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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: Left Ventricular Outflow Obstruction;   Right Ventricular Outflow Obstruction;   Ventricular Outflow Obstructions
 primary_id: MESH:D014694;   RDO:0004881
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 chr17:56,905,419...56,909,675
Ensembl chr17:56,905,112...56,909,992
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8660453 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985
JBrowse link
G Apob apolipoprotein B ISO RGD PMID:11903341 RGD:1578425 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Bambi BMP and activin membrane-bound inhibitor ISO protein:increased expression:myocardium: RGD PMID:23168040 RGD:14390160 NCBI chr17:56,905,419...56,909,675
Ensembl chr17:56,905,112...56,909,992
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Aortic stenosis ClinVar PMID:16826531, PMID:22167768, PMID:24038971, PMID:25608830, PMID:25741868, PMID:25957469, PMID:26752647, PMID:27245440, PMID:30311386 NCBI chr 9:94,302,218...94,308,591 JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:10700187 RGD:734918 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Egr1 early growth response 1 ISO protein:increased expression:aortic valve cusp RGD PMID:15597579 RGD:1626496 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Eln elastin ISO RGD PMID:11175284 RGD:1580327 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Eno3 enolase 3 IEP mRNA:decreased expression:cardiac muscle cell RGD PMID:8594891 RGD:2301765 NCBI chr10:57,278,271...57,283,661
Ensembl chr10:57,278,307...57,283,653
JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:15533858 RGD:1580704 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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 chr17:20,183,440...20,365,219
Ensembl chr17:20,184,245...20,364,714
JBrowse link
G Lgals3 galectin 3 ISO RGD PMID:15520318 RGD:9685214 NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:15780799 RGD:1582522 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Nppc natriuretic peptide C IEP mRNA:decreased expression:aortic valve RGD PMID:17709640 RGD:1642267 NCBI chr 9:93,731,436...93,735,636
Ensembl chr 9:93,731,436...93,735,636
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:71,540,870...71,585,906
Ensembl chr  X:71,528,988...71,585,908
JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO RGD PMID:15533858 RGD:1580704 NCBI chr15:4,209,702...4,236,895
Ensembl chr15:4,209,703...4,236,895
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO with Egfr mutation RGD PMID:10700187 RGD:734918 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Tnf tumor necrosis factor ISS OMIM:109730 | OMIM:614823 MouseDO NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO protein:increased expression:serum RGD PMID:20211333 RGD:7205491 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:11359741 RGD:1580365 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Aortic Valve, Calcification of 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 chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Cd40lg CD40 ligand treatment IDA RGD PMID:24374105 RGD:11352276 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF ClinVar NCBI chr 3:175,701,278...175,709,465
Ensembl chr 3:175,701,280...175,709,465
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 severity ISO RGD PMID:15120829 RGD:12910476 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF
ClinVar Annotator: match by term: AORTIC STENOSIS, CALCIFIC
CTD
ClinVar
PMID:16025100, PMID:16729972, PMID:18593716, PMID:24113472, PMID:24728327, PMID:25326637, PMID:25587027, PMID:25741868, PMID:26188975, PMID:26708639, PMID:26820064, PMID:27760138, PMID:28492532, PMID:29907982 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells RGD PMID:25722432, PMID:25722432 RGD:13207434, RGD:13207434 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Pth parathyroid hormone disease_progression IEP protein:increased expression:serum (rat) RGD PMID:22634235 RGD:7242900 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Slc20a1 solute carrier family 20 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr 3:121,725,204...121,739,160
Ensembl chr 3:121,725,859...121,739,173
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF ClinVar PMID:28492532, PMID:30796334 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF ClinVar NCBI chr 8:25,849,394...25,904,570
Ensembl chr 8:25,850,962...25,904,570
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
Apical Hypertrophic Cardiomyopathy and Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy ClinVar PMID:21686774 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy OMIM
ClinVar
PMID:21686774 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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: Deafness, autosomal dominant 22
ClinVar Annotator: match by OMIM:606346
OMIM
ClinVar
PMID:11167014, PMID:11468689, PMID:12687499, PMID:15123708, PMID:18212818, PMID:18348273, PMID:24033266, PMID:25741868, PMID:26445815, PMID:26467025, PMID:28492532 NCBI chr 8:87,583,649...87,731,271
Ensembl chr 8:87,630,916...87,731,269
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:28991257, PMID:30232381 NCBI chr10:35,078,782...35,120,296
Ensembl chr10:35,078,726...35,121,599
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: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar PMID:10966831, PMID:12860912, PMID:14729850, PMID:15058760, PMID:16267253, PMID:16611632, PMID:17611253, PMID:17623677, PMID:17916152, PMID:17947298, PMID:18379140, PMID:18400036, PMID:18506004, PMID:18519860, PMID:18801786, PMID:19184181, PMID:19467449, PMID:19799913, PMID:20497191, PMID:20965760, PMID:21297463, PMID:21524215, PMID:21551322, PMID:21622575, PMID:24033266, PMID:24736382, PMID:25741868, PMID:28492532 NCBI chr 3:105,507,403...105,512,939
Ensembl chr 3:105,507,403...105,512,939
JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:14567970, PMID:20022194, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25611685, PMID:25626705, PMID:25741868, PMID:26899768, PMID:27532257, PMID:27896284, PMID:28301460, PMID:28492532, PMID:28790153, PMID:28986455, PMID:29247119, PMID:30311386, PMID:30615648, PMID:30775854, PMID:31333075, PMID:31568572 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:19525294, PMID:23299917, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:28492532 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
G Calm3 calmodulin 3 susceptibility ISO DNA:polymorphism:promoter:¿¿¿34T>A(human) RGD PMID:19429631 RGD:13792494 NCBI chr 1:78,844,520...78,851,628
Ensembl chr 1:78,843,080...78,851,719
JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr16:19,097,391...19,124,062
Ensembl chr16:19,097,391...19,124,062
JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:14672715, PMID:15580566 NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:1560021, PMID:16483541, PMID:16793013, PMID:17116488, PMID:20171888, PMID:21920752, PMID:22106715, PMID:22995991, PMID:23194663, PMID:23299917, PMID:24033266, PMID:25208129, PMID:25741868, PMID:26694549, PMID:26961874, PMID:28492532 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:16352453, PMID:24033266, PMID:25741868, PMID:27532257, PMID:28492532 NCBI chr 1:104,147,205...104,166,389
Ensembl chr 1:104,147,206...104,166,367
JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:11058912, PMID:24033266, PMID:28492532 NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
JBrowse link
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:28492532 NCBI chr20:25,063,124...26,640,428
Ensembl chr20:26,516,836...26,589,209
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:17221859, PMID:18653338, PMID:19151983, PMID:20171226, PMID:20423733, PMID:20448486, PMID:22106715, PMID:22153487, PMID:22403400, PMID:23349452, PMID:24033266, PMID:25557463, PMID:26467025, PMID:27854218, PMID:28492532 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:7971964, PMID:17033975, PMID:20031616, PMID:20031617, PMID:20197793, PMID:20400443, PMID:20716751, PMID:20829228, PMID:21062920, PMID:21606390, PMID:21606396, PMID:21859740, PMID:23299917, PMID:23757202, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24967631, PMID:25351510, PMID:25447171, PMID:25637381, PMID:25741868, PMID:28255936, PMID:28492532 NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:17105751, PMID:18678517, PMID:19039334, PMID:20031616, PMID:20031617, PMID:20716751, PMID:20864495, PMID:21606390, PMID:21606396, PMID:23810883, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25741868, PMID:28492532 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
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, PMID:23911551, PMID:24033266, PMID:24125834, PMID:24503780, PMID:24704780, PMID:25225338, PMID:25351510, PMID:25693453, PMID:25741868, PMID:26585738, PMID:28492532, PMID:30354334 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:28492532 NCBI chr18:14,544,725...14,671,514
Ensembl chr18:14,471,213...14,657,332
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr  X:156,452,847...156,455,858
Ensembl chr  X:156,452,818...156,456,035
JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr 1:23,237,617...23,611,580
Ensembl chr 1:23,409,408...23,610,164
JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:18179888, PMID:18274675, PMID:18952429, PMID:19181672, PMID:19687455, PMID:19716112, PMID:25246303, PMID:26857240, PMID:26933038, PMID:28444561, PMID:28492532 NCBI chr  X:159,112,516...159,172,528
Ensembl chr  X:159,112,880...159,172,524
JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr 9:49,920,611...49,994,906
Ensembl chr 9:49,920,854...49,950,093
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC ClinVar PMID:25741868, PMID:28492532 NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:2171331, PMID:8738659, PMID:9100224, PMID:9395081, PMID:9883849, PMID:10208848, PMID:10838196, PMID:10916280, PMID:11322659, PMID:11668641, PMID:11688386, PMID:12428061, PMID:15702404, PMID:15806320, PMID:16533976, PMID:16595074, PMID:16773563, PMID:17040996, PMID:17532296, PMID:17804462, PMID:18154965, PMID:18596132, PMID:20031620, PMID:20360539, PMID:20505683, PMID:21549080, PMID:21598360, PMID:22241068, PMID:22805550, PMID:23219219, PMID:23378663, PMID:23430526, PMID:23935525, PMID:24033266, PMID:24082139, PMID:24380807, PMID:24386359, PMID:24784157, PMID:25040344, PMID:25382311, PMID:25741868, PMID:27142856, PMID:27356758, PMID:27560961, PMID:27979989, PMID:28492532, PMID:28799081, PMID:29867742, PMID:29982630 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
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, PMID:23465283, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24715918, PMID:25741868, PMID:25998140, PMID:28492532, PMID:28837624 NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
JBrowse link
G Ilk integrin-linked kinase ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:29915097 NCBI chr 1:170,578,941...170,585,192
Ensembl chr 1:170,578,889...170,585,189
JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:159,709,998...159,776,536
Ensembl chr 3:159,712,325...159,775,643
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:21859740, PMID:23861362, PMID:24033266, PMID:25741868, PMID:27662471, PMID:28492532, PMID:28831623, PMID:30311386 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
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:22581653, PMID:24681347, PMID:25741868, PMID:28492532 NCBI chr11:32,434,786...32,447,264
Ensembl chr11:32,440,237...32,447,259
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:22581653, PMID:24606995, PMID:25417810, PMID:25741868, PMID:28492532 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar PMID:24033266 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:25741868, PMID:28492532, PMID:29247119, PMID:30311386, PMID:31333075, PMID:31568572 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:8621584, PMID:12057196, PMID:16407522, PMID:16585054, PMID:18414213, PMID:18714801, PMID:19589617, PMID:20627339, PMID:21535365, PMID:22071332, PMID:23142632, PMID:24033266, PMID:24375749, PMID:24503780, PMID:24846508, PMID:25525159, PMID:25741868, PMID:27532257, PMID:28492532, PMID:28518168, PMID:28663758, PMID:28679633, PMID:29095976, PMID:29237690, PMID:31333075, PMID:31568572 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr18:1,970,914...2,094,920
Ensembl chr18:1,970,914...2,094,920
JBrowse link
G Mybpc3 myosin binding protein C3 ISO DNA:nonsense mutations: :multiple
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
DNA:nonsense mutation, splice-site mutation, deletion:exon, intron:multiple
DNA:missense mutations: :p.V771M, p.V342D, p.A627V (human)
DNA:missense mutations, nonsense mutations: :multiple
ClinVar
CTD
PMID:1853307, PMID:2073894, PMID:2943217, PMID:7493025, PMID:7493026, PMID:9048664, PMID:9241277, PMID:9503187, PMID:9562578, PMID:9631872, PMID:9742053, PMID:10521296, PMID:10610770, PMID:10736283, PMID:11499718, PMID:11499719, PMID:11748309, PMID:11815426, PMID:11847170, PMID:12110947, PMID:12117842, PMID:12202917, PMID:12386147, PMID:12403824, PMID:12566107, PMID:12628722, PMID:12707239, PMID:12818575, PMID:12951062, PMID:12974739, PMID:14563344, PMID:15010274, PMID:15114369, PMID:15115610, PMID:15166115, PMID:15519027, PMID:15563892, PMID:15769446, PMID:15823648, PMID:15936968, PMID:16004897, PMID:16181148, PMID:16199542, PMID:16267253, PMID:16335287, PMID:16566405, PMID:16651346, PMID:16679492, PMID:16715312, PMID:16754800, PMID:16831826, PMID:16858239, PMID:17081393, PMID:17560888, PMID:17908752, PMID:18258667, PMID:18374358, PMID:18403758, PMID:18409188, PMID:18414213, PMID:18533079, PMID:18713777, PMID:18761664, PMID:18809796, PMID:18926831, PMID:18929575, PMID:18957093, PMID:19035361, PMID:19150014, PMID:19273718, PMID:19293840, PMID:19356534, PMID:19574547, PMID:19590044, PMID:19659763, PMID:19808356, PMID:19996403, PMID:20019025, PMID:20031602, PMID:20031618, PMID:20045868, PMID:20051424, PMID:20128375, PMID:20159828, PMID:20173211, PMID:20215591, PMID:20359594, PMID:20378854, PMID:20414521, PMID:20433692, PMID:20435227, PMID:20439259, PMID:20474083, PMID:20505798, PMID:20530761, PMID:20624503, PMID:20738943, PMID:20800588, PMID:20818890, PMID:20864638, PMID:21088121, PMID:21185001, PMID:21239446, PMID:21252143, PMID:21297165, PMID:21302287, PMID:21310275, PMID:21415409, PMID:21424860, PMID:21472310, PMID:21488259, PMID:21488307, PMID:21499742, PMID:21511876, PMID:21551322, PMID:21638988, PMID:21750094, PMID:21817903, PMID:21832025, PMID:21832052, PMID:21835320, PMID:21839045, PMID:21943931, PMID:21959974, PMID:21985754, PMID:22057632, PMID:22115648, PMID:22177269, PMID:22194935, PMID:22267749, PMID:22337857, PMID:22361390, PMID:22386539, PMID:22429680, PMID:22455086, PMID:22462493, PMID:22464770, PMID:22555271, PMID:22560514, PMID:22563033, PMID:22569109, PMID:22574137, PMID:22589294, PMID:22763267, PMID:22765922, PMID:22857948, PMID:22907696, PMID:22958901, PMID:22995991, PMID:23054336, PMID:23074333, PMID:23140321, PMID:23164068, PMID:23197398, PMID:23217326, PMID:23233322, PMID:23283745, PMID:23299917, PMID:23348723, PMID:23349452, PMID:23396983, PMID:23418287, PMID:23527136, PMID:23534983, PMID:23549607, PMID:23642604, PMID:23674513, PMID:23690394, PMID:23711808, PMID:23782526, PMID:23820649, PMID:23840593, PMID:23861362, PMID:23896226, PMID:23980194, PMID:24033266, PMID:24055113, PMID:24062880, PMID:24083979, PMID:24093860, PMID:24111713, PMID:24113344, PMID:24119082, PMID:24503780, PMID:24510615, PMID:24602869, PMID:24621997, PMID:24704860, PMID:24721642, PMID:24774285, PMID:24774606, PMID:24793961, PMID:24795128, PMID:24810389, PMID:24835277, PMID:24865491, PMID:25031304, PMID:25037680, PMID:25058872, PMID:25078086, PMID:25086479, PMID:25127965, PMID:25163546, PMID:25210889, PMID:25214167, PMID:25262865, PMID:25335496, PMID:25342278, PMID:25351510, PMID:25377941, PMID:25443708, PMID:25447171, PMID:25524337, PMID:25525159, PMID:25558701, PMID:25569433, PMID:25611685, PMID:25631583, PMID:25637381, PMID:25740977, PMID:25741868, PMID:25741869, PMID:25971843, PMID:26090888, PMID:26178432, PMID:26189708, PMID:26267065, PMID:26332198, PMID:26332594, PMID:26383716, PMID:26458567, PMID:26467025, PMID:26654849, PMID:26671970, PMID:26688216, PMID:26822237, PMID:26899768, PMID:26914223, PMID:26936621, PMID:27096365, PMID:27108529, PMID:27112610, PMID:27153395, PMID:27194543, PMID:27267291, PMID:27418595, PMID:27435932, PMID:27483260, PMID:27532257, PMID:27561770, PMID:27576561, PMID:27600940, PMID:27618852, PMID:27650965, PMID:27688314, PMID:27737317, PMID:27831900, PMID:27834932, PMID:27841901, PMID:27896284, PMID:27930701, PMID:28024942, PMID:28074886, PMID:28087566, PMID:28138913, PMID:28166282, PMID:28193612, PMID:28214152, PMID:28323875, PMID:28356264, PMID:28408708, PMID:28416588, PMID:28420666, PMID:28436997, PMID:28492532, PMID:28498465, PMID:28518168, PMID:28538763, PMID:28614222, PMID:28615295, PMID:28679633, PMID:28750076, PMID:28771489, PMID:28790153, PMID:28794111, PMID:28807990, PMID:28971120, PMID:29029073, PMID:29032884, PMID:29121657, PMID:29212898, PMID:29247119, PMID:29367541, PMID:29447731, PMID:29451820, PMID:29497013, PMID:29540445, PMID:29555771, PMID:29661763, PMID:29663722, PMID:29709087, PMID:29710196, PMID:29875314, PMID:29875424, PMID:29988065, PMID:30165862, PMID:30206291, PMID:30297972, PMID:30311386, PMID:30645170, PMID:30762279, PMID:30871747, PMID:30959811, PMID:31333075, PMID:31568572, PMID:397516074, PMID:9048664, PMID:12110947, PMID:16004897, PMID:9562578 RGD:1580239, RGD:1580237, RGD:1580234, RGD:1580238 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar
CTD
PMID:2969919, PMID:8282798, PMID:8878443, PMID:11815426, PMID:14573521, PMID:15998695, PMID:19808347, PMID:19864899, PMID:20215591, PMID:20656787, PMID:21378987, PMID:22011241, PMID:22194935, PMID:22361390, PMID:22955375, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24082139, PMID:24119082, PMID:25351510, PMID:25467552, PMID:25500235, PMID:25717017, PMID:25741868, PMID:25931334, PMID:26085007, PMID:26284702, PMID:26656175, PMID:27194543, PMID:27607113, PMID:27760138, PMID:27789736, PMID:28088328, PMID:28416588, PMID:28492532, PMID:8614836 RGD:11065341 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Primary familial Hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar
CTD
PMID:1423936, PMID:1430197, PMID:1552912, PMID:1634614, PMID:1638703, PMID:1739523, PMID:1975517, PMID:1975599, PMID:2136805, PMID:2249844, PMID:3203908, PMID:7581410, PMID:7731997, PMID:7788887, PMID:7789380, PMID:7796500, PMID:7848441, PMID:7874131, PMID:7883988, PMID:7909436, PMID:7994801, PMID:8250038, PMID:8281650, PMID:8282798, PMID:8335820, PMID:8435239, PMID:8483915, PMID:8514894, PMID:8533830, PMID:8614836, PMID:8655135, PMID:8788376, PMID:8898372, PMID:8981935, PMID:9001794, PMID:9058851, PMID:9062359, PMID:9105042, PMID:9140839, PMID:9154300, PMID:9172070, PMID:9271024, PMID:9541509, PMID:9544842, PMID:9822100, PMID:9826622, PMID:9829907, PMID:9835779, PMID:9884344, PMID:10024460, PMID:10086390, PMID:10328076, PMID:10521296, PMID:10567705, PMID:10606622, PMID:10662815, PMID:10725281, PMID:10750581, PMID:10764406, PMID:10862102, PMID:10874840, PMID:10882745, PMID:10900182, PMID:10957787, PMID:11113006, PMID:11133230, PMID:11186938, PMID:11227787, PMID:11377367, PMID:11424919, PMID:11433818, PMID:11447480, PMID:11498078, PMID:11723028, PMID:11861410, PMID:11861413, PMID:11904418, PMID:12081993, PMID:12084606, PMID:12117842, PMID:12473556, PMID:12566107, PMID:12601548, PMID:12707239, PMID:12820698, PMID:12881443, PMID:12951062, PMID:12953063, PMID:12974739, PMID:12975413, PMID:13732753, PMID:15000344, PMID:15001446, PMID:15008060, PMID:15136674, PMID:15322983, PMID:15358028, PMID:15483641, PMID:15519027, PMID:15528230, PMID:15550524, PMID:15556047, PMID:15563892, PMID:15757018, PMID:15856146, PMID:15858117, PMID:16115294, PMID:16137545, PMID:16199542, PMID:16253604, PMID:16267253, PMID:16335287, PMID:16352453, PMID:16504640, PMID:16630450, PMID:16650083, PMID:16715312, PMID:16858239, PMID:16918501, PMID:17097032, PMID:17125710, PMID:17180650, PMID:17192269, PMID:17351073, PMID:17372140, PMID:17383184, PMID:17438619, PMID:17476457, PMID:17495353, PMID:17560888, PMID:17599605, PMID:17703256, PMID:17947214, PMID:17987111, PMID:18020371, PMID:18029407, PMID:18175163, PMID:18258667, PMID:18374998, PMID:18383048, PMID:18403758, PMID:18409188, PMID:18411228, PMID:18414213, PMID:18533079, PMID:18565996, PMID:18761664, PMID:18953637, PMID:19149795, PMID:19150014, PMID:19645038, PMID:19651039, PMID:19659763, PMID:19666645, PMID:19808347, PMID:19808356, PMID:19864899, PMID:19880069, PMID:20031602, PMID:20031618, PMID:20075948, PMID:20086309, PMID:20215591, PMID:20298698, PMID:20350521, PMID:20359594, PMID:20378854, PMID:20428263, PMID:20624503, PMID:20664766, PMID:20733148, PMID:20800588, PMID:20819418, PMID:20865685, PMID:20975235, PMID:21127202, PMID:21211974, PMID:21239280, PMID:21239446, PMID:21252143, PMID:21302287, PMID:21310275, PMID:21425739, PMID:21511876, PMID:21576279, PMID:21642240, PMID:21674835, PMID:21750094, PMID:21769673, PMID:21799269, PMID:21817903, PMID:21835320, PMID:21839045, PMID:21896538, PMID:21959974, PMID:22112859, PMID:22213221, PMID:22260945, PMID:22267749, PMID:22429680, PMID:22455086, PMID:22735528, PMID:22763267, PMID:22765922, PMID:22857948, PMID:22918376, PMID:22958901, PMID:23054336, PMID:23074333, PMID:23140321, PMID:23197161, PMID:23233322, PMID:23271734, PMID:23281406, PMID:23283745, PMID:23290139, PMID:23299917, PMID:23318932, PMID:23349452, PMID:23396983, PMID:23403236, PMID:23408646, PMID:23508784, PMID:23580644, PMID:23674513, PMID:23690394, PMID:23707328, PMID:23711808, PMID:23712688, PMID:23751935, PMID:23782526, PMID:23785128, PMID:23794396, PMID:23798412, PMID:23816408, PMID:23861362, PMID:23896226, PMID:24033266, PMID:24047955, PMID:24093860, PMID:24111713, PMID:24183960, PMID:24268868, PMID:24344137, PMID:24498601, PMID:24510615, PMID:24621997, PMID:24704860, PMID:24793961, PMID:24829265, PMID:24835277, PMID:24888384, PMID:24928957, PMID:25031304, PMID:25078086, PMID:25086479, PMID:25125180, PMID:25132132, PMID:25239116, PMID:25342278, PMID:25346696, PMID:25351510, PMID:25467552, PMID:25524337, PMID:25558701, PMID:25569433, PMID:25611685, PMID:25637381, PMID:25666907, PMID:25714468, PMID:25741868, PMID:25892673, PMID:25935763, PMID:25937619, PMID:25961035, PMID:26187847, PMID:26332594, PMID:26458567, PMID:26467025, PMID:26573135, PMID:26627873, PMID:26743238, PMID:26912705, PMID:26914223, PMID:26936621, PMID:26969127, PMID:26969327, PMID:27000522, PMID:27066507, PMID:27082122, PMID:27153395, PMID:27161364, PMID:27247418, PMID:27387980, PMID:27460395, PMID:27483260, PMID:27532257, PMID:27574918, PMID:27688314, PMID:27707468, PMID:27737317, PMID:27831900, PMID:27841901, PMID:27930701, PMID:27974200, PMID:28087426, PMID:28138913, PMID:28193612, PMID:28202948, PMID:28241245, PMID:28296734, PMID:28356264, PMID:28408708, PMID:28420666, PMID:28481356, PMID:28492532, PMID:28518168, PMID:28606303, PMID:28611029, PMID:28615295, PMID:28640247, PMID:28687478, PMID:28704380, PMID:28771489, PMID:28790153, PMID:28794111, PMID:28798025, PMID:28971120, PMID:29029073, PMID:29101517, PMID:29121657, PMID:29169752, PMID:29300372, PMID:29343710, PMID:29661763, PMID:29709087, PMID:29875424, PMID:29907873, PMID:30022097, PMID:30206291, PMID:30217213, PMID:30275503, PMID:30297972, PMID:30311386, PMID:30623132, PMID:30775854, PMID:30871747, PMID:31112422, PMID:31333075, PMID:31568572, PMID:31638223 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
DNA:missense mutations, splice-site mutation:exon, intron:multiple
DNA:missense mutations:exon:p.F18L, p.R58Q (human)
ClinVar
CTD
PMID:8673105, PMID:9241277, PMID:09535554, PMID:11102452, PMID:11748309, PMID:12404107, PMID:12668451, PMID:12707239, PMID:12818575, PMID:14594949, PMID:15483641, PMID:15706574, PMID:16837010, PMID:18506004, PMID:18533079, PMID:18929571, PMID:19150977, PMID:20173211, PMID:20855589, PMID:21310275, PMID:21415409, PMID:21723297, PMID:21835320, PMID:22091967, PMID:22260945, PMID:22797899, PMID:22958901, PMID:23197161, PMID:23283745, PMID:23299917, PMID:23343568, PMID:23396983, PMID:23727233, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24111713, PMID:24793961, PMID:25324513, PMID:25333069, PMID:25351510, PMID:25524337, PMID:25637381, PMID:25741868, PMID:26116789, PMID:26187847, PMID:26284228, PMID:26664906, PMID:26914223, PMID:27153395, PMID:27435932, PMID:27483260, PMID:27532257, PMID:27600940, PMID:28223422, PMID:28467684, PMID:28492532, PMID:28771489, PMID:29398688, PMID:29452157, PMID:29710196, PMID:30403391, PMID:30430732, PMID:11748309, PMID:9535554 RGD:1580241, RGD:1580240 NCBI chr12:39,951,863...39,959,065
Ensembl chr12:39,951,987...39,958,239
JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:8673105, PMID:11174330, PMID:12021217, PMID:16754800, PMID:20641121, PMID:21239446, PMID:21823217, PMID:22131351, PMID:22957257, PMID:22958901, PMID:23283745, PMID:23396983, PMID:23426552, PMID:23549607, PMID:23594557, PMID:23748425, PMID:24033266, PMID:24111713, PMID:25132132, PMID:25342278, PMID:25351510, PMID:25611685, PMID:25637381, PMID:25741868, PMID:25910212, PMID:26633542, PMID:27483260, PMID:27532257, PMID:27574918, PMID:28356264, PMID:28371863, PMID:28492532, PMID:28518168, PMID:28658286, PMID:28771489, PMID:28971120, PMID:29669825, PMID:29710196, PMID:29914921, PMID:30297972, PMID:30706179, PMID:31110529, PMID:31199839 NCBI chr 8:119,030,852...119,036,996
Ensembl chr 8:119,030,875...119,036,996
JBrowse link
G Myl9 myosin light chain 9 ISO RGD PMID:16076902 RGD:1582589 NCBI chr 3:152,857,573...152,863,961
Ensembl chr 3:152,857,592...152,863,960
JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr 3:148,386,185...148,397,851
Ensembl chr 3:148,386,189...148,399,501
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:24033266, PMID:28492532 NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
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 2:227,180,887...227,207,629
Ensembl chr 2:227,180,886...227,207,635
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:18006477, PMID:25741868, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr17:84,141,014...84,247,038
Ensembl chr17:84,140,489...84,488,601
JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:20970104, PMID:24033266, PMID:24503780, PMID:25741868, PMID:27532257, PMID:28492532, PMID:28798025 NCBI chr 2:257,452,937...257,484,607
Ensembl chr 2:257,453,347...257,484,587
JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr16:49,543,140...49,574,362
Ensembl chr16:49,543,142...49,574,390
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:19955750, PMID:20031616, PMID:20031617, PMID:20152563, PMID:20857253, PMID:21062920, PMID:21606390, PMID:22170284, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24352520, PMID:25395996, PMID:25741868, PMID:26676851, PMID:28341588, PMID:28492532, PMID:31539150 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr 5:171,662,277...171,711,561
Ensembl chr 5:171,662,277...171,710,316
JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
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:11827995, PMID:14722619, PMID:15611370, PMID:15673802, PMID:16836667, PMID:17483151, PMID:17711718, PMID:19808419, PMID:20031621, PMID:20381067, PMID:20888928, PMID:23778007, PMID:23829931, PMID:23992123, PMID:24033266, PMID:25741868, PMID:25997934, PMID:27532257, PMID:28341588, PMID:28431061, PMID:28492532, PMID:28917552, PMID:29298659, PMID:30311386 NCBI chr 4:6,559,153...6,799,888
Ensembl chr 4:6,559,545...6,799,632
JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:12077328, PMID:16523510, PMID:17603482, PMID:17603483, PMID:17603486, PMID:17603487, PMID:19437094, PMID:20052757, PMID:20679480, PMID:20683980, PMID:20876176, PMID:21396583, PMID:21784453, PMID:22389993, PMID:22465605, PMID:22781091, PMID:22826437, PMID:23613113, PMID:23737487, PMID:23877478, PMID:23885229, PMID:24033266, PMID:24777450, PMID:24803665, PMID:25741868, PMID:26266034, PMID:26446362, PMID:26580448, PMID:26903553, PMID:28492532, PMID:28750076, PMID:29493581 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:274,391,932...274,589,816
Ensembl chr 1:274,391,932...274,589,816
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar PMID:23861362, PMID:24033266, PMID:25163546, PMID:25650408, PMID:25741868, PMID:26656175, PMID:27054166, PMID:27930701, PMID:28492532 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:8661019, PMID:10690282, PMID:10727653, PMID:11823453, PMID:12639704, PMID:15121794, PMID:15689442, PMID:15851227, PMID:15851440, PMID:15992732, PMID:16155735, PMID:16568155, PMID:16707561, PMID:17210839, PMID:17605181, PMID:17905336, PMID:18245395, PMID:18378609, PMID:18976777, PMID:19251209, PMID:19412328, PMID:19841300, PMID:20110800, PMID:20129283, PMID:20486126, PMID:20981092, PMID:22378279, PMID:22519808, PMID:22581653, PMID:22682427, PMID:22840528, PMID:23174487, PMID:23321620, PMID:23414114, PMID:23465283, PMID:23853484, PMID:23861362, PMID:24033266, PMID:24529773, PMID:24573164, PMID:24784157, PMID:24795344, PMID:25051102, PMID:25172307, PMID:25650408, PMID:25741868, PMID:25748040, PMID:26111534, PMID:26131924, PMID:26159999, PMID:26467025, PMID:27153395, PMID:27281089, PMID:27554632, PMID:28472724, PMID:28491758, PMID:28492532, PMID:28493952, PMID:28498465, PMID:28638671, PMID:28798025, PMID:29672598, PMID:29997009, PMID:30079003, PMID:30146492, PMID:30419068, PMID:31333075, PMID:31568572 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr 1:274,700,621...274,751,195
Ensembl chr 1:274,688,580...274,751,816
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar PMID:24033266 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266, PMID:28492532, PMID:29915097 NCBI chr 1:170,585,160...170,586,428
Ensembl chr 1:170,585,167...170,586,603
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy
ClinVar PMID:16911908, PMID:18414213, PMID:18585512, PMID:19035361, PMID:19412328, PMID:20215591, PMID:20474083, PMID:22194935, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24037902, PMID:24503780, PMID:25741868, PMID:26084686, PMID:26332198, PMID:26350513, PMID:26467025, PMID:27532257, PMID:28492532, PMID:30311386, PMID:30871747 NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:28492532 NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3144325, PMID:9241277, PMID:10098965, PMID:10806205, PMID:11735257, PMID:11801593, PMID:11815426, PMID:12531876, PMID:12707239, PMID:12860912, PMID:15070570, PMID:15201162, PMID:15524171, PMID:15607392, PMID:15631686, PMID:15698845, PMID:15961398, PMID:15992656, PMID:16020591, PMID:16199542, PMID:16335287, PMID:16352453, PMID:16531415, PMID:17027633, PMID:17463320, PMID:18408133, PMID:18423659, PMID:19033660, PMID:19289050, PMID:19449150, PMID:19645627, PMID:19754353, PMID:19914256, PMID:20161772, PMID:20350521, PMID:20624503, PMID:20641121, PMID:20800588, PMID:21239446, PMID:21310275, PMID:21511876, PMID:21533915, PMID:21799269, PMID:21839045, PMID:21896538, PMID:21967901, PMID:22112859, PMID:22301726, PMID:22429680, PMID:22675533, PMID:22876777, PMID:23270746, PMID:23283745, PMID:23396983, PMID:23540544, PMID:23610579, PMID:23906401, PMID:23967088, PMID:24033266, PMID:24111713, PMID:24113344, PMID:24474965, PMID:24510615, PMID:24704860, PMID:25132132, PMID:25228707, PMID:25239116, PMID:25342278, PMID:25351510, PMID:25440410, PMID:25524337, PMID:25558701, PMID:25611685, PMID:25741868, PMID:25940119, PMID:26169204, PMID:26506446, PMID:26741492, PMID:26914223, PMID:27532257, PMID:27600940, PMID:28138913, PMID:28166811, PMID:28193612, PMID:28356264, PMID:28492532, PMID:28771489, PMID:28790153, PMID:30384889, PMID:31333075, PMID:31568572 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:72,889,270...72,899,629
Ensembl chr 1:72,889,270...72,899,659
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar
CTD
PMID:2946667, PMID:7898523, PMID:8205619, PMID:8951566, PMID:9060892, PMID:9140840, PMID:9201030, PMID:9241277, PMID:10085122, PMID:10405326, PMID:10467159, PMID:10497196, PMID:10521296, PMID:10525521, PMID:10610467, PMID:10617660, PMID:10978365, PMID:11346248, PMID:11432788, PMID:11560853, PMID:11606294, PMID:11968089, PMID:12084606, PMID:12409295, PMID:12600890, PMID:12707239, PMID:12818575, PMID:12860912, PMID:12881443, PMID:14563299, PMID:14636924, PMID:14640471, PMID:14654368, PMID:14722098, PMID:15246915, PMID:15519027, PMID:15542288, PMID:15631686, PMID:15958377, PMID:16115294, PMID:16115869, PMID:16199542, PMID:16326803, PMID:16715312, PMID:16754800, PMID:16777946, PMID:16858239, PMID:17101185, PMID:17612745, PMID:18029407, PMID:18403758, PMID:18533079, PMID:19033660, PMID:19035361, PMID:19150014, PMID:19275886, PMID:19412328, PMID:19645627, PMID:19880069, PMID:19914256, PMID:20031601, PMID:20031602, PMID:20031618, PMID:20038417, PMID:20215591, PMID:20414521, PMID:20439259, PMID:20530761, PMID:20624503, PMID:20800588, PMID:21310275, PMID:21483645, PMID:21511876, PMID:21683708, PMID:21846512, PMID:22017532, PMID:22112859, PMID:22144547, PMID:22321274, PMID:22334656, PMID:22455086, PMID:22500102, PMID:22579624, PMID:22857948, PMID:22958901, PMID:23074333, PMID:23233322, PMID:23283745, PMID:23299917, PMID:23396983, PMID:23494605, PMID:23674365, PMID:23711808, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24111713, PMID:24418317, PMID:24503780, PMID:24721642, PMID:25086479, PMID:25351510, PMID:25524337, PMID:25611685, PMID:25637381, PMID:25668678, PMID:25741868, PMID:26183555, PMID:26468400, PMID:26507537, PMID:26633542, PMID:26656175, PMID:26681313, PMID:26688388, PMID:26743238, PMID:26914223, PMID:27022107, PMID:27074551, PMID:27082122, PMID:27483260, PMID:27493864, PMID:27532257, PMID:27600940, PMID:27930701, PMID:28193612, PMID:28356264, PMID:28492532, PMID:28771489, PMID:28790153, PMID:28973083, PMID:29121657, PMID:29661763, PMID:29907873, PMID:30165862, PMID:30311386, PMID:7898523 RGD:1559062 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar
CTD
PMID:07729014, PMID:07898523, PMID:08205619, PMID:08523464, PMID:08774330, PMID:09060904, PMID:9241277, PMID:9245729, PMID:09440709, PMID:09822100, PMID:10400910, PMID:10900175, PMID:11606294, PMID:11968089, PMID:12473556, PMID:12858563, PMID:12860912, PMID:14734051, PMID:15000344, PMID:15519027, PMID:16014439, PMID:16365313, PMID:16504640, PMID:18403758, PMID:18409188, PMID:18414213, PMID:18533079, PMID:19035361, PMID:20031602, PMID:20965760, PMID:21295541, PMID:21310275, PMID:21320446, PMID:21376702, PMID:21551322, PMID:21835320, PMID:22112859, PMID:22155441, PMID:22187526, PMID:22462493, PMID:22789852, PMID:22794249, PMID:23204897, PMID:23396983, PMID:23508784, PMID:23700264, PMID:23771913, PMID:24033266, PMID:24510615, PMID:25241052, PMID:25524337, PMID:25548289, PMID:25607779, PMID:25611685, PMID:25741868, PMID:26936621, PMID:26960954, PMID:27376658, PMID:27532257, PMID:27600940, PMID:27639548, PMID:28138913, PMID:28492532, PMID:29121657, PMID:29760186, PMID:30165862, PMID:30240712, PMID:30311386, PMID:31308319, PMID:15000344 RGD:1580447 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
G Trim63 tripartite motif containing 63 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:10953002, PMID:11243782, PMID:11679633, PMID:11927605, PMID:15596539, PMID:15601779, PMID:16477476, PMID:17272810, PMID:17786241, PMID:18157088, PMID:19498199, PMID:22821932, PMID:24436435, PMID:24865491, PMID:25801283, PMID:28492532 NCBI chr 5:152,533,362...152,547,138
Ensembl chr 5:152,533,349...152,547,179
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar PMID:11846417, PMID:18414213, PMID:23396983, PMID:23861362, PMID:24033266, PMID:25589632, PMID:25741868, PMID:26467025, PMID:28045975, PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868, PMID:26537620, PMID:28492532 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:28492532 NCBI chr11:86,667,994...86,716,063
Ensembl chr11:86,667,997...86,716,254
JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:20474083, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25351510, PMID:26656175, PMID:28492532 NCBI chr15:3,455,211...3,544,738
Ensembl chr15:3,455,211...3,544,702
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:17655857, PMID:23861362, PMID:25163546, PMID:25741868, PMID:28492532, PMID:29988065 NCBI chr16:19,097,391...19,124,062
Ensembl chr16:19,097,391...19,124,062
JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 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:10749987, PMID:11673586, PMID:12020273, PMID:14970747, PMID:14994243, PMID:16326995, PMID:18924171, PMID:23643385, PMID:25741868, PMID:25959673, PMID:28492532, PMID:30311386 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
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 chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa5 cytochrome C oxidase assembly factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:44,011,471...44,024,876
Ensembl chr 9:44,011,471...44,024,876
JBrowse link
G Coa6 cytochrome c oxidase assembly factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:59,327,328...59,333,706
Ensembl chr19:59,328,960...59,331,192
JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1 ClinVar PMID:23643385, PMID:25741868, PMID:28492532 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1 ClinVar PMID:23643385, PMID:25741868, PMID:28492532 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by OMIM:615119
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
ClinVar
OMIM
PMID:2175025, PMID:12474143, PMID:15235026, PMID:15863660, PMID:21412973, PMID:22310368, PMID:25741868, PMID:26959537, PMID:28492532 NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505
JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa5 cytochrome C oxidase assembly factor 5 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 ClinVar
OMIM
PMID:21457908 NCBI chr 9:44,011,471...44,024,876
Ensembl chr 9:44,011,471...44,024,876
JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa6 cytochrome c oxidase assembly factor 6 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 ClinVar
OMIM
PMID:22277967, PMID:24549041, PMID:25339201, PMID:25959673, PMID:26160915 NCBI chr19:59,327,328...59,333,706
Ensembl chr19:59,328,960...59,331,192
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:25741868 NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
JBrowse link
G Ace angiotensin I converting enzyme no_association ISO DNA:insertion/deletion:intron RGD PMID:9270088 RGD:1566491 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ace2 angiotensin I converting enzyme 2 ISO mRNA, protein:increased expression:myocardium (human) RGD PMID:32448590 RGD:40818260 NCBI chr  X:32,050,734...32,095,860
Ensembl chr  X:32,049,931...32,096,016
JBrowse link
G Acp2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:80,020,346...80,030,365
Ensembl chr 3:80,021,440...80,030,363
JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar PMID:10966831, PMID:12860912, PMID:14729850, PMID:15058760, PMID:16267253, PMID:16611632, PMID:17611253, PMID:17623677, PMID:17916152, PMID:17947298, PMID:18379140, PMID:18400036, PMID:18506004, PMID:18519860, PMID:18801786, PMID:19184181, PMID:19467449, PMID:19799913, PMID:20497191, PMID:20965760, PMID:21297463, PMID:21524215, PMID:21551322, PMID:21622575, PMID:21839045, PMID:22563033, PMID:24033266, PMID:24736382, PMID:25239116, PMID:25741868, PMID:27532257, PMID:28408708, PMID:28492532, PMID:28790153 NCBI chr 3:105,507,403...105,512,939
Ensembl chr 3:105,507,403...105,512,939
JBrowse link
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:30311386 NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954
JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar PMID:17097056, PMID:20022194, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24082139, PMID:25741868, PMID:26084686, PMID:27532257, PMID:28492532, PMID:30311386 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Adgrl4 adhesion G protein-coupled receptor L4 ISO protein:decreased expression:heart: RGD PMID:22606234 RGD:13838662 NCBI chr 2:256,609,787...256,724,642
Ensembl chr 2:256,609,787...256,724,641
JBrowse link
G Adm adrenomedullin IEP associated with Diabetes Mellitus, Experimental;protein:decreased expression:cardiomyocyte RGD PMID:17355819 RGD:1625294 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
JBrowse link
G Agt angiotensinogen no_association
susceptibility
ISO DNA:polymorphisms: :p.T174M, p.M235T (human)
DNA:polymorphism:cds:p.M235T(human)
RGD PMID:9270088, PMID:9023164 RGD:1566491, RGD:13432163 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Akap6 A-kinase anchoring protein 6 ISO RGD PMID:24812305 RGD:11251930 NCBI chr 6:73,553,111...73,991,992
Ensembl chr 6:73,553,210...73,990,534
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 chr 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Alpk3 alpha-kinase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:21441111, PMID:24033266, PMID:26846950, PMID:27106955 NCBI chr 1:142,882,997...142,931,940
Ensembl chr 1:142,883,040...142,931,940
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17242276, PMID:22581653, PMID:25741868, PMID:28492532 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO DNA:missense mutations:exon:p.P52A, p.T123M, p.I280V (human)
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar PMID:19608031, PMID:23299917, PMID:23572067, PMID:23861362, PMID:24033266, PMID:25089522, PMID:25741868, PMID:27143260, PMID:28492532, PMID:28672880, PMID:19608031 RGD:5133276 NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
JBrowse link
G Aph1b aph-1 homolog B, gamma secretase subunit ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:72,508,008...72,598,921
Ensembl chr 8:72,476,425...72,629,265
JBrowse link
G Arfgap2 ADP-ribosylation factor GTPase activating protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:80,081,541...80,093,659
Ensembl chr 3:80,081,647...80,093,658
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 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO
IEP
protein:decreased expression:heart
protein:decreased expression:cardiomyocyte
RGD PMID:25209900, PMID:25820375 RGD:11558015, RGD:13792650 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Becn1 beclin 1 ISO protein:increased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Ca12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:72,405,770...72,461,425
Ensembl chr 8:72,405,748...72,460,240
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20817017, PMID:22840528, PMID:23631430, PMID:23861362, PMID:24439875, PMID:25637381, PMID:25741868, PMID:26230511, PMID:26498160, PMID:27231019, PMID:28341588, PMID:28492532, PMID:30311386 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
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
ClinVar PMID:23861362, PMID:25741868, PMID:28492532, PMID:28614222 RGD:13513985 NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17655857, PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr16:19,097,391...19,124,062
Ensembl chr16:19,097,391...19,124,062
JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:30311386 NCBI chr 5:168,138,207...169,017,295
Ensembl chr 5:168,141,372...169,017,295
JBrowse link
G Capn2 calpain 2 IEP protein:increased expression, activity:nucleus RGD PMID:25820375 RGD:13792650 NCBI chr13:100,878,649...100,928,811
Ensembl chr13:100,878,650...100,928,811
JBrowse link
G Casp3 caspase 3 IEP associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:18192848 RGD:2293330 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Cav1 caveolin 1 ISS MouseDO NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cav3 caveolin 3 ISO
ISS
ClinVar Annotator: match by term: Hypertrophic myocardiopathy, UMLS MESH term: Hypertrophic Obstructive Cardiomyopathy ClinVar
MouseDO
NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Cd36 CD36 molecule IEP mRNA:increased expression:heart RGD PMID:19189074 RGD:2307222 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 8:117,620,293...117,648,034
Ensembl chr 8:117,620,317...117,648,028
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, PMID:22137083, PMID:23861362, PMID:24033266, PMID:25611685, PMID:25741868, PMID:26535225, PMID:27532257, PMID:28492532, PMID:28600387, PMID:28790153 NCBI chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:10617473, PMID:11053450, PMID:11479205, PMID:11719428, PMID:11967536, PMID:12094328, PMID:12533788, PMID:12690581, PMID:14648717, PMID:14648718, PMID:14648719, PMID:15122511, PMID:15488637, PMID:15492928, PMID:15520402, PMID:16257342, PMID:16492927, PMID:16880452, PMID:17085682, PMID:18172190, PMID:19338683, PMID:19805189, PMID:21807500, PMID:21956126, PMID:22006311, PMID:22058428, PMID:22419737, PMID:22811390, PMID:22994785, PMID:23469205, PMID:24033266, PMID:24884479, PMID:25431674, PMID:25741868, PMID:26084796, PMID:26467025, PMID:26641009, PMID:26681312, PMID:26822237, PMID:26845104, PMID:26884562, PMID:27083775, PMID:27153395, PMID:27269948, PMID:27433846, PMID:27751358, PMID:27798748, PMID:28125075, PMID:28135145, PMID:28195393, PMID:28492532, PMID:28503720, PMID:28514723, PMID:28727877, PMID:28734145, PMID:28779002, PMID:28802053, PMID:28874143, PMID:29351919, PMID:29489754, PMID:30311386 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Cma1 chymase 1 susceptibility ISO DNA:snp:5' utr:g.-1903G>A rs1800875 (human) RGD PMID:8759823 RGD:5128572 NCBI chr15:34,601,037...34,603,819
Ensembl chr15:34,601,037...34,603,819
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532, PMID:30311386 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO RGD PMID:12474143 RGD:1598468 NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505
JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:1560021, PMID:16483541, PMID:16793013, PMID:17116488, PMID:20171888, PMID:21920752, PMID:22106715, PMID:22995991, PMID:23194663, PMID:23299917, PMID:24033266, PMID:25208129, PMID:25741868, PMID:26694549, PMID:26961874, PMID:28492532 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
JBrowse link
G Crybb2 crystallin, beta B2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:30311386 NCBI chr12:49,577,580...49,588,555
Ensembl chr12:49,578,633...49,588,555
JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar PMID:9039266, PMID:12507422, PMID:12642359, PMID:14567970, PMID:15781201, PMID:16352453, PMID:17084280, PMID:18505755, PMID:19035361, PMID:20044516, PMID:20474083, PMID:21425739, PMID:22337857, PMID:22429680, PMID:23299917, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24082139, PMID:25351510, PMID:25741868, PMID:26656175, PMID:27353086, PMID:27532257, PMID:28492532, PMID:28790153, PMID:30012424, PMID:30048712, PMID:12642359 RGD:1598499 NCBI chr 1:104,147,205...104,166,389
Ensembl chr 1:104,147,206...104,166,367
JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
JBrowse link
G Ctnnb1 catenin beta 1 treatment ISO protein:increased phosphorylation:myocyte: RGD PMID:14993121 RGD:1598718 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Ctsl cathepsin L ISO RGD PMID:19096818 RGD:2315555 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
JBrowse link
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:80,030,437...80,052,984
Ensembl chr 3:80,030,437...80,052,953
JBrowse link
G Des desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19937601, PMID:19959795, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar PMID:22876777, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
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, PMID:21606396, PMID:21636032, PMID:23861362, PMID:24033266, PMID:25741868, PMID:26498160, PMID:27930701, PMID:28492532 NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20400443, PMID:21220045, PMID:23861362, PMID:24033266, PMID:24070718, PMID:24125834, PMID:25213555, PMID:25741868, PMID:27055156, PMID:28492532, PMID:28600387, PMID:30311386 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar PMID:18632414, PMID:19863551, PMID:21062920, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21859740, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24125834, PMID:24503780, PMID:24825141, PMID:25741868, PMID:28492532, PMID:30311386, PMID:8944586 RGD:1580892 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362, PMID:25741868 NCBI chr18:14,544,725...14,671,514
Ensembl chr18:14,471,213...14,657,332
JBrowse link
G Edn1 endothelin 1 IEP associated with Diabetes Mellitus, Experimental; protein:increased secretion:serum (rat) RGD PMID:19000375 RGD:2302065 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:30311386 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:119,594,049...119,653,675
Ensembl chr 9:119,594,629...119,653,255
JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 2:178,367,547...178,389,641
Ensembl chr 2:178,367,549...178,389,608
JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:23,237,617...23,611,580
Ensembl chr 1:23,409,408...23,610,164
JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr10:109,987,735...110,005,901
Ensembl chr10:109,987,735...110,005,901
JBrowse link
G Fbxl22 F-box and leucine-rich repeat protein 22 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:72,198,043...72,204,730
Ensembl chr 8:72,198,043...72,204,730
JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic ClinVar PMID:11583900 RGD:1580798 NCBI chr  X:159,112,516...159,172,528
Ensembl chr  X:159,112,880...159,172,524
JBrowse link
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr18:16,650,786...17,332,209
Ensembl chr18:16,650,806...17,332,210
JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18414213, PMID:22037554, PMID:25741868, PMID:28492532 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:30311386 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:21520333, PMID:25741868, PMID:26436962, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
JBrowse link
G Fxn frataxin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15936968, PMID:25741868 NCBI chr 1:242,123,975...242,152,834
Ensembl chr 1:242,123,975...242,152,834
JBrowse link
G Gaa glucosidase, alpha, acid ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
CTD
ClinVar
PMID:11328962, PMID:16838077, PMID:22644586, PMID:23430949, PMID:25243733, PMID:25525159, PMID:25741868, PMID:27623443, PMID:28196920, PMID:28492532, PMID:30311386 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:7504405, PMID:7911050, PMID:8395937, PMID:8411052, PMID:9452111, PMID:10666480, PMID:11531969, PMID:11668641, PMID:11914245, PMID:14635108, PMID:14680977, PMID:15091117, PMID:15702404, PMID:15712228, PMID:15806320, PMID:16232095, PMID:16754800, PMID:16773563, PMID:17555407, PMID:18057066, PMID:18154965, PMID:18297328, PMID:18849176, PMID:19373884, PMID:20110537, PMID:20122163, PMID:20360539, PMID:20464614, PMID:21062768, PMID:21092187, PMID:21229318, PMID:21517827, PMID:21598360, PMID:21683120, PMID:21972175, PMID:22226368, PMID:22682330, PMID:23219219, PMID:23332617, PMID:23393592, PMID:23430502, PMID:23568732, PMID:23677059, PMID:23818648, PMID:23935525, PMID:24033266, PMID:24829596, PMID:25078086, PMID:25468652, PMID:25611685, PMID:25637381, PMID:25741868, PMID:26047621, PMID:26415523, PMID:27532257, PMID:27832731, PMID:27979989, PMID:28492532, PMID:29018006 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
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, PMID:23465283, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24715918, PMID:25741868, PMID:25998140, PMID:28492532, PMID:28837624 NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
JBrowse link
G Gpr149 G protein-coupled receptor 149 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 2:152,838,836...152,912,027
Ensembl chr 2:152,839,117...152,911,553
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, PMID:26467025, PMID:27173043, PMID:27659478, PMID:28104484, PMID:28182231, PMID:28254189, PMID:28492532 NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
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 chr 8:72,029,550...72,198,363
Ensembl chr 8:72,029,489...72,198,358
JBrowse link
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20001863 NCBI chr 1:29,191,170...29,201,257
Ensembl chr 1:29,191,192...29,201,531
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISS MouseDO NCBI chr 9:93,112,781...93,130,135
Ensembl chr 9:93,112,805...93,125,014
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle (rat) RGD PMID:20601373 RGD:4145536 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G Igf1 insulin-like growth factor 1 severity ISO RGD PMID:12135130 RGD:1598422 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO associated with Diabetes Mellitus;protein:decreased expression:placenta RGD PMID:16750336 RGD:2311505 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8660453 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:30311386 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Jph2 junctophilin 2 disease_progression ISO
IEP
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
protein:decreased expression:heart
ClinVar PMID:17476457, PMID:22584458, PMID:23757202, PMID:23834499, PMID:23861362, PMID:23973696, PMID:24033266, PMID:25333069, PMID:25741868, PMID:27532831, PMID:28087566, PMID:28393127, PMID:28492532, PMID:28771489, PMID:15541368, PMID:20576937 RGD:1580652, RGD:6480270 NCBI chr 3:159,709,998...159,776,536
Ensembl chr 3:159,712,325...159,775,643
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
G Kat8 lysine acetyltransferase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27768893 NCBI chr 1:199,360,645...199,372,925
Ensembl chr 1:199,360,645...199,372,923
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
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, PMID:26332594, PMID:26467025, PMID:28492532 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
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, PMID:22840528, PMID:23632791, PMID:24700710, PMID:25741868, PMID:28492532 NCBI chr 4:176,783,287...176,789,143
Ensembl chr 4:176,782,498...176,789,304
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, PMID:25351510, PMID:25637381, PMID:25741868, PMID:26332594, PMID:28492532, PMID:28794082, PMID:29197658 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Klf1 Kruppel like factor 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:30311386 NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
G Klhl41 kelch-like family member 41 ISO RGD PMID:11583900 RGD:1580798 NCBI chr 3:55,910,177...55,923,303
Ensembl chr 3:55,910,177...55,923,303
JBrowse link
G Lactb lactamase, beta ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:72,750,174...72,766,307
Ensembl chr 8:72,750,171...72,766,389
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, PMID:30311386 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO
IMP
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
in hemizygote mutant male (LAMP2y/-)
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar PMID:15673802, PMID:18282207, PMID:19533775, PMID:21415759, PMID:24033266, PMID:24503780, PMID:25458169, PMID:25741868, PMID:26748608, PMID:27532257, PMID:28492532, PMID:16144992, PMID:29720683, PMID:15673802 RGD:1580822, RGD:13703117, RGD:1580826 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044
JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17235623, PMID:17394203, PMID:17438622, PMID:23299917, PMID:24033266, PMID:25041374, PMID:25616123, PMID:25741868, PMID:27532257, PMID:27561770, PMID:27896284, PMID:28492532 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:2526018, PMID:10612827, PMID:10739751, PMID:11102973, PMID:11180602, PMID:15060110, PMID:15770669, PMID:16585054, PMID:18478590, PMID:18795223, PMID:18926329, PMID:19875404, PMID:20497714, PMID:20848652, PMID:21831885, PMID:21980471, PMID:22177269, PMID:22199124, PMID:22276265, PMID:22355414, PMID:22526018, PMID:22570643, PMID:23183350, PMID:23328570, PMID:23349452, PMID:23861362, PMID:24033266, PMID:24503780, PMID:24623722, PMID:24768879, PMID:25025039, PMID:25448463, PMID:25637381, PMID:25741868, PMID:25873806, PMID:26183555, PMID:26467025, PMID:26498160, PMID:26752647, PMID:27000522, PMID:27153395, PMID:27447704, PMID:27532257, PMID:27813223, PMID:27896284, PMID:28087566, PMID:28492532, PMID:28531892, PMID:28663758, PMID:28701371, PMID:28807990, PMID:30311386 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:119,517,101...119,591,533
Ensembl chr 9:119,517,101...119,591,533
JBrowse link
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
JBrowse link
G Madd MAP-kinase activating death domain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:79,960,301...80,003,023
Ensembl chr 3:79,960,301...80,003,032
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha ISO protein:increased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
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 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link
G Masp1 mannan-binding lectin serine peptidase 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
JBrowse link
G Mir208a microRNA 208a ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr15:33,613,451...33,613,533 JBrowse link
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr15:33,639,510...33,639,621
Ensembl chr15:33,639,510...33,639,621
JBrowse link
G Mir451a microRNA 451a ISO RNA:decreased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chr10:65,291,204...65,291,275
Ensembl chr10:65,291,204...65,291,275
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:12952838 RGD:1582538 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:plasma RGD PMID:18585501 RGD:5130889 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma RGD PMID:18585501 RGD:5130889 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mtpn myotrophin ISS MouseDO NCBI chr 4:63,012,009...63,039,422
Ensembl chr 4:63,012,011...63,039,422
JBrowse link
G Mybpc3 myosin binding protein C3 ISO DNA:mutations: :multiple
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
DNA:polymorphism:exon:18443A>G (human)
ClinVar
CTD
PMID:1853307, PMID:2073894, PMID:2561168, PMID:2732257, PMID:2943217, PMID:3140859, PMID:7493025, PMID:7493026, PMID:7786104, PMID:9048664, PMID:9218526, PMID:9241277, PMID:9503187, PMID:9541100, PMID:9541104, PMID:9541115, PMID:9562578, PMID:9631872, PMID:9742053, PMID:10424815, PMID:10521296, PMID:10610770, PMID:10736283, PMID:11499718, PMID:11499719, PMID:11748309, PMID:11815426, PMID:11835941, PMID:11847170, PMID:12110947, PMID:12117842, PMID:12202917, PMID:12386147, PMID:12403824, PMID:12566107, PMID:12601548, PMID:12628722, PMID:12707239, PMID:12787675, PMID:12788380, PMID:12818575, PMID:12951062, PMID:12974739, PMID:14563344, PMID:14613868, PMID:14718142, PMID:15010274, PMID:15114369, PMID:15115610, PMID:15166115, PMID:15519027, PMID:15563892, PMID:15671604, PMID:15769446, PMID:15823648, PMID:15936968, PMID:16004897, PMID:16061003, PMID:16181148, PMID:16199542, PMID:16267253, PMID:16335287, PMID:16352453, PMID:16566405, PMID:16651346, PMID:16679492, PMID:16715312, PMID:16754800, PMID:16831826, PMID:16858239, PMID:17081393, PMID:17386157, PMID:17394878, PMID:17521870, PMID:17536430, PMID:17560888, PMID:17612681, PMID:17643520, PMID:17655857, PMID:17908752, PMID:17937428, PMID:18258667, PMID:18273486, PMID:18337725, PMID:18374358, PMID:18400036, PMID:18403758, PMID:18409188, PMID:18414213, PMID:18467358, PMID:18533079, PMID:18713777, PMID:18761664, PMID:18803133, PMID:18809796, PMID:18926831, PMID:18929575, PMID:18957093, PMID:19035361, PMID:19134269, PMID:19150014, PMID:19151713, PMID:19273718, PMID:19293840, PMID:19356534, PMID:19574547, PMID:19590044, PMID:19632136, PMID:19659763, PMID:19666645, PMID:19763152, PMID:19808356, PMID:19858127, PMID:19996403, PMID:20019025, PMID:20031602, PMID:20031618, PMID:20031619, PMID:20045868, PMID:20051424, PMID:20128375, PMID:20159828, PMID:20173211, PMID:20201939, PMID:20215591, PMID:20298698, PMID:20307669, PMID:20359594, PMID:20378854, PMID:20414521, PMID:20433692, PMID:20435227, PMID:20439259, PMID:20458009, PMID:20474083, PMID:20505798, PMID:20513729, PMID:20530761, PMID:20542340, PMID:20605413, PMID:20624503, PMID:20641121, PMID:20738943, PMID:20800588, PMID:20818890, PMID:20864638, PMID:20975235, PMID:21088121, PMID:21165360, PMID:21185001, PMID:21239446, PMID:21252143, PMID:21297165, PMID:21302287, PMID:21310275, PMID:21415409, PMID:21424860, PMID:21425739, PMID:21472310, PMID:21488259, PMID:21488307, PMID:21492761, PMID:21499742, PMID:21511876, PMID:21520333, PMID:21551322, PMID:21638988, PMID:21750094, PMID:21799269, PMID:21817903, PMID:21832025, PMID:21832052, PMID:21835286, PMID:21835320, PMID:21839045, PMID:21896538, PMID:21915287, PMID:21939669, PMID:21943931, PMID:21959974, PMID:21985754, PMID:22057632, PMID:22076249, PMID:22112859, PMID:22115648, PMID:22122802, PMID:22177269, PMID:22178992, PMID:22194935, PMID:22267749, PMID:22314326, PMID:22337857, PMID:22361390, PMID:22386539, PMID:22406018, PMID:22429680, PMID:22455086, PMID:22462493, PMID:22464770, PMID:22555271, PMID:22560514, PMID:22563033, PMID:22569109, PMID:22574137, PMID:22589294, PMID:22763267, PMID:22765922, PMID:22857948, PMID:22907696, PMID:22958901, PMID:22995991, PMID:23054336, PMID:23074333, PMID:23140321, PMID:23164068, PMID:23197398, PMID:23217326, PMID:23233322, PMID:23283745, PMID:23299917, PMID:23348723, PMID:23349452, PMID:23396983, PMID:23418287, PMID:23508784, PMID:23527136, PMID:23534983, PMID:23549607, PMID:23642604, PMID:23674513, PMID:23690394, PMID:23711808, PMID:23782526, PMID:23785128, PMID:23816408, PMID:23820649, PMID:23840593, PMID:23861362, PMID:23980194, PMID:24033266, PMID:24055113, PMID:24062880, PMID:24083979, PMID:24093860, PMID:24111713, PMID:24113344, PMID:24119082, PMID:24327208, PMID:24447051, PMID:24503780, PMID:24510615, PMID:24602869, PMID:24621997, PMID:24704860, PMID:24721642, PMID:24774285, PMID:24774606, PMID:24793961, PMID:24795128, PMID:24810389, PMID:24835277, PMID:24865491, PMID:25031304, PMID:25034069, PMID:25037680, PMID:25058872, PMID:25078086, PMID:25086479, PMID:25127965, PMID:25132132, PMID:25163546, PMID:25210889, PMID:25214167, PMID:25228707, PMID:25262865, PMID:25281569, PMID:25326637, PMID:25335496, PMID:25342278, PMID:25351510, PMID:25377941, PMID:25443708, PMID:25447171, PMID:25512492, PMID:25524337, PMID:25525159, PMID:25543971, PMID:25558701, PMID:25566086, PMID:25569433, PMID:25583989, PMID:25611685, PMID:25631583, PMID:25637381, PMID:25740977, PMID:25741868, PMID:25741869, PMID:25849606, PMID:25856671, PMID:25971843, PMID:26090888, PMID:26163040, PMID:26178432, PMID:26189708, PMID:26267065, PMID:26332198, PMID:26332594, PMID:26358504, PMID:26383716, PMID:26458567, PMID:26467025, PMID:26497160, PMID:26654849, PMID:26656175, PMID:26671970, PMID:26688216, PMID:26743238, PMID:26822237, PMID:26899768, PMID:26914223, PMID:26936621, PMID:27000522, PMID:27066507, PMID:27096365, PMID:27108529, PMID:27112610, PMID:27153395, PMID:27173948, PMID:27194543, PMID:27267291, PMID:27332903, PMID:27391121, PMID:27418595, PMID:27435932, PMID:27483260, PMID:27532257, PMID:27561770, PMID:27576561, PMID:27590665, PMID:27600940, PMID:27618852, PMID:27620334, PMID:27650965, PMID:27688314, PMID:27737317, PMID:27831900, PMID:27834932, PMID:27841901, PMID:27885498, PMID:27896284, PMID:27930701, PMID:27994558, PMID:28024942, PMID:28029522, PMID:28074886, PMID:28087566, PMID:28138913, PMID:28166282, PMID:28166811, PMID:28193612, PMID:28202948, PMID:28214152, PMID:28241245, PMID:28323875, PMID:28356264, PMID:28408708, PMID:28416588, PMID:28420666, PMID:28436997, PMID:28450932, PMID:28492532, PMID:28498465, PMID:28518168, PMID:28538763, PMID:28611029, PMID:28614222, PMID:28615295, PMID:28640247, PMID:28658286, PMID:28679633, PMID:28749478, PMID:28750076, PMID:28771489, PMID:28790153, PMID:28794111, PMID:28797094, PMID:28798025, PMID:28807990, PMID:28824454, PMID:28840316, PMID:28843747, PMID:28855170, PMID:28916354, PMID:28971120, PMID:29029073, PMID:29030401, PMID:29032884, PMID:29121657, PMID:29212898, PMID:29247119, PMID:29255176, PMID:29367541, PMID:29398688, PMID:29447731, PMID:29451820, PMID:29493010, PMID:29497013, PMID:29524613, PMID:29540445, PMID:29540472, PMID:29555771, PMID:29661763, PMID:29663722, PMID:29709087, PMID:29710196, PMID:29875314, PMID:29875424, PMID:29907873, PMID:29988065, PMID:30025578, PMID:30165862, PMID:30188508, PMID:30206291, PMID:30282064, PMID:30297972, PMID:30311386, PMID:30645170, PMID:30762279, PMID:30790116, PMID:30871747, PMID:30896616, PMID:30959811, PMID:30972196, PMID:30984009, PMID:31006259, PMID:31333075, PMID:31568572, PMID:31730716, PMID:32860008, PMID:397516074, PMID:15519027, PMID:15737656 RGD:1580235, RGD:1580233 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000973 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15998695, PMID:20656787, PMID:22011241, PMID:23861362, PMID:24033266, PMID:24082139, PMID:25741868, PMID:27600940, PMID:27789736, PMID:28416588, PMID:28492532, PMID:29741611, PMID:30311386 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 severity ISO DNA:missense mutations: :multiple
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.R719W (human)
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
DNA:deletion, missense mutations: :multiple
ClinVar
CTD
PMID:1361491, PMID:1423936, PMID:1430197, PMID:1472461, PMID:1552912, PMID:1634614, PMID:1638703, PMID:1739523, PMID:1944483, PMID:1975517, PMID:1975599, PMID:2062450, PMID:2136805, PMID:2249844, PMID:2411171, PMID:2753225, PMID:2790153, PMID:3203908, PMID:4104682, PMID:7532257, PMID:7581410, PMID:7648684, PMID:7662452, PMID:7731997, PMID:7786104, PMID:7788887, PMID:7789380, PMID:7796500, PMID:7848420, PMID:7848441, PMID:7874131, PMID:7883988, PMID:7909436, PMID:7994801, PMID:8186698, PMID:8250038, PMID:8254035, PMID:8268932, PMID:8281650, PMID:8282798, PMID:8335820, PMID:8343162, PMID:8435239, PMID:8483915, PMID:8490051, PMID:8514894, PMID:8533830, PMID:8614836, PMID:8655135, PMID:8788376, PMID:8898372, PMID:8981935, PMID:9001794, PMID:9058851, PMID:9062359, PMID:9105042, PMID:9140824, PMID:9140839, PMID:9154300, PMID:9172070, PMID:9271024, PMID:9476679, PMID:9541509, PMID:9544842, PMID:9822100, PMID:9826622, PMID:9829907, PMID:9835779, PMID:9874056, PMID:9884344, PMID:10024460, PMID:10065021, PMID:10086390, PMID:10328076, PMID:10424815, PMID:10521296, PMID:10563488, PMID:10567705, PMID:10606622, PMID:10662815, PMID:10679957, PMID:10725281, PMID:10750581, PMID:10764406, PMID:10862102, PMID:10874840, PMID:10882745, PMID:10900182, PMID:10957787, PMID:11106718, PMID:11113006, PMID:11133230, PMID:11186938, PMID:11196015, PMID:11227787, PMID:11377367, PMID:11424919, PMID:11433818, PMID:11447480, PMID:11498078, PMID:11723028, PMID:11733062, PMID:11748309, PMID:11861410, PMID:11861413, PMID:11904418, PMID:11968089, PMID:12081993, PMID:12084606, PMID:12117842, PMID:12379228, PMID:12473556, PMID:12566107, PMID:12590187, PMID:12601548, PMID:12707239, PMID:12749056, PMID:12818575, PMID:12820698, PMID:12881443, PMID:12951062, PMID:12953063, PMID:12974739, PMID:12975413, PMID:13732753, PMID:14520662, PMID:14656445, PMID:14659406, PMID:15000344, PMID:15001446, PMID:15008060, PMID:15010274, PMID:15114369, PMID:15136674, PMID:15184651, PMID:15322983, PMID:15358028, PMID:15483641, PMID:15519027, PMID:15528230, PMID:15550524, PMID:15556047, PMID:15563892, PMID:15699387, PMID:15757018, PMID:15769782, PMID:15856146, PMID:15858117, PMID:15940186, PMID:16115294, PMID:16137545, PMID:16199542, PMID:16253604, PMID:16267253, PMID:16335287, PMID:16352453, PMID:16504640, PMID:16630449, PMID:16630450, PMID:16650083, PMID:16684601, PMID:16715312, PMID:16754800, PMID:16858239, PMID:16918501, PMID:16938236, PMID:16983074, PMID:17019812, PMID:17095604, PMID:17097032, PMID:17118657, PMID:17125710, PMID:17180650, PMID:17192269, PMID:17336526, PMID:17351073, PMID:17372140, PMID:17383184, PMID:17438619, PMID:17476457, PMID:17495353, PMID:17548557, PMID:17560888, PMID:17599605, PMID:17612745, PMID:17703256, PMID:17947214, PMID:17987111, PMID:18020371, PMID:18029407, PMID:18076673, PMID:18175163, PMID:18258667, PMID:18374998, PMID:18380764, PMID:18383048, PMID:18403758, PMID:18409188, PMID:18411228, PMID:18414213, PMID:18506004, PMID:18519860, PMID:18533079, PMID:18555187, PMID:18565996, PMID:18660445, PMID:18761664, PMID:18953637, PMID:19035361, PMID:19134269, PMID:19138847, PMID:19149795, PMID:19150014, PMID:19293840, PMID:19336582, PMID:19412328, PMID:19477645, PMID:19586842, PMID:19645038, PMID:19651039, PMID:19659763, PMID:19666645, PMID:19808347, PMID:19808356, PMID:19843903, PMID:19854198, PMID:19864899, PMID:19880069, PMID:19913502, PMID:20031602, PMID:20031618, PMID:20031619, PMID:20038417, PMID:20075948, PMID:20086309, PMID:20215591, PMID:20298698, PMID:20309391, PMID:20350521, PMID:20359594, PMID:20376763, PMID:20378854, PMID:20394946, PMID:20428263, PMID:20439259, PMID:20474083, PMID:20513729, PMID:20530761, PMID:20573160, PMID:20594303, PMID:20624503, PMID:20641121, PMID:20646679, PMID:20664766, PMID:20733148, PMID:20738943, PMID:20800588, PMID:20811150, PMID:20817590, PMID:20818890, PMID:20819418, PMID:20865685, PMID:20952769, PMID:20965760, PMID:20975235, PMID:20981092, PMID:21127202, PMID:21185001, PMID:21216834, PMID:21239280, PMID:21239446, PMID:21252143, PMID:21302287, PMID:21310275, PMID:21425739, PMID:21426742, PMID:21482996, PMID:21483645, PMID:21499742, PMID:21511876, PMID:21520333, PMID:21551322, PMID:21576279, PMID:21642240, PMID:21674835, PMID:21750094, PMID:21769673, PMID:21799269, PMID:21811976, PMID:21817903, PMID:21832052, PMID:21835320, PMID:21839045, PMID:21896538, PMID:21943931, PMID:21958740, PMID:21959974, PMID:22112859, PMID:22155079, PMID:22177269, PMID:22213221, PMID:22260945, PMID:22267749, PMID:22286171, PMID:22337857, PMID:22429680, PMID:22455086, PMID:22464770, PMID:22555271, PMID:22735528, PMID:22763267, PMID:22765922, PMID:22784669, PMID:22811549, PMID:22857948, PMID:22859017, PMID:22918376, PMID:22949430, PMID:22958901, PMID:23054336, PMID:23074333, PMID:23140321, PMID:23153285, PMID:23197161, PMID:23197398, PMID:23233322, PMID:23271734, PMID:23281406, PMID:23283745, PMID:23290139, PMID:23299917, PMID:23313350, PMID:23318932, PMID:23349452, PMID:23396983, PMID:23403236, PMID:23408646, PMID:23426552, PMID:23508784, PMID:23549607, PMID:23580644, PMID:23674513, PMID:23690394, PMID:23707328, PMID:23711808, PMID:23712688, PMID:23751935, PMID:23782526, PMID:23785128, PMID:23794396, PMID:23798412, PMID:23816408, PMID:23861362, PMID:24033266, PMID:24047955, PMID:24093860, PMID:24111713, PMID:24119082, PMID:24183960, PMID:24215330, PMID:24268868, PMID:24298987, PMID:24344137, PMID:24498601, PMID:24503780, PMID:24510615, PMID:24558114, PMID:24621997, PMID:24664454, PMID:24691700, PMID:24704860, PMID:24721642, PMID:24749114, PMID:24793961, PMID:24829265, PMID:24835277, PMID:24865491, PMID:24888384, PMID:24928957, PMID:25031304, PMID:25078086, PMID:25086479, PMID:25125180, PMID:25132132, PMID:25163446, PMID:25163546, PMID:25214167, PMID:25228707, PMID:25239116, PMID:25326635, PMID:25327599, PMID:25332820, PMID:25342278, PMID:25346696, PMID:25351510, PMID:25422285, PMID:25447171, PMID:25447691, PMID:25448463, PMID:25467552, PMID:25524337, PMID:25543971, PMID:25558701, PMID:25569433, PMID:25576864, PMID:25611685, PMID:25637381, PMID:25649125, PMID:25666907, PMID:25714468, PMID:25741868, PMID:25892673, PMID:25931334, PMID:25935763, PMID:25937279, PMID:25937619, PMID:25961035, PMID:25979592, PMID:26025024, PMID:26084686, PMID:26162782, PMID:26187847, PMID:26199943, PMID:26220970, PMID:26223264, PMID:26246073, PMID:26271555, PMID:26332594, PMID:26383716, PMID:26406308, PMID:26446785, PMID:26458567, PMID:26467025, PMID:26468400, PMID:26497160, PMID:26573135, PMID:26627873, PMID:26656175, PMID:26688388, PMID:26743238, PMID:26782017, PMID:26846766, PMID:26899768, PMID:26912705, PMID:26914223, PMID:26936621, PMID:26969127, PMID:26969327, PMID:27000522, PMID:27066506, PMID:27066507, PMID:27082122, PMID:27153395, PMID:27161364, PMID:27161882, PMID:27224906, PMID:27247418, PMID:27282841, PMID:27387980, PMID:27460395, PMID:27483260, PMID:27519903, PMID:27532257, PMID:27574918, PMID:27576561, PMID:27600940, PMID:27662471, PMID:27688314, PMID:27707468, PMID:27737317, PMID:27788187, PMID:27831900, PMID:27841901, PMID:27854218, PMID:27884173, PMID:27885498, PMID:27930701, PMID:27965028, PMID:27974200, PMID:28005231, PMID:28045975, PMID:28087426, PMID:28125727, PMID:28138913, PMID:28152038, PMID:28193612, PMID:28202948, PMID:28241245, PMID:28246639, PMID:28265379, PMID:28296734, PMID:28323875, PMID:28356264, PMID:28396031, PMID:28408708, PMID:28416588, PMID:28420666, PMID:28449774, PMID:28481356, PMID:28492532, PMID:28498465, PMID:28518168, PMID:28566242, PMID:28588093, PMID:28606303, PMID:28611029, PMID:28615295, PMID:28640247, PMID:28642161, PMID:28687478, PMID:28699631, PMID:28704380, PMID:28750076, PMID:28771489, PMID:28777849, PMID:28790153, PMID:28794111, PMID:28798025, PMID:28807990, PMID:28815794, PMID:28855170, PMID:28878402, PMID:28971120, PMID:28973424, PMID:28986452, PMID:29029073, PMID:29093449, PMID:29101517, PMID:29121657, PMID:29169752, PMID:29178653, PMID:29212898, PMID:29255176, PMID:29300372, PMID:29343710, PMID:29343803, PMID:29447731, PMID:29497013, PMID:29540472, PMID:29661763, PMID:29666183, PMID:29686627, PMID:29709087, PMID:29710196, PMID:29741611, PMID:29773157, PMID:29867217, PMID:29875424, PMID:29892087, PMID:29907873, PMID:29915097, PMID:29970176, PMID:29997562, PMID:30022097, PMID:30105547, PMID:30165862, PMID:30206291, PMID:30217213, PMID:30275503, PMID:30297972, PMID:30311386, PMID:30384889, PMID:30511546, PMID:30623132, PMID:30674652, PMID:30696458, PMID:30775854, PMID:30868567, PMID:30871747, PMID:30972196, PMID:31110529, PMID:31112422, PMID:31130376, PMID:31199839, PMID:31333075, PMID:31568572, PMID:31638223, PMID:15856146, PMID:9154300, PMID:15358028 RGD:1580926, RGD:11065270, RGD:1580929 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:08673105, PMID:9527842, PMID:09535554, PMID:9724616, PMID:10948063, PMID:11102452, PMID:11748309, PMID:12404107, PMID:12668451, PMID:12707239, PMID:12818575, PMID:14594949, PMID:15483641, PMID:16076902, PMID:16751284, PMID:16837010, PMID:17606808, PMID:18506004, PMID:18533079, PMID:18929571, PMID:19150977, PMID:20173211, PMID:20855589, PMID:21310275, PMID:21723297, PMID:21835320, PMID:21896538, PMID:22091967, PMID:22797899, PMID:22958901, PMID:23197161, PMID:23283745, PMID:23299917, PMID:23343568, PMID:23365102, PMID:23396983, PMID:23727233, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24111713, PMID:24793961, PMID:25324513, PMID:25333069, PMID:25351510, PMID:25524337, PMID:25611685, PMID:25637381, PMID:25741868, PMID:26116789, PMID:26187847, PMID:26497160, PMID:26664906, PMID:26914223, PMID:27153395, PMID:27435932, PMID:27483260, PMID:27532257, PMID:27600940, PMID:28223422, PMID:28492532, PMID:28771489, PMID:29398688, PMID:29452157, PMID:29710196, PMID:30403391, PMID:30430732 NCBI chr12:39,951,863...39,959,065
Ensembl chr12:39,951,987...39,958,239
JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar PMID:6211078, PMID:8673105, PMID:11174330, PMID:12021217, PMID:16267253, PMID:16754800, PMID:17142342, PMID:18403758, PMID:18409188, PMID:20031618, PMID:20641121, PMID:21239446, PMID:21823217, PMID:21885653, PMID:22131351, PMID:22957257, PMID:22958901, PMID:23054336, PMID:23283745, PMID:23396983, PMID:23426552, PMID:23549607, PMID:23594557, PMID:23748425, PMID:24033266, PMID:24111713, PMID:24510615, PMID:24911555, PMID:25132132, PMID:25342278, PMID:25351510, PMID:25637381, PMID:25741868, PMID:25856671, PMID:25910212, PMID:26385864, PMID:26443374, PMID:26633542, PMID:27153395, PMID:27483260, PMID:27532257, PMID:27574918, PMID:27831900, PMID:28193612, PMID:28241245, PMID:28356264, PMID:28371863, PMID:28492532, PMID:28518168, PMID:28615295, PMID:28658286, PMID:28771489, PMID:28790153, PMID:28971120, PMID:29121657, PMID:29420653, PMID:29669825, PMID:29709087, PMID:29710196, PMID:29914921, PMID:30297972, PMID:30706179, PMID:31110529, PMID:31199839, PMID:31447099, PMID:31513939, PMID:32380161, PMID:32492895 NCBI chr 8:119,030,852...119,036,996
Ensembl chr 8:119,030,875...119,036,996
JBrowse link
G Myl4 myosin, light chain 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr10:92,628,356...92,638,100
Ensembl chr10:92,628,356...92,638,100
JBrowse link
G Myl7 myosin light chain 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr14:86,144,770...86,147,075
Ensembl chr14:86,143,862...86,147,553
JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:148,386,185...148,397,851
Ensembl chr 3:148,386,189...148,399,501
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:26036949, PMID:26656175, PMID:27662471, PMID:28492532 NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
JBrowse link
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17347475, PMID:17434779, PMID:19472918, PMID:22310962, PMID:22987565, PMID:23861362, PMID:24033266, PMID:25741868, PMID:27532257, PMID:27788187, PMID:28492532, PMID:28798025 NCBI chr 2:227,180,887...227,207,629
Ensembl chr 2:227,180,886...227,207,635
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18006477, PMID:20801532, PMID:22286171, PMID:23861362, PMID:24033266, PMID:25741868, PMID:27884173, PMID:27896284, PMID:28492532 NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182
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 chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398
JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr17:84,141,014...84,247,038
Ensembl chr17:84,140,489...84,488,601
JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:257,452,937...257,484,607
Ensembl chr 2:257,453,347...257,484,587
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr10:81,657,152...81,666,542
Ensembl chr10:81,657,153...81,666,523
JBrowse link
G Nmnat2 nicotinamide nucleotide adenylyltransferase 2 IEP protein:decreased expression, decreased activity:heart RGD PMID:22449973 RGD:13782043 NCBI chr13:70,379,346...70,559,311
Ensembl chr13:70,379,346...70,559,458
JBrowse link
G Npm1 nucleophosmin 1 ISO protein:increased expression:cardiomyocyte: RGD PMID:21444791 RGD:11535018 NCBI chr10:18,080,949...18,091,062
Ensembl chr10:18,080,950...18,090,950
JBrowse link
G Nppa natriuretic peptide A IEP protein:decreased expression:cardiomyocyte RGD PMID:25820375 RGD:13792650 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
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 3:80,004,130...80,014,197
Ensembl chr 3:80,004,130...80,012,750
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
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 3:80,072,425...80,081,058
Ensembl chr 3:80,072,489...80,081,047
JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17254821, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr16:49,543,140...49,574,362
Ensembl chr16:49,543,142...49,574,390
JBrowse link
G Pepd peptidase D ISS MouseDO NCBI chr 1:90,820,670...91,285,128 JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISS MouseDO NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:189621, PMID:16567567, PMID:17556197, PMID:19863551, PMID:19955750, PMID:20525856, PMID:20716751, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24352520, PMID:25163546, PMID:25637381, PMID:25741868, PMID:26498160, PMID:28301460, PMID:28492532, PMID:29802319, PMID:30445427 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12639993, PMID:16235537, PMID:17655857, PMID:21167350, PMID:21332051, PMID:22137083, PMID:23861362, PMID:24033266, PMID:25611685, PMID:25741868, PMID:26535225, PMID:27532257, PMID:28492532, PMID:28600387, PMID:28790153 NCBI chr20:34,633,157...34,642,904
Ensembl chr20:34,633,157...34,642,904
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2536513, PMID:2831920, PMID:2853496, PMID:8381257, PMID:8928979 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Ppp6r1 protein phosphatase 6, regulatory subunit 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:72,756,819...72,784,492
Ensembl chr 1:72,756,809...72,784,482
JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:30311386 NCBI chr 5:171,662,277...171,711,561
Ensembl chr 5:171,662,277...171,710,316
JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:10355918, PMID:10820940, PMID:11407343, PMID:11748095, PMID:11827995, PMID:14519435, PMID:14722619, PMID:15611370, PMID:15673802, PMID:15877279, PMID:16487706, PMID:16716659, PMID:16836667, PMID:17483151, PMID:17597581, PMID:17711718, PMID:18403758, PMID:19787389, PMID:19808419, PMID:20005292, PMID:20031621, PMID:20381067, PMID:20600102, PMID:20888928, PMID:23778007, PMID:23829931, PMID:23992123, PMID:24033266, PMID:24503780, PMID:25092788, PMID:25611685, PMID:25741868, PMID:25997934, PMID:26085771, PMID:26729852, PMID:27189955, PMID:27532257, PMID:27573176, PMID:27621313, PMID:28341588, PMID:28431061, PMID:28492532, PMID:28917552, PMID:29121657, PMID:29298659, PMID:30311386, PMID:16275868 RGD:1580716 NCBI chr 4:6,559,153...6,799,888
Ensembl chr 4:6,559,545...6,799,632
JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:79,876,938...79,882,319
Ensembl chr 3:79,876,938...79,882,319
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO
ISS
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
MouseDO
PMID:1258892, PMID:1543375, PMID:4025385, PMID:4386970, PMID:8530013, PMID:9222968, PMID:11704759, PMID:11992261, PMID:12058348, PMID:12960218, PMID:14644997, PMID:14961557, PMID:15121796, PMID:15520399, PMID:15712196, PMID:15987685, PMID:16338218, PMID:16358218, PMID:16377799, PMID:16523510, PMID:16638574, PMID:17020470, PMID:17056636, PMID:17222357, PMID:17339163, PMID:17361219, PMID:17935252, PMID:18372317, PMID:18373317, PMID:18849586, PMID:19020799, PMID:19054014, PMID:19133693, PMID:19174044, PMID:19206169, PMID:19467855, PMID:19737548, PMID:19825837, PMID:19864201, PMID:20308328, PMID:20493809, PMID:20535210, PMID:20883402, PMID:21365175, PMID:21396583, PMID:21500339, PMID:21533187, PMID:21910245, PMID:22190897, PMID:22315187, PMID:22411627, PMID:22555271, PMID:22585553, PMID:22681964, PMID:23312806, PMID:23317994, PMID:23457302, PMID:23584145, PMID:23813970, PMID:24033266, PMID:24037001, PMID:24451042, PMID:24628801, PMID:24767283, PMID:24775816, PMID:24935154, PMID:25544017, PMID:25741868, PMID:25884655, PMID:25917897, PMID:26249544, PMID:26297936, PMID:26337637, PMID:27238887, PMID:27484170, PMID:27521173, PMID:27619028, PMID:27659786, PMID:28492532, PMID:28681392, PMID:29493581, PMID:30311386, PMID:32581362, PMID:22058153 RGD:11072362 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Ptprh protein tyrosine phosphatase, receptor type, H ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:72,809,935...72,859,161
Ensembl chr 1:72,810,545...72,859,161
JBrowse link
G Rab8b RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:72,641,680...72,714,646
Ensembl chr 8:72,638,003...72,714,664
JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
CTD
ClinVar
PMID:1760348, PMID:10064593, PMID:16523510, PMID:17603482, PMID:17603483, PMID:19437094, PMID:19568997, PMID:19953625, PMID:20052757, PMID:20876176, PMID:21396583, PMID:21440552, PMID:21784453, PMID:22389993, PMID:22826437, PMID:23312806, PMID:23321623, PMID:23613113, PMID:23877478, PMID:24033266, PMID:24775816, PMID:24777450, PMID:25706034, PMID:25741868, PMID:26446362, PMID:26619011, PMID:26903553, PMID:28492532, PMID:29084544, PMID:29493581, PMID:30311386 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
JBrowse link
G Rassf1 Ras association domain family member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19652091 NCBI chr 8:116,307,149...116,318,289
Ensembl chr 8:116,307,141...116,318,289
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, PMID:27896284, PMID:28492532, PMID:29650543 NCBI chr 1:274,391,932...274,589,816
Ensembl chr 1:274,391,932...274,589,816
JBrowse link
G Retn resistin ISO DNA, protein:SNP, increased expression:promoter, serum:-420G>C (rs1862513) (human) RGD PMID:20171599 RGD:7207251 NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
JBrowse link
G RGD1309540 similar to hypothetical protein MGC40841; similar to hypothetical protein MGC4707 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:80,092,589...80,349,249
Ensembl chr 3:80,095,042...80,349,145
JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 8:116,829,050...116,857,050
Ensembl chr 8:116,829,050...116,856,548
JBrowse link
G Rps27l ribosomal protein S27-like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:72,741,155...72,746,090
Ensembl chr 8:72,741,155...72,746,090
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar PMID:1572740, PMID:8589694, PMID:11159936, PMID:11208676, PMID:16272262, PMID:17875969, PMID:18483626, PMID:18752142, PMID:19345240, PMID:19362677, PMID:19926015, PMID:22221940, PMID:23022705, PMID:24025405, PMID:24033266, PMID:24631775, PMID:25041964, PMID:25741868, PMID:26018045, PMID:26633542, PMID:27538377, PMID:28237968, PMID:28256248, PMID:28404607, PMID:28492532 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar PMID:10807545, PMID:12123767, PMID:15689442, PMID:15851227, PMID:16155735, PMID:17227473, PMID:18426444, PMID:19841300, PMID:20129283, PMID:21321465, PMID:22581653, PMID:23861362, PMID:24033266, PMID:24463578, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr10:82,770,905...82,785,142
Ensembl chr10:82,770,905...82,785,142
JBrowse link
G Sgcb sarcoglycan, beta ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr14:37,113,194...37,128,623
Ensembl chr14:37,113,210...37,128,737
JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:16155110, PMID:25741868, PMID:30311386, PMID:16155110 RGD:1580619 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:79,884,524...79,892,664
Ensembl chr 3:79,884,524...79,892,429
JBrowse link
G Slc9a1 solute carrier family 9 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19111554 NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:119,675,750...119,818,620
Ensembl chr 9:119,676,628...119,818,310
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:21387466, PMID:24033266, PMID:25741868 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
JBrowse link
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:79,918,127...79,937,708
Ensembl chr 3:79,918,969...79,938,301
JBrowse link
G Syt5 synaptotagmin 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:72,859,806...72,867,934
Ensembl chr 1:72,860,218...72,867,930
JBrowse link
G Tbca tubulin folding cofactor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr 2:24,449,498...24,505,351
Ensembl chr 2:24,449,485...24,505,334
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, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24037902, PMID:25741868, PMID:26084686, PMID:26350513, PMID:27532257, PMID:28492532 NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:30311386 NCBI chr18:56,081,863...56,115,719
Ensembl chr18:56,082,195...56,115,593
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:22134166 RGD:11073617 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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, PMID:30311386 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:15056834 RGD:1580653 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18313022, PMID:20010364, PMID:21214875, PMID:22458570, PMID:22725725, PMID:23671136, PMID:23810883, PMID:23812740, PMID:24125834, PMID:24598986, PMID:25343256, PMID:25741868, PMID:26513349, PMID:28491673, PMID:28492532, PMID:29040414, PMID:29980933, PMID:30700137 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
G Tmem86b transmembrane protein 86B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:72,784,147...72,807,768
Ensembl chr 1:72,784,966...72,787,367
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
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, PMID:23425245, PMID:24033266, PMID:24744096, PMID:25741868, PMID:26304555, PMID:26529187, PMID:26779504, PMID:26976709, PMID:27574918, PMID:27604170, PMID:27721798, PMID:28473771, PMID:28492532, PMID:28533433, PMID:30165862, PMID:11385718 RGD:1580739 NCBI chr16:7,292,207...7,295,238
Ensembl chr16:7,292,096...7,295,465
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar PMID:3144325, PMID:7592712, PMID:9241277, PMID:10098965, PMID:10731705, PMID:10806205, PMID:11055985, PMID:11724573, PMID:11735257, PMID:11801593, PMID:11815426, PMID:11853553, PMID:12044157, PMID:12531876, PMID:12707239, PMID:12746413, PMID:12860912, PMID:12974739, PMID:14575308, PMID:15070570, PMID:15201162, PMID:15519027, PMID:15524171, PMID:15607392, PMID:15631686, PMID:15698845, PMID:15718266, PMID:15774859, PMID:15961398, PMID:15992656, PMID:16020591, PMID:16199542, PMID:16274223, PMID:16288990, PMID:16335287, PMID:16352453, PMID:16531415, PMID:17010989, PMID:17027633, PMID:17463320, PMID:17599605, PMID:17872964, PMID:17932326, PMID:18006163, PMID:18175163, PMID:18269819, PMID:18403758, PMID:18408133, PMID:18409188, PMID:18414213, PMID:18423659, PMID:18430738, PMID:18467357, PMID:18533079, PMID:18548271, PMID:18801787, PMID:19033660, PMID:19035361, PMID:19289050, PMID:19449150, PMID:19645627, PMID:19651143, PMID:19754353, PMID:19914256, PMID:20031602, PMID:20031618, PMID:20035081, PMID:20057144, PMID:20161772, PMID:20215591, PMID:20350521, PMID:20474083, PMID:20530761, PMID:20569525, PMID:20617149, PMID:20624503, PMID:20641121, PMID:20800588, PMID:21239446, PMID:21310275, PMID:21483645, PMID:21511876, PMID:21533915, PMID:21777381, PMID:21799269, PMID:21839045, PMID:21896538, PMID:21967901, PMID:22112859, PMID:22301726, PMID:22361390, PMID:22429680, PMID:22464770, PMID:22675533, PMID:22765922, PMID:22876777, PMID:22958901, PMID:23270746, PMID:23283745, PMID:23396983, PMID:23540544, PMID:23610579, PMID:23690394, PMID:23785128, PMID:23906401, PMID:23967088, PMID:24033266, PMID:24111713, PMID:24113344, PMID:24474965, PMID:24503780, PMID:24510615, PMID:24704860, PMID:24793961, PMID:25086479, PMID:25132132, PMID:25228707, PMID:25239116, PMID:25324519, PMID:25342278, PMID:25351510, PMID:25440410, PMID:25524337, PMID:25558701, PMID:25611685, PMID:25741868, PMID:25940119, PMID:26169204, PMID:26199943, PMID:26440512, PMID:26506446, PMID:26688388, PMID:26741492, PMID:26914223, PMID:26936621, PMID:27532257, PMID:27557662, PMID:27600940, PMID:27895589, PMID:28138913, PMID:28166811, PMID:28193612, PMID:28356264, PMID:28382084, PMID:28408708, PMID:28436080, PMID:28492532, PMID:28498465, PMID:28771489, PMID:28790153, PMID:29121657, PMID:29176140, PMID:29255176, PMID:29661763, PMID:29710196, PMID:29907873, PMID:30165862, PMID:30384889, PMID:31568572, PMID:15698845 RGD:1580420 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hypertrophic myocardiopathy, UMLS MESH term: Hypertrophic Obstructive Cardiomyopathy
ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:72,889,270...72,899,629
Ensembl chr 1:72,889,270...72,899,659
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar
CTD
PMID:2003160, PMID:2946667, PMID:7898523, PMID:8205619, PMID:8951566, PMID:8958207, PMID:9060892, PMID:9140840, PMID:9201030, PMID:9637714, PMID:9788962, PMID:10085122, PMID:10405326, PMID:10449439, PMID:10521296, PMID:10525521, PMID:10529204, PMID:10610467, PMID:10617660, PMID:10850966, PMID:10978365, PMID:11034944, PMID:11060291, PMID:11060294, PMID:11113119, PMID:11158969, PMID:11346248, PMID:11432788, PMID:11560853, PMID:11606294, PMID:11968089, PMID:12084606, PMID:12186860, PMID:12409295, PMID:12473556, PMID:12707239, PMID:12818575, PMID:12860912, PMID:12881443, PMID:12974739, PMID:14563299, PMID:14636924, PMID:14640471, PMID:14654368, PMID:14722098, PMID:15246915, PMID:15542288, PMID:15563892, PMID:15568820, PMID:15631686, PMID:15958377, PMID:16115294, PMID:16115869, PMID:16199542, PMID:16326803, PMID:16715312, PMID:16777946, PMID:16858239, PMID:17101185, PMID:17456375, PMID:17612745, PMID:17932326, PMID:18029407, PMID:18258667, PMID:18403758, PMID:18533079, PMID:18651846, PMID:18809796, PMID:19033660, PMID:19087273, PMID:19150014, PMID:19487599, PMID:19880069, PMID:19914256, PMID:19996403, PMID:20031602, PMID:20031618, PMID:20038417, PMID:20159828, PMID:20414521, PMID:20439259, PMID:20513729, PMID:20624503, PMID:20800588, PMID:21185001, PMID:21245263, PMID:21310275, PMID:21511876, PMID:21683708, PMID:21846512, PMID:22144547, PMID:22321274, PMID:22334656, PMID:22500102, PMID:22579624, PMID:22675533, PMID:22857948, PMID:23074333, PMID:23233322, PMID:23283745, PMID:23396983, PMID:23494605, PMID:23663841, PMID:23674365, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24367593, PMID:24418317, PMID:24503780, PMID:24691700, PMID:24793961, PMID:25031304, PMID:25351510, PMID:25524337, PMID:25611685, PMID:25637381, PMID:25668678, PMID:25741868, PMID:25849606, PMID:26183555, PMID:26507537, PMID:26681313, PMID:26743238, PMID:26914223, PMID:27022107, PMID:27036851, PMID:27483260, PMID:27532257, PMID:27600940, PMID:27930701, PMID:28073646, PMID:28193612, PMID:28408708, PMID:28420666, PMID:28492532, PMID:28566242, PMID:28735292, PMID:28771489, PMID:28790153, PMID:28973951, PMID:29121657, PMID:30311386, PMID:12881443 RGD:1580440 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000973 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar PMID:07729014, PMID:07898523, PMID:08205619, PMID:08523464, PMID:08774330, PMID:09060904, PMID:9245729, PMID:9400381, PMID:09440709, PMID:09822100, PMID:10400910, PMID:10900175, PMID:11136687, PMID:11603924, PMID:11606294, PMID:11968089, PMID:12006676, PMID:12169652, PMID:12473556, PMID:12651045, PMID:12858563, PMID:12860912, PMID:12900417, PMID:14734051, PMID:15000344, PMID:15059934, PMID:15249230, PMID:15479242, PMID:16014439, PMID:16365313, PMID:16504640, PMID:18403758, PMID:18409188, PMID:18414213, PMID:18533079, PMID:19035361, PMID:19659763, PMID:20031602, PMID:20117437, PMID:20159828, PMID:20161772, PMID:20215591, PMID:20965760, PMID:21109227, PMID:21239446, PMID:21295541, PMID:21310275, PMID:21320446, PMID:21376702, PMID:21520333, PMID:21551322, PMID:21642532, PMID:21835320, PMID:21840315, PMID:22112859, PMID:22155441, PMID:22187526, PMID:22462493, PMID:22789852, PMID:22794249, PMID:22958901, PMID:23204897, PMID:23283745, PMID:23349452, PMID:23396983, PMID:23508784, PMID:23539503, PMID:23674513, PMID:23700264, PMID:23771913, PMID:24033266, PMID:24170035, PMID:24183960, PMID:24503780, PMID:24510615, PMID:24691700, PMID:24793961, PMID:25031304, PMID:25241052, PMID:25242052, PMID:25326635, PMID:25351510, PMID:25524337, PMID:25525159, PMID:25548289, PMID:25607779, PMID:25611685, PMID:25741868, PMID:26899768, PMID:26936621, PMID:26960954, PMID:27177193, PMID:27376658, PMID:27532257, PMID:27600940, PMID:27639548, PMID:28138913, PMID:28301460, PMID:28356264, PMID:28359939, PMID:28408708, PMID:28492532, PMID:28600229, PMID:28603979, PMID:28615295, PMID:28771489, PMID:28797094, PMID:29024827, PMID:29121657, PMID:29496559, PMID:29517769, PMID:29540472, PMID:29760186, PMID:30165862, PMID:30240712, PMID:30311386, PMID:31308319, PMID:31333075, PMID:31568572 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
G Trim63 tripartite motif containing 63 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:10953002, PMID:11243782, PMID:11679633, PMID:11927605, PMID:15596539, PMID:15601779, PMID:16477476, PMID:17272810, PMID:17786241, PMID:18157088, PMID:19498199, PMID:22821932, PMID:24436435, PMID:24865491, PMID:25801283, PMID:28492532 NCBI chr 5:152,533,362...152,547,138
Ensembl chr 5:152,533,349...152,547,179
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23382873, PMID:25741868, PMID:28492532 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar PMID:17344846, PMID:23396983, PMID:23861362, PMID:23975875, PMID:24033266, PMID:24271327, PMID:24440382, PMID:24503780, PMID:25163546, PMID:25447171, PMID:25589632, PMID:25741868, PMID:26383259, PMID:26467025, PMID:26498160, PMID:26516846, PMID:26559152, PMID:27930701, PMID:28492532, PMID:28600387, PMID:28750076, PMID:28771489, PMID:28822653, PMID:30311386, PMID:30993396, PMID:10462489 RGD:1580781 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:30311386 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
G Ucn urocortin ISO RGD PMID:14577573 RGD:1580792 NCBI chr 6:26,602,144...26,602,974
Ensembl chr 6:26,602,144...26,602,974
JBrowse link
G Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 8:117,679,328...117,691,073
Ensembl chr 8:117,679,278...117,691,071
JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:72,207,970...72,284,871
Ensembl chr 8:72,207,972...72,284,873
JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar PMID:16712796, PMID:23299917, PMID:24033266, PMID:24503780, PMID:25741868, PMID:27930701, PMID:28492532, PMID:29875424, PMID:16236538 RGD:1580356 NCBI chr15:3,455,211...3,544,738
Ensembl chr15:3,455,211...3,544,702
JBrowse link
G Xirp1 xin actin-binding repeat containing 1 ISS MouseDO NCBI chr 8:128,694,809...128,712,092
Ensembl chr 8:128,702,133...128,711,221
JBrowse link
G Yy1 YY1 transcription factor ISO RGD PMID:12754214 RGD:1580831 NCBI chr 6:132,702,443...132,726,848
Ensembl chr 6:132,702,448...132,727,046
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:30311386 NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737
JBrowse link
hypertrophic cardiomyopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar PMID:14567970, PMID:20022194, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25611685, PMID:25626705, PMID:25741868, PMID:26899768, PMID:27532257, PMID:27896284, PMID:28301460, PMID:28492532, PMID:29247119, PMID:30311386, PMID:30615648, PMID:30775854, PMID:31333075, PMID:31568572 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar PMID:19525294, PMID:23299917, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:26253506, PMID:28492532, PMID:30025578 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 OMIM
ClinVar
PMID:09536092, PMID:11251997, PMID:11884389, PMID:15580566, PMID:17060380, PMID:17210839, PMID:19380584, PMID:23465283, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26498160, PMID:27483260, PMID:27930701, PMID:28492532, PMID:29961767 NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:1560021, PMID:16483541, PMID:16793013, PMID:17116488, PMID:20171888, PMID:21920752, PMID:22106715, PMID:22995991, PMID:23194663, PMID:23299917, PMID:24033266, PMID:25208129, PMID:25741868, PMID:26694549, PMID:26961874, PMID:28492532 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:16352453, PMID:18505755, PMID:23299917, PMID:24033266, PMID:25741868, PMID:28492532, PMID:28790153 NCBI chr 1:104,147,205...104,166,389
Ensembl chr 1:104,147,206...104,166,367
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:28492532 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:7971964, PMID:17033975, PMID:20031616, PMID:20031617, PMID:20197793, PMID:20400443, PMID:20716751, PMID:20829228, PMID:21062920, PMID:21606390, PMID:21606396, PMID:21859740, PMID:23299917, PMID:23757202, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24967631, PMID:25351510, PMID:25447171, PMID:25637381, PMID:25741868, PMID:28255936, PMID:28492532 NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:17105751, PMID:18678517, PMID:19039334, PMID:20031616, PMID:20031617, PMID:20716751, PMID:20864495, PMID:21606390, PMID:23810883, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25741868, PMID:28492532 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar PMID:18632414, PMID:19924139, PMID:20738328, PMID:23381804, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24125834, PMID:24503780, PMID:24704780, PMID:25225338, PMID:25351510, PMID:25693453, PMID:25741868, PMID:26585738, PMID:28492532, PMID:30354334 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Asymmetric septal hypertrophy ClinVar NCBI chr  X:159,112,516...159,172,528
Ensembl chr  X:159,112,880...159,172,524
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Asymmetric septal hypertrophy ClinVar NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar PMID:2171331, PMID:8738659, PMID:9100224, PMID:9395081, PMID:9883849, PMID:10208848, PMID:10838196, PMID:10916280, PMID:11322659, PMID:11668641, PMID:11688386, PMID:12428061, PMID:15702404, PMID:15806320, PMID:16533976, PMID:16595074, PMID:16773563, PMID:17040996, PMID:17532296, PMID:17804462, PMID:18154965, PMID:18596132, PMID:20031620, PMID:20360539, PMID:20505683, PMID:21549080, PMID:21598360, PMID:22241068, PMID:22805550, PMID:23219219, PMID:23378663, PMID:23430526, PMID:23935525, PMID:24033266, PMID:24082139, PMID:24380807, PMID:24386359, PMID:24784157, PMID:25040344, PMID:25382311, PMID:25741868, PMID:26415523, PMID:27142856, PMID:27356758, PMID:27560961, PMID:27979989, PMID:28253518, PMID:28492532, PMID:28799081, PMID:29794742, PMID:29867742, PMID:29982630 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:15140536, PMID:17967976, PMID:19606473, PMID:19815826, PMID:22995991, PMID:23465283, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24715918, PMID:25741868, PMID:25998140, PMID:28492532, PMID:28837624 NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
JBrowse link
G Ilk integrin-linked kinase ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:28492532 NCBI chr 1:170,578,941...170,585,192
Ensembl chr 1:170,578,889...170,585,189
JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:17509612, PMID:25741868 NCBI chr 3:159,709,998...159,776,536
Ensembl chr 3:159,712,325...159,775,643
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:21859740, PMID:23861362, PMID:24033266, PMID:25741868, PMID:27662471, PMID:28492532, PMID:28831623, PMID:30311386 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:28492532 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar PMID:10580070, PMID:16407522, PMID:16585054, PMID:20627339, PMID:22071332, PMID:23142632, PMID:24033266, PMID:24503780, PMID:24846508, PMID:25741868, PMID:27532257, PMID:27760138, PMID:28492532, PMID:28518168, PMID:28663758, PMID:28679633, PMID:29095976, PMID:29237690 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: CMH
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Asymmetric septal hypertrophy
ClinVar Annotator: match by term: HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
ClinVar PMID:1853307, PMID:2073894, PMID:2561168, PMID:2943217, PMID:7493025, PMID:7493026, PMID:9048664, PMID:9503187, PMID:9541104, PMID:9562578, PMID:9631872, PMID:9742053, PMID:10521296, PMID:10610770, PMID:10736283, PMID:11499718, PMID:11499719, PMID:11815426, PMID:11847170, PMID:12110947, PMID:12117842, PMID:12202917, PMID:12386147, PMID:12403824, PMID:12566107, PMID:12628722, PMID:12707239, PMID:12818575, PMID:12951062, PMID:12974739, PMID:14563344, PMID:15010274, PMID:15114369, PMID:15115610, PMID:15166115, PMID:15519027, PMID:15563892, PMID:15769446, PMID:15823648, PMID:15936968, PMID:16004897, PMID:16181148, PMID:16199542, PMID:16267253, PMID:16335287, PMID:16566405, PMID:16651346, PMID:16679492, PMID:16715312, PMID:16754800, PMID:16831826, PMID:16858239, PMID:17560888, PMID:17908752, PMID:18374358, PMID:18403758, PMID:18409188, PMID:18414213, PMID:18533079, PMID:18713777, PMID:18761664, PMID:18809796, PMID:18926831, PMID:18929575, PMID:18957093, PMID:19035361, PMID:19134269, PMID:19150014, PMID:19273718, PMID:19293840, PMID:19356534, PMID:19574547, PMID:19590044, PMID:19659763, PMID:19808356, PMID:19996403, PMID:20019025, PMID:20031602, PMID:20031618, PMID:20045868, PMID:20051424, PMID:20159828, PMID:20173211, PMID:20215591, PMID:20359594, PMID:20378854, PMID:20414521, PMID:20433692, PMID:20435227, PMID:20439259, PMID:20474083, PMID:20505798, PMID:20530761, PMID:20624503, PMID:20738943, PMID:20800588, PMID:20818890, PMID:20864638, PMID:21088121, PMID:21185001, PMID:21239446, PMID:21252143, PMID:21297165, PMID:21302287, PMID:21310275, PMID:21415409, PMID:21424860, PMID:21472310, PMID:21488307, PMID:21499742, PMID:21511876, PMID:21551322, PMID:21638988, PMID:21750094, PMID:21832025, PMID:21832052, PMID:21835320, PMID:21839045, PMID:21959974, PMID:21985754, PMID:22057632, PMID:22115648, PMID:22177269, PMID:22194935, PMID:22267749, PMID:22337857, PMID:22361390, PMID:22386539, PMID:22429680, PMID:22455086, PMID:22462493, PMID:22464770, PMID:22555271, PMID:22563033, PMID:22569109, PMID:22574137, PMID:22589294, PMID:22763267, PMID:22765922, PMID:22857948, PMID:22907696, PMID:22958901, PMID:22995991, PMID:23054336, PMID:23074333, PMID:23140321, PMID:23164068, PMID:23197398, PMID:23217326, PMID:23233322, PMID:23283745, PMID:23299917, PMID:23348723, PMID:23349452, PMID:23396983, PMID:23418287, PMID:23527136, PMID:23534983, PMID:23549607, PMID:23642604, PMID:23674513, PMID:23690394, PMID:23782526, PMID:23820649, PMID:23840593, PMID:23861362, PMID:23980194, PMID:24033266, PMID:24055113, PMID:24062880, PMID:24083979, PMID:24093860, PMID:24111713, PMID:24113344, PMID:24119082, PMID:24503780, PMID:24510615, PMID:24602869, PMID:24621997, PMID:24704860, PMID:24721642, PMID:24774285, PMID:24774606, PMID:24793961, PMID:24795128, PMID:24810389, PMID:24835277, PMID:24865491, PMID:25031304, PMID:25037680, PMID:25058872, PMID:25078086, PMID:25086479, PMID:25163546, PMID:25214167, PMID:25262865, PMID:25335496, PMID:25342278, PMID:25351510, PMID:25377941, PMID:25447171, PMID:25524337, PMID:25525159, PMID:25558701, PMID:25569433, PMID:25611685, PMID:25631583, PMID:25637381, PMID:25740977, PMID:25741868, PMID:25971843, PMID:26090888, PMID:26178432, PMID:26189708, PMID:26267065, PMID:26332198, PMID:26332594, PMID:26458567, PMID:26467025, PMID:26654849, PMID:26671970, PMID:26688216, PMID:26822237, PMID:26914223, PMID:26936621, PMID:27000522, PMID:27096365, PMID:27108529, PMID:27153395, PMID:27194543, PMID:27267291, PMID:27418595, PMID:27435932, PMID:27483260, PMID:27532257, PMID:27561770, PMID:27576561, PMID:27600940, PMID:27650965, PMID:27688314, PMID:27737317, PMID:27831900, PMID:27834932, PMID:27841901, PMID:27896284, PMID:27930701, PMID:28024942, PMID:28087566, PMID:28166282, PMID:28193612, PMID:28214152, PMID:28323875, PMID:28356264, PMID:28408708, PMID:28416588, PMID:28420666, PMID:28436997, PMID:28492532, PMID:28498465, PMID:28518168, PMID:28538763, PMID:28615295, PMID:28679633, PMID:28771489, PMID:28790153, PMID:28794111, PMID:28807990, PMID:28971120, PMID:29029073, PMID:29030401, PMID:29121657, PMID:29212898, PMID:29247119, PMID:29367541, PMID:29451820, PMID:29540445, PMID:29555771, PMID:29663722, PMID:29875314, PMID:29875424, PMID:30165862, PMID:30311386, PMID:30645170, PMID:30762279, PMID:31333075, PMID:31568572, PMID:397516074 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by OMIM:192600
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15998695, PMID:16858239, PMID:20031618, PMID:20173211, PMID:20215591, PMID:20359594, PMID:20656787, PMID:21302287, PMID:21483645, PMID:21835320, PMID:22194935, PMID:22361390, PMID:23299917, PMID:23674513, PMID:23861362, PMID:24033266, PMID:24119082, PMID:25163546, PMID:25351510, PMID:25741868, PMID:26656175, PMID:27194543, PMID:27789736, PMID:28088328, PMID:28492532, PMID:28600387, PMID:28771489, PMID:28797094, PMID:28991257, PMID:29332214 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by OMIM:192600
OMIM
ClinVar
PMID:1361491, PMID:1423936, PMID:1430197, PMID:1472461, PMID:1552912, PMID:1634614, PMID:1638703, PMID:1739523, PMID:1944483, PMID:1975517, PMID:1975599, PMID:2136805, PMID:2249844, PMID:2790153, PMID:3203908, PMID:4104682, PMID:7581410, PMID:7662452, PMID:7731997, PMID:7786104, PMID:7788887, PMID:7789380, PMID:7796500, PMID:7848420, PMID:7848441, PMID:7874131, PMID:7883988, PMID:7909436, PMID:7994801, PMID:8186698, PMID:8250038, PMID:8254035, PMID:8268932, PMID:8281650, PMID:8282798, PMID:8335820, PMID:8343162, PMID:8435239, PMID:8483915, PMID:8490051, PMID:8514894, PMID:8533830, PMID:8614836, PMID:8655135, PMID:8788376, PMID:8898372, PMID:8981935, PMID:9001794, PMID:9058851, PMID:9062359, PMID:9105042, PMID:9140824, PMID:9140839, PMID:9154300, PMID:9172070, PMID:9271024, PMID:9541509, PMID:9544842, PMID:9822100, PMID:9826622, PMID:9829907, PMID:9835779, PMID:9874056, PMID:9884344, PMID:10024460, PMID:10065021, PMID:10086390, PMID:10328076, PMID:10424815, PMID:10521296, PMID:10563488, PMID:10567705, PMID:10606622, PMID:10662815, PMID:10725281, PMID:10750581, PMID:10764406, PMID:10862102, PMID:10874840, PMID:10882745, PMID:10900182, PMID:10957787, PMID:11113006, PMID:11133230, PMID:11186938, PMID:11196015, PMID:11227787, PMID:11377367, PMID:11424919, PMID:11433818, PMID:11447480, PMID:11498078, PMID:11723028, PMID:11733062, PMID:11861410, PMID:11861413, PMID:11904418, PMID:11968089, PMID:12081993, PMID:12084606, PMID:12117842, PMID:12379228, PMID:12473556, PMID:12566107, PMID:12601548, PMID:12707239, PMID:12749056, PMID:12818575, PMID:12820698, PMID:12881443, PMID:12951062, PMID:12953063, PMID:12974739, PMID:12975413, PMID:13732753, PMID:15000344, PMID:15001446, PMID:15008060, PMID:15010274, PMID:15114369, PMID:15136674, PMID:15322983, PMID:15358028, PMID:15483641, PMID:15519027, PMID:15528230, PMID:15550524, PMID:15556047, PMID:15563892, PMID:15757018, PMID:15769782, PMID:15856146, PMID:15858117, PMID:16115294, PMID:16137545, PMID:16199542, PMID:16253604, PMID:16267253, PMID:16335287, PMID:16352453, PMID:16504640, PMID:16630449, PMID:16630450, PMID:16650083, PMID:16684601, PMID:16715312, PMID:16754800, PMID:16858239, PMID:16918501, PMID:16938236, PMID:17097032, PMID:17125710, PMID:17180650, PMID:17192269, PMID:17336526, PMID:17351073, PMID:17372140, PMID:17383184, PMID:17438619, PMID:17476457, PMID:17495353, PMID:17548557, PMID:17560888, PMID:17599605, PMID:17612745, PMID:17703256, PMID:17947214, PMID:17987111, PMID:18020371, PMID:18029407, PMID:18076673, PMID:18175163, PMID:18258667, PMID:18374998, PMID:18383048, PMID:18403758, PMID:18409188, PMID:18411228, PMID:18414213, PMID:18506004, PMID:18533079, PMID:18555187, PMID:18565996, PMID:18761664, PMID:18953637, PMID:19134269, PMID:19138847, PMID:19149795, PMID:19150014, PMID:19336582, PMID:19412328, PMID:19645038, PMID:19651039, PMID:19659763, PMID:19666645, PMID:19808347, PMID:19808356, PMID:19864899, PMID:19880069, PMID:20031602, PMID:20031618, PMID:20075948, PMID:20086309, PMID:20215591, PMID:20298698, PMID:20309391, PMID:20350521, PMID:20359594, PMID:20378854, PMID:20394946, PMID:20428263, PMID:20439259, PMID:20474083, PMID:20513729, PMID:20624503, PMID:20641121, PMID:20646679, PMID:20664766, PMID:20733148, PMID:20738943, PMID:20800588, PMID:20811150, PMID:20817590, PMID:20819418, PMID:20865685, PMID:20965760, PMID:20975235, PMID:20981092, PMID:21127202, PMID:21216834, PMID:21239280, PMID:21239446, PMID:21252143, PMID:21302287, PMID:21310275, PMID:21425739, PMID:21426742, PMID:21499742, PMID:21511876, PMID:21551322, PMID:21576279, PMID:21642240, PMID:21674835, PMID:21750094, PMID:21769673, PMID:21799269, PMID:21811976, PMID:21835320, PMID:21839045, PMID:21896538, PMID:21943931, PMID:21958740, PMID:21959974, PMID:22112859, PMID:22213221, PMID:22260945, PMID:22337857, PMID:22429680, PMID:22455086, PMID:22464770, PMID:22555271, PMID:22735528, PMID:22763267, PMID:22765922, PMID:22784669, PMID:22811549, PMID:22857948, PMID:22918376, PMID:22958901, PMID:23054336, PMID:23074333, PMID:23140321, PMID:23197161, PMID:23233322, PMID:23271734, PMID:23281406, PMID:23283745, PMID:23290139, PMID:23299917, PMID:23318932, PMID:23349452, PMID:23396983, PMID:23403236, PMID:23408646, PMID:23426552, PMID:23508784, PMID:23549607, PMID:23580644, PMID:23674513, PMID:23690394, PMID:23707328, PMID:23711808, PMID:23712688, PMID:23751935, PMID:23782526, PMID:23785128, PMID:23794396, PMID:23798412, PMID:23816408, PMID:23861362, PMID:24033266, PMID:24047955, PMID:24093860, PMID:24111713, PMID:24119082, PMID:24183960, PMID:24268868, PMID:24298987, PMID:24344137, PMID:24498601, PMID:24503780, PMID:24510615, PMID:24621997, PMID:24664454, PMID:24691700, PMID:24704860, PMID:24721642, PMID:24749114, PMID:24793961, PMID:24829265, PMID:24835277, PMID:24865491, PMID:24888384, PMID:24928957, PMID:25031304, PMID:25078086, PMID:25086479, PMID:25125180, PMID:25132132, PMID:25163446, PMID:25163546, PMID:25228707, PMID:25239116, PMID:25326637, PMID:25327599, PMID:25342278, PMID:25346696, PMID:25351510, PMID:25467552, PMID:25524337, PMID:25558701, PMID:25611685, PMID:25637381, PMID:25649125, PMID:25666907, PMID:25714468, PMID:25741868, PMID:25892673, PMID:25935763, PMID:25937619, PMID:25961035, PMID:26187847, PMID:26220970, PMID:26332594, PMID:26446785, PMID:26458567, PMID:26467025, PMID:26468400, PMID:26497160, PMID:26573135, PMID:26627873, PMID:26688388, PMID:26743238, PMID:26846766, PMID:26912705, PMID:26914223, PMID:26936621, PMID:26969127, PMID:26969327, PMID:27000522, PMID:27066506, PMID:27066507, PMID:27082122, PMID:27153395, PMID:27161882, PMID:27247418, PMID:27460395, PMID:27483260, PMID:27532257, PMID:27574918, PMID:27576561, PMID:27600940, PMID:27688314, PMID:27707468, PMID:27737317, PMID:27788187, PMID:27831900, PMID:27841901, PMID:27854218, PMID:27884173, PMID:27885498, PMID:27930701, PMID:27974200, PMID:28087426, PMID:28125727, PMID:28138913, PMID:28193612, PMID:28202948, PMID:28241245, PMID:28246639, PMID:28265379, PMID:28296734, PMID:28356264, PMID:28408708, PMID:28420666, PMID:28481356, PMID:28492532, PMID:28498465, PMID:28518168, PMID:28588093, PMID:28606303, PMID:28611029, PMID:28615295, PMID:28640247, PMID:28687478, PMID:28704380, PMID:28771489, PMID:28790153, PMID:28794111, PMID:28798025, PMID:28807990, PMID:28878402, PMID:28971120, PMID:28973424, PMID:28986452, PMID:29029073, PMID:29030401, PMID:29101517, PMID:29121657, PMID:29169752, PMID:29178653, PMID:29212898, PMID:29300372, PMID:29343710, PMID:29540472, PMID:29661763, PMID:29875424, PMID:29907873, PMID:29970176, PMID:30022097, PMID:30206291, PMID:30217213, PMID:30275503, PMID:30297972, PMID:30311386, PMID:30511546, PMID:30775854, PMID:30868567, PMID:30871747, PMID:31112422, PMID:31130376, PMID:31333075, PMID:31568572 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar NCBI chr 3:151,105,038...151,150,621
Ensembl chr 3:151,126,591...151,150,344
JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar PMID:08673105, PMID:09535554, PMID:11102452, PMID:11748309, PMID:12404107, PMID:12668451, PMID:12707239, PMID:12818575, PMID:14594949, PMID:15483641, PMID:15706574, PMID:16837010, PMID:18506004, PMID:18533079, PMID:18929571, PMID:19150977, PMID:20173211, PMID:20855589, PMID:21310275, PMID:21415409, PMID:21723297, PMID:21835320, PMID:22091967, PMID:22260945, PMID:22797899, PMID:22958901, PMID:23197161, PMID:23283745, PMID:23299917, PMID:23343568, PMID:23396983, PMID:23727233, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24111713, PMID:25324513, PMID:25333069, PMID:25351510, PMID:25524337, PMID:25637381, PMID:25741868, PMID:26116789, PMID:26187847, PMID:26284228, PMID:26664906, PMID:26914223, PMID:27153395, PMID:27435932, PMID:27483260, PMID:27532257, PMID:27600940, PMID:28223422, PMID:28467684, PMID:28492532, PMID:28771489, PMID:29398688, PMID:29452157, PMID:29710196, PMID:30403391, PMID:30430732 NCBI chr12:39,951,863...39,959,065
Ensembl chr12:39,951,987...39,958,239
JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar PMID:8673105, PMID:11174330, PMID:12021217, PMID:16754800, PMID:20641121, PMID:21239446, PMID:21823217, PMID:22131351, PMID:22958901, PMID:23283745, PMID:23396983, PMID:23426552, PMID:23549607, PMID:23594557, PMID:23748425, PMID:24033266, PMID:24111713, PMID:25132132, PMID:25342278, PMID:25351510, PMID:25637381, PMID:25741868, PMID:25910212, PMID:26633542, PMID:27483260, PMID:27532257, PMID:27574918, PMID:28356264, PMID:28371863, PMID:28492532, PMID:28518168, PMID:28658286, PMID:28771489, PMID:28971120, PMID:29669825, PMID:29710196, PMID:29914921, PMID:30297972, PMID:30706179, PMID:31110529, PMID:31199839 NCBI chr 8:119,030,852...119,036,996
Ensembl chr 8:119,030,875...119,036,996
JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar Annotator: match by OMIM:192600
OMIM
ClinVar
PMID:11733062, PMID:22995991, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr 3:148,386,185...148,397,851
Ensembl chr 3:148,386,189...148,399,501
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868, PMID:28492532 NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar PMID:25741868, PMID:28492532, PMID:28798025 NCBI chr 2:257,452,937...257,484,607
Ensembl chr 2:257,453,347...257,484,587
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:19955750, PMID:20031616, PMID:20031617, PMID:20152563, PMID:20857253, PMID:21062920, PMID:21606390, PMID:23299917, PMID:23861362, PMID:24033266, PMID:25741868, PMID:26676851, PMID:28492532, PMID:31539150 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar PMID:10355918, PMID:10820940, PMID:11407343, PMID:11827995, PMID:14722619, PMID:15611370, PMID:15673802, PMID:16836667, PMID:17483151, PMID:17711718, PMID:19808419, PMID:20031621, PMID:20381067, PMID:20888928, PMID:23778007, PMID:23829931, PMID:23992123, PMID:24033266, PMID:25741868, PMID:25997934, PMID:27532257, PMID:28431061, PMID:28492532, PMID:28917552, PMID:29298659, PMID:30311386 NCBI chr 4:6,559,153...6,799,888
Ensembl chr 4:6,559,545...6,799,632
JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar PMID:16523510, PMID:17603482, PMID:17603483, PMID:17603487, PMID:17603489, PMID:18241070, PMID:18505544, PMID:19437094, PMID:19933846, PMID:19953625, PMID:20052757, PMID:20679480, PMID:20683980, PMID:20876176, PMID:21339642, PMID:21396583, PMID:21784453, PMID:22389993, PMID:22465605, PMID:22781091, PMID:22826437, PMID:23321623, PMID:23613113, PMID:23877478, PMID:24033266, PMID:24777450, PMID:24803665, PMID:25741868, PMID:26266034, PMID:26446362, PMID:26903553, PMID:26918529, PMID:28492532, PMID:29948256 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:274,391,932...274,589,816
Ensembl chr 1:274,391,932...274,589,816
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:8661019, PMID:11823453, PMID:12639704, PMID:15121794, PMID:15689442, PMID:15851227, PMID:15851440, PMID:15992732, PMID:16155735, PMID:16568155, PMID:16707561, PMID:17210839, PMID:17605181, PMID:17905336, PMID:18245395, PMID:18378609, PMID:18976777, PMID:19841300, PMID:20129283, PMID:20981092, PMID:22378279, PMID:22519808, PMID:22581653, PMID:22682427, PMID:23465283, PMID:23853484, PMID:23861362, PMID:24033266, PMID:24784157, PMID:25051102, PMID:25741868, PMID:26131924, PMID:26159999, PMID:26467025, PMID:27153395, PMID:28472724, PMID:28491758, PMID:28492532, PMID:28493952, PMID:28498465, PMID:28638671, PMID:29672598, PMID:29997009, PMID:30079003, PMID:30146492, PMID:30419068 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:23861362, PMID:24033266, PMID:28492532 NCBI chr10:32,062,946...32,471,454
Ensembl chr10:32,062,946...32,471,454
JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:28492532 NCBI chr 1:170,585,160...170,586,428
Ensembl chr 1:170,585,167...170,586,603
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar PMID:16911908, PMID:18414213, PMID:18585512, PMID:19035361, PMID:19412328, PMID:20215591, PMID:20474083, PMID:22194935, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24037902, PMID:24503780, PMID:25741868, PMID:26084686, PMID:26332198, PMID:26350513, PMID:26467025, PMID:27532257, PMID:28492532, PMID:30311386, PMID:30871747 NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar PMID:3144325, PMID:9241277, PMID:10098965, PMID:10806205, PMID:11735257, PMID:12531876, PMID:12707239, PMID:12860912, PMID:15070570, PMID:15607392, PMID:15698845, PMID:15961398, PMID:15992656, PMID:16020591, PMID:16199542, PMID:16352453, PMID:16531415, PMID:17027633, PMID:17463320, PMID:18408133, PMID:18423659, PMID:19289050, PMID:19449150, PMID:20161772, PMID:20350521, PMID:20474083, PMID:20624503, PMID:20641121, PMID:20800588, PMID:21239446, PMID:21310275, PMID:21511876, PMID:21533915, PMID:21799269, PMID:21839045, PMID:21896538, PMID:21967901, PMID:22301726, PMID:22429680, PMID:22464770, PMID:22675533, PMID:22876777, PMID:23270746, PMID:23283745, PMID:23540544, PMID:23610579, PMID:23906401, PMID:23967088, PMID:24033266, PMID:24111713, PMID:24113344, PMID:24474965, PMID:24503780, PMID:24510615, PMID:25132132, PMID:25228707, PMID:25342278, PMID:25351510, PMID:25440410, PMID:25524337, PMID:25611685, PMID:25741868, PMID:25940119, PMID:26169204, PMID:26440512, PMID:26741492, PMID:27532257, PMID:27600940, PMID:28138913, PMID:28166811, PMID:28193612, PMID:28356264, PMID:28492532, PMID:28771489, PMID:28790153 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: CMH
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar PMID:2946667, PMID:7898523, PMID:8205619, PMID:8951566, PMID:9060892, PMID:9154300, PMID:9201030, PMID:10085122, PMID:10405326, PMID:10467159, PMID:10497196, PMID:10521296, PMID:10525521, PMID:10610467, PMID:10617660, PMID:10978365, PMID:11346248, PMID:11432788, PMID:11560853, PMID:11606294, PMID:11968089, PMID:12084606, PMID:12707239, PMID:12818575, PMID:12860912, PMID:12881443, PMID:12974739, PMID:14563299, PMID:14636924, PMID:14640471, PMID:14654368, PMID:14722098, PMID:15246915, PMID:15519027, PMID:15542288, PMID:15958377, PMID:16115294, PMID:16115869, PMID:16199542, PMID:16326803, PMID:16715312, PMID:16777946, PMID:17101185, PMID:17612745, PMID:18029407, PMID:18403758, PMID:18533079, PMID:19033660, PMID:19035361, PMID:19150014, PMID:19275886, PMID:19412328, PMID:19880069, PMID:19914256, PMID:20031601, PMID:20031602, PMID:20031618, PMID:20038417, PMID:20057144, PMID:20215591, PMID:20414521, PMID:20624503, PMID:20800588, PMID:21310275, PMID:21483645, PMID:21511876, PMID:21683708, PMID:21846512, PMID:22112859, PMID:22144547, PMID:22321274, PMID:22334656, PMID:22500102, PMID:22579624, PMID:22857948, PMID:23074333, PMID:23233322, PMID:23283745, PMID:23494605, PMID:23711808, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24111713, PMID:24418317, PMID:24503780, PMID:24721642, PMID:24793961, PMID:25086479, PMID:25351510, PMID:25524337, PMID:25611685, PMID:25637381, PMID:25668678, PMID:25741868, PMID:26183555, PMID:26468400, PMID:26507537, PMID:26633542, PMID:26681313, PMID:26688388, PMID:26743238, PMID:26914223, PMID:27022107, PMID:27074551, PMID:27082122, PMID:27483260, PMID:27493864, PMID:27532257, PMID:27600940, PMID:27930701, PMID:28193612, PMID:28356264, PMID:28408708, PMID:28492532, PMID:28771489, PMID:28973083, PMID:29121657, PMID:29661763, PMID:29907873, PMID:30165862, PMID:30311386 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar PMID:07729014, PMID:07898523, PMID:08205619, PMID:08523464, PMID:08774330, PMID:09060904, PMID:9245729, PMID:09440709, PMID:09822100, PMID:10400910, PMID:10900175, PMID:11606294, PMID:11968089, PMID:12473556, PMID:12860912, PMID:14734051, PMID:15000344, PMID:16014439, PMID:16504640, PMID:18403758, PMID:18533079, PMID:19035361, PMID:20965760, PMID:21109227, PMID:21239446, PMID:21295541, PMID:21320446, PMID:21376702, PMID:21835320, PMID:22112859, PMID:22155441, PMID:22187526, PMID:22462493, PMID:22789852, PMID:22794249, PMID:23204897, PMID:23508784, PMID:23700264, PMID:24033266, PMID:25524337, PMID:25548289, PMID:25607779, PMID:25741868, PMID:26936621, PMID:27532257, PMID:27600940, PMID:28138913, PMID:28492532, PMID:29121657, PMID:29760186, PMID:30165862, PMID:30240712, PMID:30311386, PMID:31308319 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar PMID:23396983, PMID:23861362, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28045975, PMID:28492532, PMID:30311386 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:1355416, PMID:1850190, PMID:1997217, PMID:2174830, PMID:2590199, PMID:6736244, PMID:7923855, PMID:8102146, PMID:9090525, PMID:14640030, PMID:15185492, PMID:19428025, PMID:22332999, PMID:24033266, PMID:24955979, PMID:25741868, PMID:28492532 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar NCBI chr11:86,667,994...86,716,063
Ensembl chr11:86,667,997...86,716,254
JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:20474083, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25351510, PMID:26656175, PMID:28492532 NCBI chr15:3,455,211...3,544,738
Ensembl chr15:3,455,211...3,544,702
JBrowse link
hypertrophic cardiomyopathy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 10
ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2
ClinVar Annotator: match by term: Familial isolated restrictive cardiomyopathy
ClinVar Annotator: match by OMIM:608758
OMIM
ClinVar
PMID:8673105, PMID:09535554, PMID:9724616, PMID:10948063, PMID:11102452, PMID:11748309, PMID:12404107, PMID:12668451, PMID:12707239, PMID:12818575, PMID:14594949, PMID:15483641, PMID:15706574, PMID:16076902, PMID:16751284, PMID:16837010, PMID:17606808, PMID:18506004, PMID:18533079, PMID:18929571, PMID:19150977, PMID:20173211, PMID:20855589, PMID:21310275, PMID:21415409, PMID:21723297, PMID:21823217, PMID:21835320, PMID:21896538, PMID:22091967, PMID:22260945, PMID:22797899, PMID:22958901, PMID:23197161, PMID:23283745, PMID:23299917, PMID:23343568, PMID:23365102, PMID:23396983, PMID:23727233, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24111713, PMID:24793961, PMID:25031304, PMID:25132132, PMID:25324513, PMID:25333069, PMID:25342278, PMID:25351510, PMID:25524337, PMID:25611685, PMID:25637381, PMID:25741868, PMID:26116789, PMID:26187847, PMID:26284228, PMID:26497160, PMID:26656175, PMID:26664906, PMID:26914223, PMID:26936621, PMID:27153395, PMID:27378946, PMID:27435932, PMID:27483260, PMID:27532257, PMID:27600940, PMID:28138913, PMID:28223422, PMID:28467684, PMID:28492532, PMID:28611029, PMID:28771489, PMID:28855170, PMID:29099038, PMID:29398688, PMID:29452157, PMID:29710196, PMID:30403391, PMID:30430732 NCBI chr12:39,951,863...39,959,065
Ensembl chr12:39,951,987...39,958,239
JBrowse link
hypertrophic cardiomyopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 11
ClinVar Annotator: match by OMIM:612098
OMIM
ClinVar
PMID:9563954, PMID:10330430, PMID:10494087, PMID:10966831, PMID:11052860, PMID:12860912, PMID:14729850, PMID:15058760, PMID:16267253, PMID:16611632, PMID:17611253, PMID:17623677, PMID:17916152, PMID:17947298, PMID:18379140, PMID:18400036, PMID:18403758, PMID:18506004, PMID:18519860, PMID:18801786, PMID:19184181, PMID:19467449, PMID:19562689, PMID:19799913, PMID:20497191, PMID:20965760, PMID:21297463, PMID:21524215, PMID:21551322, PMID:21622575, PMID:21839045, PMID:22555271, PMID:22563033, PMID:22590617, PMID:23054336, PMID:23283745, PMID:24033266, PMID:24736382, PMID:24793351, PMID:25239116, PMID:25741868, PMID:27532257, PMID:28138913, PMID:28356264, PMID:28416588, PMID:28492532, PMID:28790153, PMID:28798025, PMID:28973083, PMID:29121657, PMID:30600190 NCBI chr 3:105,507,403...105,512,939
Ensembl chr 3:105,507,403...105,512,939
JBrowse link
hypertrophic cardiomyopathy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 12
ClinVar Annotator: match by OMIM:612124
OMIM
ClinVar
PMID:9039266, PMID:12507422, PMID:12642359, PMID:14567970, PMID:15781201, PMID:16352453, PMID:17084280, PMID:18505755, PMID:19035361, PMID:20044516, PMID:20474083, PMID:21425739, PMID:22337857, PMID:22429680, PMID:23299917, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24082139, PMID:24503780, PMID:25351510, PMID:25741868, PMID:26656175, PMID:27353086, PMID:27532257, PMID:28492532, PMID:28790153, PMID:30012424, PMID:30048712 NCBI chr 1:104,147,205...104,166,389
Ensembl chr 1:104,147,206...104,166,367
JBrowse link
hypertrophic cardiomyopathy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnc1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 13
ClinVar Annotator: match by OMIM:613243
OMIM
ClinVar
PMID:11385718, PMID:16302972, PMID:18042489, PMID:18063575, PMID:18285522, PMID:18572189, PMID:18820258, PMID:19439414, PMID:19506933, PMID:20215591, PMID:20459070, PMID:21056975, PMID:21832052, PMID:22489623, PMID:22815480, PMID:23008774, PMID:23425245, PMID:23633581, PMID:24033266, PMID:24260207, PMID:24744096, PMID:25741868, PMID:26304555, PMID:26341255, PMID:26529187, PMID:26779504, PMID:26976709, PMID:27574918, PMID:27604170, PMID:27721798, PMID:28473771, PMID:28492532, PMID:28530094, PMID:28533433, PMID:28798025 NCBI chr16:7,292,207...7,295,238
Ensembl chr16:7,292,096...7,295,465
JBrowse link
hypertrophic cardiomyopathy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 ClinVar PMID:25741868 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 ClinVar PMID:28492532 NCBI chr15:33,639,510...33,639,621
Ensembl chr15:33,639,510...33,639,621
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14
ClinVar Annotator: match by OMIM:613251
OMIM
ClinVar
PMID:2969919, PMID:7731997, PMID:8282798, PMID:8878443, PMID:9172070, PMID:11815426, PMID:14573521, PMID:15998695, PMID:19808347, PMID:19864899, PMID:20215591, PMID:20656787, PMID:21378987, PMID:21483645, PMID:22011241, PMID:22194935, PMID:22361390, PMID:22955375, PMID:23299917, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24082139, PMID:24119082, PMID:24120998, PMID:24503780, PMID:25163546, PMID:25351510, PMID:25447171, PMID:25467552, PMID:25500235, PMID:25717017, PMID:25741868, PMID:25931334, PMID:26085007, PMID:26284702, PMID:26350513, PMID:26383259, PMID:26573135, PMID:26656175, PMID:27194543, PMID:27483260, PMID:27600940, PMID:27607113, PMID:27707468, PMID:27760138, PMID:27789736, PMID:28082330, PMID:28087566, PMID:28088328, PMID:28323875, PMID:28416588, PMID:28492532, PMID:28600387, PMID:28611029, PMID:28771489, PMID:28797094, PMID:28991257, PMID:29247119, PMID:29332214, PMID:29517769, PMID:29590334, PMID:29907873, PMID:30762279, PMID:31308319 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 ClinVar PMID:28492532 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
hypertrophic cardiomyopathy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G