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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


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, sub-family C member 9 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:20890277 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 6:142,533,592...142,648,472
Ensembl chr 6:142,533,588...142,648,041 		JBrowse link
G Actn2 actinin alpha 2 ISO DNA:polymorphism: :
ClinVar Annotator: match by term: Cardiomyopathy, ARVC		 ClinVar
RGD		 PMID:25224718 PMID:25741868 PMID:28492532 PMID:31956495 PMID:11078270 RGD:13506947 NCBI chr13:12,284,312...12,355,613
Ensembl chr13:12,284,312...12,355,641 		JBrowse link
G AI597479 expressed sequence AI597479 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 1:43,137,870...43,155,106
Ensembl chr 1:43,137,870...43,155,107 		JBrowse link
G Akap9 A kinase anchor protein 9 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 5:3,977,410...4,130,204
Ensembl chr 5:3,978,054...4,131,310 		JBrowse link
G Ank2 ankyrin 2, brain ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:28492532 NCBI chr 3:126,715,256...127,293,996
Ensembl chr 3:126,715,261...127,292,999 		JBrowse link
G Bag3 BCL2-associated athanogene 3 ISO ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia ClinVar PMID:21898660 PMID:23861362 PMID:25741868 PMID:28492532 PMID:29382405 More... NCBI chr 7:128,125,307...128,148,705
Ensembl chr 7:128,125,340...128,148,705 		JBrowse link
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362 PMID:25447171 PMID:25661095 PMID:25741868 PMID:28492532 NCBI chr 6:118,564,201...119,174,345
Ensembl chr 6:118,564,201...119,173,851 		JBrowse link
G Cacnb2 calcium channel, voltage-dependent, beta 2 subunit ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:14,608,672...14,993,622
Ensembl chr 2:14,607,899...14,992,719 		JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:17655857 PMID:23861362 PMID:28492532 NCBI chr 8:73,178,020...73,197,638
Ensembl chr 8:73,178,020...73,197,714 		JBrowse link
G Cdh2 cadherin 2 ISO DNA:missense mutations:cds:c.686A>C(p.Q229P), c.1219G>A (p.D407N)(human)
DNA:mutation:cds:c.1219G>A(p.D407N)(human)		 RGD PMID:28280076 PMID:28326674 RGD:13524622, RGD:13524623 NCBI chr18:16,721,934...16,942,303
Ensembl chr18:16,721,934...16,942,303 		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 chr10:95,010,601...95,160,000
Ensembl chr10:95,010,608...95,159,995 		JBrowse link
G Des desmin ISO
IEP		 DNA:mutation:cds:c.1203G>C (p.E401D)(human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC
protein:decreased expression:cardiac ventricle (mouse)		 ClinVar
RGD		 PMID:10717012 PMID:10905661 PMID:14991347 PMID:15050448 PMID:21262226 More... RGD:13525009, RGD:265253172 NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223 		JBrowse link
G Dmd dystrophin, muscular dystrophy ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:81,858,244...84,248,656
Ensembl chr  X:81,992,476...84,249,747 		JBrowse link
G Dsc2 desmocollin 2 susceptibility IEP
ISO		 protein:decreased expression:myocardium of ventricle (mouse)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia
protein:decreased expression:cardiac ventricle (mouse)
protein:decreased expression:heart right ventricle (human)
DNA:SNP:exon 11: c.1660C>T, p.Gln554X (human)		 ClinVar
RGD		 PMID:205460 PMID:1245073 PMID:7971964 PMID:9536098 PMID:16199547 More... RGD:243065269, RGD:265253172, RGD:243065273, RGD:243065272 NCBI chr18:20,163,690...20,192,611
Ensembl chr18:20,163,690...20,192,611 		JBrowse link
G Dsg2 desmoglein 2 susceptibility
severity
ameliorates		 ISO
IAGP
IMP		 ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia
DNA:mutation:cds: p.Phe531Cys(human)
protein:decreased expression:septum, heart left ventricle, heart right ventricle (human)		 ClinVar
MouseDO
RGD		 PMID:271711 PMID:2040044 PMID:2569966 PMID:9536098 PMID:12586364 More... RGD:401851081, RGD:401851076, RGD:401851071, RGD:401851070, RGD:11087399, RGD:243065273 NCBI chr18:20,691,247...20,737,583
Ensembl chr18:20,691,131...20,737,578 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Right ventricular cardiomyopathy ClinVar
RGD		 PMID:491020 PMID:9536098 PMID:10395892 PMID:10594734 PMID:11063735 More... RGD:1580890 NCBI chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553 		JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 1:43,162,233...43,237,501
Ensembl chr 1:43,162,234...43,236,144 		JBrowse link
G Flnc filamin C, gamma 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 chr 6:29,433,150...29,461,888
Ensembl chr 6:29,433,255...29,461,882 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO
IEP		 protein:altered expression:ventricle
protein:decreased expression:cardiac ventricle (mouse)
protein:decreased expression:buccal mucosa		 RGD PMID:23178689 PMID:27412010 PMID:26850880 RGD:11352402, RGD:265253172, RGD:13592599 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G Hcn4 hyperpolarization-activated, cyclic nucleotide-gated K+ 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 9:58,730,232...58,770,458
Ensembl chr 9:58,730,695...58,770,458 		JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chr12:86,129,335...86,209,233
Ensembl chr12:86,129,315...86,209,233 		JBrowse link
G Il6ra interleukin 6 receptor, alpha ISO protein:increased expression:serum RGD PMID:21859801 RGD:10402826 NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503 		JBrowse link
G Jup junction plakoglobin ISO protein:altered expression:ventricle
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia		 ClinVar
RGD		 PMID:24033266 PMID:24884844 PMID:25741868 PMID:28098346 PMID:28492532 More... RGD:11352402 NCBI chr11:100,259,682...100,288,639
Ensembl chr11:100,259,784...100,288,589 		JBrowse link
G Kcne1 potassium voltage-gated channel, Isk-related subfamily, member 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 chr16:92,142,889...92,156,356
Ensembl chr16:92,142,870...92,156,356 		JBrowse link
G Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), member 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:15176425 PMID:16244680 PMID:22402334 PMID:22581653 PMID:25741868 More... NCBI chr 5:24,524,583...24,556,671
Ensembl chr 5:24,524,587...24,556,602 		JBrowse link
G Lama4 laminin, 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 chr10:38,841,511...38,986,184
Ensembl chr10:38,841,511...38,986,184 		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 chr14:34,248,656...34,312,276
Ensembl chr14:34,248,560...34,310,639 		JBrowse link
G Lmna lamin A ISO DNA:duplication:cds:c.418_438dup (human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC		 ClinVar
RGD		 PMID:22224630 PMID:22266370 PMID:22464770 PMID:23183350 PMID:23853504 More... RGD:11056513 NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
G Mir130a microRNA 130a IMP RGD PMID:27834139 RGD:243065269 NCBI chr 2:84,571,459...84,571,522
Ensembl chr 2:84,571,459...84,571,522 		JBrowse link
G Mir320 microRNA 320 ISO miRNA:decreased expression:blood plasma (human) RGD PMID:28684747 RGD:155882549 NCBI chr14:70,680,950...70,681,031
Ensembl chr14:70,680,950...70,681,031 		JBrowse link
G Mybpc3 myosin binding protein C, cardiac ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:15519027 PMID:19574547 PMID:20474083 PMID:23690394 PMID:24033266 More... NCBI chr 2:90,948,459...90,966,862
Ensembl chr 2:90,948,489...90,966,861 		JBrowse link
G Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:28991257 PMID:29132927 NCBI chr14:55,179,378...55,205,553
Ensembl chr14:55,179,378...55,204,384 		JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta 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 chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083 		JBrowse link
G Myl2 myosin, light polypeptide 2, regulatory, cardiac, slow ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:28611029 PMID:35629155 NCBI chr 5:122,230,787...122,251,536
Ensembl chr 5:122,239,014...122,251,535 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:28492532 NCBI chr17:71,326,455...71,433,851
Ensembl chr17:71,309,628...71,433,851 		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 chr10:62,951,574...63,039,731
Ensembl chr10:62,951,574...63,039,731 		JBrowse link
G Pdlim3 PDZ and LIM domain 3 IAGP MouseDO NCBI chr 8:46,338,524...46,372,672
Ensembl chr 8:46,338,498...46,372,585 		JBrowse link
G Pkp2 plakophilin 2 ISO
IMP		 ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia		 ClinVar
RGD		 PMID:2163603 PMID:2412583 PMID:9536098 PMID:11790773 PMID:15489853 More... RGD:1580872, RGD:265253172, RGD:1580873 NCBI chr16:16,031,209...16,090,576
Ensembl chr16:16,031,182...16,090,576 		JBrowse link
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like IAGP MouseDO NCBI chr 7:19,093,639...19,112,465
Ensembl chr 7:19,093,674...19,112,458 		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 chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		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 chr19:53,649,422...53,855,514
Ensembl chr19:53,665,737...53,855,511 		JBrowse link
G Ryr2 ryanodine receptor 2, cardiac susceptibility ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Right ventricular cardiomyopathy ClinVar
RGD		 PMID:11159936 PMID:12093772 PMID:12459180 PMID:16769042 PMID:18326664 More... RGD:1599243 NCBI chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831 		JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha ISO protein:altered expression:ventricle
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia		 ClinVar
RGD		 PMID:10973849 PMID:11222472 PMID:12354768 PMID:12820704 PMID:14523039 More... RGD:11352402 NCBI chr 9:119,312,470...119,408,096
Ensembl chr 9:119,312,474...119,408,082 		JBrowse link
G Sgca sarcoglycan, alpha (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:94,853,603...94,867,153
Ensembl chr11:94,853,617...94,867,153 		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 chr17:80,701,181...80,787,882
Ensembl chr17:80,701,180...80,787,882 		JBrowse link
G Tax1bp3 Tax1 (human T cell leukemia virus type I) binding protein 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:25645515 PMID:25741868 PMID:32576985 NCBI chr11:73,067,909...73,072,872
Ensembl chr11:73,067,909...73,073,988 		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 chr12:86,103,517...86,125,815
Ensembl chr12:86,103,519...86,125,815 		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 6:91,450,689...91,465,445
Ensembl chr 6:91,450,685...91,465,445 		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 chr10:90,983,433...91,017,614
Ensembl chr10:90,983,433...91,017,177 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:21887725 PMID:25741868 PMID:26820365 PMID:28492532 PMID:30391667 More... NCBI chr 7:44,952,579...44,983,495
Ensembl chr 7:44,952,056...44,983,204 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Right ventricular cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:23396983 PMID:23861362 PMID:24033266 More... NCBI chr 2:76,534,324...76,812,901
Ensembl chr 2:76,534,324...76,812,891 		JBrowse link
G Xpc xeroderma pigmentosum, complementation group C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 NCBI chr 6:91,466,287...91,492,870
Ensembl chr 6:91,466,287...91,492,870 		JBrowse link
arrhythmogenic right ventricular dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:19863551 PMID:23299917 PMID:25163546 PMID:25637381 PMID:25741868 More... NCBI chr18:20,163,690...20,192,611
Ensembl chr18:20,163,690...20,192,611 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19569224 More... NCBI chr18:20,691,247...20,737,583
Ensembl chr18:20,691,131...20,737,578 		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 chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553 		JBrowse link
G Mybpc3 myosin binding protein C, cardiac ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:15519027 PMID:18533079 PMID:20414521 PMID:20624503 PMID:21415409 More... NCBI chr 2:90,948,459...90,966,862
Ensembl chr 2:90,948,489...90,966,861 		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 chr16:16,031,209...16,090,576
Ensembl chr16:16,031,182...16,090,576 		JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:76,055,174...76,115,578
Ensembl chr15:76,055,174...76,116,774 		JBrowse link
G Ryr2 ryanodine receptor 2, cardiac 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 chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12529708 PMID:15639475 PMID:16199547 PMID:23824657 PMID:23861362 More... NCBI chr12:86,103,517...86,125,815
Ensembl chr12:86,103,519...86,125,815 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chr 2:76,534,324...76,812,901
Ensembl chr 2:76,534,324...76,812,891 		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
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:610193		 OMIM
ClinVar
CTD
MouseDO		 PMID:271711 PMID:2040044 PMID:2569966 PMID:9536098 PMID:12586364 More... NCBI chr18:20,691,247...20,737,583
Ensembl chr18:20,691,131...20,737,578 		JBrowse link
G Prkar1a protein kinase, cAMP dependent regulatory, type I, alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 ClinVar PMID:25741868 NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482 		JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 ClinVar PMID:28492532 NCBI chr18:20,797,266...20,807,383
Ensembl chr18:20,798,337...20,807,378 		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 chr18:20,216,528...20,247,830
Ensembl chr18:20,217,241...20,247,928 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:205460 PMID:1245073 PMID:7971964 PMID:9536098 PMID:16199547 More... NCBI chr18:20,163,690...20,192,611
Ensembl chr18:20,163,690...20,192,611 		JBrowse link
G Dsg1a desmoglein 1 alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 ClinVar PMID:23911551 PMID:28492532 PMID:29038103 NCBI chr18:20,443,982...20,476,407
Ensembl chr18:20,443,868...20,476,407 		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 chr18:20,691,247...20,737,583
Ensembl chr18:20,691,131...20,737,578 		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 chr18:20,643,331...20,674,367
Ensembl chr18:20,643,331...20,680,516 		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 chr18:20,569,234...20,606,191
Ensembl chr18:20,569,232...20,604,878 		JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 ClinVar PMID:23911551 PMID:28492532 PMID:29038103 NCBI chr18:20,797,266...20,807,383
Ensembl chr18:20,798,337...20,807,378 		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
IAGP		 ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12
CTD Direct Evidence: marker/mechanism
OMIM:611528		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:17576681 More... NCBI chr11:100,259,682...100,288,639
Ensembl chr11:100,259,784...100,288,589 		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 chr10:63,265,877...64,841,174
Ensembl chr10:63,265,877...64,839,446 		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 chr10:63,764,276...63,926,034
Ensembl chr10:63,764,251...63,926,056 		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 chr18:16,721,934...16,942,303
Ensembl chr18:16,721,934...16,942,303 		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 IAGP OMIM:604400 MouseDO NCBI chr 9:119,956,832...119,961,435
Ensembl chr 9:119,956,755...119,961,435 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230648 PMID:18313022 More... NCBI chr 6:91,450,689...91,465,445
Ensembl chr 6:91,450,685...91,465,445 		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 chr13:38,529,098...38,684,283
Ensembl chr13:38,529,083...38,684,278 		JBrowse link
G Dsp desmoplakin ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:607450		 OMIM
ClinVar
CTD
MouseDO		 PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 More... NCBI chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553 		JBrowse link
G Snrnp48 small nuclear ribonucleoprotein 48 (U11/U12) ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 ClinVar PMID:28492532 NCBI chr13:38,388,880...38,411,639
Ensembl chr13:38,388,914...38,411,641 		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 chr 8:124,138,292...124,148,754
Ensembl chr 8:124,138,163...124,148,754 		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 chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223 		JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:27066507 PMID:28492532 NCBI chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar NCBI chr18:20,163,690...20,192,611
Ensembl chr18:20,163,690...20,192,611 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:2569966 PMID:16199547 PMID:16773573 PMID:17105751 PMID:19151369 More... NCBI chr18:20,691,247...20,737,583
Ensembl chr18:20,691,131...20,737,578 		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 chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553 		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 chr16:16,234,774...16,418,400
Ensembl chr16:16,234,781...16,418,413 		JBrowse link
G Lmna lamin A ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:25741868 NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
G Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:55,179,378...55,205,553
Ensembl chr14:55,179,378...55,204,384 		JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:25741868 NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2163603 PMID:2412583 PMID:9536098 PMID:11790773 PMID:15489853 More... NCBI chr16:16,031,209...16,090,576
Ensembl chr16:16,031,182...16,090,576 		JBrowse link
G Prkag2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 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 chr 5:25,067,733...25,311,576
Ensembl chr 5:25,067,742...25,305,640 		JBrowse link
G Ryr2 ryanodine receptor 2, cardiac ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:25741868 NCBI chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831 		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 chr 2:76,534,324...76,812,901
Ensembl chr 2:76,534,324...76,812,891 		JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:27066507 PMID:28492532 NCBI chr16:16,120,829...16,127,504
Ensembl chr16:16,120,829...16,127,504 		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 chr13:38,529,098...38,684,283
Ensembl chr13:38,529,083...38,684,278 		JBrowse link
G Dsp desmoplakin ISO
IAGP		 ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
OMIM:605676
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 More... NCBI chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553 		JBrowse link
G Snrnp48 small nuclear ribonucleoprotein 48 (U11/U12) ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr13:38,388,880...38,411,639
Ensembl chr13:38,388,914...38,411,641 		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 chr13:12,284,312...12,355,613
Ensembl chr13:12,284,312...12,355,641 		JBrowse link
G Ank2 ankyrin 2, brain 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 3:126,715,256...127,293,996
Ensembl chr 3:126,715,261...127,292,999 		JBrowse link
G Atp1a1 ATPase, Na+/K+ transporting, alpha 1 polypeptide ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 3:101,483,535...101,512,023
Ensembl chr 3:101,483,535...101,512,000 		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 chr12:100,165,694...100,176,083
Ensembl chr12:100,165,694...100,176,073 		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 chr 3:101,993,731...102,053,830
Ensembl chr 3:101,993,731...102,053,830 		JBrowse link
G Dmpk dystrophia myotonica-protein kinase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr 7:18,817,571...18,827,746
Ensembl chr 7:18,817,774...18,827,746 		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 chr18:20,691,247...20,737,583
Ensembl chr18:20,691,131...20,737,578 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 PMID:33552729 NCBI chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553 		JBrowse link
G Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), member 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr 5:24,524,583...24,556,671
Ensembl chr 5:24,524,587...24,556,602 		JBrowse link
G Lama4 laminin, alpha 4 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr10:38,841,511...38,986,184
Ensembl chr10:38,841,511...38,986,184 		JBrowse link
G Lmna lamin A 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 chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
G Mab21l3 mab-21-like 3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 3:101,720,392...101,743,601
Ensembl chr 3:101,720,392...101,756,275 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999 		JBrowse link
G Mybpc3 myosin binding protein C, cardiac ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28600387 NCBI chr 2:90,948,459...90,966,862
Ensembl chr 2:90,948,489...90,966,861 		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 3:101,917,425...101,922,808
Ensembl chr 3:101,917,392...101,922,808 		JBrowse link
G Ryr2 ryanodine receptor 2, cardiac ISO
IAGP		 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:604772		 OMIM
ClinVar
MouseDO		 PMID:285698 PMID:1817325 PMID:1992601 PMID:8589694 PMID:9536098 More... NCBI chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831 		JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha 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 chr 9:119,312,470...119,408,096
Ensembl chr 9:119,312,474...119,408,082 		JBrowse link
G Slc22a15 solute carrier family 22 (organic anion/cation transporter), member 15 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 3:101,763,084...101,831,769
Ensembl chr 3:101,763,092...101,831,769 		JBrowse link
G Tnni3k TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:25741868 NCBI chr 3:154,491,928...154,761,044
Ensembl chr 3:154,491,928...154,761,044 		JBrowse link
G Tpm1 tropomyosin 1, alpha ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:66,929,872...66,956,954
Ensembl chr 9:66,929,872...66,956,688 		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, 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 chr10:32,959,479...33,352,705
Ensembl chr10:32,956,550...33,352,705 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr 7:44,952,579...44,983,495
Ensembl chr 7:44,952,056...44,983,204 		JBrowse link
G Vangl1 VANGL planar cell polarity 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:102,060,899...102,112,012
Ensembl chr 3:102,060,899...102,112,009 		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 chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553 		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, sub-family B member 6 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:75,148,284...75,157,066
Ensembl chr 1:75,148,361...75,157,036 		JBrowse link
G Ankzf1 ankyrin repeat and zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:75,168,794...75,176,031
Ensembl chr 1:75,168,795...75,176,031 		JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:75,157,509...75,168,654
Ensembl chr 1:75,157,504...75,168,840 		JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,627,448...74,631,602
Ensembl chr 1:74,627,448...74,631,602 		JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,401,272...74,408,482
Ensembl chr 1:74,401,267...74,408,480 		JBrowse link
G Cdk5r2 cyclin dependent kinase 5, regulatory subunit 2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,894,188...74,896,891
Ensembl chr 1:74,894,093...74,896,891 		JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,941,230...74,974,785
Ensembl chr 1:74,941,230...74,974,758 		JBrowse link
G Cnot9 CCR4-NOT transcription complex, subunit 9 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,545,192...74,570,001
Ensembl chr 1:74,545,217...74,570,001 		JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:75,112,406...75,119,374
Ensembl chr 1:75,111,198...75,119,355 		JBrowse link
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,929,093...74,938,001
Ensembl chr 1:74,929,093...74,932,302 		JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,430,625...74,436,444
Ensembl chr 1:74,430,668...74,436,444 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,752,311...74,777,056
Ensembl chr 1:74,752,733...74,777,051 		JBrowse link
G Des desmin ISO
IAGP		 ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy | ClinVar Annotator: match by term: Myofibrillar myopathy 1
CTD Direct Evidence: marker/mechanism
OMIM:601419
protein:altered expression:cardiomyocyte:		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:5828910 PMID:7672786 PMID:8114783 PMID:9382102 PMID:9536098 More... RGD:13542086 NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223 		JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:75,213,039...75,222,336
Ensembl chr 1:75,213,050...75,222,336 		JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:75,285,209...75,294,648
Ensembl chr 1:75,284,540...75,294,634 		JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,920,660...74,924,632
Ensembl chr 1:74,920,668...74,924,578 		JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:75,174,178...75,187,460
Ensembl chr 1:75,174,880...75,187,457 		JBrowse link
G Ihh Indian hedgehog ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,984,474...74,990,831
Ensembl chr 1:74,984,474...74,990,831 		JBrowse link
G Ldb3 LIM domain binding 3 IAGP OMIM:601419 MouseDO NCBI chr14:34,248,656...34,312,276
Ensembl chr14:34,248,560...34,310,639 		JBrowse link
G LOC107075095 desmin upstream regulatory region ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar NCBI chr 1:75,316,102...75,337,584 JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,433,469...74,433,553
Ensembl chr 1:74,433,469...74,433,553 		JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,939,817...74,939,880
Ensembl chr 1:74,939,817...74,939,880 		JBrowse link
G Nhej1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:75,006,505...75,101,870
Ensembl chr 1:75,006,298...75,101,844 		JBrowse link
G Plcd4 phospholipase C, delta 4 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,581,175...74,605,137
Ensembl chr 1:74,582,047...74,606,953 		JBrowse link
G Pnkd paroxysmal nonkinesiogenic dyskinesia ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,323,757...74,392,851
Ensembl chr 1:74,324,089...74,392,853 		JBrowse link
G Prkag3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,778,062...74,788,623
Ensembl chr 1:74,778,081...74,788,380 		JBrowse link
G Ptprn protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:75,223,679...75,241,437
Ensembl chr 1:75,223,671...75,241,146 		JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:75,248,841...75,255,059
Ensembl chr 1:75,248,843...75,255,059 		JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:75,119,432...75,124,553
Ensembl chr 1:75,119,422...75,124,557 		JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,632,907...74,640,556
Ensembl chr 1:74,632,907...74,640,556 		JBrowse link
G Sftpc surfactant associated protein C ISO ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs ClinVar PMID:25741868 NCBI chr14:70,758,381...70,761,521
Ensembl chr14:70,758,389...70,761,521 		JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221 		JBrowse link
G Slc23a3 solute carrier family 23 (nucleobase transporters), member 3 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:75,102,185...75,112,113
Ensembl chr 1:75,102,185...75,110,534 		JBrowse link
G Smchd1 SMC hinge domain containing 1 ISO ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs ClinVar NCBI chr17:71,651,484...71,782,361
Ensembl chr17:71,651,484...71,782,338 		JBrowse link
G Speg SPEG complex locus ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:75,351,931...75,408,964
Ensembl chr 1:75,351,941...75,408,964 		JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:75,187,463...75,192,250
Ensembl chr 1:75,187,482...75,192,250 		JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,640,583...74,676,053
Ensembl chr 1:74,640,604...74,676,053 		JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,327,406...74,343,495
Ensembl chr 1:74,327,406...74,344,781 		JBrowse link
G Ttll4 tubulin tyrosine ligase-like family, member 4 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,700,804...74,740,991
Ensembl chr 1:74,700,904...74,742,889 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chr 2:76,534,324...76,812,901
Ensembl chr 2:76,534,324...76,812,891 		JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:75,190,867...75,197,905
Ensembl chr 1:75,190,872...75,196,509 		JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,474,669...74,583,447
Ensembl chr 1:74,474,670...74,583,443 		JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,448,543...74,474,719
Ensembl chr 1:74,448,535...74,474,718 		JBrowse link
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338 		JBrowse link
G Wnt6 wingless-type MMTV integration site family, member 6 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,793,499...74,824,481
Ensembl chr 1:74,811,051...74,824,481 		JBrowse link
G Zfand2b zinc finger, AN1 type domain 2B ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:75,145,290...75,148,270
Ensembl chr 1:75,145,290...75,148,273 		JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 1:74,605,490...74,627,308
Ensembl chr 1:74,604,286...74,627,405 		JBrowse link
Naxos disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease | ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:17576681 More... NCBI chr11:100,259,682...100,288,639
Ensembl chr11:100,259,784...100,288,589 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16230
    physical disorder 5230
      congenital heart disease 1410
        arrhythmogenic right ventricular cardiomyopathy 125
          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 14
          catecholaminergic polymorphic ventricular tachycardia 1 23
          myofibrillar myopathy 1 47
Path 2
Term Annotations click to browse term
  disease 16230
    disease of anatomical entity 15849
      respiratory system disease 5125
        thoracic disease 3953
          heart disease 3365
            cardiomyopathy 1449
              intrinsic cardiomyopathy 1025
                arrhythmogenic right ventricular cardiomyopathy 125
                  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 14
                  catecholaminergic polymorphic ventricular tachycardia 1 23
                  myofibrillar myopathy 1 47
paths to the root