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
Accession: DOID:0050431
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
broad_synonym: ARRHYTHMOGENIC CARDIOMYOPATHY
primary_id: MESH:D019571
alt_id: RDO:0004313
xref: NCI:C84571 ; OMIM:PS107970 ; ORDO:217656 ; ORDO:247
For additional species annotation, visit the
Alliance of Genome Resources .
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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 PMID:28492532 More...
NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
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Actn2
actinin alpha 2
ISO
DNA:polymorphism: : ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:11078270
RGD:13506947
NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
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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
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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
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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 More...
NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
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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 chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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Cacnb2
calcium voltage-gated channel auxiliary subunit beta 2
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar
PMID:25741868
NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
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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
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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
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Des
desmin
ISO
DNA:mutation:cds:c.1203G>C (p.E401D)(human) ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar RGD
PMID:10717012 PMID:10905661 PMID:14991347 PMID:15050448 PMID:21262226 PMID:22153487 PMID:23425003 PMID:24033266 PMID:25179549 PMID:25741868 PMID:27532257 PMID:27854218 PMID:28492532 PMID:31718026 PMID:33023321 PMID:29212896 More...
RGD:13525009
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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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
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Dsc2
desmocollin 2
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: Cardiomyopathy, arrhythmogenic right ventricular dysplasia
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:23863954 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:31024045 PMID:31333075 PMID:31402444 PMID:31568572 More...
NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
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Dsg2
desmoglein 2
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:2040044 PMID:16025435 PMID:16199547 PMID:16505173 PMID:16773573 PMID:16774985 PMID:17105751 PMID:17372169 PMID:18382419 PMID:18632414 PMID:18678517 PMID:18813333 PMID:19039334 PMID:19151369 PMID:19358943 PMID:19569224 PMID:19863551 PMID:19955750 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:21455723 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:28166811 PMID:28255936 PMID:28283360 PMID:28341588 PMID:28471438 PMID:28492532 PMID:28578331 PMID:28818065 PMID:29038103 PMID:29062102 PMID:29178656 PMID:29544605 PMID:30454721 PMID:30790397 PMID:30885746 PMID:31019283 PMID:31333075 PMID:31386562 PMID:31402444 PMID:31542937 PMID:31568572 More...
NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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Dsp
desmoplakin
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: Cardiomyopathy, arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Right ventricular cardiomyopathy
ClinVar RGD
PMID:9536098 PMID:10395892 PMID:10594734 PMID:11063735 PMID:15941723 PMID:16061754 PMID:16199547 PMID:16628197 PMID:16774985 PMID:16917092 PMID:17576681 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:23671136 PMID:23810894 PMID:23812740 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:25691752 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:28166811 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:30775854 PMID:31264976 PMID:31386562 PMID:31402444 PMID:31447099 PMID:31737537 PMID:12875771 More...
RGD:1580890
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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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...45,462,530
Ensembl chr 9:45,388,981...45,431,192
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Gja1
gap junction protein, alpha 1
ISO
protein:altered expression:ventricle protein:decreased expression:buccal mucosa
RGD
PMID:23178689 PMID:26850880
RGD:11352402 , RGD:13592599
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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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
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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
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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
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Jup
junction plakoglobin
ISO
protein:altered expression:ventricle ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar RGD
PMID:24033266 PMID:24884844 PMID:25741868 PMID:28098346 PMID:28492532 PMID:23178689 More...
RGD:11352402
NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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Kcne1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
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 PMID:30847666 PMID:31447099 PMID:31737537 PMID:31835641 PMID:31941373 PMID:32058015 PMID:32344329 More...
NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
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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 More...
NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
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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 chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
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Ldb3
LIM domain binding 3
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
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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 PMID:24033266 PMID:24503780 PMID:24846508 PMID:25741868 PMID:27532257 PMID:27585670 PMID:27723096 PMID:27884249 PMID:28492532 PMID:29149195 PMID:29237675 PMID:30165862 PMID:30402260 PMID:30528549 PMID:30765282 PMID:30847666 PMID:30871747 PMID:31303467 PMID:31829210 PMID:25837155 More...
RGD:11056513
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Myh6
myosin heavy chain 6
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar
PMID:25741868 PMID:28492532 PMID:28991257
NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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Myh7
myosin heavy chain 7
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
PMID:7731997 PMID:7796500 PMID:8483915 PMID:8541871 PMID:9172070 PMID:10024460 PMID:10725281 PMID:12974739 PMID:16650083 PMID:17125710 PMID:17192269 PMID:17703256 PMID:19150014 PMID:20031618 PMID:21310275 PMID:21674835 PMID:22429680 PMID:22765922 PMID:23074333 PMID:23283745 PMID:23816408 PMID:23861362 PMID:24033266 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25611685 PMID:25741868 PMID:27247418 PMID:27532257 PMID:28492532 PMID:28640247 PMID:28771489 PMID:29300372 PMID:29875424 PMID:30297972 PMID:30847666 PMID:31447099 PMID:31513939 PMID:31737537 PMID:32746448 PMID:32894683 PMID:33087929 PMID:33673806 PMID:34067482 More...
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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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 chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983
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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
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Mypn
myopalladin
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
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Pdlim3
PDZ and LIM domain 3
ISS
MouseDO
NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657
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Pkp2
plakophilin 2
ISO
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 Annotator: match by term: Cardiomyopathy, arrhythmogenic right ventricular dysplasia
ClinVar RGD
PMID:2412583 PMID:15489853 PMID:16101641 PMID:16199547 PMID:16415378 PMID:16549640 PMID:16567567 PMID:16774985 PMID:16893920 PMID:17010805 PMID:17363426 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:22085907 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:25825460 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:27930701 PMID:28069705 PMID:28177452 PMID:28253841 PMID:28255936 PMID:28301460 PMID:28341588 PMID:28431057 PMID:28471438 PMID:28472724 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:30385303 PMID:30445427 PMID:30562116 PMID:30571190 PMID:30615648 PMID:30656044 PMID:30677492 PMID:30764827 PMID:30765282 PMID:30790397 PMID:30847666 PMID:31319917 PMID:31333075 PMID:31386562 PMID:31402444 PMID:31447099 PMID:31514951 PMID:31539150 PMID:31568572 PMID:31638835 PMID:31702781 PMID:31737537 PMID:32183154 PMID:32372669 PMID:32600061 PMID:33087929 PMID:33232181 PMID:16567567 PMID:15489853 More...
RGD:1580872 , RGD:1580873
NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
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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
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar
PMID:25741868
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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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 More...
NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060
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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
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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: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:28150229 PMID:28404607 PMID:28492532 PMID:29874177 PMID:31112425 PMID:31337358 PMID:32233023 PMID:11159936 More...
RGD:1599243
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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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: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Cardiomyopathy, arrhythmogenic right ventricular dysplasia
ClinVar RGD
PMID:10973849 PMID:11222472 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:22557970 PMID:22581653 PMID:23008441 PMID:23098067 PMID:23503384 PMID:23631430 PMID:23805106 PMID:23861362 PMID:24033266 PMID:24653702 PMID:25163546 PMID:25351510 PMID:25741868 PMID:25829473 PMID:25904541 PMID:25923670 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 PMID:33535892 PMID:23178689 More...
RGD:11352402
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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Sgca
sarcoglycan, alpha
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:79,904,698...79,922,813
Ensembl chr10:79,908,738...79,922,813
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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:20981092 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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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 chr10:57,795,785...57,800,363
Ensembl chr10:57,795,382...57,800,363
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Tgfb3
transforming growth factor, beta 3
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar
PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28798025 PMID:31568572 More...
NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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Tmem43
transmembrane protein 43
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, arrhythmogenic right ventricular dysplasia
ClinVar
PMID:18313022 PMID:18414213 PMID:19467449 PMID:20010364 PMID:21214875 PMID:22458570 PMID:22725725 PMID:23161701 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:28166811 PMID:28471438 PMID:28491673 PMID:28492532 PMID:29040414 PMID:29980933 PMID:30700137 More...
NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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Tmpo
thymopoietin
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar
PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 PMID:25741868 PMID:28074886 PMID:28492532 PMID:30327538 More...
NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
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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 chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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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: Right ventricular cardiomyopathy
ClinVar
PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25016126 PMID:25448463 PMID:25589632 PMID:25741868 PMID:26467025 PMID:26498160 PMID:26516846 PMID:27662471 PMID:28492532 PMID:28750076 PMID:28771489 PMID:28857138 More...
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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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
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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:25741868
NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
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Dsg2
desmoglein 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: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 More...
NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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Dsp
desmoplakin
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1
ClinVar
PMID:24070718 PMID:25741868 PMID:28492532
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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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 More...
NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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Pkp2
plakophilin 2
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
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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
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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
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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Tgfb3
transforming growth factor, beta 3
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1
OMIM ClinVar
PMID:12529708 PMID:15639475 PMID:16199547 PMID:23861362 PMID:25741868 PMID:25835445 PMID:26188975 PMID:28492532 PMID:29907982 More...
NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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Ttn
titin
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 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
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Dsg2
desmoglein 2
ISO
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10
OMIM ClinVar
PMID:2040044 PMID:9536098 PMID:16025435 PMID:16199547 PMID:16505173 PMID:16773573 PMID:16774985 PMID:17105751 PMID:17372169 PMID:17576681 PMID:18382419 PMID:18632414 PMID:18639457 PMID:18678517 PMID:18813333 PMID:19039334 PMID:19151369 PMID:19279339 PMID:19358943 PMID:19569224 PMID:19863551 PMID:19955750 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:21220045 PMID:21397041 PMID:21455723 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21859740 PMID:22000064 PMID:22036071 PMID:22214898 PMID:22458570 PMID:23071725 PMID:23178689 PMID:23299917 PMID:23381804 PMID:23396983 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:24125834 PMID:24238504 PMID:24436435 PMID:24503780 PMID:24585727 PMID:24704780 PMID:25059832 PMID:25087486 PMID:25172079 PMID:25174650 PMID:25213555 PMID:25332820 PMID:25351510 PMID:25445213 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25765472 PMID:25820315 PMID:25877686 PMID:26112015 PMID:26138720 PMID:26230511 PMID:26633542 PMID:26656175 PMID:26822237 PMID:26899768 PMID:27005929 PMID:27055156 PMID:27114410 PMID:27194543 PMID:27532257 PMID:27930701 PMID:28087566 PMID:28166811 PMID:28255936 PMID:28283360 PMID:28341588 PMID:28416588 PMID:28454995 PMID:28471438 PMID:28472724 PMID:28492532 PMID:28567303 PMID:28578331 PMID:28600387 PMID:28611029 PMID:28818065 PMID:29038103 PMID:29062102 PMID:29178656 PMID:29247119 PMID:29544605 PMID:29773157 PMID:29802319 PMID:30454721 PMID:30533233 PMID:30615648 PMID:30731207 PMID:30790397 PMID:30847666 PMID:30885746 PMID:30985088 PMID:30993396 PMID:31019283 PMID:31386562 PMID:31402444 PMID:31542937 PMID:31638835 PMID:33087929 More...
NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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Dsg3
desmoglein 3
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10
ClinVar
PMID:17105751 PMID:28492532 PMID:31386562
NCBI chr18:11,798,905...11,833,415
Ensembl chr18:11,798,900...11,830,818
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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
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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
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Dsc2
desmocollin 2
ISO
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair
OMIM ClinVar
PMID:7971964 PMID:9536098 PMID:16199547 PMID:17033975 PMID:17186466 PMID:17363426 PMID:17576681 PMID:17963498 PMID:18382419 PMID:18678517 PMID:18957847 PMID:19863551 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20197793 PMID:20400443 PMID:20646679 PMID:20716751 PMID:20829228 PMID:20857253 PMID:20864495 PMID:21062920 PMID:21220045 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21822014 PMID:21859740 PMID:22458570 PMID:22722193 PMID:23147450 PMID:23292937 PMID:23299917 PMID:23396983 PMID:23414727 PMID:23514727 PMID:23757202 PMID:23812740 PMID:23826350 PMID:23861362 PMID:23863954 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24503780 PMID:24704780 PMID:24832006 PMID:24967631 PMID:25163546 PMID:25351510 PMID:25390934 PMID:25447171 PMID:25516398 PMID:25525159 PMID:25569433 PMID:25576714 PMID:25637381 PMID:25741868 PMID:25819062 PMID:25820315 PMID:26138720 PMID:26220970 PMID:26498160 PMID:26656175 PMID:26743238 PMID:26780541 PMID:27000522 PMID:27153395 PMID:27532257 PMID:27884173 PMID:27930701 PMID:28153106 PMID:28166811 PMID:28255936 PMID:28416588 PMID:28471438 PMID:28492532 PMID:28600387 PMID:28798025 PMID:29032884 PMID:29178656 PMID:29367541 PMID:29641836 PMID:29750433 PMID:29802319 PMID:30847666 PMID:31024045 PMID:31333075 PMID:31386562 PMID:31397097 PMID:31402444 PMID:31534214 PMID:31568572 PMID:32665702 PMID:32746448 PMID:32853555 PMID:32880476 PMID:33087929 PMID:33684294 PMID:34135346 More...
NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
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Jup
junction plakoglobin
ISO
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12
OMIM ClinVar
PMID:10902626 PMID:16467215 PMID:19863551 PMID:20031617 PMID:20857253 PMID:20864495 PMID:21606396 PMID:21859740 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25351510 PMID:25616645 PMID:25741868 PMID:25765472 PMID:26073755 PMID:26220970 PMID:27532257 PMID:27662471 PMID:27930701 PMID:28166811 PMID:28341588 PMID:28471438 PMID:28492532 PMID:28831623 PMID:29247119 PMID:29334134 PMID:31275992 More...
NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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Ctnna3
catenin alpha 3
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 13
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21254927 PMID:22421363 PMID:23136403 PMID:23375656 PMID:25050139 PMID:25640679 PMID:25741868 PMID:27231342 PMID:27535533 PMID:28166811 PMID:28202948 PMID:28416588 PMID:28492532 More...
NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978
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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
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Cdh2
cadherin 2
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 14
OMIM ClinVar
PMID:28280076
NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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Ryr2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2
OMIM ClinVar
PMID:8589694 PMID:9536098 PMID:11159936 PMID:12106942 PMID:15364606 PMID:15364613 PMID:15466642 PMID:15544015 PMID:16188589 PMID:16239587 PMID:16272262 PMID:16769042 PMID:16873551 PMID:17062961 PMID:17558603 PMID:17576681 PMID:18326664 PMID:18752142 PMID:19398665 PMID:19597050 PMID:19709828 PMID:19926015 PMID:20106799 PMID:20157052 PMID:21315846 PMID:21454795 PMID:21616285 PMID:21659649 PMID:21964171 PMID:22221940 PMID:22222782 PMID:22373669 PMID:22374134 PMID:22396703 PMID:22677073 PMID:22787013 PMID:22828895 PMID:23022705 PMID:23204524 PMID:23286974 PMID:23396983 PMID:23595086 PMID:23820649 PMID:23861362 PMID:23871484 PMID:24025405 PMID:24033266 PMID:24055113 PMID:24136861 PMID:24503780 PMID:24558114 PMID:24631775 PMID:24978818 PMID:24981977 PMID:25041964 PMID:25087098 PMID:25092222 PMID:25163546 PMID:25193700 PMID:25351510 PMID:25440180 PMID:25467552 PMID:25637381 PMID:25650408 PMID:25741868 PMID:25844899 PMID:25925909 PMID:26114861 PMID:26132555 PMID:26153920 PMID:26189708 PMID:26272908 PMID:26332594 PMID:26498160 PMID:26633542 PMID:26656175 PMID:26704558 PMID:26743238 PMID:26899768 PMID:27054166 PMID:27153395 PMID:27194543 PMID:27229459 PMID:27231019 PMID:27482086 PMID:27538377 PMID:27727376 PMID:27756708 PMID:27930701 PMID:28150229 PMID:28166811 PMID:28237968 PMID:28255936 PMID:28404607 PMID:28422759 PMID:28449774 PMID:28492532 PMID:28600387 PMID:28807990 PMID:28988457 PMID:29247119 PMID:29434162 PMID:29453246 PMID:29511324 PMID:29544605 PMID:29555771 PMID:29874177 PMID:30086531 PMID:31112425 PMID:31337358 PMID:31847883 PMID:32233023 More...
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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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
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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
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Tmem43
transmembrane protein 43
ISO
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 5
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18313022 PMID:18414213 PMID:19467449 PMID:20010364 PMID:20435227 PMID:21214875 PMID:21391237 PMID:21636032 PMID:22458570 PMID:22725725 PMID:23161701 PMID:23178689 PMID:23555315 PMID:23671136 PMID:23810883 PMID:23812740 PMID:23861362 PMID:24033266 PMID:24125834 PMID:24598986 PMID:25214167 PMID:25343256 PMID:25351510 PMID:25676813 PMID:25741868 PMID:25820315 PMID:26467025 PMID:26513349 PMID:26743238 PMID:26840987 PMID:27153395 PMID:27532257 PMID:28166811 PMID:28301460 PMID:28471438 PMID:28491673 PMID:28492532 PMID:28750076 PMID:29040414 PMID:29247119 PMID:29980933 PMID:30206291 PMID:30471092 PMID:30700137 PMID:30847666 PMID:31333075 PMID:31568572 PMID:34050020 More...
NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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Dsp
desmoplakin
ISO
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8
OMIM ClinVar
PMID:8769422 PMID:9229116 PMID:9536098 PMID:10395892 PMID:10594734 PMID:11063735 PMID:11278896 PMID:11841538 PMID:12373648 PMID:15210133 PMID:15941723 PMID:16061754 PMID:16175511 PMID:16199547 PMID:16467215 PMID:16628197 PMID:16774985 PMID:16917092 PMID:17576681 PMID:18382419 PMID:18632414 PMID:19095136 PMID:19279339 PMID:19558499 PMID:19597050 PMID:19763152 PMID:19863551 PMID:19924139 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20307669 PMID:20400443 PMID:20435227 PMID:20525856 PMID:20716751 PMID:20738328 PMID:20829228 PMID:20864495 PMID:20940358 PMID:21062920 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22214898 PMID:22216297 PMID:22406018 PMID:22555271 PMID:22949226 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23465283 PMID:23514727 PMID:23524727 PMID:23671136 PMID:23810894 PMID:23812740 PMID:23861362 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24440382 PMID:24448499 PMID:24503780 PMID:24598986 PMID:24704780 PMID:24784157 PMID:24825141 PMID:24938629 PMID:24967631 PMID:24981977 PMID:25157032 PMID:25163546 PMID:25196244 PMID:25225338 PMID:25227139 PMID:25344691 PMID:25351510 PMID:25403600 PMID:25447171 PMID:25516398 PMID:25525159 PMID:25550050 PMID:25569433 PMID:25616645 PMID:25637381 PMID:25661095 PMID:25676813 PMID:25691752 PMID:25693453 PMID:25741868 PMID:25741904 PMID:25765472 PMID:25820315 PMID:26073755 PMID:26138720 PMID:26148547 PMID:26187847 PMID:26220970 PMID:26230511 PMID:26314686 PMID:26332594 PMID:26383259 PMID:26399581 PMID:26406308 PMID:26498160 PMID:26569459 PMID:26585738 PMID:26604139 PMID:26656175 PMID:26688388 PMID:26735901 PMID:26743238 PMID:26833927 PMID:26850880 PMID:26899768 PMID:27000522 PMID:27097650 PMID:27153395 PMID:27194543 PMID:27329731 PMID:27332903 PMID:27435932 PMID:27532257 PMID:27698334 PMID:27707468 PMID:27831900 PMID:27884173 PMID:27930701 PMID:28074886 PMID:28087426 PMID:28152038 PMID:28166811 PMID:28254189 PMID:28255936 PMID:28301460 PMID:28341588 PMID:28416588 PMID:28442525 PMID:28471438 PMID:28472724 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28588093 PMID:28611029 PMID:28759816 PMID:28798025 PMID:28912206 PMID:29062697 PMID:29247119 PMID:29253866 PMID:29420653 PMID:29511324 PMID:29606362 PMID:29750433 PMID:29759408 PMID:29802319 PMID:29892087 PMID:29915097 PMID:29997227 PMID:30012837 PMID:30165862 PMID:30286183 PMID:30354334 PMID:30382575 PMID:30731207 PMID:30775854 PMID:30820396 PMID:30847666 PMID:30919684 PMID:30975432 PMID:30993396 PMID:31028357 PMID:31118017 PMID:31194698 PMID:31264976 PMID:31317183 PMID:31319917 PMID:31333075 PMID:31386562 PMID:31402444 PMID:31447099 PMID:31514951 PMID:31568572 PMID:31737537 PMID:31983221 PMID:32005173 PMID:32593191 PMID:34213952 More...
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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
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
G
Dnm1l
dynamin 1-like
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9
ClinVar
PMID:15489853 PMID:23911551 PMID:27030002 PMID:27066507 PMID:28416588 PMID:28492532 PMID:29038103 More...
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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
G
Dsp
desmoplakin
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9
ClinVar
PMID:25741868 PMID:25820315 PMID:28492532
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
G
Fgd4
FYVE, RhoGEF and PH domain containing 4
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9
ClinVar
PMID:15489853 PMID:23911551 PMID:27030002 PMID:27066507 PMID:28416588 PMID:28492532 PMID:29038103 More...
NCBI chr11:84,399,885...84,551,013
Ensembl chr11:84,399,816...84,546,972
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
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
G
Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9
ClinVar
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
G
Pkp2
plakophilin 2
ISO
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9
OMIM ClinVar
PMID:2163603 PMID:2412583 PMID:9536098 PMID:15489853 PMID:16101641 PMID:16199547 PMID:16415378 PMID:16549640 PMID:16567567 PMID:16774985 PMID:16893920 PMID:17010805 PMID:17041889 PMID:17363426 PMID:17372169 PMID:17521752 PMID:17556197 PMID:17576681 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:20573160 PMID:20646679 PMID:20716751 PMID:20829228 PMID:20857253 PMID:20864495 PMID:20890277 PMID:21062920 PMID:21301620 PMID:21378009 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21822014 PMID:21859740 PMID:22019812 PMID:22035158 PMID:22036071 PMID:22085907 PMID:22170284 PMID:22177269 PMID:22214898 PMID:22781308 PMID:22889254 PMID:23137101 PMID:23178689 PMID:23270881 PMID:23299917 PMID:23347029 PMID:23354045 PMID:23396983 PMID:23486541 PMID:23514727 PMID:23671136 PMID:23810883 PMID:23810894 PMID:23812740 PMID:23861362 PMID:23863954 PMID:23871674 PMID:23871885 PMID:23889974 PMID:23911551 PMID:23962865 PMID:23973953 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24200904 PMID:24200905 PMID:24352520 PMID:24503780 PMID:24558114 PMID:24585727 PMID:24632794 PMID:24704780 PMID:24768880 PMID:24784157 PMID:24832006 PMID:24967631 PMID:24981977 PMID:25087486 PMID:25157032 PMID:25163546 PMID:25196244 PMID:25326635 PMID:25332820 PMID:25351510 PMID:25395996 PMID:25445213 PMID:25447171 PMID:25525159 PMID:25616645 PMID:25637381 PMID:25640679 PMID:25650408 PMID:25676813 PMID:25741868 PMID:25741869 PMID:25765472 PMID:25820315 PMID:25825243 PMID:25825460 PMID:25857910 PMID:25971409 PMID:25979592 PMID:25998140 PMID:26220970 PMID:26230511 PMID:26264440 PMID:26332594 PMID:26406308 PMID:26498160 PMID:26656175 PMID:26676851 PMID:26701096 PMID:26743238 PMID:26850880 PMID:26887364 PMID:27000522 PMID:27005929 PMID:27030002 PMID:27066507 PMID:27085656 PMID:27114410 PMID:27122407 PMID:27153395 PMID:27335691 PMID:27532257 PMID:27711072 PMID:27727376 PMID:27930701 PMID:28069705 PMID:28074886 PMID:28097316 PMID:28166282 PMID:28166811 PMID:28177452 PMID:28253841 PMID:28255936 PMID:28301460 PMID:28341588 PMID:28359509 PMID:28416588 PMID:28431057 PMID:28471438 PMID:28472724 PMID:28492532 PMID:28518168 PMID:28588093 PMID:28600387 PMID:28611399 PMID:28705875 PMID:28750076 PMID:28807990 PMID:29038103 PMID:29099038 PMID:29128982 PMID:29178656 PMID:29221435 PMID:29247119 PMID:29288195 PMID:29343803 PMID:29497013 PMID:29511324 PMID:29540472 PMID:29582136 PMID:29802319 PMID:29940860 PMID:29997227 PMID:30161220 PMID:30279520 PMID:30354609 PMID:30385303 PMID:30445427 PMID:30562116 PMID:30571190 PMID:30615648 PMID:30656044 PMID:30662450 PMID:30677492 PMID:30700137 PMID:30764827 PMID:30765282 PMID:30790397 PMID:30821013 PMID:30847666 PMID:30985088 PMID:31319917 PMID:31333075 PMID:31386562 PMID:31402444 PMID:31447099 PMID:31514951 PMID:31539150 PMID:31568572 PMID:31638835 PMID:31702781 PMID:31737537 PMID:31983221 PMID:32183154 PMID:32372669 PMID:32600061 PMID:32880476 PMID:32906206 PMID:33087929 PMID:33232181 PMID:34540771 More...
NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
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:24503780 PMID:25741868 PMID:27532257 PMID:28492532 More...
NCBI chr 4:10,010,574...10,252,152
Ensembl chr 4:10,010,890...10,252,142
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
G
Ttn
titin
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9
ClinVar
PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26567375 PMID:28492532 PMID:29253866 More...
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
G
Yars2
tyrosyl-tRNA synthetase 2
ISO
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9
ClinVar
PMID:15489853 PMID:23911551 PMID:27030002 PMID:27066507 PMID:28416588 PMID:28492532 PMID:29038103 More...
NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
G
Dsp
desmoplakin
ISO
ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8769422 PMID:9229116 PMID:9536098 PMID:10594734 PMID:11063735 PMID:11278896 PMID:11841538 PMID:15210133 PMID:15941723 PMID:16061754 PMID:16175511 PMID:16199547 PMID:16467215 PMID:16628197 PMID:16774985 PMID:16917092 PMID:17576681 PMID:18382419 PMID:18632414 PMID:19095136 PMID:19279339 PMID:19558499 PMID:19597050 PMID:19763152 PMID:19863551 PMID:19924139 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20307669 PMID:20400443 PMID:20435227 PMID:20525856 PMID:20716751 PMID:20738328 PMID:20829228 PMID:20864495 PMID:20940358 PMID:21062920 PMID:21193976 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22214898 PMID:22216297 PMID:22406018 PMID:22555271 PMID:22795705 PMID:22949226 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23465283 PMID:23514727 PMID:23524727 PMID:23671136 PMID:23810894 PMID:23812740 PMID:23861362 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24440382 PMID:24448499 PMID:24503780 PMID:24598986 PMID:24704780 PMID:24784157 PMID:24825141 PMID:24938629 PMID:24967631 PMID:24981977 PMID:25157032 PMID:25163546 PMID:25196244 PMID:25225338 PMID:25227139 PMID:25344691 PMID:25351510 PMID:25403600 PMID:25447171 PMID:25516398 PMID:25525159 PMID:25550050 PMID:25569433 PMID:25616645 PMID:25637381 PMID:25661095 PMID:25676813 PMID:25691752 PMID:25693453 PMID:25741868 PMID:25765472 PMID:25820315 PMID:26073755 PMID:26138720 PMID:26148547 PMID:26187847 PMID:26220970 PMID:26230511 PMID:26314686 PMID:26332594 PMID:26383259 PMID:26399581 PMID:26406308 PMID:26498160 PMID:26569459 PMID:26585738 PMID:26604139 PMID:26656175 PMID:26688388 PMID:26735901 PMID:26743238 PMID:26833927 PMID:26850880 PMID:26899768 PMID:27000522 PMID:27097650 PMID:27153395 PMID:27194543 PMID:27329731 PMID:27332903 PMID:27435932 PMID:27532257 PMID:27698334 PMID:27707468 PMID:27831900 PMID:27884173 PMID:27930701 PMID:28074886 PMID:28087426 PMID:28152038 PMID:28166811 PMID:28254189 PMID:28255936 PMID:28301460 PMID:28341588 PMID:28416588 PMID:28442525 PMID:28471438 PMID:28472724 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28588093 PMID:28611029 PMID:28759816 PMID:28798025 PMID:28912206 PMID:29062697 PMID:29247119 PMID:29253866 PMID:29420653 PMID:29511324 PMID:29606362 PMID:29750433 PMID:29759408 PMID:29802319 PMID:29892087 PMID:29915097 PMID:29997227 PMID:30012837 PMID:30165862 PMID:30354334 PMID:30382575 PMID:30731207 PMID:30775854 PMID:30820396 PMID:30847666 PMID:30919684 PMID:30975432 PMID:30993396 PMID:31118017 PMID:31194698 PMID:31264976 PMID:31317183 PMID:31319917 PMID:31333075 PMID:31386562 PMID:31402444 PMID:31447099 PMID:31514951 PMID:31568572 PMID:31737537 PMID:31983221 PMID:32005173 PMID:32593191 PMID:34213952 More...
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
G
Dsp
desmoplakin
ISO
ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
OMIM ClinVar
PMID:15941723 PMID:16628197 PMID:16774985 PMID:16917092 PMID:20716751 PMID:20940358 PMID:21606396 PMID:22795705 PMID:22949226 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25225338 PMID:25227139 PMID:25351510 PMID:25525159 PMID:25741868 PMID:26187847 PMID:26332594 PMID:26604139 PMID:26833927 PMID:27000522 PMID:27532257 PMID:28166811 PMID:28492532 PMID:28527814 More...
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
G
Abcb6
ATP binding cassette subfamily B member 6
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
G
Ankzf1
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,688,223...76,695,141
Ensembl chr 9:76,688,194...76,696,469
G
Atg9a
autophagy related 9A
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,677,403...76,688,035
Ensembl chr 9:76,677,404...76,687,986
G
Bcs1l
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
G
Catip
ciliogenesis associated TTC17 interacting protein
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:75,945,933...75,953,618
Ensembl chr 9:75,945,961...75,953,607
G
Cdk5r2
cyclin-dependent kinase 5 regulatory subunit 2
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344
G
Cfap65
cilia and flagella associated protein 65
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128
G
Cnot9
CCR4-NOT transcription complex subunit 9
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100
G
Cnppd1
cyclin Pas1/PHO80 domain containing 1
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188
G
Cryba2
crystallin, beta A2
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460
G
Ctdsp1
CTD small phosphatase 1
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297
G
Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
G
Des
desmin
ISO
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2R | ClinVar Annotator: match by term: DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY | ClinVar Annotator: match by term: Dilated cardiomyopathy 1F | ClinVar Annotator: match by term: Myofibrillar myopathy 1 CTD Direct Evidence: marker/mechanism protein:altered expression:cardiomyocyte:
OMIM ClinVar CTD RGD
PMID:5828910 PMID:7672786 PMID:8114783 PMID:9382102 PMID:9536098 PMID:9697706 PMID:9736733 PMID:10430757 PMID:10545598 PMID:10717012 PMID:10905661 PMID:10970245 PMID:11061256 PMID:11073539 PMID:11668632 PMID:11728149 PMID:12410397 PMID:12609507 PMID:12620971 PMID:12766977 PMID:14326018 PMID:14711882 PMID:14724127 PMID:14991347 PMID:15050448 PMID:15477095 PMID:15759133 PMID:15800015 PMID:16009553 PMID:16199547 PMID:16217025 PMID:16449718 PMID:16519886 PMID:16806931 PMID:16828798 PMID:16865695 PMID:16890305 PMID:17105773 PMID:17188893 PMID:17221859 PMID:17325244 PMID:17418574 PMID:17439987 PMID:17576681 PMID:17626518 PMID:17720647 PMID:18061454 PMID:18414213 PMID:18539904 PMID:18563598 PMID:18653338 PMID:18765652 PMID:19005210 PMID:19105189 PMID:19151983 PMID:19181099 PMID:19433360 PMID:19587455 PMID:19716701 PMID:19763525 PMID:19879535 PMID:20171226 PMID:20301672 PMID:20423733 PMID:20448486 PMID:20474083 PMID:20696008 PMID:20718792 PMID:20829228 PMID:20981092 PMID:21262226 PMID:21520333 PMID:21842594 PMID:22106715 PMID:22153487 PMID:22215463 PMID:22275259 PMID:22337857 PMID:22395865 PMID:22403400 PMID:22484823 PMID:23032110 PMID:23143191 PMID:23155419 PMID:23168288 PMID:23299917 PMID:23300193 PMID:23349452 PMID:23396983 PMID:23425003 PMID:23575897 PMID:23687351 PMID:23785128 PMID:23806086 PMID:23815709 PMID:23861362 PMID:24033266 PMID:24088041 PMID:24200904 PMID:24503780 PMID:25171807 PMID:25179549 PMID:25214167 PMID:25394388 PMID:25557463 PMID:25590979 PMID:25617006 PMID:25736269 PMID:25741868 PMID:25928149 PMID:26097489 PMID:26265630 PMID:26272908 PMID:26431784 PMID:26467025 PMID:26633545 PMID:26676851 PMID:26724190 PMID:26789769 PMID:27393313 PMID:27532257 PMID:27854218 PMID:27896284 PMID:27930701 PMID:28166811 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28703267 PMID:29034897 PMID:29212896 PMID:29247119 PMID:29382405 PMID:29386531 PMID:29447731 PMID:29915097 PMID:29926427 PMID:30055862 PMID:30614851 PMID:30615648 PMID:30764827 PMID:30847666 PMID:31371504 PMID:31718026 PMID:31953240 PMID:32093415 PMID:32150461 PMID:32403337 PMID:33023321 PMID:33652119 PMID:28341603 More...
RGD:13542086
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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Dnajb2
DnaJ heat shock protein family (Hsp40) member B2
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
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Dnpep
aspartyl aminopeptidase
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716
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Fev
FEV transcription factor, ETS family member
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065
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Glb1l
galactosidase, beta 1-like
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510
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Ihh
Indian hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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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
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Mir26b
microRNA 26b
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680
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Mir375
microRNA 375
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
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Nhej1
nonhomologous end-joining factor 1
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
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Plcd4
phospholipase C, delta 4
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453
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Pnkd
PNKD metallo-beta-lactamase domain containing
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124
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Prkag3
protein kinase AMP-activated non-catalytic subunit gamma 3
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959
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Ptprn
protein tyrosine phosphatase, receptor type, N
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
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Resp18
regulated endocrine-specific protein 18
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
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Retreg2
reticulophagy regulator family member 2
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395
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Rnf25
ring finger protein 25
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849
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Slc11a1
solute carrier family 11 member 1
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Slc23a3
solute carrier family 23, member 3
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366
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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
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Speg
striated muscle enriched protein kinase
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144
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Stk16
serine/threonine kinase 16
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855
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Stk36
serine/threonine kinase 36
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422
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Tmbim1
transmembrane BAX inhibitor motif containing 1
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069
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Ttll4
tubulin tyrosine ligase like 4
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301
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Tuba4a
tubulin, alpha 4A
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
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Usp37
ubiquitin specific peptidase 37
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044
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Vil1
villin 1
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Wnt6
Wnt family member 6
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523
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Zfand2b
zinc finger AN1-type containing 2B
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445
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Zfp142
zinc finger protein 142
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856
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Jup
junction plakoglobin
ISO
ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Mal de Naxos | ClinVar Annotator: match by term: Naxos disease
OMIM ClinVar
PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:17576681 PMID:18672408 PMID:18937352 PMID:19067702 PMID:19863551 PMID:20031617 PMID:20130592 PMID:20525856 PMID:20857253 PMID:20864495 PMID:21320868 PMID:21606396 PMID:21668431 PMID:21859740 PMID:23299917 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24125834 PMID:24238504 PMID:24503780 PMID:24884844 PMID:25351510 PMID:25445213 PMID:25616645 PMID:25741868 PMID:25765472 PMID:25820315 PMID:26073755 PMID:26220970 PMID:26230511 PMID:26272908 PMID:27037756 PMID:27532257 PMID:27662471 PMID:27930701 PMID:28098346 PMID:28166811 PMID:28341588 PMID:28416588 PMID:28471438 PMID:28492532 PMID:28798025 PMID:28831623 PMID:28855170 PMID:29247119 PMID:29334134 PMID:29619247 PMID:31275992 PMID:31402444 PMID:31983221 PMID:32212272 PMID:32880476 More...
NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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