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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:cardiomyopathy
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Accession:DOID:0050700 term browser browse the term
Definition:A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).
Synonyms:exact_synonym: Cardiomyopathies;   Cardiomyopathy With Or Without Skeletal Myopathy;   Myocardial Disease;   Myocardial Diseases;   Myocardiopathies;   Myocardiopathy;   Primary Cardiomyopathies;   Primary Cardiomyopathy;   Primary Myocardial Disease;   Primary Myocardial Diseases;   Secondary Cardiomyopathies;   Secondary Cardiomyopathy;   Secondary Myocardial Disease;   Secondary Myocardial Diseases
 narrow_synonym: Familial Cardiomyopathy;   HYPOKINETIC NON-DILATED CARDIOMYOPATHY;   PRKAG2 Cardiac Syndrome
 related_synonym: PERSONAL AND/OR FAMILY HISTORY OF CARDIOMYOPATHY
 primary_id: MESH:D009202;   RDO:0000791
 xref: ICD10CM:I42;   ICD9CM:425;   ICD9CM:425.9;   NCI:C34830;   NCI:C53654
For additional species annotation, visit the Alliance of Genome Resources.


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cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12166651, PMID:16563363, PMID:17245405, PMID:20474083, PMID:23103869, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26656175, PMID:28087566, PMID:28166811, PMID:28492532, PMID:29030401 NCBI chrNW_004955413:17,385,966...17,510,220 JBrowse link
G Ace2 angiotensin I converting enzyme 2 ISO CTD Direct Evidence: therapeutic CTD PMID:28445944 NCBI chrNW_004955519:2,591,229...2,643,705 JBrowse link
G Actc1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9563954, PMID:10494087, PMID:10966831, PMID:11052860, 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:22555271, PMID:22590617, PMID:23054336, PMID:23283745, PMID:24033266, PMID:24736382, PMID:25163546, PMID:25741868, PMID:27532257, PMID:28138913, PMID:28408708, PMID:28416588, PMID:28492532, PMID:28798025 NCBI chrNW_004955416:2,139,541...2,144,678 JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:14567970, PMID:17097056, PMID:20022194, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24082139, PMID:24503780, PMID:25611685, PMID:25626705, PMID:25741868, PMID:26084686, PMID:26899768, PMID:27532257, PMID:27896284, PMID:28301460, PMID:28492532, PMID:28878402, PMID:28986455, PMID:29247119, PMID:30311386, PMID:30775854 NCBI chrNW_004955492:3,483,704...3,554,831 JBrowse link
G Adam10 ADAM metallopeptidase domain 10 ISO RGD PMID:24244825 RGD:13702879 NCBI chrNW_004955450:15,853,372...15,927,966 JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20378996 NCBI chrNW_004955402:9,091,927...9,099,803 JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing disease_progression
treatment
ISO associated with inflammation; mRNA, protein:increased expression:heart, plasma
protein:decreased expression:serum
RGD PMID:21278397, PMID:23723143 RGD:5686895, RGD:8695930 NCBI chrNW_004955420:20,911,181...20,922,992 JBrowse link
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: therapeutic CTD PMID:20363887 NCBI chrNW_004955455:7,886,720...7,906,214 JBrowse link
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25193472 NCBI chrNW_004955415:5,515,157...5,517,198 JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:12145768 NCBI chrNW_004955492:7,863,662...7,874,863 JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362, PMID:25016126, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004955432:8,933,037...9,090,872 JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24448315 NCBI chrNW_004955538:3,208,711...3,224,386 JBrowse link
G Alpk3 alpha kinase 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28630369 NCBI chrNW_004955416:14,279,831...14,322,836 JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:15075330, PMID:15178757, PMID:16253912, PMID:17161064, PMID:17242276, PMID:18782775, PMID:22581653, PMID:22995991, PMID:23631430, PMID:23861362, PMID:24025405, PMID:24448499, PMID:25351510, PMID:25649125, PMID:25741868, PMID:26159999, PMID:26168218, PMID:27435932, PMID:28074886, PMID:28341588, PMID:28492532, PMID:28750076, PMID:30311386, PMID:30615648 NCBI chrNW_004955457:13,624,590...13,938,427 JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:19525294, PMID:19608031, PMID:22337857, PMID:22388920, PMID:22892539, PMID:23299917, PMID:23572067, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532 NCBI chrNW_004955425:2,258,554...2,267,699 JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chrNW_004955412:18,170,331...18,172,298 JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:29068127 NCBI chrNW_004955407:25,725,259...25,973,582 JBrowse link
G Aqp2 aquaporin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12145768 NCBI chrNW_004955547:547,770...555,764 JBrowse link
G Atf3 activating transcription factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:25136830 NCBI chrNW_004955406:4,875,672...4,889,173 JBrowse link
G Atp5f1b ATP synthase F1 subunit beta treatment ISO mRNA:increased expression:heart (rat) RGD PMID:17229387 RGD:13792652 NCBI chrNW_004955458:4,188,167...4,195,575 JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12145768 NCBI chrNW_004955580:583,827...586,739 JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:26467025, PMID:27042682, PMID:28492532 NCBI chrNW_004955551:446,322...468,329 JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10614985 NCBI chrNW_004955438:16,514,300...16,537,160 JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004955515:5,060,176...5,105,298 JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:24728327, PMID:25741868, PMID:26260725, PMID:26530882, PMID:26580448, PMID:26848617 NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362, PMID:25184293, PMID:25741868, PMID:26230511, PMID:26386135, PMID:27502440, PMID:28492532, PMID:29046645, PMID:30345660 NCBI chrNW_004955454:4,573,647...5,199,046 JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:20817017, PMID:23414114, PMID:23861362, PMID:23874304, PMID:24033266, PMID:24055113, PMID:24752249, PMID:25467552, PMID:25637381, PMID:25741868, PMID:27711072, PMID:28492532, PMID:30311386 NCBI chrNW_004955429:9,642,725...9,966,175 JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chrNW_004955524:1,245,607...1,256,528 JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12034872, PMID:17881003, PMID:18543230, PMID:19709828, PMID:20530761, PMID:21063088, PMID:21454795, PMID:22421959, PMID:23861362, PMID:24025405, PMID:24033266, PMID:24503780, PMID:25163546, PMID:25651173, PMID:25691538, PMID:25741868, PMID:26671417, PMID:28074886, PMID:28404607, PMID:28492532, PMID:29032884 NCBI chrNW_004955435:18,941,975...18,996,027 JBrowse link
G Casr calcium sensing receptor ISO associated with Uremia RGD PMID:19188910 RGD:7205661 NCBI chrNW_004955427:21,486,608...21,574,017 JBrowse link
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:11800590 NCBI chrNW_004955422:11,783,973...11,826,970 JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:09536092, PMID:11251997, PMID:11884389, PMID:14672715, PMID:15099591, PMID:15580566, PMID:16770780, PMID:17060380, PMID:17210839, PMID:17275750, PMID:17897828, PMID:18253147, PMID:19380584, PMID:19773168, PMID:20472890, PMID:22245016, PMID:22378279, PMID:22581547, PMID:22584458, PMID:22595201, PMID:23465283, PMID:23631430, PMID:23640888, PMID:23861362, PMID:24021552, PMID:24033266, PMID:24070816, PMID:24123366, PMID:24503780, PMID:24917393, PMID:25351510, PMID:25741868, PMID:25757662, PMID:26159999, PMID:26467025, PMID:26498160, PMID:27066573, PMID:27312022, PMID:27483260, PMID:27600940, PMID:27772553, PMID:27854218, PMID:27930701, PMID:28407228, PMID:28492532, PMID:28898996, PMID:29396561, PMID:29501670, PMID:29961767, PMID:30055862, PMID:30704477, PMID:31043699 NCBI chrNW_004955561:326,008...335,911 JBrowse link
G Cbr1 carbonyl reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11016643 NCBI chrNW_004955407:35,351,601...35,354,510 JBrowse link
G Cd36 CD36 molecule treatment ISO RGD PMID:17363697 RGD:11040927 NCBI chrNW_004955410:5,003,720...5,120,903 JBrowse link
G Cep85l centrosomal protein 85 like ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12610310, PMID:12639993, PMID:16235537, 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:25593317, PMID:25611685, PMID:25741868, PMID:25928149, PMID:26535225, PMID:26917049, PMID:27532257, PMID:28492532, PMID:28600387 NCBI chrNW_004955436:1,352,481...1,482,061 JBrowse link
G Chrm2 cholinergic receptor muscarinic 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18451336 NCBI chrNW_004955494:5,845,581...5,975,614 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004955451:11,468,156...11,484,410 JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chrNW_004955404:2,092,184...2,178,079 JBrowse link
G Cryab crystallin alpha B ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:1560021, PMID:11013455, PMID:16483541, PMID:16793013, PMID:17116488, PMID:20171888, PMID:21920752, PMID:22106715, PMID:22995991, PMID:23194663, PMID:23299917, PMID:24033266, PMID:25208129, PMID:25741868, PMID:26265630, PMID:26694549, PMID:26961874, PMID:28492532 NCBI chrNW_004955412:13,626,018...13,629,495 JBrowse link
G Cs citrate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14568902 NCBI chrNW_004955458:3,881,798...3,913,044 JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9039266, PMID:12507422, PMID:14567970, PMID:15781201, PMID:16352453, PMID:17084280, PMID:18505755, PMID:19035361, PMID:20044516, PMID:20474083, PMID:23299917, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24082139, PMID:24503780, PMID:25351510, PMID:25741868, PMID:26656175, PMID:27532257, PMID:28492532, PMID:28790153, PMID:30012424 NCBI chrNW_004955476:155,913...176,122 JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955493:7,735,996...7,737,559 JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:14724127, PMID:15477095, PMID:16217025, PMID:16519886, PMID:16828798, PMID:16865695, PMID:17221859, PMID:17325244, PMID:17626518, PMID:18414213, PMID:18653338, PMID:19181099, PMID:20474083, PMID:21262226, PMID:21842594, PMID:22153487, PMID:22215463, PMID:22337857, PMID:23143191, PMID:23168288, PMID:23299917, PMID:23806086, PMID:23861362, PMID:24033266, PMID:24088041, PMID:24503780, PMID:25214167, PMID:25736269, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chrNW_004955453:14,039,502...14,046,572 JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO RGD PMID:21220706 RGD:10400890 NCBI chrNW_004955454:2,933,904...2,944,675 JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28250423, PMID:28492532, PMID:28972118, PMID:29300326, PMID:30311386 NCBI chrNW_004955422:15,119,155...15,136,771 JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Cardiomyopathy
CTD
ClinVar
PMID:12359139, PMID:17440445, PMID:18340010, PMID:20675662, PMID:23299917, PMID:24033266, PMID:24055113, PMID:25637381, PMID:25741868, PMID:26467025, PMID:26743743, PMID:28492532, PMID:28701297, PMID:29847600 NCBI chrNW_004955535:1,283,084...3,297,015 JBrowse link
G Dnaaf3 dynein axonemal assembly factor 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:22876777, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955567:1,030,467...1,036,562 JBrowse link
G Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955580:907,056...913,604 JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar PMID:7971964, PMID:17033975, PMID:17186466, PMID:17363426, 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:22722193, PMID:23147450, PMID:23292937, PMID:23299917, PMID:23396983, PMID:23757202, PMID:23812740, PMID:23826350, PMID:23861362, PMID:23863954, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24503780, PMID:24704780, PMID:24967631, PMID:25163546, PMID:25351510, PMID:25390934, PMID:25447171, PMID:25516398, PMID:25569433, PMID:25637381, PMID:25741868, PMID:25819062, PMID:26498160, PMID:26656175, PMID:26743238, PMID:26780541, PMID:27000522, PMID:27153395, PMID:27532257, PMID:27884173, PMID:27930701, PMID:28255936, PMID:28471438, PMID:28492532, PMID:28798025, PMID:29032884, PMID:29367541, PMID:29802319, PMID:30311386 NCBI chrNW_004955402:18,465,631...18,496,948 JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy
ClinVar PMID:16025435, PMID:16505173, PMID:16773573, PMID:16774985, PMID:17105751, PMID:17372169, PMID:18382419, PMID:18632414, PMID:18639457, PMID:18678517, PMID:18813333, PMID:19039334, PMID:19569224, PMID:19863551, PMID:20031616, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20197793, PMID:20400443, PMID:20603720, PMID:20708101, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:21220045, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21859740, PMID:22000064, PMID:22214898, PMID:22458570, PMID:23071725, PMID:23178689, PMID:23299917, PMID:23381804, PMID:23396983, PMID:23514727, PMID:23671136, PMID:23810883, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23871674, PMID:23871885, PMID:23889974, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24082139, PMID:24125834, PMID:24238504, PMID:24436435, PMID:24503780, PMID:24704780, PMID:25059832, PMID:25087486, PMID:25172079, PMID:25174650, PMID:25213555, PMID:25332820, PMID:25351510, PMID:25445213, PMID:25637381, PMID:25741868, PMID:25765472, PMID:25820315, PMID:25877686, PMID:26112015, PMID:26138720, PMID:26230511, PMID:26633542, PMID:26656175, PMID:26899768, PMID:27005929, PMID:27055156, PMID:27114410, PMID:27194543, PMID:27532257, PMID:27930701, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28454995, PMID:28471438, PMID:28492532, PMID:28567303, PMID:28578331, PMID:28600387, PMID:28818065, PMID:29062102, PMID:29178656, PMID:29773157, PMID:30311386, PMID:30454721, PMID:30533233, PMID:30615648, PMID:30790397, PMID:30885746, PMID:30985088, PMID:30993396, PMID:31333075, PMID:31568572 NCBI chrNW_004955402:18,826,400...18,876,188 JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar PMID:10395892, PMID:11063735, PMID:11841538, PMID:15210133, PMID:15941723, PMID:16628197, PMID:16774985, PMID:16917092, PMID:18382419, PMID:18632414, PMID:19095136, PMID:19279339, PMID:19863551, PMID:19924139, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20400443, PMID:20435227, PMID:20525856, PMID:20716751, PMID:20829228, PMID:20864495, PMID:21062920, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21756917, PMID:21859740, PMID:22214898, PMID:22216297, PMID:22555271, PMID:22949226, PMID:23137101, PMID:23292937, PMID:23299917, PMID:23381804, PMID:23396983, PMID:23465283, PMID:23514727, PMID:23524727, PMID:23671136, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24440382, PMID:24448499, PMID:24503780, PMID:24704780, PMID:24825141, PMID:24967631, PMID:24981977, PMID:25163546, PMID:25196244, PMID:25225338, PMID:25227139, PMID:25344691, PMID:25351510, PMID:25447171, PMID:25516398, PMID:25525159, PMID:25550050, PMID:25569433, PMID:25616645, PMID:25637381, PMID:25661095, PMID:25676813, PMID:25691752, PMID:25693453, PMID:25741868, PMID:25765472, PMID:25820315, PMID:26073755, PMID:26138720, PMID:26220970, PMID:26230511, PMID:26332594, PMID:26383259, PMID:26399581, PMID:26406308, PMID:26498160, PMID:26569459, PMID:26585738, PMID:26656175, PMID:26688388, PMID:26743238, PMID:26899768, PMID:27097650, PMID:27153395, PMID:27329731, PMID:27435932, PMID:27532257, PMID:27707468, PMID:27884173, PMID:27930701, PMID:28074886, PMID:28087426, PMID:28254189, PMID:28255936, PMID:28301460, PMID:28341588, PMID:28416588, PMID:28442525, PMID:28471438, PMID:28473349, PMID:28492532, PMID:28527814, PMID:28611029, PMID:28759816, PMID:28798025, PMID:28912206, PMID:29253866, PMID:29420653, PMID:29511324, PMID:29750433, PMID:29759408, PMID:30165862, PMID:30311386, PMID:30382575, PMID:30820396, PMID:31333075, PMID:31568572 NCBI chrNW_004955465:6,356,970...6,391,206 JBrowse link
G Dtna dystrobrevin alpha ISO ClinVar Annotator: match by term: Cardiomyopathy RGD
ClinVar
PMID:10559919, PMID:11238270, PMID:24033266, PMID:28492532 RGD:1580893, RGD:1580894 NCBI chrNW_004955402:21,414,122...21,676,389 JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11589785 NCBI chrNW_004955465:2,287,906...2,314,945 JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:20474083, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chrNW_004955580:864,532...866,904 JBrowse link
G Ep300 E1A binding protein p300 ISO protein:increased expression:heart left ventricle, nucleus (human) RGD PMID:20375365 RGD:7364750 NCBI chrNW_004955413:26,647,553...26,727,875 JBrowse link
G Epg5 ectopic P-granules autophagy protein 5 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23222957 NCBI chrNW_004955402:31,422,848...31,532,189 JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16449733, PMID:16731534, PMID:17924179, PMID:17928571 NCBI chrNW_004955573:203,875...206,078 JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10716473, PMID:10920071, PMID:17943461 NCBI chrNW_004955425:3,961,671...3,987,513 JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:16324756, PMID:17943461 NCBI chrNW_004955406:13,098,479...13,107,045 JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:17416352, PMID:24033266, PMID:25741868, PMID:26627873, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chrNW_004955470:10,240,117...10,286,117 JBrowse link
G Fkbp1b FKBP prolyl isomerase 1B ISO associated with Diabetes Mellitus, Experimental RGD PMID:19000375 RGD:2302065 NCBI chrNW_004955469:6,263,271...6,274,823 JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:16344347, PMID:16368217, PMID:17994539, PMID:18832576, PMID:21816046, PMID:24556424, PMID:25741868, PMID:26467025, PMID:26990548, PMID:28492532 NCBI chrNW_004955574:779,672...789,621 JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:14627679, PMID:17878207, PMID:21102627, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chrNW_004955419:20,933,662...20,994,793 JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chrNW_004955577:672,774...694,140 JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chrNW_004955479:9,633,817...9,661,725 JBrowse link
G Gaa glucosidase alpha, acid ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25466677, PMID:25741868, PMID:27183828, PMID:28492532, PMID:29149851, PMID:31076647 NCBI chrNW_004955506:2,764,959...2,783,231 JBrowse link
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:2393552, PMID:7504405, PMID:8411052, PMID:8807334, PMID:8875188, PMID:9100224, PMID:9452111, PMID:11668641, PMID:11828341, PMID:11914245, PMID:14635108, PMID:14680977, PMID:15776423, PMID:15806320, PMID:16232095, PMID:16533976, PMID:16595074, PMID:16754800, PMID:16773563, PMID:17040996, PMID:17532296, PMID:17804462, PMID:18057066, PMID:18154965, PMID:18205205, PMID:18297328, PMID:18596132, PMID:18830871, PMID:19373884, PMID:19621417, PMID:19823873, PMID:20031620, PMID:20110537, PMID:20122163, PMID:20360539, PMID:20464614, PMID:20716442, PMID:20821055, PMID:21092187, PMID:21229318, PMID:21517827, PMID:21549080, PMID:21598360, PMID:21683120, PMID:21890869, PMID:21946453, PMID:22205110, PMID:22226368, PMID:22437327, PMID:22551898, PMID:22682330, PMID:22805550, PMID:23109060, PMID:23219219, PMID:23306324, PMID:23393592, PMID:23430502, PMID:23430526, PMID:23677059, PMID:23922385, PMID:23935525, PMID:24033266, PMID:24082139, PMID:24365053, PMID:24380807, PMID:24386359, PMID:24395922, PMID:24582695, PMID:24661928, PMID:24784157, PMID:24829596, PMID:25040344, PMID:25078086, PMID:25179549, PMID:25382311, PMID:25468652, PMID:25611685, PMID:25637381, PMID:25741868, PMID:26252393, PMID:26305465, PMID:26415523, PMID:26866599, PMID:27142856, PMID:27532257, PMID:27554049, PMID:27595546, PMID:27832731, PMID:27931613, PMID:27979989, PMID:28082092, PMID:28299312, PMID:28377241, PMID:28409012, PMID:28430823, PMID:28492532, PMID:28596458, PMID:28646478, PMID:28799081, PMID:28941980, PMID:29215092, PMID:29330335, PMID:29631605, PMID:29867742, PMID:29982630, PMID:30311386, PMID:30569317, PMID:30773290, PMID:31291414, PMID:31449323, PMID:31566927, PMID:31654629, PMID:31907047, PMID:32418857, PMID:32531501 NCBI chrNW_004955503:7,526,077...7,535,817 JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO mRNA:decreased expression:myocardium (rat) RGD PMID:20733562 RGD:13504856 NCBI chrNW_004955507:5,346,937...5,370,072 JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chrNW_004955430:23,481,957...23,536,407 JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:17008600 NCBI chrNW_004955422:18,173,438...18,192,357 JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23623143, PMID:23861362, PMID:25145518, PMID:25145519, PMID:25642760, PMID:25741868, PMID:26467025, PMID:27173043, PMID:27182706, PMID:27659478, PMID:28104484, PMID:28182231, PMID:28254189, PMID:28341588, PMID:28492532 NCBI chrNW_004955450:4,139,852...4,181,377 JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chrNW_004955475:11,748,502...12,012,884 JBrowse link
G Hfe homeostatic iron regulator treatment
no_association
ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.C282Y (human)
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.H63D (human)
RGD PMID:23861158 RGD:10755538 NCBI chrNW_004955483:933,269...941,070 JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:16109756, PMID:18083897 NCBI chrNW_004955410:4,114,280...4,181,953 JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12967636 NCBI chrNW_004955403:3,062,724...3,073,419 JBrowse link
G Htra2 HtrA serine peptidase 2 ISO RGD PMID:22976834 RGD:10402865 NCBI chrNW_004955424:11,255,756...11,259,170 JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO associated with Diabetes Mellitus, Experimental;mRNA:increased expression:myocardium RGD PMID:17686258 RGD:2311503 NCBI chrNW_004955416:26,101,090...26,382,660 JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004955470:1,527,710...1,538,418 JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004955470:1,486,936...1,491,888 JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7578376 NCBI chrNW_004955408:4,058,052...4,065,999 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10716473 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Ilk integrin linked kinase ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955414:22,316,243...22,322,979 JBrowse link
G Insr insulin receptor ISO RGD PMID:11877471 RGD:1302524 NCBI chrNW_004955563:1,867,400...2,011,845 JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 ISO mRNA:decreased expression:heart left ventricle RGD PMID:23619365 RGD:7495791 NCBI chrNW_004955580:663,651...668,622 JBrowse link
G Itga7 integrin subunit alpha 7 treatment ISO RGD PMID:15632017 RGD:13601980 NCBI chrNW_004955458:3,322,735...3,343,275 JBrowse link
G Itgb1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chrNW_004955462:4,454,809...4,483,227 JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:22584458, PMID:23834499, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955445:13,117,312...13,190,061 JBrowse link
G Jup junction plakoglobin ISO Naxos disease, OMIM:601214 DNA:deletion:CDS:2157delTG
ClinVar Annotator: match by term: Cardiomyopathy
RGD
ClinVar
PMID:10902626, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 RGD:1600286 NCBI chrNW_004955451:15,993,055...16,004,152 JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:8899564, PMID:9445165, PMID:10807545, PMID:12402336, PMID:14661677, PMID:14760488, PMID:15051636, PMID:15599693, PMID:16132053, PMID:16266404, PMID:16487223, PMID:16823764, PMID:16887036, PMID:16922724, PMID:17016049, PMID:17161064, PMID:17210839, PMID:18426444, PMID:19305408, PMID:19695459, PMID:20823649, PMID:21244686, PMID:21712262, PMID:22100668, PMID:22378279, PMID:22581653, PMID:23861362, PMID:24033266, PMID:24400172, PMID:24499369, PMID:24561134, PMID:25737393, PMID:25741868, PMID:26132555, PMID:26743238, PMID:28003625, PMID:28492532, PMID:29625280, PMID:30311386, PMID:30847666, PMID:30910390, PMID:31308327, PMID:31376648 NCBI chrNW_004955407:33,807,581...33,814,356 JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:11207363, PMID:12414843, PMID:14504341, PMID:15037716, PMID:15212652, PMID:16449802, PMID:17395131, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004955414:17,166,537...17,200,385 JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:14661677, PMID:14678125, PMID:16556865, PMID:17161064, PMID:17210839, PMID:17470695, PMID:19841300, PMID:19862833, PMID:21185501, PMID:22581653, PMID:22677073, PMID:22949429, PMID:23571586, PMID:23861362, PMID:24033266, PMID:25741868, PMID:26498160, PMID:28492532 NCBI chrNW_004955422:14,212,563...14,544,556 JBrowse link
G Klk1 kallikrein 1 ISO associated with Diabetes Mellitus, Experimental RGD PMID:15117887 RGD:1641802 NCBI chrNW_004955559:457,030...461,086 JBrowse link
G Kras KRAS proto-oncogene, GTPase no_association ISO RGD PMID:24259500 RGD:11568677 NCBI chrNW_004955413:20,298,852...20,328,756 JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:17646580, PMID:20890277, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532, PMID:28798025, PMID:31333075, PMID:31568572 NCBI chrNW_004955526:4,330,388...4,465,810 JBrowse link
G Lamp2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23785128, PMID:24033266, PMID:25091525, PMID:25741868, PMID:27600940, PMID:28492532, PMID:28771489 NCBI chrNW_004955572:1,423,048...1,464,443 JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:11696561, PMID:14662268, PMID:15668942, PMID:17235623, PMID:17337483, PMID:17438622, PMID:18765652, PMID:19028670, PMID:19377068, PMID:19412328, PMID:20474083, PMID:20590677, PMID:21952291, PMID:22337857, PMID:23263837, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24503780, PMID:24647531, PMID:24668811, PMID:25041374, PMID:25208129, PMID:25326637, PMID:25616123, PMID:25741868, PMID:26350513, PMID:26467025, PMID:27618136, PMID:27884173, PMID:27896284, PMID:28349680, PMID:28492532, PMID:28798025, PMID:29032884 NCBI chrNW_004955510:5,738,254...5,793,643 JBrowse link
G Ldha lactate dehydrogenase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15231041 NCBI chrNW_004955414:33,087,745...33,100,846 JBrowse link
G Lipc lipase C, hepatic type ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chrNW_004955450:15,947,869...16,062,449 JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:2007407, PMID:2280636, PMID:2526018, PMID:10080180, PMID:10580070, PMID:10587585, PMID:10612827, PMID:10655060, PMID:10739751, PMID:10810087, PMID:10868844, PMID:10999791, PMID:10999845, PMID:11078466, PMID:11102973, PMID:11136544, PMID:11180602, PMID:11503164, PMID:11561226, PMID:11792809, PMID:11799477, PMID:11897440, PMID:12015247, PMID:12057196, PMID:12075506, PMID:12196663, PMID:12376891, PMID:12467734, PMID:12467752, PMID:12628721, PMID:12629077, PMID:12647844, PMID:12702809, PMID:12716787, PMID:12768443, PMID:12788894, PMID:12920062, PMID:12927424, PMID:12927431, PMID:14597414, PMID:14607793, PMID:14615128, PMID:14627682, PMID:14749366, PMID:15060110, PMID:15140538, PMID:15205219, PMID:15298354, PMID:15372542, PMID:15475483, PMID:15770669, PMID:15919811, PMID:15965218, PMID:15998779, PMID:16174718, PMID:16181372, PMID:16278265, PMID:16364671, PMID:16407522, PMID:16415042, PMID:16478798, PMID:16585054, PMID:16809772, PMID:16825282, PMID:17107595, PMID:17250669, PMID:17250699, PMID:17334235, PMID:17347251, PMID:17377071, PMID:17536044, PMID:17612587, PMID:17711925, PMID:17848409, PMID:18035086, PMID:18396274, PMID:18414213, PMID:18478590, PMID:18549403, PMID:18585512, PMID:18604166, PMID:18728124, PMID:18795223, PMID:18796515, PMID:18926329, PMID:19011997, PMID:19084400, PMID:19201734, PMID:19318026, PMID:19418082, PMID:19424285, PMID:19427440, PMID:19432833, PMID:19524666, PMID:19589617, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19768759, PMID:19859838, PMID:19875404, PMID:19882644, PMID:20041886, PMID:20130076, PMID:20160190, PMID:20307303, PMID:20497714, PMID:20625965, PMID:20627339, PMID:20709679, PMID:20848652, PMID:20980393, PMID:21315846, PMID:21520333, PMID:21535365, PMID:21831885, PMID:21846512, PMID:21883346, PMID:21980471, PMID:22071332, PMID:22177269, PMID:22199124, PMID:22224630, PMID:22276265, PMID:22326558, PMID:22331516, PMID:22355414, PMID:22413764, PMID:22431096, PMID:22526018, PMID:22570643, PMID:22700598, PMID:22918509, PMID:23062543, PMID:23142632, PMID:23183350, PMID:23313286, PMID:23328570, PMID:23349452, PMID:23362510, PMID:23427149, PMID:23497705, PMID:23701190, PMID:23757202, PMID:23785128, PMID:23853504, PMID:23861362, PMID:23977161, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24169522, PMID:24237251, PMID:24375749, PMID:24386194, PMID:24503780, PMID:24623722, PMID:24642510, PMID:24721642, PMID:24768879, PMID:24794538, PMID:24846508, PMID:24943589, PMID:25025039, PMID:25049529, PMID:25163546, PMID:25214167, PMID:25286833, PMID:25324471, PMID:25351510, PMID:25367549, PMID:25448463, PMID:25469153, PMID:25617006, PMID:25637381, PMID:25741868, PMID:25823658, PMID:25873806, PMID:25982065, PMID:26084686, PMID:26183555, PMID:26332594, PMID:26383259, PMID:26383716, PMID:26404900, PMID:26467025, PMID:26498160, PMID:26573435, PMID:26602028, PMID:26662654, PMID:26752647, PMID:26899768, PMID:26900797, PMID:27000522, PMID:27153395, PMID:27199538, PMID:27447704, PMID:27532257, PMID:27633507, PMID:27723096, PMID:27813223, PMID:27841971, PMID:27884249, PMID:27886618, PMID:27896052, PMID:27896284, PMID:27919367, PMID:28069705, PMID:28074886, PMID:28087566, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28518168, PMID:28531892, PMID:28663758, PMID:28679633, PMID:28686329, PMID:28688748, PMID:28701371, PMID:28785654, PMID:28790152, PMID:28807990, PMID:28874324, PMID:29078011, PMID:29095976, PMID:29237675, PMID:29237690, PMID:29382405, PMID:29386531, PMID:29432544, PMID:29693488, PMID:29791652, PMID:29970176, PMID:30311386, PMID:30420677, PMID:30488537 NCBI chrNW_004955545:2,290,076...2,310,982 JBrowse link
G LOC102014998 cytochrome b-c1 complex subunit Rieske, mitochondrial ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:31883641 NCBI chrNW_004955468:8,331,153...8,338,628 JBrowse link
G LOC102017801 cytochrome c oxidase assembly protein COX15 homolog ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004955507:5,600,605...5,617,556 JBrowse link
G LOC106146232 protein SCO2 homolog, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy
CTD
ClinVar
PMID:16326995, PMID:30311386 NCBI chrNW_004955413:33,503,882...33,505,417 JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10533957 NCBI chrNW_004955403:43,646,084...43,672,116 JBrowse link
G Lrpprc leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004955441:11,012,910...11,116,965 JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18342293 NCBI chrNW_004955439:162,499...376,919 JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:10620750 NCBI chrNW_004955442:17,284,232...17,380,026 JBrowse link
G Mapk11 mitogen-activated protein kinase 11 ISO CTD Direct Evidence: therapeutic CTD PMID:10620750 NCBI chrNW_004955413:33,287,860...33,293,948 JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10620750 NCBI chrNW_004955437:3,836,331...3,884,083 JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:10620750 NCBI chrNW_004955493:6,870,699...6,876,836 JBrowse link
G Mapt microtubule associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:29068127 NCBI chrNW_004955478:10,222,439...10,271,439 JBrowse link
G Megf10 multiple EGF like domains 10 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004955415:393,642...513,157 JBrowse link
G Mif macrophage migration inhibitory factor ISO associated with Endotoxemia RGD PMID:15879312 RGD:1641991 NCBI chrNW_004955455:8,367,566...8,368,460 JBrowse link
G Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:27799064, PMID:28492532 NCBI chrNW_004955497:4,065,090...4,196,999 JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004955412:6,106,994...6,118,760 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:16681691 RGD:1581215 NCBI chrNW_004955433:13,024,844...13,050,041 JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:16681691, PMID:21810612 RGD:13204757, RGD:1581215 NCBI chrNW_004955445:11,295,500...11,303,322 JBrowse link
G Mybpc3 myosin binding protein C3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Familial cardiomyopathy
CTD
ClinVar
PMID:1853307, PMID:2073894, PMID:2732257, PMID:2943217, PMID:3140859, PMID:7493025, PMID:7493026, PMID:9048664, PMID:9503187, PMID:9541104, PMID:9541115, PMID:9562578, PMID:9631872, PMID:9742053, PMID:10424815, PMID:10521296, PMID:10610770, PMID:10736283, PMID:11499718, PMID:11499719, PMID:11748309, PMID:11815426, PMID:11847170, PMID:12110947, PMID:12117842, PMID:12202917, PMID:12386147, PMID:12403824, PMID:12566107, PMID:12628722, PMID:12707239, PMID:12787675, PMID:12788380, PMID:12818575, PMID:12951062, PMID:12974739, PMID:14563344, PMID:14613868, PMID:14718142, PMID:15010274, PMID:15114369, PMID:15115610, PMID:15166115, PMID:15519027, PMID:15563892, PMID:15671604, PMID:15769446, PMID:15823648, PMID:15936968, PMID:16004897, PMID:16061003, PMID:16181148, PMID:16199542, PMID:16267253, PMID:16335287, PMID:16352453, PMID:16566405, PMID:16651346, PMID:16679492, PMID:16715312, PMID:16754800, PMID:16831826, PMID:16858239, PMID:17081393, PMID:17386157, PMID:17536430, PMID:17560888, PMID:17612681, PMID:17908752, PMID:17937428, PMID:18258667, PMID:18273486, PMID:18337725, PMID:18374358, PMID:18400036, PMID:18403758, PMID:18409188, PMID:18414213, PMID:18467358, PMID:18533079, PMID:18713777, PMID:18761664, PMID:18809796, PMID:18926831, PMID:18929575, PMID:18957093, PMID:19035361, PMID:19150014, PMID:19151713, PMID:19273718, PMID:19293840, PMID:19356534, PMID:19574547, PMID:19590044, PMID:19632136, PMID:19659763, PMID:19666645, PMID:19808356, PMID:19858127, PMID:19996403, PMID:20019025, PMID:20031602, PMID:20031618, PMID:20031619, PMID:20045868, PMID:20051424, PMID:20128375, PMID:20159828, PMID:20173211, PMID:20201939, PMID:20215591, PMID:20298698, PMID:20359594, PMID:20378854, PMID:20414521, PMID:20433692, PMID:20435227, PMID:20439259, PMID:20458009, PMID:20474083, PMID:20505798, PMID:20513729, PMID:20530761, PMID:20542340, PMID:20624503, PMID:20738943, PMID:20800588, PMID:20818890, PMID:20864638, PMID:20975235, PMID:21185001, PMID:21239446, PMID:21297165, PMID:21302287, PMID:21310275, PMID:21415409, PMID:21424860, PMID:21425739, PMID:21472310, PMID:21488259, PMID:21488307, PMID:21492761, PMID:21499742, PMID:21511876, PMID:21520333, PMID:21551322, PMID:21638988, PMID:21750094, PMID:21832025, PMID:21832052, PMID:21835286, PMID:21835320, PMID:21839045, PMID:21915287, PMID:21939669, PMID:21943931, PMID:21959974, PMID:21985754, PMID:22057632, PMID:22112859, PMID:22115648, PMID:22122802, PMID:22177269, PMID:22194935, PMID:22267749, PMID:22337857, PMID:22361390, PMID:22386539, PMID:22429680, PMID:22455086, PMID:22462493, PMID:22464770, PMID:22555271, PMID:22560514, PMID:22563033, PMID:22569109, PMID:22574137, PMID:22589294, PMID:22763267, PMID:22765922, PMID:22857948, PMID:22907696, PMID:22958901, PMID:22995991, PMID:23054336, PMID:23074333, PMID:23140321, PMID:23197398, PMID:23217326, PMID:23233322, PMID:23283745, PMID:23299917, PMID:23348723, PMID:23349452, PMID:23396983, PMID:23418287, PMID:23508784, PMID:23527136, PMID:23534983, PMID:23549607, PMID:23642604, PMID:23674513, PMID:23690394, PMID:23711808, PMID:23782526, PMID:23785128, PMID:23820649, PMID:23840593, PMID:23861362, PMID:23980194, PMID:24033266, PMID:24055113, PMID:24062880, PMID:24093860, PMID:24111713, PMID:24113344, PMID:24119082, PMID:24327208, PMID:24447051, PMID:24503780, PMID:24510615, PMID:24621997, PMID:24704860, PMID:24721642, PMID:24774285, PMID:24774606, PMID:24793961, PMID:24795128, PMID:24810389, PMID:24835277, PMID:24865491, PMID:25031304, PMID:25037680, PMID:25058872, PMID:25078086, PMID:25086479, PMID:25127965, PMID:25132132, PMID:25163546, PMID:25210889, PMID:25214167, PMID:25281569, PMID:25335496, PMID:25342278, PMID:25351510, PMID:25377941, PMID:25443708, PMID:25447171, PMID:25524337, PMID:25525159, PMID:25543971, PMID:25558701, PMID:25569433, PMID:25583989, PMID:25611685, PMID:25637381, PMID:25740977, PMID:25741868, PMID:25741869, PMID:25849606, PMID:25856671, PMID:25971843, PMID:26090888, PMID:26163040, PMID:26178432, PMID:26189708, PMID:26267065, PMID:26332198, PMID:26332594, PMID:26383716, PMID:26458567, PMID:26467025, PMID:26497160, PMID:26654849, PMID:26656175, PMID:26671970, PMID:26688216, PMID:26743238, PMID:26822237, PMID:26899768, PMID:26914223, PMID:26936621, PMID:27000522, PMID:27096365, PMID:27108529, PMID:27112610, PMID:27153395, PMID:27173948, PMID:27194543, PMID:27267291, PMID:27332903, PMID:27418595, PMID:27435932, PMID:27483260, PMID:27532257, PMID:27561770, PMID:27576561, PMID:27590665, PMID:27600940, PMID:27618852, PMID:27650965, PMID:27688314, PMID:27737317, PMID:27831900, PMID:27834932, PMID:27841901, PMID:27854218, PMID:27896284, PMID:27930701, PMID:28024942, PMID:28074886, PMID:28087566, PMID:28138913, PMID:28166282, PMID:28193612, PMID:28202948, PMID:28214152, PMID:28241245, PMID:28323875, PMID:28356264, PMID:28408708, PMID:28416588, PMID:28420666, PMID:28436997, PMID:28492532, PMID:28498465, PMID:28518168, PMID:28538763, PMID:28614222, PMID:28615295, PMID:28640247, PMID:28658286, PMID:28679633, PMID:28750076, PMID:28771489, PMID:28790153, PMID:28794111, PMID:28798025, PMID:28807990, PMID:28840316, PMID:28843747, PMID:28855170, PMID:28971120, PMID:29029073, PMID:29032884, PMID:29121657, PMID:29212898, PMID:29247119, PMID:29367541, PMID:29398688, PMID:29447731, PMID:29493010, PMID:29497013, PMID:29540472, PMID:29555771, PMID:29661763, PMID:29663722, PMID:29709087, PMID:29710196, PMID:29875314, PMID:29875424, PMID:29907873, PMID:29988065, PMID:30025578, PMID:30165862, PMID:30188508, PMID:30206291, PMID:30297972, PMID:30311386, PMID:30645170, PMID:30762279, PMID:30790116, PMID:30871747, PMID:30896616, PMID:30959811, PMID:30972196, PMID:397516074 NCBI chrNW_004955422:888,529...902,074 JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004955442:528,317...644,252 JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:08673105, PMID:9724616, PMID:10948063, PMID:11102452, PMID:11748309, PMID:12404107, PMID:12668451, PMID:14594949, PMID:15483641, PMID:15706574, PMID:16076902, PMID:16751284, PMID:16837010, PMID:17606808, PMID:18506004, PMID:18533079, PMID:18929571, PMID:19150977, PMID:20173211, PMID:20855589, PMID:21310275, PMID:21415409, PMID:21823217, PMID:21896538, PMID:22091967, PMID:22260945, PMID:22797899, PMID:22958901, PMID:23197161, PMID:23299917, PMID:23343568, PMID:23396983, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24111713, PMID:25324513, PMID:25333069, PMID:25342278, PMID:25351510, PMID:25524337, PMID:25611685, PMID:25637381, PMID:25741868, PMID:26116789, PMID:26284228, PMID:26497160, PMID:26656175, PMID:26664906, PMID:26936621, PMID:27153395, PMID:27435932, PMID:27483260, PMID:27532257, PMID:27600940, PMID:28223422, PMID:28467684, PMID:28492532, PMID:28611029, PMID:28771489, PMID:29099038, PMID:30403391 NCBI chrNW_004955482:7,708,436...7,713,877 JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:8673105, PMID:11174330, PMID:12021217, PMID:16754800, PMID:17142342, PMID:18403758, PMID:18409188, PMID:20641121, PMID:21239446, PMID:21823217, PMID:21885653, PMID:22131351, PMID:22957257, PMID:22958901, PMID:23054336, PMID:23283745, PMID:23396983, PMID:23426552, PMID:23549607, PMID:23594557, PMID:23748425, PMID:24033266, PMID:24111713, PMID:24503780, PMID:24510615, PMID:25086479, PMID:25132132, PMID:25342278, PMID:25351510, PMID:25611685, PMID:25637381, PMID:25741868, PMID:25856671, PMID:25910212, PMID:26385864, PMID:26443374, PMID:26633542, PMID:27153395, PMID:27483260, PMID:27532257, PMID:27574918, PMID:27831900, PMID:28193612, PMID:28356264, PMID:28371863, PMID:28492532, PMID:28518168, PMID:28615295, PMID:28658286, PMID:28771489, PMID:28790153, PMID:28971120, PMID:29121657, PMID:29420653, PMID:29669825, PMID:29709087, PMID:29710196, PMID:29914921, PMID:30297972, PMID:30706179, PMID:31110529, PMID:31199839, PMID:31447099 NCBI chrNW_004955420:25,308,513...25,311,959 JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:11733062, PMID:22995991, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532 NCBI chrNW_004955422:29,141,699...29,154,927 JBrowse link
G Myot myotilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy
CTD
ClinVar
PMID:15111675, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chrNW_004955408:32,816,133...32,835,230 JBrowse link
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:17434779, PMID:19472918, PMID:23861362, PMID:24033266, PMID:25741868, PMID:27532257, PMID:28492532 NCBI chrNW_004955428:21,052,352...21,088,468 JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18006477, PMID:20801532, PMID:22286171, PMID:23299917, PMID:23861362, PMID:24033266, PMID:25741868, PMID:27884173, PMID:27896284, PMID:28492532 NCBI chrNW_004955425:20,461,654...20,545,626 JBrowse link
G Ncaph2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chrNW_004955413:33,492,348...33,503,804 JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004955442:495,704...530,296 JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chrNW_004955468:12,961,873...12,971,278 JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chrNW_004955402:2,802,366...2,818,049 JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:28492532 NCBI chrNW_004955429:7,559,994...7,730,683 JBrowse link
G Nexn nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:19881492, PMID:20970104, PMID:24033266, PMID:24503780, PMID:25741868, PMID:25979592, PMID:28087566, PMID:28492532, PMID:28798025 NCBI chrNW_004955423:15,278,526...15,299,654 JBrowse link
G Nos1 nitric oxide synthase 1 ISO associated with Diabetes Mellitus, Experimental;protein:increased expression:cardiomyocyte RGD PMID:17721248 RGD:1642134 NCBI chrNW_004955455:13,797,557...13,978,402 JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Diabetes Mellitus, Experimental;protein:decreased expression:heart
associated with Beta-Thalassemia;DNA:repeats:intron:
RGD PMID:17589825, PMID:25699607 RGD:11533642, RGD:1642825 NCBI chrNW_004955491:5,438,228...5,457,308 JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:14745153, PMID:16127512 NCBI chrNW_004955486:2,054,775...2,056,130 JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004955429:9,594,964...9,639,614 JBrowse link
G Opa1 OPA1 mitochondrial dynamin like GTPase onset ISO RGD PMID:23316298 RGD:7800701 NCBI chrNW_004955420:14,927,490...15,007,082 JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:2014036, PMID:2044609, PMID:8556304, PMID:8889590, PMID:9399896, PMID:9450897, PMID:10479481, PMID:11385716, PMID:12501224, PMID:12655544, PMID:12655553, PMID:15557004, PMID:17935162, PMID:18538294, PMID:19036622, PMID:20063067, PMID:21871829, PMID:21953985, PMID:22112818, PMID:22526846, PMID:23500595, PMID:23764561, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26542770, PMID:26666653, PMID:28492532, PMID:30311386 NCBI chrNW_004955405:37,848,486...37,909,163 JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chrNW_004955489:520,875...557,609 JBrowse link
G Pde2a phosphodiesterase 2A ISO associated with Liver Cirrhosis;mRNA:increased expression:cardiac myocyte: RGD PMID:19003918 RGD:10449440 NCBI chrNW_004955414:18,765,591...18,826,717 JBrowse link
G Pdk2 pyruvate dehydrogenase kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chrNW_004955451:11,547,660...11,559,266 JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955403:23,546,291...23,579,975 JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:189621, PMID:2163603, PMID:2412583, PMID:15489853, PMID:16101641, PMID:16415378, PMID:16549640, PMID:16567567, PMID:16774985, PMID:16893920, PMID:17010805, PMID:17041889, 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: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:21723241, PMID:21822014, PMID:21859740, PMID:22019812, PMID:22035158, PMID:22036071, PMID:22170284, PMID:22177269, PMID:22214898, PMID:22781308, PMID:23137101, PMID:23178689, PMID:23270881, PMID:23299917, PMID:23347029, PMID:23354045, PMID:23396983, PMID:23514727, PMID:23671136, PMID:23810883, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23871674, PMID:23889974, PMID:23911551, PMID:23962865, PMID:23973953, PMID:24033266, PMID:24055113, PMID:24125834, PMID:24200904, PMID:24200905, PMID:24352520, PMID:24503780, PMID:24558114, PMID:24585727, PMID:24632794, PMID:24704780, PMID:24768880, PMID:24784157, PMID:24832006, PMID:24967631, PMID:25087486, PMID:25157032, PMID:25163546, PMID:25196244, PMID:25332820, PMID:25351510, PMID:25395996, PMID:25445213, PMID:25447171, PMID:25525159, PMID:25616645, PMID:25637381, PMID:25650408, PMID:25676813, PMID:25741868, PMID:25741869, PMID:25765472, PMID:25820315, PMID:25825243, PMID:25971409, PMID:25979592, PMID:25998140, PMID:26220970, PMID:26230511, PMID:26264440, PMID:26332594, PMID:26406308, PMID:26498160, PMID:26656175, PMID:26676851, PMID:26743238, PMID:26887364, PMID:27000522, PMID:27005929, PMID:27066507, PMID:27085656, PMID:27122407, PMID:27153395, PMID:27335691, PMID:27532257, PMID:27711072, PMID:27727376, PMID:27930701, PMID:28097316, PMID:28166282, PMID:28166811, PMID:28177452, PMID:28253841, PMID:28255936, PMID:28301460, PMID:28341588, PMID:28431057, PMID:28471438, PMID:28492532, PMID:28518168, PMID:28588093, PMID:28600387, PMID:28611399, PMID:28705875, PMID:28807990, PMID:29099038, PMID:29128982, PMID:29178656, PMID:29221435, PMID:29247119, PMID:29288195, PMID:29497013, PMID:29540472, PMID:29582136, PMID:29802319, PMID:29997227, PMID:30279520, PMID:30311386, PMID:30354609, PMID:30445427, PMID:30615648, PMID:30656044, PMID:30662450, PMID:30677492, PMID:30764827, PMID:30765282, PMID:30790397, PMID:30821013, PMID:31333075, PMID:31539150, PMID:31568572 NCBI chrNW_004955505:2,878,001...2,959,299 JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12610310, PMID:12639993, PMID:16235537, 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:25593317, PMID:25611685, PMID:25741868, PMID:25928149, PMID:26535225, PMID:26917049, PMID:27532257, PMID:28492532, PMID:28600387 NCBI chrNW_004955436:1,439,098...1,447,070 JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO RGD PMID:17310215 RGD:8694182 NCBI chrNW_004955416:15,773,005...15,788,736 JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6143199 NCBI chrNW_004955469:7,217,233...7,220,401 JBrowse link
G Pomt1 protein O-mannosyltransferase 1 ISO associated with Muscular Dystrophies RGD PMID:22549409 RGD:11069993 NCBI chrNW_004955513:1,189,169...1,203,933 JBrowse link
G Ppard peroxisome proliferator activated receptor delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20075336 NCBI chrNW_004955437:3,285,281...3,354,099 JBrowse link
G Ppp1r1a protein phosphatase 1 regulatory inhibitor subunit 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20071777 NCBI chrNW_004955458:1,819,366...1,823,864 JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chrNW_004955464:2,996,608...3,062,197 JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: PRKAG2 cardiac syndrome
ClinVar PMID:10355918, PMID:10820940, PMID:11407343, PMID:11827995, PMID:14519435, PMID:14722619, PMID:15611370, PMID:15673802, PMID:16836667, PMID:17483151, PMID:17711718, PMID:18811822, PMID:19808419, PMID:20031621, PMID:20381067, PMID:20888928, PMID:21409595, PMID:22555271, PMID:23778007, PMID:23829931, PMID:23992123, PMID:24033266, PMID:24503780, PMID:25741868, PMID:25997934, PMID:27532257, PMID:28341588, PMID:28431061, PMID:28492532, PMID:28498465, PMID:28771489, PMID:28917552, PMID:29121657, PMID:29247119, PMID:29298659, PMID:30311386 NCBI chrNW_004955491:5,852,534...6,048,820 JBrowse link
G Prkce protein kinase C epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:15242976 NCBI chrNW_004955441:12,642,703...13,142,396 JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29068127 NCBI chrNW_004955523:2,128,529...2,210,737 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11978490 NCBI chrNW_004955406:25,077,988...25,086,259 JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18759865, PMID:21934682, PMID:22923420, PMID:24033266, PMID:24803665, PMID:25500235, PMID:25612910, PMID:25741868, PMID:27153395, PMID:28051113, PMID:28492532 NCBI chrNW_004955482:8,934,734...9,031,230 JBrowse link
G Rad51 RAD51 recombinase treatment ISO RGD PMID:22384017 RGD:7240549 NCBI chrNW_004955416:7,566,715...7,590,628 JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18585512, PMID:19712804, PMID:20590677, PMID:21483645, PMID:22004663, PMID:22466703, PMID:23396983, PMID:23861363, PMID:23886709, PMID:24033266, PMID:24503780, PMID:25351510, PMID:25637381, PMID:25741868, PMID:26084686, PMID:26498160, PMID:26656175, PMID:27296017, PMID:27496873, PMID:27896284, PMID:28492532, PMID:29247119, PMID:29650543, PMID:30311386, PMID:30775854 NCBI chrNW_004955485:590,094...769,604 JBrowse link
G Rhoj ras homolog family member J ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chrNW_004955466:6,476,822...6,564,890 JBrowse link
G Runx1 RUNX family transcription factor 1 ISO RGD PMID:12937148 RGD:1304428 NCBI chrNW_004955407:34,108,653...34,342,657 JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar PMID:1572740, PMID:8589694, PMID:11157710, PMID:11159936, PMID:11208676, PMID:12106942, PMID:15197150, PMID:15466642, PMID:15544015, PMID:15887426, PMID:16188589, PMID:16272262, PMID:16436635, PMID:16769042, PMID:17062961, PMID:17558603, PMID:17875969, PMID:18326664, PMID:18483626, PMID:18752142, PMID:19216760, PMID:19345240, PMID:19362677, PMID:19398665, PMID:19597050, PMID:19709828, PMID:19781797, PMID:19926015, PMID:20157052, PMID:21315846, PMID:21454795, PMID:21478052, PMID:21616285, PMID:21659649, PMID:21964171, PMID:22221940, PMID:22222782, PMID:22373669, PMID:22374134, PMID:22396703, PMID:22515980, PMID:22584762, PMID:22677073, PMID:22787013, PMID:23022705, PMID:23152493, PMID:23204524, PMID:23286974, PMID:23396983, PMID:23595086, PMID:23757202, PMID:23820649, PMID:23861362, PMID:23871484, PMID:24025405, PMID:24033266, PMID:24055113, PMID:24447446, 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:26018045, PMID:26132555, PMID:26153920, PMID:26189708, PMID:26272908, PMID:26332594, PMID:26383259, PMID:26498160, PMID:26569459, PMID:26633542, PMID:26656175, PMID:26688388, PMID:26704558, PMID:26743238, PMID:26899768, PMID:27054166, PMID:27153395, PMID:27194543, PMID:27229459, PMID:27231019, PMID:27332903, PMID:27435932, PMID:27532257, PMID:27538377, PMID:27650965, PMID:27727376, PMID:27756708, PMID:27930701, PMID:28125075, PMID:28202948, PMID:28237968, PMID:28256248, PMID:28404607, PMID:28416588, PMID:28422759, PMID:28449774, PMID:28492532, PMID:28567303, PMID:28686619, PMID:28697927, PMID:28771489, PMID:28798025, PMID:29247119, PMID:29368431, PMID:29396286, PMID:29453246, PMID:29511324, PMID:29555771, PMID:30311386, PMID:30403697, PMID:30615648, PMID:30835254, PMID:31333075, PMID:31568572 NCBI chrNW_004955492:2,647,597...3,275,512 JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chrNW_004955468:4,375,517...4,383,383 JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23257389, PMID:23861362, PMID:24033266, PMID:25741868, PMID:27435932, PMID:27711072, PMID:28492532, PMID:30662450 NCBI chrNW_004955412:24,391,764...24,412,912 JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:10807545, PMID:10966831, PMID:11901046, PMID:14760488, PMID:14967853, PMID:15176425, PMID:15851227, PMID:15992732, PMID:15996170, PMID:16267253, PMID:16379539, PMID:16611632, PMID:17210839, PMID:17210841, PMID:17587741, PMID:17605181, PMID:18071069, PMID:18426444, PMID:18456723, PMID:19406494, PMID:19716085, PMID:19799913, PMID:19841300, PMID:20129283, PMID:20636320, PMID:21109022, PMID:21167004, PMID:21622575, PMID:22378279, PMID:22581653, PMID:22677073, PMID:22685113, PMID:22995991, PMID:23414114, PMID:23465283, PMID:23571586, PMID:23861362, PMID:23936059, PMID:24033266, PMID:24055113, PMID:24136861, PMID:24317018, PMID:24736382, PMID:25051102, PMID:25348405, PMID:25410959, PMID:25637381, PMID:25741868, PMID:26159999, PMID:26467025, PMID:27153395, PMID:27381756, PMID:27711072, PMID:28087566, PMID:28492532 NCBI chrNW_004955427:25,295,517...25,371,419 JBrowse link
G Sgca sarcoglycan alpha ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12746421, PMID:18285821, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chrNW_004955451:11,490,891...11,501,618 JBrowse link
G Sgcb sarcoglycan beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chrNW_004955447:18,459,562...18,472,367 JBrowse link
G Sgcd sarcoglycan delta severity
treatment
ISO associated with limb-girdle muscular dystrophy
ClinVar Annotator: match by term: Cardiomyopathy
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.Ser151Ala(mouse)
associated with Sgcd knockout
RGD
ClinVar
CTD
PMID:10481911, PMID:19218289, PMID:20675662, PMID:23695275, PMID:24033266, PMID:25281567, PMID:25741868, PMID:26084686, PMID:26467025, PMID:28492532 RGD:13605616, RGD:13605617, RGD:13605618 NCBI chrNW_004955408:10,273,344...10,820,108 JBrowse link
G Slc30a5 solute carrier family 30 member 5 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004955446:158,843...196,275 JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004955448:6,885,153...6,905,641 JBrowse link
G Sod1 superoxide dismutase 1 ISO RGD PMID:15890620 RGD:1581220 NCBI chrNW_004955407:31,261,451...31,267,657 JBrowse link
G Sod2 superoxide dismutase 2 ISO associated with hemochromatosis;DNA:polymorphism: :p.A16V (human)
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:15591282, PMID:15890620, PMID:23536361 RGD:1580836, RGD:1581220 NCBI chrNW_004955439:21,209,101...21,223,538 JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:21340158, PMID:21387466, PMID:22585553, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955441:6,649,895...6,724,271 JBrowse link
G Srf serum response factor ISO RGD PMID:12874181 RGD:1581473 NCBI chrNW_004955437:9,100,546...9,109,305 JBrowse link
G Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:17897828, PMID:24033266, PMID:25351510, PMID:25741868, PMID:26159999, PMID:27066573, PMID:27312022, PMID:27854218, PMID:28492532 NCBI chrNW_004955561:254,876...274,581 JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic RGD
CTD
PMID:10618415, PMID:23619365, PMID:24448315 RGD:7495791 NCBI chrNW_004955451:16,320,326...16,348,505 JBrowse link
G Strip1 striatin interacting protein 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chrNW_004955435:13,560,533...13,578,849 JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chrNW_004955414:22,322,954...22,324,412 JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955580:915,668...921,703 JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:16911908, PMID:18585512, PMID:19035361, PMID:19412328, PMID:20215591, PMID:20474083, PMID:22194935, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24037902, PMID:24503780, PMID:25741868, PMID:26332198, PMID:26350513, PMID:26467025, PMID:27532257, PMID:28492532, PMID:30871747 NCBI chrNW_004955451:14,413,657...14,414,735 JBrowse link
G Tgfb3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:28240702, PMID:28492532 NCBI chrNW_004955438:33,129...55,180 JBrowse link
G Thpo thrombopoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16651473 NCBI chrNW_004955420:23,120,828...23,128,894 JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:heart myocardium, serum RGD PMID:17982970 RGD:2290406 NCBI chrNW_004955506:3,769,113...3,812,896 JBrowse link
G Tlr2 toll like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15505089 NCBI chrNW_004955471:8,011,710...8,019,063 JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18313022, PMID:18414213, PMID:20010364, PMID:20435227, PMID:21214875, PMID:21391237, PMID:21636032, PMID:22458570, PMID:22725725, PMID:23161701, PMID:23178689, PMID:23555315, PMID:23671136, PMID:23810883, PMID:23812740, PMID:23861362, PMID:24033266, PMID:24125834, PMID:24598986, PMID:25214167, PMID:25343256, PMID:25351510, PMID:25676813, PMID:25741868, PMID:25820315, PMID:26467025, PMID:26513349, PMID:26743238, PMID:26840987, PMID:27153395, PMID:27532257, PMID:28301460, PMID:28471438, PMID:28491673, PMID:28492532, PMID:28750076, PMID:29040414, PMID:29247119, PMID:29980933, PMID:30206291, PMID:30700137, PMID:31333075, PMID:31568572 NCBI chrNW_004955429:16,921,469...16,934,978 JBrowse link
G Tmem70 transmembrane protein 70 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18953340 NCBI chrNW_004955444:6,393,023...6,397,115 JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362, PMID:24033266, PMID:28492532 NCBI chrNW_004955405:34,526,420...34,556,740 JBrowse link
G Tnf tumor necrosis factor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:10716473, PMID:24441175 RGD:10450596 NCBI chrNW_004955437:117,267...119,899 JBrowse link
G Tnnc1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:30165862 NCBI chrNW_004955430:2,438,644...2,441,596 JBrowse link
G Tnni3 troponin I3, cardiac type ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy
CTD
ClinVar
PMID:3144325, PMID:7592712, PMID:9241277, PMID:10098965, PMID:10806205, PMID:11735257, PMID:11815426, PMID:12531876, PMID:12707239, PMID:12746413, PMID:12860912, PMID:15070570, PMID:15201162, PMID:15524171, PMID:15607392, PMID:15631686, PMID:15698845, PMID:15774859, PMID:15961398, PMID:15992656, PMID:16020591, PMID:16199542, PMID:16288990, PMID:16335287, PMID:16352453, PMID:16531415, PMID:17010989, PMID:17587482, PMID:17599605, PMID:17872964, PMID:18175163, PMID:18269819, PMID:18403758, PMID:18409188, PMID:18423659, PMID:19035361, PMID:19289050, PMID:19590045, PMID:19645627, PMID:19651143, PMID:20031602, PMID:20350521, PMID:20474083, PMID:20624503, PMID:20641121, PMID:21239446, PMID:21310275, PMID:21511876, PMID:21533915, PMID:21799269, PMID:21839045, PMID:21896538, PMID:21967901, PMID:22301726, PMID:22429680, PMID:22464770, PMID:22765922, PMID:22876777, PMID:22940544, PMID:22958901, PMID:23270746, PMID:23283745, PMID:23540544, PMID:23610579, PMID:23690394, PMID:23967088, PMID:24033266, PMID:24111713, PMID:24113344, PMID:24503780, PMID:24510615, PMID:24704860, PMID:25086479, PMID:25132132, PMID:25228707, PMID:25239116, PMID:25324519, PMID:25342278, PMID:25351510, PMID:25524337, PMID:25741868, PMID:25940119, PMID:26169204, PMID:26440512, PMID:26506446, PMID:26914223, PMID:26936621, PMID:27532257, PMID:27557662, PMID:27600940, PMID:28138913, PMID:28166811, PMID:28193612, PMID:28356264, PMID:28382084, PMID:28436080, PMID:28492532, PMID:28498465, PMID:28771489, PMID:28790153, PMID:29255176, PMID:29661763, PMID:29907873, PMID:30165862, PMID:31333075, PMID:31568572 NCBI chrNW_004955567:1,037,325...1,042,102 JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955567:1,039,625...1,050,581 JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy
CTD
ClinVar
PMID:2946667, PMID:7898523, PMID:8205619, PMID:8951566, PMID:9140840, PMID:9154300, PMID:10085122, PMID:10405326, PMID:10467159, PMID:10497196, PMID:10610467, PMID:10617660, PMID:11034944, PMID:11060291, PMID:11060294, PMID:11106718, PMID:11113119, PMID:11432788, PMID:11560853, PMID:11606294, PMID:11684629, PMID:11773635, PMID:12186860, PMID:12409295, PMID:12707239, PMID:12818575, PMID:12860912, PMID:12881443, PMID:12923187, PMID:12974739, PMID:14563299, PMID:14636924, PMID:14654368, PMID:14722098, PMID:14745153, PMID:15246915, PMID:15358028, PMID:15464434, PMID:15519027, PMID:15542288, PMID:15563892, PMID:15623536, PMID:15631686, PMID:15769782, PMID:15923195, PMID:15958377, PMID:16115869, PMID:16199542, PMID:16715312, PMID:16754800, PMID:16777946, PMID:17101185, PMID:17456375, PMID:17587482, PMID:17932326, PMID:18467357, PMID:18533079, PMID:18651846, PMID:19033660, PMID:19035361, PMID:19150014, PMID:19275886, PMID:19412328, PMID:19645627, PMID:19754353, PMID:19914256, PMID:20031601, PMID:20031602, PMID:20031618, PMID:20038417, PMID:20057144, PMID:20079745, PMID:20215591, PMID:20439259, PMID:20530761, PMID:20624503, PMID:20800588, PMID:20973921, PMID:20978592, PMID:21310275, PMID:21483645, PMID:21511876, PMID:21683708, PMID:21846512, PMID:22017532, PMID:22144547, PMID:22292720, PMID:22321274, PMID:22455086, PMID:22464770, PMID:22500102, PMID:22675533, PMID:22857948, PMID:22958901, PMID:23074333, PMID:23233322, PMID:23283745, PMID:23299917, PMID:23349452, PMID:23383212, PMID:23396983, PMID:23494605, PMID:23539503, PMID:23663841, PMID:23674365, PMID:23711808, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24093860, PMID:24111713, PMID:24367593, PMID:24418317, PMID:24503780, PMID:24721642, PMID:24793961, PMID:24992688, PMID:25086479, PMID:25351510, PMID:25448463, PMID:25524337, PMID:25611685, PMID:25637381, PMID:25668678, PMID:25741868, PMID:25849606, PMID:26084686, PMID:26183555, PMID:26468400, PMID:26507537, PMID:26633542, PMID:26656175, PMID:26656454, PMID:26681313, PMID:26688388, PMID:26743238, PMID:26779504, PMID:26899768, PMID:26914223, PMID:27022107, PMID:27082122, PMID:27153395, PMID:27411801, PMID:27483260, PMID:27493864, PMID:27532257, PMID:27576561, PMID:27600940, PMID:27841901, PMID:27930701, PMID:28193612, PMID:28255936, PMID:28356264, PMID:28408708, PMID:28416588, PMID:28420666, PMID:28492532, PMID:28771489, PMID:28790153, PMID:28798025, PMID:28973083, PMID:28973951, PMID:29121657, PMID:29367539, PMID:29661763, PMID:29773157, PMID:30165862, PMID:30311386 NCBI chrNW_004955406:37,491,462...37,507,360 JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
CTD Direct Evidence: therapeutic
CTD PMID:16013437, PMID:31618665 NCBI chrNW_004955467:9,241,391...9,256,716 JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:07729014, PMID:07898523, PMID:08205619, PMID:08523464, PMID:08774330, PMID:09060904, PMID:9245729, PMID:9400381, PMID:09440709, PMID:09822100, PMID:10400910, PMID:10900175, PMID:11606294, PMID:11968089, PMID:12473556, PMID:14734051, PMID:15000344, PMID:16014439, PMID:16504640, PMID:18403758, PMID:18533079, PMID:19035361, PMID:20159828, PMID:21109227, PMID:21239446, PMID:21295541, PMID:21310275, PMID:21320446, PMID:21376702, PMID:22112859, PMID:22155441, PMID:22187526, PMID:22462493, PMID:22789852, PMID:22794249, PMID:23204897, PMID:23283745, PMID:23674513, PMID:23700264, PMID:23861362, PMID:24033266, PMID:24183960, PMID:24503780, PMID:24793961, PMID:25031304, PMID:25326635, PMID:25524337, PMID:25548289, PMID:25607779, PMID:25611685, PMID:25741868, PMID:26936621, PMID:27177193, PMID:27532257, PMID:27600940, PMID:28138913, PMID:28301460, PMID:28356264, PMID:28359939, PMID:28492532, PMID:29024827, PMID:29121657, PMID:29517769, PMID:29760186, PMID:30165862, PMID:30311386 NCBI chrNW_004955450:12,197,241...12,223,372 JBrowse link
G Trim63 tripartite motif containing 63 ISO CTD Direct Evidence: therapeutic CTD PMID:19168726 NCBI chrNW_004955452:5,517,969...5,531,490 JBrowse link
G Trpm4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:21887725, PMID:23382873, PMID:25467552, PMID:25741868, PMID:26820365, PMID:27207958, PMID:28492532 NCBI chrNW_004955559:1,539,036...1,581,800 JBrowse link
G Tshr thyroid stimulating hormone receptor ISO RGD PMID:8796147 RGD:1580777 NCBI chrNW_004955438:4,601,765...4,758,922 JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar PMID:1745277, PMID:10053013, PMID:10462489, PMID:11310621, PMID:11717165, PMID:12145747, PMID:12669942, PMID:15802564, PMID:16084088, PMID:17344846, PMID:17444505, PMID:18414213, PMID:18948003, PMID:19608031, PMID:20890277, PMID:21617319, PMID:21810661, PMID:22335739, PMID:22475360, PMID:22577215, PMID:22577218, PMID:22577220, PMID:23033978, PMID:23299917, PMID:23396983, PMID:23418287, PMID:23478172, PMID:23486992, PMID:23514108, PMID:23518707, PMID:23606733, PMID:23620651, PMID:23675308, PMID:23852418, PMID:23861362, PMID:23975875, PMID:23995273, PMID:24033266, PMID:24055113, PMID:24082139, PMID:24105469, PMID:24119082, PMID:24271327, PMID:24315344, PMID:24384345, PMID:24395473, PMID:24444549, PMID:24459294, PMID:24503780, PMID:24558114, PMID:24575448, PMID:24636144, PMID:24892279, PMID:24980681, PMID:25016126, PMID:25145518, PMID:25163546, PMID:25214167, PMID:25253871, PMID:25498755, PMID:25500009, PMID:25500949, PMID:25556389, PMID:25589632, PMID:25626705, PMID:25741868, PMID:25889363, PMID:25979592, PMID:26269091, PMID:26383259, PMID:26467025, PMID:26498160, PMID:26516846, PMID:26518445, PMID:26567375, PMID:26701604, PMID:26735901, PMID:26777568, PMID:27066507, PMID:27194543, PMID:27273923, PMID:27532257, PMID:27588451, PMID:27788187, PMID:27843123, PMID:27854229, PMID:27868399, PMID:27930701, PMID:28045975, PMID:28166282, PMID:28416588, PMID:28492532, PMID:28578331, PMID:28600387, PMID:28704380, PMID:28750076, PMID:28771489, PMID:28822653, PMID:28857138, PMID:29099038, PMID:29221435, PMID:29485843, PMID:29970176, PMID:30311386, PMID:30536954 NCBI chrNW_004955403:18,057,344...18,328,389 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:192115, PMID:1351039, PMID:1353008, PMID:1355416, PMID:1356051, PMID:1358785, PMID:1490495, PMID:1547960, PMID:1570831, PMID:1626556, PMID:1664269, PMID:1729893, PMID:1850190, PMID:1867256, PMID:1877623, PMID:1977686, PMID:1992765, PMID:1997217, PMID:2002274, PMID:2063870, PMID:2122246, PMID:2174830, PMID:2237288, PMID:2320592, PMID:2349941, PMID:2564060, PMID:2590199, PMID:2624269, PMID:2646319, PMID:2714785, PMID:2840822, PMID:2856994, PMID:2857043, PMID:2896079, PMID:2981253, PMID:3011930, PMID:3022107, PMID:3022108, PMID:3022697, PMID:3030336, PMID:3097057, PMID:3229002, PMID:3457802, PMID:3479441, PMID:3627183, PMID:3676699, PMID:3722385, PMID:3908483, PMID:3934968, PMID:4079954, PMID:4138132, PMID:4354899, PMID:5507249, PMID:5652991, PMID:5799493, PMID:6087811, PMID:6100724, PMID:6208668, PMID:6311926, PMID:6549130, PMID:6583672, PMID:6651852, PMID:6736244, PMID:6782125, PMID:7389759, PMID:7599630, PMID:7608709, PMID:7655883, PMID:7656439, PMID:7839813, PMID:7868124, PMID:7906282, PMID:7923855, PMID:8064809, PMID:8100581, PMID:8102146, PMID:8194279, PMID:8563114, PMID:8698351, PMID:8778271, PMID:8857732, PMID:9017939, PMID:9090525, PMID:9215058, PMID:9395311, PMID:9428731, PMID:9475090, PMID:9818054, PMID:10453736, PMID:10465115, PMID:10506096, PMID:10529370, PMID:10762172, PMID:10772944, PMID:10842715, PMID:11385707, PMID:11577236, PMID:11709003, PMID:11752419, PMID:11752443, PMID:11940682, PMID:12000195, PMID:12050338, PMID:12217248, PMID:12433265, PMID:12440486, PMID:12566023, PMID:12588803, PMID:12617705, PMID:12874413, PMID:12874414, PMID:14569203, PMID:14640030, PMID:14673473, PMID:14724437, PMID:14968122, PMID:14986482, PMID:15123043, PMID:15185492, PMID:15217993, PMID:15249622, PMID:15299606, PMID:15523922, PMID:15735344, PMID:15820680, PMID:15930086, PMID:16011990, PMID:16194874, PMID:16194875, PMID:16362527, PMID:16432141, PMID:16631014, PMID:16631015, PMID:16911959, PMID:17251346, PMID:17431395, PMID:17431450, PMID:17503405, PMID:17698792, PMID:17968687, PMID:18276611, PMID:18295603, PMID:18318779, PMID:18460047, PMID:18606975, PMID:18830126, PMID:18863976, PMID:18925456, PMID:18984591, PMID:19118530, PMID:19364362, PMID:19428025, PMID:19602727, PMID:19709674, PMID:19781421, PMID:19808383, PMID:20209591, PMID:20301373, PMID:20435197, PMID:20660862, PMID:20840742, PMID:21557933, PMID:21600538, PMID:21992998, PMID:22083004, PMID:22184092, PMID:22332999, PMID:22382560, PMID:22449240, PMID:22531659, PMID:22620962, PMID:22745357, PMID:22877808, PMID:22995991, PMID:23080516, PMID:23387326, PMID:23414091, PMID:23580146, PMID:23713495, PMID:23716704, PMID:23833285, PMID:23993291, PMID:24033266, PMID:24046394, PMID:24073013, PMID:24101373, PMID:24111657, PMID:24164154, PMID:24184229, PMID:24455802, PMID:24474780, PMID:24503780, PMID:24517438, PMID:24555660, PMID:24601850, PMID:24633258, PMID:24800914, PMID:24818650, PMID:24945718, PMID:24955979, PMID:25225131, PMID:25311081, PMID:25395306, PMID:25550818, PMID:25551524, PMID:25741868, PMID:25743335, PMID:25819286, PMID:25846356, PMID:25997029, PMID:26017327, PMID:26115788, PMID:26123279, PMID:26428663, PMID:26467025, PMID:26537620, PMID:27249223, PMID:27562180, PMID:27793437, PMID:27885756, PMID:28492532, PMID:29121657, PMID:31371117 NCBI chrNW_004955402:18,921,235...18,927,976 JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955442:18,150,060...18,205,775 JBrowse link
G Uts2 urotensin 2 ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium RGD PMID:12791592, PMID:18280445 RGD:1580809, RGD:2306796 NCBI chrNW_004955486:5,052,045...5,056,610 JBrowse link
G Uts2r urotensin 2 receptor ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium RGD PMID:18280445 RGD:2306796 NCBI chrNW_004955506:756,859...761,891 JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955435:18,890,995...18,933,258 JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:15331426, PMID:15769782, PMID:16236538, PMID:17785437, PMID:22421524, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25351510, PMID:25741868, PMID:26191084, PMID:26458567, PMID:26656175, PMID:27532257, PMID:27930701, PMID:28492532 NCBI chrNW_004955437:17,812,998...17,920,253 JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:10229225 RGD:1580578 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chrNW_004955417:14,570,399...15,228,106 JBrowse link
G Ywhah tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta ISO CTD Direct Evidence: therapeutic CTD PMID:18342293 NCBI chrNW_004955455:6,045,919...6,057,729 JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO OMIM NCBI chrNW_004955420:9,974,466...9,978,789 JBrowse link
acute myocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO RGD PMID:9495297 RGD:13702889 NCBI chrNW_004955445:11,191,817...11,202,156 JBrowse link
alcoholic cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:22497828 NCBI chrNW_004955492:7,863,662...7,874,863 JBrowse link
G Nos1 nitric oxide synthase 1 ISO protein:decreased expression:skeletal muscle, membrane RGD PMID:17607508 RGD:1642138 NCBI chrNW_004955455:13,797,557...13,978,402 JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO protein:increased expression:heart myocardium RGD PMID:18783396 RGD:2301868 NCBI chrNW_004955429:14,814,690...14,936,869 JBrowse link
G Rxra retinoid X receptor alpha ISO RGD PMID:19791468 RGD:2317465 NCBI chrNW_004955513:3,313,544...3,386,544 JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO mRNA, protein:decreased expression:myocardium RGD PMID:21169901 RGD:9681464 NCBI chrNW_004955403:23,878,329...23,882,322 JBrowse link
Andersen-Tawil syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly rectifying channel subfamily J member 2 ISO OMIM NCBI chrNW_004955478:2,734,795...2,745,217 JBrowse link
G Kcnj5 potassium inwardly rectifying channel subfamily J member 5 ISO ClinVar Annotator: match by term: Andersen Tawil syndrome
ClinVar Annotator: match by term: Andersen Syndrome
ClinVar PMID:20560207, PMID:21311022, PMID:22203740, PMID:24574546, PMID:25741868, PMID:28492532 NCBI chrNW_004955412:29,850,097...29,874,213 JBrowse link
arrhythmogenic right ventricular cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:20890277, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532 NCBI chrNW_004955413:17,385,966...17,510,220 JBrowse link
G Actn2 actinin alpha 2 ISO DNA:polymorphism: :
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
RGD
ClinVar
PMID:11078270, PMID:25741868 RGD:13506947 NCBI chrNW_004955492:3,483,704...3,554,831 JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chrNW_004955432:8,933,037...9,090,872 JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chrNW_004955457:13,624,590...13,938,427 JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, arrhythmogenic right ventricular dysplasia ClinVar PMID:21898660, PMID:23861362, PMID:25741868, PMID:28492532, PMID:29382405 NCBI chrNW_004955551:446,322...468,329 JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362, PMID:25447171, PMID:25661095, PMID:25741868, PMID:28492532 NCBI chrNW_004955454:4,573,647...5,199,046 JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004955429:9,642,725...9,966,175 JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:17655857, PMID:23861362, PMID:28492532 NCBI chrNW_004955524:1,245,607...1,256,528 JBrowse link
G Cdh2 cadherin 2 ISO DNA:missense mutations:cds:c.686A>C(p.Q229P), c.1219G>A (p.D407N)(human)
DNA:mutation:cds:c.1219G>A(p.D407N)(human)
RGD PMID:28280076, PMID:28326674 RGD:13524622, RGD:13524623 NCBI chrNW_004955402:15,829,895...16,049,874 JBrowse link
G Des desmin ISO DNA:mutation:cds:c.1203G>C (p.E401D)(human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
RGD
ClinVar
PMID:24033266, PMID:25179549, PMID:25741868, PMID:28492532, PMID:29212896 RGD:13525009 NCBI chrNW_004955453:14,039,502...14,046,572 JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955535:1,283,084...3,297,015 JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar PMID:7971964, PMID:17033975, PMID:17186466, PMID:17963498, PMID:18382419, PMID:18678517, PMID:18957847, PMID:19863551, PMID:20031616, PMID:20031617, PMID:20197793, PMID:20400443, PMID:20716751, PMID:20829228, PMID:20857253, PMID:21062920, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21859740, PMID:23147450, PMID:23299917, PMID:23396983, PMID:23514727, PMID:23757202, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24503780, PMID:24704780, PMID:24967631, PMID:25163546, PMID:25351510, PMID:25447171, PMID:25569433, PMID:25637381, PMID:25741868, PMID:26138720, PMID:26656175, PMID:26743238, PMID:27153395, PMID:28255936, PMID:28471438, PMID:28492532, PMID:28798025, PMID:29367541, PMID:29802319, PMID:30311386, PMID:31333075, PMID:31568572 NCBI chrNW_004955402:18,465,631...18,496,948 JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:2040044, PMID:16025435, PMID:16505173, PMID:16773573, PMID:16774985, PMID:17105751, PMID:17372169, PMID:18382419, PMID:18632414, PMID:18678517, PMID:18813333, PMID:19039334, PMID:19151369, PMID:19569224, PMID:19863551, PMID:20031616, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20197793, PMID:20400443, PMID:20603720, PMID:20708101, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21859740, PMID:22000064, PMID:22214898, PMID:23071725, PMID:23299917, PMID:23381804, PMID:23514727, PMID:23671136, PMID:23810883, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23871674, PMID:23871885, PMID:23889974, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24082139, PMID:24238504, PMID:24436435, PMID:24503780, PMID:24704780, PMID:25087486, PMID:25172079, PMID:25213555, PMID:25332820, PMID:25445213, PMID:25525159, PMID:25637381, PMID:25741868, PMID:25765472, PMID:25820315, PMID:26138720, PMID:26230511, PMID:26899768, PMID:27194543, PMID:27532257, PMID:27930701, PMID:28255936, PMID:28283360, PMID:28341588, PMID:28471438, PMID:28492532, PMID:28578331, PMID:28818065, PMID:29062102, PMID:29178656, PMID:30311386, PMID:30454721, PMID:30790397, PMID:31333075, PMID:31568572 NCBI chrNW_004955402:18,826,400...18,876,188 JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
RGD
ClinVar
PMID:10395892, PMID:10594734, PMID:11063735, PMID:12875771, PMID:15941723, PMID:16628197, PMID:16774985, PMID:16917092, PMID:18382419, PMID:18632414, PMID:19095136, PMID:19279339, PMID:19358943, PMID:19558499, PMID:19863551, PMID:19924139, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20400443, PMID:20716751, PMID:20864495, PMID:21062920, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21756917, PMID:21859740, PMID:22555271, PMID:22949226, PMID:23137101, PMID:23292937, PMID:23299917, PMID:23381804, PMID:23514727, PMID:23810894, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24503780, PMID:24704780, PMID:25225338, PMID:25227139, PMID:25351510, PMID:25525159, PMID:25569433, PMID:25616645, PMID:25637381, PMID:25661095, PMID:25693453, PMID:25741868, PMID:26230511, PMID:26332594, PMID:26498160, PMID:26569459, PMID:26585738, PMID:26656175, PMID:26850880, PMID:26899768, PMID:27097650, PMID:27153395, PMID:27435932, PMID:27532257, PMID:27831900, PMID:28074886, PMID:28087426, PMID:28254189, PMID:28416588, PMID:28473349, PMID:28492532, PMID:28527814, PMID:28588093, PMID:28759816, PMID:28798025, PMID:29062697, PMID:29253866, PMID:29892087, PMID:30311386 RGD:1580890 NCBI chrNW_004955465:6,356,970...6,391,206 JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chrNW_004955470:10,240,117...10,286,117 JBrowse link
G Gja1 gap junction protein alpha 1 ISO protein:decreased expression:buccal mucosa
protein:altered expression:ventricle
RGD PMID:23178689, PMID:26850880 RGD:11352402, RGD:13592599 NCBI chrNW_004955436:3,612,533...3,618,095 JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chrNW_004955450:4,139,852...4,181,377 JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar NCBI chrNW_004955438:58,503...144,675 JBrowse link
G Il6r interleukin 6 receptor ISO protein:increased expression:serum RGD PMID:21859801 RGD:10402826 NCBI chrNW_004955545:932,814...979,359 JBrowse link
G Jup junction plakoglobin ISO protein:altered expression:ventricle
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
RGD
ClinVar
PMID:23178689, PMID:24033266, PMID:24884844, PMID:25741868, PMID:28098346, PMID:28492532 RGD:11352402 NCBI chrNW_004955451:15,993,055...16,004,152 JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:9328483, PMID:9354783, PMID:9354802, PMID:9445165, PMID:10400998, PMID:10428953, PMID:10973849, PMID:11320260, PMID:11874988, PMID:12566567, PMID:15840476, PMID:16818210, PMID:19008479, PMID:19340287, PMID:19521339, PMID:19716085, PMID:22166941, PMID:22581653, PMID:23124029, PMID:23510998, PMID:23631430, PMID:24033266, PMID:24400172, PMID:24561134, PMID:24606995, PMID:25637381, PMID:25741868, PMID:26187847, PMID:28176637, PMID:28492532 NCBI chrNW_004955407:33,807,581...33,814,356 JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:15176425, PMID:16244680, PMID:22402334, PMID:22581653, PMID:25741868, PMID:28492532 NCBI chrNW_004955491:5,391,444...5,422,241 JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chrNW_004955526:4,330,388...4,465,810 JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:23861362, PMID:24033266, PMID:25741868 NCBI chrNW_004955510:5,738,254...5,793,643 JBrowse link
G Lmna lamin A/C ISO DNA:duplication:cds:c.418_438dup (human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
RGD
ClinVar
PMID:22224630, PMID:22266370, PMID:22464770, PMID:23183350, PMID:23853504, PMID:24033266, PMID:24503780, PMID:24846508, PMID:25741868, PMID:25837155, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27884249, PMID:28492532, PMID:29149195, PMID:29237675, PMID:30165862, PMID:30311386, PMID:30402260, PMID:30765282 RGD:11056513 NCBI chrNW_004955545:2,290,076...2,310,982 JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:23861362, PMID:25741868, PMID:28492532, PMID:28611029 NCBI chrNW_004955482:7,708,436...7,713,877 JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chrNW_004955402:7,293,415...7,418,226 JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955425:20,461,654...20,545,626 JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
RGD
ClinVar
PMID:189621, PMID:2412583, PMID:15489853, PMID:16101641, PMID:16415378, PMID:16549640, PMID:16567567, PMID:16774985, PMID:16893920, PMID:17010805, PMID:17372169, PMID:17521752, PMID:17556197, PMID:18382419, PMID:18554203, PMID:18662195, PMID:19084810, PMID:19095136, PMID:19279339, PMID:19302745, PMID:19358943, PMID:19427443, PMID:19533476, PMID:19569224, PMID:19863551, PMID:19880068, PMID:19955750, PMID:20031616, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20197793, PMID:20400443, PMID:20525856, PMID:20646679, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:21062920, PMID:21301620, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21822014, PMID:21859740, PMID:22019812, PMID:22035158, PMID:22036071, PMID:22177269, PMID:22214898, PMID:22781308, PMID:23137101, PMID:23178689, PMID:23270881, PMID:23299917, PMID:23347029, PMID:23514727, PMID:23671136, PMID:23810883, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23871674, PMID:23871885, PMID:23889974, PMID:23911551, PMID:23973953, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24200904, PMID:24200905, PMID:24352520, PMID:24503780, PMID:24558114, PMID:24585727, PMID:24704780, PMID:24784157, PMID:24832006, PMID:24967631, PMID:25087486, PMID:25163546, PMID:25332820, PMID:25351510, PMID:25445213, PMID:25447171, PMID:25525159, PMID:25616645, PMID:25637381, PMID:25676813, PMID:25741868, PMID:25741869, PMID:25765472, PMID:25820315, PMID:25825243, PMID:25857910, PMID:25979592, PMID:26264440, PMID:26332594, PMID:26406308, PMID:26498160, PMID:26656175, PMID:26676851, PMID:26743238, PMID:26850880, PMID:27153395, PMID:27194543, PMID:27335691, PMID:27532257, PMID:27727376, PMID:28177452, PMID:28253841, PMID:28255936, PMID:28301460, PMID:28341588, PMID:28431057, PMID:28471438, PMID:28492532, PMID:28518168, PMID:28588093, PMID:28611399, PMID:28705875, PMID:28807990, PMID:29099038, PMID:29128982, PMID:29178656, PMID:29288195, PMID:29582136, PMID:29802319, PMID:29940860, PMID:29997227, PMID:30311386, PMID:30354609, PMID:30445427, PMID:30562116, PMID:30615648, PMID:30656044, PMID:30677492, PMID:30764827, PMID:30765282, PMID:30790397, PMID:31333075, PMID:31539150, PMID:31568572, PMID:31638835 RGD:1580872, RGD:1580873 NCBI chrNW_004955505:2,878,001...2,959,299 JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004955482:8,934,734...9,031,230 JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:23396983, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26498160, PMID:26656175, PMID:27296017, PMID:28492532, PMID:30775854 NCBI chrNW_004955485:590,094...769,604 JBrowse link
G Ryr2 ryanodine receptor 2 susceptibility ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
RGD
ClinVar
PMID:8589694, PMID:11159936, PMID:12093772, PMID:16769042, PMID:18326664, PMID:19709828, PMID:19926015, PMID:21315846, PMID:22677073, PMID:23757202, PMID:23861362, PMID:24025405, PMID:24033266, PMID:24447446, PMID:24558114, PMID:24981977, PMID:25351510, PMID:25467552, PMID:25637381, PMID:25741868, PMID:25925909, PMID:26112015, PMID:26189708, PMID:27650965, PMID:28087566, PMID:28404607, PMID:28492532 RGD:1578810, RGD:1599243 NCBI chrNW_004955492:2,647,597...3,275,512 JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO protein:altered expression:ventricle
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
RGD
ClinVar
PMID:10973849, PMID:12354768, PMID:12820704, PMID:14523039, PMID:15466642, PMID:15840476, PMID:15840483, PMID:15851227, PMID:16325048, PMID:16414944, PMID:16540748, PMID:17161064, PMID:17210839, PMID:18071069, PMID:18361072, PMID:18452873, PMID:19412328, PMID:19841300, PMID:20129283, PMID:20403459, PMID:20539757, PMID:20875080, PMID:22373669, PMID:22378279, PMID:22581653, PMID:23008441, PMID:23098067, PMID:23178689, PMID:23503384, PMID:23631430, PMID:23805106, PMID:23861362, PMID:24033266, PMID:24653702, PMID:25163546, PMID:25351510, PMID:25741868, PMID:25829473, PMID:25904541, PMID:26066609, PMID:26159999, PMID:26209461, PMID:26467025, PMID:26633542, PMID:26749013, PMID:27041150, PMID:27287068, PMID:28069705, PMID:28265756, PMID:28492532, PMID:28781330, PMID:29032884, PMID:29574140, PMID:30084490, PMID:31333075, PMID:31568572 RGD:11352402 NCBI chrNW_004955427:25,295,517...25,371,419 JBrowse link
G Sgca sarcoglycan alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955451:11,490,891...11,501,618 JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:17143282, PMID:17143285, PMID:17586837, PMID:20981092, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955441:6,649,895...6,724,271 JBrowse link
G Tgfb3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
RGD
ClinVar
PMID:7951245, PMID:23861362, PMID:25637381, PMID:25741868, PMID:28492532 RGD:1578811 NCBI chrNW_004955438:33,129...55,180 JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
RGD
ClinVar
PMID:10631146, PMID:18313022, PMID:18414213, PMID:19434073, PMID:20010364, PMID:21047201, PMID:21214875, PMID:22458570, PMID:22725725, PMID:22992668, PMID:23400628, PMID:23671136, PMID:23810883, PMID:23812740, PMID:23861362, PMID:24033266, PMID:24125834, PMID:24598986, PMID:25343256, PMID:25741868, PMID:26467025, PMID:26513349, PMID:27153395, PMID:28448657, PMID:28471438, PMID:28491673, PMID:28492532, PMID:29040414, PMID:29980933, PMID:30700137 RGD:1579676 NCBI chrNW_004955429:16,921,469...16,934,978 JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:23861362, PMID:24033266, PMID:24375709, PMID:25741868, PMID:28074886, PMID:28492532, PMID:30327538 NCBI chrNW_004955405:34,526,420...34,556,740 JBrowse link
G Trpm4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:21887725, PMID:25741868, PMID:26820365, PMID:28492532, PMID:30391667 NCBI chrNW_004955559:1,539,036...1,581,800 JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:18414213, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25016126, PMID:25589632, PMID:25741868, PMID:26467025, PMID:26498160, PMID:28492532, PMID:28750076, PMID:28857138, PMID:30311386 NCBI chrNW_004955403:18,057,344...18,328,389 JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:18414213, PMID:19434073, PMID:21047201, PMID:22992668, PMID:23400628, PMID:25741868, PMID:28448657 NCBI chrNW_004955429:16,935,901...16,968,285 JBrowse link
arrhythmogenic right ventricular dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:17105751, PMID:18382419, PMID:18678517, PMID:19039334, PMID:19569224, PMID:20031616, PMID:20603720, PMID:20857253, PMID:21397041, PMID:21606390, PMID:21606396, PMID:23299917, PMID:23671136, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24082139, PMID:24704780, PMID:25332820, PMID:25445213, PMID:25637381, PMID:25741868, PMID:26230511, PMID:28492532 NCBI chrNW_004955402:18,826,400...18,876,188 JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chrNW_004955454:2,583,138...2,644,308 JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25637381 NCBI chrNW_004955492:2,647,597...3,275,512 JBrowse link
G Tgfb3 transforming growth factor beta 3 ISO OMIM NCBI chrNW_004955438:33,129...55,180 JBrowse link
arrhythmogenic right ventricular dysplasia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg2 desmoglein 2 ISO OMIM NCBI chrNW_004955402:18,826,400...18,876,188 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 ClinVar PMID:28492532 NCBI chrNW_004955402:18,921,235...18,927,976 JBrowse link
arrhythmogenic right ventricular dysplasia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc2 desmocollin 2 ISO OMIM NCBI chrNW_004955402:18,465,631...18,496,948 JBrowse link
arrhythmogenic right ventricular dysplasia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jup junction plakoglobin ISO OMIM NCBI chrNW_004955451:15,993,055...16,004,152 JBrowse link
arrhythmogenic right ventricular dysplasia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna3 catenin alpha 3 ISO OMIM NCBI chrNW_004955425:18,623,645...20,126,200 JBrowse link
G Lrrtm3 leucine rich repeat transmembrane neuronal 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 13 ClinVar NCBI chrNW_004955425:19,480,944...19,657,178 JBrowse link
Arrhythmogenic Right Ventricular Dysplasia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh2 cadherin 2 ISO OMIM NCBI chrNW_004955402:15,829,895...16,049,874 JBrowse link
arrhythmogenic right ventricular dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr2 ryanodine receptor 2 ISO OMIM NCBI chrNW_004955492:2,647,597...3,275,512 JBrowse link
arrhythmogenic right ventricular dysplasia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO OMIM NCBI chrNW_004955429:16,921,469...16,934,978 JBrowse link
arrhythmogenic right ventricular dysplasia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO OMIM NCBI chrNW_004955465:6,356,970...6,391,206 JBrowse link
arrhythmogenic right ventricular dysplasia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Des desmin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chrNW_004955453:14,039,502...14,046,572 JBrowse link
G Dnm1l dynamin 1 like ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507, PMID:28492532 NCBI chrNW_004955505:3,025,742...3,081,491 JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar NCBI chrNW_004955402:18,465,631...18,496,948 JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868, PMID:25820315, PMID:28492532 NCBI chrNW_004955465:6,356,970...6,391,206 JBrowse link
G Fgd4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507, PMID:28492532 NCBI chrNW_004955505:3,108,131...3,314,040 JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chrNW_004955545:2,290,076...2,310,982 JBrowse link
G Pkp2 plakophilin 2 ISO OMIM NCBI chrNW_004955505:2,878,001...2,959,299 JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar PMID:14519435, PMID:24033266, PMID:24503780, PMID:25741868, PMID:27532257, PMID:28492532 NCBI chrNW_004955491:5,852,534...6,048,820 JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chrNW_004955492:2,647,597...3,275,512 JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26567375, PMID:28492532 NCBI chrNW_004955403:18,057,344...18,328,389 JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507, PMID:28492532 NCBI chrNW_004955505:3,004,084...3,011,003 JBrowse link
atrial standstill 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja5 gap junction protein alpha 5 ISO OMIM NCBI chrNW_004955568:635,319...652,692 JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955486:2,061,196...2,062,805 JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Atrial standstill 1, digenic ClinVar PMID:3953067, PMID:12522116, PMID:15466643, PMID:15998690, PMID:16188595, PMID:16684018, PMID:19251209, PMID:19716085, PMID:20129283, PMID:20384651, PMID:20539757, PMID:21596231, PMID:21824921, PMID:22247482, PMID:22581653, PMID:23791817, PMID:24136861, PMID:24573164, PMID:24762805, PMID:25741868, PMID:25904541, PMID:26111534, PMID:28492532 NCBI chrNW_004955427:25,295,517...25,371,419 JBrowse link
atrial standstill 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nppa natriuretic peptide A ISO OMIM NCBI chrNW_004955486:2,061,196...2,062,805 JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO OMIM NCBI chrNW_004955502:4,219,067...4,356,988 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle RGD PMID:15833425 RGD:11073211 NCBI chrNW_004955532:1,446,553...1,465,310 JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chrNW_004955497:3,701,515...3,752,627 JBrowse link
G Sgca sarcoglycan alpha treatment ISO OMIM
RGD
PMID:17653106 RGD:13605612 NCBI chrNW_004955451:11,490,891...11,501,618 JBrowse link
G Sgcg sarcoglycan gamma ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chrNW_004955497:3,592,041...3,702,780 JBrowse link
Cardiac Conduction Disease with or without Dilated Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO DNA:missense mutations:cds:multiple (human) RGD PMID:10580070 RGD:11066902 NCBI chrNW_004955545:2,290,076...2,310,982 JBrowse link
G Lrrc53 leucine rich repeat containing 53 ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy ClinVar PMID:25741868, PMID:30010057 NCBI chrNW_004955423:18,141,159...18,204,497 JBrowse link
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO OMIM NCBI chrNW_004955465:6,356,970...6,391,206 JBrowse link
catecholaminergic polymorphic ventricular tachycardia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:16253912, PMID:22581653, PMID:28492532 NCBI chrNW_004955457:13,624,590...13,938,427 JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar PMID:23040497, PMID:23388215, PMID:24563457, PMID:24816216, PMID:25557436, PMID:25741868, PMID:26164367, PMID:26309258, PMID:27165696, PMID:28492532 NCBI chrNW_004955438:12,842,437...12,854,028 JBrowse link
G Casq2 calsequestrin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
CTD
ClinVar
PMID:19398665, PMID:21618644, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955435:18,941,975...18,996,027 JBrowse link
G Dmpk DM1 protein kinase ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chrNW_004955574:225,615...237,526 JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:17105751, PMID:18678517, PMID:19039334, PMID:20031616, PMID:20031617, PMID:20716751, PMID:20864495, PMID:21606390, PMID:23810883, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25741868, PMID:28492532 NCBI chrNW_004955402:18,826,400...18,876,188 JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:28492532 NCBI chrNW_004955465:6,356,970...6,391,206 JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chrNW_004955491:5,391,444...5,422,241 JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chrNW_004955526:4,330,388...4,465,810 JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:12376891, PMID:12467752, PMID:14597414, PMID:15372542, PMID:17107595, PMID:19524666, PMID:23861362, PMID:23977161, PMID:24033266, PMID:24623722, PMID:24794538, PMID:25448463, PMID:25741868, PMID:28492532, PMID:28531892 NCBI chrNW_004955545:2,290,076...2,310,982 JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955422:888,529...902,074 JBrowse link
G Ryr2 ryanodine receptor 2 ISO OMIM NCBI chrNW_004955492:2,647,597...3,275,512 JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:15840476, PMID:19841300, PMID:20129283, PMID:22581653, PMID:23805106, PMID:24033266, PMID:25351510, PMID:25741868, PMID:25904541, PMID:28492532 NCBI chrNW_004955427:25,295,517...25,371,419 JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955450:12,197,241...12,223,372 JBrowse link
G Trdn triadin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955436:4,963,945...5,266,727 JBrowse link
G Trpm4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chrNW_004955559:1,539,036...1,581,800 JBrowse link
Chagas Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 treatment ISO RGD PMID:24055715 RGD:7364866 NCBI chrNW_004955406:42,307,789...42,312,255 JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO RGD PMID:26745156 RGD:11076757 NCBI chrNW_004955425:7,704,371...7,708,951 JBrowse link
G Pcna proliferating cell nuclear antigen ISO protein:increased expression:myocardium: RGD PMID:12435130 RGD:10448990 NCBI chrNW_004955415:15,744,601...15,748,910 JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma disease_progression ISO mRNA:increased expression:heart (mouse)
mRNA:increased expression:heart (human)
RGD PMID:29666415 RGD:38599151 NCBI chrNW_004955410:11,402,476...11,433,335 JBrowse link
Danon disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chrNW_004955534:120,603...137,227 JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chrNW_004955572:1,507,290...1,524,359 JBrowse link
G Lamp2 lysosomal associated membrane protein 2 ISO OMIM NCBI chrNW_004955572:1,423,048...1,464,443 JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chrNW_004955534:152,291...154,183 JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chrNW_004955534:106,122...119,508 JBrowse link
G Rhoxf1 Rhox homeobox family member 1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chrNW_004955534:39,060...39,570 JBrowse link
G Rnf113a ring finger protein 113A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chrNW_004955534:154,242...155,474 JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chrNW_004955572:1,574,785...1,628,770 JBrowse link
G Upf3b UPF3B regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chrNW_004955534:176,553...193,033 JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chrNW_004955572:1,628,263...1,636,299 JBrowse link
Diabetic Cardiomyopathies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace2 angiotensin I converting enzyme 2 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:22595130 RGD:9685456 NCBI chrNW_004955519:2,591,229...2,643,705 JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum RGD PMID:24669271 RGD:8695938 NCBI chrNW_004955420:20,911,181...20,922,992 JBrowse link
G Adipor1 adiponectin receptor 1 ISO associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum RGD PMID:24669271 RGD:8695938 NCBI chrNW_004955406:38,939,167...38,955,647 JBrowse link
G Ager advanced glycosylation end-product specific receptor treatment ISO associated with Diabetes Mellitus, Experimental;
associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:heart (rat)
RGD PMID:23251674 RGD:7244283 NCBI chrNW_004955437:645,482...648,607 JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:29353218 NCBI chrNW_004955492:7,863,662...7,874,863 JBrowse link
G Agtr2 angiotensin II receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15587404, PMID:16025228 NCBI chrNW_004955534:3,653,112...3,654,248 JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: therapeutic CTD PMID:18332268 NCBI chrNW_004955412:18,170,331...18,172,298 JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Experimental
CTD
RGD
PMID:16685413, PMID:21441944 RGD:6771209 NCBI chrNW_004955482:7,233,336...7,295,754 JBrowse link
G Atp7a ATPase copper transporting alpha treatment ISO RGD PMID:24927960 RGD:11341676 NCBI chrNW_004955557:1,355,471...1,515,725 JBrowse link
G Bad BCL2 associated agonist of cell death treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:21296063 RGD:10053697 NCBI chrNW_004955422:20,795,585...20,809,039 JBrowse link
G Bcl2 BCL2 apoptosis regulator treatment ISO associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Experimental;protein:increased phosphorylation:myocardium (mouse)
RGD PMID:21296063, PMID:21474815 RGD:10053697, RGD:11522727 NCBI chrNW_004955402:46,911,125...47,084,214 JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:28992627 RGD:13782299 NCBI chrNW_004955403:24,315,712...24,326,271 JBrowse link
G Casp8 caspase 8 treatment ISO RGD PMID:28992627 RGD:13782299 NCBI chrNW_004955403:322,082...348,591 JBrowse link
G Casp9 caspase 9 treatment ISO RGD PMID:28992627 RGD:13782299 NCBI chrNW_004955527:2,613,691...2,630,217 JBrowse link
G Casq2 calsequestrin 2 ISO associated with Diabetes Mellitus, Experimental RGD PMID:21441944 RGD:6771209 NCBI chrNW_004955435:18,941,975...18,996,027 JBrowse link
G Casr calcium sensing receptor ISO protein:decreased expression:myocardium (rat) RGD PMID:22137362 RGD:7205677 NCBI chrNW_004955427:21,486,608...21,574,017 JBrowse link
G Cfl1 cofilin 1 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:27576917 RGD:11568692 NCBI chrNW_004955422:19,479,181...19,482,571 JBrowse link
G Ctnnb1 catenin beta 1 ISO mRNA,protein:increased expression:heart RGD PMID:25586361 RGD:13524855 NCBI chrNW_004955420:29,030,716...29,047,447 JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium RGD PMID:22285193 RGD:10449013 NCBI chrNW_004955451:14,442,816...14,456,009 JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium RGD PMID:22285193 RGD:10449013 NCBI chrNW_004955457:3,177,905...4,236,152 JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:23453443, PMID:23853776 RGD:10412713, RGD:9586347 NCBI chrNW_004955405:43,124,447...43,128,873 JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11375343 NCBI chrNW_004955405:37,505,830...37,582,152 JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:23843977 RGD:7247697 NCBI chrNW_004955406:42,307,789...42,312,255 JBrowse link
G Ins insulin ISO CTD Direct Evidence: therapeutic CTD PMID:20828608 NCBI chrNW_004955422:13,909,408...13,910,419 JBrowse link
G Klk1 kallikrein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16129698 NCBI chrNW_004955559:457,030...461,086 JBrowse link
G LOC102021956 alpha-2-macroglobulin treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:21742475 RGD:10046044 NCBI chrNW_004955413:6,019,457...6,062,366 JBrowse link
G Mapk1 mitogen-activated protein kinase 1 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:25907942 RGD:13800893 NCBI chrNW_004955442:17,284,232...17,380,026 JBrowse link
G Mapk3 mitogen-activated protein kinase 3 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:25907942 RGD:13800893 NCBI chrNW_004955493:6,870,699...6,876,836 JBrowse link
G Mylk2 myosin light chain kinase 2 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:9005973 RGD:1580244 NCBI chrNW_004955422:29,141,699...29,154,927 JBrowse link
G Nfe2l2 nuclear factor, erythroid 2 like 2 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:23353773, PMID:23453443 RGD:10412713, RGD:10412721 NCBI chrNW_004955403:19,510,122...19,536,428 JBrowse link
G Nos3 nitric oxide synthase 3 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:29274332 RGD:13504685 NCBI chrNW_004955491:5,438,228...5,457,308 JBrowse link
G Nppa natriuretic peptide A treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:23497378 RGD:7297056 NCBI chrNW_004955486:2,061,196...2,062,805 JBrowse link
G Nrg1 neuregulin 1 ISO associated with Diabetes Mellitus, Experimental;protein:decreased expresssion:left ventricle myocardium RGD PMID:22285193 RGD:10449013 NCBI chrNW_004955463:8,009,436...9,037,116 JBrowse link
G Pln phospholamban ISO associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle RGD PMID:22185592 RGD:7327207 NCBI chrNW_004955436:1,439,098...1,447,070 JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO Strain: ZDF RGD PMID:19317897 RGD:5509944 NCBI chrNW_004955413:30,306,563...30,366,245 JBrowse link
G Ryr2 ryanodine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16685413 NCBI chrNW_004955492:2,647,597...3,275,512 JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO CTD Direct Evidence: therapeutic CTD PMID:18945756 NCBI chrNW_004955403:23,878,329...23,882,322 JBrowse link
G Slc8a1 solute carrier family 8 member A1 treatment ISO RGD PMID:27058979 RGD:13628396 NCBI chrNW_004955441:7,653,107...8,037,784 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16980342 NCBI chrNW_004955474:1,914,477...1,922,025 JBrowse link
G Tert telomerase reverse transcriptase treatment ISO associated with Diabetes Mellitus, Type 2 RGD PMID:21264070 RGD:11038677 NCBI chrNW_004955504:649,248...669,796 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17909696 NCBI chrNW_004955437:117,267...119,899 JBrowse link
dilated cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:30311386 NCBI chrNW_004955437:9,915,371...9,924,886 JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:11439001, PMID:16086317, PMID:22209248, PMID:24088041, PMID:26633545, PMID:30311386 NCBI chrNW_004955442:865,292...921,739 JBrowse link
G Abcc9 ATP binding cassette subfamily C member 9 susceptibility ISO ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
RGD
ClinVar
PMID:12166651, PMID:15034580, PMID:20474083, PMID:24033266, PMID:25741868, PMID:28492532 RGD:1300328 NCBI chrNW_004955413:17,385,966...17,510,220 JBrowse link
G Abra actin binding Rho activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chrNW_004955417:29,874,234...29,883,648 JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:21932095, PMID:25087612, PMID:25741868, PMID:26385305, PMID:28468868, PMID:28492532 NCBI chrNW_004955467:9,684,070...9,689,454 JBrowse link
G Actc1 actin alpha cardiac muscle 1 susceptibility ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9563954, 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:22464770, PMID:24033266, PMID:24461919, PMID:24736382, PMID:25201647, PMID:25741868, PMID:27139165, PMID:28492532 RGD:1559158 NCBI chrNW_004955416:2,139,541...2,144,678 JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar PMID:14567970, PMID:17097056, PMID:20022194, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25224718, PMID:25741868, PMID:26899768, PMID:27287556, PMID:27896284, PMID:28492532 NCBI chrNW_004955492:3,483,704...3,554,831 JBrowse link
G Adrb1 adrenoceptor beta 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:9554809, PMID:18287209 RGD:5129132 NCBI chrNW_004955431:19,025,663...19,027,026 JBrowse link
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11986409, PMID:18287209 RGD:5129132 NCBI chrNW_004955415:5,515,157...5,517,198 JBrowse link
G Agt angiotensinogen no_association
treatment
ISO DNA:polymorphisms: :p.T174M, p.M235T (human) RGD PMID:9270088, PMID:22120037 RGD:1566491, RGD:8549486 NCBI chrNW_004955492:7,863,662...7,874,863 JBrowse link
G Agtr1 angiotensin II receptor type 1 treatment ISO RGD PMID:20886512, PMID:22120037 RGD:5129198, RGD:8549486 NCBI chrNW_004955474:8,733,942...8,781,305 JBrowse link
G Agtr2 angiotensin II receptor type 2 ISO mRNA, protein:increased expression:heart left ventricle RGD PMID:9815151, PMID:22120037 RGD:6903900, RGD:8549486 NCBI chrNW_004955534:3,653,112...3,654,248 JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chrNW_004955432:8,933,037...9,090,872 JBrowse link
G Alms1 ALMS1 centrosome and basal body associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447358 NCBI chrNW_004955424:12,130,496...12,258,684 JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar PMID:23861362, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004955457:13,624,590...13,938,427 JBrowse link
G Ankrd1 ankyrin repeat domain 1 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: Primary dilated cardiomyopathy
RGD
ClinVar
PMID:18273862, PMID:19525294, PMID:19608030, PMID:19608031, PMID:22337857, PMID:22388920, PMID:22892539, PMID:23299917, PMID:23572067, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25089522, PMID:25741868, PMID:27143260, PMID:27532257, PMID:28492532, PMID:28672880, PMID:28794111, PMID:29447731 RGD:5133277 NCBI chrNW_004955425:2,258,554...2,267,699 JBrowse link
G Ankrd37 ankyrin repeat domain 37 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955403:23,655,501...23,658,069 JBrowse link
G Ap3m1 adaptor related protein complex 3 subunit mu 1 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar NCBI chrNW_004955437:17,786,419...17,810,678 JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Familial dilated cardiomyopathy ClinVar PMID:14732481, PMID:21408211, PMID:24033266, PMID:25741868, PMID:26332594, PMID:26467025, PMID:27153395, PMID:28008009, PMID:28492532, PMID:30270084 NCBI chrNW_004955469:3,437,422...3,478,408 JBrowse link
G Apoe apolipoprotein E susceptibility ISO RGD PMID:16714771 RGD:1601240 NCBI chrNW_004955555:1,998,170...2,002,003 JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24358288 NCBI chrNW_004955412:10,422,753...10,531,406 JBrowse link
G Axin2 axin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chrNW_004955478:4,952,551...4,982,223 JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Familial 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:28436997, PMID:28492532, PMID:28737513, PMID:28798025, PMID:30012837, PMID:31333075, PMID:31568572 NCBI chrNW_004955551:446,322...468,329 JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:23980359, PMID:26004897 RGD:10054117, RGD:13782348 NCBI chrNW_004955559:1,695,960...1,700,246 JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO RGD PMID:26004897 RGD:13782348 NCBI chrNW_004955402:46,911,125...47,084,214 JBrowse link
G Bcl2l1 BCL2 like 1 ISO RGD PMID:26004897 RGD:13782348 NCBI chrNW_004955422:29,254,440...29,307,104 JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:23677916, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955454:4,573,647...5,199,046 JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chrNW_004955429:9,642,725...9,966,175 JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 susceptibility ISO DNA:SNPs:introns: RGD PMID:29495422 RGD:13515053 NCBI chrNW_004955440:17,364,996...17,497,446 JBrowse link
G Cacng8 calcium voltage-gated channel auxiliary subunit gamma 8 ISO mRNA,protein:decreased expression:left ventricule: RGD PMID:26710323 RGD:11353143 NCBI chrNW_004955604:204,482...221,833 JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955524:1,245,607...1,256,528 JBrowse link
G Casp3 caspase 3 ISO RGD PMID:26004897 RGD:13782348 NCBI chrNW_004955403:24,315,712...24,326,271 JBrowse link
G Casp8 caspase 8 ISO RGD PMID:26004897 RGD:13782348 NCBI chrNW_004955403:322,082...348,591 JBrowse link
G Casp9 caspase 9 ISO RGD PMID:26004897 RGD:13782348 NCBI chrNW_004955527:2,613,691...2,630,217 JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:20530761, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532 NCBI chrNW_004955435:18,941,975...18,996,027 JBrowse link
G Cat catalase ISO RGD PMID:10652196 RGD:1581150 NCBI chrNW_004955422:11,783,973...11,826,970 JBrowse link
G Ccdc110 coiled-coil domain containing 110 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955403:23,593,610...23,616,959 JBrowse link
G Cd27 CD27 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chrNW_004955413:4,102,740...4,107,739 JBrowse link
G Cd36 CD36 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:10981864 NCBI chrNW_004955410:5,003,720...5,120,903 JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:9495297 RGD:13702889 NCBI chrNW_004955445:11,191,817...11,202,156 JBrowse link
G Cep85l centrosomal protein 85 like ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:12610310, PMID:12639993, PMID:16235537, 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:25593317, PMID:25611685, PMID:25741868, PMID:25928149, PMID:26535225, PMID:26917049, PMID:27532257, PMID:28492532, PMID:28600387 NCBI chrNW_004955436:1,352,481...1,482,061 JBrowse link
G Cfap97 cilia and flagella associated protein 97 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955403:23,821,502...23,864,809 JBrowse link
G Chrm2 cholinergic receptor muscarinic 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:23408450, PMID:24033266, PMID:28492532 NCBI chrNW_004955494:5,845,581...5,975,614 JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955442:18,130,282...18,152,153 JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO RGD PMID:9616213 RGD:734815 NCBI chrNW_004955457:7,424,403...7,490,630 JBrowse link
G Cryab crystallin alpha B ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:19597569, PMID:26402864, PMID:28492532 NCBI chrNW_004955412:13,626,018...13,629,495 JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17334414 NCBI chrNW_004955451:14,688,181...14,690,126 JBrowse link
G Csrnp1 cysteine and serine rich nuclear protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chrNW_004955427:24,825,010...24,830,030 JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
DNA:missense mutation:cds:p.W4R (human)
RGD
ClinVar
PMID:9039266, PMID:9637704, 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 RGD:734837, RGD:734841 NCBI chrNW_004955476:155,913...176,122 JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
RGD
ClinVar
PMID:11058912, PMID:24033266, PMID:25741868, PMID:27149842, PMID:28492532 RGD:1626410 NCBI chrNW_004955493:7,735,996...7,737,559 JBrowse link
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955425:18,623,645...20,126,200 JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20376467, PMID:29394407 RGD:13524857 NCBI chrNW_004955420:29,030,716...29,047,447 JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15322218 RGD:1598502 NCBI chrNW_004955475:11,148,928...11,152,313 JBrowse link
G Des desmin ISO DNA:mutation:cds:c.679C>T(p.R227C)(human)
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated cardiomyopathy
protein:altered expression:cardiomyocyte:
RGD
ClinVar
PMID:10591032, 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:19587455, PMID:19716701, PMID:19763525, PMID:19879535, PMID:20171226, PMID:20423733, PMID:20448486, PMID:20474083, PMID:20696008, PMID:22106715, PMID:22153487, PMID:22215463, PMID:22275259, PMID:22403400, PMID:22484823, PMID:23155419, PMID:23349452, PMID:23815709, PMID:23861362, PMID:24033266, PMID:24088041, PMID:24503780, PMID:25394388, PMID:25557463, PMID:25590979, PMID:25741868, PMID:26467025, PMID:26633545, PMID:27393313, PMID:27532257, PMID:27854218, PMID:28171858, PMID:28492532, PMID:29247119, PMID:29556622 RGD:13525010, RGD:13542087, RGD:13592594 NCBI chrNW_004955453:14,039,502...14,046,572 JBrowse link
G Dmd dystrophin severity ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
mRNA, protein:decreased expression:myocardium
CTD
ClinVar
RGD
PMID:7599634, PMID:7849724, PMID:11496434, PMID:11710958, PMID:12359139, PMID:19194174, PMID:19409785, PMID:19760747, PMID:19937601, PMID:20373002, PMID:21396098, PMID:21969337, PMID:23299917, PMID:23352160, PMID:23871722, PMID:24033266, PMID:24055113, PMID:25007885, PMID:25310701, PMID:25637381, PMID:25741868, PMID:26467025, PMID:26743743, PMID:26990548, PMID:28492532, PMID:30311386, PMID:30415094 RGD:12880034, RGD:13702900, RGD:1580858, RGD:6771365 NCBI chrNW_004955535:1,283,084...3,297,015 JBrowse link
G Dnaaf3 dynein axonemal assembly factor 3 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:22876777, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955567:1,030,467...1,036,562 JBrowse link
G Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chrNW_004955580:907,056...913,604 JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chrNW_004955491:7,325,720...8,167,949 JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955402:18,465,631...18,496,948 JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar PMID:17105751, PMID:18382419, PMID:18639457, 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:25332820, PMID:25445213, PMID:25637381, PMID:25741868, PMID:25820315, PMID:26230511, PMID:27114410, PMID:27532257, PMID:28492532, PMID:28600387, PMID:30311386 NCBI chrNW_004955402:18,826,400...18,876,188 JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Congestive cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
RGD
ClinVar
PMID:10594734, PMID:11063735, PMID:16061754, PMID:16467215, PMID:16774985, PMID:16917092, 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:24055113, PMID:24070718, PMID:24503780, PMID:25227139, PMID:25616645, PMID:25637381, PMID:25661095, PMID:25676813, PMID:25741868, PMID:26230511, PMID:26399581, PMID:26656175, PMID:26850880, PMID:27097650, PMID:27153395, PMID:27532257, PMID:28074886, PMID:28416588, PMID:28492532, PMID:28527814, PMID:28588093, PMID:28759816, PMID:30311386, PMID:31333075, PMID:31568572 RGD:1580891 NCBI chrNW_004955465:6,356,970...6,391,206 JBrowse link
G Dtna dystrobrevin alpha ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955402:21,414,122...21,676,389 JBrowse link
G Ece1 endothelin converting enzyme 1 ISO RGD PMID:11145756 RGD:1580911 NCBI chrNW_004955452:1,653,783...1,704,619 JBrowse link
G Edn1 endothelin 1 severity ISO protein:increased expression:aorta, plasma (human) RGD PMID:10026353 RGD:8661756 NCBI chrNW_004955465:2,287,906...2,314,945 JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:18599591, PMID:22646904 RGD:7204501 NCBI chrNW_004955456:321,222...456,431 JBrowse link
G Egln1 egl-9 family hypoxia inducible factor 1 ISO RGD PMID:18096761 RGD:11251770 NCBI chrNW_004955492:7,407,800...7,454,851 JBrowse link
G Emd emerin ISO DNA:deletion:cds:c.26_39delATACCGAGCTGACC(human)
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
RGD
ClinVar
PMID:24997722, PMID:25741868 RGD:13592595 NCBI chrNW_004955580:864,532...866,904 JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:12072561, PMID:15685397 RGD:1580988, RGD:734939 NCBI chrNW_004955451:14,442,816...14,456,009 JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO DNA:deletion:introns, exon (human)
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
RGD
ClinVar
PMID:10769282, PMID:15735644, PMID:17567890, PMID:24033266 RGD:1598455 NCBI chrNW_004955436:13,710,366...13,982,379 JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:cardiocyte
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16761189, PMID:17943461 RGD:1600334 NCBI chrNW_004955425:3,961,671...3,987,513 JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:17943461 NCBI chrNW_004955406:13,098,479...13,107,045 JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chrNW_004955506:1,063,002...1,079,939 JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:17416352, PMID:24033266, PMID:25358972, PMID:25741868, PMID:26627873, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chrNW_004955470:10,240,117...10,286,117 JBrowse link
G Fkrp fukutin related protein ISO DNA:missense mutation:exon:p.L276I (826C>A) (human)
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
RGD
ClinVar
PMID:15833432, PMID:25741868 RGD:11667064 NCBI chrNW_004955574:779,672...789,621 JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive ClinVar PMID:17597323, PMID:28492532 NCBI chrNW_004955419:20,933,662...20,994,793 JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:21520333, PMID:25741868, PMID:26436962, PMID:28492532, PMID:30311386, PMID:30411535 NCBI chrNW_004955479:9,633,817...9,661,725 JBrowse link
G Gaa glucosidase alpha, acid ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955506:2,764,959...2,783,231 JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:18076106, PMID:20874241, PMID:24033266, PMID:25741868, PMID:27374936, PMID:28492532 NCBI chrNW_004955403:52,958,318...53,029,267 JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:25741868 NCBI chrNW_004955472:553,556...564,411 JBrowse link
G Gja1 gap junction protein alpha 1 ISO RGD PMID:12619876 RGD:1582667 NCBI chrNW_004955436:3,612,533...3,618,095 JBrowse link
G Gnaq G protein subunit alpha q ISO RGD PMID:9811897 RGD:1598475 NCBI chrNW_004955512:1,381,159...1,658,409 JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955442:18,224,081...18,281,558 JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chrNW_004955430:23,481,957...23,536,407 JBrowse link
G Gpx1 glutathione peroxidase 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :p.P198L (human)
CTD
RGD
PMID:18940188 RGD:2306616 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:28701297 NCBI chrNW_004955555:668,641...676,351 JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar PMID:25741868, PMID:28341588, PMID:28492532 NCBI chrNW_004955450:4,139,852...4,181,377 JBrowse link
G Hfe homeostatic iron regulator susceptibility ISO RGD PMID:11040018 RGD:1582687 NCBI chrNW_004955483:933,269...941,070 JBrowse link
G Igf1 insulin like growth factor 1 ISO RGD PMID:11934830 RGD:1598419 NCBI chrNW_004955405:37,505,830...37,582,152 JBrowse link
G Il10 interleukin 10 ISO mRNA:decreased expression:heart left ventricle RGD PMID:19242323 RGD:2311057 NCBI chrNW_004955406:42,307,789...42,312,255 JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO protein:increased expression:myocardium RGD PMID:18362439 RGD:2298568 NCBI chrNW_004955490:708,144...758,195 JBrowse link
G Ilk integrin linked kinase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chrNW_004955414:22,316,243...22,322,979 JBrowse link
G Irf4 interferon regulatory factor 4 ISO protein:decreased expression:heart RGD PMID:23589561 RGD:11530060 NCBI chrNW_004955465:12,497,534...12,512,529 JBrowse link
G Itgb1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11884376 NCBI chrNW_004955462:4,454,809...4,483,227 JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO RGD PMID:12496958 RGD:1582491 NCBI chrNW_004955475:10,854,148...10,858,802 JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy RGD
ClinVar
PMID:15541368, PMID:25741868, PMID:28492532 RGD:1580652 NCBI chrNW_004955445:13,117,312...13,190,061 JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar PMID:21859740, PMID:23861362, PMID:24033266, PMID:25741868, PMID:27532257, PMID:27662471, PMID:28492532, PMID:28831623, PMID:30311386 NCBI chrNW_004955451:15,993,055...16,004,152 JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chrNW_004955435:15,227,386...15,431,136 JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:25741868, PMID:28492532, PMID:30461122 NCBI chrNW_004955407:33,807,581...33,814,356 JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar NCBI chrNW_004955407:33,734,969...33,736,609 JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:15176425, PMID:16244680, PMID:22402334, PMID:22581653, PMID:25741868, PMID:28492532 NCBI chrNW_004955491:5,391,444...5,422,241 JBrowse link
G Kcnj5 potassium inwardly rectifying channel subfamily J member 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955412:29,850,097...29,874,213 JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO RGD PMID:15864294 RGD:1581757 NCBI chrNW_004955413:20,298,852...20,328,756 JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chrNW_004955436:9,829,777...10,400,101 JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28416588, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chrNW_004955526:4,330,388...4,465,810 JBrowse link
G Lamp2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:24033266, PMID:28492532 NCBI chrNW_004955572:1,423,048...1,464,443 JBrowse link
G Lck LCK proto-oncogene, Src family tyrosine kinase ISO RGD PMID:17711737 RGD:2316557 NCBI chrNW_004955452:10,608,317...10,632,310 JBrowse link
G Ldb3 LIM domain binding 3 no_association ISO DNA:missense mutation: :p.D117N (human)
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
DNA:missense mutation: :p.D626N (human)
DNA:missense mutation:exon:p.S196L (human)
RGD
ClinVar
PMID:14660611, PMID:14662268, PMID:15668942, PMID:17235623, PMID:17438622, PMID:19412328, PMID:20474083, PMID:20590677, PMID:20852297, PMID:22337857, PMID:22929165, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25041374, PMID:25326637, PMID:25616123, PMID:25741868, PMID:26419279, PMID:26467025, PMID:27884173, PMID:27896284, PMID:28349680, PMID:28492532, PMID:31333075, PMID:31568572 RGD:11098950, RGD:11527732, RGD:1580827 NCBI chrNW_004955510:5,738,254...5,793,643 JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO RGD PMID:16738313 RGD:11252001 NCBI chrNW_004955496:1,728,840...1,827,749 JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphism: :p.Q223R (human) RGD PMID:19337797 RGD:2311129 NCBI chrNW_004955423:25,108,897...25,185,315 JBrowse link
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: Congestive cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutations:cds:multiple (human)
DNA:mutation
DNA:missense mutations, deletion:cds:multiple (human)
RGD
ClinVar
CTD
PMID:2280636, PMID:2526018, PMID:8621584, PMID:10080180, PMID:10441578, PMID:10580070, PMID:10587585, PMID:10612827, PMID:10662742, PMID:10739751, PMID:10814726, PMID:10908904, PMID:10939567, PMID:11102526, PMID:11102973, PMID:11138304, PMID:11180602, PMID:11342468, PMID:11561226, PMID:11792809, PMID:11792810, PMID:11799477, PMID:11897440, PMID:12015247, PMID:12032588, PMID:12376891, PMID:12467752, PMID:12628721, PMID:12673789, PMID:12702809, PMID:12714972, PMID:12768443, PMID:12783988, PMID:12788894, PMID:12920062, PMID:12927431, PMID:14597414, PMID:14607793, PMID:14675861, PMID:14684700, PMID:15032975, PMID:15053843, PMID:15060110, PMID:15140538, PMID:15148145, PMID:15184648, PMID:15205219, PMID:15219508, PMID:15317753, PMID:15342704, PMID:15372542, PMID:15475483, PMID:15668447, PMID:15688064, PMID:15724423, PMID:15770669, PMID:15793835, PMID:15843403, PMID:15972724, PMID:15982412, PMID:15996213, PMID:15998779, PMID:16061563, PMID:16126733, PMID:16156025, PMID:16266469, PMID:16278265, PMID:16386954, PMID:16407522, PMID:16537768, PMID:16585054, PMID:16630578, PMID:16715312, PMID:16738054, PMID:16809772, PMID:16816143, PMID:16838330, PMID:16965317, PMID:16990647, PMID:17076270, PMID:17107595, PMID:17139325, PMID:17250669, PMID:17334235, PMID:17377071, PMID:17386158, PMID:17446932, PMID:17459035, PMID:17469202, PMID:17599607, PMID:17987279, PMID:18031519, PMID:18035086, PMID:18182166, PMID:18256394, PMID:18337098, PMID:18414213, PMID:18478590, PMID:18549403, PMID:18551513, PMID:18564364, PMID:18585512, PMID:18606848, PMID:18611980, PMID:18646565, PMID:18714801, PMID:18795223, PMID:18816602, PMID:18926329, PMID:19167105, PMID:19172989, PMID:19283854, PMID:19318026, PMID:19328042, PMID:19424285, PMID:19427440, PMID:19524666, PMID:19589617, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19842191, PMID:19875404, PMID:19882644, PMID:20019332, PMID:20074070, PMID:20127487, PMID:20155465, PMID:20160190, PMID:20307303, PMID:20497714, PMID:20576434, PMID:20627339, PMID:20662858, PMID:20848652, PMID:21085127, PMID:21151901, PMID:21173262, PMID:21315846, PMID:21483645, PMID:21632249, PMID:21689390, PMID:21831885, PMID:21840938, PMID:21846512, PMID:21875900, PMID:21980471, PMID:22071332, PMID:22103508, PMID:22148005, PMID:22177269, PMID:22186027, PMID:22199124, PMID:22224630, PMID:22266370, PMID:22276265, PMID:22326558, PMID:22355414, PMID:22464770, PMID:22526018, PMID:22570643, PMID:22611635, PMID:22685055, PMID:22893709, PMID:22918509, PMID:23062543, PMID:23071165, PMID:23141186, PMID:23142632, PMID:23183350, PMID:23349452, PMID:23360689, PMID:23362510, PMID:23427149, PMID:23582089, PMID:23644458, PMID:23701190, PMID:23702046, PMID:23804595, PMID:23853504, PMID:23861362,