RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | intrinsic cardiomyopathy |
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Accession: | DOID:0060036
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browse the term
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Definition: | A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. (DO) |
For additional species annotation, visit the
Alliance of Genome Resources.
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Actn2 |
actinin alpha 2 |
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ISO |
ClinVar Annotator: match by term: Intrinsic cardiomyopathy |
ClinVar |
PMID:20474083 PMID:25741868 PMID:31333075 PMID:32973354 |
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NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
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Daam1 |
dishevelled associated activator of morphogenesis 1 |
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ISS |
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MouseDO |
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NCBI chr 6:90,389,544...90,550,114
Ensembl chr 6:90,389,688...90,550,114
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Myh7 |
myosin heavy chain 7 |
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ISO |
protein:increased expression:heart (human) |
RGD |
PMID:27249171 |
RGD:155646134 |
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Nppa |
natriuretic peptide A |
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ISO |
protein:increased expression:heart (human) |
RGD |
PMID:27249171 |
RGD:155646134 |
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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Traf6 |
TNF receptor associated factor 6 |
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ISO |
protein:increased expression:heart (human) |
RGD |
PMID:27249171 |
RGD:155646134 |
NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507
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Ccdc39 |
coiled-coil domain containing 39 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
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Dnajc19 |
DnaJ heat shock protein family (Hsp40) member C19 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 |
OMIM ClinVar |
PMID:9536098 PMID:16055927 PMID:17576681 PMID:22797137 PMID:22981120 PMID:25741868 PMID:27426421 PMID:27928778 PMID:28492532 PMID:34008892 More...
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NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
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Fxr1 |
FMR1 autosomal homolog 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:116,884,167...116,937,586
Ensembl chr 2:116,884,248...116,937,590
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Kcnj2 |
potassium inwardly-rectifying channel, subfamily J, member 2 |
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ISO |
ClinVar Annotator: match by term: Andersen Syndrome | ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:11371347 PMID:11841151 PMID:11861044 PMID:12045162 PMID:12086641 PMID:12148092 PMID:12163457 PMID:12689820 PMID:12796536 PMID:12909315 PMID:14522976 PMID:15028050 PMID:15757667 PMID:15761194 PMID:15831539 PMID:15851159 PMID:15852530 PMID:15911703 PMID:15922306 PMID:16217063 PMID:16419128 PMID:16541386 PMID:16571646 PMID:16818210 PMID:17074642 PMID:17119796 PMID:17210839 PMID:17211524 PMID:17221872 PMID:17324964 PMID:17341397 PMID:17399642 PMID:17399643 PMID:17568571 PMID:17581963 PMID:17582433 PMID:17655675 PMID:18452873 PMID:18554214 PMID:19041665 PMID:19111761 PMID:19201608 PMID:19570891 PMID:19862833 PMID:19931173 PMID:20382953 PMID:20647529 PMID:20713726 PMID:21875779 PMID:22002906 PMID:22166941 PMID:22186697 PMID:22286118 PMID:22308236 PMID:22581653 PMID:22589293 PMID:22806368 PMID:22944906 PMID:23516313 PMID:23595086 PMID:23631430 PMID:23644778 PMID:23861362 PMID:23867365 PMID:24025405 PMID:24033266 PMID:24047492 PMID:24211314 PMID:24383070 PMID:24388587 PMID:24721648 PMID:24861851 PMID:25223803 PMID:25284084 PMID:25351510 PMID:25410959 PMID:25415519 PMID:25637381 PMID:25741868 PMID:25847018 PMID:26109178 PMID:26304528 PMID:26467025 PMID:26937109 PMID:27145478 PMID:27456059 PMID:27789106 PMID:27920829 PMID:28003625 PMID:28024840 PMID:28166811 PMID:28336205 PMID:28341588 PMID:28492532 PMID:28501311 PMID:28589536 PMID:28600387 PMID:28606196 PMID:28711067 PMID:28798025 PMID:29247119 PMID:29606556 PMID:29874177 PMID:29915097 PMID:30298493 PMID:30516834 PMID:30615648 PMID:30975432 PMID:31068157 PMID:31483760 PMID:31521807 PMID:31534214 PMID:31737537 PMID:31890843 PMID:32145446 PMID:32184906 PMID:32299589 PMID:32499698 PMID:33057326 PMID:34426522 PMID:34516623 More...
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NCBI chr10:96,060,849...96,071,401
Ensembl chr10:96,060,821...96,071,445
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Kcnj5 |
potassium inwardly-rectifying channel, subfamily J, member 5 |
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ISO |
ClinVar Annotator: match by term: Andersen Tawil syndrome |
ClinVar |
PMID:20560207 PMID:21311022 PMID:22203740 PMID:24574546 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
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Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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ISO |
ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy |
ClinVar |
PMID:21686774 |
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
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ISO |
ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy |
OMIM ClinVar |
PMID:21686774 |
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NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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Abcc9 |
ATP binding cassette subfamily C member 9 |
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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...
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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 |
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ISO |
DNA:polymorphism: : ClinVar Annotator: match by term: Cardiomyopathy, ARVC |
ClinVar RGD |
PMID:25224718 PMID:25741868 PMID:28492532 PMID:31956495 PMID:11078270 |
RGD:13506947 |
NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
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Akap9 |
A-kinase anchoring protein 9 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:21898660 PMID:23861362 PMID:25741868 PMID:28492532 PMID:29382405 PMID:30615648 PMID:33658040 PMID:34426522 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:23861362 PMID:25447171 PMID:25661095 PMID:25741868 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:25741868 |
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NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
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Calr3 |
calreticulin 3 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:17655857 PMID:23861362 PMID:28492532 |
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NCBI chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015
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Cdh2 |
cadherin 2 |
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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 |
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ISO |
DNA:mutation:cds:c.1203G>C (p.E401D)(human) ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC |
ClinVar RGD |
PMID:10717012 PMID:10905661 PMID:14991347 PMID:15050448 PMID:21262226 PMID:22153487 PMID:23425003 PMID:24033266 PMID:25741868 PMID:27532257 PMID:27854218 PMID:28492532 PMID:31718026 PMID:33023321 PMID:29212896 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID: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:20864495 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:24832006 PMID:24967631 PMID:25163546 PMID:25351510 PMID:25447171 PMID:25569433 PMID:25637381 PMID:25741868 PMID:26138720 PMID:26332594 PMID:26656175 PMID:26743238 PMID:27153395 PMID:28255936 PMID:28492532 PMID:28798025 PMID:29367541 PMID:29802319 PMID:31333075 PMID:31402444 PMID:31568572 More...
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NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
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Dsg2 |
desmoglein 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:2040044 PMID:12586364 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:23137101 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:24967631 PMID:25087486 PMID:25172079 PMID:25213555 PMID:25332820 PMID:25351510 PMID:25445213 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25765472 PMID:25820315 PMID:26138720 PMID:26220970 PMID:26230511 PMID:26688388 PMID:26899768 PMID:27194543 PMID:27532257 PMID:27930701 PMID:28255936 PMID:28283360 PMID:28323875 PMID:28341588 PMID:28471438 PMID:28492532 PMID:28578331 PMID:28818065 PMID:29038103 PMID:29062102 PMID:29178656 PMID:29343803 PMID:29396286 PMID:29544605 PMID:29606362 PMID:29759408 PMID:30454721 PMID:30790397 PMID:30847666 PMID:30885746 PMID:31019283 PMID:31333075 PMID:31386562 PMID:31402444 PMID:31542937 PMID:31568572 PMID:31845994 PMID:31983221 PMID:32746448 PMID:32880476 PMID:33232181 PMID:33652588 PMID:33673806 PMID:34012299 PMID:34317382 PMID:35087879 PMID:35300203 More...
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NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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Dsp |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Right ventricular cardiomyopathy |
ClinVar RGD |
PMID:9536098 PMID:10395892 PMID:10594734 PMID:11063735 PMID:15941723 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:22240500 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:25163546 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:26606670 PMID:26656175 PMID:26850880 PMID:26899768 PMID:27000522 PMID:27097650 PMID:27153395 PMID:27435932 PMID:27532257 PMID:28045975 PMID:28074886 PMID:28087426 PMID:28254189 PMID:28416588 PMID:28471438 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28588093 PMID:28611029 PMID:28759816 PMID:28798025 PMID:29062697 PMID:29253866 PMID:29892087 PMID:29915098 PMID:30354334 PMID:30398466 PMID:30775854 PMID:30847666 PMID:31110529 PMID:31264976 PMID:31317183 PMID:31378211 PMID:31386562 PMID:31402444 PMID:31447099 PMID:31514951 PMID:31737537 PMID:31785789 PMID:32277046 PMID:32372669 PMID:33313835 PMID:33652588 PMID:34290054 PMID:35083019 PMID:12875771 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
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NCBI chr 9:45,388,979...45,462,530
Ensembl chr 9:45,388,981...45,431,192
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Flnc |
filamin C |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32112656 |
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NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
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Gja1 |
gap junction protein, alpha 1 |
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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 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
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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 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
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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 |
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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 |
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ISO |
protein:altered expression:ventricle ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC |
ClinVar RGD |
PMID:24033266 PMID:24884844 PMID:25741868 PMID:28492532 PMID:23178689 |
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 |
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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 PMID:30847666 PMID:31447099 PMID:31737537 PMID:31835641 PMID:31941373 PMID:32058015 PMID:32344329 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Cardiomyopathy, ARVC |
ClinVar |
PMID:15176425 PMID:16244680 PMID:22402334 PMID:22581653 PMID:25741868 PMID:28492532 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30847666 PMID:31333075 PMID:31568572 PMID:32880476 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:20474083 PMID:23861362 PMID:24033266 PMID:25179549 PMID:25351510 PMID:25741868 PMID:28492532 PMID:30847666 More...
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NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
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G |
Lmna |
lamin A/C |
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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:31447099 PMID:31829210 PMID:34363016 PMID:25837155 More...
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RGD:11056513 |
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Myh6 |
myosin heavy chain 6 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28991257 PMID:29132927 |
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NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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G |
Myh7 |
myosin heavy chain 7 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic 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...
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NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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G |
Myl2 |
myosin light chain 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 PMID:28611029 |
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NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983
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G |
Myom1 |
myomesin 1 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
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G |
Mypn |
myopalladin |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29016939 PMID:31983221 |
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NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
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G |
Pdlim3 |
PDZ and LIM domain 3 |
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ISS |
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MouseDO |
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NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657
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G |
Pkp2 |
plakophilin 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia |
ClinVar RGD |
PMID:2412583 PMID: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:21378009 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21822014 PMID:21859740 PMID:22019812 PMID:22036071 PMID:22085907 PMID:22177269 PMID:22214898 PMID:22458570 PMID:22781308 PMID:23137101 PMID:23178689 PMID:23183494 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:24125834 PMID:24200904 PMID:24200905 PMID:24352520 PMID:24503780 PMID:24558114 PMID:24585727 PMID:24618965 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:26138720 PMID:26264440 PMID:26314686 PMID:26332594 PMID:26406308 PMID:26467025 PMID:26498160 PMID:26656175 PMID:26676851 PMID:26743238 PMID:26850880 PMID:27153395 PMID:27194543 PMID:27335691 PMID:27532257 PMID:27650965 PMID:27727376 PMID:27831900 PMID:27930701 PMID:28069705 PMID:28166282 PMID:28177452 PMID:28253841 PMID:28255936 PMID:28301460 PMID:28341588 PMID:28359509 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:29221435 PMID:29288195 PMID:29582136 PMID:29606362 PMID:29802319 PMID:29915097 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:31156706 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:32522011 PMID:32600061 PMID:33087929 PMID:33232181 PMID:33238575 PMID:35535697 PMID:16567567 PMID:15489853 More...
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RGD:1580872, RGD:1580873 |
NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
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G |
Ppp1r13l |
protein phosphatase 1, regulatory subunit 13 like |
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ISS |
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MouseDO |
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NCBI chr 1:79,010,997...79,030,714
Ensembl chr 1:79,011,745...79,030,712
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Rbm20 |
RNA binding motif protein 20 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC |
ClinVar |
PMID:23396983 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26498160 PMID:26656175 PMID:27296017 PMID:28492532 PMID:29892087 PMID:30775854 More...
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NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060
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G |
RGD1310553 |
similar to expressed sequence AI597479 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
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NCBI chr 9:45,371,396...45,382,123
Ensembl chr 9:45,371,430...45,382,120
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G |
Ryr2 |
ryanodine receptor 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Right ventricular cardiomyopathy |
ClinVar RGD |
PMID:11159936 PMID:12093772 PMID:12459180 PMID:16769042 PMID:18326664 PMID:19709828 PMID:19926015 PMID:21315846 PMID:22677073 PMID:22787013 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:27646203 PMID:27650965 PMID:28087566 PMID:28150229 PMID:28404607 PMID:28492532 PMID:28771489 PMID:29477366 PMID:29874177 PMID:31112425 PMID:31337358 PMID:32233023 PMID:11159936 More...
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RGD:1599243 |
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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G |
Scn5a |
sodium voltage-gated channel alpha subunit 5 |
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ISO |
protein:altered expression:ventricle ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia |
ClinVar RGD |
PMID:10973849 PMID:11222472 PMID:12354768 PMID:12820704 PMID:14523039 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:28600387 PMID:28781330 PMID:29032884 PMID:29574140 PMID:30084490 PMID:31333075 PMID:31568572 PMID:31737537 PMID:32048431 PMID:32323320 PMID:33535892 PMID:23178689 More...
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RGD:11352402 |
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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G |
Sgca |
sarcoglycan, alpha |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:79,904,698...79,922,813
Ensembl chr10:79,908,738...79,922,813
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G |
Sos1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:17143282 PMID:17143285 PMID:17586837 PMID:19953625 PMID:20981092 PMID:23487764 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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G |
Tax1bp3 |
Tax1 binding protein 3 |
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ISO |
ClinVar Annotator: match by term: TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:25645515 PMID:25741868 PMID:32576985 |
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NCBI chr10:57,795,785...57,800,363
Ensembl chr10:57,795,382...57,800,363
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G |
Tgfb3 |
transforming growth factor, beta 3 |
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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...
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NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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G |
Tmem43 |
transmembrane protein 43 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:18313022 PMID:18414213 PMID:19467449 PMID:20010364 PMID:21214875 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:28471438 PMID:28491673 PMID:28492532 PMID:29040414 PMID:29980933 PMID:30700137 More...
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NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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G |
Tmpo |
thymopoietin |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 PMID:25741868 PMID:28074886 PMID:28492532 PMID:30327538 More...
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NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
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G |
Trpm4 |
transient receptor potential cation channel, subfamily M, member 4 |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:21887725 PMID:25741868 PMID:26820365 PMID:28492532 PMID:30391667 PMID:30535908 More...
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NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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G |
Ttn |
titin |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Right ventricular cardiomyopathy |
ClinVar |
PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25016126 PMID:25448463 PMID:25741868 PMID:26467025 PMID:26498160 PMID:26516846 PMID:27662471 PMID:28492532 PMID:28750076 PMID:28771489 PMID:28857138 PMID:30564623 More...
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NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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G |
Xpc |
XPC complex subunit, DNA damage recognition and repair factor |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 |
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NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010
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G |
Dsc2 |
desmocollin 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 |
ClinVar |
PMID:19863551 PMID:23299917 PMID:25637381 PMID:25741868 |
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NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
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G |
Dsg2 |
desmoglein 2 |
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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 PMID:35819174 More...
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NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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G |
Dsp |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 |
ClinVar |
PMID:21723241 PMID:24070718 PMID:25741868 PMID:26138720 PMID:28492532 |
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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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:28518168 PMID:30446606 PMID:30645170 PMID:30731207 PMID:30871747 PMID:30972196 PMID:31376648 PMID:31453232 More...
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NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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G |
Pkp2 |
plakophilin 2 |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 |
ClinVar |
PMID:19863551 PMID:24704780 PMID:25741868 PMID:28492532 |
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NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
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G |
Plec |
plectin |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
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G |
Ryr2 |
ryanodine receptor 2 |
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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:28492532 |
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NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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G |
Tgfb3 |
transforming growth factor, beta 3 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 |
OMIM ClinVar |
PMID:12529708 PMID:15639475 PMID:16199547 PMID:23824657 PMID:23861362 PMID:24798638 PMID:25741868 PMID:25835445 PMID:26184463 PMID:26188975 PMID:28087566 PMID:28166282 PMID:28492532 PMID:29109152 PMID:29247119 PMID:29392890 PMID:31898322 PMID:32897753 More...
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NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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G |
Ttn |
titin |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 |
ClinVar |
PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 |
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NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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G |
Dsg2 |
desmoglein 2 |
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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:12586364 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:23137101 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:24086444 PMID:24125834 PMID:24238504 PMID:24436435 PMID:24503780 PMID:24585727 PMID:24704780 PMID:24967631 PMID:25059832 PMID:25087486 PMID:25172079 PMID:25174650 PMID:25209314 PMID:25213555 PMID:25332820 PMID:25351510 PMID:25445213 PMID:25525159 PMID:25616645 PMID:25637381 PMID:25741868 PMID:25765472 PMID:25819062 PMID:25820315 PMID:25877686 PMID:26112015 PMID:26138720 PMID:26220970 PMID:26230511 PMID:26633542 PMID:26656175 PMID:26688388 PMID:26743238 PMID:26822237 PMID:26850880 PMID:26899768 PMID:27005929 PMID:27055156 PMID:27114410 PMID:27194543 PMID:27532257 PMID:27930701 PMID:28087566 PMID:28166811 PMID:28254188 PMID:28254189 PMID:28255936 PMID:28283360 PMID:28288337 PMID:28323875 PMID:28341588 PMID:28416588 PMID:28454995 PMID:28471438 PMID:28472724 PMID:28492532 PMID:28567303 PMID:28578331 PMID:28588093 PMID:28600387 PMID:28818065 PMID:29038103 PMID:29062102 PMID:29178656 PMID:29192238 PMID:29247119 PMID:29343803 PMID:29396286 PMID:29456632 PMID:29517769 PMID:29544605 PMID:29606362 PMID:29750433 PMID:29759408 PMID:29773157 PMID:29802319 PMID:29899727 PMID:30177324 PMID:30391969 PMID:30454721 PMID:30471092 PMID:30533233 PMID:30615648 PMID:30731207 PMID:30790397 PMID:30847666 PMID:30885746 PMID:30975432 PMID:30985088 PMID:30993396 PMID:31019283 PMID:31386562 PMID:31402444 PMID:31447099 PMID:31542937 PMID:31638835 PMID:31737537 PMID:31845994 PMID:31983221 PMID:32102357 PMID:32516855 PMID:32659924 PMID:32665702 PMID:32746448 PMID:32880476 PMID:33029862 PMID:33087929 PMID:33232181 PMID:33238575 PMID:33500567 PMID:33652588 PMID:33673806 PMID:34012299 PMID:34317382 PMID:35087879 PMID:35300203 PMID:35819174 More...
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NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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G |
Dsg3 |
desmoglein 3 |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 |
ClinVar |
PMID:17105751 PMID:28492532 PMID:31386562 |
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NCBI chr18:11,798,905...11,833,415
Ensembl chr18:11,798,900...11,830,818
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G |
Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 |
ClinVar |
PMID:25741868 |
|
NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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G |
Ttr |
transthyretin |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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|
G |
Dsc2 |
desmocollin 2 |
|
ISO |
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair |
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:21606390 PMID:21606396 PMID:21636032 PMID:21822014 PMID:21859740 PMID:22458570 PMID:22722193 PMID:23147450 PMID:23292937 PMID:23299917 PMID:23396983 PMID:23514727 PMID:23671136 PMID:23757202 PMID:23810894 PMID:23812740 PMID:23826350 PMID:23861362 PMID:23863954 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 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:26332594 PMID:26498160 PMID:26656175 PMID:26743238 PMID:26768331 PMID:26780541 PMID:27000522 PMID:27153395 PMID:27532257 PMID:27884173 PMID:27930701 PMID:28153106 PMID:28166811 PMID:28255936 PMID:28288337 PMID:28341588 PMID:28416588 PMID:28471438 PMID:28492532 PMID:28588093 PMID:28798025 PMID:29032884 PMID:29178656 PMID:29255176 PMID:29367541 PMID:29590070 PMID:29641836 PMID:29750433 PMID:29802319 PMID:30122538 PMID:30790397 PMID:30847666 PMID:31333075 PMID:31386562 PMID:31397097 PMID:31402444 PMID:31534214 PMID:31568572 PMID:31638835 PMID:31737537 PMID:31970460 PMID:31983221 PMID:32009526 PMID:32665702 PMID:32746448 PMID:32853555 PMID:32880476 PMID:33087929 PMID:33652588 PMID:33684294 PMID:34135346 PMID:35276540 More...
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NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
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G |
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:16199547 PMID:16467215 PMID:18672408 PMID:19863551 PMID:20031617 PMID:20130592 PMID:20152563 PMID:20525856 PMID:20857253 PMID:20864495 PMID:21606396 PMID:21668431 PMID:21859740 PMID:23299917 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24125834 PMID:24238504 PMID:24503780 PMID:25351510 PMID:25363760 PMID:25363768 PMID:25445213 PMID:25616645 PMID:25741868 PMID:25820315 PMID:26073755 PMID:26220970 PMID:26230511 PMID:26272908 PMID:27005929 PMID:27037756 PMID:27532257 PMID:27662471 PMID:27930701 PMID:28166811 PMID:28341588 PMID:28471438 PMID:28492532 PMID:28831623 PMID:28855170 PMID:29247119 PMID:29334134 PMID:29517769 PMID:29606362 PMID:29892012 PMID:30775854 PMID:30847666 PMID:31275992 PMID:31402444 PMID:31983221 PMID:32212272 PMID:32233023 PMID:32268277 PMID:32746448 PMID:32880476 PMID:34011629 PMID:34026867 PMID:35581137 More...
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NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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G |
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 PMID:30847666 PMID:32880476 PMID:33497884 More...
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NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978
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G |
Lrrtm3 |
leucine rich repeat transmembrane neuronal 3 |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 13 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:24,515,627...24,689,669
Ensembl chr20:24,515,627...24,689,669
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G |
Cdh2 |
cadherin 2 |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 14 |
OMIM ClinVar |
PMID:25741868 PMID:28280076 PMID:28492532 |
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NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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G |
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:12459180 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:19216760 PMID:19398665 PMID:19597050 PMID:19709828 PMID:19926015 PMID:20106799 PMID:20132818 PMID:20157052 PMID:21315846 PMID:21454795 PMID:21616285 PMID:21659649 PMID:21964171 PMID:22174035 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:23549275 PMID:23595086 PMID:23671135 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:26132555 PMID:26153920 PMID:26189708 PMID:26272908 PMID:26332594 PMID:26350513 PMID:26498160 PMID:26656175 PMID:26688388 PMID:26704558 PMID:26743238 PMID:26899768 PMID:27054166 PMID:27114410 PMID:27153395 PMID:27194543 PMID:27229459 PMID:27231019 PMID:27452199 PMID:27482086 PMID:27532257 PMID:27538377 PMID:27646203 PMID:27727376 PMID:27756708 PMID:27838126 PMID:27854218 PMID:27930701 PMID:28087566 PMID:28150229 PMID:28158428 PMID:28166282 PMID:28166811 PMID:28237968 PMID:28255936 PMID:28359509 PMID:28404607 PMID:28416588 PMID:28422759 PMID:28449774 PMID:28492532 PMID:28600387 PMID:28771489 PMID:28798025 PMID:28807990 PMID:28988457 PMID:29032884 PMID:29247119 PMID:29350269 PMID:29368431 PMID:29434162 PMID:29453246 PMID:29477366 PMID:29511324 PMID:29544605 PMID:29555771 PMID:29874177 PMID:30086531 PMID:30355031 PMID:30615648 PMID:30835254 PMID:30847666 PMID:30975432 PMID:31112425 PMID:31337358 PMID:31402444 PMID:31513939 PMID:31737537 PMID:31847883 PMID:31875585 PMID:31970460 PMID:32009526 PMID:32233023 PMID:32746448 PMID:33500567 PMID:33919104 More...
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NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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G |
Tnni3k |
TNNI3 interacting kinase |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268
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G |
Rpsa |
ribosomal protein SA |
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ISS |
OMIM:604400 |
MouseDO |
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NCBI chr 8:119,851,225...119,855,103
Ensembl chr 8:119,851,225...119,855,247
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G |
Tmem43 |
transmembrane protein 43 |
|
ISO |
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 5 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230648 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:26214305 PMID:26467025 PMID:26513349 PMID:26743238 PMID:26840987 PMID:27005929 PMID:27153395 PMID:27532257 PMID:28087566 PMID:28166811 PMID:28301460 PMID:28341588 PMID:28471438 PMID:28491673 PMID:28492532 PMID:28750076 PMID:29040414 PMID:29192238 PMID:29311375 PMID:29980933 PMID:30206291 PMID:30276209 PMID:30471092 PMID:30615648 PMID:30700137 PMID:30847666 PMID:30975432 PMID:31333075 PMID:31376648 PMID:31568572 PMID:33552729 PMID:33652588 PMID:33968641 PMID:34050020 More...
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NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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G |
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:20857253 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:22240500 PMID:22406018 PMID:22555271 PMID:22949226 PMID:22995991 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23465283 PMID:23514727 PMID:23524727 PMID:23651034 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:24967631 PMID:24981977 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:25856671 PMID:25979592 PMID:26073755 PMID:26138720 PMID:26187847 PMID:26220970 PMID:26230511 PMID:26265630 PMID:26272908 PMID:26314686 PMID:26332594 PMID:26383259 PMID:26399581 PMID:26406308 PMID:26498160 PMID:26569459 PMID:26585738 PMID:26604139 PMID:26606670 PMID:26656175 PMID:26675346 PMID:26688388 PMID:26735901 PMID:26743238 PMID:26833927 PMID:26850880 PMID:26899768 PMID:27000522 PMID:27097650 PMID:27135274 PMID:27153395 PMID:27329731 PMID:27332903 PMID:27374306 PMID:27435932 PMID:27532257 PMID:27707468 PMID:27831900 PMID:27884173 PMID:27930701 PMID:28045975 PMID:28074886 PMID:28087426 PMID:28152038 PMID:28166811 PMID:28254189 PMID:28255936 PMID:28288337 PMID:28301460 PMID:28341588 PMID:28359509 PMID:28416588 PMID:28436997 PMID:28442525 PMID:28471438 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28588093 PMID:28600387 PMID:28611029 PMID:28759816 PMID:28767663 PMID:28798025 PMID:28912206 PMID:29016939 PMID:29032884 PMID:29062697 PMID:29178656 PMID:29181379 PMID:29192238 PMID:29247119 PMID:29253866 PMID:29255176 PMID:29334134 PMID:29420653 PMID:29511324 PMID:29590070 PMID:29606362 PMID:29607617 PMID:29633331 PMID:29750433 PMID:29759408 PMID:29802319 PMID:29892087 PMID:29915098 PMID:29997227 PMID:30012837 PMID:30086531 PMID:30165862 PMID:30276209 PMID:30286183 PMID:30345701 PMID:30354334 PMID:30382575 PMID:30398466 PMID:30453078 PMID:30700137 PMID:30731207 PMID:30775854 PMID:30820396 PMID:30847666 PMID:30919684 PMID:30975432 PMID:30993396 PMID:31028357 PMID:31110529 PMID:31118017 PMID:31194698 PMID:31195250 PMID:31264976 PMID:31317183 PMID:31333075 PMID:31378211 PMID:31386562 PMID:31402444 PMID:31447099 PMID:31514951 PMID:31568572 PMID:31638414 PMID:31737537 PMID:31785789 PMID:31983221 PMID:32005173 PMID:32277046 PMID:32372669 PMID:32410525 PMID:32546831 PMID:32593191 PMID:32600061 PMID:32659924 PMID:32746448 PMID:32808748 PMID:32879264 PMID:32880476 PMID:32931854 PMID:32942234 PMID:33082984 PMID:33232181 PMID:33313835 PMID:33500567 PMID:33552729 PMID:33652588 PMID:33857019 PMID:34033898 PMID:34137518 PMID:34213952 PMID:34290054 PMID:34317553 PMID:35083019 PMID:35087879 More...
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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G |
Tubb3 |
tubulin, beta 3 class III |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 |
ClinVar |
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NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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G |
Des |
desmin |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:25741868 |
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NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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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...
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NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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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 |
Dsg2 |
desmoglein 2 |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:16199547 PMID:16773573 PMID:17105751 PMID:19151369 PMID:19863551 PMID:20031617 PMID:20152563 PMID:20400443 PMID:20857253 PMID:23671136 PMID:24033266 PMID:25741868 PMID:25820315 PMID:27532257 PMID:28283360 PMID:28492532 PMID:28600387 PMID:30731207 PMID:30790397 PMID:31386562 PMID:31402444 PMID:33238575 More...
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NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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G |
Dsp |
desmoplakin |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:20716751 PMID:24503780 PMID:25227139 PMID:25741868 PMID:25820315 PMID:28492532 PMID:30345701 PMID:30700137 More...
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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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...
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NCBI chr11:84,399,885...84,551,013
Ensembl chr11:84,399,816...84,546,972
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G |
Lmna |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Myh6 |
myosin heavy chain 6 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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G |
Myh7 |
myosin heavy chain 7 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
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NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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G |
Pkp2 |
plakophilin 2 |
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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:17908752 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:22458570 PMID:22781308 PMID:22889254 PMID:23137101 PMID:23178689 PMID:23183494 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:24618965 PMID:24632794 PMID:24704780 PMID:24768880 PMID:24784157 PMID:24832006 PMID:24967631 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:26138720 PMID:26220970 PMID:26230511 PMID:26264440 PMID:26314686 PMID:26332594 PMID:26406308 PMID:26467025 PMID:26498160 PMID:26656175 PMID:26676851 PMID:26701096 PMID:26743238 PMID:26850880 PMID:27000522 PMID:27005929 PMID:27030002 PMID:27066507 PMID:27085656 PMID:27114410 PMID:27122407 PMID:27153395 PMID:27335691 PMID:27532257 PMID:27650965 PMID:27711072 PMID:27727376 PMID:27831900 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:29172153 PMID:29178656 PMID:29192238 PMID:29221435 PMID:29247119 PMID:29288195 PMID:29343803 PMID:29456632 PMID:29511324 PMID:29540472 PMID:29582136 PMID:29606362 PMID:29802319 PMID:29915097 PMID:29940860 PMID:29961461 PMID:29997227 PMID:30161220 PMID:30260051 PMID:30279520 PMID:30354609 PMID:30385303 PMID:30445427 PMID:30471092 PMID:30562116 PMID:30571190 PMID:30615648 PMID:30656044 PMID:30662450 PMID:30677492 PMID:30678776 PMID:30685992 PMID:30700137 PMID:30764827 PMID:30765282 PMID:30790397 PMID:30821013 PMID:30847666 PMID:30985088 PMID:31156706 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:32397162 PMID:32443836 PMID:32522011 PMID:32600061 PMID:32659924 PMID:32746448 PMID:32880476 PMID:32906206 PMID:33087929 PMID:33232181 PMID:33919104 PMID:34120153 PMID:34135346 PMID:34426522 PMID:34469894 PMID:34540771 PMID:34816084 PMID:35535697 More...
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NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
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G |
Prkag2 |
protein kinase AMP-activated non-catalytic subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:14519435 PMID:24033266 PMID:24503780 PMID:25741868 PMID:27532257 PMID:28492532 PMID:29253866 More...
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NCBI chr 4:10,010,574...10,252,152
Ensembl chr 4:10,010,890...10,252,142
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G |
Ryr2 |
ryanodine receptor 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:25741868 |
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NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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G |
Ttn |
titin |
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ISO |
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26567375 PMID:26676851 PMID:28492532 PMID:29253866 More...
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NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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G |
Yars2 |
tyrosyl-tRNA synthetase 2 |
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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...
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NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
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G |
Myo6 |
myosin VI |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22 |
OMIM ClinVar |
PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 PMID:16199547 PMID:17576681 PMID:18212818 PMID:18348273 PMID:23767834 PMID:24033266 PMID:25741868 PMID:25741877 PMID:25999546 PMID:26445815 PMID:26467025 PMID:26969326 PMID:28492532 PMID:30311386 PMID:30582396 PMID:31589614 PMID:32747562 More...
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NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292
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G |
Lmna |
lamin A/C |
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ISO |
DNA:missense mutations:cds:multiple (human) |
RGD |
PMID:10580070 |
RGD:11066902 |
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Lrrc53 |
leucine rich repeat containing 53 |
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ISO |
ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30010057 PMID:34203974 |
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NCBI chr 2:243,781,445...243,807,037
Ensembl chr 2:243,769,297...243,803,164
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G |
Tnni3k |
TNNI3 interacting kinase |
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ISO |
ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy |
OMIM ClinVar |
PMID:24925317 PMID:25741868 PMID:25791106 PMID:28492532 PMID:29355681 PMID:30010057 PMID:34203974 More...
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NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268
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G |
Dsp |
desmoplakin |
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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:20857253 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:22240500 PMID:22406018 PMID:22555271 PMID:22795705 PMID:22949226 PMID:22995991 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23465283 PMID:23514727 PMID:23524727 PMID:23651034 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:24967631 PMID:24981977 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:25856671 PMID:25979592 PMID:26073755 PMID:26138720 PMID:26187847 PMID:26220970 PMID:26230511 PMID:26265630 PMID:26272908 PMID:26314686 PMID:26332594 PMID:26383259 PMID:26399581 PMID:26406308 PMID:26498160 PMID:26569459 PMID:26585738 PMID:26604139 PMID:26606670 PMID:26656175 PMID:26675346 PMID:26688388 PMID:26735901 PMID:26743238 PMID:26833927 PMID:26850880 PMID:26899768 PMID:27000522 PMID:27097650 PMID:27135274 PMID:27153395 PMID:27329731 PMID:27332903 PMID:27374306 PMID:27435932 PMID:27532257 PMID:27707468 PMID:27831900 PMID:27884173 PMID:27930701 PMID:28045975 PMID:28074886 PMID:28087426 PMID:28152038 PMID:28166811 PMID:28254189 PMID:28255936 PMID:28288337 PMID:28301460 PMID:28341588 PMID:28359509 PMID:28416588 PMID:28436997 PMID:28442525 PMID:28471438 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28588093 PMID:28600387 PMID:28611029 PMID:28759816 PMID:28767663 PMID:28798025 PMID:28912206 PMID:29016939 PMID:29032884 PMID:29062697 PMID:29178656 PMID:29181379 PMID:29192238 PMID:29247119 PMID:29253866 PMID:29255176 PMID:29334134 PMID:29420653 PMID:29511324 PMID:29590070 PMID:29606362 PMID:29607617 PMID:29633331 PMID:29750433 PMID:29759408 PMID:29802319 PMID:29892087 PMID:29915098 PMID:29997227 PMID:30012837 PMID:30086531 PMID:30165862 PMID:30276209 PMID:30345701 PMID:30354334 PMID:30382575 PMID:30398466 PMID:30453078 PMID:30700137 PMID:30731207 PMID:30775854 PMID:30820396 PMID:30847666 PMID:30919684 PMID:30975432 PMID:30993396 PMID:31110529 PMID:31118017 PMID:31194698 PMID:31195250 PMID:31264976 PMID:31317183 PMID:31333075 PMID:31378211 PMID:31386562 PMID:31402444 PMID:31447099 PMID:31514951 PMID:31568572 PMID:31638414 PMID:31737537 PMID:31785789 PMID:31983221 PMID:32005173 PMID:32277046 PMID:32372669 PMID:32410525 PMID:32546831 PMID:32593191 PMID:32600061 PMID:32659924 PMID:32746448 PMID:32808748 PMID:32879264 PMID:32880476 PMID:32931854 PMID:32942234 PMID:33082984 PMID:33232181 PMID:33313835 PMID:33500567 PMID:33552729 PMID:33652588 PMID:33857019 PMID:34033898 PMID:34137518 PMID:34213952 PMID:34290054 PMID:34317553 PMID:35083019 PMID:35087879 More...
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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G |
Ank2 |
ankyrin 2 |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:16253912 PMID:22581653 PMID:25741868 PMID:28166811 PMID:28492532 |
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NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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G |
Calm1 |
calmodulin 1 |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:23040497 PMID:23388215 PMID:24563457 PMID:24816216 PMID:25557436 PMID:25741868 PMID:26164367 PMID:26309258 PMID:27165696 PMID:28492532 More...
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NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227
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G |
Casq2 |
calsequestrin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC |
CTD ClinVar |
PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 PMID:16601229 PMID:17881003 PMID:18469084 PMID:18543230 PMID:18583715 PMID:18684293 PMID:19398665 PMID:19709828 PMID:20301466 PMID:20353949 PMID:20530761 PMID:21063088 PMID:21076409 PMID:21265816 PMID:21454795 PMID:21618644 PMID:22421959 PMID:22553997 PMID:23286974 PMID:23861362 PMID:24025405 PMID:24033266 PMID:24503780 PMID:25163546 PMID:25351510 PMID:25651173 PMID:25691538 PMID:25741868 PMID:26671417 PMID:27157848 PMID:27930701 PMID:28361054 PMID:28404607 PMID:28492532 PMID:29255176 PMID:29544605 PMID:29915098 PMID:30600839 PMID:30615648 PMID:30775854 PMID:30847666 PMID:31482657 PMID:31589614 PMID:31983221 PMID:32298319 PMID:32574564 PMID:32693635 More...
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NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
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G |
Dmpk |
DM1 protein kinase |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
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NCBI chr 1:78,730,255...78,740,585
Ensembl chr 1:78,730,275...78,740,593
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G |
Dsg2 |
desmoglein 2 |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 PMID:19569224 PMID:19955750 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20716751 PMID:20857253 PMID:20864495 PMID:21455723 PMID:21606390 PMID:23810883 PMID:23861362 PMID:24033266 PMID:24055113 PMID:25741868 PMID:28492532 PMID:29038103 PMID:35087879 More...
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NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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G |
Dsp |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 PMID:33552729 |
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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G |
Kcnh2 |
potassium voltage-gated channel subfamily H member 2 |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
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NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
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G |
Lama4 |
laminin subunit alpha 4 |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
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NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
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G |
Lmna |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia |
ClinVar |
PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:15843404 PMID:17107595 PMID:19524666 PMID:23861362 PMID:23977161 PMID:24033266 PMID:24503780 PMID:24623722 PMID:24794538 PMID:25448463 PMID:25741868 PMID:27532257 PMID:28492532 PMID:28531892 PMID:30420677 PMID:32041611 PMID:32376792 PMID:32793522 PMID:32880476 More...
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Mybpc3 |
myosin binding protein C3 |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:28600387 |
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NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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G |
Ryr2 |
ryanodine receptor 2 |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC |
OMIM ClinVar |
PMID:1992601 PMID:9536098 PMID:11157710 PMID:11159936 PMID:11208676 PMID:12093772 PMID:12106942 PMID:12459180 PMID:12837242 PMID:12919952 PMID:14571276 PMID:15197150 PMID:15466642 PMID:15544015 PMID:15721128 PMID:15749201 PMID:15890976 PMID:16188589 PMID:16239587 PMID:16272262 PMID:16436635 PMID:16769042 PMID:16843546 PMID:16873551 PMID:17062961 PMID:17558603 PMID:17576681 PMID:17875969 PMID:18092949 PMID:18326664 PMID:18752142 PMID:18849218 PMID:19102802 PMID:19216760 PMID:19226252 PMID:19398665 PMID:19597050 PMID:19709828 PMID:19926015 PMID:20106799 PMID:20132818 PMID:20157052 PMID:20301466 PMID:20851825 PMID:21315846 PMID:21454795 PMID:21616285 PMID:21659649 PMID:21768539 PMID:21954897 PMID:21964171 PMID:22068070 PMID:22221940 PMID:22222782 PMID:22373669 PMID:22374134 PMID:22396703 PMID:22515980 PMID:22677073 PMID:22787013 PMID:22956155 PMID:23022705 PMID:23098067 PMID:23204524 PMID:23286974 PMID:23396983 PMID:23549275 PMID:23595086 PMID:23671135 PMID:23810894 PMID:23820649 PMID:23861362 PMID:23871484 PMID:24025405 PMID:24033266 PMID:24055113 PMID:24136861 PMID:24447446 PMID:24503780 PMID:24558114 PMID:24631775 PMID:24978818 PMID:24981977 PMID:25041964 PMID:25087098 PMID:25092222 PMID:25163546 PMID:25193700 PMID:25194972 PMID:25351510 PMID:25370123 PMID:25440180 PMID:25467552 PMID:25554238 PMID:25616645 PMID:25637381 PMID:25650408 PMID:25713214 PMID:25741868 PMID:25814417 PMID:25820315 PMID:25844899 PMID:25925909 PMID:26112015 PMID:26114861 PMID:26132555 PMID:26153920 PMID:26189708 PMID:26272908 PMID:26332594 PMID:26350513 PMID:26498160 PMID:26633542 PMID:26656175 PMID:26688388 PMID:26704558 PMID:26743238 PMID:26899768 PMID:27054166 PMID:27114410 PMID:27153395 PMID:27194543 PMID:27229459 PMID:27231019 PMID:27251404 PMID:27353043 PMID:27435932 PMID:27452199 PMID:27482086 PMID:27532257 PMID:27538377 PMID:27646203 PMID:27650965 PMID:27727376 PMID:27756708 PMID:27838126 PMID:27854218 PMID:27930701 PMID:28087566 PMID:28100344 PMID:28125075 PMID:28135719 PMID:28150229 PMID:28158428 PMID:28166811 PMID:28191890 PMID:28237968 PMID:28255936 PMID:28404607 PMID:28422759 PMID:28449774 PMID:28492532 PMID:28567303 PMID:28600387 PMID:28620067 PMID:28771489 PMID:28789916 PMID:28798025 PMID:28807990 PMID:28961276 PMID:28988457 PMID:29032884 PMID:29247119 PMID:29350269 PMID:29368431 PMID:29396286 PMID:29434162 PMID:29453246 PMID:29477366 PMID:29511324 PMID:29544605 PMID:29568272 PMID:29874177 PMID:29951146 PMID:30086531 PMID:30355031 PMID:30403697 PMID:30615648 PMID:30696458 PMID:30763784 PMID:30835254 PMID:30847666 PMID:30975432 PMID:31057083 PMID:31112425 PMID:31231889 PMID:31337358 PMID:31402444 PMID:31513939 PMID:31737537 PMID:31847883 PMID:31875585 PMID:31931689 PMID:31970460 PMID:32009526 PMID:32048431 PMID:32152366 PMID:32233023 PMID:32746448 PMID:32899693 PMID:33500567 PMID:33536282 PMID:33686871 PMID:33919104 More...
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NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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G |
Scn5a |
sodium voltage-gated channel alpha subunit 5 |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia |
ClinVar |
PMID:15840476 PMID:19841300 PMID:20129283 PMID:22581653 PMID:23805106 PMID:24033266 PMID:25351510 PMID:25741868 PMID:25904541 PMID:28492532 PMID:28600387 PMID:32048431 More...
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NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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G |
Tpm1 |
tropomyosin 1 |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
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G |
Trdn |
triadin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:22422768 PMID:24025405 PMID:24033266 PMID:25741868 PMID:25922419 PMID:26200674 PMID:27538377 PMID:28341588 PMID:28492532 PMID:32746448 PMID:33432171 More...
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NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595
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G |
Trpm4 |
transient receptor potential cation channel, subfamily M, member 4 |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
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NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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G |
Vangl1 |
VANGL planar cell polarity protein 1 |
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ISO |
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619
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G |
Abcc9 |
ATP binding cassette subfamily C member 9 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar RGD |
PMID:12166651 PMID:20474083 PMID:24033266 PMID:25741868 PMID:28492532 PMID:15034580 More...
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RGD:1300328 |
NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
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G |
Abcc9_v1 |
ATP binding cassette subfamily C member 9, variant 1 |
susceptibility |
ISO |
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RGD |
PMID:15034580 |
RGD:1300328 |
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G |
Abra |
actin-binding Rho activating protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16243910 |
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NCBI chr 7:72,970,187...72,974,255
Ensembl chr 7:72,970,186...72,974,255
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G |
Acadvl |
acyl-CoA dehydrogenase, very long chain |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:21932095 PMID:25087612 PMID:25741868 PMID:26385305 PMID:27209629 PMID:28468868 PMID:28492532 PMID:31031081 More...
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NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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G |
Ace |
angiotensin I converting enzyme |
no_association |
ISO |
DNA:insertion/deletion:intron |
RGD |
PMID:9270088 |
RGD:1566491 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Actc1 |
actin, alpha, cardiac muscle 1 |
susceptibility |
ISO |
DNA:point mutations: :p.Arg312His, p.Glu361Gly (human) ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 PMID:16611632 PMID:17611253 PMID:17623677 PMID:17916152 PMID:17947298 PMID:18379140 PMID:18400036 PMID:18506004 PMID:18519860 PMID:18801786 PMID:19184181 PMID:19467449 PMID:19799913 PMID:20497191 PMID:20965760 PMID:21297463 PMID:21524215 PMID:21551322 PMID:21622575 PMID:24033266 PMID:24503780 PMID:24736382 PMID:25201647 PMID:25741868 PMID:27532257 PMID:28492532 PMID:30371277 PMID:9563954 More...
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RGD:1559158 |
NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
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G |
Actn2 |
actinin alpha 2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:14567970 PMID:17097056 PMID:20022194 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25224718 PMID:25741868 PMID:26899768 PMID:27896284 PMID:28492532 More...
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NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
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G |
Adrb1 |
adrenoceptor beta 1 |
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IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9554809 PMID:18287209 |
RGD:5129132 |
NCBI chr 1:255,772,217...255,773,617
Ensembl chr 1:255,771,597...255,807,259
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G |
Adrb2 |
adrenoceptor beta 2 |
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IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11986409 PMID:18287209 |
RGD:5129132 |
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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G |
Agt |
angiotensinogen |
no_association treatment |
ISO IEP |
DNA:polymorphisms: :p.T174M, p.M235T (human) |
RGD |
PMID:9270088 PMID:22120037 |
RGD:1566491, RGD:8549486 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Agtr1a |
angiotensin II receptor, type 1a |
treatment |
IMP IEP |
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RGD |
PMID:20886512 PMID:22120037 |
RGD:5129198, RGD:8549486 |
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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G |
Agtr2 |
angiotensin II receptor, type 2 |
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ISO IEP |
mRNA, protein:increased expression:heart left ventricle |
RGD |
PMID:9815151 PMID:22120037 |
RGD:6903900, RGD:8549486 |
NCBI chr X:112,119,673...112,124,060
Ensembl chr X:112,120,228...112,124,057
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G |
Akap9 |
A-kinase anchoring protein 9 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 |
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NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
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G |
Alms1 |
ALMS1, centrosome and basal body associated protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22447358 |
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NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
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G |
Ank2 |
ankyrin 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23861362 PMID:25351510 PMID:25741868 PMID:28341588 PMID:28492532 PMID:30415094 More...
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NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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G |
Ankrd1 |
ankyrin repeat domain 1 |
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ISO |
DNA:missense mutations:multiple (human) ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar RGD |
PMID:9536098 PMID:17576681 PMID:18273862 PMID:19525294 PMID:19589340 PMID:19608030 PMID:19608031 PMID:21520333 PMID:22337857 PMID:22388920 PMID:22892539 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25089522 PMID:25741868 PMID:27114410 PMID:27143260 PMID:27532257 PMID:28166811 PMID:28492532 PMID:28672880 PMID:28794111 PMID:29447731 PMID:30659708 PMID:30847666 PMID:31737537 PMID:31983221 PMID:32880476 PMID:19525294 More...
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RGD:5133277 |
NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
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G |
Ankrd37 |
ankyrin repeat domain 37 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:46,269,025...46,271,971
Ensembl chr16:46,268,443...46,271,963
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G |
Apoe |
apolipoprotein E |
susceptibility |
ISO |
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RGD |
PMID:16714771 |
RGD:1601240 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Arvcf |
ARVCF, delta catenin family member |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr11:82,588,137...82,645,805
Ensembl chr11:82,587,881...82,645,805
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G |
Atm |
ATM serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24358288 |
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
Axin2 |
axin 2 |
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ISO IEP |
CTD Direct Evidence: marker/mechanism protein:decreased expression:lung |
CTD RGD |
PMID:29394407 PMID:33092439 |
RGD:151356921 |
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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G |
Bag3 |
BAG cochaperone 3 |
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ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:2159883 PMID:21353195 PMID:21459883 PMID:21898660 PMID:22337857 PMID:23861362 PMID:24033266 PMID:24558114 PMID:24623017 PMID:25008357 PMID:25448463 PMID:25728519 PMID:25741868 PMID:25925243 PMID:26467025 PMID:27042682 PMID:27896284 PMID:28166811 PMID:28436997 PMID:28492532 PMID:28669108 PMID:28737513 PMID:28798025 PMID:30012837 PMID:30442290 PMID:30847666 PMID:31333075 PMID:31568572 PMID:32458740 PMID:34213952 More...
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NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
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G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
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RGD |
PMID:23980359 PMID:26004897 |
RGD:10054117, RGD:13782348 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Bcl2 |
BCL2, apoptosis regulator |
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IEP |
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RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Bcl2l1 |
Bcl2-like 1 |
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IEP |
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RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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G |
C16h4orf47 |
similar to human chromosome 4 open reading frame 47 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
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G |
Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23677916 PMID:24033266 PMID:25184293 PMID:25741868 PMID:28492532 PMID:30027834 More...
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NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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G |
Cacnb2 |
calcium voltage-gated channel auxiliary subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 |
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NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
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G |
Cacnb4 |
calcium voltage-gated channel auxiliary subunit beta 4 |
susceptibility |
ISO |
DNA:SNPs:introns: |
RGD |
PMID:29495422 |
RGD:13515053 |
NCBI chr 3:36,906,771...37,169,191
Ensembl chr 3:36,910,427...37,168,944
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G |
Cacng8 |
calcium voltage-gated channel auxiliary subunit gamma 8 |
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ISO |
mRNA,protein:decreased expression:left ventricule: |
RGD |
PMID:26710323 |
RGD:11353143 |
NCBI chr 1:65,755,334...65,775,567
Ensembl chr 1:65,755,334...65,779,089
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G |
Calr3 |
calreticulin 3 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015
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G |
Cap2 |
cyclase associated actin cytoskeleton regulatory protein 2 |
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ISS |
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MouseDO |
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NCBI chr17:18,054,234...18,203,453
Ensembl chr17:18,054,431...18,203,373
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G |
Casp3 |
caspase 3 |
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IEP |
|
RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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G |
Casp8 |
caspase 8 |
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IEP |
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RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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G |
Casp9 |
caspase 9 |
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IEP |
|
RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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G |
Casq2 |
calsequestrin 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:20530761 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
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G |
Casz1 |
castor zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 5:159,243,965...159,393,935
Ensembl chr 5:159,243,995...159,393,400
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G |
Cat |
catalase |
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ISO |
|
RGD |
PMID:10652196 |
RGD:1581150 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Ccdc110 |
coiled-coil domain containing 110 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:46,315,745...46,337,050
Ensembl chr16:46,315,745...46,337,021
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G |
Cd27 |
CD27 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12031769 |
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NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
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G |
Cd36 |
CD36 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10981864 |
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NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G |
Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:9495297 |
RGD:13702889 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd70 |
Cd70 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12031769 |
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NCBI chr 9:2,006,563...2,009,715
Ensembl chr 9:2,006,563...2,009,715
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G |
Cdk8 |
cyclin-dependent kinase 8 |
susceptibility |
ISO |
DNA:SNPs, haplotype:intron: (rs17083838, rs7992670) (human) |
RGD |
PMID:34815954 |
RGD:155260314 |
NCBI chr12:8,737,198...8,805,026
Ensembl chr12:8,737,262...8,804,177
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G |
Cenpf |
centromere protein F |
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ISS |
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MouseDO |
|
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NCBI chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669
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G |
Cep85l |
centrosomal protein 85-like |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:12610310 PMID:12639993 PMID:16235537 PMID:16897780 PMID:17655857 PMID:18056057 PMID:19139388 PMID:21167350 PMID:21282613 PMID:21332051 PMID:22137083 PMID:22427649 PMID:22707725 PMID:23308118 PMID:23861362 PMID:24033266 PMID:25351510 PMID:25593317 PMID:25611685 PMID:25691538 PMID:25741868 PMID:25852082 PMID:25928149 PMID:26535225 PMID:26917049 PMID:27532257 PMID:28492532 PMID:28600387 PMID:30012515 PMID:30012837 PMID:30847666 More...
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NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
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G |
Cfap97 |
cilia and flagella associated protein 97 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:46,086,104...46,135,194
Ensembl chr16:46,086,111...46,125,933
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G |
Chrm2 |
cholinergic receptor, muscarinic 2 |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23408450 PMID:24033266 PMID:28166811 PMID:28492532 |
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NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
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G |
Comt |
catechol-O-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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G |
Cox7a1 |
cytochrome c oxidase subunit 7A1 |
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ISS |
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MouseDO |
|
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NCBI chr 1:85,422,162...85,447,530
Ensembl chr 1:85,441,871...85,445,151
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G |
Creb1 |
cAMP responsive element binding protein 1 |
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ISO |
|
RGD |
PMID:9616213 |
RGD:734815 |
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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G |
Cryab |
crystallin, alpha B |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:19597569 PMID:26402864 PMID:28492532 |
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NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
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G |
Csf3 |
colony stimulating factor 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17334414 |
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NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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G |
Csrnp1 |
cysteine and serine rich nuclear protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16243910 |
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NCBI chr 8:119,704,712...119,717,767
Ensembl chr 8:119,704,713...119,718,183
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G |
Csrp3 |
cysteine and glycine rich protein 3 |
|
ISO |
DNA:missense mutation:cds:p.W4R (human) ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar RGD |
PMID:9039266 PMID:12507422 PMID:14567970 PMID:15781201 PMID:16352453 PMID:17084280 PMID:18505755 PMID:20044516 PMID:20474083 PMID:23396983 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26656175 PMID:28492532 PMID:12507422 PMID:9637704 More...
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RGD:734841, RGD:734837 |
NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653
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G |
Ctf1 |
cardiotrophin 1 |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar RGD |
PMID:11058912 PMID:24033266 PMID:25741868 PMID:26084686 PMID:27149842 PMID:28492532 PMID:11058912 More...
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RGD:1626410 |
NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
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G |
Ctnna3 |
catenin alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29394407 PMID:20376467 |
RGD:13524857 |
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
Ctsl |
cathepsin L |
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ISS |
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MouseDO |
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NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
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IEP |
mRNA:increased expression:left ventricle myocardium |
RGD |
PMID:20868517 |
RGD:5134996 |
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
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IDA |
|
RGD |
PMID:15322218 |
RGD:1598502 |
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
mRNA,protein:increased expression:blood cells, serum: |
RGD |
PMID:26893848 |
RGD:124713562 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Cyp2c6v1 |
cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 |
|
ISO |
mRNA,protein:increased expression:blood cells, serum: |
RGD |
PMID:26893848 |
RGD:124713562 |
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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G |
Dag1 |
dystroglycan 1 |
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ISS |
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MouseDO |
|
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NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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G |
Des |
desmin |
|
ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy DNA:mutation:cds:c.679C>T(p.R227C)(human) protein:altered expression:cardiomyocyte: |
ClinVar RGD |
PMID:9382102 PMID:10717012 PMID:11073539 PMID:12620971 PMID:14724127 PMID:15800015 PMID:17221859 PMID:17325244 PMID:17439987 PMID:17720647 PMID:18061454 PMID:18653338 PMID:19151983 PMID:19181099 PMID:19587455 PMID:19716701 PMID:19763525 PMID:19879535 PMID:20171226 PMID:20423733 PMID:20448486 PMID:20474083 PMID:20696008 PMID:20981092 PMID:22106715 PMID:22153487 PMID:22215463 PMID:22275259 PMID:22337857 PMID:22403400 PMID:22484823 PMID:23143191 PMID:23155419 PMID:23299917 PMID:23349452 PMID:23815709 PMID:23861362 PMID:24033266 PMID:24088041 PMID:24503780 PMID:25394388 PMID:25557463 PMID:25590979 PMID:25617006 PMID:25741868 PMID:26467025 PMID:26633545 PMID:27393313 PMID:27532257 PMID:27810088 PMID:27854218 PMID:27896284 PMID:28256728 PMID:28492532 PMID:28611029 PMID:29247119 PMID:29386531 PMID:29915714 PMID:29926427 PMID:30023281 PMID:30615648 PMID:31609036 PMID:31912959 PMID:32093415 PMID:32403337 PMID:33874732 PMID:34426522 PMID:10591032 PMID:28171858 PMID:29556622 More...
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RGD:13525010, RGD:13592594, RGD:13542087 |
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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G |
Dicer1 |
dicer 1 ribonuclease III |
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ISS |
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MouseDO |
|
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NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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G |
Dmd |
dystrophin |
severity |
ISO IMP |
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy CTD Direct Evidence: marker/mechanism mRNA, protein:decreased expression:myocardium |
ClinVar CTD RGD |
PMID:11496434 PMID:12359139 PMID:19409785 PMID:19937601 PMID:21396098 PMID:21969337 PMID:23299917 PMID:24033266 PMID:24055113 PMID:25637381 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32559196 PMID:12359139 PMID:19194174 PMID:25310701 PMID:20373002 More...
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RGD:1580858, RGD:13702900, RGD:12880034, RGD:6771365 |
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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G |
Dmdem1Ang |
dystrophin; TALEN-induced mutant1, Ang |
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IMP |
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RGD |
PMID:25310701 |
RGD:12880034 |
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G |
Dnaaf3 |
dynein, axonemal, assembly factor 3 |
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ISO |
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive |
ClinVar |
PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
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G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
|
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NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
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G |
Dnm1l |
dynamin 1-like |
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ISS |
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MouseDO |
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NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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G |
Dolk |
dolichol kinase |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 3:13,557,826...13,559,864
Ensembl chr 3:13,557,817...13,559,917
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G |
Dpp6 |
dipeptidyl peptidase like 6 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
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NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532
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G |
Dsc2 |
desmocollin 2 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
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G |
Dsg2 |
desmoglein 2 |
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ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19569224 PMID:20031616 PMID:20603720 PMID:20716751 PMID:20857253 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:23178689 PMID:23299917 PMID:23671136 PMID:23861362 PMID:23889974 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24503780 PMID:24704780 PMID:25059832 PMID:25332820 PMID:25445213 PMID:25637381 PMID:25741868 PMID:25820315 PMID:26230511 PMID:27114410 PMID:27532257 PMID:28087566 PMID:28323875 PMID:28492532 PMID:28600387 PMID:29802319 PMID:30885746 PMID:31983221 More...
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NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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G |
Dsp |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar RGD |
PMID:9536098 PMID:10594734 PMID:11063735 PMID:16061754 PMID:16467215 PMID:16774985 PMID:16917092 PMID:17576681 PMID:18382419 PMID:19095136 PMID:19279339 PMID:19558499 PMID:20435227 PMID:20716751 PMID:20829228 PMID:20864495 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21859740 PMID:23292937 PMID:23299917 PMID:23396983 PMID:23810894 PMID:23861362 PMID:24033266 PMID:24070718 PMID:24125834 PMID:24503780 PMID:25163546 PMID:25225338 PMID:25227139 PMID:25351510 PMID:25516398 PMID:25616645 PMID:25637381 PMID:25661095 PMID:25676813 PMID:25741868 PMID:26073755 PMID:26230511 PMID:26399581 PMID:26606670 PMID:26656175 PMID:26743238 PMID:26850880 PMID:27097650 PMID:27153395 PMID:27532257 PMID:28074886 PMID:28166811 PMID:28288337 PMID:28416588 PMID:28471438 PMID:28492532 PMID:28527814 PMID:28588093 PMID:28611029 PMID:28759816 PMID:29633331 PMID:29915098 PMID:30012837 PMID:30398466 PMID:30820396 PMID:30847666 PMID:30993396 PMID:31110529 PMID:31333075 PMID:31378211 PMID:31402444 PMID:31447099 PMID:31514951 PMID:31568572 PMID:31737537 PMID:31983221 PMID:32277046 PMID:32372669 PMID:32659924 PMID:32942234 PMID:34137518 PMID:34290054 PMID:34317553 PMID:11063735 More...
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RGD:1580891 |
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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G |
Dtna |
dystrobrevin, alpha |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr18:14,687,193...14,944,232
Ensembl chr18:14,587,852...14,944,261
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G |
Ece1 |
endothelin converting enzyme 1 |
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ISO |
|
RGD |
PMID:11145756 |
RGD:1580911 |
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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G |
Edn1 |
endothelin 1 |
severity |
ISO |
protein:increased expression:aorta, plasma (human) |
RGD |
PMID:10026353 |
RGD:8661756 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Egfr |
epidermal growth factor receptor |
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IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18599591 PMID:22646904 |
RGD:7204501 |
NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Egln1 |
egl-9 family hypoxia-inducible factor 1 |
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ISO |
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RGD |
PMID:18096761 |
RGD:11251770 |
NCBI chr19:52,867,914...52,907,169
Ensembl chr19:52,869,486...52,907,777
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G |
Elac2 |
elaC ribonuclease Z 2 |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:27769300 PMID:28492532 PMID:31045291 |
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NCBI chr10:49,632,308...49,655,614
Ensembl chr10:49,632,378...49,655,614
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G |
Emd |
emerin |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant DNA:deletion:cds:c.26_39delATACCGAGCTGACC(human) |
ClinVar RGD |
PMID:24997722 |
RGD:13592595 |
NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO ISS |
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MouseDO RGD |
PMID:12072561 |
RGD:734939 |
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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G |
Esrrb |
estrogen-related receptor beta |
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ISS |
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MouseDO |
|
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NCBI chr 6:106,007,662...106,163,136
Ensembl chr 6:106,008,095...106,160,791
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G |
Eya4 |
EYA transcriptional coactivator and phosphatase 4 |
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ISO |
DNA:deletion:introns, exon (human) ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar RGD |
PMID:10769282 PMID:15735644 PMID:17567890 PMID:24033266 PMID:15735644 |
RGD:1598455 |
NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976
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G |
Fas |
Fas cell surface death receptor |
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IEP ISO |
protein:increased expression:cardiocyte CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17943461 PMID:16761189 |
RGD:1600334 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
Fas ligand |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17943461 |
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NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Fasn |
fatty acid synthase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26670611 |
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NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261
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G |
Fhl2 |
four and a half LIM domains 2 |
|
ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17416352 PMID:17576681 PMID:24033266 PMID:25358972 PMID:25741868 PMID:26627873 PMID:28166811 PMID:28492532 PMID:31333075 PMID:31568572 More...
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|
NCBI chr 9:45,388,979...45,462,530
Ensembl chr 9:45,388,981...45,431,192
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G |
Fhod3 |
formin homology 2 domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088304 PMID:25741868 |
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NCBI chr18:15,993,079...16,425,796
Ensembl chr18:15,993,324...16,425,796
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G |
Fkrp |
fukutin related protein |
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ISO |
DNA:missense mutation:exon:p.L276I (826C>A) (human) ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar RGD |
PMID:11741828 PMID:16344347 PMID:17994539 PMID:18832576 PMID:22451200 PMID:25741868 PMID:27884173 PMID:28492532 PMID:28688748 PMID:15833432 More...
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RGD:11667064 |
NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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G |
Fktn |
fukutin |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:17597323 PMID:25741868 PMID:26633542 PMID:28492532 |
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NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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G |
Flii |
FLII, actin remodeling protein |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:10862770 PMID:20661277 PMID:25741868 PMID:32870709 |
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NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970
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G |
Flnc |
filamin C |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Cardiomyopathy, fatal | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9536098 PMID:15929027 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21135393 PMID:21520333 PMID:23109048 PMID:24033266 PMID:24972929 PMID:25179549 PMID:25208129 PMID:25351925 PMID:25617006 PMID:25633252 PMID:25741868 PMID:26436962 PMID:26467025 PMID:26555887 PMID:26666891 PMID:26688388 PMID:26863999 PMID:27171548 PMID:27296017 PMID:27574918 PMID:27601210 PMID:27896284 PMID:27908349 PMID:28008423 PMID:28138913 PMID:28166811 PMID:28356264 PMID:28403181 PMID:28416588 PMID:28436997 PMID:28492532 PMID:28664140 PMID:28749476 PMID:28781516 PMID:28866788 PMID:28902392 PMID:29144512 PMID:29517769 PMID:29706348 PMID:29858533 PMID:29970176 PMID:30025578 PMID:30067491 PMID:30086531 PMID:30354339 PMID:30403391 PMID:30411535 PMID:30418145 PMID:30471092 PMID:30539912 PMID:30847666 PMID:30975432 PMID:30996762 PMID:31127727 PMID:31245841 PMID:31376648 PMID:31421687 PMID:31513939 PMID:31624253 PMID:31627847 PMID:31918855 PMID:31924696 PMID:32112656 PMID:32160020 PMID:32528171 PMID:32532510 PMID:32603605 PMID:32746448 PMID:33041974 PMID:33710525 PMID:33874732 PMID:33890751 PMID:34935411 More...
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NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
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G |
Gaa |
alpha glucosidase |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836
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G |
Gata4 |
GATA binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:18076106 PMID:20874241 PMID:24033266 PMID:25741868 PMID:27374936 PMID:28492532 More...
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NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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G |
Gata5 |
GATA binding protein 5 |
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ISO |
DNA:mutation:cds;c.719G>A(p.Gly240Asp)(human) |
RGD |
PMID:25543888 |
RGD:155260333 |
NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
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G |
Gba2 |
glucosylceramidase beta 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
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G |
Gja1 |
gap junction protein, alpha 1 |
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ISO |
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RGD |
PMID:12619876 |
RGD:1582667 |
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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G |
Gnaq |
G protein subunit alpha q |
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ISO ISS |
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MouseDO RGD |
PMID:9811897 |
RGD:1598475 |
NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
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G |
Gnb1l |
G protein subunit beta 1 like |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
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G |
Gpd1l |
glycerol-3-phosphate dehydrogenase 1-like |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
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NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723
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G |
Gpx1 |
glutathione peroxidase 1 |
susceptibility |
ISO |
DNA:polymorphism: :p.P198L (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18940188 PMID:18940188 |
RGD:2306616 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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G |
Gsk3a |
glycogen synthase kinase 3 alpha |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28701297 |
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NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
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G |
Hcn4 |
hyperpolarization activated cyclic nucleotide-gated potassium channel 4 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28341588 PMID:28492532 |
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NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
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G |
Hfe |
homeostatic iron regulator |
susceptibility |
ISO |
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RGD |
PMID:11040018 |
RGD:1582687 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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G |
Hnrnph2 |
heterogeneous nuclear ribonucleoprotein H2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive |
ClinVar |
PMID:20308327 PMID:24033266 PMID:25741868 PMID:27545675 PMID:29938792 PMID:30887513 PMID:31236915 PMID:31670473 PMID:31943778 PMID:33504798 PMID:34008892 More...
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NCBI chr X:97,780,890...97,786,846
Ensembl chr X:97,780,785...97,787,041
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G |
Hp |
haptoglobin |
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ISO |
protein:increased expression |
RGD |
PMID:16360363 |
RGD:1626345 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G |
Igf1 |
insulin-like growth factor 1 |
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ISO |
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RGD |
PMID:11934830 |
RGD:1598419 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Il10 |
interleukin 10 |
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IEP |
mRNA:decreased expression:heart left ventricle |
RGD |
PMID:19242323 |
RGD:2311057 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il13ra2 |
interleukin 13 receptor subunit alpha 2 |
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ISO |
protein:increased expression:myocardium |
RGD |
PMID:18362439 |
RGD:2298568 |
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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G |
Ilk |
integrin-linked kinase |
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ISO ISS |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar MouseDO |
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NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140
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G |
Irf4 |
interferon regulatory factor 4 |
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ISO |
protein:decreased expression:heart |
RGD |
PMID:23589561 |
RGD:11530060 |
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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G |
Itgb1 |
integrin subunit beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11884376 |
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NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195
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G |
Itgb1bp2 |
integrin subunit beta 1 binding protein 2 |
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ISO |
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RGD |
PMID:12496958 |
RGD:1582491 |
NCBI chr X:66,572,537...66,577,174
Ensembl chr X:66,572,537...66,577,174
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G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
no_association |
ISO |
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RGD |
PMID:8567977 |
RGD:1556475 |
NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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G |
Jph2 |
junctophilin 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:30384889 PMID:30615648 PMID:15541368 |
RGD:1580652 |
NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904
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G |
Jup |
junction plakoglobin |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:20031617 PMID:20857253 PMID:21859740 PMID:23861362 PMID:24033266 PMID:25616645 PMID:25741868 PMID:25820315 PMID:27532257 PMID:27662471 PMID:27930701 PMID:28471438 PMID:28492532 PMID:28831623 PMID:31402444 PMID:31983221 PMID:32233023 PMID:34026867 PMID:35581137 More...
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NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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G |
Kcnd3 |
potassium voltage-gated channel subfamily D member 3 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345
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G |
Kcne1 |
potassium voltage-gated channel subfamily E regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
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G |
Kcne2 |
potassium voltage-gated channel subfamily E regulatory subunit 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
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NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
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G |
Kcnh2 |
potassium voltage-gated channel subfamily H member 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:15176425 PMID:16244680 PMID:22402334 PMID:22581653 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
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G |
Kcnj5 |
potassium inwardly-rectifying channel, subfamily J, member 5 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
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RGD |
PMID:15864294 |
RGD:1581757 |
NCBI chr 4:178,185,418...178,218,484
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G |
Lama2 |
laminin subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:30301903 |
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NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530
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G |
Lama4 |
laminin subunit alpha 4 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28416588 PMID:28492532 PMID:31333075 PMID:31568572 More...
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NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
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G |
Lamp2 |
lysosomal-associated membrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:21415759 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
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G |
Lck |
LCK proto-oncogene, Src family tyrosine kinase |
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ISO |
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RGD |
PMID:17711737 |
RGD:2316557 |
NCBI chr 5:141,888,319...141,916,992
Ensembl chr 5:141,888,326...141,903,794
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G |
Ldb3 |
LIM domain binding 3 |
no_association |
ISO |
DNA:missense mutation:exon:p.S196L (human) ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy DNA:missense mutation: :p.D626N (human) DNA:missense mutation: :p.D117N (human) |
ClinVar RGD |
PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:19377068 PMID:19412328 PMID:20590677 PMID:20852297 PMID:22337857 PMID:22464770 PMID:22619057 PMID:22929165 PMID:22995991 PMID:23299917 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24503780 PMID:24647531 PMID:25041374 PMID:25163546 PMID:25351510 PMID:25616123 PMID:25617006 PMID:25741868 PMID:26419279 PMID:26467025 PMID:26636822 PMID:27435932 PMID:27561770 PMID:27896284 PMID:28166811 PMID:28492532 PMID:29032884 PMID:30847666 PMID:31078652 PMID:31333075 PMID:31568572 PMID:31737537 PMID:33500567 PMID:33552729 PMID:34935411 PMID:20852297 PMID:14660611 PMID:26419279 More...
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RGD:11098950, RGD:1580827, RGD:11527732 |
NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
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G |
Lef1 |
lymphoid enhancer binding factor 1 |
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ISO |
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RGD |
PMID:16738313 |
RGD:11252001 |
NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794
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G |
Lepr |
leptin receptor |
susceptibility |
ISO |
DNA:polymorphism: :p.Q223R (human) |
RGD |
PMID:19337797 |
RGD:2311129 |
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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G |
Lmna |
lamin A/C |
severity |
ISO |
associated with Muscular Dystrophy, Emery-Dreifuss;DNA:missense mutation:cds:p.H222P (mouse) ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy CTD Direct Evidence: marker/mechanism DNA:missense mutations, nonsense mutations:cds:multiple (human) DNA:missense mutations, deletion:cds:multiple (human) DNA:mutation |
ClinVar CTD RGD |
PMID:1839274 PMID:2007407 PMID:2280636 PMID:2338570 PMID:2526018 PMID:4740717 PMID:8621584 PMID:9500556 PMID:9536098 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10612827 PMID:10655060 PMID:10662742 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10814726 PMID:10868844 PMID:10908904 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102526 PMID:11102973 PMID:11136544 PMID:11138304 PMID:11180602 PMID:11231979 PMID:11342468 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11731280 PMID:11792809 PMID:11792810 PMID:11799477 PMID:11897440 PMID:12032588 PMID:12057196 PMID:12075506 PMID:12196663 PMID:12486434 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12649505 PMID:12669268 PMID:12673789 PMID:12702809 PMID:12714972 PMID:12768443 PMID:12783988 PMID:12920062 PMID:12927424 PMID:12927431 PMID:14510863 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14675861 PMID:14684700 PMID:14749366 PMID:15032975 PMID:15053843 PMID:15060110 PMID:15140538 PMID:15184648 PMID:15298354 PMID:15317753 PMID:15342704 PMID:15372542 PMID:15475483 PMID:15531479 PMID:15720451 PMID:15724423 PMID:15744034 PMID:15770669 PMID:15793835 PMID:15972724 PMID:15982412 PMID:15996213 PMID:15998779 PMID:16061563 PMID:16126733 PMID:16156025 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16218190 PMID:16266469 PMID:16278265 PMID:16364671 PMID:16386954 PMID:16407522 PMID:16415042 PMID:16459536 PMID:16537768 PMID:16584978 PMID:16585054 PMID:16630578 PMID:16671095 PMID:16715312 PMID:16738054 PMID:16772334 PMID:16809772 PMID:16965317 PMID:16990647 PMID:17076270 PMID:17250669 PMID:17250699 PMID:17334235 PMID:17377071 PMID:17386158 PMID:17459035 PMID:17459069 PMID:17469202 PMID:17511383 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17599607 PMID:17711925 PMID:17893350 PMID:17967828 PMID:17987279 PMID:18031519 PMID:18035086 PMID:18182166 PMID:18337098 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18538321 PMID:18549403 PMID:18551513 PMID:18551515 PMID:18564364 PMID:18585512 PMID:18604166 PMID:18606848 PMID:18646565 PMID:18714801 PMID:18728124 PMID:18795223 PMID:18816602 PMID:18926329 PMID:19011997 PMID:19070492 PMID:19084400 PMID:19167105 PMID:19172989 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19328042 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19524666 PMID:19574635 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19842191 PMID:19859838 PMID:19875404 PMID:19882644 PMID:19933576 PMID:20019332 PMID:20130076 PMID:20155465 PMID:20160190 PMID:20301717 PMID:20307303 PMID:20497714 PMID:20576434 PMID:20580717 PMID:20625965 PMID:20627339 PMID:20662858 PMID:20848652 PMID:20980393 PMID:21085127 PMID:21151901 PMID:21173262 PMID:21251803 PMID:21315846 PMID:21465660 PMID:21479595 PMID:21483645 PMID:21632249 PMID:21689390 PMID:21738662 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21875900 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22071332 PMID:22148005 PMID:22177269 PMID:22186027 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22337857 PMID:22355414 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22611635 PMID:22685055 PMID:22700598 PMID:22806367 PMID:22883396 PMID:22893709 PMID:22918509 PMID:23062543 PMID:23077635 PMID:23141186 PMID:23142632 PMID:23183350 PMID:23217256 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23360689 PMID:23362510 PMID:23427149 PMID:23497705 PMID:23582089 PMID:23631840 PMID:23644458 PMID:23701190 PMID:23702046 PMID:23783098 PMID:23804595 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23969228 PMID:23977161 PMID:23990565 PMID:24001739 PMID:24002959 PMID:24024053 PMID:24033266 PMID:24037902 PMID:24055113 PMID:24058181 PMID:24108105 PMID:24237251 PMID:24305605 PMID:24375749 PMID:24386194 PMID:24503780 PMID:24623722 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:24915601 PMID:25025039 PMID:25210889 PMID:25214167 PMID:25274841 PMID:25286833 PMID:25324471 PMID:25343322 PMID:25351510 PMID:25448463 PMID:25469153 PMID:25524705 PMID:25525159 PMID:25556323 PMID:25567453 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25823658 PMID:25873806 PMID:25885670 PMID:25946677 PMID:25948554 PMID:25982065 PMID:25987458 PMID:25988045 PMID:26027246 PMID:26084686 PMID:26183555 PMID:26220970 PMID:26332594 PMID:26383259 PMID:26383716 PMID:26404900 PMID:26467025 PMID:26468400 PMID:26498160 PMID:26575312 PMID:26602028 PMID:26662654 PMID:26670336 PMID:26688388 PMID:26724531 PMID:26733286 PMID:26752647 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27000522 PMID:27153395 PMID:27332903 PMID:27374873 PMID:27421120 PMID:27447704 PMID:27504462 PMID:27506821 PMID:27532257 PMID:27585670 PMID:27595935 PMID:27650965 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27854218 PMID:27884249 PMID:27886618 PMID:27896052 PMID:27896284 PMID:27919367 PMID:28069705 PMID:28074886 PMID:28087566 PMID:28125586 PMID:28255936 PMID:28341588 PMID:28416588 PMID:28436080 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28600387 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28686329 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28759816 PMID:28785654 PMID:28790152 PMID:28790155 PMID:28798025 PMID:28807990 PMID:28874324 PMID:28878338 PMID:28878402 PMID:28912206 PMID:29057633 PMID:29095976 PMID:29149195 PMID:29237675 PMID:29237690 PMID:29367541 PMID:29382405 PMID:29432544 PMID:29438482 PMID:29497013 PMID:29620724 PMID:29676528 PMID:29693488 PMID:29753763 PMID:29791652 PMID:29892087 PMID:29893365 PMID:29943882 PMID:29952368 PMID:29970176 PMID:30007954 PMID:30012837 PMID:30137533 PMID:30165862 PMID:30177912 PMID:30178466 PMID:30287275 PMID:30326651 PMID:30402260 PMID:30420677 PMID:30453078 PMID:30488537 PMID:30528549 PMID:30564623 PMID:30765282 PMID:30847666 PMID:30871747 PMID:30911407 PMID:30954027 PMID:31006814 PMID:31019283 PMID:31194872 PMID:31264968 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31525256 PMID:31744510 PMID:31829210 PMID:31836692 PMID:31857427 PMID:31977013 PMID:31980526 PMID:31983221 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32155092 PMID:32160020 PMID:32297714 PMID:32376792 PMID:32666643 PMID:32727917 PMID:32746448 PMID:32818388 PMID:32880476 PMID:32943904 PMID:33258288 PMID:33407844 PMID:33673806 PMID:34213952 PMID:34240052 PMID:34363016 PMID:34768595 PMID:34773379 PMID:34999423 PMID:35535697 PMID:17446932 PMID:22224630 PMID:12628721 PMID:18182166 PMID:18926329 More...
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RGD:2306094, RGD:11073137, RGD:1580515, RGD:2306092, RGD:2306091 |
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Lmod2 |
leiomodin 2 |
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ISS |
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MouseDO |
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NCBI chr 4:53,067,428...53,075,124
Ensembl chr 4:53,067,428...53,075,120
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G |
Lrp2bp |
Lrp2 binding protein |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:46,241,554...46,269,221
Ensembl chr16:46,243,430...46,269,642
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G |
Lrrc10 |
leucine-rich repeat-containing 10 |
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ISS ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
MouseDO ClinVar |
PMID:28166811 PMID:28492532 |
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NCBI chr 7:52,686,972...52,688,369
Ensembl chr 7:52,686,972...52,688,369
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G |
Map2k5 |
mitogen activated protein kinase kinase 5 |
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ISO |
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RGD |
PMID:11387209 |
RGD:1580866 |
NCBI chr 8:63,625,220...63,852,090
Ensembl chr 8:63,625,221...63,851,983
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G |
Map3k7 |
mitogen activated protein kinase kinase kinase 7 |
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ISO |
protein:increased phosphorylation:heart (human) |
RGD |
PMID:27249171 |
RGD:155646134 |
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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G |
Mas1 |
MAS1 proto-oncogene, G protein-coupled receptor |
treatment |
IEP |
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RGD |
PMID:22120037 |
RGD:8549486 |
NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
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G |
Mdm4 |
MDM4 regulator of p53 |
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ISS |
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MouseDO |
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NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226
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G |
Med1 |
mediator complex subunit 1 |
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ISO ISS |
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MouseDO RGD |
PMID:27548259 |
RGD:13513972 |
NCBI chr10:83,145,538...83,189,260
Ensembl chr10:83,145,568...83,189,299
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G |
Mef2a |
myocyte enhancer factor 2a |
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ISO |
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RGD |
PMID:16469744 |
RGD:1580546 |
NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948
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G |
Mef2c |
myocyte enhancer factor 2C |
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ISO |
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RGD |
PMID:16469744 |
RGD:1580546 |
NCBI chr 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880
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G |
Mfn1 |
mitofusin 1 |
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ISO |
with Mfn2 knockout |
RGD |
PMID:22052916 |
RGD:11251967 |
NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
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G |
Mfn2 |
mitofusin 2 |
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ISO |
with Mfn1 knockout |
RGD |
PMID:22052916 |
RGD:11251967 |
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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G |
Mmp1 |
matrix metallopeptidase 1 |
severity |
ISO |
mRNA:increased expression:myocardium (human) |
RGD |
PMID:17178334 PMID:12167381 |
RGD:4890382, RGD:1582541 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp13 |
matrix metallopeptidase 13 |
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ISO |
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RGD |
PMID:16037568 |
RGD:1582576 |
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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G |
Mmp14 |
matrix metallopeptidase 14 |
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ISO |
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RGD |
PMID:16037568 |
RGD:1582576 |
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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G |
Mmp2 |
matrix metallopeptidase 2 |
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ISO |
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RGD |
PMID:16037568 |
RGD:1582576 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mrgprd |
MAS related GPR family member D |
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ISS |
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MouseDO |
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NCBI chr 1:200,485,189...200,486,148
Ensembl chr 1:200,485,189...200,486,148
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G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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G |
Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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G |
Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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G |
Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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G |
Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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G |
Mt-cyb |
mitochondrially encoded cytochrome b |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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Mt-nd4l |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
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G |
Mt-nd5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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Mt-nd6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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Mtpn |
myotrophin |
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ISO |
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RGD |
PMID:8508536 |
RGD:1581048 |
NCBI chr 4:64,159,273...64,186,686
Ensembl chr 4:64,157,641...64,186,724
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G |
Mybpc3 |
myosin binding protein C3 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9048664 PMID:9562578 PMID:11499718 PMID:11499719 PMID:11815426 PMID:12110947 PMID:12707239 PMID:12818575 PMID:12974739 PMID:14563344 PMID:15114369 PMID:15115610 PMID:15166115 PMID:15519027 PMID:16004897 PMID:16181148 PMID:16199542 PMID:16715312 PMID:16858239 PMID:17560888 PMID:18403758 PMID:18409188 PMID:18533079 PMID:18761664 PMID:18809796 PMID:18929575 PMID:18957093 PMID:19150014 PMID:19293840 PMID:19574547 PMID:20031618 PMID:20031619 PMID:20045868 PMID:20215591 PMID:20378854 PMID:20433692 PMID:20435227 PMID:20458009 PMID:20474083 PMID:20624503 PMID:20800588 PMID:20818890 PMID:21302287 PMID:21310275 PMID:21511876 PMID:21750094 PMID:21835320 PMID:21839045 PMID:21959974 PMID:22122802 PMID:22194935 PMID:22267749 PMID:22337857 PMID:22361390 PMID:22386539 PMID:22464770 PMID:22563033 PMID:22589294 PMID:22763267 PMID:22857948 PMID:22907696 PMID:22958901 PMID:23054336 PMID:23140321 PMID:23197398 PMID:23233322 PMID:23283745 PMID:23299917 PMID:23396983 PMID:23418287 PMID:23549607 PMID:23642604 PMID:23690394 PMID:23782526 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24093860 PMID:24111713 PMID:24119082 PMID:24447051 PMID:24503780 PMID:24510615 PMID:24621997 PMID:24793961 PMID:24810389 PMID:24865491 PMID:25058872 PMID:25086479 PMID:25163546 PMID:25351510 PMID:25377941 PMID:25569433 PMID:25637381 PMID:25740977 PMID:25741868 PMID:26090888 PMID:26178432 PMID:26332198 PMID:26332594 PMID:26458567 PMID:26467025 PMID:26914223 PMID:27153395 PMID:27194543 PMID:27418595 PMID:27435932 PMID:27532257 PMID:27561770 PMID:27576561 PMID:27600940 PMID:27650965 PMID:27831900 PMID:27896284 PMID:28214152 PMID:28323875 PMID:28356264 PMID:28408708 PMID:28416588 PMID:28420666 PMID:28492532 PMID:28498465 PMID:28518168 PMID:28679633 PMID:28771489 PMID:28790153 PMID:28807990 PMID:28843747 PMID:28971120 PMID:29121657 PMID:29367541 PMID:29420653 PMID:29511324 PMID:29875424 PMID:29914921 PMID:30165862 PMID:30316040 PMID:30471092 PMID:30847666 PMID:30972196 PMID:31006259 PMID:31028938 PMID:31219556 PMID:31447099 PMID:31737537 PMID:31931689 PMID:31980526 PMID:31983221 PMID:32009526 PMID:32250699 PMID:32686758 PMID:33190526 PMID:33432171 PMID:33782553 PMID:34097875 PMID:34389451 More...
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NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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G |
Myh6 |
myosin heavy chain 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
CTD ClinVar |
PMID:15998695 PMID:20215591 PMID:20656787 PMID:21483645 PMID:22011241 PMID:22194935 PMID:22361390 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24082139 PMID:24119082 PMID:24503780 PMID:25163546 PMID:25351510 PMID:25741868 PMID:27194543 PMID:27532257 PMID:27788187 PMID:27789736 PMID:28082330 PMID:28088328 PMID:28166811 PMID:28416588 PMID:28492532 PMID:28750076 PMID:29420653 PMID:29687901 PMID:29875424 PMID:30847666 PMID:31513939 PMID:31514951 PMID:31737537 More...
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NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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G |
Myh7 |
myosin heavy chain 7 |
onset |
ISO |
DNA:missense mutations:exon:p.S532P, p.F764L (human) ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1552912 PMID:1739523 PMID:1975599 PMID:2136805 PMID:2753225 PMID:3203908 PMID:7731997 PMID:7883988 PMID:7909436 PMID:8250038 PMID:8335820 PMID:8614836 PMID:8655135 PMID:8981935 PMID:9536098 PMID:9541100 PMID:9884344 PMID:10662815 PMID:10900182 PMID:11106718 PMID:11133230 PMID:11986409 PMID:12084606 PMID:12379228 PMID:12707239 PMID:12881443 PMID:12951062 PMID:12974739 PMID:12975413 PMID:15001446 PMID:15322983 PMID:15358028 PMID:15556047 PMID:15769782 PMID:15856146 PMID:15858117 PMID:16715312 PMID:16754800 PMID:16983074 PMID:17192269 PMID:17351073 PMID:17372140 PMID:17495353 PMID:17576681 PMID:17599605 PMID:17947214 PMID:18175163 PMID:18258667 PMID:18365899 PMID:18414213 PMID:18506004 PMID:18519860 PMID:18555187 PMID:18660445 PMID:19293840 PMID:19412328 PMID:19477645 PMID:19808347 PMID:19854198 PMID:19864899 PMID:20031602 PMID:20031619 PMID:20428263 PMID:20474083 PMID:20530761 PMID:20573160 PMID:20624503 PMID:20733148 PMID:20800588 PMID:20965760 PMID:21211974 PMID:21310275 PMID:21424860 PMID:21482996 PMID:21499742 PMID:21511876 PMID:21520333 PMID:21551322 PMID:21750094 PMID:21839045 PMID:21943931 PMID:22155079 PMID:22260945 PMID:22337857 PMID:22464770 PMID:22763267 PMID:22918376 PMID:22949430 PMID:22958901 PMID:23054336 PMID:23153285 PMID:23233322 PMID:23281406 PMID:23283745 PMID:23299917 PMID:23313350 PMID:23349452 PMID:23396983 PMID:23403236 PMID:23426552 PMID:23707328 PMID:23798412 PMID:23861362 PMID:24033266 PMID:24047955 PMID:24055113 PMID:24093860 PMID:24111713 PMID:24119082 PMID:24344137 PMID:24503780 PMID:24664454 PMID:24691700 PMID:24721642 PMID:24758099 PMID:24829265 PMID:25031304 PMID:25125180 PMID:25163446 PMID:25163546 PMID:25326635 PMID:25342278 PMID:25351510 PMID:25448463 PMID:25524337 PMID:25576864 PMID:25607779 PMID:25637381 PMID:25649125 PMID:25666907 PMID:25741868 PMID:25937279 PMID:25961035 PMID:26025024 PMID:26220970 PMID:26332594 PMID:26383716 PMID:26467025 PMID:26497160 PMID:26688388 PMID:26743238 PMID:27153395 PMID:27247418 PMID:27373729 PMID:27387980 PMID:27532257 PMID:27576561 PMID:27600940 PMID:27688314 PMID:28045975 PMID:28193612 PMID:28265379 PMID:28416588 PMID:28492532 PMID:28588093 PMID:28750076 PMID:28771251 PMID:28790153 PMID:28798025 PMID:28807990 PMID:28855170 PMID:28971120 PMID:29029073 PMID:29093449 PMID:29212898 PMID:29253866 PMID:29300372 PMID:29447731 PMID:29666183 PMID:29709087 PMID:29773157 PMID:29867217 PMID:29892087 PMID:29907873 PMID:29915098 PMID:30095857 PMID:30122538 PMID:30188508 PMID:30298955 PMID:30371277 PMID:30775854 PMID:30847666 PMID:31006259 PMID:31317183 PMID:31333075 PMID:31447099 PMID:31513939 PMID:31514951 PMID:31568572 PMID:31638223 PMID:31737537 PMID:31783775 PMID:31931689 PMID:31983221 PMID:32013205 PMID:32228044 PMID:32283115 PMID:32458740 PMID:32528171 PMID:32659924 PMID:32789579 PMID:33673806 PMID:34008892 PMID:34213952 PMID:34460321 PMID:34935411 PMID:11106718 More...
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RGD:1556469 |
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 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:18533079 PMID:20173211 PMID:21310275 PMID:22958901 PMID:23299917 PMID:23343568 PMID:23396983 PMID:24033266 PMID:24055113 PMID:24111713 PMID:25524337 PMID:25637381 PMID:25741868 PMID:27483260 PMID:27600940 PMID:28166811 PMID:28492532 PMID:28750076 PMID:28771489 PMID:29253866 PMID:30403391 PMID:31019283 PMID:31323898 PMID:31771554 More...
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NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983
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Myocd |
myocardin |
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ISS |
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MouseDO |
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NCBI chr10:49,833,219...49,928,806
Ensembl chr10:49,836,641...49,927,627
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Myom1 |
myomesin 1 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24033266 PMID:28492532 |
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NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
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Mypn |
myopalladin |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:18006477 PMID:20801532 PMID:22286171 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26498160 PMID:26899768 PMID:27884173 PMID:27896284 PMID:28416588 PMID:28492532 PMID:30012837 PMID:30847666 PMID:31333075 PMID:31568572 More...
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NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
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Myzap |
myocardial zonula adherens protein |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 8:72,155,817...72,243,036
Ensembl chr 8:72,131,530...72,243,036
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Ncaph2 |
non-SMC condensin II complex, subunit H2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:20159436 PMID:25741868 PMID:28492532 |
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NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
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Ncoa6 |
nuclear receptor coactivator 6 |
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ISS |
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MouseDO |
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NCBI chr 3:143,890,896...143,961,916
Ensembl chr 3:143,890,896...143,952,268
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Nebl |
nebulette |
susceptibility |
ISO |
DNA:missense mutation:cds:p.N654K (human) ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar RGD |
PMID:9536098 PMID:11140941 PMID:16199547 PMID:17576681 PMID:20951326 PMID:23632046 PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 PMID:28166811 PMID:28492532 PMID:28750076 PMID:29247119 PMID:29544605 PMID:29915097 PMID:30165862 PMID:30206291 PMID:11140941 More...
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RGD:1581084 |
NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210
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Nedd4l |
NEDD4 like E3 ubiquitin protein ligase |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28701297 |
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NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
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Nexn |
nexilin (F actin binding protein) |
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ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:19881492 PMID:20970104 PMID:23299917 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26383259 PMID:28333919 PMID:28492532 PMID:29253866 PMID:29961767 PMID:30012837 PMID:30354306 PMID:30847666 PMID:31028938 PMID:31333075 PMID:31568572 PMID:31983221 PMID:34363016 More...
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NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342
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Nfatc4 |
nuclear factor of activated T-cells 4 |
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ISO |
DNA:missense mutation:cds:p.G160A (human) |
RGD |
PMID:12939651 |
RGD:1580248 |
NCBI chr15:29,286,998...29,314,610
Ensembl chr15:29,305,535...29,314,610
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Nkx2-5 |
NK2 homeobox 5 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
CTD ClinVar |
PMID:25741868 PMID:28492532 PMID:28973413 |
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NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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Nppa |
natriuretic peptide A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11986409 PMID:16762803 |
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NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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Nppb |
natriuretic peptide B |
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ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:16762803 PMID:18628775 PMID:18068619 |
RGD:2324684 |
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Nr2f2 |
nuclear receptor subfamily 2, group F, member 2 |
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ISS |
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MouseDO |
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NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
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Nr3c2 |
nuclear receptor subfamily 3, group C, member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21321305 |
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NCBI chr19:30,715,648...31,059,885
Ensembl chr19:30,715,648...31,059,885
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Obscn |
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
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ISO |
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RGD |
PMID:15345656 |
RGD:1580779 |
NCBI chr10:43,774,113...43,919,718
Ensembl chr10:43,789,293...43,919,723
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Pdcd1 |
programmed cell death 1 |
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ISO ISS |
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MouseDO RGD |
PMID:14595408 |
RGD:9589058 |
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Pdlim3 |
PDZ and LIM domain 3 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9536098 PMID:17254821 PMID:17576681 PMID:20801532 PMID:24033266 PMID:25741868 PMID:26656175 PMID:28166811 PMID:28492532 PMID:29511324 PMID:31983221 More...
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NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657
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Pdlim5 |
PDZ and LIM domain 5 |
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ISS |
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MouseDO |
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NCBI chr 2:230,952,251...231,120,329
Ensembl chr 2:230,952,248...231,120,275
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Pgf |
placental growth factor |
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ISO |
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RGD |
PMID:21900081 |
RGD:6483574 |
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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Phc1 |
polyhomeotic homolog 1 |
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ISS |
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MouseDO |
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NCBI chr 4:155,510,274...155,532,636
Ensembl chr 4:155,510,274...155,533,959
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Pkp2 |
plakophilin 2 |
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ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:2163603 PMID:20400443 PMID:21378009 PMID:21636032 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25650408 PMID:25676813 PMID:25741868 PMID:26220970 PMID:26743238 PMID:27066507 PMID:27930701 PMID:28074886 PMID:28166282 PMID:28492532 PMID:28750076 PMID:31333075 PMID:31568572 PMID:32906206 PMID:33919104 More...
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NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
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Plekhm2 |
pleckstrin homology and RUN domain containing M2 |
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ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 |
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NCBI chr 5:153,939,582...153,978,625
Ensembl chr 5:153,940,262...153,978,689
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Pln |
phospholamban |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:12610310 PMID:12639993 PMID:16235537 PMID:16897780 PMID:17655857 PMID:18056057 PMID:19139388 PMID:21167350 PMID:21282613 PMID:21332051 PMID:22137083 PMID:22427649 PMID:22707725 PMID:23308118 PMID:23861362 PMID:24033266 PMID:25351510 PMID:25593317 PMID:25611685 PMID:25691538 PMID:25741868 PMID:25852082 PMID:25928149 PMID:26535225 PMID:26917049 PMID:27532257 PMID:28492532 PMID:28600387 PMID:30012515 PMID:30012837 PMID:30847666 More...
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NCBI chr20:32,629,537...32,639,559
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Ppargc1a |
PPARG coactivator 1 alpha |
treatment |
IDA |
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RGD |
PMID:19242323 |
RGD:2311057 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Ppp1ca |
protein phosphatase 1 catalytic subunit alpha |
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ISO |
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RGD |
PMID:12024026 |
RGD:737728 |
NCBI chr 1:201,485,117...201,488,734
Ensembl chr 1:201,485,085...201,497,327
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Ppp1r13l |
protein phosphatase 1, regulatory subunit 13 like |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28069640 |
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NCBI chr 1:79,010,997...79,030,714
Ensembl chr 1:79,011,745...79,030,712
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Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
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ISS |
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MouseDO |
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NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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Ppp3r1 |
protein phosphatase 3, regulatory subunit B, alpha |
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ISO ISS |
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MouseDO RGD |
PMID:15012912 |
RGD:1580709 |
NCBI chr14:91,556,743...91,606,230
Ensembl chr14:91,604,121...91,606,907
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Prdm16 |
PR/SET domain 16 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23768516 PMID:25741868 PMID:28492532 |
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NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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G |
Prkag2 |
protein kinase AMP-activated non-catalytic subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:10,010,574...10,252,152
Ensembl chr 4:10,010,890...10,252,142
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Prkca |
protein kinase C, alpha |
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ISO |
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RGD |
PMID:9918525 |
RGD:1581274 |
NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
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Prkcb |
protein kinase C, beta |
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ISO |
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RGD |
PMID:9918525 |
RGD:1581274 |
NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
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Prox1 |
prospero homeobox 1 |
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ISS |
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MouseDO |
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NCBI chr13:101,669,184...101,719,804
Ensembl chr13:101,669,184...101,711,183
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Psen1 |
presenilin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
CTD ClinVar |
PMID:11389157 PMID:17186461 PMID:25741868 PMID:28492532 |
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NCBI chr 6:103,323,014...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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Psen2 |
presenilin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
CTD ClinVar |
PMID:17186461 PMID:20458010 PMID:21483645 PMID:22412221 PMID:24754482 PMID:28492532 More...
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NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174
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Ptger4 |
prostaglandin E receptor 4 |
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ISS |
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MouseDO |
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NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO ISS |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar MouseDO RGD |
PMID:18759865 PMID:21934682 PMID:22923420 PMID:24033266 PMID:24803665 PMID:25500235 PMID:25612910 PMID:25741868 PMID:27153395 PMID:28051113 PMID:28492532 PMID:18316486 More...
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RGD:12743610 |
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Rab1a |
RAB1A, member RAS oncogene family |
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ISS |
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MouseDO |
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NCBI chr14:94,422,219...94,448,799
Ensembl chr14:94,415,275...94,448,248
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Rac1 |
Rac family small GTPase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16155095 |
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NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
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Raf1 |
Raf-1 proto-oncogene, serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
CTD ClinVar |
PMID:24777450 PMID:25741868 PMID:28492532 PMID:29493581 |
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NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
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Ranbp1 |
RAN binding protein 1 |
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ISO |
protein:decreased expression:heart ventricle, cytoplasm (human) |
RGD |
PMID:25341891 |
RGD:9835001 |
NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
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Rbm20 |
RNA binding motif protein 20 |
severity |
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy DNA:missense mutations:exon 9:multiple (human) |
ClinVar RGD |
PMID:18585512 PMID:19712804 PMID:20590677 PMID:21483645 PMID:22004663 PMID:22466703 PMID:22561820 PMID:23861363 PMID:23886709 PMID:24033266 PMID:24503780 PMID:24584570 PMID:25163546 PMID:25351510 PMID:25448463 PMID:25637381 PMID:25741868 PMID:26084686 PMID:26458567 PMID:26604136 PMID:27496873 PMID:27531932 PMID:27532257 PMID:27650965 PMID:27896284 PMID:28492532 PMID:28798025 PMID:29029073 PMID:29253866 PMID:29367541 PMID:29540472 PMID:29650543 PMID:29895960 PMID:30012837 PMID:30165862 PMID:30487145 PMID:30547036 PMID:30847666 PMID:30871348 PMID:30871351 PMID:30972196 PMID:31317183 PMID:31333075 PMID:31514951 PMID:31568572 PMID:31737537 PMID:31918855 PMID:32187365 PMID:32789749 PMID:32840935 PMID:32880476 PMID:32969603 PMID:33134301 PMID:34540771 PMID:19712804 More...
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RGD:11067476 |
NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060
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Rbm24 |
RNA binding motif protein 24 |
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ISS |
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MouseDO |
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NCBI chr17:18,275,681...18,288,231
Ensembl chr17:18,275,688...18,288,102
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Rbpj |
recombination signal binding protein for immunoglobulin kappa J region |
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ISO |
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RGD |
PMID:10600520 |
RGD:1581297 |
NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
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Renbp |
renin binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12612874 |
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NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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RGD1310553 |
similar to expressed sequence AI597479 |
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ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25358972 PMID:25741868 PMID:28166811 PMID:28492532 PMID:31333075 PMID:31568572 More...
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NCBI chr 9:45,371,396...45,382,123
Ensembl chr 9:45,371,430...45,382,120
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Rps6kb1 |
ribosomal protein S6 kinase B1 |
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IEP |
protein:increased activity:heart |
RGD |
PMID:16043946 |
RGD:1643022 |
NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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RT1-Bb |
RT1 class II, locus Bb |
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ISO |
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RGD |
PMID:9220309 |
RGD:13702906 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Rxra |
retinoid X receptor alpha |
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ISS |
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MouseDO |
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NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
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Ryr2 |
ryanodine receptor 2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:19926015 PMID:23861362 PMID:24033266 PMID:25163546 PMID:25650408 PMID:25741868 PMID:25925909 PMID:27930701 PMID:28341588 PMID:28404607 PMID:28492532 PMID:29453246 PMID:30847666 PMID:31333075 PMID:31568572 PMID:32152366 More...
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NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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S100b |
S100 calcium binding protein B |
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ISO |
protein:increased expression:serum |
RGD |
PMID:18068619 |
RGD:2324684 |
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Scn2b |
sodium voltage-gated channel beta subunit 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
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NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
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Scn4b |
sodium voltage-gated channel beta subunit 4 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
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Scn5a |
sodium voltage-gated channel alpha subunit 5 |
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ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9521325 PMID:10966831 PMID:11804990 PMID:15671429 PMID:16267253 PMID:16379539 PMID:16453024 PMID:16611632 PMID:17442746 PMID:18048769 PMID:19056759 PMID:19412328 PMID:19561025 PMID:19716085 PMID:19799913 PMID:19841300 PMID:19862833 PMID:20110800 PMID:20129283 PMID:20458009 PMID:20981092 PMID:21167004 PMID:21483645 PMID:21596231 PMID:21622575 PMID:22277643 PMID:22338672 PMID:22581653 PMID:22685113 PMID:22710484 PMID:22766342 PMID:22899775 PMID:22995991 PMID:22999724 PMID:23299917 PMID:23571586 PMID:23631430 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24136861 PMID:24349418 PMID:24736382 PMID:24815523 PMID:25102755 PMID:25179549 PMID:25210054 PMID:25348405 PMID:25351510 PMID:25624448 PMID:25637381 PMID:25741286 PMID:25741868 PMID:25904541 PMID:26066609 PMID:26159999 PMID:26189708 PMID:26332594 PMID:26467025 PMID:26633542 PMID:26733869 PMID:26746457 PMID:27435932 PMID:27532257 PMID:27834932 PMID:27896284 PMID:27930701 PMID:28074886 PMID:28166811 PMID:28412158 PMID:28416588 PMID:28492532 PMID:28549997 PMID:28573431 PMID:28701297 PMID:28837624 PMID:28988457 PMID:29998127 PMID:30086531 PMID:30193851 PMID:30972196 PMID:31333075 PMID:31514951 PMID:31568572 PMID:31737537 PMID:31901299 PMID:32533946 PMID:33084224 PMID:33221895 More...
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NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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Sgcb |
sarcoglycan, beta |
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ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:34,563,614...34,578,614
Ensembl chr14:34,563,608...34,578,583
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Sgcd |
sarcoglycan, delta |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23861362 PMID:24033266 PMID:25637381 PMID:25741868 PMID:26720722 PMID:28492532 More...
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NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840
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Sgcg |
sarcoglycan, gamma |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
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Shbg |
sex hormone binding globulin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25996886 |
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NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057
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Sik1 |
salt-inducible kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16243910 |
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NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991
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Slc22a5 |
solute carrier family 22 member 5 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic |
CTD ClinVar |
PMID:21641380 PMID:25741868 PMID:28492532 |
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NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
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Slc25a4 |
solute carrier family 25 member 4 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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Slc8a1 |
solute carrier family 8 member A1 |
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ISO |
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RGD |
PMID:23436819 |
RGD:10053661 |
NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628
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Snai1 |
snail family transcriptional repressor 1 |
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ISS |
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MouseDO |
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NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969
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Snta1 |
syntrophin, alpha 1 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 |
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NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709
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Snx25 |
sorting nexin 25 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:46,134,552...46,238,471
Ensembl chr16:46,125,804...46,238,440
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Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16155095 PMID:21195081 PMID:11677043 PMID:10425186 |
RGD:1581260, RGD:1580837 |
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sos1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 PMID:26350204 PMID:28492532 PMID:32603605 More...
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NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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Sp4 |
Sp4 transcription factor |
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ISO |
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RGD |
PMID:15972724 |
RGD:1581308 |
NCBI chr 6:139,187,458...139,252,741
Ensembl chr 6:139,192,147...139,252,126
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Srf |
serum response factor |
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ISO ISS |
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MouseDO RGD |
PMID:16260633 |
RGD:1580754 |
NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
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Stk38 |
serine/threonine kinase 38 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
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NCBI chr20:7,034,245...7,067,803
Ensembl chr20:7,034,242...7,068,198
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Syne2 |
spectrin repeat containing nuclear envelope protein 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
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NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064
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Tab2 |
TGF-beta activated kinase 1/MAP3K7 binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar RGD |
PMID:25741868 PMID:28386937 PMID:28492532 PMID:31250519 PMID:34990405 |
RGD:155663355 |
NCBI chr 1:2,375,026...2,424,759
Ensembl chr 1:2,375,490...2,424,756
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Taf10 |
TATA-box binding protein associated factor 10 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
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NCBI chr 1:160,095,108...160,096,401
Ensembl chr 1:160,095,108...160,096,376
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Taf1a |
TATA-box binding protein associated factor, RNA polymerase I subunit A |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr13:95,012,160...95,048,131
Ensembl chr13:95,029,225...95,048,087
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Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar RGD |
PMID:4685904 PMID:9382096 PMID:11896212 PMID:12468278 PMID:19438153 PMID:19700766 PMID:20530761 PMID:24033266 PMID:24342716 PMID:25741868 PMID:25941633 PMID:26350513 PMID:28492532 PMID:11896212 More...
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RGD:1578363 |
NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
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Tango2 |
transport and golgi organization 2 homolog |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
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Tbx1 |
T-box transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Tbx20 |
T-box transcription factor 20 |
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ISS ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
MouseDO ClinVar |
PMID:25741868 PMID:28492532 PMID:29089047 PMID:31333075 PMID:31568572 |
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NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175
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Tbx5 |
T-box transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:17534187 PMID:25741868 PMID:28492532 |
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NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885
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Tcap |
titin-cap |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:10655062 PMID:23479141 PMID:24037902 PMID:25298746 PMID:25741868 PMID:27618135 PMID:28492532 More...
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NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887
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Tcf7l2 |
transcription factor 7 like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29394407 |
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NCBI chr 1:254,785,956...254,978,967
Ensembl chr 1:254,786,091...254,978,967
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Tfap2a |
transcription factor AP-2 alpha |
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ISO |
protein:increased expression:myocardium |
RGD |
PMID:14752511 |
RGD:1578494 |
NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
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Tgfb3 |
transforming growth factor, beta 3 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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Timp3 |
TIMP metallopeptidase inhibitor 3 |
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ISS |
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MouseDO |
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NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839
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Tmem43 |
transmembrane protein 43 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:18313022 PMID:19467449 PMID:20010364 PMID:21214875 PMID:22458570 PMID:22725725 PMID:23671136 PMID:23810883 PMID:23812740 PMID:24125834 PMID:24598986 PMID:25343256 PMID:25741868 PMID:26513349 PMID:28491673 PMID:28492532 PMID:29040414 PMID:29980933 PMID:30700137 More...
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NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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Tmod1 |
tropomodulin 1 |
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ISS |
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MouseDO |
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NCBI chr 5:60,316,445...60,393,957
Ensembl chr 5:60,338,512...60,393,956
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Tmpo |
thymopoietin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
CTD ClinVar |
PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 PMID:25741868 PMID:28074886 PMID:28492532 PMID:30327538 More...
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NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
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Tnf |
tumor necrosis factor |
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ISO ISS |
protein:increased expression:plasma: |
MouseDO RGD |
PMID:14984724 |
RGD:7401238 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf4 |
TNF receptor superfamily member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12031769 |
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NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
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G |
Tnfrsf8 |
TNF receptor superfamily member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12031769 |
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NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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G |
Tnfrsf9 |
TNF receptor superfamily member 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12031769 |
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NCBI chr 5:161,381,662...161,408,003
Ensembl chr 5:161,381,662...161,408,000
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G |
Tnfsf4 |
TNF superfamily member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12031769 |
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NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
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G |
Tnfsf8 |
TNF superfamily member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12031769 |
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NCBI chr 5:77,253,881...77,277,078
Ensembl chr 5:77,251,373...77,277,421
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G |
Tnfsf9 |
TNF superfamily member 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12031769 |
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NCBI chr 9:1,944,017...1,946,351
Ensembl chr 9:1,944,017...1,946,345
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Tnnc1 |
troponin C1, slow skeletal and cardiac type |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:20215591 PMID:21832052 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:27532257 PMID:28492532 PMID:28807990 PMID:31333075 PMID:31568572 More...
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NCBI chr16:6,400,801...6,405,419
Ensembl chr16:6,402,171...6,405,634
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Tnni3 |
troponin I3, cardiac type |
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ISO |
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:3144325 PMID:9241277 PMID:10806205 PMID:11735257 PMID:11815426 PMID:12707239 PMID:12860912 PMID:12923217 PMID:15070570 PMID:15524171 PMID:15607392 PMID:15698845 PMID:15992656 PMID:16020591 PMID:16199542 PMID:16352453 PMID:18006163 PMID:18175163 PMID:18403758 PMID:18414213 PMID:18467357 PMID:18533079 PMID:19645627 PMID:20035081 PMID:20057144 PMID:20086309 PMID:20350521 PMID:20474083 PMID:20641121 PMID:21310275 PMID:21511876 PMID:21533915 PMID:21777381 PMID:21799269 PMID:21839045 PMID:21896538 PMID:21967901 PMID:22429680 PMID:22455086 PMID:22464770 PMID:22579248 PMID:22876777 PMID:23270746 PMID:23283745 PMID:23299917 PMID:23610579 PMID:23967088 PMID:24033266 PMID:24111713 PMID:24113344 PMID:24503780 PMID:24510615 PMID:25132132 PMID:25228707 PMID:25324519 PMID:25326637 PMID:25342278 PMID:25351510 PMID:25524337 PMID:25637381 PMID:25741868 PMID:25940119 PMID:26440512 PMID:26688388 PMID:26914223 PMID:27532257 PMID:27600940 PMID:28138913 PMID:28166811 PMID:28193612 PMID:28356264 PMID:28408708 PMID:28492532 PMID:28771489 PMID:28790153 PMID:29121657 PMID:29141175 PMID:29203298 PMID:29255176 PMID:29551499 PMID:29907873 PMID:30105547 PMID:30297972 PMID:31006259 PMID:31333075 PMID:31513939 PMID:31534214 PMID:31568572 PMID:31737537 PMID:31877599 PMID:32492895 PMID:32686758 PMID:32830170 PMID:33407484 PMID:33487615 PMID:33495597 PMID:33673806 PMID:34137518 PMID:34213952 PMID:35050212 PMID:35535697 PMID:15070570 More...
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RGD:1580422 |
NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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G |
Tnni3k |
TNNI3 interacting kinase |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
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NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268
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G |
Tnnt1 |
troponin T1, slow skeletal type |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721
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G |
Tnnt2 |
troponin T2, cardiac type |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:7898523 PMID:11684629 PMID:12818575 PMID:12881443 PMID:12923187 PMID:14636924 PMID:14654368 PMID:15464434 PMID:15542288 PMID:15623536 PMID:15769782 PMID:15923195 PMID:15958377 PMID:16093482 PMID:17101185 PMID:17278368 PMID:17556660 PMID:17932326 PMID:18056765 PMID:18154728 PMID:18349139 PMID:18467357 PMID:18506004 PMID:18606313 PMID:19253838 PMID:19324435 PMID:19412328 PMID:19477965 PMID:20031601 PMID:20031618 PMID:20083571 PMID:20215591 PMID:20298698 PMID:20973921 PMID:21310275 PMID:21415410 PMID:21424860 PMID:21483645 PMID:21551322 PMID:21846512 PMID:22292720 PMID:22464770 PMID:22517884 PMID:22675533 PMID:22958901 PMID:23074333 PMID:23349452 PMID:23539503 PMID:23861362 PMID:24033266 PMID:24093860 PMID:24119082 PMID:24205113 PMID:24367593 PMID:24503780 PMID:24992688 PMID:25611685 PMID:25681424 PMID:25741868 PMID:26084686 PMID:26095046 PMID:26507537 PMID:26656454 PMID:26779504 PMID:27153395 PMID:27411801 PMID:27532257 PMID:27576561 PMID:27757084 PMID:28246128 PMID:28255936 PMID:28352236 PMID:28416588 PMID:28492532 PMID:28588840 PMID:28669108 PMID:28973951 PMID:29121657 PMID:29367539 PMID:29367541 PMID:29773157 PMID:30297972 PMID:30565988 PMID:30763825 PMID:30847666 PMID:30871747 PMID:31333075 PMID:31373515 PMID:31568572 PMID:31937807 PMID:31983221 PMID:32659924 PMID:32690703 PMID:32880476 PMID:33025817 PMID:33297573 PMID:34213952 PMID:34540771 PMID:34853230 PMID:11684629 More...
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RGD:1580442 |
NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
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G |
Tp53 |
tumor protein p53 |
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IEP |
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RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Tpm1 |
tropomyosin 1 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:11106625 PMID:18533079 PMID:20117437 PMID:20159828 PMID:20215591 PMID:20530761 PMID:21310275 PMID:21483645 PMID:23539503 PMID:23674513 PMID:24033266 PMID:24503780 PMID:25031304 PMID:25241052 PMID:25242052 PMID:25326635 PMID:25525159 PMID:25548289 PMID:25741868 PMID:26899768 PMID:27177193 PMID:27532257 PMID:28359939 PMID:28492532 PMID:28600229 PMID:28603979 PMID:29024827 PMID:29496559 PMID:29517769 PMID:31270709 PMID:31333075 PMID:31568572 More...
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NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
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G |
Trdn |
triadin |
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ISO |
protein:decreased expression:heart |
RGD |
PMID:17400717 |
RGD:7327229 |
NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595
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G |
Tsfm |
Ts translation elongation factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25037205 PMID:25741868 PMID:28492532 PMID:29261183 PMID:33816677 |
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NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
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G |
Ttn |
titin |
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ISO |
mRNA, protein:altered expression:heart ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy CTD Direct Evidence: marker/mechanism DNA:variants:cds: |
ClinVar CTD RGD |
PMID:9536098 PMID:10051295 PMID:11788824 PMID:11846417 PMID:12145747 PMID:15802564 PMID:16733766 PMID:17344846 PMID:17444505 PMID:17576681 PMID:18414213 PMID:18948003 PMID:21520333 PMID:21810661 PMID:22335739 PMID:22526018 PMID:23299917 PMID:23396983 PMID:23418287 PMID:23478172 PMID:23486992 PMID:23675308 PMID:23757202 PMID:23861362 PMID:23975875 PMID:24033266 PMID:24055113 PMID:24105469 PMID:24119082 PMID:24231549 PMID:24271327 PMID:24319099 PMID:24395473 PMID:24459294 PMID:24503780 PMID:24569025 PMID:24578547 PMID:24667040 PMID:24980681 PMID:25163546 PMID:25179549 PMID:25214167 PMID:25326635 PMID:25448463 PMID:25589632 PMID:25741868 PMID:25987458 PMID:26272908 PMID:26315439 PMID:26406308 PMID:26467025 PMID:26516846 PMID:26627873 PMID:26701604 PMID:26735901 PMID:26773040 PMID:26777568 PMID:26899768 PMID:27066507 PMID:27194543 PMID:27437900 PMID:27437901 PMID:27493940 PMID:27532257 PMID:27588451 PMID:27662471 PMID:27796757 PMID:27813223 PMID:27869827 PMID:27886618 PMID:27930701 PMID:28045975 PMID:28087566 PMID:28138913 PMID:28255936 PMID:28256728 PMID:28333919 PMID:28416588 PMID:28492532 PMID:28611029 PMID:28716623 PMID:28771489 PMID:28798025 PMID:28822653 PMID:28851873 PMID:28877744 PMID:28941705 PMID:29029073 PMID:29093449 PMID:29361395 PMID:29435569 PMID:29447731 PMID:29540472 PMID:29691892 PMID:29773157 PMID:29892087 PMID:29961767 PMID:30012837 PMID:30333491 PMID:30371277 PMID:30535219 PMID:30536954 PMID:30571272 PMID:30609409 PMID:30615648 PMID:30681174 PMID:31112426 PMID:31317183 PMID:31333075 PMID:31402444 PMID:31514951 PMID:31539150 PMID:31568572 PMID:31660661 PMID:31691645 PMID:31727422 PMID:31737537 PMID:31931689 PMID:31983221 PMID:32039858 PMID:32160020 PMID:32233023 PMID:32235935 PMID:32277046 PMID:32528171 PMID:32603605 PMID:32659924 PMID:32778822 PMID:32815318 PMID:32964742 PMID:32998006 PMID:33106378 PMID:33432171 PMID:33874732 PMID:34495297 PMID:34540771 PMID:34667957 PMID:34782754 PMID:15345656 PMID:27869827 More...
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RGD:1580779, RGD:11565821 |
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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G |
Tubb5 |
tubulin, beta 5 class I |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16155095 |
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NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940
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G |
Txn1 |
thioredoxin 1 |
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ISO |
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RGD |
PMID:12870673 |
RGD:1580782 |
NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
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G |
Txnrd2 |
thioredoxin reductase 2 |
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ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21247928 PMID:24601690 PMID:25741868 PMID:26300845 PMID:28074886 PMID:28166811 PMID:28416588 PMID:28492532 PMID:31712860 PMID:31983221 PMID:32257832 More...
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NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
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G |
Tymp |
thymidine phosphorylase |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:20159436 PMID:25741868 PMID:28492532 |
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NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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G |
Ube2i |
ubiquitin-conjugating enzyme E2I |
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ISO |
mRNA:i | |