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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:A congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into the RIGHT VENTRICLE wall and loss of myocardial cells. Primary injuries usually are at the free wall of right ventricular and right atria resulting in ventricular and supraventricular arrhythmias.
Synonyms:exact_synonym: ARVC;   ARVD;   ARVD-C;   Arrhythmogenic Right Ventricular Cardiomyopathy Dysplasia;   Arrhythmogenic Right Ventricular Dysplasia;   CARDIOMYOPATHY, ARVC;   Right ventricular cardiomyopathy
 primary_id: MESH:D019571
 alt_id: RDO:0004313
 xref: NCI:C84571;   OMIM:PS107970;   ORDO:217656;   ORDO:247
For additional species annotation, visit the Alliance of Genome Resources.


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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: Cardiomyopathy, ARVC
ClinVar PMID:20890277, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532 NCBI chrNW_004936548:4,983,461...5,110,693 JBrowse link
G Actn2 actinin alpha 2 ISO DNA:polymorphism: :
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
RGD
ClinVar
PMID:11078270, PMID:25741868 RGD:13506947 NCBI chrNW_004936484:16,186,844...16,248,394 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 JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chrNW_004936563:3,520,195...4,170,716 JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, arrhythmogenic right ventricular dysplasia ClinVar PMID:21898660, PMID:23861362, PMID:25741868, PMID:28492532, PMID:29382405 NCBI chrNW_004936486:8,985,871...9,007,461 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 JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004936520:8,951,994...9,164,039 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 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 JBrowse link
G Des desmin ISO DNA:mutation:cds:c.1203G>C (p.E401D)(human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
RGD
ClinVar
PMID:24033266, PMID:25179549, PMID:25741868, PMID:28492532, PMID:29212896 RGD:13525009 NCBI chrNW_004936569:1,807,902...1,814,936 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 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar PMID:7971964, PMID:17033975, PMID:17186466, PMID:17963498, PMID:18382419, PMID:18678517, PMID:18957847, PMID:19863551, PMID:20031616, PMID:20031617, PMID:20197793, PMID:20400443, PMID:20716751, PMID:20829228, PMID:20857253, PMID:21062920, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21859740, PMID:23147450, PMID:23299917, PMID:23396983, PMID:23514727, PMID:23757202, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24503780, PMID:24704780, PMID:24967631, PMID:25163546, PMID:25351510, PMID:25447171, PMID:25569433, PMID:25637381, PMID:25741868, PMID:26138720, PMID:26656175, PMID:26743238, PMID:27153395, PMID:28255936, PMID:28471438, PMID:28492532, PMID:28798025, PMID:29367541, PMID:29802319, PMID:30311386, PMID:31333075, PMID:31568572 NCBI chrNW_004936682:2,057,331...2,091,034 JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:2040044, PMID:16025435, PMID:16505173, PMID:16773573, PMID:16774985, PMID:17105751, PMID:17372169, PMID:18382419, PMID:18632414, PMID:18678517, PMID:18813333, PMID:19039334, PMID:19151369, PMID:19569224, PMID:19863551, PMID:20031616, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20197793, PMID:20400443, PMID:20603720, PMID:20708101, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21859740, PMID:22000064, PMID:22214898, PMID:23071725, PMID:23299917, PMID:23381804, PMID:23514727, PMID:23671136, PMID:23810883, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23871674, PMID:23871885, PMID:23889974, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24082139, PMID:24238504, PMID:24436435, PMID:24503780, PMID:24704780, PMID:25087486, PMID:25172079, PMID:25213555, PMID:25332820, PMID:25445213, PMID:25525159, PMID:25637381, PMID:25741868, PMID:25765472, PMID:25820315, PMID:26138720, PMID:26230511, PMID:26899768, PMID:27194543, PMID:27532257, PMID:27930701, PMID:28255936, PMID:28283360, PMID:28341588, PMID:28471438, PMID:28492532, PMID:28578331, PMID:28818065, PMID:29062102, PMID:29178656, PMID:30311386, PMID:30454721, PMID:30790397, PMID:31333075, PMID:31568572 NCBI chrNW_004936682:1,676,301...1,725,132 JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
RGD
ClinVar
PMID:10395892, PMID:10594734, PMID:11063735, PMID:12875771, PMID:15941723, PMID:16628197, PMID:16774985, PMID:16917092, PMID:18382419, PMID:18632414, PMID:19095136, PMID:19279339, PMID:19358943, PMID:19558499, PMID:19863551, PMID:19924139, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20400443, PMID:20716751, PMID:20864495, PMID:21062920, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21756917, PMID:21859740, PMID:22555271, PMID:22949226, PMID:23137101, PMID:23292937, PMID:23299917, PMID:23381804, PMID:23514727, PMID:23810894, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24503780, PMID:24704780, PMID:25225338, PMID:25227139, PMID:25351510, PMID:25525159, PMID:25569433, PMID:25616645, PMID:25637381, PMID:25661095, PMID:25693453, PMID:25741868, PMID:26230511, PMID:26332594, PMID:26498160, PMID:26569459, PMID:26585738, PMID:26656175, PMID:26850880, PMID:26899768, PMID:27097650, PMID:27153395, PMID:27435932, PMID:27532257, PMID:27831900, PMID:28074886, PMID:28087426, PMID:28254189, PMID:28416588, PMID:28473349, PMID:28492532, PMID:28527814, PMID:28588093, PMID:28759816, PMID:28798025, PMID:29062697, PMID:29253866, PMID:29892087, PMID:30311386 RGD:1580890 NCBI chrNW_004936534:5,029,008...5,076,467 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 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 JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar NCBI chrNW_004936488:5,011,792...5,090,980 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 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: Cardiomyopathy, ARVC
RGD
ClinVar
PMID:23178689, PMID:24033266, PMID:24884844, PMID:25741868, PMID:28098346, PMID:28492532 RGD:11352402 NCBI chrNW_004936490:16,671,176...16,694,552 JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:9328483, PMID:9354783, PMID:9354802, PMID:9445165, PMID:10400998, PMID:10428953, PMID:10973849, PMID:11320260, PMID:11874988, PMID:12566567, PMID:15840476, PMID:16818210, PMID:19008479, PMID:19340287, PMID:19521339, PMID:19716085, PMID:22166941, PMID:22581653, PMID:23124029, PMID:23510998, PMID:23631430, PMID:24033266, PMID:24400172, PMID:24561134, PMID:24606995, PMID:25637381, PMID:25741868, PMID:26187847, PMID:28176637, PMID:28492532 NCBI chrNW_004936500:7,998,464...8,007,848 JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:15176425, PMID:16244680, PMID:22402334, PMID:22581653, PMID:25741868, PMID:28492532 NCBI chrNW_004936527:6,380,222...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 PMID:24033266, PMID:25741868, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chrNW_004936679:803,131...938,022 JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:23861362, PMID:24033266, PMID:25741868 NCBI chrNW_004936804:196,592...259,168 JBrowse link
G Lmna lamin A/C ISO DNA:duplication:cds:c.418_438dup (human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
RGD
ClinVar
PMID:22224630, PMID:22266370, PMID:22464770, PMID:23183350, PMID:23853504, PMID:24033266, PMID:24503780, PMID:24846508, PMID:25741868, PMID:25837155, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27884249, PMID:28492532, PMID:29149195, PMID:29237675, PMID:30165862, PMID:30311386, PMID:30402260, PMID:30765282 RGD:11056513 NCBI chrNW_004936580:5,374,208...5,395,442 JBrowse link
G LOC101972165 myosin-7 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:23861362, PMID:24033266, PMID:24093860, PMID:24793961, PMID:25031304, PMID:25351510, PMID:25741868, PMID:27247418, PMID:27532257, PMID:28492532, PMID:28640247, PMID:28771489, PMID:29875424, PMID:30297972 NCBI chrNW_004936722:967,443...991,530 JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:23861362, PMID:25741868, PMID:28492532, PMID:28611029 NCBI chrNW_004936558:3,746,227...3,753,576 JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chrNW_004936672:1,351,053...1,481,954 JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936521:10,050,638...10,142,395 JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
RGD
ClinVar
PMID:189621, PMID:2412583, PMID:15489853, PMID:16101641, PMID:16415378, PMID:16549640, PMID:16567567, PMID:16774985, PMID:16893920, PMID:17010805, PMID:17372169, PMID:17521752, PMID:17556197, PMID:18382419, PMID:18554203, PMID:18662195, PMID:19084810, PMID:19095136, PMID:19279339, PMID:19302745, PMID:19358943, PMID:19427443, PMID:19533476, PMID:19569224, PMID:19863551, PMID:19880068, PMID:19955750, PMID:20031616, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20197793, PMID:20400443, PMID:20525856, PMID:20646679, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:21062920, PMID:21301620, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21822014, PMID:21859740, PMID:22019812, PMID:22035158, PMID:22036071, PMID:22177269, PMID:22214898, PMID:22781308, PMID:23137101, PMID:23178689, PMID:23270881, PMID:23299917, PMID:23347029, PMID:23514727, PMID:23671136, PMID:23810883, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23871674, PMID:23871885, PMID:23889974, PMID:23911551, PMID:23973953, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24200904, PMID:24200905, PMID:24352520, PMID:24503780, PMID:24558114, PMID:24585727, PMID:24704780, PMID:24784157, PMID:24832006, PMID:24967631, PMID:25087486, PMID:25163546, PMID:25332820, PMID:25351510, PMID:25445213, PMID:25447171, PMID:25525159, PMID:25616645, PMID:25637381, PMID:25676813, PMID:25741868, PMID:25741869, PMID:25765472, PMID:25820315, PMID:25825243, PMID:25857910, PMID:25979592, PMID:26264440, PMID:26332594, PMID:26406308, PMID:26498160, PMID:26656175, PMID:26676851, PMID:26743238, PMID:26850880, PMID:27153395, PMID:27194543, PMID:27335691, PMID:27532257, PMID:27727376, PMID:28177452, PMID:28253841, PMID:28255936, PMID:28301460, PMID:28341588, PMID:28431057, PMID:28471438, PMID:28492532, PMID:28518168, PMID:28588093, PMID:28611399, PMID:28705875, PMID:28807990, PMID:29099038, PMID:29128982, PMID:29178656, PMID:29288195, PMID:29582136, PMID:29802319, PMID:29940860, PMID:29997227, PMID:30311386, PMID:30354609, PMID:30445427, PMID:30562116, PMID:30615648, PMID:30656044, PMID:30677492, PMID:30764827, PMID:30765282, PMID:30790397, PMID:31333075, PMID:31539150, PMID:31568572, PMID:31638835 RGD:1580872, RGD:1580873 NCBI chrNW_004936607:3,458,406...3,530,066 JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004936668:2,602,261...2,687,903 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 PMID:23396983, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26498160, PMID:26656175, PMID:27296017, PMID:28492532, PMID:30775854 NCBI chrNW_004936486:1,472,170...1,652,314 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:8589694, PMID:11159936, PMID:12093772, PMID:16769042, PMID:18326664, PMID:19709828, PMID:19926015, PMID:21315846, PMID:22677073, PMID:23757202, PMID:23861362, PMID:24025405, PMID:24033266, PMID:24447446, PMID:24558114, PMID:24981977, PMID:25351510, PMID:25467552, PMID:25637381, PMID:25741868, PMID:25925909, PMID:26112015, PMID:26189708, PMID:27650965, PMID:28087566, PMID:28404607, PMID:28492532 RGD:1578810, RGD:1599243 NCBI chrNW_004936484:15,402,488...15,825,410 JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO protein:altered expression:ventricle
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
RGD
ClinVar
PMID:10973849, PMID:12354768, PMID:12820704, PMID:14523039, PMID:15466642, PMID:15840476, PMID:15840483, PMID:15851227, PMID:16325048, PMID:16414944, PMID:16540748, PMID:17161064, PMID:17210839, PMID:18071069, PMID:18361072, PMID:18452873, PMID:19412328, PMID:19841300, PMID:20129283, PMID:20403459, PMID:20539757, PMID:20875080, PMID:22373669, PMID:22378279, PMID:22581653, PMID:23008441, PMID:23098067, PMID:23178689, PMID:23503384, PMID:23631430, PMID:23805106, PMID:23861362, PMID:24033266, PMID:24653702, PMID:25163546, PMID:25351510, PMID:25741868, PMID:25829473, PMID:25904541, PMID:26066609, PMID:26159999, PMID:26209461, PMID:26467025, PMID:26633542, PMID:26749013, PMID:27041150, PMID:27287068, PMID:28069705, PMID:28265756, PMID:28492532, PMID:28781330, PMID:29032884, PMID:29574140, PMID:30084490, PMID:31333075, PMID:31568572 RGD:11352402 NCBI 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 JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:17143282, PMID:17143285, PMID:17586837, PMID:20981092, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004936508:12,162,553...12,281,812 JBrowse link
G Tgfb3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
RGD
ClinVar
PMID:7951245, PMID:23861362, PMID:25637381, PMID:25741868, PMID:28492532 RGD:1578811 NCBI chrNW_004936488:4,986,712...5,008,728 JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
RGD
ClinVar
PMID:10631146, PMID:18313022, PMID:18414213, PMID:19434073, PMID:20010364, PMID:21047201, PMID:21214875, PMID:22458570, PMID:22725725, PMID:22992668, PMID:23400628, PMID:23671136, PMID:23810883, PMID:23812740, PMID:23861362, PMID:24033266, PMID:24125834, PMID:24598986, PMID:25343256, PMID:25741868, PMID:26467025, PMID:26513349, PMID:27153395, PMID:28448657, PMID:28471438, PMID:28491673, PMID:28492532, PMID:29040414, PMID:29980933, PMID:30700137 RGD:1579676 NCBI chrNW_004936602:104,424...113,692 JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:23861362, PMID:24033266, PMID:24375709, PMID:25741868, PMID:28074886, PMID:28492532, PMID:30327538 NCBI chrNW_004936492:14,972,391...15,000,115 JBrowse link
G Trpm4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:21887725, PMID:25741868, PMID:26820365, PMID:28492532, PMID:30391667 NCBI chrNW_004936664:3,093,258...3,124,473 JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:18414213, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25016126, PMID:25589632, PMID:25741868, PMID:26467025, PMID:26498160, PMID:28492532, PMID:28750076, PMID:28857138, PMID:30311386 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: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:18414213, PMID:19434073, PMID:21047201, PMID:22992668, PMID:23400628, PMID:25741868, PMID:28448657 NCBI chrNW_004936602:118,173...139,884 JBrowse link
arrhythmogenic right ventricular dysplasia 1 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 1 ClinVar PMID:17105751, PMID:18382419, PMID:18678517, PMID:19039334, PMID:19569224, PMID:20031616, PMID:20603720, PMID:20857253, PMID:21397041, PMID:21606390, PMID:21606396, PMID:23299917, PMID:23671136, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24082139, PMID:24704780, PMID:25332820, PMID:25445213, PMID:25637381, PMID:25741868, PMID:26230511, PMID:28492532 NCBI chrNW_004936682:1,676,301...1,725,132 JBrowse link
G LOC101957084 plectin ISO 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 JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25637381 NCBI chrNW_004936484:15,402,488...15,825,410 JBrowse link
G Tgfb3 transforming growth factor beta 3 ISO OMIM NCBI chrNW_004936488:4,986,712...5,008,728 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 OMIM NCBI chrNW_004936682:1,676,301...1,725,132 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 ClinVar PMID:28492532 NCBI chrNW_004936682:1,628,489...1,635,495 JBrowse link
arrhythmogenic right ventricular dysplasia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc2 desmocollin 2 ISO OMIM NCBI chrNW_004936682:2,057,331...2,091,034 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 OMIM NCBI chrNW_004936490:16,671,176...16,694,552 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 OMIM 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, familial, 13 ClinVar NCBI chrNW_004936925:330,424...492,052 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 OMIM NCBI chrNW_004936550:6,885,484...7,067,001 JBrowse link
arrhythmogenic right ventricular dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr2 ryanodine receptor 2 ISO OMIM NCBI chrNW_004936484:15,402,488...15,825,410 JBrowse link
arrhythmogenic right ventricular dysplasia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO OMIM NCBI chrNW_004936602:104,424...113,692 JBrowse link
arrhythmogenic right ventricular dysplasia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO OMIM NCBI chrNW_004936534:5,029,008...5,076,467 JBrowse link
arrhythmogenic right ventricular dysplasia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Des desmin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chrNW_004936569:1,807,902...1,814,936 JBrowse link
G Dnm1l dynamin 1 like ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507, PMID:28492532 NCBI chrNW_004936607:3,576,357...3,632,423 JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar NCBI chrNW_004936682:2,057,331...2,091,034 JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868, PMID:25820315, PMID:28492532 NCBI chrNW_004936534:5,029,008...5,076,467 JBrowse link
G Fgd4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507, PMID:28492532 NCBI chrNW_004936607:3,675,217...3,796,329 JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chrNW_004936580:5,374,208...5,395,442 JBrowse link
G LOC101972165 myosin-7 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar NCBI chrNW_004936722:967,443...991,530 JBrowse link
G Pkp2 plakophilin 2 ISO OMIM NCBI chrNW_004936607:3,458,406...3,530,066 JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar PMID:14519435, PMID:24033266, PMID:24503780, PMID:25741868, PMID:27532257, PMID:28492532 NCBI chrNW_004936527:6,907,723...7,168,222 JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chrNW_004936484:15,402,488...15,825,410 JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26567375, PMID:28492532 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 cardiomyopathy, type 9 ClinVar PMID:27066507, PMID:28492532 NCBI chrNW_004936607:3,565,333...3,590,499 JBrowse link
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO OMIM NCBI chrNW_004936534:5,029,008...5,076,467 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 OMIM NCBI chrNW_004936534:5,029,008...5,076,467 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 (Langereis blood group) ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,628,649...1,635,599 JBrowse link
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,645,780...1,653,526 JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,635,958...1,645,600 JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,381,101...1,383,593 JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,023,057...1,048,968 JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,587,164...1,592,857 JBrowse link
G Cryba2 crystallin beta A2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,410,634...1,413,735 JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:901,357...905,149 JBrowse link
G Des desmin ISO OMIM NCBI chrNW_004936569:1,807,902...1,814,936 JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,689,926...1,697,179 JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,770,958...1,780,224 JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,402,513...1,408,699 JBrowse link
G Glb1l galactosidase beta 1 like ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,653,482...1,663,978 JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,474,693...1,480,562 JBrowse link
G LOC101959351 cilia- and flagella-associated protein 65 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,449,654...1,462,582 JBrowse link
G LOC101961358 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,104,493...1,108,708 JBrowse link
G LOC101963150 sterol 26-hydroxylase, mitochondrial ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,213,700...1,250,181 JBrowse link
G Nhej1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,494,783...1,578,587 JBrowse link
G Plcd4 phospholipase C delta 4 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,058,092...1,097,662 JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:799,963...865,462 JBrowse link
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,258,678...1,266,925 JBrowse link
G Ptprn protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,698,718...1,717,639 JBrowse link
G Resp18 regulated endocrine specific protein 18 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,593,091...1,599,745 JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,109,279...1,115,736 JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:888,309...895,991 JBrowse link
G Slc23a3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,578,977...1,585,903 JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,664,031...1,667,648 JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,115,790...1,143,450 JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:803,154...820,000 JBrowse link
G Ttll4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,153,376...1,201,704 JBrowse link
G Tuba4a tubulin alpha 4a ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,668,265...1,672,532 JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:939,147...1,022,920 JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:914,511...938,481 JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,309,140...1,321,923 JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,290,061...1,302,672 JBrowse link
G Zfand2b zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936569:1,625,712...1,628,533 JBrowse link
G Znf142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 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 OMIM NCBI chrNW_004936490:16,671,176...16,694,552 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11938
    Developmental Diseases 8506
      congenital heart disease 979
        arrhythmogenic right ventricular cardiomyopathy 87
          Arrhythmogenic Right Ventricular Dysplasia 14 1
          Naxos disease + 2
          arrhythmogenic right ventricular dysplasia 1 4
          arrhythmogenic right ventricular dysplasia 10 2
          arrhythmogenic right ventricular dysplasia 11 1
          arrhythmogenic right ventricular dysplasia 12 1
          arrhythmogenic right ventricular dysplasia 13 2
          arrhythmogenic right ventricular dysplasia 2 1
          arrhythmogenic right ventricular dysplasia 3 0
          arrhythmogenic right ventricular dysplasia 4 0
          arrhythmogenic right ventricular dysplasia 5 1
          arrhythmogenic right ventricular dysplasia 6 0
          arrhythmogenic right ventricular dysplasia 8 1
          arrhythmogenic right ventricular dysplasia 9 12
          myofibrillar myopathy 1 39
Path 2
Term Annotations click to browse term
  disease 11938
    Developmental Diseases 8506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7484
        Congenital Abnormalities 4446
          Cardiovascular Abnormalities 1035
            congenital heart disease 979
              arrhythmogenic right ventricular cardiomyopathy 87
                Arrhythmogenic Right Ventricular Dysplasia 14 1
                Naxos disease + 2
                arrhythmogenic right ventricular dysplasia 1 4
                arrhythmogenic right ventricular dysplasia 10 2
                arrhythmogenic right ventricular dysplasia 11 1
                arrhythmogenic right ventricular dysplasia 12 1
                arrhythmogenic right ventricular dysplasia 13 2
                arrhythmogenic right ventricular dysplasia 2 1
                arrhythmogenic right ventricular dysplasia 3 0
                arrhythmogenic right ventricular dysplasia 4 0
                arrhythmogenic right ventricular dysplasia 5 1
                arrhythmogenic right ventricular dysplasia 6 0
                arrhythmogenic right ventricular dysplasia 8 1
                arrhythmogenic right ventricular dysplasia 9 12
                myofibrillar myopathy 1 39
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.