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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:hypertrophic cardiomyopathy
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Accession:DOID:11984 term browser browse the term
Definition:An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. (DO)
Synonyms:exact_synonym: hypertrophic cardiomyopathies;   hypertrophic obstructive cardiomyopathies;   hypertrophic obstructive cardiomyopathy
 narrow_synonym: CONCENTRIC HYPERTROPHIC CARDIOMYOPATHY
 primary_id: MESH:D002312
 xref: EFO:0000538;   ICD9CM:425.1;   NCI:C34449;   ORDO:217568
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
hypertrophic cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17245405 PMID:25741868 PMID:28492532 NCBI chrNW_004624752:16,792,202...16,926,552
Ensembl chrNW_004624752:16,792,165...16,927,293 		JBrowse link
G Acacb acetyl-CoA carboxylase beta ISO RGD PMID:31709908 RGD:329901803 NCBI chrNW_004624747:12,287,817...12,426,340
Ensembl chrNW_004624747:12,307,541...12,424,897 		JBrowse link
G Ace angiotensin I converting enzyme no_association ISO DNA:insertion/deletion:intron RGD PMID:9270088 RGD:1566491 NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521 		JBrowse link
G Ace2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:myocardium (human) RGD PMID:32448590 RGD:40818260 NCBI chrNW_004624829:344,823...391,451
Ensembl chrNW_004624829:344,933...391,527 		JBrowse link
G Acp2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624767:1,473,186...1,481,395
Ensembl chrNW_004624767:1,473,205...1,485,345 		JBrowse link
G Actc1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:676951 PMID:2255271 PMID:9536098 PMID:9563954 PMID:10494087 More... NCBI chrNW_004624804:2,006,439...2,011,809
Ensembl chrNW_004624804:2,005,997...2,011,023 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17097056 PMID:20022194 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chrNW_004624775:13,917,215...13,989,093
Ensembl chrNW_004624775:13,916,883...13,989,153 		JBrowse link
G Adgrl4 adhesion G protein-coupled receptor L4 ISO protein:decreased expression:heart: RGD PMID:22606234 RGD:13838662 NCBI chrNW_004624742:18,306,809...18,397,683
Ensembl chrNW_004624742:18,306,871...18,396,342 		JBrowse link
G Adm adrenomedullin ISO associated with Diabetes Mellitus, Experimental;protein:decreased expression:cardiomyocyte RGD PMID:17355819 RGD:1625294 NCBI chrNW_004624766:2,402,152...2,404,343
Ensembl chrNW_004624766:2,401,769...2,404,446 		JBrowse link
G Agt angiotensinogen no_association
susceptibility		 ISO DNA:polymorphisms: :p.T174M, p.M235T (human)
DNA:polymorphism:cds:p.M235T(human)		 RGD PMID:9023164 PMID:9270088 RGD:13432163 RGD:1566491 NCBI chrNW_004624775:18,846,222...18,856,093
Ensembl chrNW_004624775:18,849,118...18,855,577 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO RGD PMID:19889059 RGD:401794453 NCBI chrNW_004624739:12,939,183...12,987,574
Ensembl chrNW_004624739:12,942,165...12,987,973 		JBrowse link
G Akap6 A-kinase anchoring protein 6 ISO RGD PMID:24812305 RGD:11251930 NCBI chrNW_004624838:3,992,769...4,393,055
Ensembl chrNW_004624838:3,999,663...4,393,055 		JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chrNW_004624809:1,101,941...1,258,402
Ensembl chrNW_004624809:1,103,538...1,257,809 		JBrowse link
G Alpk3 alpha kinase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:21441111 PMID:24033266 PMID:25741868 PMID:26846950 PMID:27106955 More... NCBI chrNW_004624768:18,061,477...18,108,044
Ensembl chrNW_004624768:18,061,518...18,106,876 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12571597 PMID:15178757 PMID:17242276 PMID:22581653 PMID:23174487 More... NCBI chrNW_004624838:6,490,434...7,023,945
Ensembl chrNW_004624838:6,548,159...7,023,945 		JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... NCBI chrNW_004624737:2,127,253...2,136,181
Ensembl chrNW_004624737:2,127,267...2,136,347 		JBrowse link
G Aph1b aph-1 homolog B, gamma-secretase subunit ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624781:9,152,359...9,249,467
Ensembl chrNW_004624781:9,217,741...9,249,477 		JBrowse link
G Arfgap2 ADP ribosylation factor GTPase activating protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624767:1,513,088...1,523,495
Ensembl chrNW_004624767:1,513,146...1,523,660 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624737:27,171,402...27,195,008
Ensembl chrNW_004624737:27,171,402...27,195,004 		JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO protein:decreased expression:heart
protein:decreased expression:cardiomyocyte		 RGD PMID:25209900 PMID:25820375 RGD:11558015 RGD:13792650 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344 		JBrowse link
G Becn1 beclin 1 ISO protein:increased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chrNW_004624795:1,386,154...1,406,314
Ensembl chrNW_004624795:1,385,756...1,405,714 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
G Ca12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624781:9,140,753...9,195,651
Ensembl chrNW_004624781:9,140,837...9,196,400 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20817017 PMID:22840528 PMID:23861362 PMID:24439875 PMID:25260352 More... NCBI chrNW_004624735:10,201,030...10,927,349
Ensembl chrNW_004624735:10,201,526...10,432,896 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 severity ISO DNA:missense mutation:cds:c.1598C>T (p.S533L)(human)
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy		 RGD
ClinVar		 PMID:23861362 PMID:25741868 PMID:28492532 PMID:28614222 RGD:13513985 NCBI chrNW_004624796:9,502,132...9,858,836
Ensembl chrNW_004624796:9,503,452...9,859,019 		JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17655857 PMID:23861362 PMID:25741868 PMID:28492532 PMID:31513939 NCBI chrNW_004624908:949,709...962,114
Ensembl chrNW_004624908:949,783...961,667 		JBrowse link
G Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 More... NCBI chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656 		JBrowse link
G Cav1 caveolin 1 ISO MouseDO NCBI chrNW_004624827:2,844,855...2,878,367
Ensembl chrNW_004624827:2,844,115...2,879,179 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004624731:3,348,172...3,363,772
Ensembl chrNW_004624731:3,347,984...3,364,581 		JBrowse link
G Cd36 CD36 molecule (CD36 blood group) ISO mRNA:increased expression:heart RGD PMID:19189074 RGD:2307222 NCBI chrNW_004624739:29,341,620...29,441,232
Ensembl chrNW_004624739:29,407,568...29,441,333 		JBrowse link
G Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004624730:2,650,096...2,675,930
Ensembl chrNW_004624730:2,651,756...2,675,923 		JBrowse link
G Cep85l centrosomal protein 85 like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More... NCBI chrNW_004624798:11,482,163...11,592,698
Ensembl chrNW_004624798:11,482,438...11,593,028 		JBrowse link
G Cma1 chymase 1 susceptibility ISO DNA:snp:5' utr:g.-1903G>A rs1800875 (human) RGD PMID:8759823 RGD:5128572 NCBI chrNW_004624820:8,021,965...8,024,763
Ensembl chrNW_004624820:8,021,959...8,024,851 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:21667357 PMID:25741868 PMID:27519266 PMID:28492532 PMID:30715774 NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		JBrowse link
G Cryab crystallin alpha B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More... NCBI chrNW_004624784:7,074,590...7,093,471
Ensembl chrNW_004624784:7,074,590...7,093,054 		JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:8994428 PMID:9039266 PMID:12507422 PMID:12642359 PMID:14567970 More... NCBI chrNW_004624766:10,611,798...10,631,567
Ensembl chrNW_004624766:10,611,804...10,631,490 		JBrowse link
G Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624767:1,524,693...1,697,445
Ensembl chrNW_004624767:1,523,534...1,697,838 		JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624782:13,976,308...13,979,327 JBrowse link
G Ctnnb1 catenin beta 1 treatment ISO protein:increased phosphorylation:myocyte: RGD PMID:14993121 RGD:1598718 NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234 		JBrowse link
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624767:1,481,151...1,495,073
Ensembl chrNW_004624767:1,481,447...1,492,467 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:32528171 NCBI chrNW_004624823:5,624,958...5,632,234
Ensembl chrNW_004624823:5,622,283...5,632,283 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19937601 PMID:19959795 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chrNW_004624762:22,306,962...24,846,427
Ensembl chrNW_004624762:22,746,729...24,847,938 		JBrowse link
G Dnaaf3 dynein axonemal assembly factor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624832:2,081,239...2,087,833
Ensembl chrNW_004624832:2,082,494...2,087,537 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO protein:increased expression:cardiac muscle tissue of interventricular septum (human) RGD PMID:32051532 RGD:126925233 NCBI chrNW_004624828:2,316,042...2,358,866
Ensembl chrNW_004624828:2,315,251...2,358,711 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20031617 PMID:20152563 PMID:20400443 PMID:20716751 PMID:20857253 More... NCBI chrNW_004624770:1,748,561...1,778,566
Ensembl chrNW_004624770:1,748,276...1,781,117 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20400443 PMID:21220045 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chrNW_004624770:1,315,021...1,363,472
Ensembl chrNW_004624770:1,313,916...1,364,153 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18632414 PMID:19863551 PMID:21062920 PMID:21397041 PMID:21606390 More... NCBI chrNW_004624756:18,036,103...18,083,379
Ensembl chrNW_004624756:18,035,892...18,083,336 		JBrowse link
G Dtna dystrobrevin alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:30086531 PMID:31568572 NCBI chrNW_004624779:8,948,578...9,329,459
Ensembl chrNW_004624779:8,948,499...9,329,550 		JBrowse link
G Edn1 endothelin 1 ISO associated with Diabetes Mellitus, Experimental; protein:increased secretion:serum (rat) RGD PMID:19000375 RGD:2302065 NCBI chrNW_004624756:13,842,482...13,849,003
Ensembl chrNW_004624756:13,842,164...13,849,029 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004624946:805,573...808,001
Ensembl chrNW_004624946:801,639...808,162 		JBrowse link
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624770:13,133,319...13,156,420 JBrowse link
G Ephx2 epoxide hydrolase 2 ISO mRNA, protein:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chrNW_004624758:22,216,462...22,252,467
Ensembl chrNW_004624758:22,221,314...22,254,813 		JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624848:3,639,559...3,673,771
Ensembl chrNW_004624848:3,639,294...3,677,517 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624753:7,536,654...7,680,671
Ensembl chrNW_004624753:7,548,694...7,677,472 		JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chrNW_004624801:10,910,022...10,926,505
Ensembl chrNW_004624801:10,909,647...10,927,547 		JBrowse link
G Fbxl22 F-box and leucine rich repeat protein 22 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624781:8,910,778...8,915,393
Ensembl chrNW_004624781:8,910,857...8,915,069 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004624808:10,924,606...10,984,422
Ensembl chrNW_004624808:10,924,248...10,965,164 		JBrowse link
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004624779:10,562,319...11,069,557
Ensembl chrNW_004624779:10,562,296...11,069,694 		JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:11741828 PMID:16344347 PMID:16368217 PMID:17994539 PMID:18832576 More... NCBI chrNW_004624832:6,849,001...6,858,931
Ensembl chrNW_004624832:6,849,005...6,857,898 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18414213 PMID:22037554 PMID:25741868 PMID:28492532 NCBI chrNW_004624758:5,750,804...5,877,797
Ensembl chrNW_004624758:5,792,514...5,877,709 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:26555887 PMID:28492532 PMID:31513939 More... NCBI chrNW_004624783:7,334,421...7,360,795
Ensembl chrNW_004624783:7,334,312...7,361,134 		JBrowse link
G Fxn frataxin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15936968 PMID:25741868 NCBI chrNW_004624736:4,027,054...4,047,881
Ensembl chrNW_004624736:4,027,354...4,047,854 		JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22644586 PMID:25741868 PMID:28492532 NCBI chrNW_004624801:9,217,633...9,235,931
Ensembl chrNW_004624801:9,217,639...9,235,931 		JBrowse link
G Gja5 gap junction protein alpha 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004624772:16,810,723...16,828,328
Ensembl chrNW_004624772:16,813,011...16,814,084 		JBrowse link
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:7504405 PMID:7911050 PMID:8395937 PMID:8411052 PMID:8878432 More... NCBI chrNW_004624902:1,163,360...1,173,087
Ensembl chrNW_004624902:1,163,611...1,173,177 		JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More... NCBI chrNW_004624788:10,173,629...10,240,200
Ensembl chrNW_004624788:10,173,551...10,240,704 		JBrowse link
G Gpr149 G protein-coupled receptor 149 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004624730:31,921,433...31,999,075
Ensembl chrNW_004624730:31,921,426...31,998,801 		JBrowse link
G Gtpbp3 GTP binding protein 3, mitochondrial ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25434004 PMID:25741868 PMID:30426380 PMID:34276756 PMID:35413567 NCBI chrNW_004624908:616,831...619,953
Ensembl chrNW_004624908:615,181...619,914 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25145518 PMID:25145519 PMID:25642760 PMID:25741868 More... NCBI chrNW_004624781:968,608...1,007,969
Ensembl chrNW_004624781:968,748...1,008,200 		JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624781:8,694,044...8,907,701
Ensembl chrNW_004624781:8,745,780...8,907,701 		JBrowse link
G Hey2 hes related family bHLH transcription factor with YRPW motif 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20001863 NCBI chrNW_004624753:375,163...394,402
Ensembl chrNW_004624753:375,279...384,379 		JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased activity:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chrNW_004624740:14,940,161...14,941,561
Ensembl chrNW_004624740:14,939,445...14,941,819 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chrNW_004624889:2,736,727...2,746,333 JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO MouseDO NCBI chrNW_004624843:4,407,055...4,424,585
Ensembl chrNW_004624843:4,408,424...4,424,168 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle (rat) RGD PMID:20601373 RGD:4145536 NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chrNW_004624768:17,094,649...17,111,333
Ensembl chrNW_004624768:17,094,655...17,111,397 		JBrowse link
G Igf1 insulin like growth factor 1 severity ISO RGD PMID:12135130 RGD:1598422 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO associated with Diabetes Mellitus;protein:decreased expression:placenta RGD PMID:16750336 RGD:2311505 NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809 		JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8660453 NCBI chrNW_004624767:14,999,088...15,000,035
Ensembl chrNW_004624767:14,999,088...15,000,035 		JBrowse link
G Irf9 interferon regulatory factor 9 exacerbates
ameliorates		 ISO RGD PMID:24144649 RGD:125093743 NCBI chrNW_004624820:8,369,830...8,376,593
Ensembl chrNW_004624820:8,370,289...8,376,950 		JBrowse link
G Jph2 junctophilin 2 disease_progression ISO protein:decreased expression:heart
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy		 RGD
ClinVar		 PMID:9536098 PMID:17476457 PMID:17509612 PMID:17576681 PMID:20576937 More... RGD:6480270 NCBI chrNW_004624790:10,250,403...10,320,279
Ensembl chrNW_004624790:10,250,472...10,319,110 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624795:1,954,733...1,972,080
Ensembl chrNW_004624795:1,954,290...1,975,018 		JBrowse link
G Kat8 lysine acetyltransferase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27768893 NCBI chrNW_004624782:14,157,905...14,169,231
Ensembl chrNW_004624782:14,157,823...14,169,231 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24217263 PMID:28492532 NCBI chrNW_004624745:22,624,414...22,631,625
Ensembl chrNW_004624745:22,624,765...22,631,609 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:10220144 PMID:15368194 PMID:15840476 PMID:18006462 PMID:20817017 More... NCBI chrNW_004624745:22,552,809...22,553,321
Ensembl chrNW_004624745:22,525,037...22,556,000 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19716085 PMID:22581653 PMID:24033266 PMID:25637381 PMID:25741868 More... NCBI chrNW_004624800:5,633,060...5,663,700
Ensembl chrNW_004624800:5,632,726...5,663,771 		JBrowse link
G Kcnj2 potassium inwardly rectifying channel subfamily J member 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624801:365,393...375,802
Ensembl chrNW_004624801:365,361...374,487 		JBrowse link
G Kcnj5 potassium inwardly rectifying channel subfamily J member 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624812:3,213,619...3,243,514
Ensembl chrNW_004624812:3,213,774...3,244,012 		JBrowse link
G Kcnj8 potassium inwardly rectifying channel subfamily J member 8 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19120683 PMID:20558321 PMID:22056721 PMID:22365152 PMID:22562657 More... NCBI chrNW_004624752:16,939,289...16,945,692
Ensembl chrNW_004624752:16,939,384...16,946,723 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19716085 PMID:22581653 PMID:23396983 PMID:24033266 PMID:24055113 More... NCBI chrNW_004624767:15,252,961...15,613,373
Ensembl chrNW_004624767:15,252,950...15,613,562 		JBrowse link
G Klhl24 kelch like family member 24 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004624730:72,803,070...72,843,627
Ensembl chrNW_004624730:72,807,780...72,844,190 		JBrowse link
G Klhl41 kelch like family member 41 ISO RGD PMID:11583900 RGD:1580798 NCBI chrNW_004624787:7,065,121...7,077,857
Ensembl chrNW_004624787:7,065,137...7,077,841 		JBrowse link
G Lactb lactamase beta ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624781:9,365,231...9,381,639
Ensembl chrNW_004624781:9,365,472...9,381,580 		JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624753:3,194,678...3,794,145
Ensembl chrNW_004624753:3,336,227...3,793,940 		JBrowse link
G Lamp2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:15673802 PMID:16199547 PMID:16217705 PMID:17576681 More... NCBI chrNW_004624931:297,864...343,314
Ensembl chrNW_004624931:298,328...343,915 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17235623 PMID:17394203 PMID:17438622 PMID:20474083 PMID:23299917 More... NCBI chrNW_004624841:426,300...471,855
Ensembl chrNW_004624841:426,330...471,682 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:2338570 PMID:2753225 PMID:23183350 PMID:23328570 PMID:24033266 More... NCBI chrNW_004624885:1,423,563...1,466,657
Ensembl chrNW_004624885:1,447,395...1,467,554 		JBrowse link
G LOC101701066 cytochrome P450 1B1 ISO mRNA, protein:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chrNW_004624738:19,639,215...19,647,807
Ensembl chrNW_004624738:19,638,456...19,647,497 		JBrowse link
G LOC101707509 cytochrome P450 1A1 ISO mRNA, protein:increased expression:heart (rat)
mRNA:increased expression:heatt (rat)		 RGD PMID:19889059 PMID:24247421 RGD:401793741 RGD:401794453 NCBI chrNW_004627988:7...1,323 JBrowse link
G LOC101715399 cytochrome c oxidase assembly protein COX15 homolog ISO RGD PMID:12474143 RGD:1598468 NCBI chrNW_004624737:11,435,006...11,452,934
Ensembl chrNW_004624737:11,435,074...11,453,727 		JBrowse link
G LOC101719627 cytochrome b-c1 complex subunit 1, mitochondrial ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004624730:2,603,301...2,613,105
Ensembl chrNW_004624730:2,603,089...2,613,828 		JBrowse link
G LOC101722366 cytochrome P450 2E1 ISO mRNA, protein:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chrNW_004624737:12,335,733...12,345,278
Ensembl chrNW_004624737:12,335,681...12,345,514 		JBrowse link
G LOC106007592 protein SCO2 homolog, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10749987 PMID:11027508 PMID:14970747 RGD:1580020 NCBI chrNW_004624752:256,243...257,829
Ensembl chrNW_004624752:256,376...257,825 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624770:13,158,111...13,200,818
Ensembl chrNW_004624770:13,159,903...13,203,643 		JBrowse link
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624767:1,708,866...1,757,629 JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO DNA:missense mutation:c.1394C>T p.A465V, c.1330G>A p.D444N (human) RGD PMID:32004086 RGD:151708727 NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564 		JBrowse link
G Madd MAP kinase activating death domain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624767:1,421,603...1,459,738
Ensembl chrNW_004624767:1,421,603...1,459,507 		JBrowse link
G Map1lc3a microtubule associated protein 1 light chain 3 alpha ISO protein:increased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chrNW_004624842:4,800,533...4,802,235
Ensembl chrNW_004624842:4,800,539...4,802,094 		JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624828:5,489,085...5,511,166
Ensembl chrNW_004624828:5,488,814...5,511,445 		JBrowse link
G Map3k7 mitogen-activated protein kinase kinase kinase 7 treatment ISO protein:increased phosphorylation:heart (human) RGD PMID:27249171 RGD:155646134 NCBI chrNW_004624799:3,554,644...3,623,317
Ensembl chrNW_004624799:3,554,678...3,622,289 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004624730:69,569,046...69,632,401
Ensembl chrNW_004624730:69,568,915...69,632,470 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:12952838 RGD:1582538 NCBI chrNW_004624878:71,642...79,660
Ensembl chrNW_004624878:71,642...79,602 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:plasma RGD PMID:18585501 RGD:5130889 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma RGD PMID:18585501 RGD:5130889 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G Mtpn myotrophin ISO MouseDO NCBI chrNW_004624765:16,182,691...16,218,634
Ensembl chrNW_004624765:16,181,809...16,218,720 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:208208 More... NCBI chrNW_004624767:1,406,563...1,420,778
Ensembl chrNW_004624767:1,406,587...1,420,436 		JBrowse link
G Mybphl myosin binding protein H like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004624772:5,022,255...5,042,891
Ensembl chrNW_004624772:5,024,338...5,042,234 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000973 NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806 		JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004624842:4,395,859...4,442,557
Ensembl chrNW_004624842:4,395,859...4,433,985 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624770:13,378,668...13,408,633
Ensembl chrNW_004624770:13,393,106...13,409,139
Ensembl chrNW_004624770:13,393,106...13,409,139 		JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:203862 PMID:08673105 PMID:09535554 PMID:9536098 PMID:9724616 More... NCBI chrNW_004624747:21,108,998...21,113,993
Ensembl chrNW_004624747:21,109,061...21,113,993 		JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:6211078 PMID:08673105 PMID:9536098 PMID:9927691 PMID:10948063 More... NCBI chrNW_004624730:74,405,054...74,408,567
Ensembl chrNW_004624730:74,404,915...74,408,752 		JBrowse link
G Myl4 myosin light chain 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chrNW_004624849:1,982,217...2,027,005
Ensembl chrNW_004624849:1,982,068...1,994,930 		JBrowse link
G Myl7 myosin light chain 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chrNW_004624740:7,887,715...7,889,666
Ensembl chrNW_004624740:7,887,747...7,889,666 		JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31513939 NCBI chrNW_004624741:680,230...693,895
Ensembl chrNW_004624741:680,016...693,908 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21256114 PMID:24033266 More... NCBI chrNW_004624770:13,239,572...13,356,041
Ensembl chrNW_004624770:13,239,723...13,355,954 		JBrowse link
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:16199547 PMID:17347475 PMID:17434779 PMID:17576681 More... NCBI chrNW_004624867:5,947,671...5,987,804
Ensembl chrNW_004624867:5,947,521...5,989,426 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18006477 PMID:20801532 PMID:22286171 PMID:23861362 PMID:24033266 More... NCBI chrNW_004624754:2,466,980...2,596,288
Ensembl chrNW_004624754:2,467,071...2,598,386 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chrNW_004624765:9,962,254...9,993,790
Ensembl chrNW_004624765:9,962,447...9,993,790 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 susceptibility ISO associated with Mitochondrial Encephalomyopathies;DNA:missense mutations: :p.R228Q, p.P229Q, p.S413P (human) RGD PMID:11220739 RGD:1600573 NCBI chrNW_004624794:172,543...189,031
Ensembl chrNW_004624794:172,707...185,073 		JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20951326 PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 More... NCBI chrNW_004624796:7,133,915...7,498,706
Ensembl chrNW_004624796:7,133,923...7,493,673 		JBrowse link
G Nexn nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19881492 PMID:24033266 PMID:25163546 PMID:25741868 PMID:26659360 More... NCBI chrNW_004624742:19,313,262...19,357,052
Ensembl chrNW_004624742:19,313,264...19,349,394 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624733:16,881,189...16,884,245
Ensembl chrNW_004624733:16,881,191...16,884,210 		JBrowse link
G Nmnat2 nicotinamide nucleotide adenylyltransferase 2 ISO protein:decreased expression, decreased activity:heart RGD PMID:22449973 RGD:13782043 NCBI chrNW_004624814:10,288,746...10,470,476
Ensembl chrNW_004624814:10,293,074...10,466,691 		JBrowse link
G Npm1 nucleophosmin 1 ISO protein:increased expression:cardiomyocyte: RGD PMID:21444791 RGD:11535018 NCBI chrNW_004624733:18,645,269...18,655,073 JBrowse link
G Nppa natriuretic peptide A treatment ISO protein:decreased expression:cardiomyocyte
mRNA:increased expression:heart (rat)
protein:increased expression:heart (human)
mRNA:increased expression:heatt (rat)		 RGD PMID:19889059 PMID:24247421 PMID:25820375 PMID:27249171 RGD:13792650 RGD:155646134 RGD:401793741 RGD:401794453 NCBI chrNW_004624818:1,147,654...1,149,722
Ensembl chrNW_004624818:1,147,974...1,148,927 		JBrowse link
G Nppb natriuretic peptide B ISO mRNA:increased expression:heart (rat)
mRNA:increased expression:heatt (rat)		 RGD PMID:19889059 PMID:24247421 RGD:401793741 RGD:401794453 NCBI chrNW_004624818:1,139,776...1,141,010 JBrowse link
G Nr1h3 nuclear receptor subfamily 1 group H member 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624767:1,459,601...1,473,224
Ensembl chrNW_004624767:1,459,601...1,467,795 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004624755:25,510,329...25,588,540
Ensembl chrNW_004624755:25,509,301...25,588,204 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004624731:3,367,645...3,384,815
Ensembl chrNW_004624731:3,370,701...3,385,640 		JBrowse link
G Pacsin3 protein kinase C and casein kinase substrate in neurons 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624767:1,505,617...1,512,606
Ensembl chrNW_004624767:1,505,633...1,512,610 		JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17254821 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624769:16,341,297...16,374,106
Ensembl chrNW_004624769:16,340,494...16,374,208 		JBrowse link
G Pepd peptidase D ISO MouseDO NCBI chrNW_004624794:9,602,497...9,724,260
Ensembl chrNW_004624794:9,602,487...9,724,260 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO MouseDO NCBI chrNW_004624913:118,520...166,939
Ensembl chrNW_004624913:118,733...165,859 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:16567567 PMID:17556197 PMID:19863551 PMID:19955750 PMID:20525856 More... NCBI chrNW_004624778:3,261,446...3,344,204
Ensembl chrNW_004624778:3,261,390...3,342,850 		JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More... NCBI chrNW_004624798:11,522,245...11,528,741
Ensembl chrNW_004624798:11,522,269...11,528,775 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:1539879 PMID:7847370 PMID:11555352 PMID:12210792 PMID:12297582 More... NCBI chrNW_004624768:16,493,123...16,509,747
Ensembl chrNW_004624768:16,491,555...16,509,900 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2536513 PMID:2831920 PMID:2853496 PMID:8381257 PMID:8928979 NCBI chrNW_004624738:7,442,223...7,448,513
Ensembl chrNW_004624738:7,442,292...7,445,020 		JBrowse link
G Ppp6r1 protein phosphatase 6 regulatory subunit 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624832:2,013,539...2,034,854
Ensembl chrNW_004624832:2,023,166...2,034,958 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:762819 PMID:2526523 PMID:9536098 PMID:10355918 PMID:10368461 More... NCBI chrNW_004624800:4,969,010...5,207,941
Ensembl chrNW_004624800:4,968,866...5,207,501 		JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624767:1,361,970...1,367,282
Ensembl chrNW_004624767:1,362,132...1,372,083 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:11992261 PMID:12058348 PMID:12960218 PMID:14644997 PMID:14961557 More... NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
G Ptprh protein tyrosine phosphatase receptor type H ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624832:2,042,358...2,071,454 JBrowse link
G Rab8b RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624781:9,253,039...9,324,873
Ensembl chrNW_004624781:9,251,212...9,325,642 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17603482 PMID:17603483 NCBI chrNW_004624872:204,357...284,487
Ensembl chrNW_004624872:204,357...269,135 		JBrowse link
G Rapsn receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624767:1,350,820...1,358,107
Ensembl chrNW_004624767:1,351,370...1,358,187 		JBrowse link
G Rassf1 Ras association domain family member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19652091 NCBI chrNW_004624730:4,181,207...4,190,603
Ensembl chrNW_004624730:4,181,462...4,190,431 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22004663 PMID:24033266 PMID:24503780 PMID:25637381 PMID:25741868 More... NCBI chrNW_004624737:35,479,621...35,660,357
Ensembl chrNW_004624737:35,477,521...35,545,242 		JBrowse link
G Retn resistin ISO DNA, protein:SNP, increased expression:promoter, serum:-420G>C (rs1862513) (human) RGD PMID:20171599 RGD:7207251 NCBI chrNW_004624828:735,562...737,166
Ensembl chrNW_004624828:735,503...737,166 		JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004624730:3,617,488...3,645,797
Ensembl chrNW_004624730:3,618,269...3,645,797 		JBrowse link
G Rps27l ribosomal protein S27 like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624781:9,348,549...9,351,631
Ensembl chrNW_004624781:9,347,790...9,352,368 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12459180 PMID:18752142 PMID:19926015 PMID:22787013 PMID:23022705 More... NCBI chrNW_004624775:12,954,653...13,650,449
Ensembl chrNW_004624775:12,956,042...13,419,381 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:10807545 PMID:15689442 PMID:15851227 PMID:16155735 PMID:17227473 More... NCBI chrNW_004624731:2,401,358...2,498,212
Ensembl chrNW_004624731:2,401,380...2,498,211 		JBrowse link
G Sgca sarcoglycan alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624795:6,152,317...6,162,190
Ensembl chrNW_004624795:6,152,323...6,161,359 		JBrowse link
G Sgcb sarcoglycan beta ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624761:17,670,920...17,690,513
Ensembl chrNW_004624761:17,670,887...17,688,659 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... NCBI chrNW_004624769:15,989,527...15,993,609
Ensembl chrNW_004624769:15,989,547...15,997,680 		JBrowse link
G Slc30a5 solute carrier family 30 member 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:33547425 NCBI chrNW_004624815:134,290...172,177
Ensembl chrNW_004624815:134,723...172,230 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624767:1,368,965...1,376,378
Ensembl chrNW_004624767:1,368,965...1,375,586 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19111554 NCBI chrNW_004624764:11,041,118...11,095,892
Ensembl chrNW_004624764:11,039,051...11,095,885 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624770:13,000,532...13,123,346
Ensembl chrNW_004624770:13,000,316...13,124,031 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 More... NCBI chrNW_004624738:20,466,120...20,591,966
Ensembl chrNW_004624738:20,466,117...20,591,910 		JBrowse link
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624767:1,376,649...1,404,382
Ensembl chrNW_004624767:1,394,704...1,404,406 		JBrowse link
G Syt5 synaptotagmin 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624832:2,071,782...2,080,680
Ensembl chrNW_004624832:2,071,770...2,078,376 		JBrowse link
G Tbca tubulin folding cofactor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chrNW_004624869:2,153,427...2,228,166
Ensembl chrNW_004624869:2,153,570...2,228,543 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:16352453 PMID:17097056 PMID:19035361 PMID:20474083 PMID:22194935 More... NCBI chrNW_004624795:3,411,744...3,414,229
Ensembl chrNW_004624795:3,410,951...3,413,052 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO RGD PMID:22134166 RGD:11073617 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Tgfb3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25637381 PMID:25741868 PMID:25835445 PMID:28492532 More... NCBI chrNW_004624734:25,717,011...25,739,942
Ensembl chrNW_004624734:25,716,972...25,739,199 		JBrowse link
G Tgif1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624770:13,506,501...13,515,388
Ensembl chrNW_004624770:13,508,409...13,516,457 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:15056834 RGD:1580653 NCBI chrNW_004624801:8,228,618...8,270,606
Ensembl chrNW_004624801:8,228,357...8,270,982 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18313022 PMID:19467449 PMID:20010364 PMID:21214875 PMID:22458570 More... NCBI chrNW_004624872:1,467,531...1,481,057
Ensembl chrNW_004624872:1,467,440...1,481,044 		JBrowse link
G Tmem86b transmembrane protein 86B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624832:2,035,437...2,036,674
Ensembl chrNW_004624832:2,035,472...2,036,510 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31983221 NCBI chrNW_004624750:9,009,085...9,036,713
Ensembl chrNW_004624750:9,009,085...9,036,747 		JBrowse link
G Tnnc1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18572189 PMID:19439414 PMID:20459070 PMID:21056975 PMID:22489623 More... NCBI chrNW_004624822:4,763,285...4,767,810
Ensembl chrNW_004624822:4,764,742...4,770,293 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:3144325 PMID:3349559 PMID:7592712 PMID:9241277 PMID:9536098 More... NCBI chrNW_004624832:2,088,455...2,092,774
Ensembl chrNW_004624832:2,088,589...2,092,771 		JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624832:2,093,852...2,100,647
Ensembl chrNW_004624832:2,094,903...2,100,560 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:209262 PMID:541918 PMID:2003160 PMID:2946667 PMID:7898523 More... NCBI chrNW_004624807:9,332,202...9,348,610
Ensembl chrNW_004624807:9,336,904...9,348,396 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000973 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chrNW_004624781:9,414,500...9,442,357
Ensembl chrNW_004624781:9,414,500...9,442,544 		JBrowse link
G Traf6 TNF receptor associated factor 6 treatment ISO protein:increased expression:heart (human) RGD PMID:27249171 RGD:155646134 NCBI chrNW_004624767:10,729,766...10,803,253
Ensembl chrNW_004624767:10,729,413...10,748,455 		JBrowse link
G Trim63 tripartite motif containing 63 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22821932 PMID:24436435 PMID:25741868 PMID:25801283 PMID:28492532 More... NCBI chrNW_004624764:10,126,345...10,139,829
Ensembl chrNW_004624764:10,128,751...10,139,687 		JBrowse link
G Trpm4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23382873 PMID:25741868 PMID:28492532 NCBI chrNW_004624832:4,902,335...4,937,806
Ensembl chrNW_004624832:4,902,659...4,936,926 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:17344846 PMID:17576681 PMID:18414213 PMID:23396983 More... NCBI chrNW_004624844:484,593...760,155 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:2349941 PMID:7868124 PMID:14640030 PMID:20840742 PMID:25741868 More... NCBI chrNW_004624770:1,255,401...1,262,019
Ensembl chrNW_004624770:1,251,716...1,262,213 		JBrowse link
G Ucn urocortin ISO RGD PMID:14577573 RGD:1580792 NCBI chrNW_004624738:9,393,004...9,393,966
Ensembl chrNW_004624738:9,393,329...9,393,706 		JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624781:8,918,532...9,016,022
Ensembl chrNW_004624781:8,918,526...9,016,070 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:16712796 PMID:23299917 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chrNW_004624754:7,484,759...7,590,108
Ensembl chrNW_004624754:7,484,773...7,590,108 		JBrowse link
G Xirp1 xin actin binding repeat containing 1 ISO MouseDO NCBI chrNW_004624731:1,779,004...1,788,668
Ensembl chrNW_004624731:1,782,128...1,787,647 		JBrowse link
G Yy1 YY1 transcription factor ISO RGD PMID:12754214 RGD:1580831 NCBI chrNW_004624734:3,846,753...3,875,294
Ensembl chrNW_004624734:3,846,765...3,875,294 		JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22 OMIM
ClinVar		 PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More... NCBI chrNW_004624819:2,835,783...2,999,819
Ensembl chrNW_004624819:2,896,374...2,999,819 		JBrowse link
COX deficiency, infantile mitochondrial myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC106007592 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:12529715 PMID:14970747 More... NCBI chrNW_004624752:256,243...257,829
Ensembl chrNW_004624752:256,376...257,825 		JBrowse link
G Ncaph2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 More... NCBI chrNW_004624752:257,885...268,971
Ensembl chrNW_004624752:258,039...268,737 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624752:251,670...256,243
Ensembl chrNW_004624752:252,937...256,244 		JBrowse link
familial hypertrophic cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624752:16,792,202...16,926,552
Ensembl chrNW_004624752:16,792,165...16,927,293 		JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004624786:9,838,102...9,843,506
Ensembl chrNW_004624786:9,838,227...9,843,332 		JBrowse link
G Actc1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 More... NCBI chrNW_004624804:2,006,439...2,011,809
Ensembl chrNW_004624804:2,005,997...2,011,023 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:14567970 PMID:16199547 PMID:17097056 PMID:17576681 More... NCBI chrNW_004624775:13,917,215...13,989,093
Ensembl chrNW_004624775:13,916,883...13,989,153 		JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chrNW_004624737:2,127,253...2,136,181
Ensembl chrNW_004624737:2,127,267...2,136,347 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31395899 PMID:33874732 NCBI chrNW_004624737:27,171,402...27,195,008
Ensembl chrNW_004624737:27,171,402...27,195,004 		JBrowse link
G Calm3 calmodulin 3 susceptibility ISO DNA:polymorphism:promoter:¿¿¿34T>A(human) RGD PMID:19429631 RGD:13792494 NCBI chrNW_004624832:6,957,775...6,966,505
Ensembl chrNW_004624832:6,958,820...6,966,514 		JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004624908:949,709...962,114
Ensembl chrNW_004624908:949,783...961,667 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:14672715 PMID:15580566 NCBI chrNW_004624731:3,348,172...3,363,772
Ensembl chrNW_004624731:3,347,984...3,364,581 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333 		JBrowse link
G Cryab crystallin alpha B ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More... NCBI chrNW_004624784:7,074,590...7,093,471
Ensembl chrNW_004624784:7,074,590...7,093,054 		JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:12642359 PMID:14567970 PMID:16199547 PMID:16352453 PMID:20087448 More... NCBI chrNW_004624766:10,611,798...10,631,567
Ensembl chrNW_004624766:10,611,804...10,631,490 		JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:11058912 PMID:24033266 PMID:26084686 PMID:28492532 NCBI chrNW_004624782:13,976,308...13,979,327 JBrowse link
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624754:285,469...2,182,218
Ensembl chrNW_004624754:285,857...2,034,582 		JBrowse link
G CUNH2orf49 chromosome unknown C2orf49 homolog ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004624749:9,437,322...9,448,119
Ensembl chrNW_004624749:9,437,273...9,445,644 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:17221859 PMID:18653338 PMID:19151983 PMID:20171226 PMID:20423733 More... NCBI chrNW_004624823:5,624,958...5,632,234
Ensembl chrNW_004624823:5,622,283...5,632,283 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004624786:9,811,201...9,835,660
Ensembl chrNW_004624786:9,811,780...9,837,100 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28569743 PMID:31333075 More... NCBI chrNW_004624762:22,306,962...24,846,427
Ensembl chrNW_004624762:22,746,729...24,847,938 		JBrowse link
G Dnaaf3 dynein axonemal assembly factor 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624832:2,081,239...2,087,833
Ensembl chrNW_004624832:2,082,494...2,087,537 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:7971964 PMID:17033975 PMID:20031616 PMID:20031617 PMID:20197793 More... NCBI chrNW_004624770:1,748,561...1,778,566
Ensembl chrNW_004624770:1,748,276...1,781,117 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chrNW_004624770:1,315,021...1,363,472
Ensembl chrNW_004624770:1,313,916...1,364,153 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy		 ClinVar PMID:18632414 PMID:19924139 PMID:20738328 PMID:23381804 PMID:23861362 More... NCBI chrNW_004624756:18,036,103...18,083,379
Ensembl chrNW_004624756:18,035,892...18,083,336 		JBrowse link
G Dtna dystrobrevin alpha ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624779:8,948,578...9,329,459
Ensembl chrNW_004624779:8,948,499...9,329,550 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624946:805,573...808,001
Ensembl chrNW_004624946:801,639...808,162 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004624753:7,536,654...7,680,671
Ensembl chrNW_004624753:7,548,694...7,677,472 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25246303 PMID:25965631 PMID:26857240 PMID:28492532 PMID:33673806 More... NCBI chrNW_004624808:10,924,606...10,984,422
Ensembl chrNW_004624808:10,924,248...10,965,164 		JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004624749:9,453,081...9,507,050
Ensembl chrNW_004624749:9,453,088...9,483,009 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26555887 PMID:28492532 PMID:31513939 PMID:32112656 NCBI chrNW_004624783:7,334,421...7,360,795
Ensembl chrNW_004624783:7,334,312...7,361,134 		JBrowse link
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:2171331 PMID:8738659 PMID:8878432 PMID:9100224 PMID:9395081 More... NCBI chrNW_004624902:1,163,360...1,173,087
Ensembl chrNW_004624902:1,163,611...1,173,177 		JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More... NCBI chrNW_004624788:10,173,629...10,240,200
Ensembl chrNW_004624788:10,173,551...10,240,704 		JBrowse link
G Ilk integrin linked kinase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:11402068 PMID:11694518 PMID:14745274 PMID:16199547 More... NCBI chrNW_004624817:8,096,539...8,103,096
Ensembl chrNW_004624817:8,096,898...8,106,683 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25500949 PMID:25741868 PMID:28492532 PMID:30235249 More... NCBI chrNW_004624790:10,250,403...10,320,279
Ensembl chrNW_004624790:10,250,472...10,319,110 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:21859740 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27662471 More... NCBI chrNW_004624795:1,954,733...1,972,080
Ensembl chrNW_004624795:1,954,290...1,975,018 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:15368194 PMID:16487223 PMID:17310097 PMID:22581653 PMID:24681347 More... NCBI chrNW_004624745:22,552,809...22,553,321
Ensembl chrNW_004624745:22,525,037...22,556,000 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:11222472 PMID:11468227 PMID:11668638 PMID:14998624 PMID:20167303 More... NCBI chrNW_004624800:5,633,060...5,663,700
Ensembl chrNW_004624800:5,632,726...5,663,771 		JBrowse link
G Lamp2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:28492532 NCBI chrNW_004624931:297,864...343,314
Ensembl chrNW_004624931:298,328...343,915 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29247119 PMID:30847666 PMID:31333075 More... NCBI chrNW_004624841:426,300...471,855
Ensembl chrNW_004624841:426,330...471,682 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:8621584 PMID:9536098 PMID:12057196 PMID:16407522 PMID:16585054 More... NCBI chrNW_004624885:1,423,563...1,466,657
Ensembl chrNW_004624885:1,447,395...1,467,554 		JBrowse link
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004624770:9,936,202...10,051,018
Ensembl chrNW_004624770:9,941,706...10,051,024 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy		 ClinVar PMID:203962 PMID:203979 PMID:208206 PMID:208208 PMID:739990 More... NCBI chrNW_004624767:1,406,563...1,420,778
Ensembl chrNW_004624767:1,406,587...1,420,436 		JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:08673105 PMID:09535554 PMID:11102452 PMID:11748309 PMID:12404107 More... NCBI chrNW_004624747:21,108,998...21,113,993
Ensembl chrNW_004624747:21,109,061...21,113,993 		JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:8673105 PMID:11174330 PMID:12021217 PMID:16754800 PMID:18409188 More... NCBI chrNW_004624730:74,405,054...74,408,567
Ensembl chrNW_004624730:74,404,915...74,408,752 		JBrowse link
G Myl9 myosin light chain 9 ISO RGD PMID:16076902 RGD:1582589 NCBI chrNW_004624842:2,975,992...2,982,956
Ensembl chrNW_004624842:2,975,987...2,982,953 		JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624741:680,230...693,895
Ensembl chrNW_004624741:680,016...693,908 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624770:13,239,572...13,356,041
Ensembl chrNW_004624770:13,239,723...13,355,954 		JBrowse link
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chrNW_004624867:5,947,671...5,987,804
Ensembl chrNW_004624867:5,947,521...5,989,426 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:18006477 PMID:25741868 PMID:26084686 PMID:28492532 PMID:28798025 More... NCBI chrNW_004624754:2,466,980...2,596,288
Ensembl chrNW_004624754:2,467,071...2,598,386 		JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More... NCBI chrNW_004624796:7,133,915...7,498,706
Ensembl chrNW_004624796:7,133,923...7,493,673 		JBrowse link
G Nexn nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:16199547 PMID:20970104 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chrNW_004624742:19,313,262...19,357,052
Ensembl chrNW_004624742:19,313,264...19,349,394 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:14672715 PMID:15580566 NCBI chrNW_004624731:3,367,645...3,384,815
Ensembl chrNW_004624731:3,370,701...3,385,640 		JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004624769:16,341,297...16,374,106
Ensembl chrNW_004624769:16,340,494...16,374,208 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:19955750 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20857253 More... NCBI chrNW_004624778:3,261,446...3,344,204
Ensembl chrNW_004624778:3,261,390...3,342,850 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chrNW_004624818:6,978,436...7,258,366
Ensembl chrNW_004624818:6,978,436...7,258,357 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy		 ClinVar PMID:10355918 PMID:10820940 PMID:11407343 PMID:11407351 PMID:11586962 More... NCBI chrNW_004624800:4,969,010...5,207,941
Ensembl chrNW_004624800:4,968,866...5,207,501 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:12077328 PMID:17603482 PMID:17603483 PMID:17603486 PMID:17603487 More... NCBI chrNW_004624872:204,357...284,487
Ensembl chrNW_004624872:204,357...269,135 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25163546 PMID:25351510 PMID:25741868 PMID:28492532 PMID:30847666 More... NCBI chrNW_004624737:35,479,621...35,660,357
Ensembl chrNW_004624737:35,477,521...35,545,242 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy		 ClinVar PMID:12459180 PMID:19216760 PMID:19926015 PMID:20132818 PMID:22787013 More... NCBI chrNW_004624775:12,954,653...13,650,449
Ensembl chrNW_004624775:12,956,042...13,419,381 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:8661019 PMID:10690282 PMID:10727653 PMID:11823453 PMID:12639704 More... NCBI chrNW_004624731:2,401,358...2,498,212
Ensembl chrNW_004624731:2,401,380...2,498,211 		JBrowse link
G Shoc2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624737:35,318,263...35,401,787
Ensembl chrNW_004624737:35,319,767...35,401,044 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:27763634 PMID:28492532 NCBI chrNW_004624738:20,466,120...20,591,966
Ensembl chrNW_004624738:20,466,117...20,591,910 		JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:11402068 PMID:11694518 PMID:14745274 PMID:16199547 More... NCBI chrNW_004624817:8,103,065...8,104,435
Ensembl chrNW_004624817:8,103,065...8,104,420 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624946:871,618...885,331
Ensembl chrNW_004624946:871,901...879,508 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:10655062 PMID:15582318 PMID:16352453 PMID:16911908 PMID:17097056 More... NCBI chrNW_004624795:3,411,744...3,414,229
Ensembl chrNW_004624795:3,410,951...3,413,052 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26214305 PMID:28492532 PMID:33552729 NCBI chrNW_004624872:1,467,531...1,481,057
Ensembl chrNW_004624872:1,467,440...1,481,044 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004624750:9,009,085...9,036,713
Ensembl chrNW_004624750:9,009,085...9,036,747 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10806205 More... NCBI chrNW_004624832:2,088,455...2,092,774
Ensembl chrNW_004624832:2,088,589...2,092,771 		JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624832:2,093,852...2,100,647
Ensembl chrNW_004624832:2,094,903...2,100,560 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:209262 PMID:541918 PMID:2946667 PMID:7898523 PMID:8205619 More... NCBI chrNW_004624807:9,332,202...9,348,610
Ensembl chrNW_004624807:9,336,904...9,348,396 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chrNW_004624781:9,414,500...9,442,357
Ensembl chrNW_004624781:9,414,500...9,442,544 		JBrowse link
G Trim63 tripartite motif containing 63 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:22821932 PMID:24436435 PMID:25741868 PMID:25801283 PMID:28492532 More... NCBI chrNW_004624764:10,126,345...10,139,829
Ensembl chrNW_004624764:10,128,751...10,139,687 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy		 ClinVar PMID:11846417 PMID:18414213 PMID:18948003 PMID:23396983 PMID:23861362 More... NCBI chrNW_004624844:484,593...760,155 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26537620 PMID:28492532 PMID:30683924 PMID:31554435 NCBI chrNW_004624770:1,255,401...1,262,019
Ensembl chrNW_004624770:1,251,716...1,262,213 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624747:485,012...569,175
Ensembl chrNW_004624747:514,158...569,154 		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 chrNW_004624754:7,484,759...7,590,108
Ensembl chrNW_004624754:7,484,773...7,590,108 		JBrowse link
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 19 ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:29988065 PMID:30847666 NCBI chrNW_004624908:949,709...962,114
Ensembl chrNW_004624908:949,783...961,667 		JBrowse link
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 30, ATRIAL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Corin corin, serine peptidase ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 30, atrial OMIM
ClinVar		 PMID:25741868 PMID:37913506 NCBI chrNW_004624761:19,089,111...19,404,148
Ensembl chrNW_004624761:19,089,424...19,404,952 		JBrowse link
hypertrophic cardiomyopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actc1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 More... NCBI chrNW_004624804:2,006,439...2,011,809
Ensembl chrNW_004624804:2,005,997...2,011,023 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:9536098 PMID:14567970 PMID:16199547 PMID:17097056 PMID:17576681 More... NCBI chrNW_004624775:13,917,215...13,989,093
Ensembl chrNW_004624775:13,916,883...13,989,153 		JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:16199547 PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chrNW_004624737:2,127,253...2,136,181
Ensembl chrNW_004624737:2,127,267...2,136,347 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:28492532 PMID:31395899 PMID:33874732 NCBI chrNW_004624737:27,171,402...27,195,008
Ensembl chrNW_004624737:27,171,402...27,195,004 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 ClinVar PMID:25741868 PMID:26253506 PMID:28492532 PMID:30025578 PMID:30172029 More... NCBI chrNW_004624735:10,201,030...10,927,349
Ensembl chrNW_004624735:10,201,526...10,432,896 		JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:17655857 PMID:23861362 More... NCBI chrNW_004624908:949,709...962,114
Ensembl chrNW_004624908:949,783...961,667 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19		 OMIM
ClinVar		 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 PMID:11251997 More... NCBI chrNW_004624731:3,348,172...3,363,772
Ensembl chrNW_004624731:3,347,984...3,364,581 		JBrowse link
G Cryab crystallin alpha B ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More... NCBI chrNW_004624784:7,074,590...7,093,471
Ensembl chrNW_004624784:7,074,590...7,093,054 		JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:16352453 PMID:17097056 PMID:18505755 PMID:23299917 PMID:23396983 More... NCBI chrNW_004624766:10,611,798...10,631,567
Ensembl chrNW_004624766:10,611,804...10,631,490 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:17221859 PMID:18653338 PMID:19151983 PMID:20171226 PMID:20423733 More... NCBI chrNW_004624823:5,624,958...5,632,234
Ensembl chrNW_004624823:5,622,283...5,632,283 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28569743 PMID:31333075 More... NCBI chrNW_004624762:22,306,962...24,846,427
Ensembl chrNW_004624762:22,746,729...24,847,938 		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 chrNW_004624770:1,748,561...1,778,566
Ensembl chrNW_004624770:1,748,276...1,781,117 		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 chrNW_004624770:1,315,021...1,363,472
Ensembl chrNW_004624770:1,313,916...1,364,153 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:18632414 PMID:19924139 PMID:20738328 PMID:23381804 PMID:23861362 More... NCBI chrNW_004624756:18,036,103...18,083,379
Ensembl chrNW_004624756:18,035,892...18,083,336 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25246303 PMID:25965631 PMID:26857240 PMID:28492532 PMID:33673806 More... NCBI chrNW_004624808:10,924,606...10,984,422
Ensembl chrNW_004624808:10,924,248...10,965,164 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:26555887 PMID:28492532 PMID:31513939 PMID:32112656 NCBI chrNW_004624783:7,334,421...7,360,795
Ensembl chrNW_004624783:7,334,312...7,361,134 		JBrowse link
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:2171331 PMID:8738659 PMID:8878432 PMID:9100224 PMID:9395081 More... NCBI chrNW_004624902:1,163,360...1,173,087
Ensembl chrNW_004624902:1,163,611...1,173,177 		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 chrNW_004624788:10,173,629...10,240,200
Ensembl chrNW_004624788:10,173,551...10,240,704 		JBrowse link
G Ilk integrin linked kinase ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:29915097 PMID:33874732 NCBI chrNW_004624817:8,096,539...8,103,096
Ensembl chrNW_004624817:8,096,898...8,106,683 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:17509612 PMID:22389502 PMID:24033266 PMID:25500949 PMID:25741868 More... NCBI chrNW_004624790:10,250,403...10,320,279
Ensembl chrNW_004624790:10,250,472...10,319,110 		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 chrNW_004624795:1,954,733...1,972,080
Ensembl chrNW_004624795:1,954,290...1,975,018 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:15368194 PMID:16487223 PMID:17310097 PMID:22581653 PMID:24681347 More... NCBI chrNW_004624745:22,552,809...22,553,321
Ensembl chrNW_004624745:22,525,037...22,556,000 		JBrowse link
G Lamp2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:28492532 NCBI chrNW_004624931:297,864...343,314
Ensembl chrNW_004624931:298,328...343,915 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:28492532 PMID:29247119 PMID:30847666 PMID:32746448 NCBI chrNW_004624841:426,300...471,855
Ensembl chrNW_004624841:426,330...471,682 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:8621584 PMID:9536098 PMID:10580070 PMID:16407522 PMID:16585054 More... NCBI chrNW_004624885:1,423,563...1,466,657
Ensembl chrNW_004624885:1,447,395...1,467,554 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:25741868 NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:203962 PMID:203979 PMID:208206 PMID:208208 PMID:739990 More... NCBI chrNW_004624767:1,406,563...1,420,778
Ensembl chrNW_004624767:1,406,587...1,420,436 		JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 ClinVar NCBI chrNW_004624842:4,395,859...4,442,557
Ensembl chrNW_004624842:4,395,859...4,433,985 		JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: 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 chrNW_004624747:21,108,998...21,113,993
Ensembl chrNW_004624747:21,109,061...21,113,993 		JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:8673105 PMID:11174330 PMID:12021217 PMID:16754800 PMID:18409188 More... NCBI chrNW_004624730:74,405,054...74,408,567
Ensembl chrNW_004624730:74,404,915...74,408,752 		JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: 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: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 OMIM
ClinVar		 PMID:9536098 PMID:11733062 PMID:17576681 PMID:22995991 PMID:23299917 More... NCBI chrNW_004624741:680,230...693,895
Ensembl chrNW_004624741:680,016...693,908 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624770:13,239,572...13,356,041
Ensembl chrNW_004624770:13,239,723...13,355,954 		JBrowse link
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624867:5,947,671...5,987,804
Ensembl chrNW_004624867:5,947,521...5,989,426 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:26084686 PMID:28492532 PMID:28798025 PMID:30847666 NCBI chrNW_004624754:2,466,980...2,596,288
Ensembl chrNW_004624754:2,467,071...2,598,386 		JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More... NCBI chrNW_004624796:7,133,915...7,498,706
Ensembl chrNW_004624796:7,133,923...7,493,673 		JBrowse link
G Nexn nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:16199547 PMID:20970104 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chrNW_004624742:19,313,262...19,357,052
Ensembl chrNW_004624742:19,313,264...19,349,394 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chrNW_004624731:3,367,645...3,384,815
Ensembl chrNW_004624731:3,370,701...3,385,640 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:19955750 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20857253 More... NCBI chrNW_004624778:3,261,446...3,344,204
Ensembl chrNW_004624778:3,261,390...3,342,850 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:10355918 PMID:10820940 PMID:11407343 PMID:11407351 PMID:11586962 More... NCBI chrNW_004624800:4,969,010...5,207,941
Ensembl chrNW_004624800:4,968,866...5,207,501 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:17603482 PMID:17603483 PMID:17603486 PMID:17603487 PMID:17603489 More... NCBI chrNW_004624872:204,357...284,487
Ensembl chrNW_004624872:204,357...269,135 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25163546 PMID:25351510 PMID:25741868 PMID:28492532 PMID:30847666 More... NCBI chrNW_004624737:35,479,621...35,660,357
Ensembl chrNW_004624737:35,477,521...35,545,242 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:12459180 PMID:19216760 PMID:19926015 PMID:20132818 PMID:22787013 More... NCBI chrNW_004624775:12,954,653...13,650,449
Ensembl chrNW_004624775:12,956,042...13,419,381 		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:10690282 PMID:10727653 PMID:11823453 PMID:12639704 More... NCBI chrNW_004624731:2,401,358...2,498,212
Ensembl chrNW_004624731:2,401,380...2,498,211 		JBrowse link
G Sgcd sarcoglycan delta ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26720722 PMID:28492532 NCBI chrNW_004624733:32,654,754...33,626,227
Ensembl chrNW_004624733:32,663,025...33,080,608 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:27763634 PMID:28492532 NCBI chrNW_004624738:20,466,120...20,591,966
Ensembl chrNW_004624738:20,466,117...20,591,910 		JBrowse link
G Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chrNW_004624731:3,265,644...3,289,618
Ensembl chrNW_004624731:3,258,226...3,288,523 		JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:28492532 PMID:29915097 PMID:33874732 NCBI chrNW_004624817:8,103,065...8,104,435
Ensembl chrNW_004624817:8,103,065...8,104,420 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:10655062 PMID:15582318 PMID:16352453 PMID:16911908 PMID:17097056 More... NCBI chrNW_004624795:3,411,744...3,414,229
Ensembl chrNW_004624795:3,410,951...3,413,052 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:26214305 PMID:28492532 PMID:33552729 NCBI chrNW_004624872:1,467,531...1,481,057
Ensembl chrNW_004624872:1,467,440...1,481,044 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10806205 More... NCBI chrNW_004624832:2,088,455...2,092,774
Ensembl chrNW_004624832:2,088,589...2,092,771 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:209262 PMID:541918 PMID:2946667 PMID:7898523 PMID:8205619 More... NCBI chrNW_004624807:9,332,202...9,348,610
Ensembl chrNW_004624807:9,336,904...9,348,396 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: 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 chrNW_004624781:9,414,500...9,442,357
Ensembl chrNW_004624781:9,414,500...9,442,544 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:18414213 PMID:18948003 PMID:23396983 PMID:23861362 PMID:23975875 More... NCBI chrNW_004624844:484,593...760,155 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:1355416 PMID:1850190 PMID:1997217 PMID:2174830 PMID:2590199 More... NCBI chrNW_004624770:1,255,401...1,262,019
Ensembl chrNW_004624770:1,251,716...1,262,213 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:28492532 NCBI chrNW_004624747:485,012...569,175
Ensembl chrNW_004624747:514,158...569,154 		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 chrNW_004624754:7,484,759...7,590,108
Ensembl chrNW_004624754:7,484,773...7,590,108 		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: CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2 | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 10 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10 ClinVar
OMIM		 PMID:203862 PMID:08673105 PMID:09535554 PMID:9536098 PMID:9673982 More... NCBI chrNW_004624747:21,108,998...21,113,993
Ensembl chrNW_004624747:21,109,061...21,113,993 		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: Hypertrophic cardiomyopathy 11 ClinVar
OMIM		 PMID:676951 PMID:2255271 PMID:9536098 PMID:9563954 PMID:10330430 More... NCBI chrNW_004624804:2,006,439...2,011,809
Ensembl chrNW_004624804:2,005,997...2,011,023 		JBrowse link
G Gjd2 gap junction protein delta 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 ClinVar PMID:18458017 PMID:27125413 PMID:28492532 NCBI chrNW_004624804:1,962,597...1,965,598
Ensembl chrNW_004624804:1,961,865...1,965,673 		JBrowse link
G Lpcat4 lysophosphatidylcholine acyltransferase 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 ClinVar PMID:18458017 PMID:27125413 PMID:28492532 NCBI chrNW_004624825:4,140,274...4,147,810
Ensembl chrNW_004624825:4,136,094...4,147,738 		JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 ClinVar PMID:18458017 PMID:27125413 PMID:28492532 NCBI chrNW_004624825:4,125,455...4,126,229
Ensembl chrNW_004624825:4,125,455...4,126,188 		JBrowse link
G Nutm1 NUT midline carcinoma family member 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 ClinVar PMID:18458017 PMID:27125413 PMID:28492532 NCBI chrNW_004624825:4,126,311...4,140,100
Ensembl chrNW_004624825:4,128,279...4,139,185 		JBrowse link
G Slc12a6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 ClinVar PMID:18458017 PMID:27125413 PMID:28492532 NCBI chrNW_004624804:31,489...105,944
Ensembl chrNW_004624804:31,495...105,949 		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: Hypertrophic cardiomyopathy 12 OMIM
ClinVar		 PMID:8994428 PMID:9039266 PMID:9536098 PMID:12507422 PMID:12642359 More... NCBI chrNW_004624766:10,611,798...10,631,567
Ensembl chrNW_004624766:10,611,804...10,631,490 		JBrowse link
G Igsf22 immunoglobulin superfamily member 22 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chrNW_004624766:10,126,121...10,147,727 JBrowse link
G LOC101715932 L-lactate dehydrogenase C chain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chrNW_004624766:9,882,494...9,943,079
Ensembl chrNW_004624766:9,886,618...9,921,535 		JBrowse link
G Ptpn5 protein tyrosine phosphatase non-receptor type 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chrNW_004624766:10,147,859...10,204,657
Ensembl chrNW_004624766:10,147,840...10,204,238 		JBrowse link
G Spty2d1 SPT2 chromatin protein domain containing 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chrNW_004624766:10,039,232...10,061,908 JBrowse link
G Tmem86a transmembrane protein 86A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chrNW_004624766:10,119,453...10,124,403
Ensembl chrNW_004624766:10,120,479...10,123,228 		JBrowse link
G Tsg101 tumor susceptibility 101 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chrNW_004624766:9,932,190...9,977,725
Ensembl chrNW_004624766:9,934,228...9,977,697 		JBrowse link
G Uevld UEV and lactate/malate dehyrogenase domains ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chrNW_004624766:9,980,103...10,020,786
Ensembl chrNW_004624766:9,981,347...10,021,665 		JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chrNW_004624766:10,556,715...10,608,070
Ensembl chrNW_004624766:10,556,645...10,608,083 		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 term: Hypertrophic cardiomyopathy 13 OMIM
ClinVar		 PMID:9536098 PMID:11385718 PMID:16302972 PMID:17576681 PMID:18042489 More... NCBI chrNW_004624822:4,763,285...4,767,810
Ensembl chrNW_004624822:4,764,742...4,770,293 		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: Hypertrophic cardiomyopathy 14 ClinVar PMID:25741868 NCBI chrNW_004624841:426,300...471,855
Ensembl chrNW_004624841:426,330...471,682 		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 term: Hypertrophic cardiomyopathy 15 | ClinVar Annotator: match by term: VCL-related condition OMIM
ClinVar		 PMID:11815424 PMID:16236538 PMID:16712796 PMID:16949038 PMID:17097056 More... NCBI chrNW_004624754:7,484,759...7,590,108
Ensembl chrNW_004624754:7,484,773...7,590,108 		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: Hypertrophic cardiomyopathy 16 | ClinVar Annotator: match by term: MYOZ2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17347475 PMID:17434779 PMID:17576681 PMID:19472918 More... NCBI chrNW_004624867:5,947,671...5,987,804
Ensembl chrNW_004624867:5,947,521...5,989,426 		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: Hypertrophic cardiomyopathy 17 | ClinVar Annotator: match by term: JPH2-related condition OMIM
ClinVar		 PMID:17476457 PMID:17509612 PMID:22389502 PMID:22584458 PMID:23757202 More... NCBI chrNW_004624790:10,250,403...10,320,279
Ensembl chrNW_004624790:10,250,472...10,319,110 		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 Annotator: match by term: Hypertrophic cardiomyopathy 18 ClinVar PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16829191 More... NCBI chrNW_004624798:11,482,163...11,592,698
Ensembl chrNW_004624798:11,482,438...11,593,028 		JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 18 OMIM
ClinVar		 PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16829191 More... NCBI chrNW_004624798:11,522,245...11,528,741
Ensembl chrNW_004624798:11,522,269...11,528,775 		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 term: Hypertrophic cardiomyopathy 2 OMIM
ClinVar		 PMID:181617 PMID:209243 PMID:209262 PMID:541918 PMID:936231 More... NCBI chrNW_004624807:9,332,202...9,348,610
Ensembl chrNW_004624807:9,336,904...9,348,396 		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 term: Hypertrophic cardiomyopathy 20 | ClinVar Annotator: match by term: NEXN-related condition ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19881492 PMID:20970104 More... NCBI chrNW_004624742:19,313,262...19,357,052
Ensembl chrNW_004624742:19,313,264...19,349,394 		JBrowse link
hypertrophic cardiomyopathy 21 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: Hypertrophic cardiomyopathy 21 ClinVar PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532 PMID:33673806 More... NCBI chrNW_004624781:9,414,500...9,442,357
Ensembl chrNW_004624781:9,414,500...9,442,544 		JBrowse link
hypertrophic cardiomyopathy 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casc3 CASC3 exon junction complex subunit ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:3,048,800...3,068,432
Ensembl chrNW_004624795:3,046,880...3,068,840 		JBrowse link
G Cdc6 cell division cycle 6 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:2,980,334...2,992,579
Ensembl chrNW_004624795:2,980,185...2,992,330 		JBrowse link
G Csf3 colony stimulating factor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:3,373,313...3,391,509
Ensembl chrNW_004624795:3,373,000...3,391,602 		JBrowse link
G Grb7 growth factor receptor bound protein 7 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:3,359,119...3,366,802
Ensembl chrNW_004624795:3,357,469...3,365,425 		JBrowse link
G Gsdma gasdermin A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:3,182,256...3,191,744
Ensembl chrNW_004624795:3,182,512...3,190,640 		JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:3,222,170...3,347,079
Ensembl chrNW_004624795:3,290,078...3,345,533 		JBrowse link
G Lrrc3c leucine rich repeat containing 3C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:3,196,900...3,200,396
Ensembl chrNW_004624795:3,198,477...3,199,584 		JBrowse link
G Med24 mediator complex subunit 24 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:3,140,340...3,161,930
Ensembl chrNW_004624795:3,140,216...3,162,054 		JBrowse link
G Mien1 migration and invasion enhancer 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:3,371,383...3,372,819
Ensembl chrNW_004624795:3,371,384...3,372,812 		JBrowse link
G Msl1 MSL complex subunit 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:3,070,233...3,083,746
Ensembl chrNW_004624795:3,068,887...3,083,751 		JBrowse link
G Nr1d1 nuclear receptor subfamily 1 group D member 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:3,102,424...3,109,497
Ensembl chrNW_004624795:3,102,439...3,109,497 		JBrowse link
G Ormdl3 ORMDL sphingolipid biosynthesis regulator 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:3,210,382...3,216,130
Ensembl chrNW_004624795:3,209,605...3,217,539 		JBrowse link
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:3,399,648...3,408,277
Ensembl chrNW_004624795:3,399,699...3,408,277 		JBrowse link
G Pnmt phenylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:3,408,559...3,410,669
Ensembl chrNW_004624795:3,408,627...3,410,304 		JBrowse link
G Psmd3 proteasome 26S subunit, non-ATPase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:3,167,435...3,178,840
Ensembl chrNW_004624795:3,162,897...3,179,446 		JBrowse link
G Rapgefl1 Rap guanine nucleotide exchange factor like 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:3,036,245...3,045,610
Ensembl chrNW_004624795:3,036,543...3,045,595 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25
ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1N | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25		 OMIM
ClinVar		 PMID:9536098 PMID:10655062 PMID:12507422 PMID:15582318 PMID:16352453 More... NCBI chrNW_004624795:3,411,744...3,414,229
Ensembl chrNW_004624795:3,410,951...3,413,052 		JBrowse link
G Thra thyroid hormone receptor alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:3,109,663...3,132,494
Ensembl chrNW_004624795:3,108,854...3,132,464 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 ClinVar PMID:16247757 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624750:9,009,085...9,036,713
Ensembl chrNW_004624750:9,009,085...9,036,747 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1N | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:3144325 PMID:3349559 PMID:9241277 PMID:10806205 PMID:11735257 More... NCBI chrNW_004624832:2,088,455...2,092,774
Ensembl chrNW_004624832:2,088,589...2,092,771 		JBrowse link
G Wipf2 WAS/WASL interacting protein family member 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:2,995,326...3,031,675
Ensembl chrNW_004624795:2,998,701...3,014,233 		JBrowse link
G Zpbp2 zona pellucida binding protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004624795:3,242,607...3,252,997 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: Arrhythmogenic right ventricular dysplasia, familial, 15 | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 26 | ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 5 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 OMIM
ClinVar		 PMID:9536098 PMID:15929027 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chrNW_004624783:7,334,421...7,360,795
Ensembl chrNW_004624783:7,334,312...7,361,134 		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: ALPK3-related condition | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic 27 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21441111 PMID:24033266 PMID:25741868 More... NCBI chrNW_004624768:18,061,477...18,108,044
Ensembl chrNW_004624768:18,061,518...18,106,876 		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 | ClinVar Annotator: match by term: FHOD3-related condition OMIM
ClinVar		 PMID:24088304 PMID:25741868 PMID:28492532 PMID:30442288 PMID:30898215 More... NCBI chrNW_004624779:10,562,319...11,069,557
Ensembl chrNW_004624779:10,562,296...11,069,694 		JBrowse link
Hypertrophic Cardiomyopathy 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl24 kelch like family member 24 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies OMIM
ClinVar		 PMID:30715372 NCBI chrNW_004624730:72,803,070...72,843,627
Ensembl chrNW_004624730:72,807,780...72,844,190 		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: Hypertrophic cardiomyopathy 3 OMIM
ClinVar		 PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chrNW_004624781:9,414,500...9,442,357
Ensembl chrNW_004624781:9,414,500...9,442,544 		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: Hypertrophic cardiomyopathy 4 ClinVar PMID:25741868 NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
G Dnaaf3 dynein axonemal assembly factor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chrNW_004624832:2,081,239...2,087,833
Ensembl chrNW_004624832:2,082,494...2,087,537 		JBrowse link
G Madd MAP kinase activating death domain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chrNW_004624767:1,421,603...1,459,738
Ensembl chrNW_004624767:1,421,603...1,459,507 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 4, susceptibility to | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: MYBPC3-related condition OMIM
ClinVar		 PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:747929 More... NCBI chrNW_004624767:1,406,563...1,420,778
Ensembl chrNW_004624767:1,406,587...1,420,436 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chrNW_004624740:13,428,375...13,439,915
Ensembl chrNW_004624740:13,429,476...13,439,807 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chrNW_004624775:12,954,653...13,650,449
Ensembl chrNW_004624775:12,956,042...13,419,381 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar PMID:12507422 PMID:15582318 PMID:28492532 NCBI chrNW_004624795:3,411,744...3,414,229
Ensembl chrNW_004624795:3,410,951...3,413,052 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chrNW_004624832:2,088,455...2,092,774
Ensembl chrNW_004624832:2,088,589...2,092,771 		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 term: Hypertrophic cardiomyopathy 6 ClinVar
OMIM		 PMID:7657794 PMID:10355918 PMID:10820940 PMID:11371514 PMID:11407343 More... NCBI chrNW_004624800:4,969,010...5,207,941
Ensembl chrNW_004624800:4,968,866...5,207,501 		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: Hypertrophic cardiomyopathy 7 ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624832:2,081,239...2,087,833
Ensembl chrNW_004624832:2,082,494...2,087,537 		JBrowse link
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 ClinVar PMID:30442288 NCBI chrNW_004624779:10,562,319...11,069,557
Ensembl chrNW_004624779:10,562,296...11,069,694 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 7 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 OMIM
ClinVar		 PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10731705 More... NCBI chrNW_004624832:2,088,455...2,092,774
Ensembl chrNW_004624832:2,088,589...2,092,771 		JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624832:2,093,852...2,100,647
Ensembl chrNW_004624832:2,094,903...2,100,560 		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 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 8 ClinVar
OMIM		 PMID:6211078 PMID:08673105 PMID:9536098 PMID:9927691 PMID:10948063 More... NCBI chrNW_004624730:74,405,054...74,408,567
Ensembl chrNW_004624730:74,404,915...74,408,752 		JBrowse link
hypertrophic cardiomyopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9 ClinVar PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chrNW_004624754:15,563,878...15,573,538
Ensembl chrNW_004624754:15,563,872...15,573,536 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9 OMIM
ClinVar		 PMID:9536098 PMID:10462489 PMID:11310621 PMID:16084088 PMID:17344846 More... NCBI chrNW_004624844:484,593...760,155 JBrowse link
Immunodeficiency 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fnip1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 93 and hypertrophic cardiomyopathy ClinVar
OMIM		 PMID:25741868 PMID:32181500 PMID:32905580 NCBI chrNW_004624733:40,263,760...40,396,183
Ensembl chrNW_004624733:40,263,898...40,393,690 		JBrowse link
G Rapgef6 Rap guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Immunodeficiency 93 and hypertrophic cardiomyopathy ClinVar PMID:32905580 NCBI chrNW_004624733:40,403,340...40,609,104
Ensembl chrNW_004624733:40,402,318...40,609,234 		JBrowse link
mitochondrial complex IV deficiency nuclear type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101702099 cytochrome c oxidase assembly factor 6 homolog ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 OMIM
ClinVar		 PMID:22277967 PMID:24549041 PMID:25339201 PMID:25741868 PMID:25959673 More... NCBI chrNW_004624775:15,942,940...15,945,964 JBrowse link
mitochondrial complex IV deficiency nuclear type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101702099 cytochrome c oxidase assembly factor 6 homolog ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624775:15,942,940...15,945,964 JBrowse link
G LOC101715399 cytochrome c oxidase assembly protein COX15 homolog ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624737:11,435,006...11,452,934
Ensembl chrNW_004624737:11,435,074...11,453,727 		JBrowse link
G LOC101718187 cytochrome c oxidase assembly factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624749:3,634,464...3,646,378
Ensembl chrNW_004624749:3,634,826...3,646,307 		JBrowse link
G LOC106007592 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 OMIM
ClinVar		 PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:12529715 More... NCBI chrNW_004624752:256,243...257,829
Ensembl chrNW_004624752:256,376...257,825 		JBrowse link
G Ncaph2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 ClinVar PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 More... NCBI chrNW_004624752:257,885...268,971
Ensembl chrNW_004624752:258,039...268,737 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624752:251,670...256,243
Ensembl chrNW_004624752:252,937...256,244 		JBrowse link
mitochondrial complex IV deficiency nuclear type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101715399 cytochrome c oxidase assembly protein COX15 homolog ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 OMIM
ClinVar		 PMID:2175025 PMID:9536098 PMID:12474143 PMID:15235026 PMID:15863660 More... NCBI chrNW_004624737:11,435,006...11,452,934
Ensembl chrNW_004624737:11,435,074...11,453,727 		JBrowse link
mitochondrial complex IV deficiency nuclear type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101718187 cytochrome c oxidase assembly factor 5 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 OMIM
ClinVar		 PMID:21457908 NCBI chrNW_004624749:3,634,464...3,646,378
Ensembl chrNW_004624749:3,634,826...3,646,307 		JBrowse link
nuclear type mitochondrial complex I deficiency 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad9 acyl-CoA dehydrogenase family member 9 ISO ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency OMIM
ClinVar		 PMID:7599230 PMID:9536098 PMID:16199547 PMID:17564966 PMID:17576681 More... NCBI chrNW_004624781:7,683,025...7,717,427 JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:19777577 PMID:22241855 PMID:22425360 PMID:23012439 PMID:25741868 More... NCBI chrNW_004624755:16,252,488...16,361,794
Ensembl chrNW_004624755:16,252,582...16,355,053 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:16909394 PMID:17345604 PMID:20690115 PMID:21866095 PMID:25741868 More... NCBI chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097 		JBrowse link
G Cfap92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20929961 PMID:21057504 More... NCBI chrNW_004624781:7,632,720...7,685,390 JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:20301500 PMID:22425360 PMID:22693042 PMID:24178751 PMID:25407461 More... NCBI chrNW_004624759:17,763,200...17,879,603
Ensembl chrNW_004624759:17,763,585...17,855,954 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:25741868 PMID:26072516 NCBI chrNW_004624743:33,424,705...33,435,767
Ensembl chrNW_004624743:33,423,342...33,435,721 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:8655135 PMID:9562578 PMID:11499718 PMID:12881443 PMID:12951062 More... NCBI chrNW_004624767:1,406,563...1,420,778
Ensembl chrNW_004624767:1,406,587...1,420,436 		JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:23555315 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26467025 More... NCBI chrNW_004624744:2,013,936...2,061,726
Ensembl chrNW_004624744:2,013,922...2,061,708 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:15542397 PMID:19105186 PMID:19877282 PMID:24016303 PMID:25741868 More... NCBI chrNW_004624754:16,510,980...16,534,695
Ensembl chrNW_004624754:16,510,795...16,527,859 		JBrowse link
Sensorineural Deafness with Hypertrophic Cardiomyopathy 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: Sensorineural deafness with hypertrophic cardiomyopathy ClinVar PMID:15060111 PMID:18212818 PMID:18348273 PMID:24033266 PMID:28492532 NCBI chrNW_004624819:2,835,783...2,999,819
Ensembl chrNW_004624819:2,896,374...2,999,819 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      cardiovascular system disease 4070
        heart disease 2831
          cardiomyopathy 1144
            intrinsic cardiomyopathy 838
              hypertrophic cardiomyopathy 267
                COX deficiency, infantile mitochondrial myopathy + 6
                Immunodeficiency 93 2
                Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules 0
                Sensorineural Deafness with Hypertrophic Cardiomyopathy 1
                familial hypertrophic cardiomyopathy + 124
                infantile hypertrophic cardiomyopathy 0
                nuclear type mitochondrial complex I deficiency 20 9
Path 2
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      cardiovascular system disease 4070
        vascular disease 2858
          artery disease 1901
            aortic disease 726
              aortic valve disease 352
                aortic valve stenosis 330
                  subvalvular aortic stenosis 269
                    hypertrophic cardiomyopathy 267
                      COX deficiency, infantile mitochondrial myopathy + 6
                      Immunodeficiency 93 2
                      Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules 0
                      Sensorineural Deafness with Hypertrophic Cardiomyopathy 1
                      familial hypertrophic cardiomyopathy + 124
                      infantile hypertrophic cardiomyopathy 0
                      nuclear type mitochondrial complex I deficiency 20 9
paths to the root