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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 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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 More... NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
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:17097056 PMID:20022194 PMID:23299917 PMID:23861362 More... NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
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 More... NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
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:28166811 PMID:28492532 NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
JBrowse link
G Calm3 calmodulin 3 susceptibility ISO DNA:polymorphism:promoter:¿¿¿34T>A(human) RGD PMID:19429631 RGD:13792494 NCBI chr 1:77,590,668...77,597,776
Ensembl chr 1:77,589,230...77,592,207
JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015
JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:14672715 PMID:15580566 NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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 More... NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
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:28166811 More... NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653
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 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
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:28166811 PMID:28492532 NCBI chr20:23,614,469...25,200,026 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 More... NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
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:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
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 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
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 More... NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
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:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy
ClinVar PMID:18632414 PMID:19924139 PMID:20738328 PMID:23381804 PMID:23861362 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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 chr18:14,687,193...14,944,232
Ensembl chr18:14,587,852...14,944,261
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976
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:25246303 PMID:26857240 PMID:28492532 NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928
JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr 9:45,388,979...45,462,530
Ensembl chr 9:45,388,981...45,431,192
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
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 More... NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More... NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723
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:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28166811 More... NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140
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:28166811 PMID:28492532 NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904
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 More... NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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 More... NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
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 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
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:28166811 PMID:28492532 More... NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
JBrowse link
G Lamp2 lysosomal-associated membrane protein 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:24033266 PMID:28492532 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522
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:28166811 PMID:28492532 PMID:29247119 PMID:31333075 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
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 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G LOC100910714 60S ribosomal protein L36a-like ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:2171331 PMID:8738659 PMID:9100224 PMID:9395081 PMID:9883849 More... NCBI chr13:4,300,010...4,300,535 JBrowse link
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr18:1,802,519...1,926,988
Ensembl chr18:1,802,519...1,920,689
JBrowse link
G Mybpc3 myosin binding protein C3 ISO DNA:nonsense mutations: :multiple
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
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
RGD
PMID:1853307 PMID:2073894 PMID:2732257 PMID:2943217 PMID:7493025 More... RGD:1580239, RGD:1580238, RGD:1580234, RGD:1580237 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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
CTD
RGD
PMID:11815426 PMID:15998695 PMID:20215591 PMID:20656787 PMID:22011241 More... RGD:11065341 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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: Hereditary ventricular hypertrophy
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 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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
RGD
PMID:8673105 PMID:9241277 PMID:09535554 PMID:11102452 PMID:11748309 More... RGD:1580241, RGD:1580240 NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983
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:18409188 More... NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816
JBrowse link
G Myl9 myosin light chain 9 ISO RGD PMID:16076902 RGD:1582589 NCBI chr 3:145,281,943...145,288,333
Ensembl chr 3:145,281,937...145,288,333
JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728
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 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
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 2:211,141,463...211,168,202
Ensembl chr 2:211,141,463...211,168,221
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 chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
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 chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210
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 More... NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342
JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657
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 More... NCBI chr11:84,661,783...84,727,730 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 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:10355918 PMID:10820940 PMID:11407343 PMID:11827995 PMID:14722619 More... NCBI chr 4:10,010,574...10,252,152
Ensembl chr 4:10,010,890...10,252,142
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:17603482 PMID:17603483 PMID:17603486 PMID:17603487 More... NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
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:25163546 PMID:25741868 PMID:28492532 NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060
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:19216760 PMID:19926015 PMID:23861362 PMID:24033266 PMID:25163546 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
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 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:28166811 PMID:28492532 More... NCBI chr 1:160,095,108...160,096,401
Ensembl chr 1:160,095,108...160,096,376
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001
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 More... NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
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 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721
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
RGD
PMID:2946667 PMID:7898523 PMID:8205619 PMID:8951566 PMID:9060892 More... RGD:1559062 NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
JBrowse link
G Tpm1 tropomyosin 1 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
RGD
PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... RGD:1580447 NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
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:22821932 PMID:24436435 PMID:25741868 PMID:25801283 PMID:28492532 NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322
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:18948003 PMID:23396983 PMID:23861362 More... NCBI chr 3:61,652,432...61,924,912 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26537620 PMID:28492532 PMID:31554435 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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 chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:20474083 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606
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: Autosomal dominant nonsyndromic deafness 22
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 More... NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292
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 More... NCBI chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015
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:17097056 PMID:20022194 PMID:23299917 PMID:23861362 More... NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
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 More... NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
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 PMID:31408100 PMID:32161207 NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 OMIM
ClinVar
PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:17060380 More... NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
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 More... NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
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 More... NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:26467025 PMID:28492532 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:7971964 PMID:17033975 PMID:20031616 PMID:20031617 PMID:20197793 More... NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Asymmetric septal hypertrophy ClinVar NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Asymmetric septal hypertrophy ClinVar NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
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 More... NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664
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 More... NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723
JBrowse link
G Ilk integrin-linked kinase ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:28492532 NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140
JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:17509612 PMID:25741868 NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:21859740 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27662471 More... NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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:28166811 PMID:28492532 PMID:31333075 More... NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:28492532 NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
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 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G LOC100910714 60S ribosomal protein L36a-like 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 More... NCBI chr13:4,300,010...4,300,535 JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: CMH
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
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:2732257 PMID:2943217 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1
ClinVar Annotator: match by OMIM:192600
OMIM
ClinVar
PMID:1361491 PMID:1423936 PMID:1430197 PMID:1472461 PMID:1552912 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084
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 More... NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983
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 More... NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816
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:9536098 PMID:11733062 PMID:17576681 PMID:22995991 PMID:23299917 More... NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:28492532 NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
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 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342
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 More... NCBI chr11:84,661,783...84,727,730 JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:10355918 PMID:10820940 PMID:11407343 PMID:11827995 PMID:14722619 More... NCBI chr 4:10,010,574...10,252,152
Ensembl chr 4:10,010,890...10,252,142
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:17603482 PMID:17603483 PMID:17603487 PMID:17603489 PMID:18241070 More... NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:25163546 PMID:25741868 PMID:28492532 NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060
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 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840
JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:28492532 NCBI chr 1:160,095,108...160,096,401
Ensembl chr 1:160,095,108...160,096,376
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 More... NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887
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 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
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 More... NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1
ClinVar PMID:23396983 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 3:61,652,432...61,924,912 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 More... NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:28492532 NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:20474083 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606
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:678511 PMID:4942892 PMID:8673105 PMID:09535554 PMID:9536098 More... NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983
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:9536098 PMID:9563954 PMID:10330430 PMID:10494087 PMID:10966831 More... NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
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 More... NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653
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 More... NCBI chr16:6,400,801...6,405,419
Ensembl chr16:6,402,171...6,405,634
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 chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
JBrowse link
G Mir208a microRNA 208a ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 ClinVar PMID:28492532 NCBI chr15:28,425,570...28,425,652 JBrowse link
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 ClinVar PMID:28492532 NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749
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:7731997 PMID:9172070 PMID:9536098 PMID:11815426 PMID:15998695 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 ClinVar PMID:28492532 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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 More... NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606
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 More... NCBI chr 2:211,141,463...211,168,202
Ensembl chr 2:211,141,463...211,168,221
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 More... NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904
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:12705874 PMID:16235537 PMID:16829191 More... NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
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 More... NCBI chr20:32,629,537...32,639,559 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 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
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 More... NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342
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:9536098 PMID:10655062 PMID:12507422 PMID:15582318 PMID:16352453 More... NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887
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 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25
ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1N
ClinVar PMID:3144325 PMID:9241277 PMID:10806205 PMID:11735257 PMID:12707239 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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:16199547 PMID:21520333 PMID:25179549 PMID:25351925 PMID:25633252 More... NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
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 Annotator: match by term: Cardiomyopathy, familial hypertrophic 27
ClinVar
OMIM
PMID:21441111 PMID:25741868 PMID:26846950 PMID:27106955 PMID:28492532 NCBI chr 1:135,014,455...135,062,294
Ensembl chr 1:135,014,499...135,062,302
JBrowse link
Hypertrophic Cardiomyopathy 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28 OMIM
ClinVar
PMID:30442288 PMID:31742804 PMID:32335906 NCBI chr18:15,993,079...16,425,796
Ensembl chr18:15,993,324...16,425,796
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 More... NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
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 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 ClinVar PMID:23233322 PMID:24111713 PMID:25741868 PMID:28492532 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 ClinVar NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 ClinVar NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 ClinVar PMID:12507422 NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887
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 More... NCBI chr 4:10,010,574...10,252,152
Ensembl chr 4:10,010,890...10,252,142
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 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
JBrowse link
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 7 ClinVar PMID:30442288 NCBI chr18:15,993,079...16,425,796
Ensembl chr18:15,993,324...16,425,796
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 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721
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 More... NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816
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 More... NCBI chr 3:61,652,432...61,924,912 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          familial hypertrophic cardiomyopathy 91
            Apical Hypertrophic Cardiomyopathy and Neuropathy 2
            FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 1
            Hypertrophic Cardiomyopathy 27 1
            Hypertrophic Cardiomyopathy 28 1
            autosomal dominant nonsyndromic deafness 22 1
            hypertrophic cardiomyopathy 1 45
            hypertrophic cardiomyopathy 10 1
            hypertrophic cardiomyopathy 11 1
            hypertrophic cardiomyopathy 12 1
            hypertrophic cardiomyopathy 13 1
            hypertrophic cardiomyopathy 14 5
            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 6
            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 17251
    disease of anatomical entity 16595
      cardiovascular system disease 4520
        vascular disease 3439
          artery disease 2401
            aortic disease 612
              aortic valve disease 296
                aortic valve stenosis 271
                  subvalvular aortic stenosis 220
                    hypertrophic cardiomyopathy 219
                      familial hypertrophic cardiomyopathy 91
                        Apical Hypertrophic Cardiomyopathy and Neuropathy 2
                        FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 1
                        Hypertrophic Cardiomyopathy 27 1
                        Hypertrophic Cardiomyopathy 28 1
                        autosomal dominant nonsyndromic deafness 22 1
                        hypertrophic cardiomyopathy 1 45
                        hypertrophic cardiomyopathy 10 1
                        hypertrophic cardiomyopathy 11 1
                        hypertrophic cardiomyopathy 12 1
                        hypertrophic cardiomyopathy 13 1
                        hypertrophic cardiomyopathy 14 5
                        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 6
                        hypertrophic cardiomyopathy 6 1
                        hypertrophic cardiomyopathy 7 4
                        hypertrophic cardiomyopathy 8 1
                        hypertrophic cardiomyopathy 9 1
paths to the root