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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 chr 9:28,279,479...28,284,825
Ensembl chr 9:28,279,523...28,285,937 		JBrowse link
G HOXB1 homeobox B1 ISO RGD PMID:26284287 RGD:11052805 NCBI chr16:68,940,726...68,945,153
Ensembl chr16:68,941,746...68,943,111 		JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8660453 NCBI chr 1:1,965,128...1,969,090 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 chr12:3,301,643...3,507,300
Ensembl chr12:3,301,175...3,459,607 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chr13:41,670,416...41,755,549 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 chr 2:1,756,911...1,769,452
Ensembl chr 2:1,757,420...1,768,143 		JBrowse link
G IL6 interleukin 6 severity ISO RGD PMID:23969418 RGD:12792206 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		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 chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585 		JBrowse link
G SMAD6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28492532 PMID:30796334 NCBI chr26:16,760,117...16,841,286
Ensembl chr26:16,759,260...16,840,240 		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 chr21:23,166,020...23,222,416
Ensembl chr21:23,166,109...23,224,657 		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 chr 9:106,920,520...106,923,424
Ensembl chr 9:106,920,610...106,922,058 		JBrowse link
G APOB apolipoprotein B ISO RGD PMID:11903341 RGD:1578425 NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704 		JBrowse link
G BAMBI BMP and activin membrane bound inhibitor ISO protein:increased expression:myocardium: RGD PMID:23168040 RGD:14390160 NCBI chr 9:28,279,479...28,284,825
Ensembl chr 9:28,279,523...28,285,937 		JBrowse link
G EGFR epidermal growth factor receptor ISO RGD PMID:10700187 RGD:734918 NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239 		JBrowse link
G EGR1 early growth response 1 ISO protein:increased expression:aortic valve cusp RGD PMID:15597579 RGD:1626496 NCBI chr23:41,139,636...41,143,598
Ensembl chr23:41,140,065...41,142,374 		JBrowse link
G ELN elastin ISO RGD PMID:11175284 RGD:1580327 NCBI chr28:8,999,164...9,048,703 JBrowse link
G ENO3 enolase 3 ISO mRNA:decreased expression:cardiac muscle cell RGD PMID:8594891 RGD:2301765 NCBI chr16:4,431,321...4,439,742
Ensembl chr16:4,431,436...4,439,786 		JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:15533858 RGD:1580704 NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486 		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 chr17:56,651,752...56,928,650
Ensembl chr17:56,651,596...56,928,126 		JBrowse link
G LGALS3 galectin 3 ISO RGD PMID:15520318 RGD:9685214 NCBI chr24:32,311,343...32,328,335
Ensembl chr24:32,311,271...32,328,339 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:15780799 RGD:1582522 NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767 		JBrowse link
G NFATC1 nuclear factor of activated T cells 1 severity ISO RGD PMID:23578508 RGD:267010069 NCBI chr18:690,313...815,804
Ensembl chr18:689,671...811,100 		JBrowse link
G NPPC natriuretic peptide C ISO mRNA:decreased expression:aortic valve RGD PMID:17709640 RGD:1642267 NCBI chr10:117,919,889...117,924,306
Ensembl chr10:117,919,760...117,924,273 		JBrowse link
G OGT O-linked N-acetylglucosamine (GlcNAc) transferase ISO mRNA:increased expression:heart left ventricle (human) RGD PMID:22128088 RGD:9590202 NCBI chr  X:61,351,047...61,393,541
Ensembl chr  X:61,351,054...61,394,305 		JBrowse link
G PPP3CB protein phosphatase 3 catalytic subunit beta ISO RGD PMID:15533858 RGD:1580704 NCBI chr 9:57,782,256...57,841,307
Ensembl chr 9:57,782,304...57,844,573 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO with Egfr mutation RGD PMID:10700187 RGD:734918 NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637 		JBrowse link
G SP7 Sp7 transcription factor severity ISO RGD PMID:23578508 RGD:267010069 NCBI chr11:49,436,976...49,456,741 JBrowse link
G TNF tumor necrosis factor ISO OMIM:109730 | OMIM:614823 MouseDO
G TNFRSF11B TNF receptor superfamily member 11b ISO protein:increased expression:serum RGD PMID:20211333 RGD:7205491 NCBI chr 8:113,520,711...113,549,370
Ensembl chr 8:113,520,596...113,548,936 		JBrowse link
G VDR vitamin D receptor ISO RGD PMID:11359741 RGD:1580365 NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684 		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 chr13:527,361...620,418
Ensembl chr13:457,495...618,858 		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 chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698 		JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:24374105 RGD:11352276 NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 ameliorates ISO RGD PMID:22699504 RGD:155641244 NCBI chr26:42,056,473...42,066,283
Ensembl chr26:42,056,331...42,065,828 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 severity ISO RGD PMID:15120829 RGD:12910476 NCBI chr10:83,003,266...83,017,397
Ensembl chr10:83,003,717...83,017,363 		JBrowse link
G MEIS2 Meis homeobox 2 ISO mRNA,protein:decreased expression:aortic valve: RGD PMID:30594396 RGD:155598679 NCBI chr26:45,844,214...46,054,325 JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16025100 NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585 		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 chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429 		JBrowse link
G PTH parathyroid hormone disease_progression ISO protein:increased expression:serum (rat) RGD PMID:22634235 RGD:7242900 NCBI chr 1:51,327,555...51,330,810 JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 ISO protein:increased expression:aortic valve (human) RGD PMID:35958694 RGD:401976381 NCBI chr 2:13,385,681...13,459,180
Ensembl chr 2:13,387,727...13,459,105 		JBrowse link
G SLC20A1 solute carrier family 20 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr14:15,657,888...15,676,649
Ensembl chr14:15,659,361...15,676,645 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		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 chr23:82,328,257...82,373,785
Ensembl chr23:82,328,258...82,357,044 		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 chr19:32,978,771...32,995,055
Ensembl chr19:32,978,562...32,997,160 		JBrowse link
G SCO2 SCO2, cytochrome c oxidase assembly protein 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 chr19:32,995,153...32,997,249
Ensembl chr19:32,995,196...32,995,996 		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 chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215 		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 chr 1:11,934,352...11,978,355
Ensembl chr 1:11,934,270...11,974,030 		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 chr11:21,658,804...21,797,851
Ensembl chr11:21,658,794...21,797,263 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr16:6,593,288...6,598,980
Ensembl chr16:6,593,287...6,598,979 		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 chr26:48,105,271...48,110,670
Ensembl chr26:48,105,216...48,110,896 		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 chr25:73,827,900...73,904,516
Ensembl chr25:73,827,874...73,905,146 		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 chr 9:84,248,133...84,257,276
Ensembl chr 9:84,247,241...84,257,170 		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 chr 9:112,439,954...112,465,875
Ensembl chr 9:112,439,782...112,466,086 		JBrowse link
G CALM3 calmodulin 3 susceptibility ISO DNA:polymorphism:promoter:¿¿¿34T>A(human) RGD PMID:19429631 RGD:13792494 NCBI chr 6:39,957,012...39,966,562
Ensembl chr 6:39,957,320...39,966,581
Ensembl chr24:39,957,320...39,966,581
Ensembl chr14:39,957,320...39,966,581 		JBrowse link
G CALR3 calreticulin 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr 6:14,987,761...15,007,145
Ensembl chr 6:14,987,230...15,006,857 		JBrowse link
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:14672715 PMID:15580566 NCBI chr22:44,726,597...44,740,456
Ensembl chr22:44,727,624...44,740,459 		JBrowse link
G COMT catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr19:5,775,829...5,803,260
Ensembl chr19:5,773,225...5,785,422 		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 1:103,258,715...103,263,274
Ensembl chr 1:103,257,347...103,261,990 		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 chr 1:45,792,106...45,813,715
Ensembl chr 1:45,803,243...45,813,800 		JBrowse link
G CTNNA3 catenin alpha 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:63,669,561...65,406,737 JBrowse link
G CUNH2orf49 chromosome unknown C2orf49 homolog ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr14:8,970,846...8,982,525
Ensembl chr14:8,971,076...8,978,610 		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 chr10:105,312,348...105,320,869 JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr16:6,562,953...6,592,247
Ensembl chr16:6,562,691...6,590,867 		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:29,543,003...32,218,011 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 chr18:49,596,870...49,637,587
Ensembl chr18:49,599,940...49,639,526 		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 chr18:49,174,539...49,227,519
Ensembl chr18:49,174,409...49,227,347 		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 chr17:64,611,243...64,656,297
Ensembl chr17:64,611,103...64,656,366 		JBrowse link
G DTNA dystrobrevin alpha ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr18:45,855,444...46,253,842
Ensembl chr18:45,856,403...45,991,102 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr  X:128,689,588...128,692,105
Ensembl chr  X:128,689,588...128,692,625 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr13:39,988,427...40,271,862
Ensembl chr13:40,001,261...40,272,592 		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:111,160,389...111,226,713
Ensembl chr  X:111,211,911...111,226,841 		JBrowse link
G FHL2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr14:8,992,881...9,069,432
Ensembl chr14:8,990,861...9,069,227 		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 chr21:97,431,666...97,460,178
Ensembl chr21:97,431,648...97,461,135 		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:89,738,097...89,749,740
Ensembl chr  X:89,737,966...89,750,539 		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 chr15:76,617,122...76,680,508
Ensembl chr15:76,617,441...76,677,713 		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 chr 1:58,214,630...58,221,770
Ensembl chr 1:58,213,310...58,221,217 		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 chr 2:19,626,035...19,703,589
Ensembl chr 2:19,626,832...19,703,765 		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 chr16:64,470,974...64,503,085
Ensembl chr16:64,470,959...64,503,322 		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 chr 2:57,833,459...57,841,052
Ensembl chr 2:57,833,629...57,834,000 		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 chr21:119,123,601...119,156,985
Ensembl chr21:119,124,007...119,156,794 		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 chr13:61,596,940...61,748,359
Ensembl chr13:61,596,905...61,748,022 		JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:28492532
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 9:45,130,015...45,199,585
Ensembl chr 9:45,128,134...45,198,106 		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 chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780 		JBrowse link
G LOC103231119 cardiotrophin-1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:11058912 PMID:24033266 PMID:26084686 PMID:28492532 NCBI chr 5:27,579,175...27,586,779
Ensembl chr 5:27,579,987...27,585,759 		JBrowse link
G LOC103231478 myosin-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... NCBI chr29:23,753,251...23,780,822
Ensembl chr29:23,753,309...23,778,107 		JBrowse link
G LOC103231480 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 chr29:23,783,610...23,804,981
Ensembl chr29:23,783,557...23,799,771 		JBrowse link
G LOC103235292 troponin I, cardiac muscle 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 6:47,746,293...47,752,118
Ensembl chr 6:47,745,386...47,752,204 		JBrowse link
G LOC103235293 dynein assembly factor 3, axonemal ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:47,753,085...47,762,340
Ensembl chr 6:47,753,062...47,762,238 		JBrowse link
G MIB1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr18:58,628,381...58,759,692
Ensembl chr18:58,633,926...58,759,609 		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 chr 1:17,964,581...17,986,351
Ensembl chr 1:17,963,706...17,985,758 		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 chr11:106,154,803...106,164,644
Ensembl chr11:106,155,017...106,164,675 		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 chr22:8,263,536...8,272,229
Ensembl chr22:8,261,206...8,269,185 		JBrowse link
G MYL9 myosin light chain 9 ISO RGD PMID:16076902 RGD:1582589 NCBI chr 2:57,397,836...57,405,856
Ensembl chr 2:57,397,874...57,406,630 		JBrowse link
G MYLK2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 2:36,207,013...36,223,292
Ensembl chr 2:36,207,901...36,223,307 		JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:62,321,086...62,474,955
Ensembl chr18:62,320,793...62,465,485 		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 chr 7:66,615,254...66,666,060
Ensembl chr 7:66,616,084...66,666,263 		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 9:63,173,243...63,279,777
Ensembl chr 9:63,174,804...63,279,133 		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 9:20,620,745...20,999,148 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 chr20:55,229,093...55,286,703
Ensembl chr20:55,234,782...55,285,755 		JBrowse link
G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:14672715 PMID:15580566 NCBI chr22:44,746,108...44,764,501
Ensembl chr22:44,742,419...44,763,243 		JBrowse link
G PDLIM3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr 7:131,443,131...131,477,575
Ensembl chr 7:131,441,674...131,477,554 		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 chr11:32,225,743...32,333,951
Ensembl chr11:32,225,600...32,333,615 		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 chr20:128,249,894...128,613,842 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 chr21:119,738,976...120,058,831
Ensembl chr21:119,738,967...119,970,972 		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 chr22:48,560,270...48,643,537
Ensembl chr22:48,561,161...48,618,020 		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 chr 9:103,583,722...103,775,391
Ensembl chr 9:103,703,569...103,777,934 		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 chr25:74,169,024...74,951,371
Ensembl chr25:74,389,122...74,953,451 		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 chr15:767,854...869,787
Ensembl chr15:794,963...867,457 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:103,857,229...103,954,724
Ensembl chr 9:103,857,218...103,956,602 		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 chr14:68,259,509...68,404,167
Ensembl chr14:68,259,360...68,399,895 		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 chr 1:58,213,261...58,214,658
Ensembl chr 1:58,213,310...58,214,581 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532
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 chr16:66,500,535...66,503,455
Ensembl chr16:66,500,949...66,501,703 		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 chr22:50,068,053...50,085,094
Ensembl chr22:50,068,095...50,086,648 		JBrowse link
G TMPO thymopoietin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr11:93,815,870...93,852,577
Ensembl chr11:93,817,820...93,853,703 		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 6:47,726,049...47,743,465
Ensembl chr 6:47,726,002...47,743,404 		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 chr25:28,035,563...28,054,322
Ensembl chr25:28,040,087...28,054,120 		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 chr26:20,458,287...20,487,387
Ensembl chr26:20,466,037...20,487,135 		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 chr20:106,676,299...106,714,394
Ensembl chr20:106,703,949...106,716,656 		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 chr10:64,074,994...64,379,055
Ensembl chr10:64,076,021...64,347,205 		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 chr18:49,124,302...49,131,495
Ensembl chr18:49,124,121...49,131,399 		JBrowse link
G TXNRD2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr19:5,803,178...5,868,224
Ensembl chr19:5,813,099...5,866,674 		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 chr 9:57,253,219...57,375,947
Ensembl chr 9:57,255,166...57,376,028 		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 chr 6:14,987,761...15,007,145
Ensembl chr 6:14,987,230...15,006,857 		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 chr27:2,407,451...2,662,855
Ensembl chr27:2,408,219...2,662,279 		JBrowse link
Hypertelorism and Tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chr17:70,533,048...70,536,555
Ensembl chr17:70,534,821...70,536,476 		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 chr11:21,658,804...21,797,851
Ensembl chr11:21,658,794...21,797,263 		JBrowse link
G ACACB acetyl-CoA carboxylase beta ISO RGD PMID:31709908 RGD:329901803 NCBI chr11:104,325,250...104,488,567
Ensembl chr11:104,349,573...104,488,003 		JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:myocardium (human) RGD PMID:32448590 RGD:40818260 NCBI chr  X:14,032,231...14,094,163
Ensembl chr  X:14,030,233...14,077,785 		JBrowse link
G ACP2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:18,061,094...18,070,929
Ensembl chr 1:18,060,994...18,072,208 		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 chr26:48,105,271...48,110,670
Ensembl chr26:48,105,216...48,110,896 		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 chr25:73,827,900...73,904,516
Ensembl chr25:73,827,874...73,905,146 		JBrowse link
G ADGRL4 adhesion G protein-coupled receptor L4 ISO protein:decreased expression:heart: RGD PMID:22606234 RGD:13838662 NCBI chr20:54,208,073...54,325,120
Ensembl chr20:54,208,321...54,327,545 		JBrowse link
G ADM adrenomedullin ISO associated with Diabetes Mellitus, Experimental;protein:decreased expression:cardiomyocyte RGD PMID:17355819 RGD:1625294 NCBI chr 1:54,518,359...54,520,683
Ensembl chr 1:54,518,358...54,520,686 		JBrowse link
G AGT angiotensinogen no_association
susceptibility		 ISO DNA:polymorphisms: :p.T174M, p.M235T (human)
DNA:polymorphism:cds:p.M235T(human)		 RGD PMID:9023164 PMID:9270088 RGD:13432163 RGD:1566491 NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324 		JBrowse link
G AHR aryl hydrocarbon receptor ISO RGD PMID:19889059 RGD:401794453 NCBI chr21:40,778,198...40,826,491
Ensembl chr21:40,778,218...40,826,478 		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 chr21:56,889,669...57,061,526
Ensembl chr21:56,890,183...57,061,232 		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 chr29:3,484,483...3,544,016
Ensembl chr29:3,486,947...3,542,798 		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 chr 7:60,487,776...61,174,351
Ensembl chr 7:60,938,523...61,175,519 		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 chr 9:84,248,133...84,257,276
Ensembl chr 9:84,247,241...84,257,170 		JBrowse link
G APH1B aph-1 homolog B, gamma-secretase subunit ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr26:20,236,666...20,265,167
Ensembl chr26:20,240,015...20,265,151 		JBrowse link
G ARFGAP2 ADP ribosylation factor GTPase activating protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:18,136,257...18,161,083
Ensembl chr 1:18,136,519...18,148,228 		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 chr 9:112,439,954...112,465,875
Ensembl chr 9:112,439,782...112,466,086 		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 chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895 		JBrowse link
G BECN1 beclin 1 ISO protein:increased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chr16:63,469,187...63,482,627
Ensembl chr16:63,469,192...63,485,322 		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 chr21:109,495,525...109,690,261 JBrowse link
G C2CD4A C2 calcium dependent domain containing 4A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr26:21,453,198...21,458,225
Ensembl chr26:21,455,439...21,456,554 		JBrowse link
G C2CD4B C2 calcium dependent domain containing 4B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr26:21,359,297...21,361,910
Ensembl chr26:21,360,448...21,361,542 		JBrowse link
G CA12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr26:20,162,706...20,221,680
Ensembl chr26:20,162,926...20,224,502 		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 chr11:2,107,722...2,753,970
Ensembl chr11:2,508,705...2,752,991 		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 9:18,075,436...18,470,985
Ensembl chr 9:18,332,165...18,469,617 		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 chr 6:14,987,761...15,007,145
Ensembl chr 6:14,987,230...15,006,857 		JBrowse link
G CAPN2 calpain 2 ISO protein:increased expression, activity:nucleus RGD PMID:25820375 RGD:13792650 NCBI chr25:5,845,873...5,905,464
Ensembl chr25:5,846,298...5,905,402 		JBrowse link
G CASP3 caspase 3 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:18192848 RGD:2293330 NCBI chr 7:130,589,592...130,610,845
Ensembl chr 7:130,591,166...130,610,899 		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 chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756 		JBrowse link
G CAV1 caveolin 1 ISO MouseDO NCBI chr21:85,222,724...85,258,562
Ensembl chr21:85,222,879...85,258,627 		JBrowse link
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr22:44,726,597...44,740,456
Ensembl chr22:44,727,624...44,740,459 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO mRNA:increased expression:heart RGD PMID:19189074 RGD:2307222 NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669 		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 chr22:10,046,361...10,073,689
Ensembl chr22:10,045,900...10,072,395 		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 chr13:55,203,782...55,420,819
Ensembl chr13:55,225,893...55,420,795 		JBrowse link
G CMA1 chymase 1 susceptibility ISO DNA:snp:5' utr:g.-1903G>A rs1800875 (human) RGD PMID:8759823 RGD:5128572 NCBI chr24:1,471,767...1,475,062
Ensembl chr24:1,471,725...1,474,692 		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 chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G COX15 COX15, cytochrome c oxidase assembly homolog ISO RGD PMID:12474143 RGD:1598468 NCBI chr 9:92,739,137...92,797,190
Ensembl chr 9:92,779,573...92,796,943 		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 1:103,258,715...103,263,274
Ensembl chr 1:103,257,347...103,261,990 		JBrowse link
G CS citrate synthase ISO RGD PMID:10354207 RGD:243048483 NCBI chr11:52,224,667...52,253,552
Ensembl chr11:52,222,724...52,253,307 		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 chr 1:45,792,106...45,813,715
Ensembl chr 1:45,803,243...45,813,800 		JBrowse link
G CSTPP1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:18,148,254...18,374,291
Ensembl chr 1:18,150,732...18,374,254 		JBrowse link
G CTNNB1 catenin beta 1 treatment ISO protein:increased phosphorylation:myocyte: RGD PMID:14993121 RGD:1598718 NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949 		JBrowse link
G CTSL cathepsin L ISO RGD PMID:19096818 RGD:2315555 NCBI chr12:98,347,770...98,353,426
Ensembl chr12:98,347,800...98,353,467 		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 chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384 		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 chr14:69,318,713...69,327,277
Ensembl chr14:69,319,495...69,324,157 		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 chr26:53,390,054...53,403,309
Ensembl chr26:53,390,089...53,404,211 		JBrowse link
G DDB2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:18,071,011...18,096,660
Ensembl chr 1:18,071,383...18,096,595 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:32528171 NCBI chr10:105,312,348...105,320,869 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:29,543,003...32,218,011 JBrowse link
G DNMT1 DNA methyltransferase 1 ISO protein:increased expression:cardiac muscle tissue of interventricular septum (human) RGD PMID:32051532 RGD:126925233 NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607 		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 chr18:49,596,870...49,637,587
Ensembl chr18:49,599,940...49,639,526 		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 chr18:49,174,539...49,227,519
Ensembl chr18:49,174,409...49,227,347 		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 chr17:64,611,243...64,656,297
Ensembl chr17:64,611,103...64,656,366 		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 chr18:45,855,444...46,253,842
Ensembl chr18:45,856,403...45,991,102 		JBrowse link
G EDN1 endothelin 1 ISO associated with Diabetes Mellitus, Experimental; protein:increased secretion:serum (rat) RGD PMID:19000375 RGD:2302065 NCBI chr17:59,854,186...59,861,319
Ensembl chr17:59,853,699...59,861,198 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr  X:128,689,588...128,692,105
Ensembl chr  X:128,689,588...128,692,625 		JBrowse link
G EMILIN2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr18:62,110,324...62,171,066
Ensembl chr18:62,110,616...62,170,384 		JBrowse link
G EPHX2 epoxide hydrolase 2 ISO mRNA, protein:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chr 8:25,603,668...25,659,232
Ensembl chr 8:25,603,735...25,659,345 		JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:105,214,231...105,252,100
Ensembl chr 7:105,213,653...105,254,502 		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 chr13:39,988,427...40,271,862
Ensembl chr13:40,001,261...40,272,592 		JBrowse link
G FASN fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr16:73,988,410...74,008,374
Ensembl chr16:73,982,899...74,006,551 		JBrowse link
G FBXL22 F-box and leucine rich repeat protein 22 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr26:19,937,405...19,944,579 JBrowse link
G FHL1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr  X:111,160,389...111,226,713
Ensembl chr  X:111,211,911...111,226,841 		JBrowse link
G FHOD3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr18:44,053,360...44,540,820
Ensembl chr18:44,049,837...44,540,760 		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 6:40,100,399...40,128,340
Ensembl chr 6:40,126,321...40,127,808 		JBrowse link
G FKTN fukutin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18414213 PMID:22037554 PMID:25741868 PMID:28492532 NCBI chr12:33,872,165...33,964,105
Ensembl chr12:33,900,362...33,953,377 		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 chr21:97,431,666...97,460,178
Ensembl chr21:97,431,648...97,461,135 		JBrowse link
G FXN frataxin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15936968 PMID:25741868 NCBI chr12:80,133,899...80,173,950
Ensembl chr12:80,134,422...80,173,168 		JBrowse link
G GAA alpha glucosidase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22644586 PMID:25741868 PMID:28492532 NCBI chr16:72,064,315...72,083,293
Ensembl chr16:72,067,267...72,083,349 		JBrowse link
G GJA5 gap junction protein alpha 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
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:89,738,097...89,749,740
Ensembl chr  X:89,737,966...89,750,539 		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 chr15:76,617,122...76,680,508
Ensembl chr15:76,617,441...76,677,713 		JBrowse link
G GPR149 G protein-coupled receptor 149 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr15:36,286,777...36,376,765
Ensembl chr15:36,287,701...36,374,008 		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 chr 6:15,844,678...15,847,517 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 chr26:10,107,342...10,158,885
Ensembl chr26:10,110,579...10,156,292 		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 chr26:19,713,780...19,930,807
Ensembl chr26:19,713,617...19,930,937 		JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20001863 NCBI chr13:47,965,808...47,977,435
Ensembl chr13:47,964,847...47,977,346 		JBrowse link
G HMOX1 heme oxygenase 1 ISO protein:increased activity:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr28:10,442,530...10,443,804
Ensembl chr28:10,442,398...10,443,855 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr10:83,003,266...83,017,397
Ensembl chr10:83,003,717...83,017,363 		JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B ISO MouseDO NCBI chr10:117,132,919...117,152,132
Ensembl chr10:117,133,195...117,149,681 		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 chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263 		JBrowse link
G IGF1 insulin like growth factor 1 severity ISO RGD PMID:12135130 RGD:1598422 NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308 		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 chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930 		JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8660453 NCBI chr 1:1,965,128...1,969,090 JBrowse link
G IRF9 interferon regulatory factor 9 ameliorates
exacerbates		 ISO RGD PMID:24144649 RGD:125093743 NCBI chr24:1,146,116...1,151,622
Ensembl chr24:1,146,618...1,151,546 		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 chr 2:19,626,035...19,703,589
Ensembl chr 2:19,626,832...19,703,765 		JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:64,470,974...64,503,085
Ensembl chr16:64,470,959...64,503,322 		JBrowse link
G KAT8 lysine acetyltransferase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27768893 NCBI chr 5:27,806,082...27,820,832
Ensembl chr 5:27,805,844...27,820,748 		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 chr 2:78,500,755...78,557,275
Ensembl chr 2:78,503,317...78,503,757 		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 chr 2:57,833,459...57,841,052
Ensembl chr 2:57,833,629...57,834,000 		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 chr21:119,123,601...119,156,985
Ensembl chr21:119,124,007...119,156,794 		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 chr16:51,448,821...51,461,801
Ensembl chr16:51,452,567...51,453,850 		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 1:120,025,238...120,098,006
Ensembl chr 1:120,025,300...120,057,023 		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 chr11:21,624,963...21,634,940
Ensembl chr11:21,624,970...21,634,042 		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 chr 1:2,261,448...2,661,840
Ensembl chr 1:2,261,845...2,661,863 		JBrowse link
G KLHL24 kelch like family member 24 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr15:5,732,347...5,780,154
Ensembl chr15:5,732,928...5,780,143 		JBrowse link
G KLHL41 kelch like family member 41 ISO RGD PMID:11583900 RGD:1580798 NCBI chr10:55,023,978...55,044,196 JBrowse link
G LACTB lactamase beta ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr26:20,399,882...20,419,422
Ensembl chr26:20,399,858...20,419,369 		JBrowse link
G LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr13:44,074,128...44,688,187
Ensembl chr13:44,073,525...44,531,889 		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 chr13:61,596,940...61,748,359
Ensembl chr13:61,596,905...61,748,022 		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...
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 9:45,130,015...45,199,585
Ensembl chr 9:45,128,134...45,198,106 		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 chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780 		JBrowse link
G LOC103222703 myosin regulatory light chain 12A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr18:62,496,372...62,504,835
Ensembl chr18:62,501,879...62,505,937 		JBrowse link
G LOC103231119 cardiotrophin-1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:27,579,175...27,586,779
Ensembl chr 5:27,579,987...27,585,759 		JBrowse link
G LOC103231165 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657 		JBrowse link
G LOC103231478 myosin-6 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15998695 PMID:20656787 PMID:22011241 PMID:23861362 PMID:24033266 More... NCBI chr29:23,753,251...23,780,822
Ensembl chr29:23,753,309...23,778,107 		JBrowse link
G LOC103231480 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 chr29:23,783,610...23,804,981
Ensembl chr29:23,783,557...23,799,771 		JBrowse link
G LOC103235292 troponin I, cardiac muscle ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:3144325 PMID:3349559 PMID:7592712 PMID:9241277 PMID:9536098 More... NCBI chr 6:47,746,293...47,752,118
Ensembl chr 6:47,745,386...47,752,204 		JBrowse link
G LOC103235293 dynein assembly factor 3, axonemal ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:47,753,085...47,762,340
Ensembl chr 6:47,753,062...47,762,238 		JBrowse link
G LOC103242912 nucleoside diphosphate kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr16:42,186,039...42,195,608
Ensembl chr16:42,185,260...42,195,616 		JBrowse link
G LPIN2 lipin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr18:62,152,837...62,265,992
Ensembl chr18:62,177,246...62,236,593 		JBrowse link
G LRP4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:18,393,489...18,474,514
Ensembl chr 1:18,413,513...18,471,444 		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 chr19:4,917,381...4,935,174
Ensembl chr19:4,918,360...4,933,439 		JBrowse link
G MADD MAP kinase activating death domain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:17,987,573...18,041,317
Ensembl chr 1:17,986,860...18,042,266 		JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO protein:increased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chr 2:38,857,235...38,858,955
Ensembl chr 2:38,857,299...38,858,505 		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 chr 6:3,848,441...3,881,367
Ensembl chr 6:3,848,401...3,881,412 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 treatment ISO protein:increased phosphorylation:heart (human) RGD PMID:27249171 RGD:155646134 NCBI chr13:15,284,927...15,360,539
Ensembl chr13:15,284,923...15,360,832 		JBrowse link
G MASP1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr15:81,488,306...81,563,302
Ensembl chr15:81,488,099...81,563,679 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:12952838 RGD:1582538 NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:plasma RGD PMID:18585501 RGD:5130889 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:plasma RGD PMID:18585501 RGD:5130889 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G MTPN myotrophin ISO MouseDO NCBI chr21:104,605,924...104,657,664
Ensembl chr21:104,605,592...104,657,866 		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 chr 1:17,964,581...17,986,351
Ensembl chr 1:17,963,706...17,985,758 		JBrowse link
G MYBPHL myosin binding protein H like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr20:24,241,153...24,256,042
Ensembl chr20:24,241,758...24,253,001 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000973 NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384 		JBrowse link
G MYH7B myosin heavy chain 7B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 2:39,258,541...39,304,569
Ensembl chr 2:39,287,302...39,305,798 		JBrowse link
G MYL12B myosin light chain 12B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr18:62,510,012...62,527,027
Ensembl chr18:62,521,295...62,529,131 		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 chr11:106,154,803...106,164,644
Ensembl chr11:106,155,017...106,164,675 		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 chr22:8,263,536...8,272,229
Ensembl chr22:8,261,206...8,269,185 		JBrowse link
G MYL4 myosin light chain 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr16:59,457,500...59,497,705 JBrowse link
G MYL7 myosin light chain 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr21:14,526,045...14,528,498
Ensembl chr21:14,525,637...14,528,513 		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 chr 2:36,207,013...36,223,292
Ensembl chr 2:36,207,901...36,223,307 		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 chr18:62,321,086...62,474,955
Ensembl chr18:62,320,793...62,465,485 		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 chr 7:66,615,254...66,666,060
Ensembl chr 7:66,616,084...66,666,263 		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 9:63,173,243...63,279,777
Ensembl chr 9:63,174,804...63,279,133 		JBrowse link
G NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:32722639 NCBI chr 6:17,976,099...17,990,154 JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr10:91,893,337...91,927,559
Ensembl chr10:91,893,616...91,927,592 		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 chr20:2,767,864...2,780,336
Ensembl chr20:2,768,064...2,780,704 		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 9:20,620,745...20,999,148 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 chr20:55,229,093...55,286,703
Ensembl chr20:55,234,782...55,285,755 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr23:75,391,833...75,399,003
Ensembl chr23:75,391,847...75,395,205 		JBrowse link
G NMNAT2 nicotinamide nucleotide adenylyltransferase 2 ISO protein:decreased expression, decreased activity:heart RGD PMID:22449973 RGD:13782043 NCBI chr25:45,954,934...46,130,106
Ensembl chr25:45,954,862...46,125,378 		JBrowse link
G NPM1 nucleophosmin 1 ISO protein:increased expression:cardiomyocyte: RGD PMID:21444791 RGD:11535018 NCBI chr23:73,555,020...73,575,910
Ensembl chr23:73,555,260...73,575,925 		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 chr20:119,942,412...119,946,211
Ensembl chr20:119,944,532...119,945,917 		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 chr20:119,930,931...119,933,391
Ensembl chr20:119,932,021...119,933,197 		JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:18,041,495...18,061,196
Ensembl chr 1:18,041,830...18,051,501 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr27:46,787,325...46,896,898
Ensembl chr27:46,787,154...46,867,792 		JBrowse link
G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr22:44,746,108...44,764,501
Ensembl chr22:44,742,419...44,763,243 		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 chr 1:18,125,207...18,135,866
Ensembl chr 1:18,130,727...18,135,454 		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 chr 7:131,443,131...131,477,575
Ensembl chr 7:131,441,674...131,477,554 		JBrowse link
G PEPD peptidase D ISO MouseDO NCBI chr 6:28,427,940...28,562,554
Ensembl chr 6:28,427,912...28,553,316 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO MouseDO NCBI chr 5:1,985,165...2,031,518
Ensembl chr 5:1,983,632...2,015,551 		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 chr11:32,225,743...32,333,951
Ensembl chr11:32,225,600...32,333,615 		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 chr13:55,316,962...55,332,502
Ensembl chr13:55,318,326...55,318,481 		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 chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2536513 PMID:2831920 PMID:2853496 PMID:8381257 PMID:8928979 NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447 		JBrowse link
G PPP6R1 protein phosphatase 6 regulatory subunit 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 6:47,827,766...47,847,945 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 chr21:119,738,976...120,058,831
Ensembl chr21:119,738,967...119,970,972 		JBrowse link
G PSMC3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:17,881,844...17,896,942 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 chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637 		JBrowse link
G PTPRH protein tyrosine phosphatase receptor type H ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 6:47,776,907...47,809,359
Ensembl chr 6:47,777,454...47,808,507 		JBrowse link
G RAB8B RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr26:20,275,555...20,354,298
Ensembl chr26:20,275,258...20,354,202 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17603482 PMID:17603483 NCBI chr22:48,560,270...48,643,537
Ensembl chr22:48,561,161...48,618,020 		JBrowse link
G RAPSN receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:17,867,721...17,887,162
Ensembl chr 1:17,868,888...17,887,164 		JBrowse link
G RASSF1 Ras association domain family member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19652091 NCBI chr22:11,716,969...11,728,646
Ensembl chr22:11,716,918...11,725,027 		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 chr 9:103,583,722...103,775,391
Ensembl chr 9:103,703,569...103,777,934 		JBrowse link
G RETN resistin ISO DNA, protein:SNP, increased expression:promoter, serum:-420G>C (rs1862513) (human) RGD PMID:20171599 RGD:7207251 NCBI chr 6:7,154,771...7,156,459
Ensembl chr 6:7,155,337...7,156,505 		JBrowse link
G RNF123 ring finger protein 123 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr22:11,084,216...11,116,527
Ensembl chr22:11,085,808...11,116,287 		JBrowse link
G RPS27L ribosomal protein S27 like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr26:20,385,684...20,389,351 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 chr25:74,169,024...74,951,371
Ensembl chr25:74,389,122...74,953,451 		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 chr15:767,854...869,787
Ensembl chr15:794,963...867,457 		JBrowse link
G SCO2 SCO2, cytochrome c oxidase assembly protein ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10749987 PMID:11027508 PMID:14970747 RGD:1580020 NCBI chr19:32,995,153...32,997,249
Ensembl chr19:32,995,196...32,995,996 		JBrowse link
G SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr16:43,160,402...43,173,368
Ensembl chr16:43,160,401...43,170,109 		JBrowse link
G SGCB sarcoglycan beta ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:16,400,865...16,418,955
Ensembl chr 7:16,405,641...16,415,727 		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 chr 7:131,102,077...131,106,076 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 4:65,190,394...65,227,480
Ensembl chr 4:65,190,499...65,229,027 		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 chr 1:17,899,349...17,907,165
Ensembl chr 1:17,899,030...17,905,850 		JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19111554 NCBI chr20:105,613,289...105,670,868
Ensembl chr20:105,613,338...105,674,208 		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 chr18:61,921,477...62,069,187
Ensembl chr18:61,921,124...62,070,878 		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 chr14:68,259,509...68,404,167
Ensembl chr14:68,259,360...68,399,895 		JBrowse link
G SPI1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19574547 PMID:28492532 PMID:30924982 NCBI chr 1:17,935,037...17,961,638
Ensembl chr 1:17,935,922...17,961,717 		JBrowse link
G SYT5 synaptotagmin 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532
G TBCA tubulin folding cofactor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr 4:71,921,187...72,004,619 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 chr16:66,500,535...66,503,455
Ensembl chr16:66,500,949...66,501,703 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO RGD PMID:22134166 RGD:11073617 NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365 		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 chr24:53,203,593...53,227,483
Ensembl chr24:53,203,301...53,227,325 		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 chr18:62,691,705...62,698,265 JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:15056834 RGD:1580653 NCBI chr16:70,819,591...70,850,471
Ensembl chr16:70,819,139...70,850,471 		JBrowse link
G TLN2 talin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr26:20,688,048...21,140,585
Ensembl chr26:20,691,779...20,940,450 		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 chr22:50,068,053...50,085,094
Ensembl chr22:50,068,095...50,086,648 		JBrowse link
G TMEM86B transmembrane protein 86B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 6:47,824,726...47,827,670
Ensembl chr 6:47,825,168...47,826,726 		JBrowse link
G TMPO thymopoietin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31983221 NCBI chr11:93,815,870...93,852,577
Ensembl chr11:93,817,820...93,853,703 		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 chr22:13,816,603...13,819,572
Ensembl chr22:13,816,222...13,819,518 		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 6:47,726,049...47,743,465
Ensembl chr 6:47,726,002...47,743,404 		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 chr25:28,035,563...28,054,322
Ensembl chr25:28,040,087...28,054,120 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000973 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		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 chr26:20,458,287...20,487,387
Ensembl chr26:20,466,037...20,487,135 		JBrowse link
G TRAF6 TNF receptor associated factor 6 treatment ISO protein:increased expression:heart (human) RGD PMID:27249171 RGD:155646134 NCBI chr 1:28,726,357...28,752,389
Ensembl chr 1:28,734,380...28,747,092 		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 chr20:106,676,299...106,714,394
Ensembl chr20:106,703,949...106,716,656 		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 6:42,379,534...42,424,721
Ensembl chr 6:42,379,659...42,424,146 		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 chr10:64,074,994...64,379,055
Ensembl chr10:64,076,021...64,347,205 		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 chr18:49,124,302...49,131,495
Ensembl chr18:49,124,121...49,131,399 		JBrowse link
G UCN urocortin ISO RGD PMID:14577573 RGD:1580792 NCBI chr14:80,303,210...80,304,910
Ensembl chr14:80,304,416...80,304,790 		JBrowse link
G UQCRC1 ubiquinol-cytochrome c reductase core protein I ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr22:10,000,432...10,012,524
Ensembl chr22:10,000,864...10,012,202 		JBrowse link
G USP3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr26:19,947,806...20,030,515
Ensembl chr26:19,948,453...19,992,638 		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 9:57,253,219...57,375,947
Ensembl chr 9:57,255,166...57,376,028 		JBrowse link
G VPS13C vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr26:21,463,393...21,647,944
Ensembl chr26:21,463,657...21,648,603 		JBrowse link
G XIRP1 xin actin binding repeat containing 1 ISO MouseDO NCBI chr15:221,365...232,284 JBrowse link
G YY1 YY1 transcription factor ISO RGD PMID:12754214 RGD:1580831 NCBI chr24:78,199,172...78,243,081
Ensembl chr24:78,199,039...78,237,165 		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 chr26:48,105,271...48,110,670
Ensembl chr26:48,105,216...48,110,896 		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 chr25:73,827,900...73,904,516
Ensembl chr25:73,827,874...73,905,146 		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 chr 9:84,248,133...84,257,276
Ensembl chr 9:84,247,241...84,257,170 		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 chr 9:112,439,954...112,465,875
Ensembl chr 9:112,439,782...112,466,086 		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 chr11:2,107,722...2,753,970
Ensembl chr11:2,508,705...2,752,991 		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 chr 6:14,987,761...15,007,145
Ensembl chr 6:14,987,230...15,006,857 		JBrowse link