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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:familial hypertrophic cardiomyopathy
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Accession:DOID:0080326 term browser browse the term
Definition:An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY. It results from any of more than 50 mutations involving genes encoding contractile proteins such as VENTRICULAR MYOSINS; cardiac TROPONIN T; ALPHA-TROPOMYOSIN.
Synonyms:exact_synonym: familial asymmetric septal hypertrophy;   familial hypertrophic cardiomyopathies;   familial ventricular hypertrophies;   familial ventricular hypertrophy;   hereditary ventricular hypertrophies;   hereditary ventricular hypertrophy;   obstructive asymmetric septal hypertrophy;   primary familial hypertrophic cardiomyopathy
 narrow_synonym: CARDIOMYOPATHY, HYPERTROPHIC, MITOCHONDRIAL;   CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL
 primary_id: MESH:D024741
 alt_id: RDO:0003773
 xref: ORDO:217569
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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:missense mutations, nonsense mutations: :multiple
DNA:missense mutations: :p.V771M, p.V342D, p.A627V (human)
DNA:nonsense mutation, splice-site mutation, deletion:exon, intron: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:9562578, PMID:16004897, PMID:12110947 RGD:1580239, RGD:1580238, RGD:1580234, RGD:1580237 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
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
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
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 Vcl vinculin ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 15
ClinVar Annotator: match by OMIM:613255
OMIM
ClinVar
PMID:11815424, PMID:16236538, PMID:16712796, PMID:16949038, PMID:17097056, PMID:23159629, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25332820, PMID:25741868, PMID:26458567, PMID:26735901, PMID:27503891, PMID:27930701, PMID:28492532, PMID:29875424 NCBI chr15:3,455,211...3,544,738
Ensembl chr15:3,455,211...3,544,702
JBrowse link
hypertrophic cardiomyopathy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 16
ClinVar Annotator: match by OMIM:613838
OMIM
ClinVar
PMID:17347475, PMID:17434779, PMID:19472918, PMID:21681106, PMID:22987565, PMID:23310962, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:227,180,887...227,207,629
Ensembl chr 2:227,180,886...227,207,635
JBrowse link
hypertrophic cardiomyopathy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 17
ClinVar Annotator: match by OMIM:613873
OMIM
ClinVar
PMID:17476457, PMID:17509612, PMID:23757202, PMID:23861362, PMID:23973696, PMID:24033266, PMID:25333069, PMID:25741868, PMID:27532831, PMID:28087566, PMID:28492532 NCBI chr 3:159,709,998...159,776,536
Ensembl chr 3:159,712,325...159,775,643
JBrowse link
hypertrophic cardiomyopathy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 ClinVar PMID:12610310, PMID:12639993, PMID:16235537, PMID:16829191, PMID:17655857, PMID:21167350, PMID:21332051, PMID:22137083, PMID:23861362, PMID:24033266, PMID:25611685, PMID:25741868, PMID:26535225, PMID:27532257, PMID:28492532, PMID:28600387 NCBI chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418
JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18
ClinVar Annotator: match by OMIM:613874
OMIM
ClinVar
PMID:12610310, PMID:12639993, PMID:12705874, PMID:16235537, PMID:16829191, PMID:17655857, PMID:21167350, PMID:21332051, PMID:22137083, PMID:23861362, PMID:24033266, PMID:25611685, PMID:25741868, PMID:26535225, PMID:27532257, PMID:28492532, PMID:28600387 NCBI chr20:34,633,157...34,642,904
Ensembl chr20:34,633,157...34,642,904
JBrowse link
hypertrophic cardiomyopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 2
ClinVar Annotator: match by OMIM:115195
OMIM
ClinVar
PMID:2003160, PMID:2840870, PMID:2946667, PMID:7898523, PMID:7981753, PMID:8205619, PMID:8951566, PMID:8958207, PMID:9060892, PMID:9140840, PMID:9154300, PMID:9201030, PMID:9637714, PMID:9714088, PMID:9788962, PMID:10085122, PMID:10405326, PMID:10449439, PMID:10467159, PMID:10497196, PMID:10521296, PMID:10525521, PMID:10529204, PMID:10610467, PMID:10617660, PMID:10850966, PMID:10978365, PMID:11034944, PMID:11060291, PMID:11060294, PMID:11106718, PMID:11113119, PMID:11158969, PMID:11346248, PMID:11432788, PMID:11560853, PMID:11606294, PMID:11684629, PMID:11773635, PMID:11968089, PMID:12084606, PMID:12186860, PMID:12409295, PMID:12473556, PMID:12707239, PMID:12818575, PMID:12860912, PMID:12881443, PMID:12923187, PMID:12974739, PMID:14563299, PMID:14636924, PMID:14640471, PMID:14654368, PMID:14722098, PMID:15246915, PMID:15358028, PMID:15464434, PMID:15519027, PMID:15542288, PMID:15563892, PMID:15568820, PMID:15623536, PMID:15631686, PMID:15769782, PMID:15923195, PMID:15958377, PMID:16093482, PMID:16115294, PMID:16115869, PMID:16199542, PMID:16326803, PMID:16715312, PMID:16754800, PMID:16777946, PMID:17101185, PMID:17278368, PMID:17456375, PMID:17612745, PMID:17932326, PMID:18029407, PMID:18056765, PMID:18154728, PMID:18258667, PMID:18349139, PMID:18403758, PMID:18467357, PMID:18506004, PMID:18533079, PMID:18606313, PMID:18651846, PMID:19033660, PMID:19035361, PMID:19087273, PMID:19150014, PMID:19253838, PMID:19275886, PMID:19324435, PMID:19412328, PMID:19487599, PMID:19645627, PMID:19754353, PMID:19880069, PMID:19914256, PMID:20031601, PMID:20031602, PMID:20031618, PMID:20038417, PMID:20057144, PMID:20079745, PMID:20083571, PMID:20159828, PMID:20215591, PMID:20298698, PMID:20414521, PMID:20439259, PMID:20458009, PMID:20513729, PMID:20530761, PMID:20624503, PMID:20800588, PMID:20973921, PMID:20978592, PMID:21185001, PMID:21245263, PMID:21310275, PMID:21415410, PMID:21424860, PMID:21483645, PMID:21511876, PMID:21551322, PMID:21683708, PMID:21846512, PMID:22017532, PMID:22112859, PMID:22144547, PMID:22292720, PMID:22321274, PMID:22334656, PMID:22455086, PMID:22464770, PMID:22500102, PMID:22517884, PMID:22579624, PMID:22675533, PMID:22857948, PMID:22958901, PMID:23074333, PMID:23233322, PMID:23283745, PMID:23299917, PMID:23349452, PMID:23383212, PMID:23396983, PMID:23494605, PMID:23539503, PMID:23663841, PMID:23674365, PMID:23711808, PMID:23785128, PMID:23861362, PMID:23897817, PMID:24033266, PMID:24055113, PMID:24093860, PMID:24111713, PMID:24119082, PMID:24205113, PMID:24367593, PMID:24418317, PMID:24503780, PMID:24691700, PMID:24721642, PMID:24793961, PMID:24992688, PMID:25031304, PMID:25086479, PMID:25351510, PMID:25448463, PMID:25524337, PMID:25611685, PMID:25637381, PMID:25668678, PMID:25741868, PMID:25849606, PMID:26084686, PMID:26183555, PMID:26468400, PMID:26498512, PMID:26507537, PMID:26633542, PMID:26656175, PMID:26656454, PMID:26681313, PMID:26688388, PMID:26743238, PMID:26779504, PMID:26899768, PMID:26914223, PMID:27022107, PMID:27036851, PMID:27074551, PMID:27082122, PMID:27153395, PMID:27411801, PMID:27483260, PMID:27493864, PMID:27532257, PMID:27576561, PMID:27600940, PMID:27757084, PMID:27841901, PMID:27930701, PMID:28073646, PMID:28193612, PMID:28255936, PMID:28352236, PMID:28356264, PMID:28408708, PMID:28416588, PMID:28420666, PMID:28492532, PMID:28566242, PMID:28669108, PMID:28735292, PMID:28771489, PMID:28790153, PMID:28798025, PMID:28973083, PMID:28973951, PMID:29121657, PMID:29367539, PMID:29367541, PMID:29661763, PMID:29773157, PMID:29907873, PMID:30165862, PMID:30311386, PMID:89140840 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link
hypertrophic cardiomyopathy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 20
ClinVar Annotator: match by OMIM:613876
OMIM
ClinVar
PMID:19881492, PMID:20970104, PMID:24033266, PMID:24503780, PMID:25741868, PMID:25979592, PMID:28087566, PMID:28333919, PMID:28492532, PMID:28798025, PMID:30311386 NCBI chr 2:257,452,937...257,484,607
Ensembl chr 2:257,453,347...257,484,587
JBrowse link
hypertrophic cardiomyopathy 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcap titin-cap ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25
ClinVar Annotator: match by term: Dilated cardiomyopathy 1N
ClinVar Annotator: match by OMIM:607487
OMIM
ClinVar
PMID:10655062, PMID:12507422, PMID:15582318, PMID:16352453, PMID:16911908, PMID:17097056, PMID:18408010, PMID:18414213, PMID:18585512, PMID:19035361, PMID:19412328, PMID:20215591, PMID:20474083, PMID:21520333, PMID:21959314, PMID:22194935, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24037902, PMID:24503780, PMID:25055047, PMID:25741868, PMID:26084686, PMID:26332198, PMID:26350513, PMID:26467025, PMID:27066551, PMID:27532257, PMID:28492532, PMID:29797799, PMID:30311386, PMID:30871747 NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:16247757, PMID:23861362, 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 Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1N ClinVar PMID:3144325, PMID:9241277, PMID:10806205, PMID:11735257, PMID:12707239, PMID:12860912, PMID:15607392, PMID:15698845, PMID:15992656, PMID:16020591, PMID:16199542, PMID:16352453, PMID:20641121, PMID:21511876, PMID:21533915, PMID:22876777, PMID:23270746, PMID:23283745, PMID:23610579, PMID:23967088, PMID:24033266, PMID:24111713, PMID:24113344, PMID:24510615, PMID:25132132, PMID:25228707, PMID:25351510, PMID:25524337, PMID:25741868, PMID:25940119, PMID:27532257, PMID:27600940, PMID:28138913, PMID:28166811, PMID:28193612, 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
hypertrophic cardiomyopathy 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnc filamin C ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 5
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 26
ClinVar
OMIM
PMID:21520333, PMID:25351925, PMID:25741868, PMID:26436962, PMID:26467025, PMID:26666891, PMID:27296017, PMID:28356264, PMID:28492532, PMID:30311386 NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
JBrowse link
Hypertrophic Cardiomyopathy 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk3 alpha-kinase 3 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 ClinVar
OMIM
PMID:25741868, PMID:26846950, PMID:27106955 NCBI chr 1:142,882,997...142,931,940
Ensembl chr 1:142,883,040...142,931,940
JBrowse link
hypertrophic cardiomyopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 3
ClinVar Annotator: match by OMIM:115196
OMIM
ClinVar
PMID:07729014, PMID:07898523, PMID:08205619, PMID:08523464, PMID:08774330, PMID:09060904, PMID:9245729, PMID:09440709, PMID:09822100, PMID:10400910, PMID:10900175, PMID:11136687, PMID:11603924, PMID:11606294, PMID:11968089, PMID:12473556, PMID:12858563, PMID:12860912, PMID:14734051, PMID:15000344, PMID:16014439, PMID:16365313, PMID:16504640, PMID:18403758, PMID:18409188, PMID:18414213, PMID:19035361, PMID:20031602, PMID:20117437, PMID:21109227, PMID:21239446, PMID:21295541, PMID:21310275, PMID:21320446, PMID:21376702, PMID:21551322, PMID:22155441, PMID:22187526, PMID:22462493, PMID:22789852, PMID:22794249, PMID:23396983, PMID:23539503, PMID:23771913, PMID:24033266, PMID:24183960, PMID:24510615, PMID:25241052, PMID:25242052, PMID:25524337, PMID:25525159, PMID:25548289, PMID:25611685, PMID:25741868, PMID:26960954, PMID:27376658, PMID:27532257, PMID:27639548, PMID:28138913, PMID:28492532, PMID:28600229, PMID:28603979, PMID:28797094, PMID:29496559, PMID:29540472, PMID:29760186, PMID:30165862, PMID:30311386 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
hypertrophic cardiomyopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 ClinVar PMID:25741868 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4
ClinVar Annotator: match by synonym: Cardiomyopathy, familial hypertrophic, 4, susceptibility to
OMIM
ClinVar
PMID:1853307, PMID:2073894, PMID:2561168, PMID:2732257, PMID:2943217, PMID:7493025, PMID:7493026, PMID:7786104, PMID:8655135, PMID:9048664, PMID:9218526, PMID:9241277, PMID:9503187, PMID:9541104, PMID:9562578, PMID:9631872, PMID:9742053, PMID:10424815, 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:12566107, PMID:12601548, PMID:12628722, PMID:12707239, PMID:12788380, PMID:12818575, PMID:12881443, PMID:12951062, PMID:12974739, PMID:14563344, PMID:14613868, PMID:15010274, PMID:15114369, PMID:15115610, PMID:15166115, PMID:15358028, PMID:15519027, PMID:15563892, PMID:15671604, PMID:15769446, PMID:15823648, PMID:15856146, PMID:15936968, PMID:16004897, 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:17521870, PMID:17536430, PMID:17560888, PMID:17612681, 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:18761664, 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: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:20359594, PMID:20378854, PMID:20414521, PMID:20433692, PMID:20435227, PMID:20439259, PMID:20474083, PMID:20505798, PMID:20530761, PMID:20542340, 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:21492761, PMID:21499742, PMID:21511876, PMID:21520333, PMID:21551322, PMID:21638988, PMID:21750094, PMID:21832025, PMID:21832052, PMID:21835286, PMID:21835320, PMID:21839045, PMID:21915287, PMID:21939669, PMID:21943931, PMID:21959974, PMID:21985754, PMID:22057632, PMID:22112859, 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:23711808, PMID:23782526, PMID:23785128, 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:24865491, PMID:25031304, PMID:25058872, PMID:25078086, PMID:25086479, PMID:25132132, PMID:25163546, PMID:25210889, PMID:25214167, PMID:25281569, PMID:25335496, PMID:25342278, PMID:25351510, PMID:25377941, PMID:25447171, PMID:25524337, PMID:25525159, PMID:25543971, PMID:25558701, PMID:25569433, PMID:25583989, PMID:25611685, PMID:25631583, PMID:25637381, PMID:25740977, PMID:25741868, PMID:25741869, PMID:25856671, PMID:25971843, PMID:26090888, PMID:26163040, 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:26914223, PMID:26936621, PMID:27000522, PMID:27096365, PMID:27108529, 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:27600940, PMID:27618852, PMID:27620334, 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:28202948, PMID:28323875, PMID:28356264, PMID:28408708, PMID:28416588, PMID:28420666, PMID:28436997, PMID:28450932, PMID:28492532, PMID:28498465, PMID:28518168, PMID:28538763, PMID:28615295, PMID:28658286, PMID:28679633, PMID:28749478, PMID:28771489, PMID:28790153, PMID:28794111, PMID:28807990, PMID:28824454, PMID:28843747, PMID:28916354, PMID:28971120, PMID:29029073, PMID:29032884, PMID:29121657, PMID:29212898, PMID:29247119, PMID:29367541, PMID:29398688, PMID:29447731, PMID:29493010, PMID:29540472, PMID:29555771, PMID:29661763, PMID:29663722, PMID:29709087, PMID:29710196, PMID:29875314, PMID:29875424, PMID:29907873, PMID:29988065, PMID:30206291, PMID:30297972, PMID:30311386, PMID:30645170, PMID:30762279, PMID:30871747, PMID:30972196, PMID:30984009, PMID:31333075, PMID:31568572, PMID:32860008, PMID:397516074 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 ClinVar NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 ClinVar NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 ClinVar PMID:12507422 NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
JBrowse link
hypertrophic cardiomyopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 6
ClinVar Annotator: match by OMIM:600858
OMIM
ClinVar
PMID:7657794, PMID:10355918, PMID:10820940, PMID:11371514, PMID:11407343, PMID:11827995, PMID:14519435, PMID:14722619, PMID:15611370, PMID:15673802, 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:21409595, PMID:23778007, PMID:23829931, PMID:23992123, PMID:24033266, PMID:24503780, PMID:25092788, PMID:25741868, PMID:25997934, PMID:26085771, PMID:26729852, PMID:27189955, PMID:27532257, PMID:27573176, PMID:28341588, PMID:28431061, PMID:28492532, PMID:28498465, 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
hypertrophic cardiomyopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 7 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 Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 7 ClinVar PMID:30442288 NCBI chr18:16,650,786...17,332,209
Ensembl chr18:16,650,806...17,332,210
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 7
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 7
ClinVar Annotator: match by OMIM:613690
OMIM
ClinVar
PMID:3144325, 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:12860912, PMID:12974739, PMID:14575308, PMID:15070570, PMID:15201162, PMID:15519027, PMID:15524171, PMID:15607392, PMID:15631686, PMID:15698845, PMID:15718266, PMID:15992656, PMID:16020591, PMID:16199542, PMID:16267253, PMID:16274223, PMID:16335287, PMID:16352453, PMID:16531415, PMID:17932326, PMID:18175163, PMID:18430738, PMID:18548271, PMID:19035361, PMID:19645627, PMID:20350521, PMID:20624503, PMID:20641121, PMID:21239446, PMID:21310275, PMID:21511876, PMID:21533915, PMID:21799269, PMID:21839045, PMID:21896538, PMID:21967901, PMID:22301726, PMID:22361390, PMID:22429680, PMID:22675533, PMID:22876777, PMID:23270746, PMID:23283745, PMID:23540544, PMID:23610579, PMID:23967088, PMID:24033266, PMID:24111713, PMID:24113344, PMID:24510615, PMID:24704860, PMID:25132132, PMID:25228707, PMID:25239116, PMID:25324519, PMID:25342278, PMID:25351510, PMID:25524337, PMID:25741868, PMID:25940119, PMID:26169204, PMID:26199943, PMID:26440512, PMID:26506446, PMID:26914223, 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 Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 7 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
hypertrophic cardiomyopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 8 OMIM
ClinVar
PMID:6211078, PMID:08673105, PMID:11174330, PMID:12021217, PMID:16267253, PMID:16754800, PMID:17142342, PMID:18409188, PMID:20641121, PMID:21239446, PMID:21823217, PMID:21885653, PMID:22131351, PMID:22958901, PMID:23054336, PMID:23283745, PMID:23426552, PMID:23748425, PMID:24033266, PMID:24111713, PMID:24911555, PMID:25132132, PMID:25342278, PMID:25611685, PMID:25741868, PMID:25856671, PMID:25910212, PMID:26385864, PMID:26443374, 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:29669825, PMID:29709087, PMID:29710196, PMID:29914921, PMID:30297972, PMID:30706179, 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
hypertrophic cardiomyopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttn titin ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9
ClinVar Annotator: match by OMIM:613765
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10462489, PMID:18948003, PMID:22335739, PMID:23396983, PMID:23861362, PMID:23975875, PMID:24033266, PMID:24395473, PMID:24459294, PMID:24503780, PMID:25589632, PMID:25741868, PMID:26272908, PMID:26467025, PMID:26701604, PMID:28166282, PMID:28492532, PMID:28750076, PMID:30311386 NCBI chr 3:63,565,160...63,837,815 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          familial hypertrophic cardiomyopathy 89
            Apical Hypertrophic Cardiomyopathy and Neuropathy 2
            FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 1
            Hypertrophic Cardiomyopathy 27 1
            autosomal dominant nonsyndromic deafness 22 1
            hypertrophic cardiomyopathy 1 44
            hypertrophic cardiomyopathy 10 1
            hypertrophic cardiomyopathy 11 1
            hypertrophic cardiomyopathy 12 1
            hypertrophic cardiomyopathy 13 1
            hypertrophic cardiomyopathy 14 4
            hypertrophic cardiomyopathy 15 1
            hypertrophic cardiomyopathy 16 1
            hypertrophic cardiomyopathy 17 1
            hypertrophic cardiomyopathy 18 2
            hypertrophic cardiomyopathy 2 1
            hypertrophic cardiomyopathy 20 1
            hypertrophic cardiomyopathy 21 0
            hypertrophic cardiomyopathy 25 3
            hypertrophic cardiomyopathy 26 1
            hypertrophic cardiomyopathy 3 1
            hypertrophic cardiomyopathy 4 5
            hypertrophic cardiomyopathy 6 1
            hypertrophic cardiomyopathy 7 4
            hypertrophic cardiomyopathy 8 1
            hypertrophic cardiomyopathy 9 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      cardiovascular system disease 4424
        vascular disease 3354
          artery disease 2375
            aortic disease 612
              aortic valve disease 311
                aortic valve stenosis 287
                  subvalvular aortic stenosis 230
                    hypertrophic cardiomyopathy 225
                      familial hypertrophic cardiomyopathy 89
                        Apical Hypertrophic Cardiomyopathy and Neuropathy 2
                        FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 1
                        Hypertrophic Cardiomyopathy 27 1
                        autosomal dominant nonsyndromic deafness 22 1
                        hypertrophic cardiomyopathy 1 44
                        hypertrophic cardiomyopathy 10 1
                        hypertrophic cardiomyopathy 11 1
                        hypertrophic cardiomyopathy 12 1
                        hypertrophic cardiomyopathy 13 1
                        hypertrophic cardiomyopathy 14 4
                        hypertrophic cardiomyopathy 15 1
                        hypertrophic cardiomyopathy 16 1
                        hypertrophic cardiomyopathy 17 1
                        hypertrophic cardiomyopathy 18 2
                        hypertrophic cardiomyopathy 2 1
                        hypertrophic cardiomyopathy 20 1
                        hypertrophic cardiomyopathy 21 0
                        hypertrophic cardiomyopathy 25 3
                        hypertrophic cardiomyopathy 26 1
                        hypertrophic cardiomyopathy 3 1
                        hypertrophic cardiomyopathy 4 5
                        hypertrophic cardiomyopathy 6 1
                        hypertrophic cardiomyopathy 7 4
                        hypertrophic cardiomyopathy 8 1
                        hypertrophic cardiomyopathy 9 1
paths to the root

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