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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:intrinsic cardiomyopathy
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Accession:DOID:0060036 term browser browse the term
Definition:A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. (DO)


show annotations for term's descendants           Sort by:
intrinsic cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Intrinsic cardiomyopathy ClinVar PMID:20474083 PMID:25741868 PMID:31333075 PMID:32973354 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Intrinsic cardiomyopathy ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More... NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516 		JBrowse link
G Daam1 dishevelled associated activator of morphogenesis 1 ISS MouseDO NCBI chr 6:90,389,544...90,550,114
Ensembl chr 6:90,389,688...90,550,114 		JBrowse link
G Dsg2 desmoglein 2 ISS MouseDO NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Myh7 myosin heavy chain 7 ISO protein:increased expression:heart (human) RGD PMID:27249171 RGD:155646134 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Nppa natriuretic peptide A ISO protein:increased expression:heart (human) RGD PMID:27249171 RGD:155646134 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351 		JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Intrinsic cardiomyopathy ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More... NCBI chr20:32,629,537...32,639,559 JBrowse link
G Traf6 TNF receptor associated factor 6 ISO protein:increased expression:heart (human) RGD PMID:27249171 RGD:155646134 NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507 		JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350 		JBrowse link
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 More... NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264 		JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 2:116,884,167...116,937,590
Ensembl chr 2:116,884,248...116,937,590 		JBrowse link
Andersen-Tawil syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Andersen Syndrome | ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8078584 PMID:11371347 PMID:11841151 PMID:11861044 PMID:12045162 More... NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445 		JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features ClinVar PMID:20560207 PMID:21311022 PMID:22203740 PMID:24574546 PMID:25417227 More... NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518 		JBrowse link
Apical Hypertrophic Cardiomyopathy and Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy ClinVar PMID:21686774 NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy ClinVar PMID:21686774 NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
arrhythmogenic right ventricular 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: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:20890277 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Actn2 actinin alpha 2 ISO DNA:polymorphism: :
ClinVar Annotator: match by term: Cardiomyopathy, ARVC		 ClinVar
RGD		 PMID:25224718 PMID:25741868 PMID:28492532 PMID:31956495 PMID:11078270 RGD:13506947 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:28492532 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia ClinVar PMID:21898660 PMID:23861362 PMID:25741868 PMID:28492532 PMID:29382405 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
G C9h2orf49 similar to human chromosome 2 open reading frame 49 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 9:45,371,396...45,382,123
Ensembl chr 9:45,371,430...45,382,120 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362 PMID:25447171 PMID:25661095 PMID:25741868 PMID:28492532 NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106 		JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:17655857 PMID:23861362 PMID:28492532 NCBI chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015 		JBrowse link
G Cdh2 cadherin 2 ISO DNA:missense mutations:cds:c.686A>C(p.Q229P), c.1219G>A (p.D407N)(human)
DNA:mutation:cds:c.1219G>A(p.D407N)(human)		 RGD PMID:28280076 PMID:28326674 RGD:13524622, RGD:13524623 NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167 		JBrowse link
G Des desmin ISO DNA:mutation:cds:c.1203G>C (p.E401D)(human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC
protein:decreased expression:cardiac ventricle (mouse)		 ClinVar
RGD		 PMID:10717012 PMID:10905661 PMID:14991347 PMID:15050448 PMID:21262226 More... RGD:13525009, RGD:265253172 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dsc2 desmocollin 2 susceptibility ISO protein:decreased expression:myocardium of ventricle (mouse)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia
protein:decreased expression:cardiac ventricle (mouse)
protein:decreased expression:heart right ventricle (human)
DNA:SNP:exon 11: c.1660C>T, p.Gln554X (human)		 ClinVar
RGD		 PMID:7971964 PMID:17033975 PMID:17186466 PMID:17963498 PMID:18382419 More... RGD:243065269, RGD:265253172, RGD:243065273, RGD:243065272 NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsg2 desmoglein 2 susceptibility
severity
ameliorates		 ISO
ISS		 ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia
DNA:mutation:cds: p.Phe531Cys(human)
protein:decreased expression:septum, heart left ventricle, heart right ventricle (human)		 ClinVar
MouseDO
RGD		 PMID:2040044 PMID:12586364 PMID:16025435 PMID:16199547 PMID:16505173 More... RGD:401851081, RGD:401851076, RGD:401851071, RGD:401851070, RGD:11087399, RGD:243065273 NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Right ventricular cardiomyopathy ClinVar
RGD		 PMID:491020 PMID:9536098 PMID:10395892 PMID:10594734 PMID:11063735 More... RGD:1580890 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 9:45,388,979...45,462,421
Ensembl chr 9:45,388,981...45,431,192 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:32112656 PMID:34587765 PMID:37164047 NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO protein:altered expression:ventricle
protein:decreased expression:cardiac ventricle (mouse)
protein:decreased expression:buccal mucosa		 RGD PMID:23178689 PMID:27412010 PMID:26850880 RGD:11352402, RGD:265253172, RGD:13592599 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639 		JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257 		JBrowse link
G Il6r interleukin 6 receptor ISO protein:increased expression:serum RGD PMID:21859801 RGD:10402826 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Jup junction plakoglobin ISO protein:altered expression:ventricle
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC		 ClinVar
RGD		 PMID:24033266 PMID:24884844 PMID:25741868 PMID:28098346 PMID:28492532 More... RGD:11352402 NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:9328483 PMID:9354783 PMID:9354802 PMID:9445165 PMID:10400998 More... NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:15176425 PMID:16244680 PMID:22402334 PMID:22581653 PMID:25741868 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30847666 PMID:31333075 More... NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:20474083 PMID:23861362 PMID:24033266 PMID:25179549 PMID:25351510 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Lmna lamin A/C ISO DNA:duplication:cds:c.418_438dup (human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC		 ClinVar
RGD		 PMID:22224630 PMID:22266370 PMID:22464770 PMID:23183350 PMID:23853504 More... RGD:11056513 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Mir130a microRNA 130a ISO RGD PMID:27834139 RGD:243065269 NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629 		JBrowse link
G Mir320a microRNA 320a ISO miRNA:decreased expression:blood plasma (human) RGD PMID:28684747 RGD:155882549 NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:15519027 PMID:19574547 PMID:20474083 PMID:23690394 PMID:24033266 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:28991257 PMID:29132927 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia ClinVar PMID:7731997 PMID:7796500 PMID:8483915 PMID:8541871 PMID:8951566 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:28611029 PMID:35629155 NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:25741868 PMID:28492532 PMID:29016939 PMID:31983221 NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISS MouseDO NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia		 ClinVar
RGD		 PMID:2412583 PMID:9536098 PMID:15489853 PMID:16101641 PMID:16199547 More... RGD:1580872, RGD:265253172, RGD:1580873 NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like ISS MouseDO NCBI chr 1:79,010,997...79,030,714
Ensembl chr 1:79,011,745...79,030,712 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:23396983 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26498160 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060 		JBrowse link
G Ryr2 ryanodine receptor 2 susceptibility ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Right ventricular cardiomyopathy ClinVar
RGD		 PMID:11159936 PMID:12093772 PMID:12459180 PMID:16769042 PMID:18326664 More... RGD:1599243 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO protein:altered expression:ventricle
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia		 ClinVar
RGD		 PMID:10973849 PMID:11222472 PMID:12354768 PMID:12820704 PMID:14523039 More... RGD:11352402 NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:79,904,698...79,922,808
Ensembl chr10:79,908,738...79,922,813 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:17143282 PMID:17143285 PMID:17586837 PMID:19953625 PMID:20981092 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25645515 PMID:25741868 PMID:32576985 NCBI chr10:57,795,845...57,800,363
Ensembl chr10:57,795,382...57,800,363 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia ClinVar PMID:18313022 PMID:18414213 PMID:19467449 PMID:20010364 PMID:21214875 More... NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 PMID:25741868 More... NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:21887725 PMID:25741868 PMID:26820365 PMID:28492532 PMID:30391667 More... NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Right ventricular cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:23396983 PMID:23861362 PMID:24033266 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010 		JBrowse link
arrhythmogenic right ventricular dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:19863551 PMID:23299917 PMID:25163546 PMID:25637381 PMID:25741868 More... NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19569224 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:21723241 PMID:24070718 PMID:25741868 PMID:26138720 PMID:28492532 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:15519027 PMID:18533079 PMID:20414521 PMID:20624503 PMID:21415409 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:19863551 PMID:24704780 PMID:25741868 PMID:28492532 NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25637381 PMID:25741868 PMID:28404607 PMID:28492532 PMID:30847666 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12529708 PMID:15639475 PMID:16199547 PMID:23824657 PMID:23861362 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
arrhythmogenic right ventricular dysplasia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg2 desmoglein 2 ISO
ISS		 ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10
OMIM:610193
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:271711 PMID:2040044 PMID:2569966 PMID:9536098 PMID:12586364 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 ClinVar PMID:25741868 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 ClinVar PMID:28492532 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
arrhythmogenic right ventricular dysplasia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:205460 PMID:1245073 PMID:7971964 PMID:9536098 PMID:16199547 More... NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsc3 desmocollin 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:11,379,759...11,413,797
Ensembl chr18:11,377,347...11,413,797 		JBrowse link
arrhythmogenic right ventricular dysplasia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jup junction plakoglobin ISO
ISS		 ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12
OMIM:611528
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:17576681 More... NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
arrhythmogenic right ventricular dysplasia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 13 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 13 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 13
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21254927 PMID:22421363 More... NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978 		JBrowse link
G Lrrtm3 leucine rich repeat transmembrane neuronal 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 13 ClinVar PMID:28492532 NCBI chr20:24,515,627...24,689,669
Ensembl chr20:24,515,627...24,689,669 		JBrowse link
arrhythmogenic right ventricular dysplasia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 14 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 14 OMIM
ClinVar		 PMID:25741868 PMID:28280076 PMID:28326674 PMID:28492532 NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167 		JBrowse link
arrhythmogenic right ventricular dysplasia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpsa ribosomal protein SA ISS OMIM:604400 MouseDO NCBI chr 8:119,851,225...119,855,103
Ensembl chr 8:119,851,225...119,855,247 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230648 PMID:18313022 More... NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
arrhythmogenic right ventricular dysplasia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp6 bone morphogenetic protein 6 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 ClinVar PMID:28492532 NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Dsp desmoplakin ISO
ISS		 ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8
OMIM:607450
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Snrnp48 small nuclear ribonucleoprotein U11/U12 subunit 48 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 ClinVar PMID:28492532 NCBI chr17:26,596,266...26,616,058
Ensembl chr17:26,596,275...26,616,040 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 ClinVar NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243 		JBrowse link
arrhythmogenic right ventricular dysplasia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Des desmin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:27066507 PMID:28492532 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:2569966 PMID:16199547 PMID:16773573 PMID:17105751 PMID:19151369 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:20716751 PMID:24503780 PMID:25227139 PMID:25741868 PMID:25820315 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Fgd4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:27066507 PMID:28492532 NCBI chr11:84,399,989...84,551,013
Ensembl chr11:84,399,816...84,546,972 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:25741868 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:25741868 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2163603 PMID:2412583 PMID:9536098 PMID:11790773 PMID:15489853 More... NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:14519435 PMID:24033266 PMID:24503780 PMID:25741868 PMID:27532257 More... NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:25741868 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26567375 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:27066507 PMID:28492532 NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125 		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
ISS		 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:606346
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More... NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292 		JBrowse link
Cardiac Conduction Disease with or without Dilated Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO DNA:missense mutations:cds:multiple (human) RGD PMID:10580070 RGD:11066902 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Lrrc53 leucine rich repeat containing 53 ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition ClinVar PMID:25741868 PMID:28492532 PMID:30010057 PMID:34203974 NCBI chr 2:243,781,445...243,807,037
Ensembl chr 2:243,769,297...243,803,164 		JBrowse link
G Tnni3k TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:24925317 PMID:25741868 PMID:25791106 PMID:28492532 More... NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268 		JBrowse link
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp6 bone morphogenetic protein 6 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Dsp desmoplakin ISO
ISS		 ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
OMIM:605676
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Snrnp48 small nuclear ribonucleoprotein U11/U12 subunit 48 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr17:26,596,266...26,616,058
Ensembl chr17:26,596,275...26,616,040 		JBrowse link
catecholaminergic polymorphic ventricular tachycardia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:16253912 PMID:22581653 PMID:25351510 PMID:25741868 PMID:26771585 More... NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837 		JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:23040497 PMID:23388215 PMID:24563457 PMID:24816216 PMID:25557436 More... NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227 		JBrowse link
G Casq2 calsequestrin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC		 CTD
ClinVar		 PMID:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 More... NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267 		JBrowse link
G Dmpk DM1 protein kinase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr 1:78,730,255...78,740,585
Ensembl chr 1:78,730,275...78,740,593 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 PMID:33552729 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:15843404 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Mab21l3 mab-21 like 3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 2:189,248,895...189,271,652
Ensembl chr 2:189,248,895...189,271,652 		JBrowse link
G Mt1m metallothionein 1M ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr20:3,159,037...3,159,409
Ensembl chr 5:119,728,811...119,730,073 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28600387 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Nhlh2 nescient helix loop helix 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 2:189,444,287...189,449,625
Ensembl chr 2:189,442,711...189,449,625 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO
ISS		 ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
OMIM:604772
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC		 OMIM
ClinVar
MouseDO
CTD		 PMID:285698 PMID:1817325 PMID:1992601 PMID:8589694 PMID:9536098 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:15840476 PMID:19841300 PMID:20129283 PMID:22581653 PMID:23805106 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Slc22a15 solute carrier family 22, member 15 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 2:189,298,836...189,359,902
Ensembl chr 2:189,298,832...189,358,792 		JBrowse link
G Tnni3k TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 ClinVar PMID:25741868 NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
G Trdn triadin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY		 CTD
ClinVar		 PMID:9536098 PMID:10497235 PMID:16199547 PMID:17576681 PMID:19403623 More... NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619 		JBrowse link
COX deficiency, infantile mitochondrial myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 More... NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
dilated 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 susceptibility ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar
RGD		 PMID:12166651 PMID:20474083 PMID:24033266 PMID:25741868 PMID:27532257 More... RGD:1300328 NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Abcc9_v1 ATP binding cassette subfamily C member 9, variant 1 susceptibility ISO RGD PMID:15034580 RGD:1300328
G Abra actin-binding Rho activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chr 7:72,970,187...72,974,255
Ensembl chr 7:72,970,186...72,974,255 		JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:21932095 PMID:25087612 PMID:25741868 PMID:26385305 PMID:27209629 More... NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Ace angiotensin I converting enzyme no_association ISO DNA:insertion/deletion:intron RGD PMID:9270088 RGD:1566491 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:30354303 PMID:32746448 NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 susceptibility ISO DNA:point mutations: :p.Arg312His, p.Glu361Gly (human)
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 More... RGD:1559158 NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:14567970 PMID:17097056 PMID:20022194 PMID:23299917 PMID:23861362 More... NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Adrb1 adrenoceptor beta 1 IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9554809 PMID:18287209 RGD:5129132 NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259 		JBrowse link
G Adrb2 adrenoceptor beta 2 IDA
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11986409 PMID:18287209 RGD:5129132 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Aff4 ALF transcription elongation factor 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr10:37,498,825...37,579,751
Ensembl chr10:37,498,825...37,579,751 		JBrowse link
G Agt angiotensinogen no_association
treatment		 ISO
IEP		 DNA:polymorphisms: :p.T174M, p.M235T (human) RGD PMID:9270088 PMID:22120037 RGD:1566491, RGD:8549486 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a treatment IMP
IEP		 RGD PMID:20886512 PMID:22120037 RGD:5129198, RGD:8549486 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO
IEP		 mRNA, protein:increased expression:heart left ventricle RGD PMID:9815151 PMID:22120037 RGD:6903900, RGD:8549486 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:31418098 NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447358 NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23861362 PMID:25351510 PMID:25741868 PMID:28341588 PMID:28492532 More... NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO DNA:missense mutations:multiple (human)
ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18273862 PMID:19525294 More... RGD:5133277 NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919 		JBrowse link
G Ankrd37 ankyrin repeat domain 37 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,268,933...46,271,971
Ensembl chr16:46,268,443...46,271,963 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO RGD PMID:16714771 RGD:1601240 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805 		JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24358288 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Axin2 axin 2 ISO
IEP		 CTD Direct Evidence: marker/mechanism
protein:decreased expression:lung		 CTD
RGD		 PMID:29394407 PMID:33092439 RGD:151356921 NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:2159883 PMID:21353195 PMID:21459883 PMID:21898660 PMID:22337857 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:23980359 PMID:26004897 RGD:10054117, RGD:13782348 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP RGD PMID:26004897 RGD:13782348 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bcl2l1 Bcl2-like 1 IEP RGD PMID:26004897 RGD:13782348 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G C9h2orf49 similar to human chromosome 2 open reading frame 49 ISO ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25358972 More... NCBI chr 9:45,371,396...45,382,123
Ensembl chr 9:45,371,430...45,382,120 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23677916 PMID:24033266 PMID:25184293 PMID:25741868 PMID:28492532 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106 		JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 susceptibility ISO DNA:SNPs:introns: RGD PMID:29495422 RGD:13515053 NCBI chr 3:36,906,771...37,169,165
Ensembl chr 3:36,910,427...37,168,944 		JBrowse link
G Cacng8 calcium voltage-gated channel auxiliary subunit gamma 8 ISO mRNA,protein:decreased expression:left ventricule: RGD PMID:26710323 RGD:11353143 NCBI chr 1:65,755,334...65,775,567
Ensembl chr 1:65,755,334...65,779,089 		JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29988065 NCBI chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015 		JBrowse link
G Cap2 cyclase associated actin cytoskeleton regulatory protein 2 ISS MouseDO NCBI chr17:18,054,234...18,203,453
Ensembl chr17:18,054,431...18,203,373 		JBrowse link
G Casp3 caspase 3 IEP RGD PMID:26004897 RGD:13782348 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp8 caspase 8 IEP RGD PMID:26004897 RGD:13782348 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542 		JBrowse link
G Casp9 caspase 9 IEP RGD PMID:26004897 RGD:13782348 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626 		JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:20530761 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267 		JBrowse link
G Casz1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 5:159,243,965...159,393,935
Ensembl chr 5:159,243,995...159,393,400 		JBrowse link
G Cat catalase ISO RGD PMID:10652196 RGD:1581150 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccdc110 coiled-coil domain containing 110 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,315,745...46,337,050
Ensembl chr16:46,315,745...46,337,021 		JBrowse link
G Cd27 CD27 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592 		JBrowse link
G Cd36 CD36 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:10981864 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:9495297 RGD:13702889 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd70 Cd70 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 9:2,006,563...2,009,715
Ensembl chr 9:2,006,563...2,009,715 		JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167 		JBrowse link
G Cdk8 cyclin-dependent kinase 8 susceptibility ISO DNA:SNPs, haplotype:intron: (rs17083838, rs7992670) (human) RGD PMID:34815954 RGD:155260314 NCBI chr12:8,737,198...8,805,026
Ensembl chr12:8,737,262...8,804,177 		JBrowse link
G Cenpf centromere protein F ISS MouseDO NCBI chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669 		JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:12610310 PMID:12639993 PMID:16235537 PMID:16897780 PMID:17655857 More... NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516 		JBrowse link
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625 		JBrowse link
G Cfap97 cilia and flagella associated protein 97 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,086,104...46,135,194
Ensembl chr16:46,086,111...46,125,933 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:23408450 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Cox7a1 cytochrome c oxidase subunit 7A1 ISS MouseDO NCBI chr 1:85,422,162...85,447,530
Ensembl chr 1:85,441,871...85,445,151 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO RGD PMID:9616213 RGD:734815 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:19597569 PMID:26402864 PMID:28492532 NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
G Cs citrate synthase ISO RGD PMID:8252591 PMID:10354207 RGD:243048472, RGD:243048483 NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17334414 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Csrnp1 cysteine and serine rich nuclear protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chr 8:119,704,712...119,717,767
Ensembl chr 8:119,704,713...119,718,183 		JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO DNA:missense mutation:cds:p.W4R (human)
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar
RGD		 PMID:9039266 PMID:12507422 PMID:14567970 PMID:15781201 PMID:16352453 More... RGD:734841, RGD:734837 NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653 		JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar
RGD		 PMID:11058912 PMID:24033266 PMID:25741868 PMID:26084686 PMID:27149842 More... RGD:1626410 NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335 		JBrowse link
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:29394407 PMID:20376467 RGD:13524857 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Ctsl cathepsin L ISS MouseDO NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP mRNA:increased expression:left ventricle myocardium RGD PMID:20868517 RGD:5134996 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 IDA RGD PMID:15322218 RGD:1598502 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596 		JBrowse link
G Dag1 dystroglycan 1 ISS MouseDO NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
DNA:mutation:cds:c.679C>T(p.R227C)(human)
protein:altered expression:cardiomyocyte:		 ClinVar
RGD		 PMID:9382102 PMID:9536098 PMID:10717012 PMID:11073539 PMID:12620971 More... RGD:13525010, RGD:13592594, RGD:13542087 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dgkd diacylglycerol kinase, delta ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 9:88,516,686...88,607,349
Ensembl chr 9:88,516,715...88,607,345 		JBrowse link
G Dicer1 dicer 1 ribonuclease III ISS MouseDO NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965 		JBrowse link
G Dmd dystrophin severity ISO
IMP		 ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:myocardium		 ClinVar
CTD
RGD		 PMID:11496434 PMID:12359139 PMID:16770791 PMID:19409785 PMID:19937601 More... RGD:1580858, RGD:13702900, RGD:12880034, RGD:6771365 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang IMP RGD PMID:25310701 RGD:12880034
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344 		JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Dnm1l dynamin 1-like ISS MouseDO NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482 		JBrowse link
G Dolk dolichol kinase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 3:13,557,826...13,559,864
Ensembl chr 3:13,557,817...13,559,917 		JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532 		JBrowse link
G Dsc2 desmocollin 2 ISO
IEP		 ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
protein:increased expression:heart (rat)		 ClinVar
RGD		 PMID:205460 PMID:1245073 PMID:20400443 PMID:23514727 PMID:23911551 More... RGD:264347602 NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsg2 desmoglein 2 ISO
IEP		 ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
DNA:polymorphism:cds:c.209G > A (p.V55M)(human)
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
protein:increased expression:heart (rat)
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar
RGD		 PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19569224 More... RGD:401851067, RGD:11064672, RGD:264347602 NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar
RGD		 PMID:3198322 PMID:9536098 PMID:10594734 PMID:11063735 PMID:16061754 More... RGD:1580891 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:14,687,193...14,944,232
Ensembl chr18:14,587,852...14,944,261 		JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A severity IMP rat cDNA in mouse model RGD PMID:27056896 RGD:401959209 NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420 		JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:11468312 PMID:17070050 PMID:20623375 PMID:22194990 PMID:22910291 More... NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709 		JBrowse link
G Ece1 endothelin converting enzyme 1 ISO RGD PMID:11145756 RGD:1580911 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
G Edn1 endothelin 1 severity ISO protein:increased expression:aorta, plasma (human) RGD PMID:10026353 RGD:8661756 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Egfr epidermal growth factor receptor IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18599591 PMID:22646904 RGD:7204501 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Egln1 egl-9 family hypoxia-inducible factor 1 ISO RGD PMID:18096761 RGD:11251770 NCBI chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777 		JBrowse link
G Elac2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:27769300 PMID:28492532 PMID:31045291 NCBI chr10:49,632,308...49,655,614
Ensembl chr10:49,632,378...49,655,614 		JBrowse link
G Emd emerin ISO DNA:deletion:cds:c.26_39delATACCGAGCTGACC(human)
ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar
RGD		 PMID:28492532 PMID:24997722 RGD:13592595 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO
ISS		 MouseDO
RGD		 PMID:12072561 RGD:734939 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Esrrb estrogen-related receptor beta ISS MouseDO NCBI chr 6:106,007,701...106,163,136
Ensembl chr 6:106,008,095...106,160,791 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO DNA:deletion:introns, exon (human)
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar
RGD		 PMID:10769282 PMID:15735644 PMID:17567890 PMID:24033266 PMID:15735644 RGD:1598455 NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976 		JBrowse link
G Fads2 fatty acid desaturase 2 treatment ISO RGD PMID:24284026 RGD:401901245 NCBI chr 1:206,707,384...206,747,333
Ensembl chr 1:206,708,783...206,748,789 		JBrowse link
G Fas Fas cell surface death receptor IEP
ISO		 protein:increased expression:cardiocyte
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17943461 PMID:16761189 RGD:1600334 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:17943461 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:9536098 PMID:16199547 PMID:17416352 PMID:17576681 PMID:24033266 More... NCBI chr 9:45,388,979...45,462,421
Ensembl chr 9:45,388,981...45,431,192 		JBrowse link
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088304 PMID:25741868 NCBI chr18:15,993,079...16,425,796
Ensembl chr18:15,993,324...16,425,796 		JBrowse link
G Fkrp fukutin related protein ISO DNA:missense mutation:exon:p.L276I (826C>A) (human)
ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar
RGD		 PMID:11741828 PMID:16344347 PMID:17994539 PMID:18832576 PMID:22451200 More... RGD:11667064 NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:17597323 PMID:25741868 PMID:26633542 PMID:28492532 NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:10862770 PMID:20661277 PMID:25741868 PMID:32870709 PMID:37561591 NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Cardiomyopathy, fatal infantile | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:9536098 PMID:15929027 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:18076106 PMID:20874241 PMID:24033266 PMID:25741868 PMID:27374936 More... NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Gata5 GATA binding protein 5 ISO DNA:mutation:cds;c.719G>A(p.Gly240Asp)(human) RGD PMID:25543888 RGD:155260333 NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751 		JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO mRNA:decreased expression:endocardium RGD PMID:15698596 RGD:329970287 NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698 		JBrowse link
G Gdf1 growth differentiation factor 1 ISO mRNA,protein:increased expression:heart (human) RGD PMID:24275554 RGD:11252017 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO
IEP		 protein:decreased expression:heart (rat) RGD PMID:12619876 PMID:26708424 RGD:1582667, RGD:264347602 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy ClinVar PMID:23993195 PMID:25533962 PMID:25741868 PMID:25966631 PMID:26060304 More... NCBI chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493 		JBrowse link
G Gnaq G protein subunit alpha q ISO
ISS		 MouseDO
RGD		 PMID:9811897 RGD:1598475 NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466 		JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723 		JBrowse link
G Gpx1 glutathione peroxidase 1 susceptibility ISO DNA:polymorphism: :p.P198L (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18940188 PMID:18940188 RGD:2306616 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28701297 NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646 		JBrowse link
G H19 H19 imprinted maternally expressed transcript ameliorates IMP RGD PMID:28430627 RGD:156430329 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28341588 PMID:28492532 NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639 		JBrowse link
G Hdac6 histone deacetylase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764897 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
G Hfe homeostatic iron regulator susceptibility ISO RGD PMID:11040018 RGD:1582687 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive ClinVar PMID:20308327 PMID:24033266 PMID:25741868 PMID:27545675 PMID:29938792 More... NCBI chr  X:97,780,890...97,786,846
Ensembl chr  X:97,780,785...97,787,041 		JBrowse link
G Hopx HOP homeobox ISO mRNA:decreased expression:left ventricle RGD PMID:12920479 RGD:401793745 NCBI chr14:31,055,912...31,082,909
Ensembl chr14:31,075,148...31,082,909 		JBrowse link
G Hp haptoglobin ISO protein:increased expression RGD PMID:16360363 RGD:1626345 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:11934830 RGD:1598419 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il10 interleukin 10 IEP mRNA:decreased expression:heart left ventricle RGD PMID:19242323 RGD:2311057 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO protein:increased expression:myocardium RGD PMID:18362439 RGD:2298568 NCBI chr  X:111,002,590...111,074,053
Ensembl chr  X:111,002,592...111,072,381 		JBrowse link
G Ilk integrin-linked kinase ISO
ISS		 ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar
MouseDO		 NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO protein:decreased expression:heart RGD PMID:23589561 RGD:11530060 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Irx5 iroquois homeobox 5 ISO mRNA:increased expression:heart left ventricle (human) RGD PMID:16753336 RGD:329950575 NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318 		JBrowse link
G Isl1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.631A>T(human) RGD PMID:30536204 RGD:243049244 NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584 		JBrowse link
G Itgb1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11884376 NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195 		JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO RGD PMID:12496958 RGD:1582491 NCBI chr  X:66,572,537...66,577,174
Ensembl chr  X:66,572,537...66,577,174 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 no_association ISO RGD PMID:8567977 RGD:1556475 NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:30384889 PMID:30615648 PMID:15541368 RGD:1580652 NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:20031617 PMID:20857253 PMID:21859740 PMID:23861362 PMID:24033266 More... NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:30461122 PMID:35027292 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:15176425 PMID:16244680 PMID:22402334 PMID:22581653 PMID:25741868 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO RGD PMID:15864294 RGD:1581757 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28416588 PMID:28492532 More... NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:21415759 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
G Lck LCK proto-oncogene, Src family tyrosine kinase ISO RGD PMID:17711737 RGD:2316557 NCBI chr 5:141,888,318...141,916,945
Ensembl chr 5:141,888,326...141,903,794 		JBrowse link
G Ldb3 LIM domain binding 3 no_association ISO DNA:missense mutation:exon:p.S196L (human)
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
DNA:missense mutation: :p.D626N (human)
DNA:missense mutation: :p.D117N (human)		 ClinVar
RGD		 PMID:9536098 PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 More... RGD:11098950, RGD:1580827, RGD:11527732 NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO RGD PMID:16738313 RGD:11252001 NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794 		JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphism: :p.Q223R (human) RGD PMID:19337797 RGD:2311129 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Lmna lamin A/C severity ISO associated with Muscular Dystrophy, Emery-Dreifuss;DNA:missense mutation:cds:p.H222P (mouse)
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutations:cds:multiple (human)
DNA:missense mutations, deletion:cds:multiple (human)
DNA:mutation		 ClinVar
CTD
RGD		 PMID:262236 PMID:1839274 PMID:2007407 PMID:2280636 PMID:2338570 More... RGD:2306094, RGD:11073137, RGD:1580515, RGD:2306092, RGD:2306091 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Lmod2 leiomodin 2 ISS MouseDO NCBI chr 4:53,067,428...53,075,124
Ensembl chr 4:53,067,428...53,075,120 		JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 PMID:32041611 PMID:33303402 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Lrp2bp Lrp2 binding protein ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,241,554...46,269,221
Ensembl chr16:46,243,430...46,269,642 		JBrowse link
G Lrrc10 leucine-rich repeat-containing 10 ISS
ISO		 ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 MouseDO
ClinVar		 PMID:25741868 PMID:28032242 PMID:28166811 PMID:28492532 NCBI chr 7:52,686,972...52,688,369
Ensembl chr 7:52,686,972...52,688,369 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 treatment IMP RGD PMID:31512380 RGD:156431214 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Map2k5 mitogen activated protein kinase kinase 5 ISO RGD PMID:11387209 RGD:1580866 NCBI chr 8:63,625,220...63,852,090
Ensembl chr 8:63,625,221...63,851,983 		JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO protein:increased phosphorylation:heart (human) RGD PMID:27249171 RGD:155646134 NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597 		JBrowse link
G Mas1 MAS1 proto-oncogene, G protein-coupled receptor treatment IEP RGD PMID:22120037 RGD:8549486 NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709 		JBrowse link
G Mdm4 MDM4 regulator of p53 ISS MouseDO NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226 		JBrowse link
G Med1 mediator complex subunit 1 ISO
ISS		 MouseDO
RGD		 PMID:27548259 RGD:13513972 NCBI chr10:83,145,538...83,189,260
Ensembl chr10:83,145,568...83,189,299 		JBrowse link
G Mef2a myocyte enhancer factor 2a ISO RGD PMID:16469744 RGD:1580546 NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948 		JBrowse link
G Mef2c myocyte enhancer factor 2C ISO RGD PMID:16469744 RGD:1580546 NCBI chr 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880 		JBrowse link
G Mfn1 mitofusin 1 ISO with Mfn2 knockout RGD PMID:22052916 RGD:11251967 NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640 		JBrowse link
G Mfn2 mitofusin 2 ISO with Mfn1 knockout RGD PMID:22052916 RGD:11251967 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mir675 microRNA 675 ameliorates IEP RGD PMID:28430627 RGD:156430329 NCBI chr 1:197,732,275...197,732,358
Ensembl chr 1:197,732,275...197,732,358 		JBrowse link
G Mmp1 matrix metallopeptidase 1 severity ISO mRNA:increased expression:myocardium (human) RGD PMID:17178334 PMID:12167381 RGD:4890382, RGD:1582541 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO RGD PMID:16037568 RGD:1582576 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO RGD PMID:16037568 RGD:1582576 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:16037568 RGD:1582576 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mrgprd MAS related GPR family member D ISS MouseDO NCBI chr 1:200,479,204...200,487,902
Ensembl chr 1:200,485,189...200,486,148 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
G Mtif3 mitochondrial translational initiation factor 3 ISS MouseDO NCBI chr12:8,126,193...8,140,706
Ensembl chr12:8,126,276...8,140,470 		JBrowse link
G Mtpn myotrophin ISO RGD PMID:8508536 RGD:1581048 NCBI chr 4:64,159,273...64,186,686
Ensembl chr 4:64,157,641...64,186,724 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:203962 PMID:925171 PMID:1572569 PMID:2832387 PMID:7493025 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myh6 myosin heavy chain 6 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 CTD
ClinVar
MouseDO		 PMID:15998695 PMID:20215591 PMID:20656787 PMID:21483645 PMID:22011241 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 onset ISO DNA:missense mutations:exon:p.S532P, p.F764L (human)
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:737223 PMID:901918 PMID:1552912 PMID:1739523 PMID:1975599 More... RGD:1556469 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:18533079 PMID:20173211 PMID:21310275 PMID:22958901 PMID:23299917 More... NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983 		JBrowse link
G Myocd myocardin ISS
ISO		 mRNA:increased expression:heart
mRNA:increased expression:left ventricle		 MouseDO
RGD		 PMID:12920479 PMID:12920479 RGD:401793745, RGD:401793745 NCBI chr10:49,833,219...49,928,806
Ensembl chr10:49,836,641...49,927,627 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:18006477 PMID:20801532 PMID:22286171 PMID:23299917 PMID:23861362 More... NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
G Myzap myocardial zonula adherens protein ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 8:72,155,817...72,243,036
Ensembl chr 8:72,131,530...72,243,036 		JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:10545952 PMID:15210538 PMID:19879173 PMID:20159436 PMID:25741868 More... NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938 		JBrowse link
G Ncoa6 nuclear receptor coactivator 6 ISS MouseDO NCBI chr 3:143,890,896...143,961,916
Ensembl chr 3:143,890,896...143,952,268 		JBrowse link
G Nebl nebulette susceptibility ISO DNA:missense mutation:cds:p.N654K (human)
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar
RGD		 PMID:9536098 PMID:11140941 PMID:16199547 PMID:17576681 PMID:20951326 More... RGD:1581084 NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210 		JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28701297 NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137 		JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:19881492 PMID:20970104 PMID:23299917 PMID:24033266 PMID:24503780 More... NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342 		JBrowse link
G Nfatc4 nuclear factor of activated T-cells 4 ISO DNA:missense mutation:cds:p.G160A (human) RGD PMID:12939651 RGD:1580248 NCBI chr15:29,286,998...29,314,610
Ensembl chr15:29,305,535...29,314,610 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:28973413 NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO mRNA:increased expression:endocardium RGD PMID:15698596 RGD:329970287 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:heart (human)		 CTD
RGD		 PMID:11986409 PMID:16762803 PMID:24275554 RGD:11252017 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351 		JBrowse link
G Nppb natriuretic peptide B ameliorates ISO protein:increased expression:serum
mRNA,protein:increased expression:heart (human)
CTD Direct Evidence: marker/mechanism|therapeutic		 CTD
RGD		 PMID:16762803 PMID:18628775 PMID:18068619 PMID:24275554 RGD:2324684, RGD:11252017 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISS MouseDO NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21321305 NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885 		JBrowse link
G Nrap nebulin-related anchoring protein ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 1:255,350,113...255,427,704
Ensembl chr 1:255,350,113...255,427,693 		JBrowse link
G Ntrk3 neurotrophic receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Neonatal cardiomyopathy ClinVar PMID:25741868 NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286 		JBrowse link
G Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO RGD PMID:15345656 RGD:1580779 NCBI chr10:43,774,113...43,919,718
Ensembl chr10:43,789,293...43,919,723 		JBrowse link
G Pdcd1 programmed cell death 1 ISO
ISS		 MouseDO
RGD		 PMID:14595408 RGD:9589058 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937 		JBrowse link
G Pde9a phosphodiesterase 9A ISO protein:increased expression:heart RGD PMID:25799991 RGD:240550109 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948 		JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:9536098 PMID:16199547 PMID:17254821 PMID:17576681 PMID:20801532 More... NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657 		JBrowse link
G Pdlim5 PDZ and LIM domain 5 ISS MouseDO NCBI chr 2:230,952,251...231,120,329
Ensembl chr 2:230,952,248...231,120,275 		JBrowse link
G Pgf placental growth factor ISO RGD PMID:21900081 RGD:6483574 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685 		JBrowse link
G Phc1 polyhomeotic homolog 1 ISS MouseDO NCBI chr 4:155,510,274...155,532,636
Ensembl chr 4:155,510,274...155,533,959 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:2163603 PMID:20400443 PMID:21378009 PMID:21636032 PMID:23396983 More... NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467 		JBrowse link
G Plekhm2 pleckstrin homology and RUN domain containing M2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 5:153,939,582...153,978,625
Ensembl chr 5:153,940,262...153,978,689 		JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:12610310 PMID:12639993 PMID:16235537 PMID:16897780 PMID:17655857 More... NCBI chr20:32,629,537...32,639,559 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment IDA RGD PMID:19242323 RGD:2311057 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ppp1ca protein phosphatase 1 catalytic subunit alpha ISO RGD PMID:12024026 RGD:737728 NCBI chr 1:201,485,117...201,488,734
Ensembl chr 1:201,485,085...201,497,327 		JBrowse link
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28069640 PMID:32666529 NCBI chr 1:79,010,997...79,030,714
Ensembl chr 1:79,011,745...79,030,712 		JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISS MouseDO NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974 		JBrowse link
G Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha ISO
ISS		 MouseDO
RGD		 PMID:15012912 RGD:1580709 NCBI chr14:91,556,743...91,606,391
Ensembl chr14:91,604,121...91,606,907 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23768516 PMID:25741868 PMID:28492532 NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142 		JBrowse link
G Prkca protein kinase C, alpha ISO RGD PMID:9918525 RGD:1581274 NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012 		JBrowse link
G Prkcb protein kinase C, beta ISO RGD PMID:9918525 RGD:1581274 NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536 		JBrowse link
G Prox1 prospero homeobox 1 ISS MouseDO NCBI chr13:101,669,184...101,719,804
Ensembl chr13:101,669,184...101,711,183 		JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 CTD
ClinVar		 PMID:11389157 PMID:17186461 PMID:25741868 PMID:28492532 NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Psen2 presenilin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 CTD
ClinVar		 PMID:17186461 PMID:20458010 PMID:21483645 PMID:22412221 PMID:24754482 More... NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174 		JBrowse link
G Ptger4 prostaglandin E receptor 4 ISS MouseDO NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO
ISS		 ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar
MouseDO
RGD		 PMID:18759865 PMID:21934682 PMID:22923420 PMID:24033266 PMID:24803665 More... RGD:12743610 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rab1a RAB1A, member RAS oncogene family ISS MouseDO NCBI chr14:94,422,219...94,448,799
Ensembl chr14:94,415,275...94,448,248 		JBrowse link
G Rac1 Rac family small GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16155095 NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 CTD
ClinVar		 PMID:24777450 PMID:25741868 PMID:28492532 PMID:29493581 NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO protein:decreased expression:heart ventricle, cytoplasm (human) RGD PMID:25341891 RGD:9835001 NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838 		JBrowse link
G Rbfox1 RNA binding fox-1 homolog 1 ISO mRNA:decreased expression:heart (human) RGD PMID:28949795 RGD:329849000 NCBI chr10:8,152,198...10,248,120
Ensembl chr10:8,152,198...9,686,659 		JBrowse link
G Rbfox2 RNA binding fox-1 homolog 2 ISO RGD PMID:25753418 RGD:329845877 NCBI chr 7:108,810,627...109,054,420
Ensembl chr 7:108,810,628...109,054,691 		JBrowse link
G Rbm20 RNA binding motif protein 20 severity ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
DNA:missense mutations:exon 9:multiple (human)		 ClinVar
RGD		 PMID:18585512 PMID:19712804 PMID:20590677 PMID:21483645 PMID:22004663 More... RGD:11067476 NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060 		JBrowse link
G Rbm24 RNA binding motif protein 24 ISS MouseDO NCBI chr17:18,275,681...18,288,231
Ensembl chr17:18,275,688...18,288,102 		JBrowse link
G Rbp4 retinol binding protein 4 onset ISO protein:increased expression:blood plasma (human) RGD PMID:19926600 RGD:329845592 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO RGD PMID:10600520 RGD:1581297 NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353 		JBrowse link
G Renbp renin binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12612874 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased activity:heart RGD PMID:16043946 RGD:1643022 NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:9220309 RGD:13702906 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G Rtf1 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) ISS MouseDO NCBI chr 3:106,659,363...106,718,956
Ensembl chr 3:106,659,308...106,718,970 		JBrowse link
G Rxra retinoid X receptor alpha ISS MouseDO NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:9536098 PMID:17576681 PMID:19926015 PMID:23861362 PMID:24033266 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:serum RGD PMID:18068619 RGD:2324684 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765 		JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:9521325 PMID:10807545 PMID:10807547 PMID:10966831 PMID:11463728 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 CTD
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Sdhaf4 succinate dehydrogenase complex assembly factor 4 ISS MouseDO NCBI chr 9:26,408,332...26,416,478 JBrowse link
G Sgcb sarcoglycan, beta ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:12566530 PMID:15938573 PMID:25135358 PMID:25741868 PMID:25862795 More... NCBI chr14:34,563,614...34,578,614
Ensembl chr14:34,563,608...34,578,583 		JBrowse link
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25637381 PMID:25741868 PMID:26720722 More... NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840 		JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148 		JBrowse link
G Shbg sex hormone binding globulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25996886 NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057 		JBrowse link
G Sik1 salt-inducible kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991 		JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic
ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 CTD
ClinVar		 PMID:20074989 PMID:21641380 PMID:23520115 PMID:25741868 PMID:28492532 NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733 		JBrowse link
G Slc8a1 solute carrier family 8 member A1 ISO RGD PMID:23436819 RGD:10053661 NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628 		JBrowse link
G Snai1 snail family transcriptional repressor 1 ISS MouseDO NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709 		JBrowse link
G Snx25 sorting nexin 25 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,134,552...46,238,471
Ensembl chr16:46,125,804...46,238,440 		JBrowse link
G Sod2 superoxide dismutase 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism MouseDO
CTD
RGD		 PMID:16155095 PMID:21195081 PMID:11677043 PMID:10425186 RGD:1581260, RGD:1580837 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		JBrowse link
G Sp4 Sp4 transcription factor ISO RGD PMID:15972724 RGD:1581308 NCBI chr 6:139,187,458...139,252,741
Ensembl chr 6:139,192,147...139,252,126 		JBrowse link
G Srf serum response factor ISO
ISS		 MouseDO
RGD		 PMID:16260633 RGD:1580754 NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733 		JBrowse link
G Stk38 serine/threonine kinase 38 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr20:7,034,245...7,067,803
Ensembl chr20:7,034,242...7,068,198 		JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064 		JBrowse link
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar
RGD		 PMID:25741868 PMID:28386937 PMID:28492532 PMID:31250519 PMID:34906501 More... RGD:155663355 NCBI chr 1:2,375,026...2,425,115
Ensembl chr 1:2,375,490...2,424,756 		JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr 1:160,095,108...160,096,401
Ensembl chr 1:160,095,108...160,096,376 		JBrowse link
G Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr13:95,012,160...95,048,131
Ensembl chr13:95,029,225...95,048,087 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar
RGD		 PMID:4685904 PMID:9382096 PMID:11896212 PMID:12468278 PMID:19438153 More... RGD:1578363 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Tbx20 T-box transcription factor 20 ISS
ISO		 ClinVar Annotator: match by term: Primary dilated cardiomyopathy MouseDO
ClinVar		 PMID:25741868 PMID:28492532 PMID:29089047 PMID:31333075 PMID:31568572 NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175 		JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:16183809 PMID:16917909 PMID:17534187 PMID:25741868 PMID:28492532 NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:10655062 PMID:23479141 PMID:24037902 PMID:25298746 PMID:25741868 More... NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887 		JBrowse link
G Tcf7l2 transcription factor 7 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 1:254,785,956...254,978,967
Ensembl chr 1:254,786,091...254,978,967 		JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO protein:increased expression:myocardium RGD PMID:14752511 RGD:1578494 NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISS MouseDO NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:18313022 PMID:19467449 PMID:20010364 PMID:21214875 PMID:22458570 More... NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
G Tmod1 tropomodulin 1 ISS MouseDO NCBI chr 5:60,316,445...60,393,957
Ensembl chr 5:60,338,512...60,393,956 		JBrowse link
G Tmpo thymopoietin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 CTD
ClinVar		 PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 More... NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727 		JBrowse link
G Tnf tumor necrosis factor ISO
ISS		 protein:increased expression:plasma: MouseDO
RGD		 PMID:14984724 RGD:7401238 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421 		JBrowse link
G Tnfrsf9 TNF receptor superfamily member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 5:161,381,662...161,408,003
Ensembl chr 5:161,381,662...161,408,000 		JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
G Tnfsf9 TNF superfamily member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 9:1,944,017...1,946,351
Ensembl chr 9:1,944,017...1,946,345 		JBrowse link
G Tnnc1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:20215591 PMID:21832052 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr16:6,400,801...6,405,634
Ensembl chr16:6,402,171...6,405,634 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10806205 More... RGD:1580422 NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Tnni3k TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268 		JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:181617 PMID:209243 PMID:936231 PMID:2025668 PMID:7898523 More... RGD:1580442 NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
G Tp53 tumor protein p53 IEP RGD PMID:26004897 RGD:13782348 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:11106625 PMID:18533079 PMID:20117437 PMID:20159828 PMID:20215591 More... NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
G Trdn triadin ISO protein:decreased expression:heart RGD PMID:17400717 RGD:7327229 NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:17033963 PMID:20435138 PMID:21741925 PMID:22277967 PMID:25037205 More... NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769 		JBrowse link
G Ttn titin ISO mRNA, protein:altered expression:heart
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism
DNA:variants:cds:		 ClinVar
CTD
RGD		 PMID:9536098 PMID:10051295 PMID:11788824 PMID:11846417 PMID:12145747 More... RGD:1580779, RGD:11565821 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Tubb5 tubulin, beta 5 class I ISO CTD Direct Evidence: marker/mechanism CTD PMID:16155095 NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940 		JBrowse link
G Txn1 thioredoxin 1 ISO RGD PMID:12870673 RGD:1580782 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21247928 PMID:24601690 More... NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156 		JBrowse link
G Ube2i ubiquitin-conjugating enzyme E2I ISO mRNA:increased expression:left ventricle RGD PMID:23360823 RGD:13831294 NCBI chr10:14,277,749...14,294,681
Ensembl chr10:69,701,618...69,702,443
Ensembl chr10:69,701,618...69,702,443 		JBrowse link
G Ucn urocortin ISO protein:increased expression:heart left ventricle RGD PMID:11087261 PMID:14577573 RGD:1642796, RGD:1580792 NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950 		JBrowse link
G Ucp1 uncoupling protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr19:24,808,782...24,816,853
Ensembl chr19:24,808,783...24,816,852 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar
RGD		 PMID:11815424 PMID:16949038 PMID:17785437 PMID:20474083 PMID:23396983 More... RGD:1580356 NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
G Wdr12 WD repeat domain 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25915632 NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469 		JBrowse link
G Yme1l1 YME1-like 1 ATPase ISS MouseDO NCBI chr17:85,287,607...85,326,068
Ensembl chr17:85,287,554...85,326,335 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO protein:increased expression:heart: RGD PMID:25196150 PMID:18658259 RGD:155882481, RGD:155882484 NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205 		JBrowse link
dilated cardiomyopathy 1A 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: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:24439875 PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:21353195 PMID:24033266 PMID:25741868 PMID:28436997 PMID:28492532 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28074886 PMID:28492532 PMID:30847666 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 PMID:34103343 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dot1l DOT1 like histone lysine methyltransferase ISS OMIM:115200 MouseDO NCBI chr 7:8,918,764...8,959,474
Ensembl chr 7:8,917,786...8,956,475 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:16199547 PMID:23911551 PMID:24033266 PMID:25741868 PMID:28153106 More... NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:20716751 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24125834 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:26676105 NCBI chr16:32,917,448...32,920,791
Ensembl chr16:32,917,823...32,919,891 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:19377068 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Lmna lamin A/C ISO
ISS		 ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
OMIM:115200		 OMIM
ClinVar
MouseDO		 PMID:262236 PMID:2007407 PMID:2270059 PMID:2338570 PMID:2526018 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:28492532 PMID:32041611 PMID:33303402 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:11499718 PMID:11815426 PMID:12110947 PMID:12707239 PMID:12818575 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28082330 PMID:28492532 PMID:33500567 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30105547 PMID:34816733 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342 		JBrowse link
G Nfatc2 nuclear factor of activated T-cells 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chr 3:157,195,970...157,328,640
Ensembl chr 3:157,198,872...157,328,325 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Rapgef5 Rap guanine nucleotide exchange factor 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chr 6:138,445,184...138,679,943
Ensembl chr 6:138,437,991...138,679,936 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:19712804 PMID:20590677 PMID:22004663 PMID:22466703 PMID:24033266 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:16712702 PMID:18508782 PMID:19716085 PMID:22581653 PMID:23631430 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Sema3e semaphorin 3E ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chr 4:20,297,534...20,555,287
Ensembl chr 4:20,299,718...20,555,229 		JBrowse link
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25637381 PMID:25741868 NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840 		JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:20074989 PMID:23520115 PMID:25741868 PMID:28492532 NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:28492532 NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation ClinVar PMID:9536098 PMID:17576681 PMID:21520333 PMID:22335739 PMID:23418287 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Unc45b unc-45 myosin chaperone B ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chr10:67,845,464...67,873,143
Ensembl chr10:67,845,462...67,873,389 		JBrowse link
dilated cardiomyopathy 1AA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction | ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14567970 PMID:16199547 PMID:17097056 PMID:17576681 More... NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Mt1m metallothionein 1M ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr20:3,159,037...3,159,409
Ensembl chr 5:119,728,811...119,730,073 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
dilated cardiomyopathy 1B 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: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28074886 PMID:28492532 NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:14732481 PMID:20981092 PMID:21408211 PMID:24033266 PMID:25741868 More... NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:9536098 PMID:17576681 PMID:21459883 PMID:24033266 PMID:24558114 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:10717012 PMID:11073539 PMID:12620971 PMID:14724127 PMID:19587455 More... NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:7599634 PMID:7849724 PMID:11710958 PMID:19760747 PMID:24033266 More... NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:18639457 PMID:20031616 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15941723 PMID:20152563 PMID:20716751 PMID:21606396 PMID:21636032 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G Fktn fukutin ISO DNA:insertion, missense mutations:exon:p.R179T (c.536G>C), p.Q358P (c.1073A>C) (human)
ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:32969603 PMID:33048919 PMID:34120883 More... RGD:11576324 NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:27908349 PMID:28492532 PMID:32112656 PMID:33874732 NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15668942 PMID:20474083 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:11897440 PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:2073894 PMID:9048664 PMID:9536098 PMID:9631872 PMID:10521296 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15998695 PMID:20215591 PMID:21483645 PMID:23299917 PMID:23861362 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:12951062 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:22286171 PMID:23299917 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 PMID:32058062 PMID:32814711 PMID:32870709 More... NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:22558107 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:19712804 PMID:20590677 PMID:21483645 PMID:22004663 PMID:23861363 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:26132555 PMID:28492532 PMID:36082968 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:9521325 PMID:11901046 PMID:12106943 PMID:14523039 PMID:15671429 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25645515 PMID:25741868 PMID:32576985 NCBI chr10:57,795,845...57,800,363
Ensembl chr10:57,795,382...57,800,363 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:9241277 PMID:11735257 PMID:18006163 PMID:18467357 PMID:18533079 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15542288 PMID:16199547 PMID:19412328 PMID:20031601 PMID:20215591 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
G Ttn titin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial		 CTD
ClinVar		 PMID:11788824 PMID:12145747 PMID:17444505 PMID:18948003 PMID:21520333 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15769782 PMID:16236538 PMID:16712796 PMID:17785437 PMID:23299917 More... NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
dilated cardiomyopathy 1BB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: DSG2-related condition | ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB | ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2040044 PMID:9536098 PMID:12586364 PMID:16025435 PMID:16199547 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy ClinVar PMID:19377068 PMID:23396983 PMID:24033266 PMID:25351510 PMID:25741868 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Lmod2 leiomodin 2 ISO ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy ClinVar PMID:35082396 NCBI chr 4:53,067,428...53,075,124
Ensembl chr 4:53,067,428...53,075,120 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy ClinVar PMID:11684629 PMID:12923187 PMID:14654368 PMID:15623536 PMID:15769782 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
dilated cardiomyopathy 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldb3 LIM domain binding 3 ISO
ISS		 ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Dilated cardiomyopathy 1C | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 24 | ClinVar Annotator: match by term: LDB3-related condition | ClinVar Annotator: match by term: Left ventricular noncompaction 3
OMIM:601493
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:4855680 PMID:9536098 PMID:11696561 PMID:14660611 PMID:14662268 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
dilated cardiomyopathy 1CC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nexn nexilin (F actin binding protein) ISO
ISS		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC
OMIM:613122
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:19881492 More... NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342 		JBrowse link
dilated cardiomyopathy 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnt2 troponin T2, cardiac type ISO
ISS		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1D | ClinVar Annotator: match by term: Left ventricular noncompaction 6
OMIM:601494
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:181617 PMID:209243 PMID:209262 PMID:541918 PMID:936231 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
dilated cardiomyopathy 1DD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbip1 BBSome interacting protein 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD ClinVar PMID:28492532 NCBI chr 1:252,943,589...252,959,512
Ensembl chr 1:252,945,557...252,959,352 		JBrowse link
G Pdcd4 programmed cell death 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD ClinVar PMID:28492532 NCBI chr 1:252,921,342...252,944,278
Ensembl chr 1:252,921,392...252,944,275 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO
ISS		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD | ClinVar Annotator: match by term: RBM20-related condition
OMIM:613172
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:16783378 PMID:17576681 PMID:18585512 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD ClinVar PMID:28492532 NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD ClinVar PMID:2025668 PMID:15358028 PMID:16199547 PMID:19754353 PMID:24033266 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
dilated cardiomyopathy 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2 | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1E		 CTD
OMIM
ClinVar		 PMID:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2107088 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
dilated cardiomyopathy 1EE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh6 myosin heavy chain 6 ISO
ISS		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1EE
OMIM:613252
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11815426 PMID:15998695 PMID:16199547 PMID:17576681 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
dilated cardiomyopathy 1FF term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf5 KLF transcription factor 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1FF ClinVar NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1FF
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3144325 PMID:3349559 PMID:9241277 PMID:10806205 PMID:11735257 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
dilated cardiomyopathy 1G 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: Dilated cardiomyopathy 1G ClinVar PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090 		JBrowse link
G Ccdc141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:28492532 PMID:30557390 NCBI chr 3:61,948,614...62,109,968
Ensembl chr 3:61,948,646...62,110,079 		JBrowse link
G Fkbp7 FKBP prolyl isomerase 7 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:28492532 More... NCBI chr 3:61,609,384...61,623,710
Ensembl chr 3:61,608,557...61,623,280 		JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:28492532 More... NCBI chr 3:61,594,644...61,605,051
Ensembl chr 3:61,596,641...61,605,045 		JBrowse link
G Plekha3 pleckstrin homology domain containing A3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:21681106 PMID:22335739 PMID:23975875 PMID:24395473 More... NCBI chr 3:61,623,434...61,644,649
Ensembl chr 3:61,623,434...61,645,166 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:28492532 More... NCBI chr 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347 		JBrowse link
G Ttn titin ISO
ISS		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1G
OMIM:604145
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1745277 PMID:4315225 PMID:9536098 PMID:9804419 PMID:10051295 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
dilated cardiomyopathy 1GG term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG OMIM
ClinVar		 PMID:1492653 PMID:7550341 PMID:9536098 PMID:10721988 PMID:10746566 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
dilated cardiomyopathy 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb3 adrenoceptor beta 3 susceptibility ISO DNA:missense mutation, haplotype:cds:p.W64R rs4994 (human) RGD PMID:20123316 RGD:5684357 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO mRNA:increased expression:left ventricle: RGD PMID:19332114 RGD:10053590 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:21353195 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28669108 NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 treatment ISO DNA:SNP:promoter:-344C>T (human) RGD PMID:12031704 RGD:1576426 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:25741868 PMID:28074886 PMID:28492532 PMID:30847666 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:25741868 PMID:28492532 PMID:34103343 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:20716751 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24125834 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:19377068 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:262236 PMID:2007407 PMID:2338570 PMID:2526018 PMID:2733290 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:28492532 PMID:32041611 PMID:33303402 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:11499718 PMID:11815426 PMID:12110947 PMID:12707239 PMID:12818575 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:24033266 PMID:25741868 PMID:28082330 PMID:28492532 PMID:33500567 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:19712804 PMID:20590677 PMID:22004663 PMID:22466703 PMID:24033266 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism (human)
DNA:polymorphisms (human)		 RGD PMID:15996167 PMID:10432437 PMID:15498363 RGD:5147650, RGD:5147858, RGD:5147795 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*0303 (human)
DNA:polymorphisms (human)		 RGD PMID:15996167 PMID:10432437 RGD:5147650, RGD:5147858 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:16712702 PMID:18508782 PMID:19716085 PMID:22581653 PMID:23631430 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:20074989 PMID:23520115 PMID:25741868 PMID:28492532 NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO RGD PMID:12056860 RGD:9681470 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733 		JBrowse link
G Tnf tumor necrosis factor severity ISO RGD PMID:14676433 RGD:7401234 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:28492532 NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Trpc5 transient receptor potential cation channel, subfamily C, member 5 ISO mRNA,protein:increased expression:heart: RGD PMID:16950785 RGD:10044019 NCBI chr  X:107,946,163...108,230,991
Ensembl chr  X:107,939,131...108,230,991 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:21520333 PMID:22335739 PMID:23418287 PMID:23975875 PMID:24033266 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
dilated cardiomyopathy 1HH term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag3 BAG cochaperone 3 ISO
ISS		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1HH
OMIM:613881
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2159883 PMID:9536098 PMID:17576681 PMID:19085932 PMID:20301672 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
dilated cardiomyopathy 1I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Des desmin ISO
ISS		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1I
OMIM:604765
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:9697706 PMID:10430757 PMID:10717012 PMID:10905661 More... NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1I ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:16199542 PMID:16715312 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1I ClinVar NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144 		JBrowse link
dilated cardiomyopathy 1II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C8h11orf52 similar to human chromosome 11 open reading frame 52 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533 		JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1560021 PMID:2299599 PMID:9536098 PMID:11013455 PMID:14681890 More... NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479 		JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 8:51,093,267...51,094,528
Ensembl chr 8:51,081,342...51,094,533 		JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830 		JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238 		JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729 		JBrowse link
dilated cardiomyopathy 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Dilated cardiomyopathy 1J
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10769282 PMID:11159937 PMID:15735644 PMID:16199547 More... NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976 		JBrowse link
dilated cardiomyopathy 1JJ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ | ClinVar Annotator: match by term: LAMA4-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16204254 PMID:17576681 PMID:17646580 More... NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
dilated cardiomyopathy 1KK term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mypn myopalladin ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 4 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 22 | ClinVar Annotator: match by term: MYPN-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18006477 PMID:20801532 More... NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
dilated cardiomyopathy 1L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgcd sarcoglycan, delta ISO
ISS		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1L
OMIM:606685
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8841194 PMID:9536098 PMID:10735275 PMID:10838250 PMID:10974018 More... NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840 		JBrowse link
dilated cardiomyopathy 1LL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481 		JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953 		JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482 		JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003 		JBrowse link
G C5h1orf159 similar to human chromosome 1 open reading frame 159 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955 		JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882 		JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664 		JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333 		JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326 		JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651 		JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650 		JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,648,494...166,648,582 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366 		JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543 		JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716 		JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492 		JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322 		JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1LL | ClinVar Annotator: match by term: Left ventricular noncompaction 8 | ClinVar Annotator: match by term: PRDM16-related condition | ClinVar Annotator: match by term: PRDM16-related congenital heart disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23768516 PMID:24033266 More... NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601 		JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:165,462,610...165,465,213 JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,497,643...166,500,647
Ensembl chr 5:166,496,755...166,500,611 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,723,346...166,726,236
Ensembl chr 5:166,724,984...166,725,751 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733 		JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021 		JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,048,669...166,050,423
Ensembl chr 5:166,046,565...166,050,433 		JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703 		JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857 		JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804 		JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637 		JBrowse link
dilated cardiomyopathy 1M 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
ISS		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1M
OMIM:607482
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8994428 PMID:9039266 PMID:12507422 PMID:12642359 PMID:14567970 More... NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653 		JBrowse link
dilated cardiomyopathy 1MM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:950554 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
dilated cardiomyopathy 1NN term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1NN
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1760348 PMID:10064593 PMID:17603482 PMID:17603483 PMID:17603485 More... NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
dilated cardiomyopathy 1O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1O
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1575858 PMID:9536098 PMID:12166651 PMID:15034580 PMID:16199547 More... NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Golt1b golgi transport 1B ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 4:175,333,056...175,346,156
Ensembl chr 4:175,333,092...175,346,153 		JBrowse link
G Gys2 glycogen synthase 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 4:175,365,054...175,406,228
Ensembl chr 4:175,365,054...175,406,228 		JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603 		JBrowse link
G Ldhb lactate dehydrogenase B ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 4:175,428,382...175,446,403
Ensembl chr 4:175,428,385...175,446,403 		JBrowse link
G Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 4:175,292,124...175,311,143
Ensembl chr 4:175,292,177...175,308,689 		JBrowse link
G Recql RecQ like helicase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 4:175,308,337...175,332,965
Ensembl chr 4:175,304,117...175,332,945 		JBrowse link
G Spx spexin hormone ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 4:175,356,044...175,362,082
Ensembl chr 4:175,356,247...175,362,082 		JBrowse link
Dilated Cardiomyopathy 1OO term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vezf1 vascular endothelial zinc finger 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1OO ClinVar
OMIM		 PMID:36657711 NCBI chr10:72,859,669...72,876,111
Ensembl chr10:72,859,877...72,876,111 		JBrowse link
dilated cardiomyopathy 1P 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: Dilated cardiomyopathy 1P ClinVar PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16829191 More... NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516 		JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1P
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16829191 More... NCBI chr20:32,629,537...32,639,559 JBrowse link
dilated cardiomyopathy 1R term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actc1 actin, alpha, cardiac muscle 1 ISO
ISS		 OMIM:613424
ClinVar Annotator: match by term: Dilated cardiomyopathy 1R		 OMIM
MouseDO
ClinVar		 PMID:676951 PMID:2255271 PMID:9536098 PMID:9563954 PMID:10494087 More... NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523 		JBrowse link
dilated cardiomyopathy 1S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Des desmin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:29253866 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 PMID:28492532 NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 PMID:28492532 PMID:29253866 PMID:32826072 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:11897440 PMID:15219508 PMID:15539782 PMID:16061563 PMID:16537768 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Biventricular noncompaction cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy 1S | ClinVar Annotator: match by term: Left ventricular noncompaction 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:564455 PMID:737223 PMID:901918 PMID:1218377 PMID:1423936 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:18533079 PMID:20173211 PMID:21310275 PMID:22958901 PMID:23299917 More... NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983 		JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:19881492 PMID:20970104 PMID:23299917 PMID:24033266 PMID:24503780 More... NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:19712804 PMID:20590677 PMID:22004663 PMID:22466703 PMID:24033266 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060 		JBrowse link
G Tnnc1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:18572189 PMID:19439414 PMID:20215591 PMID:20459070 PMID:21056975 More... NCBI chr16:6,400,801...6,405,634
Ensembl chr16:6,402,171...6,405,634 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 PMID:25589632 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:24033266 PMID:24062880 PMID:24503780 PMID:25741868 PMID:27532257 More... NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
dilated cardiomyopathy 1T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1T ClinVar PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 More... NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727 		JBrowse link
dilated cardiomyopathy 1U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1U
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 More... NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
dilated cardiomyopathy 1V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psen2 presenilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1V
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9384602 PMID:14623725 PMID:14769392 PMID:15130954 PMID:15663477 More... NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174 		JBrowse link
dilated cardiomyopathy 1W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3m1 adaptor related protein complex 3 subunit mu 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1W ClinVar PMID:11815424 PMID:16236538 PMID:21681106 NCBI chr15:3,246,616...3,264,846
Ensembl chr15:3,246,926...3,264,844 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1W
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11815424 PMID:15331426 PMID:15769782 PMID:16199547 More... NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
dilated cardiomyopathy 1X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fktn fukutin ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Dilated cardiomyopathy 1X
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
dilated cardiomyopathy 1Y term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y ClinVar PMID:28492532 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Tpm1 tropomyosin 1 ISO
ISS		 OMIM:611878
ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y | ClinVar Annotator: match by term: Left ventricular noncompaction 9 | ClinVar Annotator: match by term: TPM1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
dilated cardiomyopathy 1Z 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: Dilated cardiomyopathy 1Z
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11385718 PMID:15542288 PMID:16199547 PMID:16302972 More... NCBI chr16:6,400,801...6,405,634
Ensembl chr16:6,402,171...6,405,634 		JBrowse link
dilated cardiomyopathy 2A 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: Dilated cardiomyopathy 2A ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated cardiomyopathy 2A
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10806205 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 2A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721 		JBrowse link
dilated cardiomyopathy 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy 2B		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:21965549 PMID:24033266 PMID:25741868 More... NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107 		JBrowse link
dilated cardiomyopathy 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc30 coiled-coil domain containing 30 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2c ClinVar PMID:25741868 PMID:28492532 PMID:29754768 NCBI chr 5:132,926,767...133,019,635
Ensembl chr 5:132,926,615...133,019,659 		JBrowse link
G Ppcs phosphopantothenoylcysteine synthetase ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2c OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29754768 NCBI chr 5:133,023,077...133,026,899
Ensembl chr 5:133,023,121...133,026,933 		JBrowse link
dilated cardiomyopathy 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl3l ribosomal protein L3-like ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2D OMIM
ClinVar		 PMID:25741868 PMID:32514796 PMID:32870709 PMID:35323613 PMID:37308880 NCBI chr10:13,753,914...13,764,458
Ensembl chr10:13,753,886...13,764,457 		JBrowse link
dilated cardiomyopathy 2E 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: Cardiomyopathy, dilated, 2E OMIM
ClinVar		 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26718681 PMID:28254189 More... NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904 		JBrowse link
dilated cardiomyopathy 2F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag5 BAG cochaperone 5 ISO
ISS		 ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2F
OMIM:619747		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:35044787 NCBI chr 6:130,768,467...130,772,122
Ensembl chr 6:130,768,141...130,772,970 		JBrowse link
dilated cardiomyopathy 2G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmod2 leiomodin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2G OMIM
ClinVar		 PMID:25741868 PMID:31517052 PMID:34888509 PMID:35082396 NCBI chr 4:53,067,428...53,075,124
Ensembl chr 4:53,067,428...53,075,120 		JBrowse link
Dilated Cardiomyopathy 2H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Get3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2H OMIM
ClinVar		 PMID:31461301 NCBI chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193 		JBrowse link
Dilated Cardiomyopathy 2I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cap2 cyclase associated actin cytoskeleton regulatory protein 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2I OMIM
ClinVar		 PMID:25741868 PMID:30518548 PMID:33083013 PMID:34862840 NCBI chr17:18,054,234...18,203,453
Ensembl chr17:18,054,431...18,203,373 		JBrowse link
Dilated Cardiomyopathy 2J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2j OMIM
ClinVar		 PMID:10862770 PMID:20661277 PMID:25741868 PMID:32870709 PMID:37561591 NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970 		JBrowse link
dilated cardiomyopathy 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B OMIM
ClinVar		 PMID:1549596 PMID:1644931 PMID:2691353 PMID:7581396 PMID:7599638 More... NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar PMID:25741868 NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
Dilated Cardiomyopathy with Left Ventricular Noncompaction 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: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29447731 PMID:31110529 PMID:31333075 More... NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Alpk3 alpha-kinase 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 1:135,014,455...135,062,294
Ensembl chr 1:135,014,499...135,062,302 		JBrowse link
G C9h2orf49 similar to human chromosome 2 open reading frame 49 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:45,371,396...45,382,123
Ensembl chr 9:45,371,430...45,382,120 		JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:27697855 PMID:27930701 PMID:28492532 More... NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:19937601 PMID:25741868 PMID:28492532 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31333075 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:20129281 PMID:20152563 PMID:21606396 PMID:21636032 PMID:21723241 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:14,687,193...14,944,232
Ensembl chr18:14,587,852...14,944,261 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31333075 More... NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976 		JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:45,388,979...45,462,421
Ensembl chr 9:45,388,981...45,431,192 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:17646576 PMID:20662977 PMID:24569893 PMID:25741868 PMID:26688388 More... NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:34814702 NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:26220970 PMID:28492532 PMID:29334134 More... NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:925171 PMID:12818575 PMID:18258667 PMID:19574547 PMID:20624503 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:27789736 PMID:28491533 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:1430197 PMID:1430834 PMID:1552912 PMID:7731997 PMID:8533830 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29447731 PMID:30847666 PMID:31110529 More... NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:34540771 NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:15489853 PMID:25741868 PMID:28492532 PMID:34540771 NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:23768516 PMID:25741868 PMID:31333075 PMID:31568572 PMID:34540771 NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:34540771 NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:27496873 PMID:27531932 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction | ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:12354768 PMID:12820704 PMID:15466642 PMID:15840476 PMID:16540748 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:19438153 PMID:19700766 PMID:20530761 PMID:24033266 PMID:24342716 More... NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:30847666 PMID:31983221 NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 PMID:37477868 NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
G Tnnc1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr16:6,400,801...6,405,634
Ensembl chr16:6,402,171...6,405,634 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:7592712 PMID:15774859 PMID:17010989 PMID:17872964 PMID:23690394 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:2025668 PMID:7898523 PMID:9536098 PMID:12818575 PMID:12881443 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 PMID:34540771 NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:18948003 PMID:22335739 PMID:23975875 PMID:24033266 PMID:24395473 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction ClinVar PMID:11815424 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3198322 PMID:9536098 PMID:12101406 PMID:12802069 PMID:15941723 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2007407 PMID:2270059 PMID:2526018 PMID:2733290 PMID:4684700 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
endomyocardial fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme IEP protein:increased activity:lung, heart left ventricle, plasma (rat) RGD PMID:12131554 RGD:8157600 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Ace2 angiotensin converting enzyme 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19221212 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977 		JBrowse link
G Adrb1 adrenoceptor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14502278 NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:20837116 PMID:25139994 PMID:25488910 PMID:27099261 PMID:30703374 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP RGD PMID:14967845 RGD:1581155 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccn2 cellular communication network factor 2 IEP
IDA		 protein:increased expression:myocardium, cardiomyocyte (rat) RGD PMID:19293040 PMID:19902320 RGD:2314529, RGD:2314357 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734 		JBrowse link
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Becker's disease ClinVar PMID:758138 PMID:1379744 PMID:7581380 PMID:7874130 PMID:7951215 More... NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:11300427 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO CTD Direct Evidence: therapeutic CTD PMID:34310909 NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168 		JBrowse link
G Fndc5 fibronectin type III domain containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:30703374 NCBI chr 5:141,481,593...141,491,257
Ensembl chr 5:141,481,590...141,490,731 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30450786 PMID:36462176 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501 		JBrowse link
G Klf15 KLF transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34310909 NCBI chr 4:122,965,718...122,978,403
Ensembl chr 4:122,965,807...122,978,374 		JBrowse link
G Mir125b2 microRNA 125b-2 ISO CTD Direct Evidence: therapeutic CTD PMID:29122578 NCBI chr11:16,245,620...16,245,707 JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35218467 NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805 		JBrowse link
G Sirt4 sirtuin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27099261 NCBI chr12:41,125,533...41,139,440
Ensembl chr12:41,131,262...41,139,439 		JBrowse link
G Sirt6 sirtuin 6 ISO CTD Direct Evidence: therapeutic CTD PMID:34713381 NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450231 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Uts2 urotensin 2 IEP RGD PMID:17184580 RGD:2306814 NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237 		JBrowse link
G Uts2r urotensin 2 receptor IMP RGD PMID:16919371 RGD:2306833 NCBI chr10:106,438,092...106,439,252
Ensembl chr10:106,438,092...106,439,252 		JBrowse link
Familial Atrial Fibrillation 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 17 ClinVar PMID:23604097 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292 		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 chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 More... NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: 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 chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31395899 PMID:33874732 NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
G C9h2orf49 similar to human chromosome 2 open reading frame 49 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr 9:45,371,396...45,382,123
Ensembl chr 9:45,371,430...45,382,120 		JBrowse link
G Calm3 calmodulin 3 susceptibility ISO DNA:polymorphism:promoter:¿¿¿34T>A(human) RGD PMID:19429631 RGD:13792494 NCBI chr 1:77,590,668...77,597,776
Ensembl chr 1:77,589,230...77,592,207 		JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:14672715 PMID:15580566 NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More... NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:12642359 PMID:14567970 PMID:16199547 PMID:16352453 PMID:20087448 More... NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653 		JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:11058912 PMID:24033266 PMID:26084686 PMID:28492532 NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335 		JBrowse link
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978 		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 chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28569743 PMID:31333075 More... NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:7971964 PMID:17033975 PMID:20031616 PMID:20031617 PMID:20197793 More... NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:18632414 PMID:19924139 PMID:20738328 PMID:23381804 PMID:23861362 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr18:14,687,193...14,944,232
Ensembl chr18:14,587,852...14,944,261 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25246303 PMID:26857240 PMID:28492532 NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr 9:45,388,979...45,462,421
Ensembl chr 9:45,388,981...45,431,192 		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 chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:2171331 PMID:8738659 PMID:8878432 PMID:9100224 PMID:9395081 More... NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More... NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723 		JBrowse link
G Ilk integrin-linked kinase ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:11402068 PMID:11694518 PMID:14745274 PMID:16199547 More... NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25500949 PMID:25741868 PMID:28492532 PMID:30235249 More... NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:21859740 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27662471 More... NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:15368194 PMID:16487223 PMID:22581653 PMID:24681347 PMID:25741868 More... NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:11222472 PMID:11468227 PMID:11668638 PMID:14998624 PMID:20167303 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30086531 More... NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:28492532 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29247119 PMID:30847666 PMID:31333075 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:8621584 PMID:9536098 PMID:12057196 PMID:16407522 PMID:16585054 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr18:1,802,519...1,926,988
Ensembl chr18:1,802,519...1,920,689 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO DNA:nonsense mutations: :multiple
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation, splice-site mutation, deletion:exon, intron:multiple
DNA:missense mutations: :p.V771M, p.V342D, p.A627V (human)
DNA:missense mutations, nonsense mutations: :multiple		 ClinVar
CTD
RGD		 PMID:203962 PMID:203979 PMID:208206 PMID:208208 PMID:739990 More... RGD:1580239, RGD:1580237, RGD:1580234, RGD:1580238 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myh6 myosin heavy chain 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy		 CTD
ClinVar
RGD		 PMID:11815426 PMID:15998695 PMID:20215591 PMID:20458009 PMID:20656787 More... RGD:11065341 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy		 CTD
ClinVar		 PMID:199274 PMID:546198 PMID:564455 PMID:1423936 PMID:1430197 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Myl2 myosin light chain 2 ISO DNA:missense mutations:exon:p.F18L, p.R58Q (human)
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, splice-site mutation:exon, intron:multiple		 ClinVar
CTD
RGD		 PMID:08673105 PMID:9241277 PMID:09535554 PMID:11102452 PMID:11748309 More... RGD:1580240, RGD:1580241 NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983 		JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:8673105 PMID:11174330 PMID:12021217 PMID:16754800 PMID:18409188 More... NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
G Myl9 myosin light chain 9 ISO RGD PMID:16076902 RGD:1582589 NCBI chr 3:145,281,943...145,288,333
Ensembl chr 3:145,281,937...145,288,333 		JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 2:211,141,463...211,168,187
Ensembl chr 2:211,141,463...211,168,221 		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 chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More... NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210 		JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:16199547 PMID:20970104 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:14672715 PMID:15580566 NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:19955750 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20857253 More... NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: 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 chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: 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 chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25163546 PMID:25351510 PMID:25741868 PMID:28492532 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: 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 chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: 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 chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:27763634 PMID:28492532 NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:11402068 PMID:11694518 PMID:14745274 PMID:16199547 More... NCBI chr 1:160,095,108...160,096,401
Ensembl chr 1:160,095,108...160,096,376 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: 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 chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26214305 PMID:28492532 PMID:33552729 NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy		 CTD
ClinVar		 PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10806205 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:209262 PMID:541918 PMID:2946667 PMID:7898523 PMID:8205619 More... RGD:1559062 NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... RGD:1580447 NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
G Trim63 tripartite motif containing 63 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:22821932 PMID:24436435 PMID:25741868 PMID:25801283 PMID:28492532 More... NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: 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 chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26537620 PMID:28492532 PMID:30683924 PMID:31554435 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:20474083 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
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 chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015 		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 chr14:35,680,601...35,910,703
Ensembl chr14:35,681,304...35,909,503 		JBrowse link
Familial Restrictive Cardiomyopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif20a kinesin family member 20A ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 6 OMIM
ClinVar		 PMID:29357359 NCBI chr18:26,230,294...26,238,780
Ensembl chr18:26,230,230...26,238,780 		JBrowse link
G Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 6 ClinVar PMID:25741868 NCBI chr13:95,012,160...95,048,131
Ensembl chr13:95,029,225...95,048,087 		JBrowse link
hypertrophic cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17245405 PMID:25741868 PMID:28492532 NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Acacb acetyl-CoA carboxylase beta ISO RGD PMID:31709908 RGD:329901803 NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655 		JBrowse link
G Ace angiotensin I converting enzyme no_association ISO DNA:insertion/deletion:intron RGD PMID:9270088 RGD:1566491 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Ace2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:myocardium (human) RGD PMID:32448590 RGD:40818260 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977 		JBrowse link
G Acp2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:77,175,022...77,185,180
Ensembl chr 3:77,175,895...77,185,680 		JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 More... NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17097056 PMID:20022194 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Adgrl4 adhesion G protein-coupled receptor L4 ISO protein:decreased expression:heart: RGD PMID:22606234 RGD:13838662 NCBI chr 2:240,354,909...240,457,231
Ensembl chr 2:240,354,941...240,457,225 		JBrowse link
G Adm adrenomedullin IEP associated with Diabetes Mellitus, Experimental;protein:decreased expression:cardiomyocyte RGD PMID:17355819 RGD:1625294 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654 		JBrowse link
G Agt angiotensinogen no_association
susceptibility		 ISO DNA:polymorphisms: :p.T174M, p.M235T (human)
DNA:polymorphism:cds:p.M235T(human)		 RGD PMID:9270088 PMID:9023164 RGD:1566491, RGD:13432163 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Ahr aryl hydrocarbon receptor IMP RGD PMID:19889059 RGD:401794453 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Akap6 A-kinase anchoring protein 6 ISO RGD PMID:24812305 RGD:11251930 NCBI chr 6:70,184,101...70,624,369
Ensembl chr 6:70,184,175...70,619,738 		JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
G Alpk3 alpha-kinase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:21441111 PMID:24033266 PMID:26846950 PMID:27106955 PMID:28492532 More... NCBI chr 1:135,014,455...135,062,294
Ensembl chr 1:135,014,499...135,062,302 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12571597 PMID:15178757 PMID:17242276 PMID:22581653 PMID:23174487 More... NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO DNA:missense mutations:exon:p.P52A, p.T123M, p.I280V (human)
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy		 ClinVar
RGD		 PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... RGD:5133276 NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919 		JBrowse link
G Aph1b aph-1 homolog B, gamma secretase subunit ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:67,429,198...67,454,735
Ensembl chr 8:67,429,198...67,450,243 		JBrowse link
G Arfgap2 ADP-ribosylation factor GTPase activating protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:77,236,305...77,248,445
Ensembl chr 3:77,236,322...77,248,455 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO
IEP		 protein:decreased expression:heart
protein:decreased expression:cardiomyocyte		 RGD PMID:25209900 PMID:25820375 RGD:11558015, RGD:13792650 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Becn1 beclin 1 ISO protein:increased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742 		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 chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		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 chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 severity ISO DNA:missense mutation:cds:c.1598C>T (p.S533L)(human)
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy		 ClinVar
RGD		 PMID:23861362 PMID:25741868 PMID:28492532 PMID:28614222 RGD:13513985 NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106 		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 chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015 		JBrowse link
G Capn2 calpain 2 IEP protein:increased expression, activity:nucleus RGD PMID:25820375 RGD:13792650 NCBI chr13:94,150,244...94,200,969
Ensembl chr13:94,150,240...94,200,969 		JBrowse link
G Car12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440 		JBrowse link
G Casp3 caspase 3 IEP associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:18192848 RGD:2293330 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		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 chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G Cav1 caveolin 1 ISS MouseDO NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Cav3 caveolin 3 ISO
ISS		 ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
MouseDO		 NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Cd36 CD36 molecule IEP mRNA:increased expression:heart RGD PMID:19189074 RGD:2307222 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354 		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 chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516 		JBrowse link
G Cma1 chymase 1 susceptibility ISO DNA:snp:5' utr:g.-1903G>A rs1800875 (human) RGD PMID:8759823 RGD:5128572 NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233 		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 chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO RGD PMID:12474143 RGD:1598468 NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261 		JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More... NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
G Cs citrate synthase ISO RGD PMID:10354207 RGD:243048483 NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421 		JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO
ISS		 ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
MouseDO
RGD		 PMID:8994428 PMID:9039266 PMID:12507422 PMID:12642359 PMID:14567970 More... RGD:1598499 NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653 		JBrowse link
G Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:77,247,393...77,416,307
Ensembl chr 3:77,248,375...77,416,274 		JBrowse link
G Ctf1 cardiotrophin 1 ISO
IEP		 ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
mRNA:increased expression:heatt (rat)		 ClinVar
RGD		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:24247421 RGD:401793741 NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335 		JBrowse link
G Ctnnb1 catenin beta 1 treatment ISO protein:increased phosphorylation:myocyte: RGD PMID:14993121 RGD:1598718 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Ctsl cathepsin L ISO RGD PMID:19096818 RGD:2315555 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 IEP mRNA:increased expression:heatt (rat)
mRNA, protein:increased expression:heart (rat)		 RGD PMID:24247421 PMID:19889059 RGD:401793741, RGD:401794453 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 IEP mRNA, protein:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 IEP mRNA, protein:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023 		JBrowse link
G Cyp4f4 cytochrome P450, family 4, subfamily f, polypeptide 4 IEP mRNA:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chr 7:11,717,208...11,733,507
Ensembl chr 7:11,717,208...11,733,506 		JBrowse link
G Cyp4f5 cytochrome P450, family 4, subfamily f, polypeptide 5 IEP mRNA:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chr 7:11,544,040...11,558,982
Ensembl chr 7:11,544,082...11,558,978 		JBrowse link
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:32528171 PMID:10591032 RGD:13525010 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19937601 PMID:19959795 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO protein:increased expression:cardiac muscle tissue of interventricular septum (human) RGD PMID:32051532 RGD:126925233 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20031617 PMID:20152563 PMID:20400443 PMID:20716751 PMID:20857253 More... NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20400443 PMID:21220045 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
RGD		 PMID:18632414 PMID:19863551 PMID:21062920 PMID:21397041 PMID:21606390 More... RGD:1580892 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:30086531 PMID:31568572 NCBI chr18:14,687,193...14,944,232
Ensembl chr18:14,587,852...14,944,261 		JBrowse link
G Edn1 endothelin 1 IEP associated with Diabetes Mellitus, Experimental; protein:increased secretion:serum (rat) RGD PMID:19000375 RGD:2302065 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:111,160,708...111,220,463
Ensembl chr 9:111,160,712...111,220,352 		JBrowse link
G Ephx2 epoxide hydrolase 2 IEP mRNA, protein:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615 		JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:164,740,547...164,762,754
Ensembl chr 2:164,729,749...164,762,745 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976 		JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261 		JBrowse link
G Fbxl22 F-box and leucine-rich repeat protein 22 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:67,069,998...67,076,685
Ensembl chr 8:67,069,998...67,076,685 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
RGD		 PMID:11583900 RGD:1580798 NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr18:15,993,079...16,425,796
Ensembl chr18:15,993,324...16,425,796 		JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:11741828 PMID:16344347 PMID:16368217 PMID:17994539 PMID:18832576 More... NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18414213 PMID:22037554 PMID:25741868 PMID:28492532 NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409 		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 chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Fxn frataxin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15936968 PMID:25741868 NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540 		JBrowse link
G Gaa alpha glucosidase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy		 CTD
ClinVar		 PMID:11328962 PMID:22644586 PMID:25741868 PMID:28492532 NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952 		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 chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More... NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723 		JBrowse link
G Gpr149 G protein-coupled receptor 149 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 2:146,909,710...146,981,924
Ensembl chr 2:146,909,713...146,981,167 		JBrowse link
G Gtpbp3 GTP binding protein 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25434004 PMID:25741868 PMID:30426380 PMID:34276756 PMID:35413567 NCBI chr16:18,175,766...18,180,857
Ensembl chr16:18,175,766...18,180,857 		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 chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639 		JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312 		JBrowse link
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20001863 NCBI chr 1:26,822,131...26,832,218
Ensembl chr 1:26,822,131...26,832,218 		JBrowse link
G Hmox1 heme oxygenase 1 IEP protein:increased activity:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISS MouseDO NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108 		JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle (rat) RGD PMID:20601373 RGD:4145536 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Igf1 insulin-like growth factor 1 severity ISO RGD PMID:12135130 RGD:1598422 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO associated with Diabetes Mellitus;protein:decreased expression:placenta RGD PMID:16750336 RGD:2311505 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8660453 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Irf9 interferon regulatory factor 9 exacerbates
ameliorates		 ISO RGD PMID:24144649 PMID:24144649 RGD:125093743, RGD:125093743 NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236 		JBrowse link
G Jph2 junctophilin 2 disease_progression ISO
IEP		 ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
protein:decreased expression:heart		 ClinVar
RGD		 PMID:9536098 PMID:17476457 PMID:17509612 PMID:17576681 PMID:22584458 More... RGD:1580652, RGD:6480270 NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G Kat8 lysine acetyltransferase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27768893 NCBI chr 1:182,524,355...182,536,638
Ensembl chr 1:182,515,327...182,536,633 		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 chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		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 chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19716085 PMID:22581653 PMID:24033266 PMID:25637381 PMID:25741868 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		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 chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445 		JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518 		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 chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19716085 PMID:22581653 PMID:23396983 PMID:24033266 PMID:24055113 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr11:80,843,621...80,877,649
Ensembl chr11:80,846,755...80,877,636 		JBrowse link
G Klhl41 kelch-like family member 41 ISO RGD PMID:11583900 RGD:1580798 NCBI chr 3:54,434,291...54,447,415
Ensembl chr 3:54,434,234...54,449,222 		JBrowse link
G Lactb lactamase, beta ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:67,571,504...67,587,592
Ensembl chr 8:67,571,500...67,587,539 		JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO
IMP		 ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
in hemizygote mutant male (LAMP2y/-)		 ClinVar
RGD		 PMID:9536098 PMID:15673802 PMID:16199547 PMID:16217705 PMID:17576681 More... RGD:1580822, RGD:13703117, RGD:1580826 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17235623 PMID:17394203 PMID:17438622 PMID:20474083 PMID:23299917 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:2338570 PMID:2753225 PMID:23183350 PMID:23328570 PMID:24033266 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193 		JBrowse link
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593 		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 chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Madd MAP-kinase activating death domain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701 		JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha ISO protein:increased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 treatment ISO protein:increased phosphorylation:heart (human) RGD PMID:27249171 PMID:27249171 RGD:155646134, RGD:155646134 NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974 		JBrowse link
G Mir208a microRNA 208a ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr15:28,425,570...28,425,652 JBrowse link
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749 		JBrowse link
G Mir451a microRNA 451a ISO RNA:decreased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chr10:62,961,520...62,961,591
Ensembl chr10:62,961,520...62,961,591 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:12952838 RGD:1582538 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:plasma RGD PMID:18585501 RGD:5130889 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma RGD PMID:18585501 RGD:5130889 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mtpn myotrophin ISS MouseDO NCBI chr 4:64,159,273...64,186,686
Ensembl chr 4:64,157,641...64,186,724 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO DNA:mutations: :multiple
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:exon:18443A>G (human)		 ClinVar
CTD
RGD		 PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:208208 More... RGD:1580235, RGD:1580233 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Mybphl myosin binding protein H-like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 2:196,005,297...196,018,826
Ensembl chr 2:196,005,325...196,018,824 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000973 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Myh6 myosin heavy chain 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy		 CTD
ClinVar		 PMID:15998695 PMID:20656787 PMID:22011241 PMID:23861362 PMID:24033266 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 treatment
severity		 ISO DNA:missense mutations: :multiple
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
protein:increased expression:heart (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.R719W (human)
DNA:deletion, missense mutations: :multiple		 ClinVar
CTD
RGD		 PMID:177788 PMID:199274 PMID:204029 PMID:319790 PMID:546198 More... RGD:1580926, RGD:155646134, RGD:11065270, RGD:1580929 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Myh7b myosin heavy chain 7B ISO
IMP		 DNA:polymorphism:CDS:multiple (human)
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy		 ClinVar
RGD		 PMID:25741868 PMID:32207065 PMID:32207065 RGD:126925946, RGD:126925946 NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084 		JBrowse link
G Myh7bem1Blar myosin heavy chain 7B; CRISPR/Cas9 induced mutant 1, Blar IMP RGD PMID:32207065 RGD:126925946
G Myl12a myosin light chain 12A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:110,891,970...110,899,655
Ensembl chr 9:110,873,959...110,916,580 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:110,873,855...110,888,187 JBrowse link
G Myl2 myosin light chain 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy		 CTD
ClinVar		 PMID:203862 PMID:08673105 PMID:9527842 PMID:09535554 PMID:9724616 More... NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983 		JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:6211078 PMID:08673105 PMID:9536098 PMID:11174330 PMID:12021217 More... NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
G Myl4 myosin, light chain 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr10:89,449,456...89,485,365
Ensembl chr10:89,449,443...89,485,363 		JBrowse link
G Myl7 myosin light chain 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr14:80,780,684...80,783,259
Ensembl chr14:80,779,776...80,783,244 		JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31513939 NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21256114 PMID:24033266 More... NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:16199547 PMID:17347475 PMID:17434779 PMID:17576681 More... NCBI chr 2:211,141,463...211,168,187
Ensembl chr 2:211,141,463...211,168,221 		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 chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 susceptibility ISO associated with Mitochondrial Encephalomyopathies;DNA:missense mutations: :p.R228Q, p.P229Q, p.S413P (human) RGD PMID:11220739 RGD:1600573 NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420 		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 chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210 		JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19881492 PMID:24033266 PMID:25163546 PMID:25741868 PMID:28008423 More... NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408 		JBrowse link
G Nmnat2 nicotinamide nucleotide adenylyltransferase 2 IEP protein:decreased expression, decreased activity:heart RGD PMID:22449973 RGD:13782043 NCBI chr13:65,105,950...65,277,350
Ensembl chr13:65,105,950...65,278,484 		JBrowse link
G Npm1 nucleophosmin 1 ISO protein:increased expression:cardiomyocyte: RGD PMID:21444791 RGD:11535018 NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645 		JBrowse link
G Nppa natriuretic peptide A treatment IEP
ISO		 protein:decreased expression:cardiomyocyte
mRNA:increased expression:heart (rat)
mRNA:increased expression:heatt (rat)
protein:increased expression:heart (human)		 RGD PMID:25820375 PMID:19889059 PMID:24247421 PMID:27249171 RGD:13792650, RGD:401794453, RGD:401793741, RGD:155646134 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351 		JBrowse link
G Nppb natriuretic peptide B IEP mRNA:increased expression:heatt (rat)
mRNA:increased expression:heart (rat)		 RGD PMID:24247421 PMID:19889059 RGD:401793741, RGD:401794453 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G Pacsin3 protein kinase C and casein kinase substrate in neurons 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:77,227,187...77,235,820
Ensembl chr 3:77,222,710...77,235,811 		JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17254821 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657 		JBrowse link
G Pepd peptidase D ISS MouseDO NCBI chr 1:87,536,650...87,681,233
Ensembl chr 1:87,536,609...87,681,231 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISS MouseDO NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:16567567 PMID:17556197 PMID:19863551 PMID:19955750 PMID:20525856 More... NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		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 chr20:32,629,537...32,639,559 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 chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2536513 PMID:2831920 PMID:2853496 PMID:8381257 PMID:8928979 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Ppp6r1 protein phosphatase 6, regulatory subunit 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:69,190,856...69,217,598
Ensembl chr 1:69,189,822...69,216,272 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
RGD		 PMID:762819 PMID:2526523 PMID:10355918 PMID:10368461 PMID:10820940 More... RGD:1580716 NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142 		JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO
ISS		 ClinVar Annotator: match by term: Hypertrophic cardiomyopathy MouseDO
ClinVar
RGD		 PMID:11992261 PMID:12058348 PMID:12960218 PMID:14644997 PMID:14961557 More... RGD:11072362 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Ptprh protein tyrosine phosphatase, receptor type, H ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:69,243,704...69,276,294
Ensembl chr 1:69,242,321...69,285,077 		JBrowse link
G Rab8b RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:67,458,921...67,536,466
Ensembl chr 8:67,458,923...67,536,384 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17603482 PMID:17603483 NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373 		JBrowse link
G Rassf1 Ras association domain family member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19652091 NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22004663 PMID:24033266 PMID:24503780 PMID:25637381 PMID:25741868 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060 		JBrowse link
G Retn resistin ISO DNA, protein:SNP, increased expression:promoter, serum:-420G>C (rs1862513) (human) RGD PMID:20171599 RGD:7207251 NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620 		JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 8:108,740,176...108,768,177
Ensembl chr 8:108,739,620...108,767,675 		JBrowse link
G Rps27l ribosomal protein S27-like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:67,562,483...67,567,418
Ensembl chr 8:67,562,483...67,567,418 		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 chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:10807545 PMID:15689442 PMID:15851227 PMID:16155735 PMID:17227473 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:79,904,698...79,922,808
Ensembl chr10:79,908,738...79,922,813 		JBrowse link
G Sgcb sarcoglycan, beta ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr14:34,563,614...34,578,614
Ensembl chr14:34,563,608...34,578,583 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
RGD		 PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... RGD:1580619 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733 		JBrowse link
G Slc30a5 solute carrier family 30 member 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:33547425 NCBI chr 2:31,945,745...31,975,969
Ensembl chr 2:31,945,729...31,975,934 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19111554 NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665 		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 chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		JBrowse link
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393 		JBrowse link
G Syt5 synaptotagmin 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:69,277,351...69,285,071
Ensembl chr 1:69,277,351...69,285,067 		JBrowse link
G Tbca tubulin folding cofactor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr 2:26,011,714...26,065,909
Ensembl chr 2:26,011,795...26,065,907 		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 chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:22134166 RGD:11073617 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		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 chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:15056834 RGD:1580653 NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611 		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 chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
G Tmem86b transmembrane protein 86B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:69,218,109...69,220,474
Ensembl chr 1:69,218,608...69,220,124 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31983221 NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727 		JBrowse link
G Tnnc1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
RGD		 PMID:18572189 PMID:19439414 PMID:20459070 PMID:21056975 PMID:22489623 More... RGD:1580739 NCBI chr16:6,400,801...6,405,634
Ensembl chr16:6,402,171...6,405,634 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
RGD		 PMID:3144325 PMID:3349559 PMID:7592712 PMID:9241277 PMID:9536098 More... RGD:1580420 NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:541918 PMID:2003160 PMID:2946667 PMID:7898523 PMID:7981753 More... RGD:1580440 NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000973 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		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 chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
G Traf6 TNF receptor associated factor 6 treatment ISO protein:increased expression:heart (human) RGD PMID:27249171 RGD:155646134 NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507 		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 chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23382873 PMID:25741868 PMID:28492532 NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
RGD		 PMID:9536098 PMID:17344846 PMID:17576681 PMID:18414213 PMID:23396983 More... RGD:1580781 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:7868124 PMID:14640030 PMID:20840742 PMID:24033266 PMID:25741868 More... NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
G Ucn urocortin ISO RGD PMID:14577573 RGD:1580792 NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950 		JBrowse link
G Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480 		JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:67,078,249...67,154,109
Ensembl chr 8:67,079,927...67,154,111 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
RGD		 PMID:16712796 PMID:23299917 PMID:24033266 PMID:24503780 PMID:25741868 More... RGD:1580356 NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
G Xirp1 xin actin-binding repeat containing 1 ISS MouseDO NCBI chr 8:119,744,778...119,757,547
Ensembl chr 8:119,747,419...119,757,349 		JBrowse link
G Yy1 YY1 transcription factor ISO RGD PMID:12754214 RGD:1580831 NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747 		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 chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:9536098 PMID:14567970 PMID:16199547 PMID:17097056 PMID:17576681 More... NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:16199547 PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:28492532 PMID:31395899 PMID:33874732 NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:25741868 PMID:26253506 PMID:28492532 PMID:30025578 PMID:30172029 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		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 chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1
CTD Direct Evidence: marker/mechanism
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
CTD		 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 PMID:11251997 More... NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More... NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: 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 chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:17221859 PMID:18653338 PMID:19151983 PMID:20171226 PMID:20423733 More... NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G 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 chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:7971964 PMID:17033975 PMID:20031616 PMID:20031617 PMID:20197793 More... NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: 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 chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:28492532 NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:26555887 PMID:28492532 PMID:31513939 PMID:32112656 NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: 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 chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More... NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723 		JBrowse link
G Ilk integrin-linked kinase ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:29915097 PMID:33874732 NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: 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 chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:21859740 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27662471 More... NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 More... NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:28492532 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:28492532 PMID:29247119 PMID:30847666 PMID:32746448 NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: 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 chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		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 chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		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 chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myh6 myosin heavy chain 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 CTD
ClinVar		 PMID:7731997 PMID:9172070 PMID:9536098 PMID:11815426 PMID:15998695 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | 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: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | 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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | 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		 OMIM
ClinVar
CTD		 PMID:199274 PMID:204029 PMID:546198 PMID:564455 PMID:737223 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 ClinVar NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084 		JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: 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 chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983 		JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: 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 chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
G Mylk2 myosin light chain kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1
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		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11733062 PMID:17576681 PMID:22995991 PMID:23299917 More... NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:211,141,463...211,168,187
Ensembl chr 2:211,141,463...211,168,221 		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 chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More... NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210 		JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:27486136 PMID:28492532 PMID:28798025 PMID:30531895 More... NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342 		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 chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674 		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 chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: 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 chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: 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 chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:25163546 PMID:25351510 PMID:25741868 PMID:28492532 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:12459180 PMID:19216760 PMID:19926015 PMID:20132818 PMID:22787013 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:8661019 PMID:11823453 PMID:12639704 PMID:15121794 PMID:15689442 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26720722 PMID:28492532 NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840 		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 chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		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 chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735 		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 chr 1:160,095,108...160,096,401
Ensembl chr 1:160,095,108...160,096,376 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: 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 chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:26214305 PMID:28492532 PMID:33552729 NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		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 chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: 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:209262 PMID:541918 PMID:2946667 PMID:7898523 PMID:8205619 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: 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: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:18414213 PMID:18948003 PMID:23396983 PMID:23861362 PMID:23975875 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		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 chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:28492532 NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:20474083 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
hypertrophic cardiomyopathy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:203862 PMID:08673105 PMID:09535554 PMID:9536098 PMID:9673982 More... NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983 		JBrowse link
hypertrophic cardiomyopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:676951 PMID:2255271 PMID:9536098 PMID:9563954 PMID:10330430 More... NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523 		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 chr 3:100,771,450...100,776,134
Ensembl chr 3:100,772,062...100,775,061 		JBrowse link
G Lpcat4 lysophosphatidylcholine acyltransferase 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 ClinVar PMID:18458017 PMID:27125413 PMID:28492532 NCBI chr 3:99,044,729...99,052,963
Ensembl chr 3:99,044,729...99,052,875 		JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 ClinVar PMID:18458017 PMID:27125413 PMID:28492532 NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942 		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 chr 3:99,053,510...99,064,311
Ensembl chr 3:99,053,510...99,064,311 		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 chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258 		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
ISS		 ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12
OMIM:612124
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8994428 PMID:9039266 PMID:9536098 PMID:12507422 PMID:12642359 More... NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653 		JBrowse link
G Igsf22 immunoglobulin superfamily member 22 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:97,601,938...97,618,144 JBrowse link
G Ldha lactate dehydrogenase A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:97,371,823...97,381,247
Ensembl chr 1:97,366,021...97,433,472 		JBrowse link
G Ldhc lactate dehydrogenase C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:97,385,984...97,403,382
Ensembl chr 1:97,382,379...97,403,378 		JBrowse link
G Mrgprb2 MAS-related GPR, member B2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:98,401,140...98,403,162
Ensembl chr 1:98,401,538...98,415,284 		JBrowse link
G Mrgprx2 MAS related GPR family member X2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:98,116,192...98,135,534 JBrowse link
G Ptpn5 protein tyrosine phosphatase, non-receptor type 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:97,620,638...97,681,186
Ensembl chr 1:97,620,642...97,679,882 		JBrowse link
G Spty2d1 SPT2 chromatin protein domain containing 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:97,531,495...97,549,616
Ensembl chr 1:97,531,508...97,549,581 		JBrowse link
G Tmem86a transmembrane protein 86A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:97,595,910...97,600,260
Ensembl chr 1:97,595,842...97,600,260 		JBrowse link
G Tsg101 tumor susceptibility 101 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:97,412,689...97,442,589
Ensembl chr 1:97,410,848...97,442,554 		JBrowse link
G Uevld UEV and lactate/malate dehyrogenase domains ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:97,454,188...97,486,004
Ensembl chr 1:97,453,946...97,486,000 		JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:98,487,319...98,525,906
Ensembl chr 1:98,487,358...98,525,905 		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
ISS		 ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 13 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 13
OMIM:613243
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11385718 PMID:16302972 PMID:17576681 PMID:18042489 More... NCBI chr16:6,400,801...6,405,634
Ensembl chr16:6,402,171...6,405,634 		JBrowse link
hypertrophic cardiomyopathy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 ClinVar PMID:25741868 NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Mir208a microRNA 208a ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 ClinVar PMID:28492532 NCBI chr15:28,425,570...28,425,652 JBrowse link
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 ClinVar PMID:28492532 NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749 		JBrowse link
G Myh6 myosin heavy chain 6 ISO
ISS		 ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14
OMIM:613251
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:7731997 PMID:9172070 PMID:9536098 PMID:11815426 PMID:15735645 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 ClinVar PMID:28492532 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
hypertrophic cardiomyopathy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcl vinculin ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 15 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 15 | ClinVar Annotator: match by term: VCL-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11815424 PMID:16236538 PMID:16712796 PMID:16949038 PMID:17097056 More... NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
hypertrophic cardiomyopathy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 16 | ClinVar Annotator: match by term: MYOZ2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17347475 PMID:17434779 PMID:17576681 PMID:19472918 More... NCBI chr 2:211,141,463...211,168,187
Ensembl chr 2:211,141,463...211,168,221 		JBrowse link
hypertrophic cardiomyopathy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 17 | ClinVar Annotator: match by term: JPH2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17476457 PMID:17509612 PMID:22389502 PMID:22584458 PMID:23757202 More... NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904 		JBrowse link
hypertrophic cardiomyopathy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 18 ClinVar PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16829191 More... NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516 		JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 18
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16829191 More... NCBI chr20:32,629,537...32,639,559 JBrowse link
hypertrophic cardiomyopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnt2 troponin T2, cardiac type ISO
ISS		 OMIM:115195
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 2 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:181617 PMID:209243 PMID:209262 PMID:541918 PMID:936231 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
hypertrophic cardiomyopathy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nexn nexilin (F actin binding protein) ISO
ISS		 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
OMIM:613876
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19881492 PMID:20970104 More... NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342 		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:32481709 More... NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		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 chr10:83,769,014...83,788,966
Ensembl chr10:83,769,001...83,788,966 		JBrowse link
G Cdc6 cell division cycle 6 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr10:83,864,189...83,878,011
Ensembl chr10:83,864,638...83,878,011 		JBrowse link
G Csf3 colony stimulating factor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Grb7 growth factor receptor bound protein 7 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr10:83,443,387...83,453,057
Ensembl chr10:83,444,004...83,453,052 		JBrowse link
G Gsdma gasdermin A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr10:83,614,336...83,639,543
Ensembl chr10:83,627,051...83,639,543 		JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591 		JBrowse link
G Lrrc3c leucine rich repeat containing 3C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr10:83,608,797...83,610,128
Ensembl chr10:83,608,483...83,611,646 		JBrowse link
G Med24 mediator complex subunit 24 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr10:83,664,609...83,702,315
Ensembl chr10:83,664,609...83,690,123 		JBrowse link
G Mien1 migration and invasion enhancer 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr10:83,435,198...83,436,491
Ensembl chr10:83,434,710...83,436,488 		JBrowse link
G Msl1 MSL complex subunit 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr10:83,755,380...83,767,147
Ensembl chr10:83,755,720...83,765,726 		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 chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705 		JBrowse link
G Ormdl3 ORMDL sphingolipid biosynthesis regulator 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr10:83,590,052...83,596,035
Ensembl chr10:83,590,071...83,598,620 		JBrowse link
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628 		JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556 		JBrowse link
G Psmd3 proteasome 26S subunit, non-ATPase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr10:83,643,473...83,655,620
Ensembl chr10:83,643,647...83,655,618 		JBrowse link
G Rapgefl1 Rap guanine nucleotide exchange factor like 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr10:83,793,711...83,810,373
Ensembl chr10:83,793,694...83,810,371 		JBrowse link
G Tcap titin-cap ISO 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
ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10655062 PMID:12507422 PMID:15582318 PMID:16352453 More... NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887 		JBrowse link
G Thra thyroid hormone receptor alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr10:83,701,885...83,729,408
Ensembl chr10:83,700,755...83,729,936 		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 chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1N | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:3144325 PMID:3349559 PMID:9241277 PMID:10806205 PMID:11735257 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Wipf2 WAS/WASL interacting protein family, member 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr10:83,821,067...83,861,634
Ensembl chr10:83,821,068...83,857,028 		JBrowse link
G Zpbp2 zona pellucida binding protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr10:83,558,772...83,567,511
Ensembl chr10:83,559,016...83,567,508 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15929027 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 ClinVar PMID:10722117 PMID:11939509 PMID:24115288 PMID:25741868 NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012 		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 chr 1:135,014,455...135,062,294
Ensembl chr 1:135,014,499...135,062,302 		JBrowse link
Hypertrophic Cardiomyopathy 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 28 | ClinVar Annotator: match by term: FHOD3-related condition OMIM
ClinVar		 PMID:24088304 PMID:25741868 PMID:28492532 PMID:30442288 PMID:30898215 More... NCBI chr18:15,993,079...16,425,796
Ensembl chr18:15,993,324...16,425,796 		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 chr11:80,843,621...80,877,649
Ensembl chr11:80,846,755...80,877,636 		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
ISS		 OMIM:115196
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 3
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
hypertrophic cardiomyopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar PMID:25741868 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344 		JBrowse link
G Madd MAP-kinase activating death domain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO
ISS		 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:115197
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:747929 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar PMID:23233322 PMID:24111713 PMID:25741868 PMID:28492532 PMID:34460321 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar PMID:12507422 PMID:15582318 PMID:28492532 NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7657794 PMID:10355918 PMID:10820940 PMID:11371514 PMID:11407343 More... NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142 		JBrowse link
hypertrophic cardiomyopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344 		JBrowse link
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 ClinVar PMID:30442288 NCBI chr18:15,993,079...16,425,796
Ensembl chr18:15,993,324...16,425,796 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO
ISS		 OMIM:613690
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 7 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10731705 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721 		JBrowse link
hypertrophic cardiomyopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 8 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 8
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6211078 PMID:08673105 PMID:9536098 PMID:11174330 PMID:12021217 More... NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
hypertrophic cardiomyopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 ClinVar PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 ClinVar PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10462489 PMID:11310621 PMID:16084088 PMID:17344846 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		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 OMIM
ClinVar		 PMID:32181500 PMID:32905580 NCBI chr10:38,567,728...38,650,824
Ensembl chr10:38,567,729...38,650,824 		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 chr10:38,655,854...38,824,227
Ensembl chr10:38,655,867...38,823,211 		JBrowse link
infantile histiocytoid cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam135a family with sequence similarity 135, member A ISO ClinVar Annotator: match by term: Foamy myocardial transformation of infancy ClinVar NCBI chr 9:26,420,116...26,500,803
Ensembl chr 9:26,420,528...26,500,717 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Foamy myocardial transformation of infancy ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Foamy myocardial transformation of infancy ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Foamy myocardial transformation of infancy ClinVar PMID:10960495 NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278 		JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Foamy myocardial transformation of infancy ClinVar PMID:25741868 PMID:25772934 NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062 		JBrowse link
infantile hypertrophic cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
Jervell And Lange-Nielsen Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 2		 OMIM
CTD
ClinVar		 PMID:1939241 PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 More... NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
Jervell-Lange Nielsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO
ISS		 OMIM:220400 | OMIM:612347
ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome
DNA:mutation:splice junction:G477+1A(human)
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
RGD		 PMID:9328483 PMID:9354783 PMID:9354802 PMID:9445165 PMID:10400998 More... RGD:1580499, RGD:12910698 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO
ISS		 ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 | ClinVar Annotator: match by term: Jervell-Lange Nielsen syndrome | ClinVar Annotator: match by term: Surdo-cardiac syndrome
OMIM:220400 | OMIM:612347
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:234515 PMID:1346223 PMID:1467812 PMID:1984130 PMID:2294929 More... RGD:1580508 NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
left ventricular noncompaction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:21353195 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28254189 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISS OMIM:604169 MouseDO NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 PMID:28492532 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:23861362 PMID:25145518 PMID:25145519 PMID:25642760 PMID:25741868 More... NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:19318026 PMID:21846512 PMID:22224630 PMID:22266370 PMID:22464770 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:14563344 PMID:15519027 PMID:16061003 PMID:16352453 PMID:17560888 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:32492895 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:2136805 PMID:3203908 PMID:7883988 PMID:7909436 PMID:8614836 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:21636032 PMID:22214898 PMID:23299917 PMID:24033266 PMID:25741868 More... NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Prdm16 PR/SET domain 16 ISS OMIM:604169 MouseDO NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:18752142 PMID:19926015 PMID:23022705 PMID:24025405 PMID:24033266 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Slc39a8 solute carrier family 39 member 8 ISS OMIM:604169 MouseDO NCBI chr 2:224,171,787...224,319,326
Ensembl chr 2:224,256,654...224,319,129 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:22958901 PMID:24033266 PMID:25741868 PMID:33500567 PMID:34691145 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:22958901 PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532 More... NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISS OMIM:604169 MouseDO NCBI chr10:60,584,665...60,622,352
Ensembl chr10:60,584,652...60,671,589 		JBrowse link
Left Ventricular Noncompaction 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: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS ClinVar PMID:25741868 PMID:28416588 PMID:28492532 PMID:28798025 PMID:30471092 More... NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Left ventricular noncompaction 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11238270 PMID:16199547 PMID:17576681 PMID:21520333 More... NCBI chr18:14,687,193...14,944,232
Ensembl chr18:14,587,852...14,944,261 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS ClinVar PMID:203962 PMID:7493025 PMID:11499718 PMID:12202917 PMID:15519027 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:24120998 PMID:25741868 PMID:27483260 PMID:27789736 PMID:28492532 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
Left Ventricular Noncompaction 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttn titin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 2 ClinVar PMID:22335739 PMID:23975875 PMID:25589632 PMID:25741868 PMID:26701604 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
Left Ventricular Noncompaction 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Left ventricular noncompaction 7 | ClinVar Annotator: match by term: MIB1-related condition		 OMIM
CTD
ClinVar		 PMID:23314057 PMID:25741868 PMID:26188975 PMID:28492532 PMID:28530678 More... NCBI chr18:1,802,519...1,926,988
Ensembl chr18:1,802,519...1,920,689 		JBrowse link
long QT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb8 ATP binding cassette subfamily B member 8 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,766,206...10,783,598
Ensembl chr 4:10,768,281...10,783,589 		JBrowse link
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Prolonged QT interval ClinVar NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Abcf1 ATP binding cassette subfamily F member 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:2,802,519...2,815,433
Ensembl chr20:2,802,488...2,815,433 		JBrowse link
G Abcf2 ATP binding cassette subfamily F member 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,594,802...10,607,620
Ensembl chr 4:10,594,907...10,607,606 		JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675 		JBrowse link
G Actl10 actin-like 10 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,057,061...143,058,561
Ensembl chr 3:143,057,402...143,058,442 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:27532257 PMID:28492532 PMID:29247119 PMID:31983221 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Agap3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,674,746...10,724,848
Ensembl chr 4:10,674,064...10,725,244 		JBrowse link
G Ahcy adenosylhomocysteinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Akap8 A-kinase anchoring protein 8 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:11,316,224...11,332,523
Ensembl chr 7:11,316,228...11,332,399 		JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18093912 PMID:22378279 More... NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
G Ank2 ankyrin 2 susceptibility ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated		 ClinVar
RGD		 PMID:7485162 PMID:9536098 PMID:11334825 PMID:12571597 PMID:15075330 More... RGD:734572 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781 		JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919 		JBrowse link
G Ankrd31 ankyrin repeat domain 31 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:28,079,187...28,241,722
Ensembl chr 2:28,092,882...28,241,719 		JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr 4:77,812,260...77,831,846
Ensembl chr 4:77,812,260...77,831,840 		JBrowse link
G Arhgap22 Rho GTPase activating protein 22 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr16:8,473,806...8,631,552
Ensembl chr16:8,476,306...8,631,548 		JBrowse link
G Arl13b ADP-ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 PMID:28492532 NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197 		JBrowse link
G Arpc4 actin related protein 2/3 complex, subunit 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,522,255...146,532,784
Ensembl chr 4:146,522,176...146,532,785 		JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805 		JBrowse link
G Asb10 ankyrin repeat and SOCS box-containing 10 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,630,318...10,644,270
Ensembl chr 4:10,630,448...10,639,060 		JBrowse link
G Asic3 acid sensing ion channel subunit 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,760,509...10,764,987
Ensembl chr 4:10,760,597...10,764,643 		JBrowse link
G Asip agouti signaling protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171 		JBrowse link
G Atg9b autophagy related 9B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,784,934...10,793,832
Ensembl chr 4:10,786,114...10,793,651 		JBrowse link
G Atl3 atlastin GTPase 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:204,680,958...204,727,360
Ensembl chr 1:204,680,968...204,723,354 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25617006 PMID:26512958 PMID:28492532 NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
G Baiap3 BAI1-associated protein 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:14,260,269...14,273,019
Ensembl chr10:14,260,269...14,273,019 		JBrowse link
G Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,456,325...146,472,781
Ensembl chr 4:146,456,318...146,472,649 		JBrowse link
G C3h20orf144 similar to human chromosome 20 open reading frame 144 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,053,971...143,055,327
Ensembl chr 3:143,054,001...143,055,323 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated
ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval		 ClinVar PMID:2547171 PMID:9536098 PMID:12166659 PMID:15454078 PMID:15863612 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318 		JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr 4:18,950,611...19,374,969
Ensembl chr 4:18,951,002...19,374,969 		JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:152,408,588...152,521,478
Ensembl chr 4:152,408,657...152,521,268 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:20817017 PMID:22840528 PMID:23414114 PMID:23861362 PMID:24033266 More... NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106 		JBrowse link
G Calm2 calmodulin 2 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated ClinVar PMID:9536098 PMID:11569915 PMID:17576681 PMID:23388215 PMID:24917665 More... NCBI chr 6:7,091,624...7,104,284
Ensembl chr 6:7,091,567...7,104,287
Ensembl chr15:7,091,567...7,104,287 		JBrowse link
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Congenital long QT syndrome ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 1:77,590,668...77,597,776
Ensembl chr 1:77,589,230...77,592,207 		JBrowse link
G Camk1 calcium/calmodulin-dependent protein kinase I ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,481,196...146,492,039
Ensembl chr 4:146,481,196...146,492,081 		JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:12386154 PMID:20301466 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:1146501 PMID:09536092 PMID:9536098 PMID:9537420 PMID:10227634 More... NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Cbfa2t2 CBFA2/RUNX1 partner transcriptional co-repressor 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:142,936,945...143,043,205
Ensembl chr 3:142,936,985...143,043,197 		JBrowse link
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:86,094,000...86,101,022
Ensembl chr 7:86,094,000...86,101,019 		JBrowse link
G Cd276 Cd276 molecule ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:58,937,751...58,968,082
Ensembl chr 8:58,937,751...58,968,380 		JBrowse link
G Cdk5 cyclin-dependent kinase 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112 		JBrowse link
G Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164 		JBrowse link
G Chmp4b charged multivesicular body protein 4B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,170,859...143,211,376
Ensembl chr 3:143,170,902...143,210,844 		JBrowse link
G Chpf2 chondroitin polymerizing factor 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,578,470...10,585,940
Ensembl chr 4:10,580,462...10,585,916 		JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173 		JBrowse link
G Cit citron rho-interacting serine/threonine kinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860 		JBrowse link
G Cpne9 copine family member 9 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,429,961...146,454,335
Ensembl chr 4:146,430,792...146,454,333 		JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499 		JBrowse link
G Crygn crystallin, gamma N ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,394,015...10,401,542
Ensembl chr 4:10,394,020...10,401,543 		JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28790153 NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653 		JBrowse link
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28416588 PMID:28492532 NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978 		JBrowse link
G Ctrl chymotrypsin-like ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:33,827,279...33,829,129
Ensembl chr19:33,827,229...33,833,626 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26988683 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp51 cytochrome P450, family 51 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410 		JBrowse link
G Dcp1b decapping mRNA 1B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:152,358,267...152,395,747
Ensembl chr 4:152,358,241...152,397,145 		JBrowse link
G Dip2a disco-interacting protein 2 homolog A ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:12,284,566...12,371,068
Ensembl chr20:12,284,654...12,370,217 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:18583217 PMID:24033266 PMID:24690944 PMID:25741868 PMID:26467025 More... NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:24832006 PMID:25741868 PMID:28492532 PMID:31397097 More... NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval		 ClinVar PMID:9536098 PMID:16467215 PMID:16774985 PMID:17576681 PMID:18382419 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Dynlrb1 dynein light chain roadblock-type 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,742,427...143,764,227
Ensembl chr 3:143,742,586...143,764,227 		JBrowse link
G E2f1 E2F transcription factor 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361 		JBrowse link
G Edem2 ER degradation enhancing alpha-mannosidase like protein 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:144,201,604...144,227,423
Ensembl chr 3:144,201,605...144,227,485 		JBrowse link
G Eif2s2 eukaryotic translation initiation factor 2 subunit beta ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,374,652...143,395,460
Ensembl chr 3:143,373,686...143,395,432 		JBrowse link
G Elmod2 ELMO domain containing 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:24,786,166...24,805,626
Ensembl chr19:24,786,241...24,805,130 		JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447 		JBrowse link
G Fastk Fas-activated serine/threonine kinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,732,273...10,736,332
Ensembl chr 4:10,732,256...10,737,430 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Fsip2 fibrous sheath-interacting protein 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 3:67,962,345...68,032,866
Ensembl chr 3:67,962,360...68,032,868 		JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G Galnt11 polypeptide N-acetylgalactosaminyltransferase 11 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:9,837,629...9,871,141
Ensembl chr 4:9,837,629...9,871,140 		JBrowse link
G Galntl5 polypeptide N-acetylgalactosaminyltransferase-like 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:9,873,426...9,923,297
Ensembl chr 4:9,873,428...9,923,136 		JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107 		JBrowse link
G Gbx1 gastrulation brain homeobox 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,645,957...10,672,486
Ensembl chr 4:10,645,957...10,672,486 		JBrowse link
G Ggt7 gamma-glutamyltransferase 7 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,978,073...144,004,597
Ensembl chr 3:143,978,082...144,001,492 		JBrowse link
G Gimap1 GTPase, IMAP family member 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr 4:77,687,581...77,691,468
Ensembl chr 4:77,682,171...77,691,866 		JBrowse link
G Gimap4 GTPase, IMAP family member 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr 4:77,636,401...77,643,315
Ensembl chr 4:77,636,401...77,643,306 		JBrowse link
G Gimap5 GTPase, IMAP family member 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr 4:77,693,417...77,701,025
Ensembl chr 4:77,687,564...77,703,086 		JBrowse link
G Gimap6 GTPase, IMAP family member 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr 4:77,653,703...77,659,112
Ensembl chr 4:77,652,610...77,659,116 		JBrowse link
G Gimap7 GTPase, IMAP family member 7 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr 4:77,670,522...77,674,692
Ensembl chr 4:77,670,367...77,675,272 		JBrowse link
G Gimap8 GTPase, IMAP family member 8 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr 4:77,600,104...77,611,593
Ensembl chr 4:77,600,186...77,611,590 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979 		JBrowse link
G Gpatch2 G patch domain containing 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr13:98,784,993...98,925,696
Ensembl chr13:98,784,969...98,925,661 		JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:11839626 PMID:15140536 PMID:17967976 PMID:17967977 PMID:19606473 More... NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723 		JBrowse link
G Gss glutathione synthetase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198 		JBrowse link
G Guf1 GTP binding elongation factor GUF1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr14:38,537,953...38,557,331
Ensembl chr14:38,537,953...38,557,331 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639 		JBrowse link
G Hk3 hexokinase 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:9,596,950...9,614,847
Ensembl chr17:9,599,865...9,614,863 		JBrowse link
G Hkdc1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:30,335,322...30,373,792
Ensembl chr20:30,335,628...30,373,867 		JBrowse link
G Hnrnpm heterogeneous nuclear ribonucleoprotein M ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:14,438,703...14,476,781
Ensembl chr 7:14,438,688...14,476,762 		JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442 		JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,604,547...146,618,206
Ensembl chr 4:146,605,526...146,618,206 		JBrowse link
G Ilk integrin-linked kinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140 		JBrowse link
G Ints8 integrator complex subunit 8 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:24,295,542...24,344,642
Ensembl chr 5:24,297,191...24,344,740 		JBrowse link
G Itch itchy E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,642,348...143,733,745
Ensembl chr 3:143,645,637...143,733,543 		JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24728327 PMID:25741868 PMID:26132555 PMID:28492532 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 susceptibility ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome
DNA:polymorphism:cds:p.D85N(human)
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1939241 PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 More... RGD:1580499, RGD:11072353, RGD:1580502 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated
ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:10219239 PMID:10220144 PMID:10984545 PMID:11468227 PMID:12185453 More... RGD:1580502 NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:255267 PMID:260666 PMID:543451 PMID:680268 PMID:805146 More... RGD:1580502 NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:11371347 PMID:11841151 PMID:11861044 PMID:12045162 PMID:12086641 More... NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445 		JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated ClinVar PMID:9536098 PMID:11278615 PMID:17576681 PMID:17967416 PMID:20560207 More... NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518 		JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO ClinVar Annotator: match by term: Congenital long QT syndrome ClinVar PMID:25741868 PMID:25998140 PMID:28492532 PMID:28750076 NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 severity ISO
IAGP		 ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
DNA:deletion:exon (rat)
CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype:3' utr:rs2519184, rs8234, rs10798 (human)		 ClinVar
CTD
RGD		 PMID:234416 PMID:234478 PMID:234493 PMID:234515 PMID:234518 More... RGD:1580502, RGD:1581602, RGD:7247613 NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Kcnq1dfk potassium voltage-gated channel subfamily Q member 1;deafness Kyoto IAGP RGD PMID:16368876 RGD:1581602
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:235,124,371...235,176,760
Ensembl chr 1:235,124,316...235,176,766 		JBrowse link
G Kif21b kinesin family member 21B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr13:47,576,129...47,626,112
Ensembl chr13:47,576,160...47,626,127 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539 		JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Lhfpl4 LHFPL tetraspan subfamily member 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,317,110...146,340,073
Ensembl chr 4:146,313,541...146,340,463 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10580070 PMID:11102973 PMID:12920062 PMID:17334235 PMID:18414213 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724 		JBrowse link
G Lrrc8e leucine rich repeat containing 8 VRAC subunit E ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr12:2,578,240...2,589,407
Ensembl chr12:2,578,315...2,589,412 		JBrowse link
G Lrrd1 leucine-rich repeats and death domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:30,263,147...30,293,119
Ensembl chr 4:30,264,862...30,293,173 		JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670 		JBrowse link
G Mdn1 midasin AAA ATPase 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:47,055,435...47,190,426
Ensembl chr 5:47,055,447...47,186,332 		JBrowse link
G Mir499a microRNA 499a ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:144,110,469...144,110,533
Ensembl chr 3:144,110,469...144,110,533 		JBrowse link
G Mir671 microRNA 671 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,580,747...10,580,827
Ensembl chr 4:10,580,738...10,580,835 		JBrowse link
G Mki67 marker of proliferation Ki-67 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762 		JBrowse link
G Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,386,949...146,429,990
Ensembl chr 4:146,386,956...146,429,990 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval		 ClinVar PMID:208206 PMID:16335287 PMID:16715312 PMID:18533079 PMID:18957093 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Mybphl myosin binding protein H-like ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:196,005,297...196,018,826
Ensembl chr 2:196,005,325...196,018,824 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:23861362 PMID:24033266 PMID:25351510 PMID:25741868 PMID:26383259 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval		 ClinVar PMID:23283745 PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084 		JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:11174330 PMID:20641121 PMID:21239446 PMID:22131351 PMID:23426552 More... NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728 		JBrowse link
G Mylk4 myosin light chain kinase family, member 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:31,669,028...31,747,250
Ensembl chr17:31,661,513...31,744,544 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
G Ncoa6 nuclear receptor coactivator 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,890,896...143,961,916
Ensembl chr 3:143,890,896...143,952,268 		JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More... NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210 		JBrowse link
G Net1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:66,341,251...66,370,445
Ensembl chr17:66,340,728...66,370,441 		JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:33500567 NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 More... NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484 		JBrowse link
G Nos1ap nitric oxide synthase 1 adaptor protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr13:82,547,799...82,820,999
Ensembl chr13:82,530,577...82,820,949 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326 		JBrowse link
G Nrip1 nuclear receptor interacting protein 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr11:14,895,843...14,979,490
Ensembl chr11:14,895,553...14,981,761 		JBrowse link
G Nub1 negative regulator of ubiquitin-like proteins 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,442,917...10,473,689
Ensembl chr 4:10,442,917...10,473,694 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:1146501 PMID:09536092 PMID:9536098 PMID:9537420 PMID:10227634 More... NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
G Pigu phosphatidylinositol glycan anchor biosynthesis, class U ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,784,831...143,881,268
Ensembl chr 3:143,784,832...143,880,807 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043 		JBrowse link
G Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:45,049,713...45,136,503
Ensembl chr19:45,049,719...45,135,532 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16567567 PMID:17521752 PMID:18662195 PMID:19533476 PMID:19569224 More... NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Plcb4 phospholipase C, beta 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392 		JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19931775 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142 		JBrowse link
G Procr protein C receptor ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:144,254,596...144,258,863
Ensembl chr 3:144,254,380...144,258,903 		JBrowse link
G Prokr1 prokineticin receptor 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:120,022,301...120,033,367
Ensembl chr 4:120,021,747...120,033,379 		JBrowse link
G Prss12 serine protease 12 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:211,624,134...211,684,126
Ensembl chr 2:211,624,134...211,684,126 		JBrowse link
G Prss57 serine protease 57 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:9,915,667...9,922,996
Ensembl chr 7:9,917,484...9,922,922 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:21097842 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Ptov1 PTOV1, extended AT-hook containing adaptor protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:95,347,065...95,354,514
Ensembl chr 1:95,347,068...95,353,613 		JBrowse link
G Pxmp4 peroxisomal membrane protein 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,093,371...143,110,620
Ensembl chr 3:143,093,018...143,110,651 		JBrowse link
G Rad18 RAD18 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:145,735,654...145,821,102
Ensembl chr 4:145,735,654...145,821,069 		JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378 		JBrowse link
G Raly RALY heterogeneous nuclear ribonucleoprotein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,306,039...143,370,542
Ensembl chr 3:143,306,300...143,370,539 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:22004663 PMID:23396983 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060 		JBrowse link
G Rem1 RRAD and GEM like GTPase 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 3:141,103,722...141,112,206
Ensembl chr 3:141,103,766...141,112,203 		JBrowse link
G Repin1 replication initiator 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr 4:77,548,724...77,554,242
Ensembl chr 4:77,548,849...77,554,257 		JBrowse link
G Rheb Ras homolog, mTORC1 binding ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,278,970...10,320,160
Ensembl chr 4:10,279,370...10,320,160 		JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:24,696,959...25,196,404
Ensembl chr 9:24,698,854...25,196,631 		JBrowse link
G Rnf207 ring finger protein 207 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 NCBI chr 5:162,815,351...162,828,325
Ensembl chr 5:162,815,357...162,828,375 		JBrowse link
G Rpusd3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,553,743...146,562,789
Ensembl chr 4:146,558,562...146,562,794 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:26994242 PMID:28003660 PMID:28492532 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome		 ClinVar PMID:11159936 PMID:15364606 PMID:15364613 PMID:16239587 PMID:16272262 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:15671291 PMID:19522081 PMID:21994374 PMID:22155597 PMID:22155598 More... NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 PMID:37578743 NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:539905 PMID:617273 PMID:1097384 PMID:2437023 PMID:7651517 More... RGD:1580502 NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Sdc1 syndecan 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894 		JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:120,568,707...120,630,796
Ensembl chr 7:120,570,402...120,630,374 		JBrowse link
G Sidt1 SID1 transmembrane family, member 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr11:56,362,788...56,459,939
Ensembl chr11:56,363,512...56,459,050 		JBrowse link
G Sirt6 sirtuin 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914 		JBrowse link
G Slc2a5 solute carrier family 2 member 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:160,583,055...160,609,994
Ensembl chr 5:160,583,234...160,611,106 		JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965 		JBrowse link
G Slc6a17 solute carrier family 6 member 17 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:195,107,434...195,155,697
Ensembl chr 2:195,107,438...195,155,697 		JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr16:1,667,205...1,785,200
Ensembl chr16:1,667,208...1,785,149 		JBrowse link
G Smarcd3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,548,693...10,580,334
Ensembl chr 4:10,548,751...10,580,326 		JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25640679 PMID:28492532 NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002 		JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518 		JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964 		JBrowse link
G Snd1 staphylococcal nuclease and tudor domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:57,095,205...57,494,501
Ensembl chr 4:57,095,208...57,530,843 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO DNA:missense mutation:275A>G (human)
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval		 ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18591664 PMID:19684871 More... RGD:6771370 NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709 		JBrowse link
G Srgap3 SLIT-ROBO Rho GTPase activating protein 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:145,839,369...146,070,556
Ensembl chr 4:145,840,078...146,070,575 		JBrowse link
G Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:9536098 PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 More... NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735 		JBrowse link
G Stk32b serine/threonine kinase 32B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr14:73,077,944...73,337,976
Ensembl chr14:73,078,061...73,336,458 		JBrowse link
G Syk spleen associated tyrosine kinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410 		JBrowse link
G Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,510,213...146,521,975
Ensembl chr 4:146,510,246...146,521,590 		JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 1:160,095,108...160,096,401
Ensembl chr 1:160,095,108...160,096,376 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26636822 More... NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887 		JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:239,415,203...239,425,272 		JBrowse link
G Tdrd6 tudor domain containing 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:17,344,033...17,359,348
Ensembl chr 9:17,344,026...17,359,344 		JBrowse link
G Tecrl trans-2,3-enoyl-CoA reductase-like ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:27861123 PMID:30790670 NCBI chr14:24,732,241...24,805,272
Ensembl chr14:24,732,241...24,805,272 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		JBrowse link
G Tgfbrap1 transforming growth factor, beta receptor associated protein 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:45,320,975...45,371,329
Ensembl chr 9:45,320,930...45,371,311 		JBrowse link
G Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,185,422...146,209,802
Ensembl chr 4:146,185,503...146,211,246 		JBrowse link
G Tlnrd1 talin rod domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:137,864,340...137,866,359
Ensembl chr 1:137,864,343...137,866,359 		JBrowse link
G Tmem176a transmembrane protein 176A ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr 4:77,774,940...77,778,620
Ensembl chr 4:77,774,843...77,778,620 		JBrowse link
G Tmem176b transmembrane protein 176B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr 4:77,766,928...77,774,740
Ensembl chr 4:77,766,928...77,774,384 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25343256 PMID:25741868 PMID:28492532 NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727 		JBrowse link
G Tmub1 transmembrane and ubiquitin-like domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,729,494...10,732,060
Ensembl chr 4:10,729,250...10,732,060 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:22464770 PMID:24033266 PMID:24503780 PMID:25524337 PMID:25741868 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Top2a DNA topoisomerase II alpha ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874 		JBrowse link
G Tp53inp2 tumor protein p53 inducible nuclear protein 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,881,427...143,890,104
Ensembl chr 3:143,882,021...143,890,097 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:24033266 PMID:25741868 NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
G Trhde thyrotropin-releasing hormone degrading enzyme ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:49,943,271...50,350,613
Ensembl chr 7:49,945,766...50,367,371 		JBrowse link
G Trmu tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:116,969,750...116,987,704
Ensembl chr 7:116,969,756...116,986,355 		JBrowse link
G Trpc4ap transient receptor potential cation channel, subfamily C, member 4 associated protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:144,122,003...144,192,986
Ensembl chr 3:144,122,003...144,192,986 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:21887725 PMID:23382873 PMID:25416190 PMID:25741868 PMID:26046366 More... NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
G Ttll3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,532,958...146,558,425
Ensembl chr 4:146,533,953...146,557,889 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:17344846 PMID:23861362 PMID:24033266 PMID:25145518 PMID:25741868 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:151,635,825...151,743,931
Ensembl chr 5:151,635,868...151,743,784 		JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:69,115,216...69,224,843
Ensembl chr 7:69,116,761...69,224,903 		JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477 		JBrowse link
G Upp1 uridine phosphorylase 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr14:83,809,495...83,829,299
Ensembl chr14:83,809,960...83,829,462 		JBrowse link
G Usp19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:109,190,727...109,201,761
Ensembl chr 8:109,190,724...109,201,741 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
G Vsx1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869 		JBrowse link
G Wdr25 WD repeat domain 25 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:127,807,347...127,939,795
Ensembl chr 6:127,807,421...127,938,929 		JBrowse link
G Wdr26 WD repeat domain 26 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr13:92,930,282...92,972,061
Ensembl chr13:92,930,285...92,977,295 		JBrowse link
G Wdr86 WD repeat domain 86 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,423,496...10,443,473
Ensembl chr 4:10,424,008...10,441,465 		JBrowse link
G Wwc2 WW and C2 domain containing 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr16:44,258,372...44,421,815
Ensembl chr16:44,258,372...44,421,812 		JBrowse link
G Xrcc2 X-ray repair cross complementing 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:9,423,873...9,502,980
Ensembl chr 4:9,423,898...9,442,482 		JBrowse link
G Yme1l1 YME1-like 1 ATPase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:85,287,607...85,326,068
Ensembl chr17:85,287,554...85,326,335 		JBrowse link
G Zfp174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:11,666,580...11,676,328
Ensembl chr10:11,669,913...11,676,312 		JBrowse link
G Zfp341 zinc finger protein 341 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 PMID:28492532 NCBI chr 3:143,122,699...143,156,250
Ensembl chr 3:143,119,093...143,156,249 		JBrowse link
G Zfp775 zinc finger protein 775 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr 4:77,557,037...77,575,296
Ensembl chr 4:77,548,847...77,575,296 		JBrowse link
G Zfp862 zinc finger protein 862 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:77,452,930...77,481,981
Ensembl chr 4:77,453,037...77,481,995 		JBrowse link
long QT syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:23861362 PMID:24033266 PMID:24123366 PMID:25467552 PMID:25649125 More... NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:7485162 PMID:12571597 PMID:15178757 PMID:16253912 PMID:16650839 More... NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:15454078 PMID:15863612 PMID:16360093 PMID:17224476 PMID:18250309 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Calm2 calmodulin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval		 ClinVar PMID:9536098 PMID:11569915 PMID:17576681 PMID:23388215 PMID:24076290 More... NCBI chr 6:7,091,624...7,104,284
Ensembl chr 6:7,091,567...7,104,287
Ensembl chr15:7,091,567...7,104,287 		JBrowse link
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval		 ClinVar PMID:9536098 PMID:11569915 PMID:17576681 PMID:23388215 PMID:24563457 More... NCBI chr 1:77,590,668...77,597,776
Ensembl chr 1:77,589,230...77,592,207 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:14672715 PMID:15318349 More... NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Dact3 dishevelled-binding antagonist of beta-catenin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:77,546,900...77,558,631
Ensembl chr 1:77,546,900...77,558,630 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:19095136 PMID:19279339 PMID:20716751 PMID:21606390 PMID:21606396 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Gng8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:77,564,512...77,568,371
Ensembl chr 1:77,564,515...77,568,371 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 PMID:9354802 More... NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:10219239 PMID:10220144 PMID:10984545 PMID:14760488 PMID:15368194 More... NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:260666 PMID:1100946 PMID:1813917 PMID:2581653 PMID:7889573 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:11371347 PMID:11841151 PMID:11861044 PMID:12086641 PMID:12148092 More... NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445 		JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISS
ISO		 OMIM:192500
ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Long QT syndrome 1, recessive | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval		 MouseDO
OMIM
ClinVar		 PMID:234416 PMID:234478 PMID:234515 PMID:280141 PMID:737968 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G Prkd2 protein kinase D2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:77,513,625...77,542,386
Ensembl chr 1:77,513,986...77,542,376 		JBrowse link
G Ptgir prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:77,579,596...77,581,979
Ensembl chr 1:77,579,596...77,581,979 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:539905 PMID:617273 PMID:1097384 PMID:2437023 PMID:7889574 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:19684871 PMID:20009079 PMID:22584458 PMID:23834499 PMID:23861362 More... NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709 		JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:77,482,267...77,511,862
Ensembl chr 1:77,482,094...77,511,858 		JBrowse link
Long QT Syndrome 1/2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1/2, digenic ClinVar PMID:10086971 PMID:10973849 PMID:16199547 PMID:16922724 PMID:19862833 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Long QT syndrome 1/2, digenic ClinVar PMID:8528244 PMID:10086971 PMID:10376919 PMID:10973849 PMID:12702160 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
long QT syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881 		JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247 		JBrowse link
G Atp5mg ATP synthase membrane subunit G ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,225,680...45,233,630
Ensembl chr 8:45,225,686...45,233,559 		JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611 		JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340 		JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809 		JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022 		JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147 		JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837 		JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087 		JBrowse link
G Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338 		JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880 		JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239 		JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186 		JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052 		JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298 		JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662 		JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484 		JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522 		JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271 		JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765 		JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Long QT syndrome 10		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17592081 PMID:20226894 More... NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389 		JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491 		JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540 		JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,112,737...45,116,345 JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038 		JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190 		JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:44,684,127...44,698,568 		JBrowse link
long QT syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: AKAP9-related condition | ClinVar Annotator: match by term: Long QT syndrome 11
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18093912 PMID:22378279 PMID:23174487 More... NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
long QT syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Long QT syndrome 12
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18591664 PMID:19684871 PMID:20009079 More... NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709 		JBrowse link
long QT syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Long QT syndrome 13
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20560207 PMID:24574546 PMID:25417227 PMID:25741868 PMID:26350513 More... NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518 		JBrowse link
long QT syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Long QT syndrome 14
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:23040497 PMID:23388215 PMID:24076290 More... NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227 		JBrowse link
long QT syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calm2 calmodulin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Long QT syndrome 15		 OMIM
CTD
ClinVar		 PMID:11569915 PMID:23388215 PMID:24917665 PMID:25741868 PMID:26164367 More... NCBI chr 6:7,091,624...7,104,284
Ensembl chr 6:7,091,567...7,104,287
Ensembl chr15:7,091,567...7,104,287 		JBrowse link
long QT syndrome 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 16 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25460178 PMID:25741868 PMID:28492532 More... NCBI chr 1:77,590,668...77,597,776
Ensembl chr 1:77,589,230...77,592,207 		JBrowse link
long QT syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:23861362 PMID:28492532 NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
G Alg10 ALG10, alpha-1,2-glucosyltransferase ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:15280551 NCBI chr 7:121,335,048...121,345,517
Ensembl chr 7:121,335,042...121,340,308 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:12571597 PMID:15178757 PMID:17242276 PMID:25741868 PMID:26230511 More... NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to | ClinVar Annotator: match by term: Long QT syndrome, bradycardia-induced
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:255267 PMID:260666 PMID:543451 PMID:680268 PMID:805146 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:9536098 PMID:9570196 PMID:9654228 PMID:10477533 PMID:10973849 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:18378609 PMID:21321465 PMID:22581653 PMID:22685113 PMID:25741868 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709 		JBrowse link
Long QT Syndrome 2/3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2/3, digenic ClinVar PMID:16922724 PMID:22581653 PMID:25417810 NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Long QT syndrome 2/3, digenic ClinVar PMID:16922724 PMID:22581653 PMID:22685113 PMID:23396983 PMID:23861362 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
Long QT Syndrome 2/5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Long QT syndrome 2/5, digenic ClinVar PMID:8899564 PMID:9445165 PMID:10807545 PMID:12402336 PMID:14661677 More... NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2/5, digenic ClinVar PMID:10973849 PMID:11854117 PMID:15051636 PMID:22581653 PMID:24204727 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
long QT syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn5a sodium voltage-gated channel alpha subunit 5 treatment ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Long QT syndrome 3
OMIM:603830
DNA:mutations:cds:		 CTD
OMIM
ClinVar
MouseDO
RGD		 PMID:235469 PMID:256650 PMID:291807 PMID:461398 PMID:1097384 More... RGD:13831293 NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
Long QT Syndrome 3/6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Long QT syndrome 3/6, digenic ClinVar PMID:16922724 PMID:22581653 NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Long QT syndrome 3/6, digenic ClinVar PMID:9495298 PMID:9506831 PMID:10200053 PMID:10508990 PMID:10618304 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
long QT syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: ANK2-associated Complex Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-related Autism | ClinVar Annotator: match by term: Long QT syndrome 4 ClinVar PMID:7485162 PMID:12571597 PMID:15075330 PMID:15178757 PMID:16253912 More... NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
long QT syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: KCNE1-related condition | ClinVar Annotator: match by term: Long QT syndrome 5 | ClinVar Annotator: match by term: Long QT syndrome 5, acquired, susceptibility to
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1939241 PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 More... NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
long QT syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672 PMID:28492532 NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672 PMID:25640679 PMID:28492532 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Long QT syndrome 6 | ClinVar Annotator: match by term: Long QT syndrome 6, acquired, susceptibility to		 OMIM
CTD
ClinVar		 PMID:10219239 PMID:10220144 PMID:10973849 PMID:10984545 PMID:11034315 More... NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672 PMID:28492532 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672 PMID:28492532 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672 PMID:25640679 PMID:28492532 NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002 		JBrowse link
long QT syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Long qt syndrome 8 OMIM
ClinVar		 PMID:9536098 PMID:15454078 PMID:15863612 PMID:16199547 PMID:16360093 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
long QT syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 9 | ClinVar Annotator: match by term: Long QT syndrome 9, acquired, susceptibility to
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 PMID:11251997 More... NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2/9, digenic ClinVar PMID:14661677 PMID:15840476 PMID:17060380 PMID:19716085 PMID:19862833 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Long QT syndrome 9 | ClinVar Annotator: match by term: Long QT syndrome 9, acquired, susceptibility to ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Long QT syndrome 9 ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735 		JBrowse link
LONG-OLSEN-DISTELMAIER SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rragc Ras-related GTP binding C ISO ClinVar Annotator: match by term: Long-Olsen-Distelmaier syndrome ClinVar
OMIM		 PMID:25741868 NCBI chr 5:136,148,239...136,167,773
Ensembl chr 5:136,148,276...136,167,767 		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 Coa6 cytochrome c oxidase assembly factor 6 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 chr19:54,395,746...54,398,348
Ensembl chr19:54,395,742...54,399,407 		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 Coa5 cytochrome C oxidase assembly factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:39,651,459...39,664,870 JBrowse link
G Coa6 cytochrome c oxidase assembly factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:54,395,746...54,398,348
Ensembl chr19:54,395,742...54,399,407 		JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261 		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 chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938 		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 chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		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 Cox15 cytochrome c oxidase assembly homolog COX15 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 chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261 		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 Coa5 cytochrome C oxidase assembly factor 5 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 ClinVar
OMIM		 PMID:21457908 NCBI chr 9:39,651,459...39,664,870 JBrowse link
myofibrillar myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924 		JBrowse link
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,688,194...76,695,162
Ensembl chr 9:76,688,194...76,696,469 		JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,677,403...76,688,050
Ensembl chr 9:76,677,404...76,687,986 		JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,945,960...75,953,618
Ensembl chr 9:75,945,961...75,953,607 		JBrowse link
G Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344 		JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128 		JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100 		JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188 		JBrowse link
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460 		JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551 		JBrowse link
G Des desmin ISO
ISS		 ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy | ClinVar Annotator: match by term: Myofibrillar myopathy 1
OMIM:601419
CTD Direct Evidence: marker/mechanism
protein:altered expression:cardiomyocyte:		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:5828910 PMID:7672786 PMID:8114783 PMID:9382102 PMID:9536098 More... RGD:13542086 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277 		JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716 		JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065 		JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532 		JBrowse link
G Ldb3 LIM domain binding 3 ISS OMIM:601419 MouseDO NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680 		JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985 		JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444 		JBrowse link
G Plcd4 phospholipase C, delta 4 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453 		JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124 		JBrowse link
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959 		JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190 		JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722 		JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395 		JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849 		JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs ClinVar PMID:25741868 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Slc23a3 solute carrier family 23, member 3 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs ClinVar NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855 		JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422 		JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069 		JBrowse link
G Ttll4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918 		JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044 		JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400 		JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523 		JBrowse link
G Zfand2b zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445 		JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856 		JBrowse link
Naxos disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease | ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:17576681 More... NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		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
ISS		 ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency
OMIM:611126
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:7599230 PMID:9536098 PMID:16199547 PMID:17564966 PMID:17576681 More... NCBI chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547 		JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:10338090 PMID:14972327 PMID:16786517 PMID:22267502 PMID:23981774 More... NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		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 chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Cfap92 cilia and flagella associated protein 92 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 chr 4:120,126,565...120,181,575
Ensembl chr 4:120,126,567...120,181,546 		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:22425360 PMID:22693042 PMID:24178751 PMID:25407461 PMID:25533962 More... NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500 		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 chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		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 chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:25607374 PMID:25741868 PMID:28492532 NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348 		JBrowse link
peripartum cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat3 signal transducer and activator of transcription 3 ISS MouseDO NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
restrictive cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy ClinVar PMID:9536098 PMID:10528865 PMID:17576681 PMID:18414213 PMID:19562689 More... NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523 		JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy ClinVar PMID:20817017 PMID:22840528 PMID:23861362 PMID:25633834 PMID:25741868 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Ccn2 cellular communication network factor 2 IEP associated with Diabetes Mellitus, Experimental; protein:increased expression:cardiac muscle tissue (rat) RGD PMID:19381071 RGD:2314513 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734 		JBrowse link
G Des desmin ISO RGD PMID:11298680 RGD:1580290 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:14695533 PMID:15643612 PMID:25741868 PMID:28492532 PMID:31333075 More... NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:11063735 PMID:16628197 PMID:21636032 PMID:24033266 PMID:25741868 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:30260051 PMID:30418145 PMID:32659924 NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Map2k3 mitogen activated protein kinase kinase 3 ISO RGD PMID:11593045 RGD:1302548 NCBI chr10:45,608,145...45,629,492
Ensembl chr10:45,607,163...45,629,492 		JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:11593045 RGD:1302548 NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293 		JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO RGD PMID:11593045 RGD:1302548 NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:11861413 PMID:12707239 PMID:15358028 PMID:15483641 PMID:15769782 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:24111713 PMID:25132132 PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:211,141,463...211,168,187
Ensembl chr 2:211,141,463...211,168,221 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:30775854 PMID:31568572 NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy ClinVar PMID:23768516 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601 		JBrowse link
G Prkcd protein kinase C, delta IEP associated with Diabetes Mellitus, Type 1;protein:increased expression:heart ventricle RGD PMID:9458880 RGD:1642535 NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733 		JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:28492532 NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO
ISS		 OMIM:115210
ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
RGD		 PMID:9241277 PMID:10098965 PMID:11735257 PMID:11815426 PMID:12531876 More... RGD:1580419 NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar
RGD		 PMID:7898523 PMID:10525521 PMID:10978365 PMID:11606294 PMID:12818575 More... RGD:1580232 NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:23975875 PMID:25589632 PMID:25741868 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Wrn WRN RecQ like helicase ISO RGD PMID:15916825 RGD:1580820 NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450 		JBrowse link
restrictive cardiomyopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 ClinVar PMID:21920752 PMID:23194663 PMID:26627873 PMID:28492532 PMID:28493373 NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 ClinVar PMID:28492532 NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 ClinVar PMID:08673105 PMID:17142342 PMID:22131351 PMID:22958901 PMID:23054336 More... NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3144325 PMID:3349559 PMID:9241277 PMID:9536098 PMID:10098965 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721 		JBrowse link
restrictive cardiomyopathy 3 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: Cardiomyopathy, familial restrictive, 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:181617 PMID:209243 PMID:209262 PMID:541918 PMID:936231 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
Romano-Ward Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:23861362 PMID:24033266 PMID:24123366 PMID:25467552 PMID:25649125 More... NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:7485162 PMID:12571597 PMID:15178757 PMID:16253912 PMID:16650839 More... NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:15454078 PMID:15863612 PMID:16360093 PMID:17224476 PMID:18250309 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:14672715 PMID:15318349 PMID:17556197 PMID:24033266 PMID:25741868 More... NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar
RGD		 PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 PMID:9354802 More... RGD:1580499 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:10219239 PMID:10220144 PMID:10984545 PMID:14760488 PMID:15368194 More... NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval
ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval		 ClinVar PMID:260666 PMID:1100946 PMID:1813917 PMID:2581653 PMID:7889573 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:11371347 PMID:11841151 PMID:11861044 PMID:12086641 PMID:12148092 More... NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445 		JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:234416 PMID:234478 PMID:234515 PMID:280141 PMID:737968 More... RGD:1580509 NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:17556197 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:539905 PMID:617273 PMID:1097384 PMID:2437023 PMID:7889574 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:28837624 PMID:30847666 More... NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709 		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 chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292 		JBrowse link
Timothy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO
ISS		 DNA:missense mutations:exon:p.G406R, p.G402S (human)
ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1
OMIM:601005
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:10343407 PMID:12166659 PMID:15454078 PMID:15863612 More... RGD:1580173 NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
X-linked dilated cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2691353 PMID:7599638 PMID:7881286 PMID:8789442 PMID:8840119 More... NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      cardiovascular system disease 5407
        heart disease 3322
          cardiomyopathy 1309
            intrinsic cardiomyopathy 914
              arrhythmogenic biventricular cardiomyopathy 0
              arrhythmogenic left ventricular cardiomyopathy 0
              arrhythmogenic right ventricular cardiomyopathy + 120
              dilated cardiomyopathy + 462
              hypertrophic cardiomyopathy + 292
              infantile histiocytoid cardiomyopathy 5
              left ventricular noncompaction + 102
              long QT syndrome + 293
              restrictive cardiomyopathy + 53
paths to the root