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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
 narrow_synonym: TAX1BP3-RELATED ARRHYTHMOGENIC 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.


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: Cardiomyopathy, ARVC
ClinVar PMID:20890277 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 NCBI chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496
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 chr 1:212,245,742...212,323,387
Ensembl chr 1:217,272,597...217,321,103
JBrowse link
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608
JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905
JBrowse link
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, arrhythmogenic right ventricular dysplasia ClinVar PMID:21898660 PMID:23861362 PMID:25741868 PMID:28492532 PMID:29382405 PMID:30615648 NCBI chr10:116,221,747...116,248,692
Ensembl chr10:119,643,963...119,665,964
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362 PMID:25447171 PMID:25661095 PMID:25741868 PMID:28492532 NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826
JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chr10:18,459,528...18,862,495
Ensembl chr10:18,795,832...19,195,226
JBrowse link
G CALR3 calreticulin 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:17655857 PMID:23861362 PMID:28492532 NCBI chr19:15,969,684...15,986,858
Ensembl chr19:16,948,499...16,965,161
JBrowse link
G CDH2 cadherin 2 ISO 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 chr18:21,210,001...21,435,919
Ensembl chr18:24,812,019...25,008,325
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 chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604
JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:23,728,650...26,338,849
Ensembl chr  X:31,282,415...33,492,733
JBrowse link
G DSC2 desmocollin 2 ISO 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 Annotator: match by term: Cardiomyopathy, ARVC
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: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:31333075 PMID:31568572 NCBI chr18:24,296,505...24,332,997
Ensembl chr18:27,894,603...27,930,843
JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: 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:29544605 PMID:30454721 PMID:30790397 PMID:30885746 PMID:31019283 PMID:31333075 PMID:31568572 NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
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 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:20738328 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:27000522 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:30354334 PMID:31264976 RGD:1580890 NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
JBrowse link
G FHL2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr2A:96,391,513...96,469,267
Ensembl chr2A:106,446,368...106,484,895
JBrowse link
G GJA1 gap junction protein alpha 1 ISO protein:decreased expression:buccal mucosa
protein:altered expression:ventricle
RGD PMID:23178689 PMID:26850880 RGD:11352402 RGD:13592599 NCBI chr 6:119,213,513...119,227,617 JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285
JBrowse link
G IFT43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar NCBI chr14:56,544,333...56,642,312
Ensembl chr14:75,387,742...75,485,506
JBrowse link
G IL6R interleukin 6 receptor ISO protein:increased expression:serum RGD PMID:21859801 RGD:10402826 NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089
JBrowse link
G JUP junction plakoglobin ISO 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 chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar 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 chr21:20,818,395...20,884,053 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 chr 7:142,528,979...142,562,074 JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 6:109,920,329...110,066,076
Ensembl chr 6:113,995,888...114,141,273
JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 NCBI chr10:83,095,625...83,164,297
Ensembl chr10:86,654,737...86,722,148
Ensembl chr10:86,654,737...86,722,148
JBrowse link
G LMNA lamin A/C ISO DNA:duplication:cds:c.418_438dup (human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
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:30402260 PMID:30765282 RGD:11056513 NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
G LOC100978529 myosin-7 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
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 chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
JBrowse link
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331
JBrowse link
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:28611029 NCBI chr12:108,479,941...108,489,739
Ensembl chr12:111,873,270...111,883,047
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr18:11,057,733...11,215,998
Ensembl chr18:13,368,052...13,523,834
JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:64,590,232...64,696,512
Ensembl chr10:66,902,008...67,004,967
JBrowse link
G PKP2 plakophilin 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/cardiomyopathy
RGD
ClinVar
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: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:30161220 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 PMID:31702781 RGD:1580872 RGD:1580873 NCBI chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998
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 chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:23396983 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26498160 PMID:26656175 PMID:27296017 PMID:28492532 PMID:30775854 NCBI chr10:107,240,854...107,433,749
Ensembl chr10:110,822,255...110,882,909
JBrowse link
G RYR2 ryanodine receptor 2 susceptibility ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
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 chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO 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 chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202
JBrowse link
G SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr17:44,255,807...44,266,182
Ensembl chr17:49,130,332...49,141,188
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:17143282 PMID:17143285 PMID:17586837 PMID:20981092 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961
JBrowse link
G TAX1BP3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25645515 PMID:25741868 PMID:32576985 NCBI chr17:3,713,211...3,718,959
Ensembl chr17:3,709,600...3,715,342
JBrowse link
G TGFB3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: 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 chr14:56,516,697...56,542,097
Ensembl chr14:75,359,505...75,382,412
JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 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 chr 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587
JBrowse link
G TMPO thymopoietin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular 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 chr12:96,100,509...96,135,364
Ensembl chr12:99,514,803...99,546,535
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:21887725 PMID:25741868 PMID:26820365 PMID:28492532 PMID:30391667 NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: 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 PMID:18414213 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25016126 PMID:25589632 PMID:25741868 PMID:26467025 PMID:26498160 PMID:28492532 PMID:28750076 PMID:28857138 NCBI chr2B:65,783,512...66,064,618 JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: 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 chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377
JBrowse link
arrhythmogenic right ventricular dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25741868 NCBI chr18:24,296,505...24,332,997
Ensembl chr18:27,894,603...27,930,843
JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19569224 PMID:20031616 PMID:20129281 PMID:20603720 PMID:20829228 PMID:20857253 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21859740 PMID:23071725 PMID:23299917 PMID:23671136 PMID:23812740 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24082139 PMID:24436435 PMID:24704780 PMID:25332820 PMID:25445213 PMID:25637381 PMID:25741868 PMID:26138720 PMID:26230511 PMID:26899768 PMID:28492532 PMID:29062102 NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:24070718 PMID:25741868 PMID:28492532 NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:15519027 PMID:18533079 PMID:20414521 PMID:20624503 PMID:21415409 PMID:21835320 PMID:22765922 PMID:23233322 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24093860 PMID:25524337 PMID:25741868 PMID:25971843 PMID:26090888 PMID:27267291 PMID:28420666 PMID:28492532 PMID:30446606 PMID:30731207 PMID:30871747 PMID:30972196 NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849
JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998
JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:140,681,252...140,742,753
Ensembl chr 8:143,674,696...143,712,433
JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25637381 PMID:25741868 PMID:28404607 PMID:28492532 NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
JBrowse link
G TGFB3 transforming growth factor beta 3 ISO OMIM NCBI chr14:56,516,697...56,542,097
Ensembl chr14:75,359,505...75,382,412
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chr2B:65,783,512...66,064,618 JBrowse link
arrhythmogenic right ventricular dysplasia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSG2 desmoglein 2 ISO OMIM NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786
JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 ClinVar PMID:28492532 NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960
JBrowse link
arrhythmogenic right ventricular dysplasia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSC2 desmocollin 2 ISO OMIM NCBI chr18:24,296,505...24,332,997
Ensembl chr18:27,894,603...27,930,843
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 chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479
JBrowse link
arrhythmogenic right ventricular dysplasia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNA3 catenin alpha 3 ISO OMIM NCBI chr10:62,388,454...64,177,116
Ensembl chr10:64,712,576...66,442,238
JBrowse link
G LRRTM3 leucine rich repeat transmembrane neuronal 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 13 ClinVar NCBI chr10:63,407,003...63,594,210
Ensembl chr10:65,722,425...65,893,608
JBrowse link
Arrhythmogenic Right Ventricular Dysplasia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH2 cadherin 2 ISO OMIM NCBI chr18:21,210,001...21,435,919
Ensembl chr18:24,812,019...25,008,325
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 chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
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 chr 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587
JBrowse link
arrhythmogenic right ventricular dysplasia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO OMIM NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
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 chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604
JBrowse link
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507 PMID:28492532 NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376
JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar NCBI chr18:24,296,505...24,332,997
Ensembl chr18:27,894,603...27,930,843
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 chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507 PMID:28492532 NCBI chr12:53,574,573...53,822,971
Ensembl chr12:56,181,565...56,421,810
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
G LOC100978529 myosin-7 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
JBrowse link
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:28492532 NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331
JBrowse link
G PKP2 plakophilin 2 ISO OMIM NCBI chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar PMID:14519435 PMID:24033266 PMID:24503780 PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr 7:143,143,556...143,463,492
Ensembl chr 7:155,293,748...155,610,078
JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26567375 PMID:28492532 NCBI chr2B:65,783,512...66,064,618 JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507 PMID:28492532 NCBI chr12:53,463,086...53,493,352
Ensembl chr12:56,065,505...56,076,026
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO OMIM NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
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 chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
JBrowse link
myofibrillar myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,467,345...106,476,614
Ensembl chr2B:225,058,771...225,067,626
JBrowse link
G ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,487,377...106,494,258
Ensembl chr2B:225,078,322...225,085,205
JBrowse link
G ATG9A autophagy related 9A ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,477,007...106,487,249
Ensembl chr2B:225,067,590...225,078,065
JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:105,615,244...105,627,114
Ensembl chr2B:224,213,335...224,223,583
JBrowse link
G CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,217,926...106,220,444 JBrowse link
G CFAP65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,260,872...106,299,594
Ensembl chr2B:224,854,262...224,892,490
JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:105,826,633...105,854,415
Ensembl chr2B:224,422,467...224,450,133
JBrowse link
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,429,610...106,435,887
Ensembl chr2B:225,022,210...225,028,410
JBrowse link
G CRYBA2 crystallin beta A2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,248,236...106,252,081
Ensembl chr2B:224,841,620...224,844,836
JBrowse link
G CTDSP1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:105,658,394...105,664,571
Ensembl chr2B:224,254,460...224,262,000
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,042,235...106,076,840
Ensembl chr2B:224,637,238...224,671,474
JBrowse link
G DES desmin ISO OMIM NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604
JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,536,846...106,544,430
Ensembl chr2B:225,127,967...225,135,556
JBrowse link
G DNPEP aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,631,392...106,645,100
Ensembl chr2B:225,221,703...225,247,699
JBrowse link
G FEV FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,238,933...106,243,499 JBrowse link
G GLB1L galactosidase beta 1 like ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,494,214...106,503,001
Ensembl chr2B:225,085,163...225,093,610
JBrowse link
G IHH Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,312,472...106,319,124
Ensembl chr2B:224,906,271...224,911,506
JBrowse link
G LOC100988698 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856
JBrowse link
G LOC100995882 tubulin alpha-4A chain ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,507,842...106,512,155
Ensembl chr2B:225,093,643...225,102,188
JBrowse link
G NHEJ1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,326,596...106,419,928
Ensembl chr2B:224,926,183...225,008,788
JBrowse link
G PLCD4 phospholipase C delta 4 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:105,864,706...105,895,114
Ensembl chr2B:224,461,261...224,490,345
JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:105,529,775...105,606,207
Ensembl chr2B:224,127,504...224,204,046
JBrowse link
G PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,085,299...106,139,298
Ensembl chr2B:224,679,831...224,687,705
JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,547,156...106,567,056
Ensembl chr2B:225,138,887...225,206,700
JBrowse link
G RESP18 regulated endocrine specific protein 18 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,584,632...106,590,704
Ensembl chr2B:225,175,221...225,180,916
JBrowse link
G RETREG2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,435,938...106,441,428
Ensembl chr2B:225,028,498...225,034,024
JBrowse link
G RNF25 ring finger protein 25 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:105,921,875...105,930,034
Ensembl chr2B:224,517,286...224,525,253
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941
JBrowse link
G SLC23A3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,418,754...106,427,931
Ensembl chr2B:225,011,825...225,020,503
JBrowse link
G STK16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,502,953...106,506,470
Ensembl chr2B:225,093,645...225,098,504
JBrowse link
G STK36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:105,930,030...105,960,718
Ensembl chr2B:224,525,226...224,555,583
JBrowse link
G TMBIM1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:105,533,578...105,551,969
Ensembl chr2B:224,131,478...224,143,170
JBrowse link
G TTLL4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:105,968,840...106,016,034
Ensembl chr2B:224,563,691...224,610,431
JBrowse link
G USP37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:105,708,070...105,826,435
Ensembl chr2B:224,304,520...224,422,228
JBrowse link
G VIL1 villin 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:105,677,371...105,711,293
Ensembl chr2B:224,274,548...224,304,550
JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912
JBrowse link
G WNT6 Wnt family member 6 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,119,740...106,134,317
Ensembl chr2B:224,714,229...224,728,171
JBrowse link
G ZFAND2B zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:106,464,364...106,467,217
Ensembl chr2B:225,055,969...225,058,647
JBrowse link
G ZNF142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr2B:105,894,127...105,917,608
Ensembl chr2B:224,492,064...224,509,839
JBrowse link
Naxos disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JUP junction plakoglobin ISO OMIM NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12807
    Developmental Diseases 9074
      congenital heart disease 995
        arrhythmogenic right ventricular cardiomyopathy 91
          Arrhythmogenic Right Ventricular Dysplasia 14 1
          Naxos disease + 2
          arrhythmogenic right ventricular dysplasia 1 9
          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 13
          myofibrillar myopathy 1 39
Path 2
Term Annotations click to browse term
  disease 12807
    disease of anatomical entity 12337
      cardiovascular system disease 3261
        heart disease 2307
          cardiomyopathy 937
            intrinsic cardiomyopathy 650
              arrhythmogenic right ventricular cardiomyopathy 91
                Arrhythmogenic Right Ventricular Dysplasia 14 1
                Naxos disease + 2
                arrhythmogenic right ventricular dysplasia 1 9
                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 13
                myofibrillar myopathy 1 39
paths to the root