 7:69,703,540...69,857,740 		JBrowse link
G MYOZ2 myozenin 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr32:38,088,505...38,132,265
Ensembl chr32:38,088,527...38,132,285 		JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:18006477 PMID:25741868 PMID:26084686 PMID:28492532 PMID:28798025 More... NCBI chr 4:19,364,146...19,468,827
Ensembl chr 4:19,381,416...19,465,995 		JBrowse link
G NEBL nebulette ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More... NCBI chr 2:11,892,132...12,234,421
Ensembl chr 2:11,858,209...12,229,718 		JBrowse link
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:16199547 PMID:20970104 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 6:68,963,953...69,014,874
Ensembl chr 6:68,964,187...69,107,009 		JBrowse link
G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:14672715 PMID:15580566 NCBI chr20:9,358,797...9,382,308
Ensembl chr20:9,358,916...9,378,343 		JBrowse link
G PDLIM3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr16:45,111,358...45,141,444
Ensembl chr16:45,111,372...45,140,895 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:19955750 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20857253 More... NCBI chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603 		JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 5:57,805,951...58,018,817
Ensembl chr 5:57,730,370...58,017,976 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:10355918 PMID:10820940 PMID:11407343 PMID:11407351 PMID:11586962 More... NCBI chr16:15,521,304...15,786,237
Ensembl chr16:15,522,111...15,785,854 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:12077328 PMID:17603482 PMID:17603483 PMID:17603486 PMID:17603487 More... NCBI chr20:5,892,839...5,972,672
Ensembl chr20:5,892,834...5,972,090 		JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25163546 PMID:25351510 PMID:25741868 PMID:28492532 PMID:30847666 More... NCBI chr28:21,971,424...22,162,798
Ensembl chr28:21,971,504...22,161,476 		JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:12459180 PMID:19216760 PMID:19926015 PMID:20132818 PMID:22787013 More... NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:8661019 PMID:10690282 PMID:10727653 PMID:11823453 PMID:12639704 More... NCBI chr23:8,278,844...8,374,614
Ensembl chr23:8,280,793...8,358,560 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr28:22,241,886...22,338,418
Ensembl chr28:22,285,125...22,336,545 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:27763634 PMID:28492532 NCBI chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063 		JBrowse link
G TAF10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:11402068 PMID:11694518 PMID:14745274 PMID:16199547 More... NCBI chr21:29,917,941...29,919,347
Ensembl chr21:29,917,947...29,919,330 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr  X:122,111,608...122,125,714
Ensembl chr  X:122,111,434...122,125,506 		JBrowse link
G TCAP titin-cap ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:10655062 PMID:15582318 PMID:16352453 PMID:16911908 PMID:17097056 More... NCBI chr 9:22,811,792...22,812,980
Ensembl chr 9:22,794,177...22,813,012 		JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy ClinVar PMID:25741868 PMID:26214305 PMID:28492532 PMID:33552729 NCBI chr20:4,281,815...4,298,634
Ensembl chr20:4,281,845...4,297,069 		JBrowse link
G TMPO thymopoietin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr15:37,923,392...37,959,979
Ensembl chr15:37,932,891...37,959,246 		JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy		 ClinVar PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10806205 More... NCBI chr 1:102,475,146...102,478,319
Ensembl chr 1:102,475,146...102,478,318 		JBrowse link
G TNNT1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:102,479,617...102,490,776
Ensembl chr 1:102,366,801...102,491,147 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:209262 PMID:541918 PMID:2946667 PMID:7898523 PMID:8205619 More... NCBI chr 7:1,598,306...1,620,531
Ensembl chr 7:1,598,306...1,613,741 		JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442 		JBrowse link
G TRIM63 tripartite motif containing 63 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:22821932 PMID:24436435 PMID:25741868 PMID:25801283 PMID:28492532 More... NCBI chr 2:73,841,868...73,918,371
Ensembl chr 2:73,888,689...73,909,414 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy		 ClinVar PMID:11846417 PMID:18414213 PMID:18948003 PMID:23396983 PMID:23861362 More... NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26537620 PMID:28492532 PMID:30683924 PMID:31554435 NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058 		JBrowse link
G TXNRD2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr26:29,381,823...29,430,239
Ensembl chr26:29,381,975...29,430,206 		JBrowse link
G VCL vinculin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:20474083 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr 4:24,404,279...24,518,977
Ensembl chr 4:24,404,319...24,518,633 		JBrowse link
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALR3 calreticulin 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 19 ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:29988065 PMID:30847666 NCBI chr20:46,039,115...46,060,834
Ensembl chr20:46,039,115...46,060,814 		JBrowse link
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 30, ATRIAL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CORIN corin, serine peptidase ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 30, atrial OMIM
ClinVar		 PMID:25741868 PMID:37913506 NCBI chr13:43,501,287...43,737,522
Ensembl chr13:43,502,665...43,737,813 		JBrowse link
hypertrophic cardiomyopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 More... NCBI chr30:2,514,825...2,519,398
Ensembl chr30:2,514,824...2,519,382 		JBrowse link
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:9536098 PMID:14567970 PMID:16199547 PMID:17097056 PMID:17576681 More... NCBI chr 4:3,348,529...3,415,275
Ensembl chr 4:3,348,449...3,415,273 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:16199547 PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chr28:5,569,120...5,578,393
Ensembl chr28:5,569,501...5,601,956 		JBrowse link
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:28492532 PMID:31395899 PMID:33874732 NCBI chr28:29,792,612...29,815,466
Ensembl chr28:29,792,777...29,815,138 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 ClinVar PMID:25741868 PMID:26253506 PMID:28492532 PMID:30025578 PMID:30172029 More... NCBI chr27:44,007,363...44,748,251
Ensembl chr27:44,008,020...44,746,429 		JBrowse link
G CALR3 calreticulin 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:17655857 PMID:23861362 More... NCBI chr20:46,039,115...46,060,834
Ensembl chr20:46,039,115...46,060,814 		JBrowse link
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19		 OMIM
ClinVar		 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 PMID:11251997 More... NCBI chr20:9,384,901...9,398,055
Ensembl chr20:9,384,901...9,401,196 		JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More... NCBI chr 5:21,181,836...21,185,164
Ensembl chr 5:21,179,936...21,360,132 		JBrowse link
G CSRP3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:16352453 PMID:17097056 PMID:18505755 PMID:23299917 PMID:23396983 More... NCBI chr21:41,300,277...41,318,788
Ensembl chr21:41,300,425...41,318,738 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:17221859 PMID:18653338 PMID:19151983 PMID:20171226 PMID:20423733 More... NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28569743 PMID:31333075 More... NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576 		JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:7971964 PMID:17033975 PMID:20031616 PMID:20031617 PMID:20197793 More... NCBI chr 7:58,369,316...58,402,028
Ensembl chr 7:58,322,959...58,457,978 		JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr 7:57,981,918...58,030,197
Ensembl chr 7:57,982,825...58,077,926 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:18632414 PMID:19924139 PMID:20738328 PMID:23381804 PMID:23861362 More... NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044 		JBrowse link
G FHL1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25246303 PMID:25965631 PMID:26857240 PMID:28492532 PMID:33673806 More... NCBI chr  X:106,542,450...106,604,494
Ensembl chr  X:106,590,988...106,604,029 		JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:26555887 PMID:28492532 PMID:31513939 PMID:32112656 NCBI chr14:7,792,708...7,819,723
Ensembl chr14:7,793,449...7,819,940 		JBrowse link
G GLA galactosidase alpha ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:2171331 PMID:8738659 PMID:8878432 PMID:9100224 PMID:9395081 More... NCBI chr  X:75,311,536...75,320,391
Ensembl chr  X:75,311,536...75,320,249 		JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 ClinVar PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More... NCBI chr23:12,568,914...12,631,903
Ensembl chr23:12,522,398...12,632,447 		JBrowse link
G ILK integrin linked kinase ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:29915097 PMID:33874732 NCBI chr21:29,911,326...29,917,972
Ensembl chr21:29,911,364...29,917,974 		JBrowse link
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:17509612 PMID:22389502 PMID:24033266 PMID:25500949 PMID:25741868 More... NCBI chr24:31,664,106...31,674,487
Ensembl chr24:31,665,771...31,687,228 		JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:21859740 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27662471 More... NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071 		JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:15368194 PMID:16487223 PMID:17310097 PMID:22581653 PMID:24681347 More... NCBI chr31:29,777,154...29,777,839
Ensembl chr31:29,581,658...29,777,525 		JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 More... NCBI chr12:68,535,614...68,639,115
Ensembl chr12:68,535,860...68,678,762 		JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:28492532 NCBI chr  X:92,405,946...92,444,527
Ensembl chr  X:92,407,950...92,444,765 		JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:28492532 PMID:29247119 PMID:30847666 PMID:32746448 NCBI chr 4:34,367,155...34,421,992
Ensembl chr 4:34,364,025...34,421,509 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:8621584 PMID:9536098 PMID:10580070 PMID:16407522 PMID:16585054 More... NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		JBrowse link
G LOC100687687 60S ribosomal protein L36a-like ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:2171331 PMID:8738659 PMID:8878432 PMID:9100224 PMID:9395081 More... NCBI chr 4:62,275,030...62,275,422 JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:25741868 NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:203962 PMID:203979 PMID:208206 PMID:208208 PMID:739990 More... NCBI chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215 		JBrowse link
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:7731997 PMID:9172070 PMID:9536098 PMID:11815426 PMID:15998695 More...
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 OMIM
ClinVar		 PMID:1975 PMID:199274 PMID:204029 PMID:546198 PMID:564455 More... NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725 		JBrowse link
G MYH7B myosin heavy chain 7B ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 ClinVar NCBI chr24:24,000,243...24,041,059
Ensembl chr24:24,019,741...24,041,012 		JBrowse link
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:08673105 PMID:09535554 PMID:11102452 PMID:11748309 PMID:12404107 More... NCBI chr26:8,624,147...8,632,166
Ensembl chr26:8,464,176...8,632,232 		JBrowse link
G MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:8673105 PMID:11174330 PMID:12021217 PMID:16754800 PMID:18409188 More... NCBI chr20:41,941,617...41,947,085
Ensembl chr20:41,933,105...42,073,779 		JBrowse link
G MYLK2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 OMIM
ClinVar		 PMID:9536098 PMID:11733062 PMID:17576681 PMID:22995991 PMID:23299917 More... NCBI chr24:21,284,309...21,297,889
Ensembl chr24:21,284,352...21,309,363 		JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:69,703,057...69,837,987
Ensembl chr 7:69,703,540...69,857,740 		JBrowse link
G MYOZ2 myozenin 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:28492532 NCBI chr32:38,088,505...38,132,265
Ensembl chr32:38,088,527...38,132,285 		JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:26084686 PMID:28492532 PMID:28798025 PMID:30847666 NCBI chr 4:19,364,146...19,468,827
Ensembl chr 4:19,381,416...19,465,995 		JBrowse link
G NEBL nebulette ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More... NCBI chr 2:11,892,132...12,234,421
Ensembl chr 2:11,858,209...12,229,718 		JBrowse link
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:16199547 PMID:20970104 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 6:68,963,953...69,014,874
Ensembl chr 6:68,964,187...69,107,009 		JBrowse link
G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr20:9,358,797...9,382,308
Ensembl chr20:9,358,916...9,378,343 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:19955750 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20857253 More... NCBI chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:10355918 PMID:10820940 PMID:11407343 PMID:11407351 PMID:11586962 More... NCBI chr16:15,521,304...15,786,237
Ensembl chr16:15,522,111...15,785,854 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:17603482 PMID:17603483 PMID:17603486 PMID:17603487 PMID:17603489 More... NCBI chr20:5,892,839...5,972,672
Ensembl chr20:5,892,834...5,972,090 		JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25163546 PMID:25351510 PMID:25741868 PMID:28492532 PMID:30847666 More... NCBI chr28:21,971,424...22,162,798
Ensembl chr28:21,971,504...22,161,476 		JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:12459180 PMID:19216760 PMID:19926015 PMID:20132818 PMID:22787013 More... NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:8661019 PMID:10690282 PMID:10727653 PMID:11823453 PMID:12639704 More... NCBI chr23:8,278,844...8,374,614
Ensembl chr23:8,280,793...8,358,560 		JBrowse link
G SGCD sarcoglycan delta ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26720722 PMID:28492532 NCBI chr 4:53,259,332...54,178,228
Ensembl chr 4:53,263,866...53,820,231 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:27763634 PMID:28492532 NCBI chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063 		JBrowse link
G SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr20:9,449,393...9,481,959
Ensembl chr20:9,451,541...9,478,986 		JBrowse link
G TAF10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:28492532 PMID:29915097 PMID:33874732 NCBI chr21:29,917,941...29,919,347
Ensembl chr21:29,917,947...29,919,330 		JBrowse link
G TCAP titin-cap ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:10655062 PMID:15582318 PMID:16352453 PMID:16911908 PMID:17097056 More... NCBI chr 9:22,811,792...22,812,980
Ensembl chr 9:22,794,177...22,813,012 		JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:26214305 PMID:28492532 PMID:33552729 NCBI chr20:4,281,815...4,298,634
Ensembl chr20:4,281,845...4,297,069 		JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10806205 More... NCBI chr 1:102,475,146...102,478,319
Ensembl chr 1:102,475,146...102,478,318 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:209262 PMID:541918 PMID:2946667 PMID:7898523 PMID:8205619 More... NCBI chr 7:1,598,306...1,620,531
Ensembl chr 7:1,598,306...1,613,741 		JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:18414213 PMID:18948003 PMID:23396983 PMID:23861362 PMID:23975875 More... NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:1355416 PMID:1850190 PMID:1997217 PMID:2174830 PMID:2590199 More... NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058 		JBrowse link
G TXNRD2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:28492532 NCBI chr26:29,381,823...29,430,239
Ensembl chr26:29,381,975...29,430,206 		JBrowse link
G VCL vinculin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:20474083 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr 4:24,404,279...24,518,977
Ensembl chr 4:24,404,319...24,518,633 		JBrowse link
hypertrophic cardiomyopathy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2 | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 10 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10 OMIM
ClinVar		 PMID:203862 PMID:08673105 PMID:09535554 PMID:9536098 PMID:9673982 More... NCBI chr26:8,624,147...8,632,166
Ensembl chr26:8,464,176...8,632,232 		JBrowse link
hypertrophic cardiomyopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 OMIM
ClinVar		 PMID:676951 PMID:2255271 PMID:9536098 PMID:9563954 PMID:10330430 More... NCBI chr30:2,514,825...2,519,398
Ensembl chr30:2,514,824...2,519,382 		JBrowse link
G GJD2 gap junction protein delta 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 ClinVar PMID:18458017 PMID:27125413 PMID:28492532 NCBI chr30:2,477,341...2,481,058
Ensembl chr30:2,477,335...2,481,306 		JBrowse link
G LPCAT4 lysophosphatidylcholine acyltransferase 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 ClinVar PMID:18458017 PMID:27125413 PMID:28492532 NCBI chr30:746,053...754,691
Ensembl chr30:743,407...754,409 		JBrowse link
G NOP10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 ClinVar PMID:18458017 PMID:27125413 PMID:28492532 NCBI chr30:766,801...767,615
Ensembl chr30:766,853...767,613 		JBrowse link
G NUTM1 NUT midline carcinoma family member 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 ClinVar PMID:18458017 PMID:27125413 PMID:28492532 NCBI chr30:755,267...766,473 JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 ClinVar PMID:18458017 PMID:27125413 PMID:28492532 NCBI chr30:773,021...860,936
Ensembl chr30:773,933...858,487 		JBrowse link
hypertrophic cardiomyopathy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSRP3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 OMIM
ClinVar		 PMID:8994428 PMID:9039266 PMID:9536098 PMID:12507422 PMID:12642359 More... NCBI chr21:41,300,277...41,318,788
Ensembl chr21:41,300,425...41,318,738 		JBrowse link
G IGSF22 immunoglobulin superfamily member 22 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr21:41,075,609...41,094,302
Ensembl chr21:41,076,047...41,094,302 		JBrowse link
G LDHA lactate dehydrogenase A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr21:40,829,844...40,840,947 JBrowse link
G LDHC lactate dehydrogenase C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr21:40,844,644...40,890,407
Ensembl chr21:40,844,662...40,890,398 		JBrowse link
G MRGPRX MAS related GPR family member X ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr21:41,195,255...41,235,734 JBrowse link
G PTPN5 protein tyrosine phosphatase non-receptor type 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr21:41,097,563...41,154,247
Ensembl chr21:41,097,569...41,136,706 		JBrowse link
G SPTY2D1 SPT2 chromatin protein domain containing 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr21:41,021,317...41,042,955
Ensembl chr21:41,023,629...41,042,492 		JBrowse link
G TMEM86A transmembrane protein 86A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr21:41,070,627...41,074,870
Ensembl chr21:41,070,581...41,073,937 		JBrowse link
G TSG101 tumor susceptibility 101 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr21:40,910,870...40,952,922
Ensembl chr21:40,910,874...40,952,808 		JBrowse link
G UEVLD UEV and lactate/malate dehyrogenase domains ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr21:40,956,785...41,006,532
Ensembl chr21:40,959,002...41,006,571 		JBrowse link
G ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr21:41,243,214...41,292,458
Ensembl chr21:41,243,294...41,291,995 		JBrowse link
hypertrophic cardiomyopathy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNNC1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 13 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 13 OMIM
ClinVar		 PMID:9536098 PMID:11385718 PMID:16302972 PMID:17576681 PMID:18042489 More... NCBI chr20:37,313,983...37,317,288
Ensembl chr20:37,311,966...37,317,321 		JBrowse link
hypertrophic cardiomyopathy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 ClinVar PMID:25741868 NCBI chr 4:34,367,155...34,421,992
Ensembl chr 4:34,364,025...34,421,509 		JBrowse link
G MIR208A microRNA mir-208a ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 ClinVar PMID:28492532 NCBI chr 8:3,636,919...3,636,987
Ensembl chr 8:3,636,919...3,636,987 		JBrowse link
G MIR208B microRNA mir-208b ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 ClinVar PMID:28492532 NCBI chr 8:3,665,163...3,665,236
Ensembl chr 8:3,665,163...3,665,236 		JBrowse link
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 OMIM
ClinVar		 PMID:7731997 PMID:9172070 PMID:9536098 PMID:11815426 PMID:15735645 More...
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 ClinVar PMID:28492532 NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725 		JBrowse link
hypertrophic cardiomyopathy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VCL vinculin ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 15 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 15 | ClinVar Annotator: match by term: VCL-related condition OMIM
ClinVar		 PMID:11815424 PMID:16236538 PMID:16712796 PMID:16949038 PMID:17097056 More... NCBI chr 4:24,404,279...24,518,977
Ensembl chr 4:24,404,319...24,518,633 		JBrowse link
hypertrophic cardiomyopathy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYOZ2 myozenin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 16 | ClinVar Annotator: match by term: MYOZ2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17347475 PMID:17434779 PMID:17576681 PMID:19472918 More... NCBI chr32:38,088,505...38,132,265
Ensembl chr32:38,088,527...38,132,285 		JBrowse link
hypertrophic cardiomyopathy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 17 | ClinVar Annotator: match by term: JPH2-related condition OMIM
ClinVar		 PMID:17476457 PMID:17509612 PMID:22389502 PMID:22584458 PMID:23757202 More... NCBI chr24:31,664,106...31,674,487
Ensembl chr24:31,665,771...31,687,228 		JBrowse link
hypertrophic cardiomyopathy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 18 ClinVar PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16829191 More... NCBI chr 1:58,494,552...58,643,105
Ensembl chr 1:58,494,560...58,691,054 		JBrowse link
G PLN phospholamban ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 18 OMIM
ClinVar		 PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16829191 More... NCBI chr 1:58,579,095...58,590,541
Ensembl chr 1:58,579,145...58,590,535 		JBrowse link
hypertrophic cardiomyopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 2 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2 OMIM
ClinVar		 PMID:181617 PMID:209243 PMID:209262 PMID:541918 PMID:936231 More... NCBI chr 7:1,598,306...1,620,531
Ensembl chr 7:1,598,306...1,613,741 		JBrowse link
hypertrophic cardiomyopathy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 20 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 | ClinVar Annotator: match by term: NEXN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19881492 PMID:20970104 More... NCBI chr 6:68,963,953...69,014,874
Ensembl chr 6:68,964,187...69,107,009 		JBrowse link
hypertrophic cardiomyopathy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 21 ClinVar PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532 PMID:33673806 More... NCBI chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442 		JBrowse link
hypertrophic cardiomyopathy 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASC3 CASC3 exon junction complex subunit ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,403,139...22,427,475
Ensembl chr 9:22,405,336...22,427,426 		JBrowse link
G CDC6 cell division cycle 6 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,303,549...22,317,046
Ensembl chr 9:22,226,719...22,316,963 		JBrowse link
G CSF3 colony stimulating factor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294 		JBrowse link
G GRB7 growth factor receptor bound protein 7 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,743,370...22,751,936
Ensembl chr 9:22,743,402...22,750,896 		JBrowse link
G GSDMA gasdermin A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,555,834...22,569,141
Ensembl chr 9:22,556,192...22,566,849 		JBrowse link
G GSDMB gasdermin B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,604,358...22,616,540 JBrowse link
G IKZF3 IKAROS family zinc finger 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,643,482...22,733,988
Ensembl chr 9:22,643,640...22,728,385 		JBrowse link
G LRRC3C leucine rich repeat containing 3C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,581,358...22,596,646
Ensembl chr 9:22,581,615...22,582,436
Ensembl chr 9:22,581,615...22,582,436 		JBrowse link
G MED24 mediator complex subunit 24 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,500,937...22,528,262
Ensembl chr 9:22,501,070...22,527,843 		JBrowse link
G MIEN1 migration and invasion enhancer 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,758,493...22,759,935
Ensembl chr 9:22,758,538...22,759,886 		JBrowse link
G MSL1 MSL complex subunit 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,429,371...22,441,686
Ensembl chr 9:22,429,522...22,441,767 		JBrowse link
G NR1D1 nuclear receptor subfamily 1 group D member 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,461,556...22,469,243
Ensembl chr 9:22,461,705...22,469,053 		JBrowse link
G ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,594,425...22,601,108
Ensembl chr 9:22,594,480...22,599,999 		JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,793,854...22,806,321
Ensembl chr 9:22,793,792...22,806,321 		JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,808,505...22,810,587
Ensembl chr 9:22,808,601...22,810,551 		JBrowse link
G PSMD3 proteasome 26S subunit, non-ATPase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,538,368...22,553,221
Ensembl chr 9:22,538,627...22,552,945 		JBrowse link
G RAPGEFL1 Rap guanine nucleotide exchange factor like 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,385,970...22,399,584
Ensembl chr 9:22,387,786...22,394,887 		JBrowse link
G TCAP titin-cap ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1N | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25
ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25		 OMIM
ClinVar		 PMID:9536098 PMID:10655062 PMID:12507422 PMID:15582318 PMID:16352453 More... NCBI chr 9:22,811,792...22,812,980
Ensembl chr 9:22,794,177...22,813,012 		JBrowse link
G THRA thyroid hormone receptor alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,469,466...22,493,445
Ensembl chr 9:22,468,594...22,493,445 		JBrowse link
G TMPO thymopoietin ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 ClinVar PMID:16247757 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:37,923,392...37,959,979
Ensembl chr15:37,932,891...37,959,246 		JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1N | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:3144325 PMID:3349559 PMID:9241277 PMID:10806205 PMID:11735257 More... NCBI chr 1:102,475,146...102,478,319
Ensembl chr 1:102,475,146...102,478,318 		JBrowse link
G WIPF2 WAS/WASL interacting protein family member 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,320,321...22,372,907
Ensembl chr 9:22,325,183...22,364,545 		JBrowse link
G ZPBP2 zona pellucida binding protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr 9:22,632,114...22,639,507
Ensembl chr 9:22,632,444...22,639,338 		JBrowse link
hypertrophic cardiomyopathy 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNC filamin C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 15 | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 26 | ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 5 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 OMIM
ClinVar		 PMID:9536098 PMID:15929027 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr14:7,792,708...7,819,723
Ensembl chr14:7,793,449...7,819,940 		JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 ClinVar PMID:10722117 PMID:11939509 PMID:24115288 PMID:25741868 NCBI chr21:28,187,535...28,188,991 JBrowse link
Hypertrophic Cardiomyopathy 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPK3 alpha kinase 3 ISO ClinVar Annotator: match by term: ALPK3-related condition | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic 27 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21441111 PMID:24033266 PMID:25741868 More... NCBI chr 3:54,064,963...54,119,720
Ensembl chr 3:54,084,925...54,114,583 		JBrowse link
Hypertrophic Cardiomyopathy 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FHOD3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 28 | ClinVar Annotator: match by term: FHOD3-related condition OMIM
ClinVar		 PMID:24088304 PMID:25741868 PMID:28492532 PMID:30442288 PMID:30898215 More... NCBI chr 7:53,477,273...53,933,532
Ensembl chr 7:53,478,930...53,934,331 		JBrowse link
Hypertrophic Cardiomyopathy 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLHL24 kelch like family member 24 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies OMIM
ClinVar		 PMID:30715372 NCBI chr34:16,583,683...16,625,778
Ensembl chr34:16,590,368...16,621,041 		JBrowse link
hypertrophic cardiomyopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 3 OMIM
ClinVar		 PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442 		JBrowse link
hypertrophic cardiomyopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar PMID:25741868 NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906 		JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chr 1:102,468,377...102,474,615
Ensembl chr 1:102,468,629...102,475,172 		JBrowse link
G MADD MAP kinase activating death domain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chr18:42,290,226...42,332,237
Ensembl chr18:42,290,754...42,328,586 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 4, susceptibility to | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: MYBPC3-related condition OMIM
ClinVar		 PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:747929 More... NCBI chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar PMID:23233322 PMID:24111713 PMID:25741868 PMID:28492532 PMID:34460321 NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chr 6:5,702,222...5,719,515
Ensembl chr 6:5,605,694...5,719,458 		JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875 		JBrowse link
G TCAP titin-cap ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar PMID:12507422 PMID:15582318 PMID:28492532 NCBI chr 9:22,811,792...22,812,980
Ensembl chr 9:22,794,177...22,813,012 		JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chr 1:102,475,146...102,478,319
Ensembl chr 1:102,475,146...102,478,318 		JBrowse link
hypertrophic cardiomyopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 6 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 6 OMIM
ClinVar		 PMID:7657794 PMID:10355918 PMID:10820940 PMID:11371514 PMID:11407343 More... NCBI chr16:15,521,304...15,786,237
Ensembl chr16:15,522,111...15,785,854 		JBrowse link
hypertrophic cardiomyopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAAF3 dynein axonemal assembly factor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:102,468,377...102,474,615
Ensembl chr 1:102,468,629...102,475,172 		JBrowse link
G FHOD3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 ClinVar PMID:30442288 NCBI chr 7:53,477,273...53,933,532
Ensembl chr 7:53,478,930...53,934,331 		JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 7 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 OMIM
ClinVar		 PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10731705 More... NCBI chr 1:102,475,146...102,478,319
Ensembl chr 1:102,475,146...102,478,318 		JBrowse link
G TNNT1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:102,479,617...102,490,776
Ensembl chr 1:102,366,801...102,491,147 		JBrowse link
hypertrophic cardiomyopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 8 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 8 OMIM
ClinVar		 PMID:6211078 PMID:08673105 PMID:9536098 PMID:9927691 PMID:10948063 More... NCBI chr20:41,941,617...41,947,085
Ensembl chr20:41,933,105...42,073,779 		JBrowse link
hypertrophic cardiomyopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9 ClinVar PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr12:12,706,043...12,718,821
Ensembl chr12:12,704,983...12,718,821 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9 OMIM
ClinVar		 PMID:9536098 PMID:10462489 PMID:11310621 PMID:16084088 PMID:17344846 More... NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
Immunodeficiency 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FNIP1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 93 and hypertrophic cardiomyopathy OMIM
ClinVar		 PMID:25741868 PMID:32181500 PMID:32905580 NCBI chr11:19,979,294...20,134,341
Ensembl chr11:19,979,163...20,134,229 		JBrowse link
G RAPGEF6 Rap guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Immunodeficiency 93 and hypertrophic cardiomyopathy ClinVar PMID:32905580 NCBI chr11:19,775,874...19,973,784 JBrowse link
infantile hypertrophic cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:7,803...8,006
Ensembl chr MT:7,803...8,006 		JBrowse link
mitochondrial complex IV deficiency nuclear type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COA6 cytochrome c oxidase assembly factor 6 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 OMIM
ClinVar		 PMID:22277967 PMID:24549041 PMID:25339201 PMID:25741868 PMID:25959673 More... NCBI chr 4:5,447,252...5,454,500
Ensembl chr 4:5,447,249...5,454,456 		JBrowse link
mitochondrial complex IV deficiency nuclear type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COA5 cytochrome c oxidase assembly factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:44,073,218...44,080,346
Ensembl chr10:43,931,673...44,080,347 		JBrowse link
G COA6 cytochrome c oxidase assembly factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:5,447,252...5,454,500
Ensembl chr 4:5,447,249...5,454,456 		JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087 		JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 ClinVar PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 More... NCBI chr10:16,790,137...16,801,851
Ensembl chr10:16,741,761...16,801,824 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 OMIM
ClinVar		 PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:12529715 More... NCBI chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247 		JBrowse link
mitochondrial complex IV deficiency nuclear type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 OMIM
ClinVar		 PMID:2175025 PMID:9536098 PMID:12474143 PMID:15235026 PMID:15863660 More... NCBI chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087 		JBrowse link
mitochondrial complex IV deficiency nuclear type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COA5 cytochrome c oxidase assembly factor 5 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 OMIM
ClinVar		 PMID:21457908 NCBI chr10:44,073,218...44,080,346
Ensembl chr10:43,931,673...44,080,347 		JBrowse link
nuclear type mitochondrial complex I deficiency 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAD9 acyl-CoA dehydrogenase family member 9 ISO ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency OMIM
ClinVar		 PMID:7599230 PMID:9536098 PMID:16199547 PMID:17564966 PMID:17576681 More... NCBI chr20:3,155,754...3,205,307
Ensembl chr20:3,021,167...3,205,279 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:19777577 PMID:22241855 PMID:22425360 PMID:23012439 PMID:25741868 More... NCBI chr 3:64,731,165...64,867,743
Ensembl chr 3:64,731,171...64,867,547 		JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:16909394 PMID:17345604 PMID:20690115 PMID:21866095 PMID:25741868 More... NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429 		JBrowse link
G CFAP92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20929961 PMID:21057504 More... NCBI chr20:3,096,859...3,157,896
Ensembl chr20:3,097,395...3,157,888 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20		 ClinVar PMID:20301500 PMID:22425360 PMID:22693042 PMID:24178751 PMID:25407461 More... NCBI chr 4:71,435,994...71,567,567
Ensembl chr 4:71,430,575...71,567,267 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:25741868 PMID:26072516 NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:8655135 PMID:9562578 PMID:11499718 PMID:12881443 PMID:12951062 More... NCBI chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215 		JBrowse link
G NBN nibrin ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:23555315 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26467025 More... NCBI chr29:35,416,093...35,477,569
Ensembl chr29:35,416,093...35,477,563 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:15542397 PMID:19105186 PMID:19877282 PMID:24016303 PMID:25741868 More... NCBI chr12:11,503,184...11,514,977
Ensembl chr12:11,503,240...11,514,929 		JBrowse link
Sensorineural Deafness with Hypertrophic Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Sensorineural deafness with hypertrophic cardiomyopathy ClinVar PMID:15060111 PMID:18212818 PMID:18348273 PMID:24033266 PMID:28492532 NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 15182
      cardiovascular system disease 4416
        heart disease 3122
          cardiomyopathy 1273
            intrinsic cardiomyopathy 898
              hypertrophic cardiomyopathy 285
                COX deficiency, infantile mitochondrial myopathy + 5
                Immunodeficiency 93 2
                Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules 0
                Sensorineural Deafness with Hypertrophic Cardiomyopathy 1
                familial hypertrophic cardiomyopathy + 136
                infantile hypertrophic cardiomyopathy 2
                nuclear type mitochondrial complex I deficiency 20 9
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 15182
      cardiovascular system disease 4416
        vascular disease 3110
          artery disease 2048
            aortic disease 773
              aortic valve disease 371
                aortic valve stenosis 349
                  subvalvular aortic stenosis 287
                    hypertrophic cardiomyopathy 285
                      COX deficiency, infantile mitochondrial myopathy + 5
                      Immunodeficiency 93 2
                      Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules 0
                      Sensorineural Deafness with Hypertrophic Cardiomyopathy 1
                      familial hypertrophic cardiomyopathy + 136
                      infantile hypertrophic cardiomyopathy 2
                      nuclear type mitochondrial complex I deficiency 20 9
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