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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 IAGP 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 chr12:21,797,389...21,941,863
Ensembl chr12:21,797,401...21,942,529
JBrowse link
G AC009264.1 novel transcript, antisense to CHRM2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18451336 NCBI chr 7:136,898,773...137,164,341
Ensembl chr 7:136,685,559...137,182,107
JBrowse link
G AC087457.1 novel transcript, antisense to ACTC1 IAGP 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 chr15:34,755,084...34,812,923
Ensembl chr15:34,755,084...34,813,505
JBrowse link
G ACE2 angiotensin I converting enzyme 2 EXP CTD Direct Evidence: therapeutic CTD PMID:28445944 NCBI chr  X:15,518,197...15,602,158
Ensembl chr  X:15,561,033...15,602,148
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISS MouseDO NCBI chr 4:184,755,595...184,826,593
Ensembl chr 4:184,755,595...184,826,818
JBrowse link
G ACTC1 actin alpha cardiac muscle 1 IAGP 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 chr15:34,790,230...34,795,549
Ensembl chr15:34,790,230...34,795,549
JBrowse link
G ACTN2 actinin alpha 2 IAGP 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 chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631
JBrowse link
G ADAM10 ADAM metallopeptidase domain 10 ISO RGD PMID:24244825 RGD:13702879 NCBI chr15:58,588,809...58,749,707
Ensembl chr15:58,588,809...58,749,791
JBrowse link
G ADCY5 adenylate cyclase 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18029912, PMID:23536361 NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090
JBrowse link
G ADCYAP1 adenylate cyclase activating polypeptide 1 EXP CTD Direct Evidence: therapeutic CTD PMID:20378996 NCBI chr18:904,384...912,172
Ensembl chr18:904,871...912,172
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing disease_progression
treatment
IEP
ISO
IMP
associated with inflammation; mRNA, protein:increased expression:heart, plasma
protein:decreased expression:serum
RGD PMID:21278397, PMID:23723143, PMID:23723143 RGD:5686895, RGD:8695930, RGD:8695930 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G ADORA2A adenosine A2a receptor EXP CTD Direct Evidence: therapeutic CTD PMID:20363887 NCBI chr22:24,423,597...24,442,357
Ensembl chr22:24,417,879...24,442,357
JBrowse link
G ADRB2 adrenoceptor beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25193472 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,825,245...148,828,687
JBrowse link
G AGT angiotensinogen EXP CTD Direct Evidence: marker/mechanism CTD PMID:12145768 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,702,523...230,714,122
JBrowse link
G AKAP9 A-kinase anchoring protein 9 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362, PMID:25016126, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 7:91,940,862...92,112,908
Ensembl chr 7:91,940,867...92,110,673
Ensembl chr 7:91,940,867...92,110,673
JBrowse link
G AKT1 AKT serine/threonine kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24448315 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ALPK3 alpha kinase 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28630369 NCBI chr15:84,817,356...84,873,479
Ensembl chr15:84,817,356...84,873,479
Ensembl chr15:84,817,356...84,873,479
JBrowse link
G ANK2 ankyrin 2 IAGP 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 chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G ANKRD1 ankyrin repeat domain 1 IAGP 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 chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087
JBrowse link
G APOA1 apolipoprotein A1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOA1-AS APOA1 antisense RNA IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr11:116,836,117...116,855,729
Ensembl chr11:116,836,117...116,856,018
JBrowse link
G APP amyloid beta precursor protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:29068127 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
JBrowse link
G AQP2 aquaporin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12145768 NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878
JBrowse link
G ATF3 activating transcription factor 3 EXP CTD Direct Evidence: therapeutic CTD PMID:25136830 NCBI chr 1:212,565,407...212,620,777
Ensembl chr 1:212,565,334...212,620,777
JBrowse link
G ATP5F1B ATP synthase F1 subunit beta treatment ISO mRNA:increased expression:heart (rat) RGD PMID:17229387 RGD:13792652 NCBI chr12:56,638,175...56,645,984
Ensembl chr12:56,638,175...56,645,984
JBrowse link
G AVP arginine vasopressin EXP CTD Direct Evidence: marker/mechanism CTD PMID:12145768 NCBI chr20:3,082,556...3,093,521
Ensembl chr20:3,082,556...3,084,724
JBrowse link
G AVPR2 arginine vasopressin receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12145768 NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166
JBrowse link
G BAG3 BAG cochaperone 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:26467025, PMID:27042682, PMID:28492532 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,370...119,677,819
Ensembl chr10:119,651,370...119,677,819
JBrowse link
G BDKRB2 bradykinin receptor B2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10614985 NCBI chr14:96,204,839...96,244,164
Ensembl chr14:96,204,679...96,244,166
JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28492532, PMID:30311386 NCBI chr 9:92,711,363...92,764,841
Ensembl chr 9:92,711,363...92,764,833
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:24728327, PMID:25741868, PMID:26260725, PMID:26530882, PMID:26580448, PMID:26848617 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP 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 chr12:1,969,552...2,697,950
Ensembl chr12:1,970,786...2,697,950
JBrowse link
G CACNA1C-AS1 CACNA1C antisense RNA 1 IAGP 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 chr12:2,676,001...2,691,157
Ensembl chr12:2,676,001...2,691,200
JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP 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 chr10:18,140,424...18,545,881
Ensembl chr10:18,140,677...18,543,557
Ensembl chr10:18,140,677...18,543,557
JBrowse link
G CALR3 calreticulin 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr19:16,479,061...16,496,167
Ensembl chr19:16,479,057...16,496,192
Ensembl chr19:16,479,057...16,496,192
JBrowse link
G CASQ2 calsequestrin 2 IAGP 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 chr 1:115,700,021...115,768,714
Ensembl chr 1:115,700,021...115,768,714
Ensembl chr 1:115,700,021...115,768,714
JBrowse link
G CASR calcium sensing receptor ISO associated with Uremia RGD PMID:19188910 RGD:7205661 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,683...122,291,629
Ensembl chr 3:122,183,683...122,291,629
JBrowse link
G CAT catalase EXP CTD Direct Evidence: therapeutic CTD PMID:11800590 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CAV3 caveolin 3 IAGP 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 chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
Ensembl chr 3:8,733,802...8,841,808
JBrowse link
G CBR1 carbonyl reductase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11016643 NCBI chr21:36,070,024...36,073,164
Ensembl chr21:36,069,941...36,073,166
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:myocardium RGD PMID:18806609 RGD:2307006 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CD36 CD36 molecule treatment ISO RGD PMID:17363697 RGD:11040927 NCBI chr 7:80,602,207...80,679,277
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G CEP85L centrosomal protein 85 like IAGP 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 chr 6:118,460,772...118,710,101
Ensembl chr 6:118,460,772...118,710,075
JBrowse link
G CHRM2 cholinergic receptor muscarinic 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18451336 NCBI chr 7:136,868,652...137,020,213
Ensembl chr 7:136,868,669...137,020,255
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:30311386 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL4A2 collagen type IV alpha 2 chain IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209
JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 NCBI chr10:99,694,293...99,732,131
Ensembl chr10:99,711,844...99,732,100
Ensembl chr10:99,711,844...99,732,100
JBrowse link
G CRYAB crystallin alpha B IAGP 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 chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722
JBrowse link
G CS citrate synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:14568902 NCBI chr12:56,271,699...56,300,330
Ensembl chr12:56,271,699...56,300,391
JBrowse link
G CSRP3 cysteine and glycine rich protein 3 IAGP 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 chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571
JBrowse link
G CSRP3-AS1 CSRP3 and E2F8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 NCBI chr11:19,196,233...19,312,856
Ensembl chr11:19,196,775...19,281,426
JBrowse link
G CTF1 cardiotrophin 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr16:30,895,824...30,903,560
Ensembl chr16:30,896,614...30,903,547
Ensembl chr16:30,896,614...30,903,547
JBrowse link
G CYP2C9 cytochrome P450 family 2 subfamily C member 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16580879 NCBI chr10:94,938,658...94,990,091
Ensembl chr10:94,938,658...94,990,091
JBrowse link
G DES desmin IAGP
ISS
ClinVar Annotator: match by term: Cardiomyopathy ClinVar
MouseDO
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 chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,734
JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 IMP RGD PMID:21220706 RGD:10400890 NCBI chr 8:144,314,584...144,326,852
Ensembl chr 8:144,314,584...144,326,910
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28250423, PMID:28492532, PMID:28972118, PMID:29300326, PMID:30311386 NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G DMD dystrophin EXP
IAGP
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 chr  X:31,119,219...33,339,460
Ensembl chr  X:31,097,677...33,339,441
JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:22876777, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722
JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:154,401,236...154,412,101
Ensembl chr  X:154,401,236...154,412,112
JBrowse link
G DSC2 desmocollin 2 IAGP 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 chr18:31,058,840...31,102,421
Ensembl chr18:31,058,840...31,102,522
JBrowse link
G DSCAS DSC1/DSC2 antisense RNA IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:20864495, PMID:21636032, PMID:23911551, PMID:24033266, PMID:24704780, PMID:25351510, PMID:25741868, PMID:28492532 NCBI chr18:31,101,588...31,162,789
Ensembl chr18:31,101,583...31,162,789
JBrowse link
G DSG2 desmoglein 2 IAGP 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 chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008
JBrowse link
G DSG2-AS1 DSG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:16025435, PMID:16773573, PMID:16774985, PMID:17105751, PMID:17372169, PMID:18382419, PMID:18678517, PMID:18813333, PMID:19039334, PMID:19863551, PMID:20031616, PMID:20031617, PMID:20708101, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:21397041, PMID:21606390, PMID:23299917, PMID:23381804, PMID:23514727, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24503780, PMID:25087486, PMID:25172079, PMID:25174650, PMID:25213555, PMID:25637381, PMID:25741868, PMID:26633542, PMID:26656175, PMID:27005929, PMID:27114410, PMID:27532257, PMID:28454995, PMID:28492532, PMID:28567303, PMID:30311386, PMID:30615648 NCBI chr18:31,542,146...31,556,911
Ensembl chr18:31,542,146...31,556,948
JBrowse link
G DSP desmoplakin IAGP 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 chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G DTNA dystrobrevin alpha IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:28492532, PMID:11238270 RGD:1580893 NCBI chr18:34,493,298...34,891,844
Ensembl chr18:34,493,290...34,891,844
JBrowse link
G EDN1 endothelin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11589785 NCBI chr 6:12,256,463...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G EMD emerin IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:20474083, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:154,379,236...154,381,523
Ensembl chr  X:154,379,273...154,381,523
Ensembl chr  X:154,379,273...154,381,523
JBrowse link
G EP300 E1A binding protein p300 IEP protein:increased expression:heart left ventricle, nucleus (human) RGD PMID:20375365 RGD:7364750 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G EPG5 ectopic P-granules autophagy protein 5 homolog EXP CTD Direct Evidence: marker/mechanism CTD PMID:23222957 NCBI chr18:45,800,586...45,967,339
Ensembl chr18:45,847,609...45,967,329
JBrowse link
G EPO erythropoietin EXP CTD Direct Evidence: therapeutic CTD PMID:16449733, PMID:16731534, PMID:17924179, PMID:17928571 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G FAS Fas cell surface death receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:10716473, PMID:10920071, PMID:17943461 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FASLG Fas ligand EXP CTD Direct Evidence: marker/mechanism CTD PMID:16324756, PMID:17943461 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FHL2 four and a half LIM domains 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:17416352, PMID:24033266, PMID:25741868, PMID:26627873, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr 2:105,357,712...105,438,529
Ensembl chr 2:105,357,712...105,438,513
JBrowse link
G FKBP1B FKBP prolyl isomerase 1B ISO associated with Diabetes Mellitus, Experimental RGD PMID:19000375 RGD:2302065 NCBI chr 2:24,033,205...24,067,743
Ensembl chr 2:24,049,701...24,063,681
JBrowse link
G FKRP fukutin related protein IAGP 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 chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G FKTN fukutin IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:14627679, PMID:17878207, PMID:21102627, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 9:105,558,117...105,655,950
Ensembl chr 9:105,558,122...105,653,820
Ensembl chr 9:105,558,122...105,653,820
JBrowse link
G FLCN folliculin IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chr17:17,206,946...17,237,188
Ensembl chr17:17,212,212...17,237,188
JBrowse link
G FLNC filamin C IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,377...128,859,274
JBrowse link
G GAA glucosidase alpha, acid IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25466677, PMID:25741868, PMID:27183828, PMID:28492532, PMID:29149851, PMID:31076647 NCBI chr17:80,101,535...80,119,881
Ensembl chr17:80,101,556...80,119,881
JBrowse link
G GLA galactosidase alpha IAGP 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 chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012
Ensembl chr  X:101,393,273...101,408,012
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO mRNA:decreased expression:myocardium (rat) RGD PMID:20733562 RGD:13504856 NCBI chr10:99,396,870...99,430,624
Ensembl chr10:99,396,870...99,430,624
JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 3:32,106,620...32,168,715
Ensembl chr 3:32,105,689...32,168,713
Ensembl chr 3:32,105,689...32,168,713
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 EXP CTD Direct Evidence: therapeutic CTD PMID:17008600 NCBI chr11:67,266,420...67,286,556
Ensembl chr11:67,266,473...67,286,556
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP 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 chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
JBrowse link
G HDAC8 histone deacetylase 8 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chr  X:72,329,516...72,573,099
Ensembl chr  X:72,329,516...72,573,101
JBrowse link
G HFE homeostatic iron regulator treatment
no_association
IAGP 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, PMID:23861158 RGD:10755538, RGD:10755538 NCBI chr 6:26,087,347...26,098,343
Ensembl chr 6:26,087,281...26,098,343
JBrowse link
G HGF hepatocyte growth factor EXP CTD Direct Evidence: therapeutic CTD PMID:16109756, PMID:18083897 NCBI chr 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 EXP CTD Direct Evidence: therapeutic CTD PMID:12967636 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G HSPE1 heat shock protein family E (Hsp10) member 1 EXP CTD Direct Evidence: therapeutic CTD PMID:12967636 NCBI chr 2:197,500,379...197,503,449
Ensembl chr 2:197,500,140...197,503,449
JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO RGD PMID:22976834 RGD:10402865 NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,725...74,533,332
Ensembl chr 2:74,529,725...74,533,332
JBrowse link
G IFNG interferon gamma ISS MouseDO NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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 chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G IL1A interleukin 1 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL4 interleukin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7578376 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10716473 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G ILK integrin linked kinase IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr11:6,603,748...6,610,873
Ensembl chr11:6,603,708...6,610,874
JBrowse link
G INSR insulin receptor ISO RGD PMID:11877471 RGD:1302524 NCBI chr19:7,112,257...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO mRNA:decreased expression:heart left ventricle RGD PMID:23619365 RGD:7495791 NCBI chr  X:154,010,507...154,019,984
Ensembl chr  X:154,010,506...154,019,902
JBrowse link
G ITGA7 integrin subunit alpha 7 treatment ISO RGD PMID:15632017 RGD:13601980 NCBI chr12:55,684,568...55,716,037
Ensembl chr12:55,684,568...55,716,043
JBrowse link
G ITGB1 integrin subunit beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chr10:32,900,318...32,958,230
Ensembl chr10:32,900,318...33,005,792
JBrowse link
G JPH2 junctophilin 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:22584458, PMID:23834499, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr20:44,106,590...44,187,946
Ensembl chr20:44,111,695...44,187,578
Ensembl chr20:44,111,695...44,187,578
JBrowse link
G JUP junction plakoglobin IAGP Naxos disease, OMIM:601214 DNA:deletion:CDS:2157delTG
ClinVar Annotator: match by term: Cardiomyopathy
ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532, PMID:10902626 RGD:1600286 NCBI chr17:41,754,608...41,786,711
Ensembl chr17:41,754,604...41,786,931
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP 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 chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,210
JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 IAGP 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 chr11:74,454,841...74,467,729
Ensembl chr11:74,454,841...74,467,729
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP 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 chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105
Ensembl chr11:2,444,684...2,849,105
JBrowse link
G KLK1 kallikrein 1 IDA associated with Diabetes Mellitus, Experimental RGD PMID:15117887 RGD:1641802 NCBI chr19:50,819,146...50,823,787
Ensembl chr19:50,819,146...50,823,787
JBrowse link
G KRAS KRAS proto-oncogene, GTPase no_association ISO RGD PMID:24259500 RGD:11568677 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP 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 chr 6:112,107,931...112,254,722
Ensembl chr 6:112,107,931...112,254,939
JBrowse link
G LAMP2 lysosomal associated membrane protein 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23785128, PMID:24033266, PMID:25091525, PMID:25741868, PMID:27600940, PMID:28492532, PMID:28771489 NCBI chr  X:120,426,148...120,469,349
Ensembl chr  X:120,426,148...120,469,365
Ensembl chr  X:120,426,148...120,469,365
JBrowse link
G LDB3 LIM domain binding 3 IAGP 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 chr10:86,666,788...86,736,072
Ensembl chr10:86,668,507...86,736,072
Ensembl chr10:86,668,507...86,736,072
JBrowse link
G LDHA lactate dehydrogenase A EXP CTD Direct Evidence: marker/mechanism CTD PMID:15231041 NCBI chr11:18,394,563...18,408,425
Ensembl chr11:18,394,560...18,408,425
JBrowse link
G LIPC lipase C, hepatic type IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chr15:58,410,457...58,569,844
Ensembl chr15:58,410,569...58,569,844
JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 IAGP 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 chr11:74,490,519...74,493,724
Ensembl chr11:74,490,519...74,493,724
JBrowse link
G LMNA lamin A/C IAGP 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 chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G LOC110121269 VISTA enhancer hs2177 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:38,578,362...38,581,496 JBrowse link
G LOC110121486 VISTA enhancer hs2143 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:14662268, PMID:15668942, PMID:17337483, PMID:18765652, PMID:19377068, PMID:23263837, PMID:24033266, PMID:24647531, PMID:24668811, PMID:25208129, PMID:25741868, PMID:26467025, PMID:27618136, PMID:28349680, PMID:28492532 NCBI chr10:86,684,072...86,689,569 JBrowse link
G LOC114827850 VISTA enhancer hs2149 IAGP 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:16076902, PMID:16751284, PMID:17606808, PMID:18506004, PMID:21310275, PMID:21896538, PMID:22091967, PMID:22797899, PMID:22958901, PMID:23197161, PMID:23299917, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24111713, PMID:25324513, PMID:25333069, PMID:25351510, PMID:25637381, PMID:25741868, PMID:26497160, PMID:26656175, PMID:26664906, PMID:27153395, PMID:27435932, PMID:27532257, PMID:28223422, PMID:28492532 NCBI chr12:110,918,953...110,921,387 JBrowse link
G LOC114827851 VISTA enhancer hs2155 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:20656787, PMID:23861362, PMID:24033266, PMID:25163546, PMID:25351510, PMID:25741868, PMID:26656175, PMID:28492532, PMID:28771489, PMID:28797094, PMID:28991257 NCBI chr14:23,404,568...23,409,443 JBrowse link
G LPL lipoprotein lipase EXP CTD Direct Evidence: marker/mechanism CTD PMID:10533957 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
G LRP1 LDL receptor related protein 1 ISS MouseDO NCBI chr12:57,128,401...57,213,377
Ensembl chr12:57,128,483...57,213,361
JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28492532, PMID:30311386 NCBI chr 2:43,886,224...43,995,989
Ensembl chr 2:43,886,224...43,995,989
JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18342293 NCBI chr 6:136,557,046...136,793,098
Ensembl chr 6:136,557,046...136,792,477
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 EXP CTD Direct Evidence: therapeutic CTD PMID:10620750 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,754,500...21,867,680
Ensembl chr22:21,754,500...21,867,680
JBrowse link
G MAPK11 mitogen-activated protein kinase 11 EXP CTD Direct Evidence: therapeutic CTD PMID:10620750 NCBI chr22:50,263,713...50,270,380
Ensembl chr22:50,263,713...50,270,767
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10620750 NCBI chr 6:36,027,711...36,122,964
Ensembl chr 6:36,027,677...36,111,236
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 EXP CTD Direct Evidence: therapeutic CTD PMID:10620750 NCBI chr16:30,114,105...30,123,309
Ensembl chr16:30,114,105...30,123,506
JBrowse link
G MAPT microtubule associated protein tau EXP CTD Direct Evidence: marker/mechanism CTD PMID:29068127 NCBI chr17:45,894,538...46,028,334
Ensembl chr17:45,894,551...46,028,334
Ensembl chr17:45,894,551...46,028,334
JBrowse link
G MEGF10 multiple EGF like domains 10 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:30311386 NCBI chr 5:127,229,519...127,461,222
Ensembl chr 5:127,290,796...127,465,737
JBrowse link
G MHRT myosin heavy chain associated RNA transcript IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:11861413, PMID:12707239, PMID:12881443, PMID:15322983, PMID:15358028, PMID:15483641, PMID:15556047, PMID:15757018, PMID:15769782, PMID:17125710, PMID:17336526, PMID:18403758, PMID:18409188, PMID:18414213, PMID:18506004, PMID:18660445, PMID:19150014, PMID:19412328, PMID:19659763, PMID:19854198, PMID:20298698, PMID:20624503, PMID:20800588, PMID:20818890, PMID:20981092, PMID:21127202, PMID:21302287, PMID:21310275, PMID:21425739, PMID:21511876, PMID:21750094, PMID:22155079, PMID:22337857, PMID:22464770, PMID:22555271, PMID:22763267, PMID:22765922, PMID:22784669, PMID:22918376, PMID:22958901, PMID:23054336, PMID:23074333, PMID:23153285, PMID:23197161, PMID:23233322, PMID:23283745, PMID:23299917, PMID:23403236, PMID:23782526, PMID:23785128, PMID:23794396, PMID:23861362, PMID:24033266, PMID:24047955, PMID:24093860, PMID:24111713, PMID:24119082, PMID:24498601, PMID:24503780, PMID:24510615, PMID:24664454, PMID:24793961, PMID:24835277, PMID:25031304, PMID:25342278, PMID:25351510, PMID:25447171, PMID:25611685, PMID:25637381, PMID:25741868, PMID:25961035, PMID:25979592, PMID:26383716, PMID:26467025, PMID:26846766, PMID:26914223, PMID:27224906, PMID:27247418, PMID:27532257, PMID:27574918, PMID:27600940, PMID:27688314, PMID:27841901, PMID:27884173, PMID:28152038, PMID:28193612, PMID:28241245, PMID:28356264, PMID:28492532, PMID:28606303, PMID:28640247, PMID:28750076, PMID:28771489, PMID:28790153, PMID:28794111, PMID:29121657, PMID:29178653, PMID:29300372, PMID:29661763, PMID:29875424, PMID:30022097, PMID:30105547, PMID:30297972, PMID:30311386, PMID:30871747 NCBI chr14:23,415,450...23,417,595 JBrowse link
G MIF macrophage migration inhibitory factor ISO associated with Endotoxemia RGD PMID:15879312 RGD:1641991 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
JBrowse link
G MIPEP mitochondrial intermediate peptidase IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:27799064, PMID:28492532 NCBI chr13:23,730,189...23,889,448
Ensembl chr13:23,730,189...23,889,400
JBrowse link
G MIR433 microRNA 433 IEP RGD PMID:27698941 RGD:14700802 NCBI chr14:100,881,886...100,881,978
Ensembl chr14:100,881,886...100,881,978
JBrowse link
G MLYCD malonyl-CoA decarboxylase IAGP malonyl-CoA decarboxylase deficiency, OMIM:248360 RGD PMID:10455107 RGD:1600798 NCBI chr16:83,899,115...83,927,031
Ensembl chr16:83,899,115...83,951,445
JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28492532, PMID:30311386 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
JBrowse link
G MMP2 matrix metallopeptidase 2 IEP RGD PMID:16681691 RGD:1581215 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment IEP
ISO
RGD PMID:16681691, PMID:21810612 RGD:1581215, RGD:13204757 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I EXP CTD Direct Evidence: marker/mechanism CTD PMID:14568902 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP DNA:transition: :m.3303C>T (human)
ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy
ClinVar PMID:1677065, PMID:7906985, PMID:8132749, PMID:8210299, PMID:9841711, PMID:10431114, PMID:31965079, PMID:7906985 RGD:1580746 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
JBrowse link
G MYBPC3 myosin binding protein C3 IAGP
EXP
ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Familial cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
JBrowse link
G MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:30311386 NCBI chr16:15,703,135...15,857,032
Ensembl chr16:15,703,135...15,857,028
JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar PMID:15998695, PMID:20215591, PMID:20656787, PMID:22194935, PMID:22361390, PMID:23299917, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24082139, PMID:24119082, PMID:24503780, PMID:25163546, PMID:25351510, PMID:25467552, PMID:25500235, PMID:25741868, PMID:25931334, PMID:26085007, PMID:26350513, PMID:26383259, PMID:26656175, PMID:27194543, PMID:27760138, PMID:27789736, PMID:28087566, PMID:28088328, PMID:28492532, PMID:28600387, PMID:28771489, PMID:28797094, PMID:28991257, PMID:29332214, PMID:29517769 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
JBrowse link
G MYH7 myosin heavy chain 7 IAGP DNA:missense mutation:exon:p.R1053Q (human)
ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar PMID:1430197, PMID:1472461, PMID:1552912, PMID:1638703, PMID:1739523, PMID:1944483, PMID:1975517, PMID:1975599, PMID:2062450, PMID:2136805, PMID:2790153, PMID:3203908, PMID:7532257, PMID:7581410, PMID:7662452, PMID:7731997, PMID:7796500, PMID:7848420, PMID:7848441, PMID:7874131, PMID:7883988, PMID:7909436, PMID:8186698, PMID:8250038, PMID:8254035, PMID:8268932, PMID:8281650, PMID:8282798, PMID:8335820, PMID:8343162, PMID:8435239, PMID:8483915, PMID:8490051, PMID:8514894, PMID:8533830, PMID:8614836, PMID:8655135, PMID:8981935, PMID:9001794, PMID:9062359, PMID:9105042, PMID:9140824, PMID:9140839, PMID:9154300, PMID:9172070, PMID:9476679, PMID:9544842, PMID:9822100, PMID:9826622, PMID:9829907, PMID:9835779, PMID:9874056, PMID:9884344, PMID:10024460, PMID:10065021, PMID:10328076, PMID:10521296, PMID:10563488, PMID:10567705, PMID:10662815, PMID:10725281, PMID:10750581, PMID:10862102, PMID:10882745, PMID:10900182, PMID:10957787, PMID:11113006, PMID:11133230, PMID:11186938, PMID:11196015, PMID:11227787, PMID:11424919, PMID:11447480, PMID:11498078, PMID:11723028, PMID:11748309, PMID:11861410, PMID:11861413, PMID:11904418, PMID:11968089, PMID:12081993, PMID:12084606, PMID:12117842, PMID:12379228, PMID:12473556, PMID:12566107, PMID:12707239, PMID:12818575, PMID:12820698, PMID:12881443, PMID:12951062, PMID:12953063, PMID:12974739, PMID:12975413, PMID:14520662, PMID:15000344, PMID:15001446, PMID:15008060, PMID:15010274, PMID:15136674, PMID:15322983, PMID:15358028, PMID:15483641, PMID:15519027, PMID:15528230, PMID:15556047, PMID:15563892, PMID:15699387, PMID:15757018, PMID:15769782, PMID:15856146, PMID:15858117, PMID:15940186, PMID:16115294, PMID:16137545, PMID:16199542, PMID:16253604, PMID:16267253, PMID:16335287, PMID:16352453, PMID:16504640, PMID:16630449, PMID:16715312, PMID:16754800, PMID:16858239, PMID:16918501, PMID:17019812, PMID:17095604, PMID:17097032, PMID:17118657, PMID:17125710, PMID:17180650, PMID:17192269, PMID:17336526, PMID:17351073, PMID:17372140, PMID:17438619, PMID:17476457, PMID:17495353, PMID:17548557, PMID:17560888, PMID:17599605, PMID:17612745, PMID:17703256, PMID:17947214, PMID:18029407, PMID:18076673, PMID:18175163, PMID:18258667, PMID:18374998, PMID:18383048, PMID:18403758, PMID:18409188, PMID:18414213, PMID:18506004, PMID:18533079, PMID:18555187, PMID:18660445, PMID:18761664, PMID:18953637, PMID:19149795, PMID:19150014, PMID:19293840, PMID:19336582, PMID:19412328, PMID:19645038, PMID:19651039, PMID:19659763, PMID:19666645, PMID:19808347, PMID:19808356, PMID:19854198, PMID:19864899, PMID:19880069, PMID:19913502, PMID:20031602, PMID:20031618, PMID:20031619, PMID:20086309, PMID:20215591, PMID:20298698, PMID:20350521, PMID:20359594, PMID:20376763, PMID:20378854, PMID:20394946, PMID:20428263, PMID:20439259, PMID:20474083, PMID:20530761, PMID:20624503, PMID:20641121, PMID:20646679, PMID:20664766, PMID:20733148, PMID:20800588, PMID:20817590, PMID:20818890, PMID:20819418, PMID:20952769, PMID:20965760, PMID:20975235, PMID:20981092, PMID:21127202, PMID:21216834, PMID:21239446, PMID:21302287, PMID:21310275, PMID:21425739, PMID:21426742, PMID:21483645, PMID:21499742, PMID:21511876, PMID:21520333, PMID:21551322, PMID:21642240, PMID:21674835, PMID:21750094, PMID:21769673, PMID:21799269, PMID:21811976, PMID:21817903, PMID:21832052, PMID:21835320, PMID:21839045, PMID:21896538, PMID:21943931, PMID:21958740, PMID:21959974, PMID:22112859, PMID:22155079, PMID:22177269, PMID:22260945, PMID:22267749, PMID:22337857, PMID:22429680, PMID:22455086, PMID:22464770, PMID:22555271, PMID:22763267, PMID:22765922, PMID:22784669, PMID:22811549, PMID:22857948, PMID:22859017, PMID:22918376, PMID:22958901, PMID:23054336, PMID:23074333, PMID:23140321, PMID:23153285, PMID:23197161, PMID:23233322, PMID:23281406, PMID:23283745, PMID:23290139, PMID:23299917, PMID:23318932, PMID:23349452, PMID:23396983, PMID:23403236, PMID:23408646, PMID:23426552, PMID:23508784, PMID:23549607, PMID:23674513, PMID:23690394, PMID:23707328, PMID:23711808, PMID:23751935, PMID:23782526, PMID:23785128, PMID:23794396, PMID:23798412, PMID:23816408, PMID:23861362, PMID:24033266, PMID:24047955, PMID:24093860, PMID:24111713, PMID:24119082, PMID:24183960, PMID:24215330, PMID:24298987, PMID:24344137, PMID:24498601, PMID:24503780, PMID:24510615, PMID:24558114, PMID:24621997, PMID:24664454, PMID:24691700, PMID:24704860, PMID:24721642, PMID:24749114, PMID:24793961, PMID:24829265, PMID:24835277, PMID:24865491, PMID:24888384, PMID:25031304, PMID:25078086, PMID:25086479, PMID:25125180, PMID:25132132, PMID:25163446, PMID:25163546, PMID:25228707, PMID:25239116, PMID:25342278, PMID:25351510, PMID:25447171, PMID:25448463, PMID:25467552, PMID:25524337, PMID:25558701, PMID:25569433, PMID:25611685, PMID:25637381, PMID:25649125, PMID:25666907, PMID:25714468, PMID:25741868, PMID:25931334, PMID:25935763, PMID:25937619, PMID:25961035, PMID:25979592, PMID:26025024, PMID:26162782, PMID:26187847, PMID:26199943, PMID:26220970, PMID:26223264, PMID:26332594, PMID:26383716, PMID:26446785, PMID:26458567, PMID:26467025, PMID:26468400, PMID:26497160, PMID:26573135, PMID:26627873, PMID:26688388, PMID:26743238, PMID:26846766, PMID:26912705, PMID:26914223, PMID:26936621, PMID:26969127, PMID:26969327, PMID:27000522, PMID:27066507, PMID:27082122, PMID:27153395, PMID:27161882, PMID:27224906, PMID:27247418, PMID:27282841, PMID:27387980, PMID:27483260, PMID:27532257, PMID:27574918, PMID:27576561, PMID:27600940, PMID:27662471, PMID:27688314, PMID:27707468, PMID:27737317, PMID:27831900, PMID:27841901, PMID:27854218, PMID:27884173, PMID:27885498, PMID:27930701, PMID:27974200, PMID:28005231, PMID:28045975, PMID:28087426, PMID:28138913, PMID:28152038, PMID:28193612, PMID:28202948, PMID:28241245, PMID:28246639, PMID:28265379, PMID:28296734, PMID:28356264, PMID:28396031, PMID:28408708, PMID:28416588, PMID:28420666, PMID:28449774, PMID:28481356, PMID:28492532, PMID:28518168, PMID:28566242, PMID:28588093, PMID:28606303, PMID:28615295, PMID:28640247, PMID:28687478, PMID:28699631, PMID:28704380, PMID:28750076, PMID:28771251, PMID:28771489, PMID:28790153, PMID:28794111, PMID:28798025, PMID:28807990, PMID:28855170, PMID:28878402, PMID:28971120, PMID:28986452, PMID:29029073, PMID:29030401, PMID:29101517, PMID:29121657, PMID:29169752, PMID:29178653, PMID:29212898, PMID:29255176, PMID:29300372, PMID:29343710, PMID:29343803, PMID:29447731, PMID:29540472, PMID:29661763, PMID:29666183, PMID:29709087, PMID:29773157, PMID:29867217, PMID:29875424, PMID:29907873, PMID:29915097, PMID:29970176, PMID:30022097, PMID:30105547, PMID:30165862, PMID:30206291, PMID:30217213, PMID:30275503, PMID:30297972, PMID:30311386, PMID:30511546, PMID:30868567, PMID:30871747, PMID:30972196, PMID:31112422, PMID:31199839, PMID:31333075, PMID:31568572, PMID:31638223, PMID:15556047 RGD:1580928 NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G MYL2 myosin light chain 2 IAGP 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 chr12:110,910,845...110,920,579
Ensembl chr12:110,910,819...110,921,443
JBrowse link
G MYL3 myosin light chain 3 IAGP 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 chr 3:46,857,872...46,863,444
Ensembl chr 3:46,835,111...46,882,172
JBrowse link
G MYLK2 myosin light chain kinase 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:11733062, PMID:22995991, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532 NCBI chr20:31,819,356...31,834,684
Ensembl chr20:31,819,308...31,834,689
JBrowse link
G MYOT myotilin EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy
CTD
ClinVar
PMID:15111675, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 5:137,867,282...137,887,851
Ensembl chr 5:137,867,858...137,887,851
Ensembl chr 5:137,867,858...137,887,851
JBrowse link
G MYOZ2 myozenin 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:17434779, PMID:19472918, PMID:23861362, PMID:24033266, PMID:25741868, PMID:27532257, PMID:28492532 NCBI chr 4:119,135,832...119,187,789
Ensembl chr 4:119,135,784...119,187,789
Ensembl chr 4:119,135,784...119,187,789
JBrowse link
G MYPN myopalladin IAGP 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 chr10:68,087,907...68,212,017
Ensembl chr10:68,106,117...68,212,017
JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chr22:50,508,218...50,524,780
Ensembl chr22:50,508,224...50,524,780
JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:30311386 NCBI chr16:15,643,267...15,726,353
Ensembl chr16:15,643,267...15,734,691
Ensembl chr16:15,643,267...15,734,691
JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,395
JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr18:9,102,642...9,134,341
Ensembl chr18:9,102,630...9,134,345
JBrowse link
G NEBL nebulette IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:28492532 NCBI chr10:20,779,973...21,293,050
Ensembl chr10:20,779,973...21,293,011
Ensembl chr10:20,779,973...21,293,011
Ensembl chr10:20,779,973...21,293,011
JBrowse link
G NEXN nexilin F-actin binding protein IAGP 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 chr 1:77,888,528...77,948,643
Ensembl chr 1:77,888,513...77,943,895
JBrowse link
G NOS1 nitric oxide synthase 1 ISO associated with Diabetes Mellitus, Experimental;protein:increased expression:cardiomyocyte RGD PMID:17721248 RGD:1642134 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO
IAGP
associated with Diabetes Mellitus, Experimental;protein:decreased expression:heart
associated with Beta-Thalassemia;DNA:repeats:intron:
RGD PMID:17589825, PMID:25699607 RGD:1642825, RGD:11533642 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NPPB natriuretic peptide B EXP CTD Direct Evidence: marker/mechanism CTD PMID:14745153, PMID:16127512 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
JBrowse link
G NSUN6 NOP2/Sun RNA methyltransferase 6 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr10:18,512,582...18,659,264
Ensembl chr10:18,545,561...18,659,285
JBrowse link
G OLR1 oxidized low density lipoprotein receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16055083 NCBI chr12:10,158,301...10,172,132
Ensembl chr12:10,158,301...10,172,138
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase onset ISO RGD PMID:23316298 RGD:7800701 NCBI chr 3:193,593,149...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
G PAH phenylalanine hydroxylase IAGP 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 chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,691...226,408,093
JBrowse link
G PDE2A phosphodiesterase 2A ISO associated with Liver Cirrhosis;mRNA:increased expression:cardiac myocyte: RGD PMID:19003918 RGD:10449440 NCBI chr11:72,576,141...72,674,422
Ensembl chr11:72,576,141...72,674,591
JBrowse link
G PDK2 pyruvate dehydrogenase kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chr17:50,094,737...50,112,152
Ensembl chr17:50,094,737...50,112,152
JBrowse link
G PDLIM3 PDZ and LIM domain 3 IAGP ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 4:185,500,660...185,535,507
Ensembl chr 4:185,500,660...185,535,612
Ensembl chr 4:185,500,660...185,535,612
JBrowse link
G PKP2 plakophilin 2 IAGP 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 chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,840
Ensembl chr12:32,790,745...32,896,840
JBrowse link
G PLN phospholamban IAGP 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 chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IMP RGD PMID:17310215 RGD:8694182 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:6143199 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP associated with Muscular Dystrophies RGD PMID:22549409 RGD:11069993 NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,902...131,523,806
JBrowse link
G PPARD peroxisome proliferator activated receptor delta EXP CTD Direct Evidence: marker/mechanism CTD PMID:20075336 NCBI chr 6:35,342,558...35,428,180
Ensembl chr 6:35,342,558...35,428,191
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISS MouseDO NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G PPP1R1A protein phosphatase 1 regulatory inhibitor subunit 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:20071777 NCBI chr12:54,579,246...54,588,659
Ensembl chr12:54,575,387...54,588,659
JBrowse link
G PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chr 1:56,645,314...56,715,335
Ensembl chr 1:56,645,314...56,715,335
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP ClinVar Annotator: match by term: PRKAG2 cardiac syndrome
ClinVar Annotator: match by term: Cardiomyopathy
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 chr 7:151,556,124...151,877,115
Ensembl chr 7:151,556,124...151,877,125
JBrowse link
G PRKCE protein kinase C epsilon EXP CTD Direct Evidence: marker/mechanism CTD PMID:15242976 NCBI chr 2:45,651,315...46,187,990
Ensembl chr 2:45,651,345...46,187,990
JBrowse link
G PSEN1 presenilin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29068127 NCBI chr14:73,136,436...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11978490 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,423
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP 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 chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,913
Ensembl chr12:112,418,351...112,509,913
JBrowse link
G RAD51 RAD51 recombinase treatment ISO RGD PMID:22384017 RGD:7240549 NCBI chr15:40,694,774...40,732,340
Ensembl chr15:40,694,774...40,732,340
JBrowse link
G RBM20 RNA binding motif protein 20 IAGP 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 chr10:110,641,933...110,839,471
Ensembl chr10:110,644,336...110,839,468
JBrowse link
G RHOJ ras homolog family member J EXP CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chr14:63,204,412...63,293,508
Ensembl chr14:63,204,114...63,293,508
JBrowse link
G RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough IAGP 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 chr  X:101,391,011...101,414,133
Ensembl chr  X:101,391,011...101,412,297
JBrowse link
G RUNX1 RUNX family transcription factor 1 IEP RGD PMID:12937148 RGD:1304428 NCBI chr21:35,372,507...35,580,764
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G RYR2 ryanodine receptor 2 IAGP 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 chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23257389, PMID:23861362, PMID:24033266, PMID:25741868, PMID:27435932, PMID:27711072, PMID:28492532, PMID:30662450 NCBI chr11:123,629,187...123,654,624
Ensembl chr11:123,629,187...123,655,244
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP 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 chr 3:38,548,061...38,649,687
Ensembl chr 3:38,548,057...38,649,687
Ensembl chr 3:38,548,057...38,649,687
JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy
CTD
ClinVar
PMID:16326995, PMID:30311386 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461
JBrowse link
G SGCA sarcoglycan alpha IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12746421, PMID:18285821, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr17:50,165,517...50,175,928
Ensembl chr17:50,164,214...50,175,928
JBrowse link
G SGCB sarcoglycan beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chr 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,482
Ensembl chr 4:52,020,706...52,038,482
JBrowse link
G SGCD sarcoglycan delta treatment
severity
IAGP
ISO
EXP
ClinVar Annotator: match by term: Cardiomyopathy
associated with Sgcd knockout
DNA:mutation:cds:p.Ser151Ala(mouse)
associated with limb-girdle muscular dystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:20675662, PMID:24033266, PMID:25281567, PMID:25741868, PMID:26084686, PMID:26467025, PMID:28492532, PMID:19218289, PMID:23695275, PMID:10481911 RGD:13605618, RGD:13605617, RGD:13605616 NCBI chr 5:155,728,636...156,767,788
Ensembl chr 5:155,870,344...156,767,788
JBrowse link
G SLC22A5 solute carrier family 22 member 5 IAGP DNA:frameshift mutation:cds:p.R282fsX295 (human) RGD PMID:15487009 RGD:1580608 NCBI chr 5:132,369,704...132,395,614
Ensembl chr 5:132,369,752...132,395,614
Ensembl chr 5:132,369,752...132,395,614
JBrowse link
G SLC30A5 solute carrier family 30 member 5 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 NCBI chr 5:69,093,993...69,131,069
Ensembl chr 5:69,093,949...69,131,069
JBrowse link
G SLC33A1 solute carrier family 33 member 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:155,821,024...155,855,358
Ensembl chr 3:155,821,024...155,854,456
JBrowse link
G SOD1 superoxide dismutase 1 ISO RGD PMID:15890620 RGD:1581220 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,622...31,668,931
Ensembl chr21:31,659,622...31,668,931
JBrowse link
G SOD2 superoxide dismutase 2 IAGP
EXP
ISO
associated with hemochromatosis;DNA:polymorphism: :p.A16V (human)
CTD Direct Evidence: therapeutic
CTD PMID:23536361, PMID:15591282, PMID:15890620 RGD:1580836, RGD:1581220 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:21340158, PMID:21387466, PMID:22585553, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,981,549...39,124,345
Ensembl chr 2:38,981,549...39,124,345
JBrowse link
G SRF serum response factor IDA RGD PMID:12874181 RGD:1581473 NCBI chr 6:43,171,269...43,181,506
Ensembl chr 6:43,171,269...43,181,506
JBrowse link
G SSUH2 ssu-2 homolog IAGP 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 chr 3:8,619,400...8,745,035
Ensembl chr 3:8,619,400...8,745,040
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO
EXP
CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:10618415, PMID:24448315, PMID:23619365 RGD:7495791 NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,482
Ensembl chr17:42,313,324...42,388,482
JBrowse link
G STRIP1 striatin interacting protein 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chr 1:110,031,577...110,054,641
Ensembl chr 1:110,031,577...110,074,641
JBrowse link
G TAF10 TATA-box binding protein associated factor 10 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr11:6,606,294...6,612,216
Ensembl chr11:6,606,294...6,612,539
JBrowse link
G TAZ tafazzin IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726
JBrowse link
G TCAP titin-cap IAGP 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 chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554
JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:28240702, PMID:28492532 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
JBrowse link
G THPO thrombopoietin EXP CTD Direct Evidence: therapeutic CTD PMID:16651473 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968
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 chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
JBrowse link
G TLR2 toll like receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15505089 NCBI chr 4:153,684,080...153,710,643
Ensembl chr 4:153,684,070...153,706,260
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G TMEM43 transmembrane protein 43 IAGP 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 chr 3:14,125,006...14,143,680
Ensembl chr 3:14,124,940...14,143,679
Ensembl chr 3:14,124,940...14,143,679
JBrowse link
G TMEM70 transmembrane protein 70 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18953340 NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783
JBrowse link
G TMPO thymopoietin IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362, PMID:24033266, PMID:28492532 NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,579...98,550,351
Ensembl chr12:98,515,579...98,550,351
JBrowse link
G TNF tumor necrosis factor treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:10716473, PMID:24441175 RGD:10450596 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:30165862 NCBI chr 3:52,451,100...52,454,041
Ensembl chr 3:52,451,100...52,454,041
JBrowse link
G TNNI3 troponin I3, cardiac type EXP
IAGP
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 chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773
JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr19:55,132,698...55,149,332
Ensembl chr19:55,132,698...55,149,206
JBrowse link
G TNNT2 troponin T2, cardiac type IAGP
EXP
ClinVar Annotator: match by term: Cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy
ClinVar
CTD
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 chr 1:201,359,014...201,377,828
Ensembl chr 1:201,359,008...201,377,764
JBrowse link
G TP53 tumor protein p53 ISO
EXP
CTD Direct Evidence: marker/mechanism
CTD Direct Evidence: therapeutic
CTD PMID:16013437, PMID:31618665 NCBI chr17:7,668,402...7,687,550
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TPM1 tropomyosin 1 IAGP 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 chr15:63,042,698...63,071,915
Ensembl chr15:63,042,632...63,071,915
JBrowse link
G TPM1-AS TPM1 antisense RNA IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 NCBI chr15:63,046,034...63,049,387
Ensembl chr15:63,046,034...63,049,387
JBrowse link
G TRIM63 tripartite motif containing 63 EXP CTD Direct Evidence: therapeutic CTD PMID:19168726 NCBI chr 1:26,051,301...26,067,633
Ensembl chr 1:26,051,301...26,068,436
Ensembl chr 1:26,051,301...26,068,436
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:21887725, PMID:23382873, PMID:25467552, PMID:25741868, PMID:26820365, PMID:27207958, PMID:28492532 NCBI chr19:49,157,792...49,211,841
Ensembl chr19:49,157,741...49,211,836
JBrowse link
G TSHR thyroid stimulating hormone receptor IDA RGD PMID:8796147 RGD:1580777 NCBI chr14:80,954,989...81,146,306
Ensembl chr14:80,954,989...81,146,302
JBrowse link
G TTN titin IAGP 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 chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18414213, PMID:23861362, PMID:24033266, PMID:24082139, PMID:24503780, PMID:25163546, PMID:25741868, PMID:26467025, PMID:26516846, PMID:28492532, PMID:29970176 NCBI chr 2:178,776,926...178,779,963
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:1745277, PMID:10462489, PMID:11310621, PMID:11717165, PMID:12145747, PMID:12669942, PMID:16084088, PMID:17344846, PMID:17444505, PMID:18414213, PMID:18948003, PMID:21617319, PMID:21810661, PMID:22335739, PMID:22475360, PMID:22577215, PMID:22577218, PMID:22577220, PMID:23033978, PMID:23299917, PMID:23396983, PMID:23418287, 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: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:25979592, PMID:26269091, PMID:26383259, PMID:26467025, PMID:26498160, PMID:26516846, PMID:26518445, PMID:26567375, PMID:26735901, PMID:27066507, PMID:27194543, PMID:27588451, PMID:27788187, PMID:27843123, PMID:27854229, PMID:27930701, PMID:28045975, PMID:28166282, PMID:28416588, PMID:28492532, PMID:28578331, PMID:28704380, PMID:28750076, PMID:28771489, PMID:28822653, PMID:29099038, PMID:29221435, PMID:30311386, PMID:30536954 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
G TTR transthyretin IAGP 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 chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
Ensembl chr18:31,557,009...31,598,833
JBrowse link
G TXN thioredoxin ISO CTD Direct Evidence: therapeutic CTD PMID:12221060 NCBI chr 9:110,243,810...110,256,507
Ensembl chr 9:110,243,810...110,256,507
JBrowse link
G TXNRD2 thioredoxin reductase 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28492532 NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820
JBrowse link
G UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:31883641 NCBI chr19:29,205,320...29,213,151
Ensembl chr19:29,205,320...29,213,151
JBrowse link
G UTS2 urotensin 2 ISO
IEP
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium RGD PMID:18280445, PMID:12791592 RGD:2306796, RGD:1580809 NCBI chr 1:7,846,345...7,913,615
Ensembl chr 1:7,843,083...7,853,512
JBrowse link
G UTS2R urotensin 2 receptor ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium RGD PMID:18280445 RGD:2306796 NCBI chr17:82,371,765...82,377,458
Ensembl chr17:82,371,400...82,375,586
Ensembl chr17:82,371,400...82,375,586
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224
JBrowse link
G VCL vinculin IAGP 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 chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:10229225 RGD:1580578 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
JBrowse link
G XDH xanthine dehydrogenase treatment ISO associated with Cachexia
associated with Insulin Resistance
RGD PMID:23751350, PMID:25889404 RGD:7247699, RGD:13208959 NCBI chr 2:31,334,320...31,414,777
Ensembl chr 2:31,334,321...31,414,742
JBrowse link
G YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta EXP CTD Direct Evidence: therapeutic CTD PMID:18342293 NCBI chr22:31,944,535...31,957,603
Ensembl chr22:31,944,522...31,957,603
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 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V ClinVar
OMIM
PMID:16055927, PMID:22797137, PMID:22981120, PMID:27928778, PMID:28492532, PMID:29625556 NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,709...180,989,774
JBrowse link
acute myocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD40 CD40 molecule IEP RGD PMID:9495297 RGD:13702889 NCBI chr20:46,118,242...46,129,858
Ensembl chr20:46,118,278...46,129,863
JBrowse link
alcoholic cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme IEA GAD PMID:15118671 RGD:1331525 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G AGT angiotensinogen EXP CTD Direct Evidence: marker/mechanism CTD PMID:22497828 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,702,523...230,714,122
JBrowse link
G NOS1 nitric oxide synthase 1 ISO protein:decreased expression:skeletal muscle, membrane RGD PMID:17607508 RGD:1642138 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO protein:increased expression:heart myocardium RGD PMID:18783396 RGD:2301868 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G RXRA retinoid X receptor alpha ISO RGD PMID:19791468 RGD:2317465 NCBI chr 9:134,326,455...134,440,585
Ensembl chr 9:134,317,098...134,440,585
JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO mRNA, protein:decreased expression:myocardium RGD PMID:21169901 RGD:9681464 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
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 IAGP
EXP
ClinVar Annotator: match by term: Andersen Tawil syndrome
ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
ClinVar Annotator: match by term: Andersen Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11371347, PMID:11841151, PMID:11861044, PMID:12086641, PMID:12148092, PMID:12163457, PMID:12689820, PMID:12796536, PMID:12909315, PMID:14522976, PMID:15757667, PMID:15831539, PMID:15851159, PMID:15852530, PMID:15911703, PMID:15922306, PMID:16217063, PMID:16419128, PMID:16533896, PMID:16541386, PMID:16571646, PMID:16818210, PMID:16834334, PMID:17074642, PMID:17074643, PMID:17119796, PMID:17211524, PMID:17221872, PMID:17324964, PMID:17341397, PMID:17399642, PMID:17399643, PMID:17568571, PMID:17582433, PMID:17655675, PMID:18313615, PMID:18452873, PMID:18554214, PMID:19041665, PMID:19111761, PMID:19201608, PMID:19570891, PMID:19931173, PMID:20382953, PMID:20647529, PMID:20713726, PMID:21493816, PMID:22002906, PMID:22186697, PMID:22581653, PMID:22589293, PMID:22806368, PMID:23516313, PMID:23595086, PMID:23631430, PMID:23644778, PMID:23867365, PMID:24025405, PMID:24033266, PMID:24047492, PMID:24211314, PMID:24383070, PMID:24561538, PMID:24721648, PMID:24861851, PMID:25284084, PMID:25410959, PMID:25415519, PMID:25741868, PMID:25847018, PMID:26230511, PMID:26322597, PMID:26467025, PMID:26937109, PMID:27145478, PMID:27920829, PMID:28003625, PMID:28024840, PMID:28341588, PMID:28492532, PMID:28501311, PMID:29017447, PMID:29874177, PMID:30311386, PMID:30516834 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
Ensembl chr17:70,168,673...70,180,044
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP ClinVar Annotator: match by term: Andersen Syndrome
ClinVar Annotator: match by term: Andersen Tawil syndrome
ClinVar PMID:20560207, PMID:21311022, PMID:22203740, PMID:24574546, PMID:25741868, PMID:28492532 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
JBrowse link
Apical Hypertrophic Cardiomyopathy and Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy ClinVar PMID:21686774 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy ClinVar
OMIM
PMID:21686774 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572
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 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:20890277, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532 NCBI chr12:21,797,389...21,941,863
Ensembl chr12:21,797,401...21,942,529
JBrowse link
G ACTN2 actinin alpha 2 IAGP DNA:polymorphism: :
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:25741868, PMID:11078270 RGD:13506947 NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631
JBrowse link
G AKAP9 A-kinase anchoring protein 9 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 7:91,940,862...92,112,908
Ensembl chr 7:91,940,867...92,110,673
Ensembl chr 7:91,940,867...92,110,673
JBrowse link
G ANK2 ankyrin 2 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G BAG3 BAG cochaperone 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy, arrhythmogenic right ventricular dysplasia ClinVar PMID:21898660, PMID:23861362, PMID:25741868, PMID:28492532, PMID:29382405 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,370...119,677,819
Ensembl chr10:119,651,370...119,677,819
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362, PMID:25447171, PMID:25661095, PMID:25741868, PMID:28492532 NCBI chr12:1,969,552...2,697,950
Ensembl chr12:1,970,786...2,697,950
JBrowse link
G CACNA1C-AS1 CACNA1C antisense RNA 1 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362, PMID:25447171, PMID:25661095, PMID:25741868, PMID:28492532 NCBI chr12:2,676,001...2,691,157
Ensembl chr12:2,676,001...2,691,200
JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chr10:18,140,424...18,545,881
Ensembl chr10:18,140,677...18,543,557
Ensembl chr10:18,140,677...18,543,557
JBrowse link
G CALR3 calreticulin 3 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:17655857, PMID:23861362, PMID:28492532 NCBI chr19:16,479,061...16,496,167
Ensembl chr19:16,479,057...16,496,192
Ensembl chr19:16,479,057...16,496,192
JBrowse link
G CDH2 cadherin 2 IAGP DNA:missense mutations:cds:c.686A>C(p.Q229P), c.1219G>A (p.D407N)(human)
DNA:mutation:cds:c.1219G>A(p.D407N)(human)
RGD PMID:28280076, PMID:28326674 RGD:13524622, RGD:13524623 NCBI chr18:27,932,878...28,177,130
Ensembl chr18:27,932,879...28,177,946
Ensembl chr18:27,932,879...28,177,946
JBrowse link
G DES desmin IAGP DNA:mutation:cds:c.1203G>C (p.E401D)(human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:24033266, PMID:25179549, PMID:25741868, PMID:28492532, PMID:29212896 RGD:13525009 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,734
JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:31,119,219...33,339,460
Ensembl chr  X:31,097,677...33,339,441
JBrowse link
G DSC2 desmocollin 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: 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 chr18:31,058,840...31,102,421
Ensembl chr18:31,058,840...31,102,522
JBrowse link
G DSCAS DSC1/DSC2 antisense RNA IAGP ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar NCBI chr18:31,101,588...31,162,789
Ensembl chr18:31,101,583...31,162,789
JBrowse link
G DSG2 desmoglein 2 IAGP 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 chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008
JBrowse link
G DSG2-AS1 DSG2 antisense RNA 1 IAGP 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:16025435, PMID:16773573, PMID:16774985, PMID:17105751, PMID:17372169, PMID:18382419, PMID:18678517, PMID:18813333, PMID:19039334, PMID:19863551, PMID:20031616, PMID:20031617, PMID:20708101, PMID:20829228, PMID:20857253, PMID:20864495, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24503780, PMID:25087486, PMID:25172079, PMID:25213555, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr18:31,542,146...31,556,911
Ensembl chr18:31,542,146...31,556,948
JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
ClinVar PMID:10395892, PMID:10594734, PMID:11063735, 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, PMID:12875771 RGD:1580890 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G FHL2 four and a half LIM domains 2 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 2:105,357,712...105,438,529
Ensembl chr 2:105,357,712...105,438,513
JBrowse link
G GJA1 gap junction protein alpha 1 IEP protein:altered expression:ventricle
protein:decreased expression:buccal mucosa
RGD PMID:23178689, PMID:26850880 RGD:11352402, RGD:13592599 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
JBrowse link
G IFT43 intraflagellar transport 43 IAGP ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
JBrowse link
G IL6R interleukin 6 receptor IEP protein:increased expression:serum RGD PMID:21859801 RGD:10402826 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
JBrowse link
G JUP junction plakoglobin IAGP
IEP
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
protein:altered expression:ventricle
ClinVar PMID:24033266, PMID:24884844, PMID:25741868, PMID:28098346, PMID:28492532, PMID:23178689 RGD:11352402 NCBI chr17:41,754,608...41,786,711
Ensembl chr17:41,754,604...41,786,931
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:9328483, PMID:9354783, PMID:9354802, PMID:9445165, PMID:10400998, PMID:10428953, PMID:10973849, PMID:11320260, PMID:11874988, PMID:12566567, PMID:15840476, PMID:16818210, PMID:19008479, PMID:19340287, PMID:19521339, PMID:19716085, PMID:22166941, PMID:22581653, PMID:23124029, PMID:23510998, PMID:23631430, PMID:24033266, PMID:24400172, PMID:24561134, PMID:24606995, PMID:25637381, PMID:25741868, PMID:26187847, PMID:28176637, PMID:28492532 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,210
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:15176425, PMID:16244680, PMID:22402334, PMID:22581653, PMID:25741868, PMID:28492532 NCBI chr 7:150,944,956...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr 6:112,107,931...112,254,722
Ensembl chr 6:112,107,931...112,254,939
JBrowse link
G LDB3 LIM domain binding 3 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:23861362, PMID:24033266, PMID:25741868 NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,668,507...86,736,072
Ensembl chr10:86,668,507...86,736,072
JBrowse link
G LMNA lamin A/C IAGP DNA:duplication:cds:c.418_438dup (human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:22224630, PMID:22266370, PMID:22464770, PMID:23183350, PMID:23853504, PMID:24033266, PMID:24503780, PMID:24846508, PMID:25741868, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27884249, PMID:28492532, PMID:29149195, PMID:29237675, PMID:30165862, PMID:30311386, PMID:30402260, PMID:30765282, PMID:25837155 RGD:11056513 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G MHRT myosin heavy chain associated RNA transcript IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362, PMID:24033266, PMID:24093860, PMID:24793961, PMID:25031304, PMID:25351510, PMID:25741868, PMID:27247418, PMID:27532257, PMID:28492532, PMID:28640247, PMID:28771489, PMID:29875424, PMID:30297972 NCBI chr14:23,415,450...23,417,595 JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:23861362, PMID:24033266, PMID:24093860, PMID:24793961, PMID:25031304, PMID:25351510, PMID:25741868, PMID:27247418, PMID:27532257, PMID:28492532, PMID:28640247, PMID:28771489, PMID:29875424, PMID:30297972 NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G MYL2 myosin light chain 2 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:23861362, PMID:25741868, PMID:28492532, PMID:28611029 NCBI chr12:110,910,845...110,920,579
Ensembl chr12:110,910,819...110,921,443
JBrowse link
G MYOM1 myomesin 1 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr18:3,066,807...3,220,108
Ensembl chr18:3,066,807...3,220,108
Ensembl chr18:3,066,807...3,220,108
JBrowse link
G MYPN myopalladin IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chr10:68,087,907...68,212,017
Ensembl chr10:68,106,117...68,212,017
JBrowse link
G PDLIM3 PDZ and LIM domain 3 ISS MouseDO NCBI chr 4:185,500,660...185,535,507
Ensembl chr 4:185,500,660...185,535,612
Ensembl chr 4:185,500,660...185,535,612
JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
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, PMID:15489853, PMID:16567567 RGD:1580873, RGD:1580872 NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,840
Ensembl chr12:32,790,745...32,896,840
JBrowse link
G PPP1R13L protein phosphatase 1 regulatory subunit 13 like ISS MouseDO NCBI chr19:45,379,634...45,406,361
Ensembl chr19:45,379,638...45,406,349
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,913
Ensembl chr12:112,418,351...112,509,913
JBrowse link
G RBM20 RNA binding motif protein 20 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:23396983, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26498160, PMID:26656175, PMID:27296017, PMID:28492532, PMID:30775854 NCBI chr10:110,641,933...110,839,471
Ensembl chr10:110,644,336...110,839,468
JBrowse link
G RYR2 ryanodine receptor 2 susceptibility IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
ClinVar PMID: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, PMID:11159936, PMID:8589694 RGD:1599243, RGD:1578810 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP
IEP
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
protein:altered expression:ventricle
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: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, PMID:23178689 RGD:11352402 NCBI chr 3:38,548,061...38,649,687
Ensembl chr 3:38,548,057...38,649,687
Ensembl chr 3:38,548,057...38,649,687
JBrowse link
G SGCA sarcoglycan alpha IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chr17:50,165,517...50,175,928
Ensembl chr17:50,164,214...50,175,928
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP 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 chr 2:38,981,549...39,124,868
Ensembl chr 2:38,981,549...39,124,345
Ensembl chr 2:38,981,549...39,124,345
JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP 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
ClinVar PMID:23861362, PMID:25637381, PMID:25741868, PMID:28492532, PMID:7951245 RGD:1578811 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
JBrowse link
G TMEM43 transmembrane protein 43 IAGP ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar 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, PMID:10631146 RGD:1579676 NCBI chr 3:14,125,006...14,143,680
Ensembl chr 3:14,124,940...14,143,679
Ensembl chr 3:14,124,940...14,143,679
JBrowse link
G TMPO thymopoietin IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:23861362, PMID:24033266, PMID:24375709, PMID:25741868, PMID:28074886, PMID:28492532, PMID:30327538 NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,579...98,550,351
Ensembl chr12:98,515,579...98,550,351
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP 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 chr19:49,157,792...49,211,841
Ensembl chr19:49,157,741...49,211,836
JBrowse link
G TTN titin IAGP 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 chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:178,776,926...178,779,963
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:18414213, PMID:23861362, PMID:24033266, PMID:25589632, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28750076, PMID:30311386 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor IAGP ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:18414213, PMID:19434073, PMID:21047201, PMID:22992668, PMID:23400628, PMID:25741868, PMID:28448657 NCBI chr 3:14,145,145...14,178,601
Ensembl chr 3:14,145,147...14,178,783
Ensembl chr 3:14,145,147...14,178,783
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 IAGP 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 chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008
JBrowse link
G PLEC plectin IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 8:143,915,153...143,976,800
Ensembl chr 8:143,915,147...143,976,734
JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25637381 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar
OMIM
PMID:12529708, PMID:15639475, PMID:25741868, PMID:25835445, PMID:28492532 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
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 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
ClinVar
OMIM
PMID:2040044, 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:19151369, PMID:19279339, 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:22036071, PMID:22214898, PMID:22458570, PMID:23071725, PMID:23178689, PMID:23299917, PMID:23381804, PMID:23396983, PMID:23514727, PMID:23671136, PMID:23810883, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23871674, PMID:23871885, PMID:23889974, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24082139, PMID:24125834, PMID:24238504, PMID:24436435, PMID:24503780, PMID:24585727, PMID:24704780, PMID:25059832, PMID:25087486, PMID:25172079, PMID:25174650, PMID:25213555, PMID:25332820, PMID:25351510, PMID:25445213, PMID:25525159, PMID:25637381, PMID:25741868, PMID:25765472, PMID:25820315, PMID:25877686, PMID:26112015, PMID:26138720, PMID:26230511, PMID:26633542, PMID:26656175, PMID:26822237, PMID:26899768, PMID:27005929, PMID:27055156, PMID:27114410, PMID:27194543, PMID:27532257, PMID:27930701, PMID:28255936, PMID:28283360, PMID:28341588, PMID:28416588, PMID:28454995, PMID:28471438, PMID:28472724, PMID:28492532, PMID:28567303, PMID:28578331, PMID:28600387, PMID:28818065, PMID:29062102, PMID:29178656, PMID:29247119, PMID:29773157, PMID:30311386, PMID:30454721, PMID:30533233, PMID:30615648, PMID:30790397, PMID:30885746, PMID:30985088, PMID:30993396 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008
JBrowse link
G DSG2-AS1 DSG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
ClinVar PMID:16025435, PMID:16773573, PMID:16774985, PMID:17105751, PMID:17372169, PMID:18382419, PMID:18678517, PMID:18813333, PMID:19039334, PMID:19863551, PMID:20031616, PMID:20031617, PMID:20708101, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:21397041, PMID:21606390, PMID:21606396, PMID:23299917, PMID:23381804, PMID:23514727, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24503780, PMID:25087486, PMID:25172079, PMID:25174650, PMID:25213555, PMID:25637381, PMID:25741868, PMID:26633542, PMID:26656175, PMID:27005929, PMID:27114410, PMID:27532257, PMID:28454995, PMID:28492532, PMID:28567303, PMID:29247119, PMID:30311386, PMID:30615648 NCBI chr18:31,542,146...31,556,911
Ensembl chr18:31,542,146...31,556,948
JBrowse link
G TTR transthyretin IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 ClinVar PMID:28492532 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
Ensembl chr18:31,557,009...31,598,833
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 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA
ClinVar
OMIM
PMID:7971964, PMID:17033975, PMID:17186466, PMID:17363426, PMID:17963498, PMID:18382419, PMID:18678517, PMID:18957847, PMID:20031616, PMID:20031617, PMID:20152563, PMID:20197793, PMID:20400443, PMID:20646679, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:21062920, PMID:21220045, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21822014, PMID:21859740, PMID:22722193, PMID:23147450, PMID:23292937, PMID:23299917, PMID:23396983, PMID:23414727, PMID:23514727, PMID:23757202, PMID:23812740, PMID:23826350, PMID:23861362, PMID:23863954, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24503780, PMID:24704780, PMID:24967631, PMID:25163546, PMID:25351510, PMID:25390934, PMID:25447171, PMID:25516398, PMID:25569433, PMID:25637381, PMID:25741868, PMID:25819062, PMID:25820315, PMID:26138720, PMID:26498160, PMID:26656175, PMID:26780541, PMID:27000522, PMID:27153395, PMID:27532257, PMID:27884173, PMID:27930701, PMID:28153106, PMID:28255936, PMID:28471438, PMID:28492532, PMID:28600387, PMID:28798025, PMID:29032884, PMID:29178656, PMID:29367541, PMID:29802319, PMID:30311386, PMID:31333075, PMID:31568572 NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,840...31,102,522
JBrowse link
G DSCAS DSC1/DSC2 antisense RNA IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11
ClinVar PMID:20864495, PMID:21636032, PMID:23911551, PMID:24033266, PMID:24704780, PMID:25351510, PMID:25741868, PMID:28492532 NCBI chr18:31,101,588...31,162,789
Ensembl chr18:31,101,583...31,162,789
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 IAGP ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 ClinVar
OMIM
PMID:19863551, PMID:20031617, PMID:20864495, PMID:21606396, PMID:21859740, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25351510, PMID:25616645, PMID:25741868, PMID:25765472, PMID:26073755, PMID:26220970, PMID:27532257, PMID:27662471, PMID:27930701, PMID:28341588, PMID:28492532, PMID:28831623, PMID:29247119, PMID:29334134, PMID:30311386 NCBI chr17:41,754,608...41,786,711
Ensembl chr17:41,754,604...41,786,931
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 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 13 ClinVar
OMIM
PMID:22421363, PMID:23136403, PMID:23375656, PMID:25050139, PMID:25741868, PMID:27535533, PMID:28416588, PMID:28492532 NCBI chr10:65,912,523...67,696,217
Ensembl chr10:65,912,523...67,696,195
JBrowse link
G LOC101928961 uncharacterized LOC101928961 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 13 ClinVar NCBI chr10:66,894,110...67,012,153 JBrowse link
G LRRTM3 leucine rich repeat transmembrane neuronal 3 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 13 ClinVar NCBI chr10:66,926,036...67,101,551
Ensembl chr10:66,926,036...67,101,551
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 IAGP ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14 OMIM
ClinVar
PMID:28280076 NCBI chr18:27,932,878...28,177,130
Ensembl chr18:27,932,879...28,177,946
Ensembl chr18:27,932,879...28,177,946
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 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2 ClinVar
OMIM
PMID:1572740, PMID:8589694, PMID:11159936, PMID:11208676, PMID:12106942, PMID:15364606, PMID:15364613, PMID:15466642, PMID:15544015, PMID:16239587, PMID:16272262, PMID:16769042, PMID:17062961, PMID:17558603, PMID:17875969, PMID:18326664, PMID:18483626, PMID:18752142, PMID:19345240, PMID:19362677, PMID:19398665, PMID:19597050, PMID:19709828, PMID:19926015, PMID:21315846, PMID:21616285, PMID:21659649, PMID:21964171, PMID:22221940, PMID:22222782, PMID:22373669, PMID:22374134, PMID:22396703, PMID:22677073, PMID:22787013, PMID:22828895, PMID:23022705, PMID:23204524, PMID:23286974, PMID:23396983, PMID:23595086, PMID:23820649, PMID:23861362, PMID:23871484, PMID:24025405, PMID:24033266, PMID:24055113, PMID: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:26498160, PMID:26633542, PMID:26656175, PMID:26704558, PMID:26743238, PMID:26899768, PMID:27054166, PMID:27153395, PMID:27194543, PMID:27229459, PMID:27231019, PMID:27538377, PMID:27727376, PMID:27756708, PMID:27930701, PMID:28237968, PMID:28256248, PMID:28404607, PMID:28422759, PMID:28449774, PMID:28492532, PMID:29247119, PMID:29453246, PMID:29511324, PMID:30086531, PMID:30311386 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
arrhythmogenic right ventricular dysplasia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPSA ribosomal protein SA ISS OMIM:604400 MouseDO NCBI chr 3:39,406,720...39,412,542
Ensembl chr 3:39,406,716...39,412,542
JBrowse link
G TMEM43 transmembrane protein 43 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 5
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5
ClinVar
OMIM
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 chr 3:14,125,006...14,143,680
Ensembl chr 3:14,124,940...14,143,679
Ensembl chr 3:14,124,940...14,143,679
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 IAGP ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8
ClinVar
OMIM
PMID:10395892, PMID:10594734, PMID:11063735, PMID:12373648, PMID:15210133, PMID:15941723, PMID:16628197, PMID:16774985, PMID:16917092, PMID:18382419, PMID:18632414, PMID:19095136, PMID:19279339, PMID:19558499, 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:23810894, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24448499, PMID:24503780, PMID:24704780, PMID:25163546, PMID:25196244, PMID:25225338, PMID:25227139, PMID:25351510, PMID:25447171, PMID:25550050, PMID:25569433, PMID:25616645, PMID:25637381, PMID:25661095, PMID:25676813, PMID:25691752, PMID:25693453, PMID:25741868, PMID:25820315, PMID:26073755, PMID:26138720, PMID:26230511, PMID:26314686, PMID:26332594, PMID:26383259, PMID:26399581, PMID:26498160, PMID:26569459, PMID:26585738, PMID:26604139, PMID:26656175, PMID:26743238, PMID:26833927, PMID:26850880, PMID:26899768, PMID:27097650, PMID:27153395, PMID:27329731, PMID:27435932, PMID:27532257, PMID:27707468, PMID:27831900, PMID:27884173, PMID:27930701, PMID:28074886, PMID:28087426, PMID:28152038, PMID:28254189, PMID:28255936, PMID:28301460, PMID:28341588, PMID:28416588, PMID:28442525, PMID:28473349, PMID:28492532, PMID:28527814, PMID:28588093, PMID:28759816, PMID:28798025, PMID:29062697, PMID:29420653, PMID:29511324, PMID:29750433, PMID:29759408, PMID:29915097, PMID:30311386, PMID:30382575, PMID:30820396, PMID:31333075, PMID:31568572 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
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 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,734
JBrowse link
G DNM1L dynamin 1 like IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507, PMID:28492532 NCBI chr12:32,679,296...32,745,650
Ensembl chr12:32,679,200...32,745,650
JBrowse link
G DSC2 desmocollin 2 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,840...31,102,522
JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868, PMID:25820315, PMID:28492532 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507, PMID:28492532 NCBI chr12:32,399,523...32,646,050
Ensembl chr12:32,399,529...32,646,050
JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:28492532 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
ClinVar
OMIM
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:20197793, PMID:20400443, PMID:20525856, PMID:20573160, PMID:20646679, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:20890277, PMID:21062920, PMID:21301620, PMID:21378009, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21822014, PMID:21859740, PMID:22019812, PMID:22035158, PMID:22036071, PMID:22170284, PMID:22177269, PMID:22214898, PMID:22781308, PMID:22889254, PMID:23137101, PMID:23178689, PMID:23270881, PMID:23299917, PMID:23347029, PMID:23354045, PMID:23396983, PMID:23486541, PMID:23514727, PMID:23671136, PMID:23810883, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23863954, PMID:23871674, PMID:23871885, PMID:23889974, PMID:23911551, PMID:23962865, PMID:23973953, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24200904, PMID:24200905, PMID:24352520, PMID:24503780, PMID:24558114, PMID:24585727, PMID:24632794, PMID:24704780, PMID:24784157, PMID:24832006, PMID:24967631, PMID:24981977, PMID:25087486, PMID:25157032, PMID:25163546, PMID:25196244, PMID:25326635, PMID:25332820, PMID:25351510, PMID:25395996, PMID:25445213, PMID:25447171, PMID:25525159, PMID:25616645, PMID:25637381, PMID:25650408, PMID:25676813, PMID:25741868, PMID:25741869, PMID:25765472, PMID:25820315, PMID:25825243, PMID:25857910, PMID:25979592, PMID:25998140, PMID:26220970, PMID:26230511, PMID:26264440, PMID:26332594, PMID:26406308, PMID:26498160, PMID:26656175, PMID:26676851, PMID:26701096, PMID:26743238, PMID:26850880, PMID:26887364, PMID:27000522, PMID:27005929, PMID:27030002, PMID:27066507, PMID:27085656, PMID:27114410, PMID:27122407, PMID:27153395, PMID:27335691, PMID:27532257, PMID:27711072, PMID:27727376, PMID:27930701, PMID:28069705, PMID:28166282, PMID:28166811, PMID:28177452, PMID:28253841, PMID:28255936, PMID:28301460, PMID:28341588, PMID:28359509, PMID:28416588, PMID:28431057, PMID:28471438, PMID:28492532, PMID:28518168, PMID:28588093, PMID:28600387, PMID:28611399, PMID:28705875, PMID:28807990, PMID:29038103, PMID:29099038, PMID:29128982, PMID:29178656, PMID:29247119, PMID:29288195, PMID:29497013, PMID:29511324, PMID:29540472, PMID:29582136, PMID:29802319, PMID:29940860, PMID:29997227, PMID:30279520, PMID:30311386, PMID:30354609, PMID:30445427, PMID:30562116, PMID:30615648, PMID:30656044, PMID:30662450, PMID:30677492, PMID:30764827, PMID:30765282, PMID:30790397, PMID:30821013, PMID:31333075, PMID:31539150, PMID:31568572 NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,840
Ensembl chr12:32,790,745...32,896,840
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar PMID:14519435, PMID:24033266, PMID:24503780, PMID:25741868, PMID:27532257, PMID:28492532 NCBI chr 7:151,556,124...151,877,115
Ensembl chr 7:151,556,124...151,877,125
JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G TTN titin IAGP 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 chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP 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 chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507, PMID:28492532 NCBI chr12:32,725,247...32,756,458
Ensembl chr12:32,727,490...32,755,897
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 IAGP ClinVar Annotator: match by term: Atrial standstill 1 OMIM
ClinVar
PMID:9588401, PMID:16790700, PMID:21921585, PMID:22199024, PMID:22713807, PMID:22912587, PMID:24060583, PMID:25205790, PMID:25741868, PMID:26137477, PMID:26279651, PMID:27930557, PMID:28457700, PMID:28492532 NCBI chr 1:147,756,199...147,781,127
Ensembl chr 1:147,756,199...147,773,362
JBrowse link
G NPPA natriuretic peptide A EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP 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 chr 3:38,548,061...38,649,687
Ensembl chr 3:38,548,057...38,649,687
Ensembl chr 3:38,548,057...38,649,687
JBrowse link
atrial standstill 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC114827827 VISTA enhancer hs2123 IAGP ClinVar Annotator: match by term: Atrial standstill 2 ClinVar PMID:6225642, PMID:23275345 NCBI chr 1:11,846,819...11,848,609 JBrowse link
G NPPA natriuretic peptide A IAGP ClinVar Annotator: match by term: Atrial standstill 2 ClinVar
OMIM
PMID:6225642, PMID:23275345 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
JBrowse link
G NPPA-AS1 NPPA antisense RNA 1 IAGP ClinVar Annotator: match by term: Atrial standstill 2 ClinVar PMID:6225642, PMID:23275345 NCBI chr 1:11,840,319...11,847,616 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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 22 ClinVar
OMIM
PMID:11167014, PMID:11468689, PMID:12687499, PMID:15123708, PMID:18212818, PMID:18348273, PMID:24033266, PMID:25741868, PMID:26445815, PMID:26467025, PMID:28492532 NCBI chr 6:75,749,203...75,919,537
Ensembl chr 6:75,749,192...75,919,537
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 IDA protein:increased degradation:skeletal muscle RGD PMID:15833425 RGD:11073211 NCBI chr 3:49,468,703...49,535,618
Ensembl chr 3:49,468,703...49,535,618
JBrowse link
G SACS sacsin molecular chaperone IAGP ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr13:23,328,827...23,433,728
Ensembl chr13:23,328,826...23,433,740
JBrowse link
G SGCA sarcoglycan alpha treatment IAGP
IDA
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2D
ClinVar Annotator: match by term: Duchenne-like autosomal recessive muscular dystrophy, type 2
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D
ClinVar Annotator: match by term: Sarcoglycanopathy
ClinVar Annotator: match by term: Sarcoglycanopathies
ClinVar
OMIM
PMID:7657792, PMID:7663524, PMID:7668821, PMID:8069911, PMID:8528203, PMID:8866424, PMID:9032047, PMID:9153448, PMID:9192266, PMID:9266733, PMID:9455986, PMID:9585331, PMID:10842281, PMID:10942431, PMID:10993494, PMID:11121445, PMID:11475588, PMID:11693784, PMID:12075495, PMID:12566530, PMID:12746421, PMID:14595658, PMID:15298081, PMID:15736300, PMID:15833425, PMID:16616845, PMID:16778590, PMID:16787395, PMID:17562833, PMID:17994539, PMID:18252745, PMID:18285821, PMID:18414213, PMID:18421900, PMID:18535179, PMID:18996010, PMID:19781108, PMID:19798725, PMID:21031578, PMID:21856579, PMID:22095924, PMID:22303798, PMID:24033266, PMID:24464767, PMID:24565866, PMID:24742800, PMID:25046369, PMID:25135358, PMID:25214167, PMID:25741868, PMID:26404900, PMID:26453141, PMID:26467025, PMID:26916285, PMID:26934379, PMID:26944168, PMID:27066551, PMID:27120200, PMID:27363342, PMID:28403181, PMID:28492532, PMID:29351619, PMID:30107846, PMID:30311386, PMID:30703231, PMID:30764848, PMID:17653106 RGD:13605612 NCBI chr17:50,165,517...50,175,928
Ensembl chr17:50,164,214...50,175,928
JBrowse link
G SGCG sarcoglycan gamma IAGP ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162
Ensembl chr13:23,180,979...23,325,162
JBrowse link
G TUBA1A tubulin alpha 1a IAGP ClinVar Annotator: match by term: ADHALINOPATHY, PRIMARY ClinVar PMID:18414213, PMID:18728072, PMID:20466733, PMID:25741868, PMID:30744660 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,795...49,189,080
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 FPGT-TNNI3K FPGT-TNNI3K readthrough IAGP ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy ClinVar PMID:24925317, PMID:25741868, PMID:29355681, PMID:30010057 NCBI chr 1:74,198,242...74,544,428
Ensembl chr 1:74,198,235...74,544,393
JBrowse link
G LMNA lamin A/C IAGP DNA:missense mutations:cds:multiple (human) RGD PMID:10580070 RGD:11066902 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G LRRC53 leucine rich repeat containing 53 IAGP ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy ClinVar PMID:25741868, PMID:30010057 NCBI chr 1:74,468,980...74,540,227
Ensembl chr 1:74,469,878...74,512,614
JBrowse link
G TNNI3K TNNI3 interacting kinase IAGP ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy OMIM
ClinVar
PMID:24925317, PMID:25741868, PMID:25791106, PMID:29355681, PMID:30010057 NCBI chr 1:74,235,387...74,544,428
Ensembl chr 1:74,235,387...74,544,428
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin IAGP
EXP
ClinVar Annotator: match by term: Cardiomyopathy dilated with woolly hair and keratoderma
ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma
ClinVar Annotator: match by term: Carvajal syndrome
ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy, woolly hair, keratoderma
ClinVar
CTD
OMIM
PMID:8769422, PMID:10594734, PMID:11063735, PMID:11841538, PMID:15210133, PMID:15941723, PMID:16061754, PMID:16175511, PMID:16467215, PMID:16628197, PMID:16774985, PMID:16917092, PMID:18382419, PMID:18632414, PMID:19095136, PMID:19279339, PMID:19558499, 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:21193976, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21756917, PMID:21859740, PMID:22214898, PMID:22216297, PMID:22555271, PMID:22795705, PMID:22949226, PMID:23137101, PMID:23292937, PMID:23299917, PMID:23381804, PMID:23396983, PMID:23465283, PMID:23514727, PMID:23524727, PMID:23671136, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24440382, PMID:24448499, PMID:24503780, PMID:24704780, PMID:24825141, PMID:24967631, PMID:24981977, PMID:25157032, 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:26148547, PMID:26187847, PMID:26220970, PMID:26230511, PMID:26314686, PMID:26332594, PMID:26383259, PMID:26399581, PMID:26406308, PMID:26498160, PMID:26569459, PMID:26585738, PMID:26604139, PMID:26656175, PMID:26688388, PMID:26735901, PMID:26743238, PMID:26833927, PMID:26850880, PMID:26899768, PMID:27097650, PMID:27153395, PMID:27194543, PMID:27329731, PMID:27435932, PMID:27532257, PMID:27698334, PMID:27707468, PMID:27831900, PMID:27884173, PMID:28074886, PMID:28087426, PMID:28152038, PMID:28254189, PMID:28255936, PMID:28301460, PMID:28341588, PMID:28416588, PMID:28442525, PMID:28471438, PMID:28473349, PMID:28492532, PMID:28527814, PMID:28588093, PMID:28611029, PMID:28759816, PMID:28798025, PMID:28912206, PMID:29062697, PMID:29247119, PMID:29253866, PMID:29420653, PMID:29511324, PMID:29750433, PMID:29759408, PMID:29892087, PMID:29915097, PMID:30165862, PMID:30311386, PMID:30382575, PMID:30820396, PMID:30919684, PMID:31333075, PMID:31568572 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G LOC110121274 VISTA enhancer hs2191 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma ClinVar PMID:28492532 NCBI chr 6:7,560,927...7,562,502 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 IAGP ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:16253912, PMID:22581653, PMID:28492532 NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G CALM1 calmodulin 1 IAGP 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 chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
JBrowse link
G CASQ2 calsequestrin 2 IAGP
EXP
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar
CTD
PMID:19398665, PMID:21618644, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,700,021...115,768,714
Ensembl chr 1:115,700,021...115,768,714
JBrowse link
G DMPK DM1 protein kinase IAGP ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr19:45,769,709...45,782,490
Ensembl chr19:45,769,717...45,782,552
Ensembl chr19:45,769,717...45,782,552
JBrowse link
G DSG2 desmoglein 2 IAGP 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 chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008
JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:28492532 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 7:150,944,956...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 6:112,107,931...112,254,722
Ensembl chr 6:112,107,931...112,254,939
JBrowse link
G LMNA lamin A/C IAGP 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 chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar
OMIM
PMID:1572740,