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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:arrhythmogenic right ventricular cardiomyopathy
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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

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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 chrNW_004936548:4,983,461...5,110,693
Ensembl chrNW_004936548:4,987,847...5,108,104 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:25224718 PMID:25741868 PMID:28492532 PMID:31956495 NCBI chrNW_004936484:16,186,844...16,248,394
Ensembl chrNW_004936484:16,186,642...16,248,400 		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 chrNW_004936621:2,247,082...2,374,407
Ensembl chrNW_004936621:2,246,179...2,374,454 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:28492532 NCBI chrNW_004936563:3,520,195...4,170,716
Ensembl chrNW_004936563:3,520,193...4,171,362 		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 chrNW_004936486:8,985,871...9,007,461
Ensembl chrNW_004936486:8,985,761...9,007,502 		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 chrNW_004936606:2,168,104...2,867,560
Ensembl chrNW_004936606:2,168,625...2,865,758 		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 chrNW_004936520:8,951,994...9,164,039
Ensembl chrNW_004936520:8,955,164...9,295,331 		JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:17655857 PMID:23861362 PMID:28492532 NCBI chrNW_004936596:4,120,292...4,140,432
Ensembl chrNW_004936596:4,120,295...4,140,432 		JBrowse link
G Cdh2 cadherin 2 ISO DNA:mutation:cds:c.1219G>A(p.D407N)(human)
DNA:missense mutations:cds:c.686A>C(p.Q229P), c.1219G>A (p.D407N)(human)		 RGD PMID:28280076 PMID:28326674 RGD:13524622 RGD:13524623 NCBI chrNW_004936550:6,885,484...7,067,001
Ensembl chrNW_004936550:6,886,706...6,945,056 		JBrowse link
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain ISO ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia ClinVar NCBI chrNW_004936507:10,077,345...10,264,705
Ensembl chrNW_004936507:10,098,171...10,264,716 		JBrowse link
G CUNH2orf49 chromosome unknown C2orf49 homolog ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chrNW_004936764:656,431...675,591
Ensembl chrNW_004936764:665,524...675,556 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:10717012 PMID:10905661 PMID:14991347 PMID:15050448 PMID:21262226 More... NCBI chrNW_004936569:1,807,902...1,814,936
Ensembl chrNW_004936569:1,807,805...1,815,562 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936553:7,157,526...7,943,703 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		 RGD
ClinVar		 PMID:205460 PMID:1245073 PMID:7971964 PMID:9536098 PMID:16199547 More... RGD:243065272 NCBI chrNW_004936682:2,057,331...2,091,034
Ensembl chrNW_004936682:2,057,190...2,164,429 		JBrowse link
G Dsg2 desmoglein 2 severity
ameliorates
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
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 chrNW_004936682:1,676,301...1,725,132
Ensembl chrNW_004936682:1,676,290...1,722,783 		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:491020 PMID:9536098 PMID:10395892 PMID:10594734 PMID:11063735 More... NCBI chrNW_004936534:5,029,008...5,076,467
Ensembl chrNW_004936534:5,028,911...5,077,199 		JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chrNW_004936764:613,863...656,220
Ensembl chrNW_004936764:613,193...656,224 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:32112656 PMID:34587765 PMID:37164047 NCBI chrNW_004936479:15,756,370...15,784,365
Ensembl chrNW_004936479:15,756,370...15,784,359 		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 chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chrNW_004936471:32,527,551...32,570,548
Ensembl chrNW_004936471:32,529,847...32,570,284 		JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004936488:5,011,792...5,090,980
Ensembl chrNW_004936488:5,011,642...5,091,007 		JBrowse link
G Il6r interleukin 6 receptor ISO protein:increased expression:serum RGD PMID:21859801 RGD:10402826 NCBI chrNW_004936580:4,055,438...4,081,876
Ensembl chrNW_004936580:4,057,771...4,081,885 		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 Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia ClinVar PMID:24033266 PMID:24884844 PMID:25741868 PMID:28098346 PMID:28492532 More... NCBI chrNW_004936490:16,671,176...16,694,552
Ensembl chrNW_004936490:16,668,575...16,694,615 		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 chrNW_004936500:7,998,464...8,007,848
Ensembl chrNW_004936500:8,007,291...8,007,680 		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 chrNW_004936527:6,380,222...6,412,390
Ensembl chrNW_004936527:6,379,669...6,412,390 		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 chrNW_004936679:803,131...938,022
Ensembl chrNW_004936679:802,885...937,721 		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 chrNW_004936804:196,592...259,168
Ensembl chrNW_004936804:196,598...259,168 		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 PMID:22224630 PMID:22266370 PMID:22464770 PMID:23183350 PMID:23853504 More... NCBI chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		JBrowse link
G LOC101972165 myosin-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 chrNW_004936722:967,443...991,530
Ensembl chrNW_004936722:969,384...991,129 		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 chrNW_004936562:1,871,194...1,890,092
Ensembl chrNW_004936562:1,871,410...1,889,648 		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 chrNW_004936558:3,746,227...3,753,576
Ensembl chrNW_004936558:3,745,864...3,753,681 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004936672:1,351,053...1,481,954
Ensembl chrNW_004936672:1,351,002...1,482,124 		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 chrNW_004936521:10,050,638...10,142,395
Ensembl chrNW_004936521:10,050,638...10,142,395 		JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO MouseDO NCBI chrNW_004936554:3,844,896...3,874,168
Ensembl chrNW_004936554:3,844,743...3,874,174 		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 chrNW_004936607:3,458,406...3,530,066
Ensembl chrNW_004936607:3,458,073...3,532,543 		JBrowse link
G Ppp1r13l protein phosphatase 1 regulatory subunit 13 like ISO MouseDO NCBI chrNW_004936706:1,835,306...1,846,821
Ensembl chrNW_004936706:1,837,001...1,846,494 		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 chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448 		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 chrNW_004936486:1,472,170...1,652,314
Ensembl chrNW_004936486:1,472,227...1,653,209 		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 RGD
ClinVar		 PMID:11159936 PMID:12093772 PMID:12459180 PMID:16769042 PMID:18326664 More... RGD:1599243 NCBI chrNW_004936484:15,402,488...15,825,410
Ensembl chrNW_004936484:15,403,819...15,824,441 		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 chrNW_004936473:27,883,526...27,963,994
Ensembl chrNW_004936473:27,883,526...27,963,994 		JBrowse link
G Sgca sarcoglycan alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936490:11,470,155...11,482,377
Ensembl chrNW_004936490:11,468,935...11,482,468 		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 chrNW_004936508:12,162,553...12,281,812
Ensembl chrNW_004936508:12,162,547...12,281,820 		JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:25645515 PMID:25741868 PMID:32576985 NCBI chrNW_004936677:361,300...367,234 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 Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chrNW_004936488:4,986,712...5,008,728
Ensembl chrNW_004936488:4,986,748...5,008,496 		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 chrNW_004936602:104,424...113,692
Ensembl chrNW_004936602:104,033...113,738 		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 chrNW_004936492:14,972,391...15,000,115
Ensembl chrNW_004936492:14,971,968...15,000,060 		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 chrNW_004936664:3,093,258...3,124,473
Ensembl chrNW_004936664:3,093,367...3,124,117 		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 chrNW_004936509:7,733,426...7,999,503 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 chrNW_004936602:118,173...139,884
Ensembl chrNW_004936602:118,188...139,675 		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 chrNW_004936682:2,057,331...2,091,034
Ensembl chrNW_004936682:2,057,190...2,164,429 		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 chrNW_004936682:1,676,301...1,725,132
Ensembl chrNW_004936682:1,676,290...1,722,783 		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 chrNW_004936534:5,029,008...5,076,467
Ensembl chrNW_004936534:5,028,911...5,077,199 		JBrowse link
G LOC101957084 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 chrNW_004936470:8,194,124...8,252,139
Ensembl chrNW_004936470:8,216,205...8,250,978 		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 chrNW_004936562:1,871,194...1,890,092
Ensembl chrNW_004936562:1,871,410...1,889,648 		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 chrNW_004936607:3,458,406...3,530,066
Ensembl chrNW_004936607:3,458,073...3,532,543 		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 chrNW_004936484:15,402,488...15,825,410
Ensembl chrNW_004936484:15,403,819...15,824,441 		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 OMIM
ClinVar		 PMID:12529708 PMID:15639475 PMID:16199547 PMID:23824657 PMID:23861362 More... NCBI chrNW_004936488:4,986,712...5,008,728
Ensembl chrNW_004936488:4,986,748...5,008,496 		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 chrNW_004936509:7,733,426...7,999,503 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 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
ClinVar		 PMID:271711 PMID:2040044 PMID:2569966 PMID:9536098 PMID:12586364 More... NCBI chrNW_004936682:1,676,301...1,725,132
Ensembl chrNW_004936682:1,676,290...1,722,783 		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 chrNW_004936541:7,845,876...7,863,677
Ensembl chrNW_004936541:7,845,676...7,863,709 		JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 ClinVar PMID:28492532 NCBI chrNW_004936682:1,628,489...1,635,495
Ensembl chrNW_004936682:1,628,341...1,635,566 		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 chrNW_004936682:2,013,414...2,040,148
Ensembl chrNW_004936682:2,013,414...2,040,148 		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 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:205460 PMID:1245073 PMID:7971964 PMID:9536098 PMID:16199547 More... NCBI chrNW_004936682:2,057,331...2,091,034
Ensembl chrNW_004936682:2,057,190...2,164,429 		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 chrNW_004936682:1,854,637...1,889,426
Ensembl chrNW_004936682:1,853,594...1,889,488 		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 chrNW_004936682:1,676,301...1,725,132
Ensembl chrNW_004936682:1,676,290...1,722,783 		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 chrNW_004936682:1,738,615...1,764,216 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 chrNW_004936682:1,803,862...1,829,352
Ensembl chrNW_004936682:1,803,862...1,841,396 		JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 ClinVar PMID:23911551 PMID:28492532 PMID:29038103 NCBI chrNW_004936682:1,628,489...1,635,495
Ensembl chrNW_004936682:1,628,341...1,635,566 		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:17576681 More... NCBI chrNW_004936490:16,671,176...16,694,552
Ensembl chrNW_004936490:16,668,575...16,694,615 		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 chrNW_004936521:10,482,434...10,936,554 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 chrNW_004936925:330,424...492,052
Ensembl chrNW_004936925:330,399...493,632 		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 chrNW_004936550:6,885,484...7,067,001
Ensembl chrNW_004936550:6,886,706...6,945,056 		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 chrNW_004936473:28,624,110...28,628,488 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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230648 PMID:18313022 More... NCBI chrNW_004936602:104,424...113,692
Ensembl chrNW_004936602:104,033...113,738 		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 chrNW_004936534:4,707,658...4,871,865
Ensembl chrNW_004936534:4,709,064...4,871,023 		JBrowse link
G Dsp desmoplakin ISO 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
ClinVar		 PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 More... NCBI chrNW_004936534:5,029,008...5,076,467
Ensembl chrNW_004936534:5,028,911...5,077,199 		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 chrNW_004936534:5,007,362...5,025,187
Ensembl chrNW_004936534:5,007,360...5,025,272 		JBrowse link
G Tubb3 tubulin beta 3 class III ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 ClinVar PMID:25741868 NCBI chrNW_004936641:184,736...193,835
Ensembl chrNW_004936641:184,765...193,819 		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 chrNW_004936569:1,807,902...1,814,936
Ensembl chrNW_004936569:1,807,805...1,815,562 		JBrowse link
G Dnm1l dynamin 1 like ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:27066507 PMID:28492532 NCBI chrNW_004936607:3,576,357...3,632,423
Ensembl chrNW_004936607:3,576,392...3,632,554 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar NCBI chrNW_004936682:2,057,331...2,091,034
Ensembl chrNW_004936682:2,057,190...2,164,429 		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 chrNW_004936682:1,676,301...1,725,132
Ensembl chrNW_004936682:1,676,290...1,722,783 		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 chrNW_004936534:5,029,008...5,076,467
Ensembl chrNW_004936534:5,028,911...5,077,199 		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 chrNW_004936607:3,675,217...3,796,329
Ensembl chrNW_004936607:3,679,887...3,877,470 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:25741868 NCBI chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		JBrowse link
G LOC101972165 myosin-7 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:25741868 NCBI chrNW_004936722:967,443...991,530
Ensembl chrNW_004936722:969,384...991,129 		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 OMIM
ClinVar		 PMID:2163603 PMID:2412583 PMID:9536098 PMID:11790773 PMID:15489853 More... NCBI chrNW_004936607:3,458,406...3,530,066
Ensembl chrNW_004936607:3,458,073...3,532,543 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:14519435 PMID:24033266 PMID:24503780 PMID:25741868 PMID:27532257 More... NCBI chrNW_004936527:6,907,723...7,168,222
Ensembl chrNW_004936527:6,909,044...7,167,600 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:25741868 NCBI chrNW_004936484:15,402,488...15,825,410
Ensembl chrNW_004936484:15,403,819...15,824,441 		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 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 chrNW_004936509:7,733,426...7,999,503 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 chrNW_004936607:3,565,333...3,590,499
Ensembl chrNW_004936607:3,565,295...3,574,846 		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 chrNW_004936534:4,707,658...4,871,865
Ensembl chrNW_004936534:4,709,064...4,871,023 		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: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair OMIM
ClinVar		 PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 More... NCBI chrNW_004936534:5,029,008...5,076,467
Ensembl chrNW_004936534:5,028,911...5,077,199 		JBrowse link
G Snrnp48 small nuclear ribonucleoprotein U11/U12 subunit 48 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chrNW_004936534:5,007,362...5,025,187
Ensembl chrNW_004936534:5,007,360...5,025,272 		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 chrNW_004936484:16,186,844...16,248,394
Ensembl chrNW_004936484:16,186,642...16,248,400 		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 chrNW_004936563:3,520,195...4,170,716
Ensembl chrNW_004936563:3,520,193...4,171,362 		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 chrNW_004936627:1,555,151...1,584,370
Ensembl chrNW_004936627:1,554,873...1,584,638 		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 chrNW_004936488:17,580,425...17,588,480
Ensembl chrNW_004936488:17,580,454...17,588,507 		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: 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 chrNW_004936627:1,001,681...1,069,377
Ensembl chrNW_004936627:1,001,678...1,069,438 		JBrowse link
G Dmpk DM1 protein kinase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chrNW_004936706:2,125,237...2,135,974
Ensembl chrNW_004936706:2,124,238...2,134,976 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chrNW_004936682:1,676,301...1,725,132
Ensembl chrNW_004936682:1,676,290...1,722,783 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 PMID:33552729 NCBI chrNW_004936534:5,029,008...5,076,467
Ensembl chrNW_004936534:5,028,911...5,077,199 		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 chrNW_004936527:6,380,222...6,412,390
Ensembl chrNW_004936527:6,379,669...6,412,390 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chrNW_004936679:803,131...938,022
Ensembl chrNW_004936679:802,885...937,721 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY ClinVar PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:15843404 More... NCBI chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		JBrowse link
G LOC101962457 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, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1		 ClinVar PMID:9536098 PMID:10497235 PMID:16199547 PMID:17576681 PMID:19403623 More... NCBI chrNW_004936802:389,653...637,372 JBrowse link
G Mab21l3 mab-21 like 3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chrNW_004936627:1,336,731...1,375,501
Ensembl chrNW_004936627:1,336,726...1,357,668 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chrNW_004936484:16,087,924...16,180,089
Ensembl chrNW_004936484:16,087,923...16,180,148 		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 chrNW_004936562:1,871,194...1,890,092
Ensembl chrNW_004936562:1,871,410...1,889,648 		JBrowse link
G Nhlh2 nescient helix-loop-helix 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chrNW_004936627:1,130,064...1,135,092
Ensembl chrNW_004936627:1,131,807...1,135,012 		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, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY | 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
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC		 OMIM
ClinVar		 PMID:285698 PMID:1817325 PMID:1992601 PMID:8589694 PMID:9536098 More... NCBI chrNW_004936484:15,402,488...15,825,410
Ensembl chrNW_004936484:15,403,819...15,824,441 		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, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY ClinVar PMID:15840476 PMID:19841300 PMID:20129283 PMID:22581653 PMID:23805106 More... NCBI chrNW_004936473:27,883,526...27,963,994
Ensembl chrNW_004936473:27,883,526...27,963,994 		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 chrNW_004936627:1,237,714...1,295,639
Ensembl chrNW_004936627:1,240,385...1,295,099 		JBrowse link
G Tnni3k TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:25741868 NCBI chrNW_004936571:1,559,845...1,843,985
Ensembl chrNW_004936571:1,559,956...1,843,688 		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 chrNW_004936471:23,643,645...23,670,775
Ensembl chrNW_004936471:23,643,613...23,670,775 		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 chrNW_004936664:3,093,258...3,124,473
Ensembl chrNW_004936664:3,093,367...3,124,117 		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 chrNW_004936627:942,570...992,081
Ensembl chrNW_004936627:942,483...992,071 		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:12101406 PMID:12802069 PMID:15941723 More... NCBI chrNW_004936534:5,029,008...5,076,467
Ensembl chrNW_004936534:5,028,911...5,077,199 		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 chrNW_004936569:1,628,649...1,635,599
Ensembl chrNW_004936569:1,625,374...1,635,694 		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 chrNW_004936569:1,645,780...1,653,526
Ensembl chrNW_004936569:1,650,088...1,653,522 		JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,635,958...1,645,600
Ensembl chrNW_004936569:1,635,836...1,645,815 		JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:869,695...876,239 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 chrNW_004936569:1,381,101...1,383,593
Ensembl chrNW_004936569:1,381,262...1,382,365 		JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,449,654...1,462,582 JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,023,057...1,048,968
Ensembl chrNW_004936569:1,022,979...1,049,136 		JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,587,164...1,592,857
Ensembl chrNW_004936569:1,586,286...1,592,857 		JBrowse link
G Cryba2 crystallin beta A2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,410,634...1,413,735
Ensembl chrNW_004936569:1,410,450...1,413,888 		JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:901,357...905,149
Ensembl chrNW_004936569:900,439...903,622 		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 chrNW_004936569:1,807,902...1,814,936
Ensembl chrNW_004936569:1,807,805...1,815,562 		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 chrNW_004936569:1,689,926...1,697,179
Ensembl chrNW_004936569:1,689,507...1,698,954 		JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,770,958...1,780,224
Ensembl chrNW_004936569:1,770,936...1,780,507 		JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,402,513...1,408,699
Ensembl chrNW_004936569:1,402,513...1,406,067 		JBrowse link
G Glb1l galactosidase beta 1 like ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,653,482...1,663,978
Ensembl chrNW_004936569:1,648,673...1,663,956 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,474,693...1,480,562
Ensembl chrNW_004936569:1,474,665...1,480,568 		JBrowse link
G Ldb3 LIM domain binding 3 ISO OMIM:601419 MouseDO NCBI chrNW_004936804:196,592...259,168
Ensembl chrNW_004936804:196,598...259,168 		JBrowse link
G LOC101961358 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,104,493...1,108,708
Ensembl chrNW_004936569:1,104,549...1,108,708 		JBrowse link
G LOC101963150 sterol 26-hydroxylase, mitochondrial ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,213,700...1,250,181
Ensembl chrNW_004936569:1,213,573...1,250,589 		JBrowse link
G Nhej1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,494,783...1,578,587
Ensembl chrNW_004936569:1,495,446...1,578,590 		JBrowse link
G Plcd4 phospholipase C delta 4 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,058,092...1,097,662
Ensembl chrNW_004936569:1,058,611...1,099,577 		JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:799,963...865,462
Ensembl chrNW_004936569:799,926...865,700 		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 chrNW_004936569:1,258,678...1,266,925
Ensembl chrNW_004936569:1,259,105...1,266,925 		JBrowse link
G Ptprn protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,698,718...1,717,639
Ensembl chrNW_004936569:1,696,059...1,717,744 		JBrowse link
G Resp18 regulated endocrine specific protein 18 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,731,756...1,737,679 JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,593,091...1,599,745
Ensembl chrNW_004936569:1,593,085...1,599,437 		JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,109,279...1,115,736
Ensembl chrNW_004936569:1,108,207...1,115,949 		JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs ClinVar PMID:25741868 NCBI chrNW_004936555:5,966,610...5,982,083
Ensembl chrNW_004936555:5,979,417...5,982,011 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:888,309...895,991
Ensembl chrNW_004936569:887,742...895,977 		JBrowse link
G Slc23a3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,578,977...1,585,903
Ensembl chrNW_004936569:1,578,993...1,585,454 		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 chrNW_004936672:1,686,070...1,838,315
Ensembl chrNW_004936672:1,685,734...1,838,315 		JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,821,125...1,877,006
Ensembl chrNW_004936569:1,821,143...1,876,156 		JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,664,031...1,667,648
Ensembl chrNW_004936569:1,663,634...1,668,521 		JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,115,790...1,143,450
Ensembl chrNW_004936569:1,115,768...1,143,370 		JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:803,154...820,000
Ensembl chrNW_004936569:800,760...820,271 		JBrowse link
G Ttll4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,153,376...1,201,704
Ensembl chrNW_004936569:1,153,447...1,194,269 		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 chrNW_004936509:7,733,426...7,999,503 JBrowse link
G Tuba4a tubulin alpha 4a ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,668,265...1,672,532
Ensembl chrNW_004936569:1,668,878...1,672,514 		JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:939,147...1,022,920
Ensembl chrNW_004936569:943,760...1,022,956 		JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:914,511...938,481
Ensembl chrNW_004936569:914,512...938,608 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,309,140...1,321,923
Ensembl chrNW_004936569:1,309,106...1,321,931 		JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,290,061...1,302,672
Ensembl chrNW_004936569:1,290,052...1,302,691 		JBrowse link
G Zfand2b zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,625,712...1,628,533
Ensembl chrNW_004936569:1,625,374...1,632,642 		JBrowse link
G Znf142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chrNW_004936569:1,084,981...1,103,932 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: PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR		 OMIM
ClinVar		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:17576681 More... NCBI chrNW_004936490:16,671,176...16,694,552
Ensembl chrNW_004936490:16,668,575...16,694,615 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14615
    physical disorder 4887
      congenital heart disease 1340
        arrhythmogenic right ventricular cardiomyopathy 119
          Naxos disease + 4
          arrhythmogenic right ventricular dysplasia 1 9
          arrhythmogenic right ventricular dysplasia 10 3
          arrhythmogenic right ventricular dysplasia 11 7
          arrhythmogenic right ventricular dysplasia 12 1
          arrhythmogenic right ventricular dysplasia 13 2
          arrhythmogenic right ventricular dysplasia 14 1
          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 4
          arrhythmogenic right ventricular dysplasia 9 13
          catecholaminergic polymorphic ventricular tachycardia 1 23
          myofibrillar myopathy 1 44
Path 2
Term Annotations click to browse term
  disease 14615
    disease of anatomical entity 14320
      respiratory system disease 4634
        thoracic disease 3566
          heart disease 3042
            cardiomyopathy 1278
              intrinsic cardiomyopathy 950
                arrhythmogenic right ventricular cardiomyopathy 119
                  Naxos disease + 4
                  arrhythmogenic right ventricular dysplasia 1 9
                  arrhythmogenic right ventricular dysplasia 10 3
                  arrhythmogenic right ventricular dysplasia 11 7
                  arrhythmogenic right ventricular dysplasia 12 1
                  arrhythmogenic right ventricular dysplasia 13 2
                  arrhythmogenic right ventricular dysplasia 14 1
                  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 4
                  arrhythmogenic right ventricular dysplasia 9 13
                  catecholaminergic polymorphic ventricular tachycardia 1 23
                  myofibrillar myopathy 1 44
paths to the root