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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:Ventricular Outflow Obstruction
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Accession:DOID:9004319 term browser browse the term
Definition:Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS.
Synonyms:exact_synonym: Ventricular Outflow Obstructions
 primary_id: MESH:D014694
 xref: EFO:1001448

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Ventricular Outflow Obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bambi BMP and activin membrane bound inhibitor ISO protein:increased expression:myocardium: RGD PMID:23168040 RGD:14390160 NCBI chrNW_004936613:3,098,549...3,103,868
Ensembl chrNW_004936613:3,098,159...3,103,868 		JBrowse link
G Hoxb1 homeobox B1 ISO RGD PMID:26284287 RGD:11052805 NCBI chrNW_004936490:12,853,983...12,855,428
Ensembl chrNW_004936490:12,853,983...12,855,428 		JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8660453 NCBI chrNW_004936816:1,002,137...1,003,357
Ensembl chrNW_004936816:1,002,137...1,003,357 		JBrowse link
aortic valve disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434 NCBI chrNW_004936669:2,474,381...2,613,541
Ensembl chrNW_004936669:2,476,818...2,580,891 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chrNW_004937067:194,375...246,607 JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28387797 PMID:28492532 PMID:30675029 NCBI chrNW_004936514:10,061,675...10,070,541
Ensembl chrNW_004936514:10,061,675...10,070,541 		JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:23969418 RGD:12792206 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition OMIM
ClinVar		 PMID:9536098 PMID:15472075 PMID:16025100 PMID:16614245 PMID:16729972 More... NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28492532 PMID:30796334 NCBI chrNW_004936471:26,781,420...26,856,556
Ensembl chrNW_004936471:26,781,549...26,856,571 		JBrowse link
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28553164 More... NCBI chrNW_004936478:10,887,900...10,939,510
Ensembl chrNW_004936478:10,888,045...10,939,564 		JBrowse link
aortic valve stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb1 adrenoceptor beta 1 ISO RGD PMID:1648674 RGD:7241565 NCBI chrNW_004936486:4,400,467...4,401,588
Ensembl chrNW_004936486:4,399,915...4,403,149 		JBrowse link
G Apob apolipoprotein B ISO RGD PMID:11903341 RGD:1578425 NCBI chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144 		JBrowse link
G Bambi BMP and activin membrane bound inhibitor ISO protein:increased expression:myocardium: RGD PMID:23168040 RGD:14390160 NCBI chrNW_004936613:3,098,549...3,103,868
Ensembl chrNW_004936613:3,098,159...3,103,868 		JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:10700187 RGD:734918 NCBI chrNW_004936678:365,005...560,546
Ensembl chrNW_004936678:365,834...436,528 		JBrowse link
G Egr1 early growth response 1 ISO protein:increased expression:aortic valve cusp RGD PMID:15597579 RGD:1626496 NCBI chrNW_004936531:7,625,956...7,629,041
Ensembl chrNW_004936531:7,625,892...7,629,749 		JBrowse link
G Eln elastin ISO RGD PMID:11175284 RGD:1580327 NCBI chrNW_004936543:3,135,169...3,165,023 JBrowse link
G Eno3 enolase 3 ISO mRNA:decreased expression:cardiac muscle cell RGD PMID:8594891 RGD:2301765 NCBI chrNW_004936677:2,754,117...2,760,992
Ensembl chrNW_004936677:2,754,067...2,760,644 		JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:15533858 RGD:1580704 NCBI chrNW_004936495:7,956,168...8,018,356
Ensembl chrNW_004936495:7,956,766...8,004,357 		JBrowse link
G Jarid2 jumonji and AT-rich interaction domain containing 2 ISO mRNA, protein:decreased expression:ventricle endocardium (human) RGD PMID:18805276 RGD:9586018 NCBI chrNW_004936552:1,566,382...1,786,837
Ensembl chrNW_004936552:1,566,788...1,785,490 		JBrowse link
G Lgals3 galectin 3 ISO RGD PMID:15520318 RGD:9685214 NCBI chrNW_004936697:20,861...38,568
Ensembl chrNW_004936697:27,145...38,586 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:15780799 RGD:1582522 NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857 		JBrowse link
G Nfatc1 nuclear factor of activated T cells 1 severity ISO RGD PMID:23578508 RGD:267010069 NCBI chrNW_004936616:484,062...584,950
Ensembl chrNW_004936616:484,045...587,891 		JBrowse link
G Nppc natriuretic peptide C ISO mRNA:decreased expression:aortic valve RGD PMID:17709640 RGD:1642267 NCBI chrNW_004936525:5,092,675...5,099,344
Ensembl chrNW_004936525:5,092,635...5,099,331 		JBrowse link
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase ISO mRNA:increased expression:heart left ventricle (human) RGD PMID:22128088 RGD:9590202 NCBI chrNW_004936762:99,335...137,833
Ensembl chrNW_004936762:99,293...137,874 		JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO RGD PMID:15533858 RGD:1580704 NCBI chrNW_004936521:5,576,705...5,614,738
Ensembl chrNW_004936521:5,575,996...5,615,370 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO with Egfr mutation RGD PMID:10700187 RGD:734918 NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448 		JBrowse link
G Sp7 Sp7 transcription factor severity ISO RGD PMID:23578508 RGD:267010069 NCBI chrNW_004936512:10,610,542...10,613,335
Ensembl chrNW_004936512:10,612,060...10,619,628 		JBrowse link
G Tnf tumor necrosis factor ISO OMIM:109730 | OMIM:614823 MouseDO NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO protein:increased expression:serum RGD PMID:20211333 RGD:7205491 NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089 		JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:11359741 RGD:1580365 NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109 		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 chrNW_004936788:1,125,332...1,264,372
Ensembl chrNW_004936788:1,174,544...1,262,746 		JBrowse link
Calcification of Aortic Valve term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chrNW_004936621:620,163...639,115
Ensembl chrNW_004936621:620,074...639,093 		JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:24374105 RGD:11352276 NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ameliorates ISO RGD PMID:22699504 RGD:155641244 NCBI chrNW_004936471:4,320,235...4,330,251
Ensembl chrNW_004936471:4,320,933...4,330,253 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 severity ISO RGD PMID:15120829 RGD:12910476 NCBI chrNW_004936506:1,678,069...1,687,632 JBrowse link
G Meis2 Meis homeobox 2 ISO mRNA,protein:decreased expression:aortic valve: RGD PMID:30594396 RGD:155598679 NCBI chrNW_004936471:800,510...1,006,054
Ensembl chrNW_004936471:798,739...1,006,047 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16025100 NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells RGD PMID:25722432 RGD:13207434 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Pth parathyroid hormone disease_progression ISO protein:increased expression:serum (rat) RGD PMID:22634235 RGD:7242900 NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030 		JBrowse link
G Ptpn1 protein tyrosine phosphatase non-receptor type 1 ISO protein:increased expression:aortic valve (human) RGD PMID:35958694 RGD:401976381 NCBI chrNW_004936514:4,065,455...4,083,847
Ensembl chrNW_004936514:4,068,238...4,084,009 		JBrowse link
G Slc20a1 solute carrier family 20 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chrNW_004936783:1,117,835...1,130,739
Ensembl chrNW_004936783:1,117,829...1,131,213 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425 		JBrowse link
Congenital Heart Defects, Multiple Types, 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flt4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 OMIM
ClinVar		 PMID:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 More... NCBI chrNW_004936739:240,572...281,925
Ensembl chrNW_004936739:236,510...281,729 		JBrowse link
COX deficiency, infantile mitochondrial myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101962609 protein SCO2 homolog, mitochondrial 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 chrNW_004936629:318,581...320,804
Ensembl chrNW_004936629:318,581...320,795 		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 ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 More... NCBI chrNW_004936629:320,885...327,290
Ensembl chrNW_004936629:321,011...327,607 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936629:315,609...320,356
Ensembl chrNW_004936629:315,610...319,076 		JBrowse link
discrete subaortic stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fads2 fatty acid desaturase 2 treatment ISO associated with Left Ventricular Hypertrophy, Cardiac Fibrosis RGD PMID:24284026 RGD:401901245 NCBI chrNW_004936581:1,203,410...1,233,330
Ensembl chrNW_004936581:1,203,366...1,233,469 		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 chrNW_004936548:4,983,461...5,110,693
Ensembl chrNW_004936548:4,987,847...5,108,104 		JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004936595:514,883...520,223
Ensembl chrNW_004936595:514,534...520,223 		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 chrNW_004936673:1,092,700...1,098,256
Ensembl chrNW_004936673:1,092,717...1,100,331 		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 chrNW_004936484:16,186,844...16,248,394
Ensembl chrNW_004936484:16,186,642...16,248,400 		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 chrNW_004936601:3,502,844...3,510,919
Ensembl chrNW_004936601:3,502,844...3,511,003 		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 chrNW_004936486:8,985,871...9,007,461
Ensembl chrNW_004936486:8,985,761...9,007,502 		JBrowse link
G Calm3 calmodulin 3 susceptibility ISO DNA:polymorphism:promoter:¿¿¿34T>A(human) RGD PMID:19429631 RGD:13792494 NCBI chrNW_004936664:471,446...480,858
Ensembl chrNW_004936664:471,440...480,441 		JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004936596:4,120,292...4,140,432
Ensembl chrNW_004936596:4,120,295...4,140,432 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:14672715 PMID:15580566 NCBI chrNW_004936602:4,264,896...4,278,160
Ensembl chrNW_004936602:4,264,889...4,278,161 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936619:3,847,059...3,883,866
Ensembl chrNW_004936619:3,876,299...3,882,747 		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 chrNW_004936612:2,532,851...2,536,473
Ensembl chrNW_004936612:2,532,812...2,537,495 		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 chrNW_004936654:271,067...313,251
Ensembl chrNW_004936654:271,067...289,823 		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 chrNW_004936501:13,286,821...13,291,280 JBrowse link
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936521:10,482,434...10,936,554 JBrowse link
G CUNH2orf49 chromosome unknown C2orf49 homolog ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004936764:656,431...675,591
Ensembl chrNW_004936764:665,524...675,556 		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 chrNW_004936569:1,807,902...1,814,936
Ensembl chrNW_004936569:1,807,805...1,815,562 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004936595:487,918...513,843
Ensembl chrNW_004936595:485,554...513,815 		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 chrNW_004936553:7,157,526...7,943,703 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 chrNW_004936886:441,389...447,733
Ensembl chrNW_004936886:441,763...447,159 		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 chrNW_004936682:2,057,331...2,091,034
Ensembl chrNW_004936682:2,057,190...2,164,429 		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 chrNW_004936682:1,676,301...1,725,132
Ensembl chrNW_004936682:1,676,290...1,722,783 		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 chrNW_004936534:5,029,008...5,076,467
Ensembl chrNW_004936534:5,028,911...5,077,199 		JBrowse link
G Dtna dystrobrevin alpha ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936517:10,105,767...10,357,672
Ensembl chrNW_004936517:10,105,760...10,420,233 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936809:1,127,701...1,130,195
Ensembl chrNW_004936809:1,127,710...1,130,195 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004936560:1,325,521...1,466,216
Ensembl chrNW_004936560:1,337,842...1,462,285 		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 chrNW_004936513:11,025,753...11,064,312
Ensembl chrNW_004936513:11,025,715...11,064,312 		JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004936764:613,863...656,220
Ensembl chrNW_004936764:613,193...656,224 		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 chrNW_004936479:15,756,370...15,784,365
Ensembl chrNW_004936479:15,756,370...15,784,359 		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 chrNW_004936813:474,938...484,753
Ensembl chrNW_004936813:474,949...484,760 		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 chrNW_004936473:22,649,107...22,774,719
Ensembl chrNW_004936473:22,649,133...22,696,959 		JBrowse link
G Ilk integrin linked kinase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:11402068 PMID:11694518 PMID:14745274 PMID:16199547 More... NCBI chrNW_004936842:661,961...667,993
Ensembl chrNW_004936842:661,996...667,993 		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 chrNW_004936530:2,570,365...2,606,743 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 chrNW_004936490:16,671,176...16,694,552
Ensembl chrNW_004936490:16,668,575...16,694,615 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:15368194 PMID:16487223 PMID:17310097 PMID:22581653 PMID:24681347 More... NCBI chrNW_004936500:8,067,009...8,072,383
Ensembl chrNW_004936500:8,068,188...8,068,553 		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 chrNW_004936527:6,380,222...6,412,390
Ensembl chrNW_004936527:6,379,669...6,412,390 		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 chrNW_004936679:803,131...938,022
Ensembl chrNW_004936679:802,885...937,721 		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 chrNW_004936479:9,584,221...9,622,330
Ensembl chrNW_004936479:9,584,221...9,610,420 		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 chrNW_004936804:196,592...259,168
Ensembl chrNW_004936804:196,598...259,168 		JBrowse link
G Lmna lamin A/C 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:8621584 PMID:9536098 PMID:12057196 PMID:16407522 PMID:16585054 More... NCBI chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		JBrowse link
G LOC101972165 myosin-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 chrNW_004936722:967,443...991,530
Ensembl chrNW_004936722:969,384...991,129 		JBrowse link
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004936550:1,439,652...1,577,804
Ensembl chrNW_004936550:1,439,646...1,573,637 		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 chrNW_004936562:1,871,194...1,890,092
Ensembl chrNW_004936562:1,871,410...1,889,648 		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 chrNW_004936558:3,746,227...3,753,576
Ensembl chrNW_004936558:3,745,864...3,753,681 		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 chrNW_004936596:649,887...655,110
Ensembl chrNW_004936596:649,875...655,110 		JBrowse link
G Myl9 myosin light chain 9 ISO RGD PMID:16076902 RGD:1582589 NCBI chrNW_004936561:4,478,400...4,485,457
Ensembl chrNW_004936561:4,475,021...4,485,463 		JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936485:18,782,890...18,795,942
Ensembl chrNW_004936485:18,782,887...18,795,948 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936672:1,351,053...1,481,954
Ensembl chrNW_004936672:1,351,002...1,482,124 		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 chrNW_004936869:244,599...284,228
Ensembl chrNW_004936869:244,591...284,194 		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 chrNW_004936521:10,050,638...10,142,395
Ensembl chrNW_004936521:10,050,638...10,142,395 		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 chrNW_004936520:6,658,555...6,992,643
Ensembl chrNW_004936520:6,658,920...6,987,116 		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 chrNW_004936571:4,704,009...4,728,305
Ensembl chrNW_004936571:4,703,955...4,729,018 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:14672715 PMID:15580566 NCBI chrNW_004936602:4,241,743...4,259,866
Ensembl chrNW_004936602:4,241,737...4,260,549 		JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004936554:3,844,896...3,874,168
Ensembl chrNW_004936554:3,844,743...3,874,174 		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 chrNW_004936607:3,458,406...3,530,066
Ensembl chrNW_004936607:3,458,073...3,532,543 		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 chrNW_004936737:400,819...446,768
Ensembl chrNW_004936737:404,846...446,985 		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 chrNW_004936527:6,907,723...7,168,222
Ensembl chrNW_004936527:6,909,044...7,167,600 		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 chrNW_004936602:1,089,979...1,114,376
Ensembl chrNW_004936602:1,051,205...1,117,096 		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 chrNW_004936486:1,472,170...1,652,314
Ensembl chrNW_004936486:1,472,227...1,653,209 		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 chrNW_004936484:15,402,488...15,825,410
Ensembl chrNW_004936484:15,403,819...15,824,441 		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 chrNW_004936473:27,883,526...27,963,994
Ensembl chrNW_004936473:27,883,526...27,963,994 		JBrowse link
G Shoc2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936486:1,723,253...1,809,416 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 chrNW_004936508:12,162,553...12,281,812
Ensembl chrNW_004936508:12,162,547...12,281,820 		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 chrNW_004936842:667,960...669,367
Ensembl chrNW_004936842:667,936...669,441 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936809:1,160,265...1,168,956
Ensembl chrNW_004936809:1,160,247...1,171,097 		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 chrNW_004936490:14,856,433...14,857,692
Ensembl chrNW_004936490:14,856,433...14,857,722 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26214305 PMID:28492532 PMID:33552729 NCBI chrNW_004936602:104,424...113,692
Ensembl chrNW_004936602:104,033...113,738 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936492:14,972,391...15,000,115
Ensembl chrNW_004936492:14,971,968...15,000,060 		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 chrNW_004936886:437,754...440,925
Ensembl chrNW_004936886:437,754...440,458 		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 chrNW_004936886:425,331...434,546
Ensembl chrNW_004936886:425,438...435,500 		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 chrNW_004936567:3,052,167...3,069,077
Ensembl chrNW_004936567:3,056,845...3,068,887 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chrNW_004936471:23,643,645...23,670,775
Ensembl chrNW_004936471:23,643,613...23,670,775 		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 chrNW_004936474:10,598,571...10,610,197
Ensembl chrNW_004936474:10,598,561...10,633,001 		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 chrNW_004936509:7,733,426...7,999,503 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 chrNW_004936682:1,628,489...1,635,495
Ensembl chrNW_004936682:1,628,341...1,635,566 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936619:3,789,940...3,847,286
Ensembl chrNW_004936619:3,791,418...3,847,626 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy ClinVar PMID:20474083 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chrNW_004936521:5,051,077...5,163,036
Ensembl chrNW_004936521:5,050,900...5,163,086 		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 chrNW_004936596:4,120,292...4,140,432
Ensembl chrNW_004936596:4,120,295...4,140,432 		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 chrNW_004936482:13,782,571...13,999,561
Ensembl chrNW_004936482:13,743,433...13,999,348 		JBrowse link
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 chrNW_004936548:4,983,461...5,110,693
Ensembl chrNW_004936548:4,987,847...5,108,104 		JBrowse link
G Acacb acetyl-CoA carboxylase beta ISO RGD PMID:31709908 RGD:329901803 NCBI chrNW_004936769:950,970...1,053,671
Ensembl chrNW_004936769:950,845...1,051,887 		JBrowse link
G Ace2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:myocardium (human) RGD PMID:32448590 RGD:40818260 NCBI chrNW_004936470:4,964,526...5,011,808
Ensembl chrNW_004936470:4,965,332...5,011,702 		JBrowse link
G Acp2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936562:1,952,581...1,960,327
Ensembl chrNW_004936562:1,952,536...1,960,327 		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 chrNW_004936673:1,092,700...1,098,256
Ensembl chrNW_004936673:1,092,717...1,100,331 		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 chrNW_004936484:16,186,844...16,248,394
Ensembl chrNW_004936484:16,186,642...16,248,400 		JBrowse link
G Adgrl4 adhesion G protein-coupled receptor L4 ISO protein:decreased expression:heart: RGD PMID:22606234 RGD:13838662 NCBI chrNW_004936571:5,587,077...5,691,623
Ensembl chrNW_004936571:5,587,059...5,691,670 		JBrowse link
G Adm adrenomedullin ISO associated with Diabetes Mellitus, Experimental;protein:decreased expression:cardiomyocyte RGD PMID:17355819 RGD:1625294 NCBI chrNW_004936528:8,005,223...8,007,586
Ensembl chrNW_004936528:8,005,189...8,007,643 		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 chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO RGD PMID:19889059 RGD:401794453 NCBI chrNW_004936546:3,737,908...3,783,492
Ensembl chrNW_004936546:3,737,851...3,783,588 		JBrowse link
G Akap6 A-kinase anchoring protein 6 ISO RGD PMID:24812305 RGD:11251930 NCBI chrNW_004936494:6,744,923...7,228,670
Ensembl chrNW_004936494:6,744,892...7,228,686 		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 chrNW_004936621:2,247,082...2,374,407
Ensembl chrNW_004936621:2,246,179...2,374,454 		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 chrNW_004936483:16,862,194...16,913,791
Ensembl chrNW_004936483:16,862,251...16,912,558 		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 chrNW_004936563:3,520,195...4,170,716
Ensembl chrNW_004936563:3,520,193...4,171,362 		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 chrNW_004936601:3,502,844...3,510,919
Ensembl chrNW_004936601:3,502,844...3,511,003 		JBrowse link
G Aph1b aph-1 homolog B, gamma-secretase subunit ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936471:23,839,962...23,869,788
Ensembl chrNW_004936471:23,839,907...23,869,935 		JBrowse link
G Arfgap2 ADP ribosylation factor GTPase activating protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936562:1,996,000...2,005,850
Ensembl chrNW_004936562:1,996,000...2,006,554 		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 chrNW_004936486:8,985,871...9,007,461
Ensembl chrNW_004936486:8,985,761...9,007,502 		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 chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921 		JBrowse link
G Becn1 beclin 1 ISO protein:increased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chrNW_004936490:17,518,100...17,531,126
Ensembl chrNW_004936490:17,517,751...17,531,151 		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 chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664 		JBrowse link
G C2cd4a C2 calcium dependent domain containing 4A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936471:22,847,090...22,850,006 JBrowse link
G C2cd4b C2 calcium dependent domain containing 4B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936471:22,939,454...22,941,728 JBrowse link
G Ca12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936471:23,876,889...23,929,720
Ensembl chrNW_004936471:23,876,812...23,929,987 		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 chrNW_004936606:2,168,104...2,867,560
Ensembl chrNW_004936606:2,168,625...2,865,758 		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 chrNW_004936520:8,951,994...9,164,039
Ensembl chrNW_004936520:8,955,164...9,295,331 		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 chrNW_004936596:4,120,292...4,140,432
Ensembl chrNW_004936596:4,120,295...4,140,432 		JBrowse link
G Capn2 calpain 2 ISO protein:increased expression, activity:nucleus RGD PMID:25820375 RGD:13792650 NCBI chrNW_004936526:879,765...932,682
Ensembl chrNW_004936526:879,765...932,682 		JBrowse link
G Casp3 caspase 3 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:18192848 RGD:2293330 NCBI chrNW_004936554:4,571,072...4,593,765 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 chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454 		JBrowse link
G Cav1 caveolin 1 ISO MouseDO NCBI chrNW_004936589:2,504,235...2,536,778
Ensembl chrNW_004936589:2,504,224...2,537,170 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004936602:4,264,896...4,278,160
Ensembl chrNW_004936602:4,264,889...4,278,161 		JBrowse link
G Cd36 CD36 molecule (CD36 blood group) ISO mRNA:increased expression:heart RGD PMID:19189074 RGD:2307222 NCBI chrNW_004936810:791,823...838,303
Ensembl chrNW_004936810:758,182...838,365 		JBrowse link
G Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004936529:437,476...464,012
Ensembl chrNW_004936529:437,418...464,017 		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 chrNW_004936658:1,351,968...1,490,861
Ensembl chrNW_004936658:1,352,264...1,491,079 		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 chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444 		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 chrNW_004936612:2,532,851...2,536,473
Ensembl chrNW_004936612:2,532,812...2,537,495 		JBrowse link
G Cs citrate synthase ISO RGD PMID:10354207 RGD:243048483 NCBI chrNW_004936646:676,926...704,988
Ensembl chrNW_004936646:678,307...692,777 		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 chrNW_004936654:271,067...313,251
Ensembl chrNW_004936654:271,067...289,823 		JBrowse link
G Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936562:2,005,835...2,199,527
Ensembl chrNW_004936562:2,005,626...2,199,691 		JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936501:13,286,821...13,291,280 JBrowse link
G Ctnnb1 catenin beta 1 treatment ISO protein:increased phosphorylation:myocyte: RGD PMID:14993121 RGD:1598718 NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293 		JBrowse link
G Ctsl cathepsin L ISO RGD PMID:19096818 RGD:2315555 NCBI chrNW_004936680:3,047,355...3,050,640 JBrowse link
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936562:1,960,406...1,974,809
Ensembl chrNW_004936562:1,960,406...1,974,867 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:32528171 NCBI chrNW_004936569:1,807,902...1,814,936
Ensembl chrNW_004936569:1,807,805...1,815,562 		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 chrNW_004936553:7,157,526...7,943,703 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 chrNW_004936886:441,389...447,733
Ensembl chrNW_004936886:441,763...447,159 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO protein:increased expression:cardiac muscle tissue of interventricular septum (human) RGD PMID:32051532 RGD:126925233 NCBI chrNW_004936659:520,181...565,496
Ensembl chrNW_004936659:520,493...565,416 		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 chrNW_004936682:2,057,331...2,091,034
Ensembl chrNW_004936682:2,057,190...2,164,429 		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 chrNW_004936682:1,676,301...1,725,132
Ensembl chrNW_004936682:1,676,290...1,722,783 		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 chrNW_004936534:5,029,008...5,076,467
Ensembl chrNW_004936534:5,028,911...5,077,199 		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 chrNW_004936517:10,105,767...10,357,672
Ensembl chrNW_004936517:10,105,760...10,420,233 		JBrowse link
G Edn1 endothelin 1 ISO associated with Diabetes Mellitus, Experimental; protein:increased secretion:serum (rat) RGD PMID:19000375 RGD:2302065 NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004936809:1,127,701...1,130,195
Ensembl chrNW_004936809:1,127,710...1,130,195 		JBrowse link
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chrNW_004936672:1,607,914...1,661,531
Ensembl chrNW_004936672:1,609,193...1,661,528 		JBrowse link
G Ephx2 epoxide hydrolase 2 ISO mRNA, protein:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chrNW_004936675:350,357...392,919
Ensembl chrNW_004936675:350,342...392,551 		JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936576:5,140,577...5,165,527
Ensembl chrNW_004936576:5,140,577...5,165,527 		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 chrNW_004936560:1,325,521...1,466,216
Ensembl chrNW_004936560:1,337,842...1,462,285 		JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chrNW_004936594:5,591,785...5,609,886
Ensembl chrNW_004936594:5,592,609...5,608,972 		JBrowse link
G Fbxl22 F-box and leucine rich repeat protein 22 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936471:24,131,046...24,139,835
Ensembl chrNW_004936471:24,132,226...24,136,676 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004936513:11,025,753...11,064,312
Ensembl chrNW_004936513:11,025,715...11,064,312 		JBrowse link
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004936517:8,614,384...9,044,894
Ensembl chrNW_004936517:8,614,867...9,044,894 		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 chrNW_004936664:577,109...586,848
Ensembl chrNW_004936664:578,126...586,795 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18414213 PMID:22037554 PMID:25741868 PMID:28492532 NCBI chrNW_004936559:6,612,318...6,680,690
Ensembl chrNW_004936559:6,619,531...6,670,727
Ensembl chrNW_004936559:6,619,531...6,670,727 		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 chrNW_004936479:15,756,370...15,784,365
Ensembl chrNW_004936479:15,756,370...15,784,359 		JBrowse link
G Fxn frataxin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15936968 PMID:25741868 NCBI chrNW_004936503:5,323,206...5,343,228 JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22644586 PMID:25741868 PMID:28492532 NCBI chrNW_004936594:4,125,595...4,142,261 JBrowse link
G Gja5 gap junction protein alpha 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004936867:269,477...279,549 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 chrNW_004936813:474,938...484,753
Ensembl chrNW_004936813:474,949...484,760 		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 chrNW_004936473:22,649,107...22,774,719
Ensembl chrNW_004936473:22,649,133...22,696,959 		JBrowse link
G Gpr149 G protein-coupled receptor 149 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004936519:1,997,492...2,070,157
Ensembl chrNW_004936519:1,998,086...2,070,481 		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 chrNW_004936596:3,527,903...3,532,931
Ensembl chrNW_004936596:3,527,670...3,531,494 		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 chrNW_004936471:32,527,551...32,570,548
Ensembl chrNW_004936471:32,529,847...32,570,284 		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 chrNW_004936471:24,142,227...24,330,966
Ensembl chrNW_004936471:24,141,928...24,330,967 		JBrowse link
G Hey2 hes related family bHLH transcription factor with YRPW motif 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20001863 NCBI chrNW_004936639:3,705,225...3,714,696
Ensembl chrNW_004936639:3,703,447...3,716,820 		JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased activity:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chrNW_004936543:2,110,351...2,111,896
Ensembl chrNW_004936543:2,110,304...2,112,186 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chrNW_004936506:1,678,069...1,687,632 JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO MouseDO NCBI chrNW_004936525:5,711,894...5,729,074
Ensembl chrNW_004936525:5,712,329...5,729,831 		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 chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chrNW_004936483:15,845,777...15,864,341
Ensembl chrNW_004936483:15,845,792...15,864,341 		JBrowse link
G Igf1 insulin like growth factor 1 severity ISO RGD PMID:12135130 RGD:1598422 NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351 		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 chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925 		JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8660453 NCBI chrNW_004936816:1,002,137...1,003,357
Ensembl chrNW_004936816:1,002,137...1,003,357 		JBrowse link
G Irf9 interferon regulatory factor 9 exacerbates
ameliorates		 ISO RGD PMID:24144649 RGD:125093743 NCBI chrNW_004936722:380,193...385,887
Ensembl chrNW_004936722:380,572...384,372 		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 chrNW_004936530:2,570,365...2,606,743 JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936490:16,671,176...16,694,552
Ensembl chrNW_004936490:16,668,575...16,694,615 		JBrowse link
G Kat8 lysine acetyltransferase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27768893 NCBI chrNW_004936501:13,475,676...13,487,617
Ensembl chrNW_004936501:13,474,735...13,489,341 		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 chrNW_004936500:7,998,464...8,007,848
Ensembl chrNW_004936500:8,007,291...8,007,680 		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 chrNW_004936500:8,067,009...8,072,383
Ensembl chrNW_004936500:8,068,188...8,068,553 		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 chrNW_004936527:6,380,222...6,412,390
Ensembl chrNW_004936527:6,379,669...6,412,390 		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 chrNW_004936655:3,447,026...3,459,569
Ensembl chrNW_004936655:3,447,321...3,458,312 		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 chrNW_004936572:3,344,942...3,373,690
Ensembl chrNW_004936572:3,344,937...3,373,747 		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 chrNW_004936548:5,125,583...5,132,490
Ensembl chrNW_004936548:5,125,555...5,133,078 		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 chrNW_004936794:707,122...994,206
Ensembl chrNW_004936794:707,119...994,778 		JBrowse link
G Klhl24 kelch like family member 24 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004936578:6,116,117...6,151,244
Ensembl chrNW_004936578:6,116,068...6,151,297 		JBrowse link
G Klhl41 kelch like family member 41 ISO RGD PMID:11583900 RGD:1580798 NCBI chrNW_004936509:47,298...62,608
Ensembl chrNW_004936509:47,463...66,556 		JBrowse link
G Lactb lactamase beta ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936471:23,713,144...23,732,214
Ensembl chrNW_004936471:23,713,100...23,732,216 		JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936639:259,662...825,170
Ensembl chrNW_004936639:259,889...825,065 		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 chrNW_004936679:803,131...938,022
Ensembl chrNW_004936679:802,885...937,721 		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 chrNW_004936479:9,584,221...9,622,330
Ensembl chrNW_004936479:9,584,221...9,610,420 		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 chrNW_004936804:196,592...259,168
Ensembl chrNW_004936804:196,598...259,168 		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 chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		JBrowse link
G LOC101956274 cytochrome b-c1 complex subunit 1, mitochondrial ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004936529:385,942...396,196
Ensembl chrNW_004936529:385,851...396,230 		JBrowse link
G LOC101959085 cytochrome c oxidase assembly protein COX15 homolog ISO RGD PMID:12474143 RGD:1598468 NCBI chrNW_004936636:385,198...401,090
Ensembl chrNW_004936636:385,018...401,851 		JBrowse link
G LOC101962609 protein SCO2 homolog, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10749987 PMID:11027508 PMID:14970747 RGD:1580020 NCBI chrNW_004936629:318,581...320,804
Ensembl chrNW_004936629:318,581...320,795 		JBrowse link
G LOC101968921 angiotensin-converting enzyme no_association ISO DNA:insertion/deletion:intron RGD PMID:9270088 RGD:1566491 NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177 		JBrowse link
G LOC101969148 cytochrome P450 1A1 ISO mRNA:increased expression:heatt (rat)
mRNA, protein:increased expression:heart (rat)		 RGD PMID:19889059 PMID:24247421 RGD:401793741 RGD:401794453 NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332 		JBrowse link
G LOC101970101 cytochrome P450 1B1 ISO mRNA, protein:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chrNW_004936663:345,021...355,188
Ensembl chrNW_004936663:348,368...355,191 		JBrowse link
G LOC101972165 myosin-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 chrNW_004936722:967,443...991,530
Ensembl chrNW_004936722:969,384...991,129 		JBrowse link
G LOC101973029 cytochrome P450 2E1 ISO mRNA, protein:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chrNW_004936486:19,691,822...19,702,684
Ensembl chrNW_004936486:19,691,822...19,702,102 		JBrowse link
G LOC101977901 protein tyrosine phosphatase receptor type H ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936886:457,873...482,345 JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chrNW_004936672:1,550,865...1,606,268
Ensembl chrNW_004936672:1,568,732...1,602,931 		JBrowse link
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936562:2,211,519...2,262,899
Ensembl chrNW_004936562:2,211,514...2,263,937 		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 chrNW_004936619:2,505,300...2,523,500
Ensembl chrNW_004936619:2,505,542...2,523,500 		JBrowse link
G Madd MAP kinase activating death domain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936562:1,891,120...1,936,559
Ensembl chrNW_004936562:1,892,033...1,932,418 		JBrowse link
G Map1lc3a microtubule associated protein 1 light chain 3 alpha ISO protein:increased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chrNW_004936561:6,104,748...6,106,348
Ensembl chrNW_004936561:6,104,742...6,106,699 		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 chrNW_004936588:2,338,127...2,377,090
Ensembl chrNW_004936588:2,336,858...2,377,090 		JBrowse link
G Map3k7 mitogen-activated protein kinase kinase kinase 7 treatment ISO protein:increased phosphorylation:heart (human) RGD PMID:27249171 RGD:155646134 NCBI chrNW_004936510:1,772,971...1,836,075
Ensembl chrNW_004936510:1,772,971...1,837,765 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004936578:2,804,460...2,857,731
Ensembl chrNW_004936578:2,804,460...2,869,582 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:12952838 RGD:1582538 NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:plasma RGD PMID:18585501 RGD:5130889 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma RGD PMID:18585501 RGD:5130889 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Mtpn myotrophin ISO MouseDO NCBI chrNW_004936592:644,618...679,615
Ensembl chrNW_004936592:644,430...679,800 		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 chrNW_004936562:1,871,194...1,890,092
Ensembl chrNW_004936562:1,871,410...1,889,648 		JBrowse link
G Mybphl myosin binding protein H like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004936704:815,325...831,149
Ensembl chrNW_004936704:815,271...830,084 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000973 NCBI chrNW_004936470:20,480,844...20,485,955
Ensembl chrNW_004936470:20,480,829...20,485,965 		JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004936561:5,721,353...5,744,623
Ensembl chrNW_004936561:5,721,587...5,744,867 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chrNW_004936672:1,303,510...1,321,969
Ensembl chrNW_004936672:1,300,341...1,322,065 		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 chrNW_004936558:3,746,227...3,753,576
Ensembl chrNW_004936558:3,745,864...3,753,681 		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 chrNW_004936596:649,887...655,110
Ensembl chrNW_004936596:649,875...655,110 		JBrowse link
G Myl4 myosin light chain 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chrNW_004936541:2,779,669...2,792,219
Ensembl chrNW_004936541:2,780,047...2,791,603 		JBrowse link
G Myl7 myosin light chain 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chrNW_004936478:19,099,991...19,101,985
Ensembl chrNW_004936478:19,100,029...19,102,199 		JBrowse link
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 chrNW_004936485:18,782,890...18,795,942
Ensembl chrNW_004936485:18,782,887...18,795,948 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21256114 PMID:23143600 More... NCBI chrNW_004936672:1,351,053...1,481,954
Ensembl chrNW_004936672:1,351,002...1,482,124 		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 chrNW_004936869:244,599...284,228
Ensembl chrNW_004936869:244,591...284,194 		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 chrNW_004936521:10,050,638...10,142,395
Ensembl chrNW_004936521:10,050,638...10,142,395 		JBrowse link
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:32722639 NCBI chrNW_004936596:1,946,058...1,953,734
Ensembl chrNW_004936596:1,946,111...1,953,698 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chrNW_004936631:2,503,353...2,538,957
Ensembl chrNW_004936631:2,499,062...2,538,801 		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 chrNW_004936903:503,633...514,235
Ensembl chrNW_004936903:499,300...514,893 		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 chrNW_004936520:6,658,555...6,992,643
Ensembl chrNW_004936520:6,658,920...6,987,116 		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 chrNW_004936571:4,704,009...4,728,305
Ensembl chrNW_004936571:4,703,955...4,729,018 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936609:2,406,004...2,408,980
Ensembl chrNW_004936609:2,406,004...2,409,046 		JBrowse link
G Nmnat2 nicotinamide nucleotide adenylyltransferase 2 ISO protein:decreased expression, decreased activity:heart RGD PMID:22449973 RGD:13782043 NCBI chrNW_004936481:6,443,286...6,585,784
Ensembl chrNW_004936481:6,443,240...6,582,026 		JBrowse link
G Npm1 nucleophosmin 1 ISO protein:increased expression:cardiomyocyte: RGD PMID:21444791 RGD:11535018 NCBI chrNW_004936609:3,712,628...3,725,635 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 chrNW_004936474:671,362...673,610 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 chrNW_004936474:683,325...684,662
Ensembl chrNW_004936474:683,325...684,665 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1 group H member 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936562:1,937,665...1,946,680
Ensembl chrNW_004936562:1,937,667...1,946,669 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004936477:21,460,442...21,531,563
Ensembl chrNW_004936477:21,460,478...21,534,909 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004936602:4,241,743...4,259,866
Ensembl chrNW_004936602:4,241,737...4,260,549 		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 chrNW_004936562:1,988,839...1,995,597
Ensembl chrNW_004936562:1,989,662...1,995,580 		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 chrNW_004936554:3,844,896...3,874,168
Ensembl chrNW_004936554:3,844,743...3,874,174 		JBrowse link
G Pepd peptidase D ISO MouseDO NCBI chrNW_004936570:2,315,981...2,431,878
Ensembl chrNW_004936570:2,315,954...2,431,884 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO MouseDO NCBI chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179 		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 chrNW_004936607:3,458,406...3,530,066
Ensembl chrNW_004936607:3,458,073...3,532,543 		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 chrNW_004936658:1,443,626...1,453,770
Ensembl chrNW_004936658:1,443,795...1,453,839 		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 chrNW_004936483:15,178,947...15,196,277
Ensembl chrNW_004936483:15,179,342...15,195,258 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2536513 PMID:2831920 PMID:2853496 PMID:8381257 PMID:8928979 NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109 		JBrowse link
G Ppp6r1 protein phosphatase 6 regulatory subunit 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936886:500,395...511,802
Ensembl chrNW_004936886:500,395...511,799 		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 chrNW_004936527:6,907,723...7,168,222
Ensembl chrNW_004936527:6,909,044...7,167,600 		JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936562:1,810,883...1,817,040
Ensembl chrNW_004936562:1,810,864...1,823,077 		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 chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448 		JBrowse link
G Rab8b RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936471:23,768,460...23,832,072
Ensembl chrNW_004936471:23,768,415...23,834,129 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17603482 PMID:17603483 NCBI chrNW_004936602:1,089,979...1,114,376
Ensembl chrNW_004936602:1,051,205...1,117,096 		JBrowse link
G Rapsn receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936562:1,796,087...1,804,153
Ensembl chrNW_004936562:1,795,905...1,804,181 		JBrowse link
G Rassf1 Ras association domain family member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19652091 NCBI chrNW_004936529:1,857,177...1,866,198
Ensembl chrNW_004936529:1,857,145...1,867,260 		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 chrNW_004936486:1,472,170...1,652,314
Ensembl chrNW_004936486:1,472,227...1,653,209 		JBrowse link
G Retn resistin ISO DNA, protein:SNP, increased expression:promoter, serum:-420G>C (rs1862513) (human) RGD PMID:20171599 RGD:7207251 NCBI chrNW_004936588:4,705,295...4,706,653
Ensembl chrNW_004936588:4,705,119...4,706,656 		JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004936529:1,306,849...1,336,032
Ensembl chrNW_004936529:1,306,968...1,336,032 		JBrowse link
G Rps27l ribosomal protein S27 like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936471:23,738,896...23,742,355
Ensembl chrNW_004936471:23,738,823...23,745,382 		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 chrNW_004936484:15,402,488...15,825,410
Ensembl chrNW_004936484:15,403,819...15,824,441 		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 chrNW_004936473:27,883,526...27,963,994
Ensembl chrNW_004936473:27,883,526...27,963,994 		JBrowse link
G Sgca sarcoglycan alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936490:11,470,155...11,482,377
Ensembl chrNW_004936490:11,468,935...11,482,468 		JBrowse link
G Sgcb sarcoglycan beta ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936482:15,150,805...15,163,340
Ensembl chrNW_004936482:15,150,125...15,163,394 		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 chrNW_004936554:4,130,461...4,135,046
Ensembl chrNW_004936554:4,130,459...4,135,044 		JBrowse link
G Slc30a5 solute carrier family 30 member 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:33547425 NCBI chrNW_004936480:418,621...454,303
Ensembl chrNW_004936480:417,205...454,277 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19574547 PMID:28492532 PMID:30924982 NCBI chrNW_004936562:1,811,479...1,825,857
Ensembl chrNW_004936562:1,816,049...1,825,892 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19111554 NCBI chrNW_004936474:11,460,266...11,517,420
Ensembl chrNW_004936474:11,459,929...11,517,478 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chrNW_004936672:1,686,070...1,838,315
Ensembl chrNW_004936672:1,685,734...1,838,315 		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 chrNW_004936508:12,162,553...12,281,812
Ensembl chrNW_004936508:12,162,547...12,281,820 		JBrowse link
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19574547 PMID:28492532 PMID:30924982 NCBI chrNW_004936562:1,852,759...1,870,647
Ensembl chrNW_004936562:1,852,740...1,870,472 		JBrowse link
G Syt5 synaptotagmin 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936886:451,400...457,093
Ensembl chrNW_004936886:449,194...457,088 		JBrowse link
G Tbca tubulin folding cofactor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chrNW_004936549:5,682,558...5,746,784
Ensembl chrNW_004936549:5,682,630...5,746,777 		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 chrNW_004936490:14,856,433...14,857,692
Ensembl chrNW_004936490:14,856,433...14,857,722 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO RGD PMID:22134166 RGD:11073617 NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272 		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 chrNW_004936488:4,986,712...5,008,728
Ensembl chrNW_004936488:4,986,748...5,008,496 		JBrowse link
G Tgif1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chrNW_004936672:1,128,104...1,135,844
Ensembl chrNW_004936672:1,128,108...1,136,292 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:15056834 RGD:1580653 NCBI chrNW_004936594:3,232,433...3,244,241
Ensembl chrNW_004936594:3,232,355...3,244,241 		JBrowse link
G Tln2 talin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936471:23,073,267...23,479,286
Ensembl chrNW_004936471:23,135,006...23,479,288 		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 chrNW_004936602:104,424...113,692
Ensembl chrNW_004936602:104,033...113,738 		JBrowse link
G Tmem86b transmembrane protein 86B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936886:496,380...500,320
Ensembl chrNW_004936886:496,930...498,553 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31983221 NCBI chrNW_004936492:14,972,391...15,000,115
Ensembl chrNW_004936492:14,971,968...15,000,060 		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 chrNW_004936473:3,290,961...3,293,920
Ensembl chrNW_004936473:3,290,913...3,294,132 		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 chrNW_004936886:437,754...440,925
Ensembl chrNW_004936886:437,754...440,458 		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 chrNW_004936886:425,331...434,546
Ensembl chrNW_004936886:425,438...435,500 		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 chrNW_004936567:3,052,167...3,069,077
Ensembl chrNW_004936567:3,056,845...3,068,887 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000973 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425 		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 chrNW_004936471:23,643,645...23,670,775
Ensembl chrNW_004936471:23,643,613...23,670,775 		JBrowse link
G Traf6 TNF receptor associated factor 6 treatment ISO protein:increased expression:heart (human) RGD PMID:27249171 RGD:155646134 NCBI chrNW_004936533:1,857,685...1,874,973
Ensembl chrNW_004936533:1,857,666...1,876,120 		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 chrNW_004936474:10,598,571...10,610,197
Ensembl chrNW_004936474:10,598,561...10,633,001 		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 chrNW_004936664:3,093,258...3,124,473
Ensembl chrNW_004936664:3,093,367...3,124,117 		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 chrNW_004936509:7,733,426...7,999,503 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 chrNW_004936682:1,628,489...1,635,495
Ensembl chrNW_004936682:1,628,341...1,635,566 		JBrowse link
G Ucn urocortin ISO RGD PMID:14577573 RGD:1580792 NCBI chrNW_004936493:5,258,574...5,260,692
Ensembl chrNW_004936493:5,260,219...5,260,602 		JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936471:24,032,644...24,130,543
Ensembl chrNW_004936471:24,035,655...24,130,997 		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 chrNW_004936521:5,051,077...5,163,036
Ensembl chrNW_004936521:5,050,900...5,163,086 		JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936471:22,661,899...22,842,144
Ensembl chrNW_004936471:22,661,447...22,842,150 		JBrowse link
G Xirp1 xin actin binding repeat containing 1 ISO MouseDO NCBI chrNW_004936473:28,434,910...28,444,146
Ensembl chrNW_004936473:28,436,996...28,444,176 		JBrowse link
G Yy1 YY1 transcription factor ISO RGD PMID:12754214 RGD:1580831 NCBI chrNW_004936604:3,911,407...3,945,405 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 chrNW_004936673:1,092,700...1,098,256
Ensembl chrNW_004936673:1,092,717...1,100,331 		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: 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:9536098 PMID:14567970 PMID:16199547 PMID:17097056 PMID:17576681 More... NCBI chrNW_004936484:16,186,844...16,248,394
Ensembl chrNW_004936484:16,186,642...16,248,400 		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 chrNW_004936601:3,502,844...3,510,919
Ensembl chrNW_004936601:3,502,844...3,511,003 		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 chrNW_004936486:8,985,871...9,007,461
Ensembl chrNW_004936486:8,985,761...9,007,502 		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 chrNW_004936606:2,168,104...2,867,560
Ensembl chrNW_004936606:2,168,625...2,865,758 		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 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:17655857 PMID:23861362 More... NCBI chrNW_004936596:4,120,292...4,140,432
Ensembl chrNW_004936596:4,120,295...4,140,432 		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