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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. (DO)
Synonyms:exact_synonym: ARVC;   ARVD;   ARVD-C;   Arrhythmogenic Right Ventricular Cardiomyopathy Dysplasia;   Arrhythmogenic Right Ventricular Dysplasia;   CARDIOMYOPATHY, ARVC;   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;   MONDO:0016587;   NCI:C84571;   OMIM:PS107970;   ORDO:217656;   ORDO:247


show annotations for term's descendants           Sort by:
arrhythmogenic right ventricular cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:20890277 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Actn2 actinin alpha 2 ISO DNA:polymorphism: :
ClinVar Annotator: match by term: Cardiomyopathy, ARVC		 ClinVar
RGD		 PMID:25224718 PMID:25741868 PMID:28492532 PMID:31956495 PMID:11078270 RGD:13506947 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:28492532 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia ClinVar PMID:21898660 PMID:23861362 PMID:25741868 PMID:28492532 PMID:29382405 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:23861362 PMID:25447171 PMID:25661095 PMID:25741868 PMID:28492532 NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106 		JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:17655857 PMID:23861362 PMID:28492532 NCBI chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015 		JBrowse link
G Cdh2 cadherin 2 ISO DNA:missense mutations:cds:c.686A>C(p.Q229P), c.1219G>A (p.D407N)(human)
DNA:mutation:cds:c.1219G>A(p.D407N)(human)		 RGD PMID:28280076 PMID:28326674 RGD:13524622, RGD:13524623 NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167 		JBrowse link
G Des desmin ISO DNA:mutation:cds:c.1203G>C (p.E401D)(human)
protein:decreased expression:cardiac ventricle (mouse)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC		 ClinVar
RGD		 PMID:10717012 PMID:10905661 PMID:14991347 PMID:15050448 PMID:21262226 More... RGD:13525009, RGD:265253172 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dsc2 desmocollin 2 susceptibility ISO protein:decreased expression:myocardium of ventricle (mouse)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia
protein:decreased expression:cardiac ventricle (mouse)
protein:decreased expression:heart right ventricle (human)
DNA:SNP:exon 11: c.1660C>T, p.Gln554X (human)		 ClinVar
RGD		 PMID:7971964 PMID:17033975 PMID:17186466 PMID:17963498 PMID:18382419 More... RGD:243065269, RGD:265253172, RGD:243065273, RGD:243065272 NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsg2 desmoglein 2 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
protein:decreased expression:septum, heart left ventricle, heart right ventricle (human)		 ClinVar
RGD		 PMID:2040044 PMID:12586364 PMID:16025435 PMID:16199547 PMID:16505173 More... RGD:243065273 NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Right ventricular cardiomyopathy ClinVar
RGD		 PMID:9536098 PMID:10395892 PMID:10594734 PMID:11063735 PMID:15941723 More... RGD:1580890 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 9:45,388,979...45,462,421
Ensembl chr 9:45,388,981...45,431,192 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:32112656 NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO protein:altered expression:ventricle
protein:decreased expression:cardiac ventricle (mouse)
protein:decreased expression:buccal mucosa		 RGD PMID:23178689 PMID:27412010 PMID:26850880 RGD:11352402, RGD:265253172, RGD:13592599 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639 		JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257 		JBrowse link
G Il6r interleukin 6 receptor ISO protein:increased expression:serum RGD PMID:21859801 RGD:10402826 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Jup junction plakoglobin ISO protein:altered expression:ventricle
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC		 ClinVar
RGD		 PMID:24033266 PMID:24884844 PMID:25741868 PMID:28098346 PMID:28492532 More... RGD:11352402 NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:9328483 PMID:9354783 PMID:9354802 PMID:9445165 PMID:10400998 More... NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:15176425 PMID:16244680 PMID:22402334 PMID:22581653 PMID:25741868 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30847666 PMID:31333075 More... NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:20474083 PMID:23861362 PMID:24033266 PMID:25179549 PMID:25351510 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Lmna lamin A/C ISO DNA:duplication:cds:c.418_438dup (human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC		 ClinVar
RGD		 PMID:22224630 PMID:22266370 PMID:22464770 PMID:23183350 PMID:23853504 More... RGD:11056513 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Mir130a microRNA 130a ISO RGD PMID:27834139 RGD:243065269 NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629 		JBrowse link
G Mir320a microRNA 320a ISO miRNA:decreased expression:blood plasma (human) RGD PMID:28684747 RGD:155882549 NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:28991257 PMID:29132927 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia ClinVar PMID:7731997 PMID:7796500 PMID:8483915 PMID:8541871 PMID:8951566 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:28611029 PMID:35629155 NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:25741868 PMID:28492532 PMID:29016939 PMID:31983221 NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISS MouseDO NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia		 ClinVar
RGD		 PMID:2412583 PMID:9536098 PMID:15489853 PMID:16101641 PMID:16199547 More... RGD:1580872, RGD:265253172, RGD:1580873 NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like ISS MouseDO NCBI chr 1:79,010,997...79,030,714
Ensembl chr 1:79,011,745...79,030,712 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:23396983 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26498160 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060 		JBrowse link
G RGD1310553 similar to expressed sequence AI597479 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 9:45,371,396...45,382,123
Ensembl chr 9:45,371,430...45,382,120 		JBrowse link
G Ryr2 ryanodine receptor 2 susceptibility ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Right ventricular cardiomyopathy ClinVar
RGD		 PMID:11159936 PMID:12093772 PMID:12459180 PMID:16769042 PMID:18326664 More... RGD:1599243 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO protein:altered expression:ventricle
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia		 ClinVar
RGD		 PMID:10973849 PMID:11222472 PMID:12354768 PMID:12820704 PMID:14523039 More... RGD:11352402 NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:79,904,698...79,922,808
Ensembl chr10:79,908,738...79,922,813 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:17143282 PMID:17143285 PMID:17586837 PMID:19953625 PMID:20981092 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25645515 PMID:25741868 PMID:32576985 NCBI chr10:57,795,845...57,800,363
Ensembl chr10:57,795,382...57,800,363 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia ClinVar PMID:18313022 PMID:18414213 PMID:19467449 PMID:20010364 PMID:21214875 More... NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 PMID:25741868 More... NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:21887725 PMID:25741868 PMID:26820365 PMID:28492532 PMID:30391667 More... NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Right ventricular cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:23396983 PMID:23861362 PMID:24033266 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010 		JBrowse link
arrhythmogenic right ventricular dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:19863551 PMID:23299917 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19569224 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:21723241 PMID:24070718 PMID:25741868 PMID:26138720 PMID:28492532 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:15519027 PMID:18533079 PMID:20414521 PMID:20624503 PMID:21415409 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:19863551 PMID:24704780 PMID:25741868 PMID:28492532 NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25637381 PMID:25741868 PMID:28404607 PMID:28492532 PMID:30847666 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12529708 PMID:15639475 PMID:16199547 PMID:23824657 PMID:23861362 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
arrhythmogenic right ventricular dysplasia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg2 desmoglein 2 ISO
ISS		 ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10
OMIM:610193
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2040044 PMID:9536098 PMID:12586364 PMID:16025435 PMID:16199547 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 ClinVar PMID:25741868 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 ClinVar PMID:28492532 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
arrhythmogenic right ventricular dysplasia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7971964 PMID:9536098 PMID:16199547 PMID:17033975 PMID:17186466 More... NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
arrhythmogenic right ventricular dysplasia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jup junction plakoglobin ISO
ISS		 ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12
CTD Direct Evidence: marker/mechanism
OMIM:611528		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:17576681 More... NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
arrhythmogenic right ventricular dysplasia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna3 catenin alpha 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 13		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21254927 PMID:22421363 More... NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978 		JBrowse link
G Lrrtm3 leucine rich repeat transmembrane neuronal 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 13 ClinVar PMID:28492532 NCBI chr20:24,515,627...24,689,669
Ensembl chr20:24,515,627...24,689,669 		JBrowse link
arrhythmogenic right ventricular dysplasia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 14 OMIM
ClinVar		 PMID:25741868 PMID:28280076 PMID:28326674 PMID:28492532 NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167 		JBrowse link
arrhythmogenic right ventricular dysplasia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpsa ribosomal protein SA ISS OMIM:604400 MouseDO NCBI chr 8:119,851,225...119,855,103
Ensembl chr 8:119,851,225...119,855,247 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16783378 PMID:17576681 PMID:18230648 More... NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
arrhythmogenic right ventricular dysplasia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp6 bone morphogenetic protein 6 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 ClinVar PMID:28492532 NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Dsp desmoplakin ISO
ISS		 ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8
OMIM:607450
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8769422 PMID:9229116 PMID:9536098 PMID:9887343 PMID:10395892 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Snrnp48 small nuclear ribonucleoprotein U11/U12 subunit 48 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 ClinVar PMID:28492532 NCBI chr17:26,596,266...26,616,058
Ensembl chr17:26,596,275...26,616,040 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 ClinVar NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243 		JBrowse link
arrhythmogenic right ventricular dysplasia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Des desmin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:25741868 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:27066507 PMID:28492532 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:16199547 PMID:16773573 PMID:17105751 PMID:19151369 PMID:19863551 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:20716751 PMID:24503780 PMID:25227139 PMID:25741868 PMID:25820315 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Fgd4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:27066507 PMID:28492532 NCBI chr11:84,399,989...84,551,013
Ensembl chr11:84,399,816...84,546,972 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:25741868 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:25741868 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2163603 PMID:2412583 PMID:9536098 PMID:15489853 PMID:16101641 More... NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:14519435 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:25741868 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR 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 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 ClinVar PMID:27066507 PMID:28492532 NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125 		JBrowse link
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp6 bone morphogenetic protein 6 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Dsp desmoplakin ISO
ISS		 ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
OMIM:605676
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8769422 PMID:9229116 PMID:9536098 PMID:9887343 PMID:10594734 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Snrnp48 small nuclear ribonucleoprotein U11/U12 subunit 48 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr17:26,596,266...26,616,058
Ensembl chr17:26,596,275...26,616,040 		JBrowse link
catecholaminergic polymorphic ventricular tachycardia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:16253912 PMID:22581653 PMID:25351510 PMID:25741868 PMID:26771585 More... NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837 		JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:23040497 PMID:23388215 PMID:24563457 PMID:24816216 PMID:25557436 More... NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227 		JBrowse link
G Casq2 calsequestrin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 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, STRESS-INDUCED POLYMORPHIC		 CTD
ClinVar		 PMID:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 More... NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267 		JBrowse link
G Dmpk DM1 protein kinase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr 1:78,730,255...78,740,585
Ensembl chr 1:78,730,275...78,740,593 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 PMID:33552729 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:15843404 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Mab21l3 mab-21 like 3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 2:189,248,895...189,271,652
Ensembl chr 2:189,248,895...189,271,652 		JBrowse link
G Mt1m metallothionein 1M ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr20:3,159,037...3,159,409
Ensembl chr 5:119,728,811...119,730,073 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28600387 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Nhlh2 nescient helix loop helix 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 2:189,444,287...189,449,625
Ensembl chr 2:189,442,711...189,449,625 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO
ISS		 ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
OMIM:604772
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC		 OMIM
ClinVar
MouseDO
CTD		 PMID:1992601 PMID:8589694 PMID:9536098 PMID:11078270 PMID:11157710 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:15840476 PMID:19841300 PMID:20129283 PMID:22581653 PMID:23805106 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Slc22a15 solute carrier family 22, member 15 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 2:189,298,836...189,359,902
Ensembl chr 2:189,298,832...189,358,792 		JBrowse link
G Tnni3k TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 ClinVar PMID:25741868 NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
G Trdn triadin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21520333 PMID:22422768 More... NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619 		JBrowse link
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:15941723 PMID:16175511 PMID:16199547 PMID:16628197 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
myofibrillar myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924 		JBrowse link
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,688,194...76,695,162
Ensembl chr 9:76,688,194...76,696,469 		JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,677,403...76,688,050
Ensembl chr 9:76,677,404...76,687,986 		JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,945,960...75,953,618
Ensembl chr 9:75,945,961...75,953,607 		JBrowse link
G Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344 		JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128 		JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100 		JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188 		JBrowse link
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460 		JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551 		JBrowse link
G Des desmin ISO
ISS		 ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy | ClinVar Annotator: match by term: Myofibrillar myopathy 1
OMIM:601419
CTD Direct Evidence: marker/mechanism
protein:altered expression:cardiomyocyte:		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:5828910 PMID:7672786 PMID:8114783 PMID:9382102 PMID:9536098 More... RGD:13542086 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277 		JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716 		JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065 		JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532 		JBrowse link
G Ldb3 LIM domain binding 3 ISS OMIM:601419 MouseDO NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680 		JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985 		JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444 		JBrowse link
G Plcd4 phospholipase C, delta 4 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453 		JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124 		JBrowse link
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959 		JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190 		JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722 		JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395 		JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Slc23a3 solute carrier family 23, member 3 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs ClinVar NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855 		JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422 		JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069 		JBrowse link
G Ttll4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:25741868 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918 		JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044 		JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400 		JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523 		JBrowse link
G Zfand2b zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445 		JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856 		JBrowse link
Naxos disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jup junction plakoglobin ISO 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: 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
CTD
ClinVar		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:17576681 More... NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    Developmental Disease 18434
      congenital heart disease 1322
        arrhythmogenic right ventricular cardiomyopathy 118
          Naxos disease + 4
          arrhythmogenic right ventricular dysplasia 1 9
          arrhythmogenic right ventricular dysplasia 10 3
          arrhythmogenic right ventricular dysplasia 11 1
          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 24
          myofibrillar myopathy 1 44
Path 2
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      cardiovascular system disease 5322
        heart disease 3271
          cardiomyopathy 1270
            intrinsic cardiomyopathy 889
              arrhythmogenic right ventricular cardiomyopathy 118
                Naxos disease + 4
                arrhythmogenic right ventricular dysplasia 1 9
                arrhythmogenic right ventricular dysplasia 10 3
                arrhythmogenic right ventricular dysplasia 11 1
                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 24
                myofibrillar myopathy 1 44
paths to the root