Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:arrhythmogenic right ventricular cardiomyopathy
go back to main search page
Accession:DOID:0050431 term browser browse the term
Definition:An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle. (DO)
Synonyms:exact_synonym: ARVC;   ARVD;   ARVD-C;   Arrhythmogenic Right Ventricular Cardiomyopathy Dysplasia;   Arrhythmogenic Right Ventricular Dysplasia;   CARDIOMYOPATHY, ARVC;   right ventricular ACM;   right ventricular cardiomyopathy
 narrow_synonym: FAMILIAL ISOLATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA;   TAX1BP3-RELATED ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY
 broad_synonym: ARRHYTHMOGENIC CARDIOMYOPATHY
 primary_id: MESH:D019571
 xref: EFO:0002631;   MIM:PS107970;   MONDO:0016587;   NCI:C84571;   ORDO:217656;   ORDO:247


show annotations for term's descendants           Sort by:
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 PMID:20890277 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496 		JBrowse link
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:212,245,742...212,323,387
Ensembl chr 1:217,272,597...217,321,103 		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:26159999 PMID:28492532 NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608 		JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:28492532 NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905 		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 chr10:116,221,747...116,248,692
Ensembl chr10:119,643,963...119,665,964 		JBrowse link
G C12H2orf49 chromosome 12 C2orf49 homolog ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr2A:96,469,934...96,492,745
Ensembl chr2A:106,422,944...106,445,634 		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 chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826 		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 chr10:18,459,528...18,862,495
Ensembl chr10:18,795,832...19,195,226 		JBrowse link
G CALR3 calreticulin 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:17655857 PMID:23861362 PMID:28492532 NCBI chr19:15,969,684...15,986,858
Ensembl chr19:16,948,499...16,965,161 		JBrowse link
G CDH2 cadherin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:21,210,001...21,435,919
Ensembl chr18:24,812,019...25,008,325 		JBrowse link
G CRADD CARD and death domain containing adaptor protein ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chr12:91,220,813...91,593,799 JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:10717012 PMID:10905661 PMID:14991347 PMID:15050448 PMID:21262226 More... NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:23,728,650...26,338,849
Ensembl chr  X:31,282,415...33,492,733 		JBrowse link
G DSC2 desmocollin 2 susceptibility ISO DNA:SNP:exon 11: c.1660C>T, p.Gln554X (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 Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia
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 		RGD
ClinVar		 PMID:205460 PMID:1245073 PMID:7971964 PMID:9536098 PMID:16199547 More... RGD:243065272 NCBI chr18:24,296,505...24,332,997
Ensembl chr18:27,894,603...27,930,843 		JBrowse link
G DSG2 desmoglein 2 ameliorates
severity
susceptibility 		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: 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
DNA:mutation:cds: p.Phe531Cys(human) 		ClinVar
RGD		 PMID:271711 PMID:2040044 PMID:2569966 PMID:9536098 PMID:12586364 More... RGD:401851071 RGD:401851076 RGD:401851081 NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786 		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 PMID:9536098 PMID:10395892 PMID:10594734 PMID:11063735 PMID:12101406 More... NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391 		JBrowse link
G FHL2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr2A:96,391,513...96,469,267
Ensembl chr2A:106,446,368...106,484,895 		JBrowse link
G FLNC filamin C 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 PMID:25741868 PMID:27601210 PMID:27908349 PMID:28492532 PMID:31317183 More... NCBI chr 7:120,782,584...120,811,504
Ensembl chr 7:133,307,041...133,335,896 		JBrowse link
G GJA1 gap junction protein alpha 1 ISO protein:decreased expression:buccal mucosa
protein:decreased expression:cardiac ventricle (mouse)
protein:altered expression:ventricle 		RGD PMID:23178689 PMID:26850880 PMID:27412010 RGD:11352402 RGD:13592599 RGD:265253172 NCBI chr 6:119,213,513...119,227,617 JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:25741868 NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285 		JBrowse link
G IFT43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chr14:56,544,333...56,642,312
Ensembl chr14:75,387,742...75,485,506 		JBrowse link
G IL6R interleukin 6 receptor ISO protein:increased expression:serum RGD PMID:21859801 RGD:10402826 NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089 		JBrowse link
G JUP junction plakoglobin 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:24884844 PMID:25741868 PMID:28098346 PMID:28492532 More... NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479 		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 Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC 		ClinVar PMID:9328483 PMID:9354783 PMID:9354802 PMID:9445165 PMID:10400998 More... NCBI chr21:20,818,395...20,884,053
Ensembl chr21:34,190,043...34,190,441 		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 7:142,528,979...142,562,074 JBrowse link
G LAMA4 laminin subunit alpha 4 ISO 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 chr 6:109,920,329...110,066,076
Ensembl chr 6:113,995,888...114,141,273 		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 chr10:83,095,625...83,164,297
Ensembl chr10:86,654,737...86,722,148
Ensembl chr10:86,654,737...86,722,148 		JBrowse link
G LMNA lamin A/C 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: 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 PMID:17377071 PMID:22224630 PMID:22266370 PMID:22464770 PMID:23183350 More... NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539 		JBrowse link
G LOC100978529 myosin-7 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: Familial isolated arrhythmogenic right ventricular dysplasia
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 chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763 		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 chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849 		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 More... NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331 		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 chr12:108,479,941...108,489,739
Ensembl chr12:111,873,270...111,883,047 		JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:28492532 NCBI chr18:11,057,733...11,215,998
Ensembl chr18:13,368,052...13,523,834 		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 chr10:64,590,232...64,696,512
Ensembl chr10:66,902,008...67,004,967 		JBrowse link
G PDLIM3 PDZ and LIM domain 3 ISO MouseDO NCBI chr 4:177,664,420...177,698,364
Ensembl chr 4:189,880,938...189,914,707 		JBrowse link
G PKP2 plakophilin 2 ISO 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 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 PMID:2163603 PMID:2412583 PMID:9536098 PMID:11790773 PMID:15489853 More... NCBI chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998 		JBrowse link
G PPP1R13L protein phosphatase 1 regulatory subunit 13 like ISO MouseDO NCBI chr19:42,328,814...42,355,088 JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G RBM20 RNA binding motif protein 20 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:23396983 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26498160 More... NCBI chr10:107,240,854...107,433,749
Ensembl chr10:110,822,255...110,882,909 		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 RGD
ClinVar		 PMID:11159936 PMID:12093772 PMID:12459180 PMID:16769042 PMID:18326664 More... RGD:1599243 NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 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:10973849 PMID:11222472 PMID:12354768 PMID:12820704 PMID:14523039 More... NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202 		JBrowse link
G SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr17:44,255,807...44,266,182
Ensembl chr17:49,130,332...49,141,188 		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 chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961 		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 chr17:3,713,211...3,718,959
Ensembl chr17:3,709,600...3,715,342 		JBrowse link
G TGFB3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chr14:56,516,697...56,542,097
Ensembl chr14:75,359,505...75,382,412 		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 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587 		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:21270786 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 More... NCBI chr12:96,100,509...96,135,364
Ensembl chr12:99,514,803...99,546,535 		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 chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464 		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: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Right ventricular cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:23396983 PMID:23861362 PMID:24033266 More... NCBI chr2B:65,783,512...66,064,618 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 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377 		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 PMID:19863551 PMID:23299917 PMID:25163546 PMID:25637381 PMID:25741868 More... NCBI chr18:24,296,505...24,332,997
Ensembl chr18:27,894,603...27,930,843 		JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19569224 More... NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 ClinVar PMID:15519027 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 ClinVar PMID:19863551 PMID:24704780 PMID:25741868 PMID:28492532 NCBI chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998 		JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:140,681,252...140,742,753
Ensembl chr 8:143,674,696...143,712,433 		JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 ClinVar PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509 		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: TGFB3-related condition OMIM
ClinVar		 PMID:12529708 PMID:15639475 PMID:16199547 PMID:23861362 PMID:25637381 More... NCBI chr14:56,516,697...56,542,097
Ensembl chr14:75,359,505...75,382,412 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 PMID:35653365 NCBI chr2B:65,783,512...66,064,618 JBrowse link
arrhythmogenic right ventricular dysplasia 10 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, 10 ClinVar PMID:20031617 PMID:20152563 PMID:20857253 PMID:20864495 PMID:21606390 More... NCBI chr18:24,296,505...24,332,997
Ensembl chr18:27,894,603...27,930,843 		JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 OMIM
ClinVar		 PMID:2040044 PMID:9536098 PMID:12586364 PMID:16025435 PMID:16199547 More... NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786 		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 chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943 		JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 ClinVar PMID:28492532 NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960 		JBrowse link
arrhythmogenic right ventricular dysplasia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSC1 desmocollin 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 ClinVar PMID:23911551 PMID:28492532 PMID:29038103 NCBI chr18:24,358,116...24,393,604
Ensembl chr18:27,955,717...27,990,818 		JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 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
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 		OMIM
ClinVar		 PMID:7971964 PMID:9536098 PMID:16199547 PMID:17033975 PMID:17186466 More... NCBI chr18:24,296,505...24,332,997
Ensembl chr18:27,894,603...27,930,843 		JBrowse link
G DSG1 desmoglein 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 ClinVar PMID:23911551 PMID:28492532 PMID:29038103 NCBI chr18:24,543,061...24,579,085
Ensembl chr18:28,078,131...28,175,803 		JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 ClinVar PMID:23911551 PMID:28492532 PMID:29038103 NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786 		JBrowse link
G DSG3 desmoglein 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 ClinVar PMID:23911551 PMID:28492532 PMID:29038103 NCBI chr18:24,664,969...24,695,271
Ensembl chr18:28,262,860...28,293,879 		JBrowse link
G DSG4 desmoglein 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 ClinVar PMID:23911551 PMID:28492532 PMID:29038103 NCBI chr18:24,595,021...24,633,182
Ensembl chr18:28,192,145...28,230,358 		JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 ClinVar PMID:23911551 PMID:28492532 PMID:29038103 NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960 		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 ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 OMIM
ClinVar		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:16722579 More... NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479 		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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21254927 PMID:22421363 More... NCBI chr10:62,388,454...64,177,116
Ensembl chr10:64,712,576...66,442,238 		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 chr10:63,407,003...63,594,210
Ensembl chr10:65,722,425...65,893,608 		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 chr18:21,210,001...21,435,919
Ensembl chr18:24,812,019...25,008,325 		JBrowse link
G RSRP1 arginine and serine rich protein 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 14 ClinVar PMID:25741868 NCBI chr 1:24,440,889...24,446,165 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 ISO OMIM:604400 MouseDO NCBI chr 3:39,311,321...39,317,083
Ensembl chr 3:39,591,012...39,596,748
Ensembl chr12:39,591,012...39,596,748 		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 dysplasia 5 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230648 PMID:18313022 More... NCBI chr 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587 		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 DYSPLASIA, FAMILIAL, 8 ClinVar PMID:28492532 NCBI chr 6:7,564,164...7,720,341
Ensembl chr 6:7,848,249...8,000,649 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 8 | ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 OMIM
ClinVar		 PMID:2185974 PMID:3198322 PMID:8769422 PMID:9229116 PMID:9536098 More... NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391 		JBrowse link
G SNRNP48 small nuclear ribonucleoprotein U11/U12 subunit 48 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 ClinVar PMID:28492532 NCBI chr 6:7,430,029...7,451,750
Ensembl chr 6:7,712,986...7,734,669 		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 dysplasia 9 ClinVar PMID:25741868 NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604 		JBrowse link
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:27066507 PMID:28492532 NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376 		JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar NCBI chr18:24,296,505...24,332,997
Ensembl chr18:27,894,603...27,930,843 		JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar PMID:16199547 PMID:16773573 PMID:17105751 PMID:19151369 PMID:19863551 More... NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786 		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 chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391 		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 chr12:53,574,573...53,822,971
Ensembl chr12:56,181,565...56,421,810 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:25741868 NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539 		JBrowse link
G LOC100978529 myosin-7 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:25741868 NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763 		JBrowse link
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331 		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 dysplasia 9 OMIM
ClinVar		 PMID:2163603 PMID:2412583 PMID:9536098 PMID:11790773 PMID:15489853 More... NCBI chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar PMID:14519435 PMID:24033266 PMID:24503780 PMID:25741868 PMID:27532257 More... NCBI chr 7:143,143,556...143,463,492
Ensembl chr 7:155,293,748...155,610,078 		JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26567375 More... NCBI chr2B:65,783,512...66,064,618 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 chr12:53,463,086...53,493,352
Ensembl chr12:56,065,505...56,076,026 		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 chr 6:7,564,164...7,720,341
Ensembl chr 6:7,848,249...8,000,649 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH LEFT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair OMIM
ClinVar		 PMID:2185974 PMID:3198322 PMID:8769422 PMID:9229116 PMID:9536098 More... NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391 		JBrowse link
G SNRNP48 small nuclear ribonucleoprotein U11/U12 subunit 48 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma ClinVar PMID:28492532 NCBI chr 6:7,430,029...7,451,750
Ensembl chr 6:7,712,986...7,734,669 		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 chr 1:212,245,742...212,323,387
Ensembl chr 1:217,272,597...217,321,103 		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 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905 		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 1:86,162,401...86,193,883
Ensembl chr 1:121,212,488...121,243,099 		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 chr14:71,015,099...71,026,322
Ensembl chr19:52,121,687...52,131,135
Ensembl chr2A:52,121,687...52,131,135 		JBrowse link
G CASQ2 calsequestrin 2 ISO 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
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 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: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 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: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
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 PMID:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 More... NCBI chr 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311 		JBrowse link
G DMPK DM1 protein kinase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr19:42,779,173...42,791,981
Ensembl chr19:51,316,099...51,329,355 		JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1 ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 PMID:33552729 NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391 		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 7:142,528,979...142,562,074 JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 6:109,920,329...110,066,076
Ensembl chr 6:113,995,888...114,141,273 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:15843404 More... NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539 		JBrowse link
G LOC100990811 fucose-1-phosphate guanylyltransferase ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 ClinVar PMID:25741868 NCBI chr 1:73,464,364...73,772,977
Ensembl chr 1:75,403,555...75,747,240 		JBrowse link
G MAB21L3 mab-21 like 3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 1:86,432,777...86,457,064
Ensembl chr 1:121,481,357...121,504,841 		JBrowse link
G MT1HL1 metallothionein 1H like 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 1:212,568,334...212,568,824
Ensembl chr 1:217,566,250...217,566,435 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946 		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 chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849 		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 1:86,719,650...86,727,607
Ensembl chr 1:121,774,940...121,775,347 		JBrowse link
G RYR2 ryanodine receptor 2 ISO 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 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: 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 		OMIM
ClinVar		 PMID:1992601 PMID:8589694 PMID:9536098 PMID:11078270 PMID:11157710 More... NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509 		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: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1 ClinVar PMID:15840476 PMID:19841300 PMID:20129283 PMID:22581653 PMID:23805106 More... NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202 		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 1:86,497,379...86,591,157
Ensembl chr 1:121,547,438...121,628,151 		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 chr15:41,989,239...42,018,520
Ensembl chr15:60,286,587...60,315,530 		JBrowse link
G TRDN triadin ISO 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
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 1 		ClinVar PMID:9536098 PMID:10497235 PMID:16199547 PMID:17576681 PMID:19403623 More... NCBI chr 6:121,010,234...121,424,644
Ensembl chr 6:125,134,433...125,546,537 		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 PMID:28492532 NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464 		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 1:86,865,983...86,922,175
Ensembl chr 1:121,921,934...121,970,552 		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 OMIM
ClinVar		 PMID:3198322 PMID:9536098 PMID:11063735 PMID:12101406 PMID:12802069 More... NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391 		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 (LAN blood group) ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,467,345...106,476,614
Ensembl chr2B:225,058,771...225,067,626 		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 chr2B:106,487,377...106,494,258
Ensembl chr2B:225,078,322...225,085,205 		JBrowse link
G ATG9A autophagy related 9A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,477,007...106,487,249
Ensembl chr2B:225,067,590...225,078,065 		JBrowse link
G BCS1L BCS1 ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856 		JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:105,615,244...105,627,114
Ensembl chr2B:224,213,335...224,223,583 		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 chr2B:106,217,926...106,220,444 JBrowse link
G CFAP65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,260,872...106,299,594
Ensembl chr2B:224,854,262...224,892,490 		JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:105,826,633...105,854,415
Ensembl chr2B:224,422,467...224,450,133 		JBrowse link
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,429,610...106,435,887
Ensembl chr2B:225,022,210...225,028,410 		JBrowse link
G CRYBA2 crystallin beta A2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,248,236...106,252,081
Ensembl chr2B:224,841,620...224,844,836 		JBrowse link
G CTDSP1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:105,658,394...105,664,571
Ensembl chr2B:224,254,460...224,262,000 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,042,235...106,076,840
Ensembl chr2B:224,637,238...224,671,474 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy | ClinVar Annotator: match by term: Myofibrillar myopathy 1 OMIM
ClinVar		 PMID:5828910 PMID:7672786 PMID:8114783 PMID:9382102 PMID:9536098 More... NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604 		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 chr2B:106,536,846...106,544,430
Ensembl chr2B:225,127,967...225,135,556 		JBrowse link
G DNPEP aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,631,392...106,645,100
Ensembl chr2B:225,221,703...225,247,699 		JBrowse link
G FEV FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,238,933...106,243,499 JBrowse link
G GLB1L galactosidase beta 1 like ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,494,214...106,503,001
Ensembl chr2B:225,085,163...225,093,610 		JBrowse link
G IHH Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,312,472...106,319,124
Ensembl chr2B:224,906,271...224,911,506 		JBrowse link
G LDB3 LIM domain binding 3 ISO OMIM:601419 MouseDO NCBI chr10:83,095,625...83,164,297
Ensembl chr10:86,654,737...86,722,148
Ensembl chr10:86,654,737...86,722,148 		JBrowse link
G NHEJ1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,326,596...106,419,928
Ensembl chr2B:224,926,183...225,008,788 		JBrowse link
G PLCD4 phospholipase C delta 4 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:105,864,706...105,895,114
Ensembl chr2B:224,461,261...224,490,345 		JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:105,529,775...105,606,207
Ensembl chr2B:224,127,504...224,204,046 		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 chr2B:106,085,299...106,139,298
Ensembl chr2B:224,679,831...224,687,705 		JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,547,156...106,567,056
Ensembl chr2B:225,138,887...225,206,700 		JBrowse link
G RESP18 regulated endocrine specific protein 18 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,584,632...106,590,704
Ensembl chr2B:225,175,221...225,180,916 		JBrowse link
G RETREG2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,435,938...106,441,428
Ensembl chr2B:225,028,498...225,034,024 		JBrowse link
G RNF25 ring finger protein 25 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:105,921,875...105,930,034
Ensembl chr2B:224,517,286...224,525,253 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941 		JBrowse link
G SLC23A3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,418,754...106,427,931
Ensembl chr2B:225,011,825...225,020,503 		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 chr18:11,479,742...11,627,035
Ensembl chr18:13,785,912...13,933,887 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,692,222...106,750,922
Ensembl chr2B:225,282,676...225,339,910 		JBrowse link
G STK16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,502,953...106,506,470
Ensembl chr2B:225,093,645...225,098,504 		JBrowse link
G STK36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:105,930,030...105,960,718
Ensembl chr2B:224,525,226...224,555,583 		JBrowse link
G TMBIM1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:105,533,578...105,551,969
Ensembl chr2B:224,131,478...224,143,170 		JBrowse link
G TTLL4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:105,968,840...106,016,034
Ensembl chr2B:224,563,691...224,610,431 		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 chr2B:65,783,512...66,064,618 JBrowse link
G TUBA4A tubulin alpha 4a ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,507,842...106,512,155
Ensembl chr2B:225,093,643...225,102,188 		JBrowse link
G USP37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:105,708,070...105,826,435
Ensembl chr2B:224,304,520...224,422,228 		JBrowse link
G VIL1 villin 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:105,677,371...105,711,293
Ensembl chr2B:224,274,548...224,304,550 		JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912 		JBrowse link
G WNT6 Wnt family member 6 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,119,740...106,134,317
Ensembl chr2B:224,714,229...224,728,171 		JBrowse link
G ZFAND2B zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:106,464,364...106,467,217
Ensembl chr2B:225,055,969...225,058,647 		JBrowse link
G ZNF142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr2B:105,894,127...105,917,608
Ensembl chr2B:224,492,064...224,509,839 		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
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: WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES
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		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:16722579 More... NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15857
    physical disorder 5179
      congenital heart disease 1413
        arrhythmogenic right ventricular cardiomyopathy 120
          Naxos disease + 4
          arrhythmogenic right ventricular dysplasia 1 9
          arrhythmogenic right ventricular dysplasia 10 4
          arrhythmogenic right ventricular dysplasia 11 7
          arrhythmogenic right ventricular dysplasia 12 1
          arrhythmogenic right ventricular dysplasia 13 2
          arrhythmogenic right ventricular dysplasia 14 2
          arrhythmogenic right ventricular dysplasia 3 0
          arrhythmogenic right ventricular dysplasia 4 0
          arrhythmogenic right ventricular dysplasia 5 2
          arrhythmogenic right ventricular dysplasia 6 0
          arrhythmogenic right ventricular dysplasia 8 3
          arrhythmogenic right ventricular dysplasia 9 14
          catecholaminergic polymorphic ventricular tachycardia 1 24
          myofibrillar myopathy 1 43
Path 2
Term Annotations click to browse term
  disease 15857
    disease of anatomical entity 15504
      respiratory system disease 4891
        thoracic disease 3742
          heart disease 3193
            cardiomyopathy 1345
              intrinsic cardiomyopathy 994
                arrhythmogenic right ventricular cardiomyopathy 120
                  Naxos disease + 4
                  arrhythmogenic right ventricular dysplasia 1 9
                  arrhythmogenic right ventricular dysplasia 10 4
                  arrhythmogenic right ventricular dysplasia 11 7
                  arrhythmogenic right ventricular dysplasia 12 1
                  arrhythmogenic right ventricular dysplasia 13 2
                  arrhythmogenic right ventricular dysplasia 14 2
                  arrhythmogenic right ventricular dysplasia 3 0
                  arrhythmogenic right ventricular dysplasia 4 0
                  arrhythmogenic right ventricular dysplasia 5 2
                  arrhythmogenic right ventricular dysplasia 6 0
                  arrhythmogenic right ventricular dysplasia 8 3
                  arrhythmogenic right ventricular dysplasia 9 14
                  catecholaminergic polymorphic ventricular tachycardia 1 24
                  myofibrillar myopathy 1 43
paths to the root