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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.


show annotations for term's descendants           Sort by:
 
cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12166651, PMID:16563363, PMID:17245405, PMID:20474083, PMID:23103869, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26656175, PMID:28087566, PMID:28166811, PMID:28492532, PMID:29030401 NCBI chr 5:51,536,531...51,673,583
Ensembl chr 5:51,536,526...51,673,583
JBrowse link
G ACE2 angiotensin I converting enzyme 2 ISO CTD Direct Evidence: therapeutic CTD PMID:28445944 NCBI chr  X:12,099,849...12,152,204
Ensembl chr  X:12,099,853...12,151,275
JBrowse link
G ACTC1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9563954, PMID:10494087, PMID:10966831, PMID:11052860, PMID:12860912, PMID:14729850, PMID:15058760, PMID:16267253, PMID:16611632, PMID:17611253, PMID:17623677, PMID:17916152, PMID:17947298, PMID:18379140, PMID:18400036, PMID:18506004, PMID:18519860, PMID:18801786, PMID:19184181, PMID:19467449, PMID:19799913, PMID:20497191, PMID:20965760, PMID:21297463, PMID:21524215, PMID:21551322, PMID:21622575, PMID:22555271, PMID:22590617, PMID:23054336, PMID:23283745, PMID:24033266, PMID:24736382, PMID:25163546, PMID:25741868, PMID:27532257, PMID:28138913, PMID:28408708, PMID:28416588, PMID:28492532, PMID:28798025 NCBI chr 1:136,281,119...136,286,551
Ensembl chr 1:136,281,167...136,286,545
JBrowse link
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:14567970, PMID:17097056, PMID:20022194, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24082139, PMID:24503780, PMID:25611685, PMID:25626705, PMID:25741868, PMID:26084686, PMID:26899768, PMID:27532257, PMID:27896284, PMID:28301460, PMID:28492532, PMID:28878402, PMID:28986455, PMID:29247119, PMID:30311386, PMID:30775854 NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,779
JBrowse link
G ADAM10 ADAM metallopeptidase domain 10 ISO RGD PMID:24244825 RGD:13702879 NCBI chr 1:113,289,480...113,407,940
Ensembl chr 1:113,289,197...113,413,569
JBrowse link
G ADCY5 adenylate cyclase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18029912, PMID:23536361 NCBI chr13:136,965,746...137,133,795
Ensembl chr13:136,973,000...137,135,349
JBrowse link
G ADCYAP1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20378996 NCBI chr 6:105,414,628...105,422,294
Ensembl chr 6:105,414,630...105,422,295
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing disease_progression
treatment
ISO associated with inflammation; mRNA, protein:increased expression:heart, plasma
protein:decreased expression:serum
RGD PMID:21278397, PMID:23723143 RGD:5686895, RGD:8695930 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G ADORA2A adenosine A2a receptor ISO CTD Direct Evidence: therapeutic CTD PMID:20363887 NCBI chr14:49,467,186...49,485,845
Ensembl chr14:49,468,862...49,485,841
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25193472 NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,032,782...150,035,591
JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:12145768 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362, PMID:25016126, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 9:71,895,615...72,054,898
Ensembl chr 9:71,895,630...72,054,897
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24448315
G ALPK3 alpha kinase 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28630369 NCBI chr 7:52,667,342...52,718,775 JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:15075330, PMID:15178757, PMID:16253912, PMID:17161064, PMID:17242276, PMID:18782775, PMID:22581653, PMID:22995991, PMID:23631430, PMID:23861362, PMID:24025405, PMID:24448499, PMID:25351510, PMID:25649125, PMID:25741868, PMID:26159999, PMID:26168218, PMID:27435932, PMID:28074886, PMID:28341588, PMID:28492532, PMID:28750076, PMID:30311386, PMID:30615648 NCBI chr 8:109,306,793...109,661,970 JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:19525294, PMID:19608031, PMID:22337857, PMID:22388920, PMID:22892539, PMID:23299917, PMID:23572067, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532 NCBI chr14:102,603,777...102,612,857
Ensembl chr14:102,603,777...102,612,839
JBrowse link
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,393...44,218,978
JBrowse link
G APP amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:29068127 NCBI chr13:189,434,854...189,716,120
Ensembl chr13:189,434,869...189,716,057
JBrowse link
G AQP2 aquaporin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12145768 NCBI chr 5:15,862,739...15,868,565
Ensembl chr 5:15,863,303...15,868,565
JBrowse link
G ATF3 activating transcription factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:25136830 NCBI chr 9:130,772,259...130,829,678
Ensembl chr 9:130,770,428...130,787,462
JBrowse link
G ATP5F1B ATP synthase F1 subunit beta treatment ISO mRNA:increased expression:heart (rat) RGD PMID:17229387 RGD:13792652 NCBI chr 5:21,984,750...21,992,393
Ensembl chr 5:21,984,580...21,992,407
JBrowse link
G AVP arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12145768 NCBI chr17:32,581,234...32,583,145
Ensembl chr17:32,581,230...32,583,427
JBrowse link
G AVPR2 arginine vasopressin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12145768 NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,644,630
JBrowse link
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:26467025, PMID:27042682, PMID:28492532 NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,510,293...129,533,996
JBrowse link
G BDKRB2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10614985 NCBI chr 7:117,438,622...117,472,005
Ensembl chr 7:117,438,543...117,472,003
JBrowse link
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:42,393,270...42,456,821
Ensembl chr 3:42,368,445...42,456,791
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:24728327, PMID:25741868, PMID:26260725, PMID:26530882, PMID:26580448, PMID:26848617 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362, PMID:25184293, PMID:25741868, PMID:26230511, PMID:26386135, PMID:27502440, PMID:28492532, PMID:29046645, PMID:30345660 NCBI chr 5:69,016,954...69,448,428 JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:20817017, PMID:23414114, PMID:23861362, PMID:23874304, PMID:24033266, PMID:24055113, PMID:24752249, PMID:25467552, PMID:25637381, PMID:25741868, PMID:27711072, PMID:28492532, PMID:30311386 NCBI chr10:44,321,954...44,887,410
Ensembl chr10:44,421,666...44,885,424
JBrowse link
G CALR3 calreticulin 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 2:61,105,307...61,136,060
Ensembl chr 2:61,105,303...61,134,961
JBrowse link
G CASQ2 calsequestrin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12034872, PMID:17881003, PMID:18543230, PMID:19709828, PMID:20530761, PMID:21063088, PMID:21454795, PMID:22421959, PMID:23861362, PMID:24025405, PMID:24033266, PMID:24503780, PMID:25163546, PMID:25651173, PMID:25691538, PMID:25741868, PMID:26671417, PMID:28074886, PMID:28404607, PMID:28492532, PMID:29032884 NCBI chr 4:104,918,204...104,984,019
Ensembl chr 4:104,918,501...104,999,787
JBrowse link
G CASR calcium sensing receptor ISO associated with Uremia RGD PMID:19188910 RGD:7205661 NCBI chr13:138,279,785...138,364,934
Ensembl chr13:138,280,363...138,364,253
JBrowse link
G CAT catalase ISO CTD Direct Evidence: therapeutic CTD PMID:11800590 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:09536092, PMID:11251997, PMID:11884389, PMID:14672715, PMID:15099591, PMID:15580566, PMID:16770780, PMID:17060380, PMID:17210839, PMID:17275750, PMID:17897828, PMID:18253147, PMID:19380584, PMID:19773168, PMID:20472890, PMID:22245016, PMID:22378279, PMID:22581547, PMID:22584458, PMID:22595201, PMID:23465283, PMID:23631430, PMID:23640888, PMID:23861362, PMID:24021552, PMID:24033266, PMID:24070816, PMID:24123366, PMID:24503780, PMID:24917393, PMID:25351510, PMID:25741868, PMID:25757662, PMID:26159999, PMID:26467025, PMID:26498160, PMID:27066573, PMID:27312022, PMID:27483260, PMID:27600940, PMID:27772553, PMID:27854218, PMID:27930701, PMID:28407228, PMID:28492532, PMID:28898996, PMID:29396561, PMID:29501670, PMID:29961767, PMID:30055862, PMID:30704477, PMID:31043699 NCBI chr13:65,117,868...65,130,886
Ensembl chr13:65,117,776...65,134,066
JBrowse link
G CBR1 carbonyl reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11016643 NCBI chr13:199,617,406...199,622,407
Ensembl chr13:199,617,318...199,622,405
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO protein:increased expression:myocardium RGD PMID:18806609 RGD:2307006 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CD36 CD36 molecule treatment ISO RGD PMID:17363697 RGD:11040927 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
JBrowse link
G CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12610310, PMID:12639993, PMID:16235537, PMID:17655857, PMID:18056057, PMID:19139388, PMID:21167350, PMID:21282613, PMID:21332051, PMID:22137083, PMID:22427649, PMID:22707725, PMID:23308118, PMID:23861362, PMID:24033266, PMID:25593317, PMID:25611685, PMID:25741868, PMID:25928149, PMID:26535225, PMID:26917049, PMID:27532257, PMID:28492532, PMID:28600387 NCBI chr 1:43,392,630...43,564,835
Ensembl chr 1:43,392,645...43,563,695
JBrowse link
G CHRM2 cholinergic receptor muscarinic 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18451336 NCBI chr18:12,455,139...12,600,314
Ensembl chr18:12,455,150...12,600,249
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:30311386 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL4A2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chr11:76,996,885...77,161,617
Ensembl chr11:76,997,516...77,161,615
JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 NCBI chr14:110,875,614...110,895,044
Ensembl chr14:110,875,818...110,894,948
JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:1560021, PMID:11013455, PMID:16483541, PMID:16793013, PMID:17116488, PMID:20171888, PMID:21920752, PMID:22106715, PMID:22995991, PMID:23194663, PMID:23299917, PMID:24033266, PMID:25208129, PMID:25741868, PMID:26265630, PMID:26694549, PMID:26961874, PMID:28492532 NCBI chr 9:39,638,505...39,643,530
Ensembl chr 9:39,638,502...39,643,530
JBrowse link
G CS citrate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14568902 NCBI chr 5:21,669,778...21,700,737
Ensembl chr 5:21,666,510...21,700,736
JBrowse link
G CSRP3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9039266, PMID:12507422, PMID:14567970, PMID:15781201, PMID:16352453, PMID:17084280, PMID:18505755, PMID:19035361, PMID:20044516, PMID:20474083, PMID:23299917, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24082139, PMID:24503780, PMID:25351510, PMID:25741868, PMID:26656175, PMID:27532257, PMID:28492532, PMID:28790153, PMID:30012424 NCBI chr 2:40,219,288...40,240,614
Ensembl chr 2:40,215,353...40,240,618
JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:14724127, PMID:15477095, PMID:16217025, PMID:16519886, PMID:16828798, PMID:16865695, PMID:17221859, PMID:17325244, PMID:17626518, PMID:18414213, PMID:18653338, PMID:19181099, PMID:20474083, PMID:21262226, PMID:21842594, PMID:22153487, PMID:22215463, PMID:22337857, PMID:23143191, PMID:23168288, PMID:23299917, PMID:23806086, PMID:23861362, PMID:24033266, PMID:24088041, PMID:24503780, PMID:25214167, PMID:25736269, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,103...121,435,424
JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 ISO RGD PMID:21220706 RGD:10400890 NCBI chr 4:452,890...463,665
Ensembl chr 4:452,861...466,883
JBrowse link
G DHCR7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28250423, PMID:28492532, PMID:28972118, PMID:29300326, PMID:30311386 NCBI chr 2:2,377,352...2,391,846
Ensembl chr 2:2,377,416...2,391,448
JBrowse link
G DMD dystrophin ISO CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Cardiomyopathy
CTD
ClinVar
PMID:12359139, PMID:17440445, PMID:18340010, PMID:20675662, PMID:23299917, PMID:24033266, PMID:24055113, PMID:25637381, PMID:25741868, PMID:26467025, PMID:26743743, PMID:28492532, PMID:28701297, PMID:29847600 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,223...29,181,689
JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,408...124,939,965
JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar PMID:7971964, PMID:17033975, PMID:17186466, PMID:17363426, PMID:17963498, PMID:18382419, PMID:18678517, PMID:18957847, PMID:19863551, PMID:20031616, PMID:20031617, PMID:20152563, PMID:20197793, PMID:20400443, PMID:20646679, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:21062920, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21822014, PMID:21859740, PMID:22722193, PMID:23147450, PMID:23292937, PMID:23299917, PMID:23396983, PMID:23757202, PMID:23812740, PMID:23826350, PMID:23861362, PMID:23863954, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24503780, PMID:24704780, PMID:24967631, PMID:25163546, PMID:25351510, PMID:25390934, PMID:25447171, PMID:25516398, PMID:25569433, PMID:25637381, PMID:25741868, PMID:25819062, PMID:26498160, PMID:26656175, PMID:26743238, PMID:26780541, PMID:27000522, PMID:27153395, PMID:27532257, PMID:27884173, PMID:27930701, PMID:28255936, PMID:28471438, PMID:28492532, PMID:28798025, PMID:29032884, PMID:29367541, PMID:29802319, PMID:30311386 NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,916,763...115,021,305
JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy
ClinVar PMID:16025435, PMID:16505173, PMID:16773573, PMID:16774985, PMID:17105751, PMID:17372169, PMID:18382419, PMID:18632414, PMID:18639457, PMID:18678517, PMID:18813333, PMID:19039334, PMID:19569224, PMID:19863551, PMID:20031616, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20197793, PMID:20400443, PMID:20603720, PMID:20708101, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:21220045, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21859740, PMID:22000064, PMID:22214898, PMID:22458570, PMID:23071725, PMID:23178689, PMID:23299917, PMID:23381804, PMID:23396983, PMID:23514727, PMID:23671136, PMID:23810883, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23871674, PMID:23871885, PMID:23889974, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24082139, PMID:24125834, PMID:24238504, PMID:24436435, PMID:24503780, PMID:24704780, PMID:25059832, PMID:25087486, PMID:25172079, PMID:25174650, PMID:25213555, PMID:25332820, PMID:25351510, PMID:25445213, PMID:25637381, PMID:25741868, PMID:25765472, PMID:25820315, PMID:25877686, PMID:26112015, PMID:26138720, PMID:26230511, PMID:26633542, PMID:26656175, PMID:26899768, PMID:27005929, PMID:27055156, PMID:27114410, PMID:27194543, PMID:27532257, PMID:27930701, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28454995, PMID:28471438, PMID:28492532, PMID:28567303, PMID:28578331, PMID:28600387, PMID:28818065, PMID:29062102, PMID:29178656, PMID:29773157, PMID:30311386, PMID:30454721, PMID:30533233, PMID:30615648, PMID:30790397, PMID:30885746, PMID:30985088, PMID:30993396, PMID:31333075, PMID:31568572 NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,252...115,452,473
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar PMID:10395892, PMID:11063735, PMID:11841538, PMID:15210133, PMID:15941723, PMID:16628197, PMID:16774985, PMID:16917092, PMID:18382419, PMID:18632414, PMID:19095136, PMID:19279339, PMID:19863551, PMID:19924139, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20400443, PMID:20435227, PMID:20525856, PMID:20716751, PMID:20829228, PMID:20864495, PMID:21062920, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21756917, PMID:21859740, PMID:22214898, PMID:22216297, PMID:22555271, PMID:22949226, PMID:23137101, PMID:23292937, PMID:23299917, PMID:23381804, PMID:23396983, PMID:23465283, PMID:23514727, PMID:23524727, PMID:23671136, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24440382, PMID:24448499, PMID:24503780, PMID:24704780, PMID:24825141, PMID:24967631, PMID:24981977, PMID:25163546, PMID:25196244, PMID:25225338, PMID:25227139, PMID:25344691, PMID:25351510, PMID:25447171, PMID:25516398, PMID:25525159, PMID:25550050, PMID:25569433, PMID:25616645, PMID:25637381, PMID:25661095, PMID:25676813, PMID:25691752, PMID:25693453, PMID:25741868, PMID:25765472, PMID:25820315, PMID:26073755, PMID:26138720, PMID:26220970, PMID:26230511, PMID:26332594, PMID:26383259, PMID:26399581, PMID:26406308, PMID:26498160, PMID:26569459, PMID:26585738, PMID:26656175, PMID:26688388, PMID:26743238, PMID:26899768, PMID:27097650, PMID:27153395, PMID:27329731, PMID:27435932, PMID:27532257, PMID:27707468, PMID:27884173, PMID:27930701, PMID:28074886, PMID:28087426, PMID:28254189, PMID:28255936, PMID:28301460, PMID:28341588, PMID:28416588, PMID:28442525, PMID:28471438, PMID:28473349, PMID:28492532, PMID:28527814, PMID:28611029, PMID:28759816, PMID:28798025, PMID:28912206, PMID:29253866, PMID:29420653, PMID:29511324, PMID:29750433, PMID:29759408, PMID:30165862, PMID:30311386, PMID:30382575, PMID:30820396, PMID:31333075, PMID:31568572 NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
G DTNA dystrobrevin alpha ISO ClinVar Annotator: match by term: Cardiomyopathy RGD
ClinVar
PMID:10559919, PMID:11238270, PMID:24033266, PMID:28492532 RGD:1580893, RGD:1580894 NCBI chr 6:118,333,069...118,753,516
Ensembl chr 6:118,333,733...118,753,513
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11589785 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:20474083, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:124,883,047...124,885,429 JBrowse link
G EP300 E1A binding protein p300 ISO protein:increased expression:heart left ventricle, nucleus (human) RGD PMID:20375365 RGD:7364750 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
JBrowse link
G EPG5 ectopic P-granules autophagy protein 5 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23222957 NCBI chr 1:95,493,779...95,616,794
Ensembl chr 1:95,498,717...95,616,755
JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16449733, PMID:16731534, PMID:17924179, PMID:17928571 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G FAS Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10716473, PMID:10920071, PMID:17943461 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FASLG Fas ligand (TNF superfamily, member 6) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16324756, PMID:17943461 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,475
JBrowse link
G FHL2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:17416352, PMID:24033266, PMID:25741868, PMID:26627873, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr 3:49,389,900...49,448,459
Ensembl chr 3:49,363,555...49,467,527
JBrowse link
G FKBP1B FKBP prolyl isomerase 1B ISO associated with Diabetes Mellitus, Experimental RGD PMID:19000375 RGD:2302065 NCBI chr 3:114,623,529...114,636,200
Ensembl chr 3:114,623,529...114,634,628
JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:16344347, PMID:16368217, PMID:17994539, PMID:18832576, PMID:21816046, PMID:24556424, PMID:25741868, PMID:26467025, PMID:26990548, PMID:28492532 NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,482...52,639,255
JBrowse link
G FKTN fukutin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:14627679, PMID:17878207, PMID:21102627, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:246,852,387...246,916,650 JBrowse link
G FLCN folliculin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chr12:61,029,186...61,045,400 JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr18:19,759,734...19,787,616
Ensembl chr18:19,759,738...19,787,618
JBrowse link
G GAA glucosidase alpha, acid ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25466677, PMID:25741868, PMID:27183828, PMID:28492532, PMID:29149851, PMID:31076647 NCBI chr12:2,315,807...2,339,867
Ensembl chr12:2,314,591...2,336,988
JBrowse link
G GLA galactosidase alpha ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:2393552, PMID:7504405, PMID:8411052, PMID:8807334, PMID:8875188, PMID:9100224, PMID:9452111, PMID:11668641, PMID:11828341, PMID:11914245, PMID:14635108, PMID:14680977, PMID:15776423, PMID:15806320, PMID:16232095, PMID:16533976, PMID:16595074, PMID:16754800, PMID:16773563, PMID:17040996, PMID:17532296, PMID:17804462, PMID:18057066, PMID:18154965, PMID:18205205, PMID:18297328, PMID:18596132, PMID:18830871, PMID:19373884, PMID:19621417, PMID:19823873, PMID:20031620, PMID:20110537, PMID:20122163, PMID:20360539, PMID:20464614, PMID:20716442, PMID:20821055, PMID:21092187, PMID:21229318, PMID:21517827, PMID:21549080, PMID:21598360, PMID:21683120, PMID:21890869, PMID:21946453, PMID:22205110, PMID:22226368, PMID:22437327, PMID:22551898, PMID:22682330, PMID:22805550, PMID:23109060, PMID:23219219, PMID:23306324, PMID:23393592, PMID:23430502, PMID:23430526, PMID:23677059, PMID:23922385, PMID:23935525, PMID:24033266, PMID:24082139, PMID:24365053, PMID:24380807, PMID:24386359, PMID:24395922, PMID:24582695, PMID:24661928, PMID:24784157, PMID:24829596, PMID:25040344, PMID:25078086, PMID:25179549, PMID:25382311, PMID:25468652, PMID:25611685, PMID:25637381, PMID:25741868, PMID:26252393, PMID:26305465, PMID:26415523, PMID:26866599, PMID:27142856, PMID:27532257, PMID:27554049, PMID:27595546, PMID:27832731, PMID:27931613, PMID:27979989, PMID:28082092, PMID:28299312, PMID:28377241, PMID:28409012, PMID:28430823, PMID:28492532, PMID:28596458, PMID:28646478, PMID:28799081, PMID:28941980, PMID:29215092, PMID:29330335, PMID:29631605, PMID:29867742, PMID:29982630, PMID:30311386, PMID:30569317, PMID:30773290, PMID:31291414, PMID:31449323, PMID:31566927, PMID:31654629, PMID:31907047, PMID:32418857, PMID:32531501 NCBI chr  X:83,024,582...83,032,273
Ensembl chr  X:83,023,903...83,032,284
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO mRNA:decreased expression:myocardium (rat) RGD PMID:20733562 RGD:13504856 NCBI chr14:110,608,422...110,635,825
Ensembl chr14:110,608,430...110,635,874
JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr13:18,126,471...18,176,669
Ensembl chr13:18,126,623...18,176,668
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:17008600 NCBI chr 2:5,209,435...5,227,543
Ensembl chr 2:5,209,436...5,227,748
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23623143, PMID:23861362, PMID:25145518, PMID:25145519, PMID:25642760, PMID:25741868, PMID:26467025, PMID:27173043, PMID:27182706, PMID:27659478, PMID:28104484, PMID:28182231, PMID:28254189, PMID:28341588, PMID:28492532 NCBI chr 7:60,010,396...60,052,258
Ensembl chr 7:60,010,482...60,053,823
JBrowse link
G HDAC8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chr  X:58,210,182...58,450,681 JBrowse link
G HFE homeostatic iron regulator treatment
no_association
ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.C282Y (human)
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.H63D (human)
RGD PMID:23861158 RGD:10755538 NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,768,741
JBrowse link
G HGF hepatocyte growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:16109756, PMID:18083897 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,437,087...98,513,156
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12967636 NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,527
JBrowse link
G HSPE1 heat shock protein family E (Hsp10) member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12967636 NCBI chr15:101,374,019...101,376,146
Ensembl chr15:101,373,788...101,376,162
JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO RGD PMID:22976834 RGD:10402865 NCBI chr 3:68,516,666...68,520,025
Ensembl chr 3:68,516,500...68,519,886
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 chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,925...137,690,666
JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7578376 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10716473 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G ILK integrin linked kinase ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 9:3,145,647...3,152,097
Ensembl chr 9:3,145,647...3,159,858
JBrowse link
G INSR insulin receptor ISO RGD PMID:11877471 RGD:1302524 NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,139
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:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860
JBrowse link
G ITGA7 integrin subunit alpha 7 treatment ISO RGD PMID:15632017 RGD:13601980 NCBI chr 5:21,126,565...21,150,875
Ensembl chr 5:21,126,565...21,148,776
JBrowse link
G ITGB1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chr10:56,078,393...56,130,608
Ensembl chr10:56,078,398...56,173,795
JBrowse link
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:22584458, PMID:23834499, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr17:46,590,302...46,665,326 JBrowse link
G JUP junction plakoglobin ISO Naxos disease, OMIM:601214 DNA:deletion:CDS:2157delTG
ClinVar Annotator: match by term: Cardiomyopathy
RGD
ClinVar
PMID:10902626, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 RGD:1600286 NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,211
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:8899564, PMID:9445165, PMID:10807545, PMID:12402336, PMID:14661677, PMID:14760488, PMID:15051636, PMID:15599693, PMID:16132053, PMID:16266404, PMID:16487223, PMID:16823764, PMID:16887036, PMID:16922724, PMID:17016049, PMID:17161064, PMID:17210839, PMID:18426444, PMID:19305408, PMID:19695459, PMID:20823649, PMID:21244686, PMID:21712262, PMID:22100668, PMID:22378279, PMID:22581653, PMID:23861362, PMID:24033266, PMID:24400172, PMID:24499369, PMID:24561134, PMID:25737393, PMID:25741868, PMID:26132555, PMID:26743238, PMID:28003625, PMID:28492532, PMID:29625280, PMID:30311386, PMID:30847666, PMID:30910390, PMID:31308327, PMID:31376648 NCBI chr13:198,051,281...198,059,444 JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:11207363, PMID:12414843, PMID:14504341, PMID:15037716, PMID:15212652, PMID:16449802, PMID:17395131, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 9:8,810,716...8,822,191
Ensembl chr 9:8,810,722...8,821,817
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:14661677, PMID:14678125, PMID:16556865, PMID:17161064, PMID:17210839, PMID:17470695, PMID:19841300, PMID:19862833, PMID:21185501, PMID:22581653, PMID:22677073, PMID:22949429, PMID:23571586, PMID:23861362, PMID:24033266, PMID:25741868, PMID:26498160, PMID:28492532 NCBI chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111
JBrowse link
G KLK1 kallikrein 1 ISO associated with Diabetes Mellitus, Experimental RGD PMID:15117887 RGD:1641802 NCBI chr 6:55,570,632...55,576,398
Ensembl chr 6:55,570,630...55,576,637
JBrowse link
G KRAS KRAS proto-oncogene, GTPase no_association ISO RGD PMID:24259500 RGD:11568677 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:17646580, PMID:20890277, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532, PMID:28798025, PMID:31333075, PMID:31568572 NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,446...78,224,365
JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23785128, PMID:24033266, PMID:25091525, PMID:25741868, PMID:27600940, PMID:28492532, PMID:28771489 NCBI chr  X:98,586,718...98,623,939
Ensembl chr  X:98,582,059...98,623,908
JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:11696561, PMID:14662268, PMID:15668942, PMID:17235623, PMID:17337483, PMID:17438622, PMID:18765652, PMID:19028670, PMID:19377068, PMID:19412328, PMID:20474083, PMID:20590677, PMID:21952291, PMID:22337857, PMID:23263837, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24503780, PMID:24647531, PMID:24668811, PMID:25041374, PMID:25208129, PMID:25326637, PMID:25616123, PMID:25741868, PMID:26350513, PMID:26467025, PMID:27618136, PMID:27884173, PMID:27896284, PMID:28349680, PMID:28492532, PMID:28798025, PMID:29032884 NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251
JBrowse link
G LDHA lactate dehydrogenase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15231041 NCBI chr 2:40,814,163...40,827,284
Ensembl chr 2:40,812,453...40,826,715
JBrowse link
G LIPC lipase C, hepatic type ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,679...113,604,306
JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:11207363, PMID:12414843, PMID:14504341, PMID:15037716, PMID:15212652, PMID:16449802, PMID:17395131, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 9:8,838,375...8,840,607
Ensembl chr 9:8,838,102...8,841,355
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:2007407, PMID:2280636, PMID:2526018, PMID:10080180, PMID:10580070, PMID:10587585, PMID:10612827, PMID:10655060, PMID:10739751, PMID:10810087, PMID:10868844, PMID:10999791, PMID:10999845, PMID:11078466, PMID:11102973, PMID:11136544, PMID:11180602, PMID:11503164, PMID:11561226, PMID:11792809, PMID:11799477, PMID:11897440, PMID:12015247, PMID:12057196, PMID:12075506, PMID:12196663, PMID:12376891, PMID:12467734, PMID:12467752, PMID:12628721, PMID:12629077, PMID:12647844, PMID:12702809, PMID:12716787, PMID:12768443, PMID:12788894, PMID:12920062, PMID:12927424, PMID:12927431, PMID:14597414, PMID:14607793, PMID:14615128, PMID:14627682, PMID:14749366, PMID:15060110, PMID:15140538, PMID:15205219, PMID:15298354, PMID:15372542, PMID:15475483, PMID:15770669, PMID:15919811, PMID:15965218, PMID:15998779, PMID:16174718, PMID:16181372, PMID:16278265, PMID:16364671, PMID:16407522, PMID:16415042, PMID:16478798, PMID:16585054, PMID:16809772, PMID:16825282, PMID:17107595, PMID:17250669, PMID:17250699, PMID:17334235, PMID:17347251, PMID:17377071, PMID:17536044, PMID:17612587, PMID:17711925, PMID:17848409, PMID:18035086, PMID:18396274, PMID:18414213, PMID:18478590, PMID:18549403, PMID:18585512, PMID:18604166, PMID:18728124, PMID:18795223, PMID:18796515, PMID:18926329, PMID:19011997, PMID:19084400, PMID:19201734, PMID:19318026, PMID:19418082, PMID:19424285, PMID:19427440, PMID:19432833, PMID:19524666, PMID:19589617, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19768759, PMID:19859838, PMID:19875404, PMID:19882644, PMID:20041886, PMID:20130076, PMID:20160190, PMID:20307303, PMID:20497714, PMID:20625965, PMID:20627339, PMID:20709679, PMID:20848652, PMID:20980393, PMID:21315846, PMID:21520333, PMID:21535365, PMID:21831885, PMID:21846512, PMID:21883346, PMID:21980471, PMID:22071332, PMID:22177269, PMID:22199124, PMID:22224630, PMID:22276265, PMID:22326558, PMID:22331516, PMID:22355414, PMID:22413764, PMID:22431096, PMID:22526018, PMID:22570643, PMID:22700598, PMID:22918509, PMID:23062543, PMID:23142632, PMID:23183350, PMID:23313286, PMID:23328570, PMID:23349452, PMID:23362510, PMID:23427149, PMID:23497705, PMID:23701190, PMID:23757202, PMID:23785128, PMID:23853504, PMID:23861362, PMID:23977161, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24169522, PMID:24237251, PMID:24375749, PMID:24386194, PMID:24503780, PMID:24623722, PMID:24642510, PMID:24721642, PMID:24768879, PMID:24794538, PMID:24846508, PMID:24943589, PMID:25025039, PMID:25049529, PMID:25163546, PMID:25214167, PMID:25286833, PMID:25324471, PMID:25351510, PMID:25367549, PMID:25448463, PMID:25469153, PMID:25617006, PMID:25637381, PMID:25741868, PMID:25823658, PMID:25873806, PMID:25982065, PMID:26084686, PMID:26183555, PMID:26332594, PMID:26383259, PMID:26383716, PMID:26404900, PMID:26467025, PMID:26498160, PMID:26573435, PMID:26602028, PMID:26662654, PMID:26752647, PMID:26899768, PMID:26900797, PMID:27000522, PMID:27153395, PMID:27199538, PMID:27447704, PMID:27532257, PMID:27633507, PMID:27723096, PMID:27813223, PMID:27841971, PMID:27884249, PMID:27886618, PMID:27896052, PMID:27896284, PMID:27919367, PMID:28069705, PMID:28074886, PMID:28087566, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28518168, PMID:28531892, PMID:28663758, PMID:28679633, PMID:28686329, PMID:28688748, PMID:28701371, PMID:28785654, PMID:28790152, PMID:28807990, PMID:28874324, PMID:29078011, PMID:29095976, PMID:29237675, PMID:29237690, PMID:29382405, PMID:29386531, PMID:29432544, PMID:29693488, PMID:29791652, PMID:29970176, PMID:30311386, PMID:30420677, PMID:30488537 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G LOC100522678 cytochrome b-c1 complex subunit Rieske, mitochondrial ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:31883641 NCBI chr 6:39,366,761...39,373,876
Ensembl chr 6:39,364,887...39,373,873
JBrowse link
G LOC100524391 putative methyltransferase NSUN6 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr10:44,884,179...44,958,024
Ensembl chr10:44,882,449...44,976,445
JBrowse link
G LOC100736818 cardiotrophin-1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:17,539,927...17,545,250
Ensembl chr 3:17,540,499...17,545,240
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
G LPL lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10533957 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:96,474,510...96,590,706
Ensembl chr 3:96,474,549...96,595,143
JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18342293 NCBI chr 1:27,380,143...27,600,500
Ensembl chr 1:27,380,142...27,600,495
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:10620750 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,523
JBrowse link
G MAPK11 mitogen-activated protein kinase 11 ISO CTD Direct Evidence: therapeutic CTD PMID:10620750 NCBI chr 5:420,848...428,103
Ensembl chr 5:421,783...428,100
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10620750 NCBI chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,104...31,862,038
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:10620750 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
JBrowse link
G MAPT microtubule associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:29068127 NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,368
JBrowse link
G MEGF10 multiple EGF like domains 10 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:130,226,222...130,403,960 JBrowse link
G MIF macrophage migration inhibitory factor ISO associated with Endotoxemia RGD PMID:15879312 RGD:1641991 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,862,317
JBrowse link
G MIPEP mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:27799064, PMID:28492532 NCBI chr11:2,675,604...2,790,760
Ensembl chr11:2,670,000...2,790,733
JBrowse link
G MLYCD malonyl-CoA decarboxylase ISO malonyl-CoA decarboxylase deficiency, OMIM:248360 RGD PMID:10455107 RGD:1600798 NCBI chr 6:4,683,386...4,698,698
Ensembl chr 6:4,681,664...4,698,661
JBrowse link
G MMP13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28492532, PMID:30311386 NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,003...33,568,076
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:16681691 RGD:1581215 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:16681691, PMID:21810612 RGD:13204757, RGD:1581215 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:14568902 NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055
JBrowse link
G MYBPC3 myosin binding protein C3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Familial cardiomyopathy
CTD
ClinVar
PMID:1853307, PMID:2073894, PMID:2732257, PMID:2943217, PMID:3140859, PMID:7493025, PMID:7493026, PMID:9048664, PMID:9503187, PMID:9541104, PMID:9541115, PMID:9562578, PMID:9631872, PMID:9742053, PMID:10424815, PMID:10521296, PMID:10610770, PMID:10736283, PMID:11499718, PMID:11499719, PMID:11748309, PMID:11815426, PMID:11847170, PMID:12110947, PMID:12117842, PMID:12202917, PMID:12386147, PMID:12403824, PMID:12566107, PMID:12628722, PMID:12707239, PMID:12787675, PMID:12788380, PMID:12818575, PMID:12951062, PMID:12974739, PMID:14563344, PMID:14613868, PMID:14718142, PMID:15010274, PMID:15114369, PMID:15115610, PMID:15166115, PMID:15519027, PMID:15563892, PMID:15671604, PMID:15769446, PMID:15823648, PMID:15936968, PMID:16004897, PMID:16061003, PMID:16181148, PMID:16199542, PMID:16267253, PMID:16335287, PMID:16352453, PMID:16566405, PMID:16651346, PMID:16679492, PMID:16715312, PMID:16754800, PMID:16831826, PMID:16858239, PMID:17081393, PMID:17386157, PMID:17536430, PMID:17560888, PMID:17612681, PMID:17908752, PMID:17937428, PMID:18258667, PMID:18273486, PMID:18337725, PMID:18374358, PMID:18400036, PMID:18403758, PMID:18409188, PMID:18414213, PMID:18467358, PMID:18533079, PMID:18713777, PMID:18761664, PMID:18809796, PMID:18926831, PMID:18929575, PMID:18957093, PMID:19035361, PMID:19150014, PMID:19151713, PMID:19273718, PMID:19293840, PMID:19356534, PMID:19574547, PMID:19590044, PMID:19632136, PMID:19659763, PMID:19666645, PMID:19808356, PMID:19858127, PMID:19996403, PMID:20019025, PMID:20031602, PMID:20031618, PMID:20031619, PMID:20045868, PMID:20051424, PMID:20128375, PMID:20159828, PMID:20173211, PMID:20201939, PMID:20215591, PMID:20298698, PMID:20359594, PMID:20378854, PMID:20414521, PMID:20433692, PMID:20435227, PMID:20439259, PMID:20458009, PMID:20474083, PMID:20505798, PMID:20513729, PMID:20530761, PMID:20542340, PMID:20624503, PMID:20738943, PMID:20800588, PMID:20818890, PMID:20864638, PMID:20975235, PMID:21185001, PMID:21239446, PMID:21297165, PMID:21302287, PMID:21310275, PMID:21415409, PMID:21424860, PMID:21425739, PMID:21472310, PMID:21488259, PMID:21488307, PMID:21492761, PMID:21499742, PMID:21511876, PMID:21520333, PMID:21551322, PMID:21638988, PMID:21750094, PMID:21832025, PMID:21832052, PMID:21835286, PMID:21835320, PMID:21839045, PMID:21915287, PMID:21939669, PMID:21943931, PMID:21959974, PMID:21985754, PMID:22057632, PMID:22112859, PMID:22115648, PMID:22122802, PMID:22177269, PMID:22194935, PMID:22267749, PMID:22337857, PMID:22361390, PMID:22386539, PMID:22429680, PMID:22455086, PMID:22462493, PMID:22464770, PMID:22555271, PMID:22560514, PMID:22563033, PMID:22569109, PMID:22574137, PMID:22589294, PMID:22763267, PMID:22765922, PMID:22857948, PMID:22907696, PMID:22958901, PMID:22995991, PMID:23054336, PMID:23074333, PMID:23140321, PMID:23197398, PMID:23217326, PMID:23233322, PMID:23283745, PMID:23299917, PMID:23348723, PMID:23349452, PMID:23396983, PMID:23418287, PMID:23508784, PMID:23527136, PMID:23534983, PMID:23549607, PMID:23642604, PMID:23674513, PMID:23690394, PMID:23711808, PMID:23782526, PMID:23785128, PMID:23820649, PMID:23840593, PMID:23861362, PMID:23980194, PMID:24033266, PMID:24055113, PMID:24062880, PMID:24093860, PMID:24111713, PMID:24113344, PMID:24119082, PMID:24327208, PMID:24447051, PMID:24503780, PMID:24510615, PMID:24621997, PMID:24704860, PMID:24721642, PMID:24774285, PMID:24774606, PMID:24793961, PMID:24795128, PMID:24810389, PMID:24835277, PMID:24865491, PMID:25031304, PMID:25037680, PMID:25058872, PMID:25078086, PMID:25086479, PMID:25127965, PMID:25132132, PMID:25163546, PMID:25210889, PMID:25214167, PMID:25281569, PMID:25335496, PMID:25342278, PMID:25351510, PMID:25377941, PMID:25443708, PMID:25447171, PMID:25524337, PMID:25525159, PMID:25543971, PMID:25558701, PMID:25569433, PMID:25583989, PMID:25611685, PMID:25637381, PMID:25740977, PMID:25741868, PMID:25741869, PMID:25849606, PMID:25856671, PMID:25971843, PMID:26090888, PMID:26163040, PMID:26178432, PMID:26189708, PMID:26267065, PMID:26332198, PMID:26332594, PMID:26383716, PMID:26458567, PMID:26467025, PMID:26497160, PMID:26654849, PMID:26656175, PMID:26671970, PMID:26688216, PMID:26743238, PMID:26822237, PMID:26899768, PMID:26914223, PMID:26936621, PMID:27000522, PMID:27096365, PMID:27108529, PMID:27112610, PMID:27153395, PMID:27173948, PMID:27194543, PMID:27267291, PMID:27332903, PMID:27418595, PMID:27435932, PMID:27483260, PMID:27532257, PMID:27561770, PMID:27576561, PMID:27590665, PMID:27600940, PMID:27618852, PMID:27650965, PMID:27688314, PMID:27737317, PMID:27831900, PMID:27834932, PMID:27841901, PMID:27854218, PMID:27896284, PMID:27930701, PMID:28024942, PMID:28074886, PMID:28087566, PMID:28138913, PMID:28166282, PMID:28193612, PMID:28202948, PMID:28214152, PMID:28241245, PMID:28323875, PMID:28356264, PMID:28408708, PMID:28416588, PMID:28420666, PMID:28436997, PMID:28492532, PMID:28498465, PMID:28518168, PMID:28538763, PMID:28614222, PMID:28615295, PMID:28640247, PMID:28658286, PMID:28679633, PMID:28750076, PMID:28771489, PMID:28790153, PMID:28794111, PMID:28798025, PMID:28807990, PMID:28840316, PMID:28843747, PMID:28855170, PMID:28971120, PMID:29029073, PMID:29032884, PMID:29121657, PMID:29212898, PMID:29247119, PMID:29367541, PMID:29398688, PMID:29447731, PMID:29493010, PMID:29497013, PMID:29540472, PMID:29555771, PMID:29661763, PMID:29663722, PMID:29709087, PMID:29710196, PMID:29875314, PMID:29875424, PMID:29907873, PMID:29988065, PMID:30025578, PMID:30165862, PMID:30188508, PMID:30206291, PMID:30297972, PMID:30311386, PMID:30645170, PMID:30762279, PMID:30790116, PMID:30871747, PMID:30896616, PMID:30959811, PMID:30972196, PMID:397516074 NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,539...15,270,104
JBrowse link
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:7,002,667...7,143,093
Ensembl chr 3:7,002,733...7,143,094
JBrowse link
G MYH7 myosin heavy chain 7 ISO DNA:missense mutation:exon:p.R1053Q (human)
ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Familial cardiomyopathy
RGD
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 RGD:1580928 NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
JBrowse link
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:08673105, PMID:9724616, PMID:10948063, PMID:11102452, PMID:11748309, PMID:12404107, PMID:12668451, PMID:14594949, PMID:15483641, PMID:15706574, PMID:16076902, PMID:16751284, PMID:16837010, PMID:17606808, PMID:18506004, PMID:18533079, PMID:18929571, PMID:19150977, PMID:20173211, PMID:20855589, PMID:21310275, PMID:21415409, PMID:21823217, PMID:21896538, PMID:22091967, PMID:22260945, PMID:22797899, PMID:22958901, PMID:23197161, PMID:23299917, PMID:23343568, PMID:23396983, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24111713, PMID:25324513, PMID:25333069, PMID:25342278, PMID:25351510, PMID:25524337, PMID:25611685, PMID:25637381, PMID:25741868, PMID:26116789, PMID:26284228, PMID:26497160, PMID:26656175, PMID:26664906, PMID:26936621, PMID:27153395, PMID:27435932, PMID:27483260, PMID:27532257, PMID:27600940, PMID:28223422, PMID:28467684, PMID:28492532, PMID:28611029, PMID:28771489, PMID:29099038, PMID:30403391 NCBI chr14:32,205,953...32,213,848
Ensembl chr14:32,196,883...32,213,760
JBrowse link
G MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:8673105, PMID:11174330, PMID:12021217, PMID:16754800, PMID:17142342, PMID:18403758, PMID:18409188, PMID:20641121, PMID:21239446, PMID:21823217, PMID:21885653, PMID:22131351, PMID:22957257, PMID:22958901, PMID:23054336, PMID:23283745, PMID:23396983, PMID:23426552, PMID:23549607, PMID:23594557, PMID:23748425, PMID:24033266, PMID:24111713, PMID:24503780, PMID:24510615, PMID:25086479, PMID:25132132, PMID:25342278, PMID:25351510, PMID:25611685, PMID:25637381, PMID:25741868, PMID:25856671, PMID:25910212, PMID:26385864, PMID:26443374, PMID:26633542, PMID:27153395, PMID:27483260, PMID:27532257, PMID:27574918, PMID:27831900, PMID:28193612, PMID:28356264, PMID:28371863, PMID:28492532, PMID:28518168, PMID:28615295, PMID:28658286, PMID:28771489, PMID:28790153, PMID:28971120, PMID:29121657, PMID:29420653, PMID:29669825, PMID:29709087, PMID:29710196, PMID:29914921, PMID:30297972, PMID:30706179, PMID:31110529, PMID:31199839, PMID:31447099 NCBI chr13:29,730,271...29,735,616
Ensembl chr13:29,699,304...29,735,586
JBrowse link
G MYLK2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:11733062, PMID:22995991, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532 NCBI chr17:35,499,828...35,513,096
Ensembl chr17:35,499,908...35,513,088
JBrowse link
G MYOT myotilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy
CTD
ClinVar
PMID:15111675, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:139,899,245...139,919,095
Ensembl chr 2:139,861,004...139,919,095
JBrowse link
G MYOZ2 myozenin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:17434779, PMID:19472918, PMID:23861362, PMID:24033266, PMID:25741868, PMID:27532257, PMID:28492532 NCBI chr 8:104,578,942...104,609,367
Ensembl chr 8:104,574,430...104,609,328
JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18006477, PMID:20801532, PMID:22286171, PMID:23299917, PMID:23861362, PMID:24033266, PMID:25741868, PMID:27884173, PMID:27896284, PMID:28492532 NCBI chr14:71,283,271...71,388,591
Ensembl chr14:71,298,907...71,394,600
JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chr 5:222,784...233,491
Ensembl chr 5:221,466...233,475
JBrowse link
G NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:7,145,094...7,174,691
Ensembl chr 3:7,125,936...7,180,623
JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr 4:89,246,958...89,257,090
Ensembl chr 4:89,246,960...89,261,687
JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr 6:98,819,156...98,852,561
Ensembl chr 6:98,815,882...98,852,576
JBrowse link
G NEBL nebulette ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:28492532 NCBI chr10:53,602,929...53,957,869
Ensembl chr10:53,604,600...53,958,047
JBrowse link
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:19881492, PMID:20970104, PMID:24033266, PMID:24503780, PMID:25741868, PMID:25979592, PMID:28087566, PMID:28492532, PMID:28798025 NCBI chr 6:135,315,000...135,382,911
Ensembl chr 6:135,318,754...135,382,699
JBrowse link
G NOS1 nitric oxide synthase 1 ISO associated with Diabetes Mellitus, Experimental;protein:increased expression:cardiomyocyte RGD PMID:17721248 RGD:1642134 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,972
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO associated with Beta-Thalassemia;DNA:repeats:intron:
associated with Diabetes Mellitus, Experimental;protein:decreased expression:heart
RGD PMID:17589825, PMID:25699607 RGD:11533642, RGD:1642825 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G NPPB natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:14745153, PMID:16127512 NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,919,495...71,932,254
JBrowse link
G OLR1 oxidized low density lipoprotein receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16055083 NCBI chr 5:61,799,356...61,809,691
Ensembl chr 5:61,799,286...61,810,624
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase onset ISO RGD PMID:23316298 RGD:7800701 NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,823...130,719,083
JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:2014036, PMID:2044609, PMID:8556304, PMID:8889590, PMID:9399896, PMID:9450897, PMID:10479481, PMID:11385716, PMID:12501224, PMID:12655544, PMID:12655553, PMID:15557004, PMID:17935162, PMID:18538294, PMID:19036622, PMID:20063067, PMID:21871829, PMID:21953985, PMID:22112818, PMID:22526846, PMID:23500595, PMID:23764561, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26542770, PMID:26666653, PMID:28492532, PMID:30311386 NCBI chr 5:81,385,401...81,460,569
Ensembl chr 5:81,236,096...81,463,452
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,159...14,241,197
JBrowse link
G PDE2A phosphodiesterase 2A ISO associated with Liver Cirrhosis;mRNA:increased expression:cardiac myocyte: RGD PMID:19003918 RGD:10449440 NCBI chr 9:7,136,637...7,227,966
Ensembl chr 9:7,136,644...7,227,964
JBrowse link
G PDK2 pyruvate dehydrogenase kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chr12:26,274,562...26,295,787
Ensembl chr12:26,274,606...26,301,880
JBrowse link
G PDLIM3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr15:46,516,178...46,546,658
Ensembl chr15:46,513,234...46,546,504
JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:189621, PMID:2163603, PMID:2412583, PMID:15489853, PMID:16101641, PMID:16415378, PMID:16549640, PMID:16567567, PMID:16774985, PMID:16893920, PMID:17010805, PMID:17041889, PMID:17372169, PMID:17521752, PMID:17556197, PMID:18382419, PMID:18554203, PMID:18662195, PMID:19084810, PMID:19095136, PMID:19279339, PMID:19302745, PMID:19358943, PMID:19427443, PMID:19533476, PMID:19569224, PMID:19863551, PMID:19880068, PMID:19955750, PMID:20031616, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20400443, PMID:20525856, PMID:20646679, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:21062920, PMID:21301620, PMID:21378009, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21822014, PMID:21859740, PMID:22019812, PMID:22035158, PMID:22036071, PMID:22170284, PMID:22177269, PMID:22214898, PMID:22781308, PMID:23137101, PMID:23178689, PMID:23270881, PMID:23299917, PMID:23347029, PMID:23354045, PMID:23396983, PMID:23514727, PMID:23671136, PMID:23810883, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23871674, PMID:23889974, PMID:23911551, PMID:23962865, PMID:23973953, PMID:24033266, PMID:24055113, PMID:24125834, PMID:24200904, PMID:24200905, PMID:24352520, PMID:24503780, PMID:24558114, PMID:24585727, PMID:24632794, PMID:24704780, PMID:24768880, PMID:24784157, PMID:24832006, PMID:24967631, PMID:25087486, PMID:25157032, PMID:25163546, PMID:25196244, PMID:25332820, PMID:25351510, PMID:25395996, PMID:25445213, PMID:25447171, PMID:25525159, PMID:25616645, PMID:25637381, PMID:25650408, PMID:25676813, PMID:25741868, PMID:25741869, PMID:25765472, PMID:25820315, PMID:25825243, PMID:25971409, PMID:25979592, PMID:25998140, PMID:26220970, PMID:26230511, PMID:26264440, PMID:26332594, PMID:26406308, PMID:26498160, PMID:26656175, PMID:26676851, PMID:26743238, PMID:26887364, PMID:27000522, PMID:27005929, PMID:27066507, PMID:27085656, PMID:27122407, PMID:27153395, PMID:27335691, PMID:27532257, PMID:27711072, PMID:27727376, PMID:27930701, PMID:28097316, PMID:28166282, PMID:28166811, PMID:28177452, PMID:28253841, PMID:28255936, PMID:28301460, PMID:28341588, PMID:28431057, PMID:28471438, PMID:28492532, PMID:28518168, PMID:28588093, PMID:28600387, PMID:28611399, PMID:28705875, PMID:28807990, PMID:29099038, PMID:29128982, PMID:29178656, PMID:29221435, PMID:29247119, PMID:29288195, PMID:29497013, PMID:29540472, PMID:29582136, PMID:29802319, PMID:29997227, PMID:30279520, PMID:30311386, PMID:30354609, PMID:30445427, PMID:30615648, PMID:30656044, PMID:30662450, PMID:30677492, PMID:30764827, PMID:30765282, PMID:30790397, PMID:30821013, PMID:31333075, PMID:31539150, PMID:31568572 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868
JBrowse link
G PLN phospholamban ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12610310, PMID:12639993, PMID:16235537, PMID:17655857, PMID:18056057, PMID:19139388, PMID:21167350, PMID:21282613, PMID:21332051, PMID:22137083, PMID:22427649, PMID:22707725, PMID:23308118, PMID:23861362, PMID:24033266, PMID:25593317, PMID:25611685, PMID:25741868, PMID:25928149, PMID:26535225, PMID:26917049, PMID:27532257, PMID:28492532, PMID:28600387 NCBI chr 1:43,449,354...43,458,925 JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO RGD PMID:17310215 RGD:8694182 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6143199 NCBI chr 3:113,661,712...113,668,558 JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO associated with Muscular Dystrophies RGD PMID:22549409 RGD:11069993 NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,451,080
JBrowse link
G PPARD peroxisome proliferator activated receptor delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20075336 NCBI chr 7:31,222,533...31,295,221
Ensembl chr 7:31,222,589...31,295,212
JBrowse link
G PPP1R1A protein phosphatase 1 regulatory inhibitor subunit 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20071777 NCBI chr 5:19,753,850...19,763,281
Ensembl chr 5:19,753,847...19,763,288
JBrowse link
G PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chr 6:155,683,392...155,754,283
Ensembl chr 6:155,681,781...155,754,272
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: PRKAG2 cardiac syndrome
ClinVar PMID:10355918, PMID:10820940, PMID:11407343, PMID:11827995, PMID:14519435, PMID:14722619, PMID:15611370, PMID:15673802, PMID:16836667, PMID:17483151, PMID:17711718, PMID:18811822, PMID:19808419, PMID:20031621, PMID:20381067, PMID:20888928, PMID:21409595, PMID:22555271, PMID:23778007, PMID:23829931, PMID:23992123, PMID:24033266, PMID:24503780, PMID:25741868, PMID:25997934, PMID:27532257, PMID:28341588, PMID:28431061, PMID:28492532, PMID:28498465, PMID:28771489, PMID:28917552, PMID:29121657, PMID:29247119, PMID:29298659, PMID:30311386 NCBI chr18:5,475,077...5,744,761
Ensembl chr18:5,475,077...5,744,658
JBrowse link
G PRKCE protein kinase C epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:15242976 NCBI chr 3:94,351,277...94,864,549
Ensembl chr 3:94,349,889...94,909,020
JBrowse link
G PSEN1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29068127 NCBI chr 7:96,478,179...96,567,884
Ensembl chr 7:96,478,181...96,569,132
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11978490 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18759865, PMID:21934682, PMID:22923420, PMID:24033266, PMID:24803665, PMID:25500235, PMID:25612910, PMID:25741868, PMID:27153395, PMID:28051113, PMID:28492532 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,168...39,292,018
JBrowse link
G RAD51 RAD51 recombinase treatment ISO RGD PMID:22384017 RGD:7240549 NCBI chr 1:130,592,414...130,640,326
Ensembl chr 1:130,586,647...130,640,136
JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18585512, PMID:19712804, PMID:20590677, PMID:21483645, PMID:22004663, PMID:22466703, PMID:23396983, PMID:23861363, PMID:23886709, PMID:24033266, PMID:24503780, PMID:25351510, PMID:25637381, PMID:25741868, PMID:26084686, PMID:26498160, PMID:26656175, PMID:27296017, PMID:27496873, PMID:27896284, PMID:28492532, PMID:29247119, PMID:29650543, PMID:30311386, PMID:30775854 NCBI chr14:121,058,896...121,269,824 JBrowse link
G RHOJ ras homolog family member J ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chr 1:194,761,588...194,843,867
Ensembl chr 1:194,760,939...194,844,356
JBrowse link
G RPL36A ribosomal protein L36a ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:2393552, PMID:7504405, PMID:8411052, PMID:8807334, PMID:8875188, PMID:9100224, PMID:9452111, PMID:11668641, PMID:11828341, PMID:11914245, PMID:14635108, PMID:14680977, PMID:15776423, PMID:15806320, PMID:16232095, PMID:16533976, PMID:16595074, PMID:16754800, PMID:16773563, PMID:17040996, PMID:17532296, PMID:17804462, PMID:18057066, PMID:18154965, PMID:18205205, PMID:18297328, PMID:18596132, PMID:18830871, PMID:19373884, PMID:19621417, PMID:19823873, PMID:20031620, PMID:20110537, PMID:20122163, PMID:20360539, PMID:20464614, PMID:20716442, PMID:20821055, PMID:21092187, PMID:21229318, PMID:21517827, PMID:21549080, PMID:21598360, PMID:21683120, PMID:21890869, PMID:21946453, PMID:22205110, PMID:22226368, PMID:22437327, PMID:22551898, PMID:22682330, PMID:22805550, PMID:23109060, PMID:23219219, PMID:23306324, PMID:23393592, PMID:23430502, PMID:23430526, PMID:23677059, PMID:23922385, PMID:23935525, PMID:24033266, PMID:24082139, PMID:24365053, PMID:24380807, PMID:24386359, PMID:24395922, PMID:24582695, PMID:24661928, PMID:24784157, PMID:24829596, PMID:25040344, PMID:25078086, PMID:25179549, PMID:25382311, PMID:25468652, PMID:25611685, PMID:25637381, PMID:25741868, PMID:26252393, PMID:26305465, PMID:26415523, PMID:26866599, PMID:27142856, PMID:27532257, PMID:27554049, PMID:27595546, PMID:27832731, PMID:27931613, PMID:27979989, PMID:28082092, PMID:28299312, PMID:28377241, PMID:28409012, PMID:28430823, PMID:28492532, PMID:28596458, PMID:28646478, PMID:28799081, PMID:28941980, PMID:29215092, PMID:29330335, PMID:29631605, PMID:29867742, PMID:29982630, PMID:30311386, PMID:30569317, PMID:30773290, PMID:31291414, PMID:31449323, PMID:31566927, PMID:31654629, PMID:31907047, PMID:32418857, PMID:32531501 NCBI chr  X:83,018,305...83,022,285
Ensembl chr  X:83,018,320...83,022,291
JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar PMID:1572740, PMID:8589694, PMID:11157710, PMID:11159936, PMID:11208676, PMID:12106942, PMID:15197150, PMID:15466642, PMID:15544015, PMID:15887426, PMID:16188589, PMID:16272262, PMID:16436635, PMID:16769042, PMID:17062961, PMID:17558603, PMID:17875969, PMID:18326664, PMID:18483626, PMID:18752142, PMID:19216760, PMID:19345240, PMID:19362677, PMID:19398665, PMID:19597050, PMID:19709828, PMID:19781797, PMID:19926015, PMID:20157052, PMID:21315846, PMID:21454795, PMID:21478052, PMID:21616285, PMID:21659649, PMID:21964171, PMID:22221940, PMID:22222782, PMID:22373669, PMID:22374134, PMID:22396703, PMID:22515980, PMID:22584762, PMID:22677073, PMID:22787013, PMID:23022705, PMID:23152493, PMID:23204524, PMID:23286974, PMID:23396983, PMID:23595086, PMID:23757202, PMID:23820649, PMID:23861362, PMID:23871484, PMID:24025405, PMID:24033266, PMID:24055113, PMID:24447446, PMID:24503780, PMID:24558114, PMID:24631775, PMID:24978818, PMID:24981977, PMID:25041964, PMID:25087098, PMID:25092222, PMID:25163546, PMID:25193700, PMID:25351510, PMID:25440180, PMID:25467552, PMID:25637381, PMID:25650408, PMID:25741868, PMID:25844899, PMID:25925909, PMID:26018045, PMID:26132555, PMID:26153920, PMID:26189708, PMID:26272908, PMID:26332594, PMID:26383259, PMID:26498160, PMID:26569459, PMID:26633542, PMID:26656175, PMID:26688388, PMID:26704558, PMID:26743238, PMID:26899768, PMID:27054166, PMID:27153395, PMID:27194543, PMID:27229459, PMID:27231019, PMID:27332903, PMID:27435932, PMID:27532257, PMID:27538377, PMID:27650965, PMID:27727376, PMID:27756708, PMID:27930701, PMID:28125075, PMID:28202948, PMID:28237968, PMID:28256248, PMID:28404607, PMID:28416588, PMID:28422759, PMID:28449774, PMID:28492532, PMID:28567303, PMID:28686619, PMID:28697927, PMID:28771489, PMID:28798025, PMID:29247119, PMID:29368431, PMID:29396286, PMID:29453246, PMID:29511324, PMID:29555771, PMID:30311386, PMID:30403697, PMID:30615648, PMID:30835254, PMID:31333075, PMID:31568572 NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,245...54,406,355
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr 6:44,597,461...44,607,488
Ensembl chr 6:44,597,713...44,607,490
JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23257389, PMID:23861362, PMID:24033266, PMID:25741868, PMID:27435932, PMID:27711072, PMID:28492532, PMID:30662450 NCBI chr 9:50,508,194...50,532,432
Ensembl chr 9:50,508,198...50,524,628
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:10807545, PMID:10966831, PMID:11901046, PMID:14760488, PMID:14967853, PMID:15176425, PMID:15851227, PMID:15992732, PMID:15996170, PMID:16267253, PMID:16379539, PMID:16611632, PMID:17210839, PMID:17210841, PMID:17587741, PMID:17605181, PMID:18071069, PMID:18426444, PMID:18456723, PMID:19406494, PMID:19716085, PMID:19799913, PMID:19841300, PMID:20129283, PMID:20636320, PMID:21109022, PMID:21167004, PMID:21622575, PMID:22378279, PMID:22581653, PMID:22677073, PMID:22685113, PMID:22995991, PMID:23414114, PMID:23465283, PMID:23571586, PMID:23861362, PMID:23936059, PMID:24033266, PMID:24055113, PMID:24136861, PMID:24317018, PMID:24736382, PMID:25051102, PMID:25348405, PMID:25410959, PMID:25637381, PMID:25741868, PMID:26159999, PMID:26467025, PMID:27153395, PMID:27381756, PMID:27711072, PMID:28087566, PMID:28492532 NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,338,124...23,438,385
JBrowse link
G SCO2 SCO cytochrome oxidase deficient homolog 2 (yeast) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy
CTD
ClinVar
PMID:16326995, PMID:30311386 NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,319
JBrowse link
G SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12746421, PMID:18285821, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr12:26,356,691...26,368,561
Ensembl chr12:26,356,773...26,371,601
JBrowse link
G SGCB sarcoglycan beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chr 8:39,130,371...39,148,756 JBrowse link
G SGCD sarcoglycan delta treatment
severity
ISO associated with Sgcd knockout
ClinVar Annotator: match by term: Cardiomyopathy
CTD Direct Evidence: marker/mechanism
associated with limb-girdle muscular dystrophy
DNA:mutation:cds:p.Ser151Ala(mouse)
RGD
ClinVar
CTD
PMID:10481911, PMID:19218289, PMID:20675662, PMID:23695275, PMID:24033266, PMID:25281567, PMID:25741868, PMID:26084686, PMID:26467025, PMID:28492532 RGD:13605616, RGD:13605617, RGD:13605618 NCBI chr16:66,447,982...67,481,709
Ensembl chr16:66,452,416...66,887,924
JBrowse link
G SLC22A5 solute carrier family 22 member 5 ISO DNA:frameshift mutation:cds:p.R282fsX295 (human) RGD PMID:15487009 RGD:1580608 NCBI chr 2:134,660,741...134,847,575 JBrowse link
G SLC30A5 solute carrier family 30 member 5 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 NCBI chr16:47,284,974...47,320,892
Ensembl chr16:47,284,718...47,322,347
JBrowse link
G SLC33A1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr13:95,690,453...95,724,239 JBrowse link
G SOD1 superoxide dismutase 1 ISO RGD PMID:15890620 RGD:1581220 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,749
JBrowse link
G SOD2 superoxide dismutase 2 ISO associated with hemochromatosis;DNA:polymorphism: :p.A16V (human)
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:15591282, PMID:15890620, PMID:23536361 RGD:1580836, RGD:1581220 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:21340158, PMID:21387466, PMID:22585553, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,089,243...101,362,723
JBrowse link
G SRF serum response factor ISO RGD PMID:12874181 RGD:1581473 NCBI chr 7:38,213,300...38,223,686
Ensembl chr 7:38,213,063...38,222,140
JBrowse link
G SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:17897828, PMID:24033266, PMID:25351510, PMID:25741868, PMID:26159999, PMID:27066573, PMID:27312022, PMID:27854218, PMID:28492532 NCBI chr13:65,041,193...65,066,367
Ensembl chr13:65,039,719...65,105,690
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic RGD
CTD
PMID:10618415, PMID:23619365, PMID:24448315 RGD:7495791 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G STRIP1 striatin interacting protein 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chr 4:110,061,596...110,081,017
Ensembl chr 4:110,061,600...110,080,822
JBrowse link
G TAF10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr 9:3,144,262...3,145,702
Ensembl chr 9:3,144,277...3,145,720
JBrowse link
G TAZ tafazzin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,947,241
JBrowse link
G TCAP titin-cap ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:16911908, PMID:18585512, PMID:19035361, PMID:19412328, PMID:20215591, PMID:20474083, PMID:22194935, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24037902, PMID:24503780, PMID:25741868, PMID:26332198, PMID:26350513, PMID:26467025, PMID:27532257, PMID:28492532, PMID:30871747 NCBI chr12:22,651,666...22,652,904
Ensembl chr12:22,651,666...22,653,453
JBrowse link
G TGFB3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868, PMID:28240702, PMID:28492532 NCBI chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,511...99,162,232
JBrowse link
G THPO thrombopoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16651473 NCBI chr13:122,259,654...122,267,860
Ensembl chr13:122,260,216...122,267,861
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 chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,835
JBrowse link
G TLR2 toll like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15505089 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18313022, PMID:18414213, PMID:20010364, PMID:20435227, PMID:21214875, PMID:21391237, PMID:21636032, PMID:22458570, PMID:22725725, PMID:23161701, PMID:23178689, PMID:23555315, PMID:23671136, PMID:23810883, PMID:23812740, PMID:23861362, PMID:24033266, PMID:24125834, PMID:24598986, PMID:25214167, PMID:25343256, PMID:25351510, PMID:25676813, PMID:25741868, PMID:25820315, PMID:26467025, PMID:26513349, PMID:26743238, PMID:26840987, PMID:27153395, PMID:27532257, PMID:28301460, PMID:28471438, PMID:28491673, PMID:28492532, PMID:28750076, PMID:29040414, PMID:29247119, PMID:29980933, PMID:30206291, PMID:30700137, PMID:31333075, PMID:31568572 NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,219...70,417,168
JBrowse link
G TMEM70 transmembrane protein 70 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18953340 NCBI chr 4:61,958,605...61,966,041
Ensembl chr 4:61,958,602...61,966,027
JBrowse link
G TMPO thymopoietin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362, PMID:24033266, PMID:28492532 NCBI chr 5:85,317,648...85,346,528
Ensembl chr 5:85,315,477...85,346,565
JBrowse link
G TNF tumor necrosis factor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:10716473, PMID:24441175 RGD:10450596 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:30165862 NCBI chr13:34,591,571...34,594,320
Ensembl chr13:34,591,210...34,594,339
JBrowse link
G TNNI3 troponin I3, cardiac type ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy
CTD
ClinVar
PMID:3144325, PMID:7592712, PMID:9241277, PMID:10098965, PMID:10806205, PMID:11735257, PMID:11815426, PMID:12531876, PMID:12707239, PMID:12746413, PMID:12860912, PMID:15070570, PMID:15201162, PMID:15524171, PMID:15607392, PMID:15631686, PMID:15698845, PMID:15774859, PMID:15961398, PMID:15992656, PMID:16020591, PMID:16199542, PMID:16288990, PMID:16335287, PMID:16352453, PMID:16531415, PMID:17010989, PMID:17587482, PMID:17599605, PMID:17872964, PMID:18175163, PMID:18269819, PMID:18403758, PMID:18409188, PMID:18423659, PMID:19035361, PMID:19289050, PMID:19590045, PMID:19645627, PMID:19651143, PMID:20031602, PMID:20350521, PMID:20474083, PMID:20624503, PMID:20641121, PMID:21239446, PMID:21310275, PMID:21511876, PMID:21533915, PMID:21799269, PMID:21839045, PMID:21896538, PMID:21967901, PMID:22301726, PMID:22429680, PMID:22464770, PMID:22765922, PMID:22876777, PMID:22940544, PMID:22958901, PMID:23270746, PMID:23283745, PMID:23540544, PMID:23610579, PMID:23690394, PMID:23967088, PMID:24033266, PMID:24111713, PMID:24113344, PMID:24503780, PMID:24510615, PMID:24704860, PMID:25086479, PMID:25132132, PMID:25228707, PMID:25239116, PMID:25324519, PMID:25342278, PMID:25351510, PMID:25524337, PMID:25741868, PMID:25940119, PMID:26169204, PMID:26440512, PMID:26506446, PMID:26914223, PMID:26936621, PMID:27532257, PMID:27557662, PMID:27600940, PMID:28138913, PMID:28166811, PMID:28193612, PMID:28356264, PMID:28382084, PMID:28436080, PMID:28492532, PMID:28498465, PMID:28771489, PMID:28790153, PMID:29255176, PMID:29661763, PMID:29907873, PMID:30165862, PMID:31333075, PMID:31568572 NCBI chr 6:59,366,828...59,377,490
Ensembl chr 6:59,366,828...59,382,728
JBrowse link
G TNNT1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:59,351,445...59,365,584
Ensembl chr 6:59,347,582...59,365,589
JBrowse link
G TNNT2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy
CTD
ClinVar
PMID:2946667, PMID:7898523, PMID:8205619, PMID:8951566, PMID:9140840, PMID:9154300, PMID:10085122, PMID:10405326, PMID:10467159, PMID:10497196, PMID:10610467, PMID:10617660, PMID:11034944, PMID:11060291, PMID:11060294, PMID:11106718, PMID:11113119, PMID:11432788, PMID:11560853, PMID:11606294, PMID:11684629, PMID:11773635, PMID:12186860, PMID:12409295, PMID:12707239, PMID:12818575, PMID:12860912, PMID:12881443, PMID:12923187, PMID:12974739, PMID:14563299, PMID:14636924, PMID:14654368, PMID:14722098, PMID:14745153, PMID:15246915, PMID:15358028, PMID:15464434, PMID:15519027, PMID:15542288, PMID:15563892, PMID:15623536, PMID:15631686, PMID:15769782, PMID:15923195, PMID:15958377, PMID:16115869, PMID:16199542, PMID:16715312, PMID:16754800, PMID:16777946, PMID:17101185, PMID:17456375, PMID:17587482, PMID:17932326, PMID:18467357, PMID:18533079, PMID:18651846, PMID:19033660, PMID:19035361, PMID:19150014, PMID:19275886, PMID:19412328, PMID:19645627, PMID:19754353, PMID:19914256, PMID:20031601, PMID:20031602, PMID:20031618, PMID:20038417, PMID:20057144, PMID:20079745, PMID:20215591, PMID:20439259, PMID:20530761, PMID:20624503, PMID:20800588, PMID:20973921, PMID:20978592, PMID:21310275, PMID:21483645, PMID:21511876, PMID:21683708, PMID:21846512, PMID:22017532, PMID:22144547, PMID:22292720, PMID:22321274, PMID:22455086, PMID:22464770, PMID:22500102, PMID:22675533, PMID:22857948, PMID:22958901, PMID:23074333, PMID:23233322, PMID:23283745, PMID:23299917, PMID:23349452, PMID:23383212, PMID:23396983, PMID:23494605, PMID:23539503, PMID:23663841, PMID:23674365, PMID:23711808, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24093860, PMID:24111713, PMID:24367593, PMID:24418317, PMID:24503780, PMID:24721642, PMID:24793961, PMID:24992688, PMID:25086479, PMID:25351510, PMID:25448463, PMID:25524337, PMID:25611685, PMID:25637381, PMID:25668678, PMID:25741868, PMID:25849606, PMID:26084686, PMID:26183555, PMID:26468400, PMID:26507537, PMID:26633542, PMID:26656175, PMID:26656454, PMID:26681313, PMID:26688388, PMID:26743238, PMID:26779504, PMID:26899768, PMID:26914223, PMID:27022107, PMID:27082122, PMID:27153395, PMID:27411801, PMID:27483260, PMID:27493864, PMID:27532257, PMID:27576561, PMID:27600940, PMID:27841901, PMID:27930701, PMID:28193612, PMID:28255936, PMID:28356264, PMID:28408708, PMID:28416588, PMID:28420666, PMID:28492532, PMID:28771489, PMID:28790153, PMID:28798025, PMID:28973083, PMID:28973951, PMID:29121657, PMID:29367539, PMID:29661763, PMID:29773157, PMID:30165862, PMID:30311386 NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
CTD Direct Evidence: therapeutic
CTD PMID:16013437, PMID:31618665 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:07729014, PMID:07898523, PMID:08205619, PMID:08523464, PMID:08774330, PMID:09060904, PMID:9245729, PMID:9400381, PMID:09440709, PMID:09822100, PMID:10400910, PMID:10900175, PMID:11606294, PMID:11968089, PMID:12473556, PMID:14734051, PMID:15000344, PMID:16014439, PMID:16504640, PMID:18403758, PMID:18533079, PMID:19035361, PMID:20159828, PMID:21109227, PMID:21239446, PMID:21295541, PMID:21310275, PMID:21320446, PMID:21376702, PMID:22112859, PMID:22155441, PMID:22187526, PMID:22462493, PMID:22789852, PMID:22794249, PMID:23204897, PMID:23283745, PMID:23674513, PMID:23700264, PMID:23861362, PMID:24033266, PMID:24183960, PMID:24503780, PMID:24793961, PMID:25031304, PMID:25326635, PMID:25524337, PMID:25548289, PMID:25607779, PMID:25611685, PMID:25741868, PMID:26936621, PMID:27177193, PMID:27532257, PMID:27600940, PMID:28138913, PMID:28301460, PMID:28356264, PMID:28359939, PMID:28492532, PMID:29024827, PMID:29121657, PMID:29517769, PMID:29760186, PMID:30165862, PMID:30311386 NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,981...109,019,440
JBrowse link
G TRIM63 tripartite motif containing 63 ISO CTD Direct Evidence: therapeutic CTD PMID:19168726 NCBI chr 6:83,493,200...83,507,471
Ensembl chr 6:83,492,633...83,507,499
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:21887725, PMID:23382873, PMID:25467552, PMID:25741868, PMID:26820365, PMID:27207958, PMID:28492532 NCBI chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,221...54,377,155
JBrowse link
G TSHR thyroid stimulating hormone receptor ISO RGD PMID:8796147 RGD:1580777 NCBI chr 7:103,768,260...103,925,777
Ensembl chr 7:103,768,296...103,925,922
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar PMID:1745277, PMID:10053013, PMID:10462489, PMID:11310621, PMID:11717165, PMID:12145747, PMID:12669942, PMID:15802564, PMID:16084088, PMID:17344846, PMID:17444505, PMID:18414213, PMID:18948003, PMID:19608031, PMID:20890277, PMID:21617319, PMID:21810661, PMID:22335739, PMID:22475360, PMID:22577215, PMID:22577218, PMID:22577220, PMID:23033978, PMID:23299917, PMID:23396983, PMID:23418287, PMID:23478172, PMID:23486992, PMID:23514108, PMID:23518707, PMID:23606733, PMID:23620651, PMID:23675308, PMID:23852418, PMID:23861362, PMID:23975875, PMID:23995273, PMID:24033266, PMID:24055113, PMID:24082139, PMID:24105469, PMID:24119082, PMID:24271327, PMID:24315344, PMID:24384345, PMID:24395473, PMID:24444549, PMID:24459294, PMID:24503780, PMID:24558114, PMID:24575448, PMID:24636144, PMID:24892279, PMID:24980681, PMID:25016126, PMID:25145518, PMID:25163546, PMID:25214167, PMID:25253871, PMID:25498755, PMID:25500009, PMID:25500949, PMID:25556389, PMID:25589632, PMID:25626705, PMID:25741868, PMID:25889363, PMID:25979592, PMID:26269091, PMID:26383259, PMID:26467025, PMID:26498160, PMID:26516846, PMID:26518445, PMID:26567375, PMID:26701604, PMID:26735901, PMID:26777568, PMID:27066507, PMID:27194543, PMID:27273923, PMID:27532257, PMID:27588451, PMID:27788187, PMID:27843123, PMID:27854229, PMID:27868399, PMID:27930701, PMID:28045975, PMID:28166282, PMID:28416588, PMID:28492532, PMID:28578331, PMID:28600387, PMID:28704380, PMID:28750076, PMID:28771489, PMID:28822653, PMID:28857138, PMID:29099038, PMID:29221435, PMID:29485843, PMID:29970176, PMID:30311386, PMID:30536954 NCBI chr15:84,226,953...84,501,320 JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:192115, PMID:1351039, PMID:1353008, PMID:1355416, PMID:1356051, PMID:1358785, PMID:1490495, PMID:1547960, PMID:1570831, PMID:1626556, PMID:1664269, PMID:1729893, PMID:1850190, PMID:1867256, PMID:1877623, PMID:1977686, PMID:1992765, PMID:1997217, PMID:2002274, PMID:2063870, PMID:2122246, PMID:2174830, PMID:2237288, PMID:2320592, PMID:2349941, PMID:2564060, PMID:2590199, PMID:2624269, PMID:2646319, PMID:2714785, PMID:2840822, PMID:2856994, PMID:2857043, PMID:2896079, PMID:2981253, PMID:3011930, PMID:3022107, PMID:3022108, PMID:3022697, PMID:3030336, PMID:3097057, PMID:3229002, PMID:3457802, PMID:3479441, PMID:3627183, PMID:3676699, PMID:3722385, PMID:3908483, PMID:3934968, PMID:4079954, PMID:4138132, PMID:4354899, PMID:5507249, PMID:5652991, PMID:5799493, PMID:6087811, PMID:6100724, PMID:6208668, PMID:6311926, PMID:6549130, PMID:6583672, PMID:6651852, PMID:6736244, PMID:6782125, PMID:7389759, PMID:7599630, PMID:7608709, PMID:7655883, PMID:7656439, PMID:7839813, PMID:7868124, PMID:7906282, PMID:7923855, PMID:8064809, PMID:8100581, PMID:8102146, PMID:8194279, PMID:8563114, PMID:8698351, PMID:8778271, PMID:8857732, PMID:9017939, PMID:9090525, PMID:9215058, PMID:9395311, PMID:9428731, PMID:9475090, PMID:9818054, PMID:10453736, PMID:10465115, PMID:10506096, PMID:10529370, PMID:10762172, PMID:10772944, PMID:10842715, PMID:11385707, PMID:11577236, PMID:11709003, PMID:11752419, PMID:11752443, PMID:11940682, PMID:12000195, PMID:12050338, PMID:12217248, PMID:12433265, PMID:12440486, PMID:12566023, PMID:12588803, PMID:12617705, PMID:12874413, PMID:12874414, PMID:14569203, PMID:14640030, PMID:14673473, PMID:14724437, PMID:14968122, PMID:14986482, PMID:15123043, PMID:15185492, PMID:15217993, PMID:15249622, PMID:15299606, PMID:15523922, PMID:15735344, PMID:15820680, PMID:15930086, PMID:16011990, PMID:16194874, PMID:16194875, PMID:16362527, PMID:16432141, PMID:16631014, PMID:16631015, PMID:16911959, PMID:17251346, PMID:17431395, PMID:17431450, PMID:17503405, PMID:17698792, PMID:17968687, PMID:18276611, PMID:18295603, PMID:18318779, PMID:18460047, PMID:18606975, PMID:18830126, PMID:18863976, PMID:18925456, PMID:18984591, PMID:19118530, PMID:19364362, PMID:19428025, PMID:19602727, PMID:19709674, PMID:19781421, PMID:19808383, PMID:20209591, PMID:20301373, PMID:20435197, PMID:20660862, PMID:20840742, PMID:21557933, PMID:21600538, PMID:21992998, PMID:22083004, PMID:22184092, PMID:22332999, PMID:22382560, PMID:22449240, PMID:22531659, PMID:22620962, PMID:22745357, PMID:22877808, PMID:22995991, PMID:23080516, PMID:23387326, PMID:23414091, PMID:23580146, PMID:23713495, PMID:23716704, PMID:23833285, PMID:23993291, PMID:24033266, PMID:24046394, PMID:24073013, PMID:24101373, PMID:24111657, PMID:24164154, PMID:24184229, PMID:24455802, PMID:24474780, PMID:24503780, PMID:24517438, PMID:24555660, PMID:24601850, PMID:24633258, PMID:24800914, PMID:24818650, PMID:24945718, PMID:24955979, PMID:25225131, PMID:25311081, PMID:25395306, PMID:25550818, PMID:25551524, PMID:25741868, PMID:25743335, PMID:25819286, PMID:25846356, PMID:25997029, PMID:26017327, PMID:26115788, PMID:26123279, PMID:26428663, PMID:26467025, PMID:26537620, PMID:27249223, PMID:27562180, PMID:27793437, PMID:27885756, PMID:28492532, PMID:29121657, PMID:31371117 NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,193...115,503,977
JBrowse link
G TXN thioredoxin ISO CTD Direct Evidence: therapeutic CTD PMID:12221060 NCBI chr 1:251,264,180...251,278,000
Ensembl chr 1:251,263,175...251,277,988
JBrowse link
G TXNRD2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28492532 NCBI chr14:51,355,731...51,385,096
Ensembl chr14:51,354,178...51,385,353
JBrowse link
G UTS2 urotensin 2 ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium RGD PMID:12791592, PMID:18280445 RGD:1580809, RGD:2306796 NCBI chr 6:68,552,889...68,560,827 JBrowse link
G UTS2R urotensin 2 receptor ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium RGD PMID:18280445 RGD:2306796 NCBI chr12:695,765...700,678 JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 4:104,994,341...105,048,853
Ensembl chr 4:104,998,532...105,048,853
JBrowse link
G VCL vinculin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:15331426, PMID:15769782, PMID:16236538, PMID:17785437, PMID:22421524, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25351510, PMID:25741868, PMID:26191084, PMID:26458567, PMID:26656175, PMID:27532257, PMID:27930701, PMID:28492532 NCBI chr14:76,700,143...76,811,875
Ensembl chr14:76,700,168...76,811,875
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:10229225 RGD:1580578 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:30311386 NCBI chr 4:37,085,929...37,821,159
Ensembl chr 4:37,090,935...37,820,419
JBrowse link
G XDH xanthine dehydrogenase treatment ISO associated with Cachexia
associated with Insulin Resistance
RGD PMID:23751350, PMID:25889404 RGD:13208959, RGD:7247699 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,986,528...108,080,151
JBrowse link
G YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta ISO CTD Direct Evidence: therapeutic CTD PMID:18342293 NCBI chr14:48,544,031...48,556,496
Ensembl chr14:48,544,177...48,556,493
JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 ISO OMIM NCBI chr13:118,907,299...118,913,270
Ensembl chr13:118,902,666...118,913,278
JBrowse link
acute myocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD40 CD40 molecule ISO RGD PMID:9495297 RGD:13702889 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
alcoholic cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:22497828 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G NOS1 nitric oxide synthase 1 ISO protein:decreased expression:skeletal muscle, membrane RGD PMID:17607508 RGD:1642138 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,972
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO protein:increased expression:heart myocardium RGD PMID:18783396 RGD:2301868 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,655...68,433,947
JBrowse link
G RXRA retinoid X receptor alpha ISO RGD PMID:19791468 RGD:2317465 NCBI chr 1:273,698,842...273,797,622
Ensembl chr 1:273,705,503...273,797,622
JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO mRNA, protein:decreased expression:myocardium RGD PMID:21169901 RGD:9681464 NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,699...46,200,994
JBrowse link
Andersen-Tawil syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 ISO OMIM NCBI chr12:10,351,959...10,380,631
Ensembl chr12:10,349,409...10,362,244
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 ISO ClinVar Annotator: match by term: Andersen Tawil syndrome
ClinVar Annotator: match by term: Andersen Syndrome
ClinVar PMID:20560207, PMID:21311022, PMID:22203740, PMID:24574546, PMID:25741868, PMID:28492532 NCBI chr 9:55,836,777...55,861,288
Ensembl chr 9:55,836,701...55,864,941
JBrowse link
Apical Hypertrophic Cardiomyopathy and Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6 ATP synthase F0 subunit 6 ISO ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy ClinVar PMID:21686774 NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800
JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO OMIM NCBI chr MT:8,959...9,162
Ensembl chr MT:8,959...9,162
JBrowse link
arrhythmogenic right ventricular cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:20890277, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532 NCBI chr 5:51,536,531...51,673,583
Ensembl chr 5:51,536,526...51,673,583
JBrowse link
G ACTN2 actinin alpha 2 ISO DNA:polymorphism: :
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
RGD
ClinVar
PMID:11078270, PMID:25741868 RGD:13506947 NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,779
JBrowse link
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 9:71,895,615...72,054,898
Ensembl chr 9:71,895,630...72,054,897
JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 8:109,306,793...109,661,970 JBrowse link
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, arrhythmogenic right ventricular dysplasia ClinVar PMID:21898660, PMID:23861362, PMID:25741868, PMID:28492532, PMID:29382405 NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,510,293...129,533,996
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362, PMID:25447171, PMID:25661095, PMID:25741868, PMID:28492532 NCBI chr 5:69,016,954...69,448,428 JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chr10:44,321,954...44,887,410
Ensembl chr10:44,421,666...44,885,424
JBrowse link
G CALR3 calreticulin 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:17655857, PMID:23861362, PMID:28492532 NCBI chr 2:61,105,307...61,136,060
Ensembl chr 2:61,105,303...61,134,961
JBrowse link
G CDH2 cadherin 2 ISO DNA:mutation:cds:c.1219G>A(p.D407N)(human)
DNA:missense mutations:cds:c.686A>C(p.Q229P), c.1219G>A (p.D407N)(human)
RGD PMID:28280076, PMID:28326674 RGD:13524622, RGD:13524623 NCBI chr 6:112,396,713...112,629,073
Ensembl chr 6:112,396,721...112,628,432
JBrowse link
G DES desmin ISO DNA:mutation:cds:c.1203G>C (p.E401D)(human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
RGD
ClinVar
PMID:24033266, PMID:25179549, PMID:25741868, PMID:28492532, PMID:29212896 RGD:13525009 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,103...121,435,424
JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,223...29,181,689
JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:7971964, PMID:17033975, PMID:17186466, PMID:17963498, PMID:18382419, PMID:18678517, PMID:18957847, PMID:19863551, PMID:20031616, PMID:20031617, PMID:20197793, PMID:20400443, PMID:20716751, PMID:20829228, PMID:20857253, PMID:21062920, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21859740, PMID:23147450, PMID:23299917, PMID:23396983, PMID: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 chr 6:114,982,259...115,021,332
Ensembl chr 6:114,916,763...115,021,305
JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:2040044, PMID:16025435, PMID:16505173, PMID:16773573, PMID:16774985, PMID:17105751, PMID:17372169, PMID:18382419, PMID:18632414, PMID:18678517, PMID:18813333, PMID:19039334, PMID:19151369, PMID:19569224, PMID:19863551, PMID:20031616, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20197793, PMID:20400443, PMID:20603720, PMID:20708101, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21859740, PMID:22000064, PMID:22214898, PMID:23071725, PMID:23299917, PMID:23381804, PMID:23514727, PMID:23671136, PMID:23810883, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23871674, PMID:23871885, PMID:23889974, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24082139, PMID:24238504, PMID:24436435, PMID:24503780, PMID:24704780, PMID:25087486, PMID:25172079, PMID:25213555, PMID:25332820, PMID:25445213, PMID:25525159, PMID:25637381, PMID:25741868, PMID:25765472, PMID:25820315, PMID:26138720, PMID:26230511, PMID:26899768, PMID:27194543, PMID:27532257, PMID:27930701, PMID:28255936, PMID:28283360, PMID:28341588, PMID:28471438, PMID:28492532, PMID:28578331, PMID:28818065, PMID:29062102, PMID:29178656, PMID:30311386, PMID:30454721, PMID:30790397, PMID:31333075, PMID:31568572 NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,252...115,452,473
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
RGD
ClinVar
PMID:10395892, PMID:10594734, PMID:11063735, PMID:12875771, PMID:15941723, PMID:16628197, PMID:16774985, PMID:16917092, PMID:18382419, PMID:18632414, PMID:19095136, PMID:19279339, PMID:19358943, PMID:19558499, PMID:19863551, PMID:19924139, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20400443, PMID:20716751, PMID:20864495, PMID:21062920, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21756917, PMID:21859740, PMID:22555271, PMID:22949226, PMID:23137101, PMID:23292937, PMID:23299917, PMID:23381804, PMID:23514727, PMID:23810894, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24503780, PMID:24704780, PMID:25225338, PMID:25227139, PMID:25351510, PMID:25525159, PMID:25569433, PMID:25616645, PMID:25637381, PMID:25661095, PMID:25693453, PMID:25741868, PMID:26230511, PMID:26332594, PMID:26498160, PMID:26569459, PMID:26585738, PMID:26656175, PMID:26850880, PMID:26899768, PMID:27097650, PMID:27153395, PMID:27435932, PMID:27532257, PMID:27831900, PMID:28074886, PMID:28087426, PMID:28254189, PMID:28416588, PMID:28473349, PMID:28492532, PMID:28527814, PMID:28588093, PMID:28759816, PMID:28798025, PMID:29062697, PMID:29253866, PMID:29892087, PMID:30311386 RGD:1580890 NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
G FHL2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 3:49,389,900...49,448,459
Ensembl chr 3:49,363,555...49,467,527
JBrowse link
G GJA1 gap junction protein alpha 1 ISO protein:decreased expression:buccal mucosa
protein:altered expression:ventricle
RGD PMID:23178689, PMID:26850880 RGD:11352402, RGD:13592599 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 7:60,010,396...60,052,258
Ensembl chr 7:60,010,482...60,053,823
JBrowse link
G IFT43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar NCBI chr 7:99,155,889...99,254,436 JBrowse link
G IL6R interleukin 6 receptor ISO protein:increased expression:serum RGD PMID:21859801 RGD:10402826 NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,426...95,381,282
JBrowse link
G JUP junction plakoglobin ISO protein:altered expression:ventricle
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
RGD
ClinVar
PMID:23178689, PMID:24033266, PMID:24884844, PMID:25741868, PMID:28098346, PMID:28492532 RGD:11352402 NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,211
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:9328483, PMID:9354783, PMID:9354802, PMID:9445165, PMID:10400998, PMID:10428953, PMID:10973849, PMID:11320260, PMID:11874988, PMID:12566567, PMID:15840476, PMID:16818210, PMID:19008479, PMID:19340287, PMID:19521339, PMID:19716085, PMID:22166941, PMID:22581653, PMID:23124029, PMID:23510998, PMID:23631430, PMID:24033266, PMID:24400172, PMID:24561134, PMID:24606995, PMID:25637381, PMID:25741868, PMID:26187847, PMID:28176637, PMID:28492532 NCBI chr13:198,051,281...198,059,444 JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:15176425, PMID:16244680, PMID:22402334, PMID:22581653, PMID:25741868, PMID:28492532 NCBI chr18:6,242,826...6,279,154
Ensembl chr18:6,243,524...6,279,111
JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,446...78,224,365
JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:23861362, PMID:24033266, PMID:25741868 NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251
JBrowse link
G LMNA lamin A/C ISO DNA:duplication:cds:c.418_438dup (human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
RGD
ClinVar
PMID:22224630, PMID:22266370, PMID:22464770, PMID:23183350, PMID:23853504, PMID:24033266, PMID:24503780, PMID:24846508, PMID:25741868, PMID:25837155, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27884249, PMID:28492532, PMID:29149195, PMID:29237675, PMID:30165862, PMID:30311386, PMID:30402260, PMID:30765282 RGD:11056513 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:23861362, PMID:24033266, PMID:24093860, PMID:24793961, PMID:25031304, PMID:25351510, PMID:25741868, PMID:27247418, PMID:27532257, PMID:28492532, PMID:28640247, PMID:28771489, PMID:29875424, PMID:30297972 NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
JBrowse link
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:23861362, PMID:25741868, PMID:28492532, PMID:28611029 NCBI chr14:32,205,953...32,213,848
Ensembl chr14:32,196,883...32,213,760
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 6:103,451,206...103,593,093
Ensembl chr 6:103,451,343...103,597,324
JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chr14:71,283,271...71,388,591
Ensembl chr14:71,298,907...71,394,600
JBrowse link
G PKP2 plakophilin 2 ISO 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 Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
RGD
ClinVar
PMID:189621, PMID:2412583, PMID:15489853, PMID:16101641, PMID:16415378, PMID:16549640, PMID:16567567, PMID:16774985, PMID:16893920, PMID:17010805, PMID:17372169, PMID:17521752, PMID:17556197, PMID:18382419, PMID:18554203, PMID:18662195, PMID:19084810, PMID:19095136, PMID:19279339, PMID:19302745, PMID:19358943, PMID:19427443, PMID:19533476, PMID:19569224, PMID:19863551, PMID:19880068, PMID:19955750, PMID:20031616, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20197793, PMID:20400443, PMID:20525856, PMID:20646679, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:21062920, PMID:21301620, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21822014, PMID:21859740, PMID:22019812, PMID:22035158, PMID:22036071, PMID:22177269, PMID:22214898, PMID:22781308, PMID:23137101, PMID:23178689, PMID:23270881, PMID:23299917, PMID:23347029, PMID:23514727, PMID:23671136, PMID:23810883, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23871674, PMID:23871885, PMID:23889974, PMID:23911551, PMID:23973953, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24200904, PMID:24200905, PMID:24352520, PMID:24503780, PMID:24558114, PMID:24585727, PMID:24704780, PMID:24784157, PMID:24832006, PMID:24967631, PMID:25087486, PMID:25163546, PMID:25332820, PMID:25351510, PMID:25445213, PMID:25447171, PMID:25525159, PMID:25616645, PMID:25637381, PMID:25676813, PMID:25741868, PMID:25741869, PMID:25765472, PMID:25820315, PMID:25825243, PMID:25857910, PMID:25979592, PMID:26264440, PMID:26332594, PMID:26406308, PMID:26498160, PMID:26656175, PMID:26676851, PMID:26743238, PMID:26850880, PMID:27153395, PMID:27194543, PMID:27335691, PMID:27532257, PMID:27727376, PMID:28177452, PMID:28253841, PMID:28255936, PMID:28301460, PMID:28341588, PMID:28431057, PMID:28471438, PMID:28492532, PMID:28518168, PMID:28588093, PMID:28611399, PMID:28705875, PMID:28807990, PMID:29099038, PMID:29128982, PMID:29178656, PMID:29288195, PMID:29582136, PMID:29802319, PMID:29940860, PMID:29997227, PMID:30311386, PMID:30354609, PMID:30445427, PMID:30562116, PMID:30615648, PMID:30656044, PMID:30677492, PMID:30764827, PMID:30765282, PMID:30790397, PMID:31333075, PMID:31539150, PMID:31568572, PMID:31638835 RGD:1580872, RGD:1580873 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,168...39,292,018
JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:23396983, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26498160, PMID:26656175, PMID:27296017, PMID:28492532, PMID:30775854 NCBI chr14:121,058,896...121,269,824 JBrowse link
G RYR2 ryanodine receptor 2 susceptibility ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
RGD
ClinVar
PMID:8589694, PMID:11159936, PMID:12093772, PMID:16769042, PMID:18326664, PMID:19709828, PMID:19926015, PMID:21315846, PMID:22677073, PMID:23757202, PMID:23861362, PMID:24025405, PMID:24033266, PMID:24447446, PMID:24558114, PMID:24981977, PMID:25351510, PMID:25467552, PMID:25637381, PMID:25741868, PMID:25925909, PMID:26112015, PMID:26189708, PMID:27650965, PMID:28087566, PMID:28404607, PMID:28492532 RGD:1578810, RGD:1599243 NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,245...54,406,355
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO protein:altered expression:ventricle
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
RGD
ClinVar
PMID:10973849, PMID:12354768, PMID:12820704, PMID:14523039, PMID:15466642, PMID:15840476, PMID:15840483, PMID:15851227, PMID:16325048, PMID:16414944, PMID:16540748, PMID:17161064, PMID:17210839, PMID:18071069, PMID:18361072, PMID:18452873, PMID:19412328, PMID:19841300, PMID:20129283, PMID:20403459, PMID:20539757, PMID:20875080, PMID:22373669, PMID:22378279, PMID:22581653, PMID:23008441, PMID:23098067, PMID:23178689, PMID:23503384, PMID:23631430, PMID:23805106, PMID:23861362, PMID:24033266, PMID:24653702, PMID:25163546, PMID:25351510, PMID:25741868, PMID:25829473, PMID:25904541, PMID:26066609, PMID:26159999, PMID:26209461, PMID:26467025, PMID:26633542, PMID:26749013, PMID:27041150, PMID:27287068, PMID:28069705, PMID:28265756, PMID:28492532, PMID:28781330, PMID:29032884, PMID:29574140, PMID:30084490, PMID:31333075, PMID:31568572 RGD:11352402 NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,338,124...23,438,385
JBrowse link
G SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chr12:26,356,691...26,368,561
Ensembl chr12:26,356,773...26,371,601
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:17143282, PMID:17143285, PMID:17586837, PMID:20981092, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,089,243...101,362,723
JBrowse link
G TGFB3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
RGD
ClinVar
PMID:7951245, PMID:23861362, PMID:25637381, PMID:25741868, PMID:28492532 RGD:1578811 NCBI chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,511...99,162,232
JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
RGD
ClinVar
PMID:10631146, PMID:18313022, PMID:18414213, PMID:19434073, PMID:20010364, PMID:21047201, PMID:21214875, PMID:22458570, PMID:22725725, PMID:22992668, PMID:23400628, PMID:23671136, PMID:23810883, PMID:23812740, PMID:23861362, PMID:24033266, PMID:24125834, PMID:24598986, PMID:25343256, PMID:25741868, PMID:26467025, PMID:26513349, PMID:27153395, PMID:28448657, PMID:28471438, PMID:28491673, PMID:28492532, PMID:29040414, PMID:29980933, PMID:30700137 RGD:1579676 NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,219...70,417,168
JBrowse link
G TMPO thymopoietin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:23861362, PMID:24033266, PMID:24375709, PMID:25741868, PMID:28074886, PMID:28492532, PMID:30327538 NCBI chr 5:85,317,648...85,346,528
Ensembl chr 5:85,315,477...85,346,565
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:21887725, PMID:25741868, PMID:26820365, PMID:28492532, PMID:30391667 NCBI chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,221...54,377,155
JBrowse link
G TTN titin ISO 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 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 chr15:84,226,953...84,501,320 JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:18414213, PMID:19434073, PMID:21047201, PMID:22992668, PMID:23400628, PMID:25741868, PMID:28448657 NCBI chr13:70,348,841...70,397,194
Ensembl chr13:70,348,864...70,397,782
JBrowse link
arrhythmogenic right ventricular dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:17105751, PMID:18382419, PMID:18678517, PMID:19039334, PMID:19569224, PMID:20031616, PMID:20603720, PMID:20857253, PMID:21397041, PMID:21606390, PMID:21606396, PMID:23299917, PMID:23671136, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24082139, PMID:24704780, PMID:25332820, PMID:25445213, PMID:25637381, PMID:25741868, PMID:26230511, PMID:28492532 NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,252...115,452,473
JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 4:696,355...753,859
Ensembl chr 4:685,456...753,859
JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25637381 NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,245...54,406,355
JBrowse link
G TGFB3 transforming growth factor beta 3 ISO OMIM NCBI chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,511...99,162,232
JBrowse link
arrhythmogenic right ventricular dysplasia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSG2 desmoglein 2 ISO OMIM NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,252...115,452,473
JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 ClinVar PMID:28492532 NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,193...115,503,977
JBrowse link
arrhythmogenic right ventricular dysplasia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSC2 desmocollin 2 ISO OMIM NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,916,763...115,021,305
JBrowse link
arrhythmogenic right ventricular dysplasia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JUP junction plakoglobin ISO OMIM NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,211
JBrowse link
arrhythmogenic right ventricular dysplasia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNA3 catenin alpha 3 ISO OMIM NCBI chr14:69,195,231...70,974,543
Ensembl chr14:69,200,215...70,938,204
JBrowse link
G LRRTM3 leucine rich repeat transmembrane neuronal 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 13 ClinVar NCBI chr14:70,172,460...70,352,073
Ensembl chr14:70,172,731...70,348,040
JBrowse link
Arrhythmogenic Right Ventricular Dysplasia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH2 cadherin 2 ISO OMIM NCBI chr 6:112,396,713...112,629,073
Ensembl chr 6:112,396,721...112,628,432
JBrowse link
arrhythmogenic right ventricular dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RYR2 ryanodine receptor 2 ISO OMIM NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,245...54,406,355
JBrowse link
arrhythmogenic right ventricular dysplasia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM43 transmembrane protein 43 ISO OMIM NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,219...70,417,168
JBrowse link
arrhythmogenic right ventricular dysplasia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO OMIM NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
arrhythmogenic right ventricular dysplasia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DES desmin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,103...121,435,424
JBrowse link
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507, PMID:28492532 NCBI chr 5:41,571,054...41,636,058 JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,916,763...115,021,305
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868, PMID:25820315, PMID:28492532 NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507, PMID:28492532 NCBI chr 5:41,683,265...41,879,197 JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
JBrowse link
G PKP2 plakophilin 2 ISO OMIM NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar PMID:14519435, PMID:24033266, PMID:24503780, PMID:25741868, PMID:27532257, PMID:28492532 NCBI chr18:5,475,077...5,744,761
Ensembl chr18:5,475,077...5,744,658
JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,245...54,406,355
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26567375, PMID:28492532 NCBI chr15:84,226,953...84,501,320 JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507, PMID:28492532 NCBI chr 5:41,561,563...41,584,534
Ensembl chr 5:41,561,626...41,584,818
JBrowse link
atrial standstill 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA5 gap junction protein alpha 5 ISO OMIM NCBI chr 4:99,854,129...99,871,288
Ensembl chr 4:99,854,392...99,871,288
JBrowse link
G NPPA natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,919,495...71,932,254
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Atrial standstill 1, digenic ClinVar PMID:3953067, PMID:12522116, PMID:15466643, PMID:15998690, PMID:16188595, PMID:16684018, PMID:19251209, PMID:19716085, PMID:20129283, PMID:20384651, PMID:20539757, PMID:21596231, PMID:21824921, PMID:22247482, PMID:22581653, PMID:23791817, PMID:24136861, PMID:24573164, PMID:24762805, PMID:25741868, PMID:25904541, PMID:26111534, PMID:28492532 NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,338,124...23,438,385
JBrowse link
atrial standstill 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPPA natriuretic peptide A ISO OMIM NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,919,495...71,932,254
JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO6 myosin VI ISO OMIM NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAG1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle RGD PMID:15833425 RGD:11073211 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,329...32,092,453
JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,379,695...2,456,664
JBrowse link
G SGCA sarcoglycan alpha treatment ISO OMIM
RGD
PMID:17653106 RGD:13605612 NCBI chr12:26,356,691...26,368,561
Ensembl chr12:26,356,773...26,371,601
JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr11:2,310,280...2,380,054 JBrowse link
G TUBA1A tubulin alpha 1a ISO ClinVar Annotator: match by term: ADHALINOPATHY, PRIMARY ClinVar PMID:18414213, PMID:18728072, PMID:20466733, PMID:25741868, PMID:30744660 NCBI chr 5:15,186,059...15,190,211
Ensembl chr 5:15,149,099...15,269,267
JBrowse link
Cardiac Conduction Disease with or without Dilated Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO DNA:missense mutations:cds:multiple (human) RGD PMID:10580070 RGD:11066902 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G LOC102164667 serine/threonine-protein kinase TNNI3K ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy ClinVar PMID:24925317, PMID:25741868, PMID:29355681, PMID:30010057 NCBI chr 6:138,634,770...138,914,194 JBrowse link
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO OMIM NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:16253912, PMID:22581653, PMID:28492532 NCBI chr 8:109,306,793...109,661,970 JBrowse link
G CALM1 calmodulin 1 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar PMID:23040497, PMID:23388215, PMID:24563457, PMID:24816216, PMID:25557436, PMID:25741868, PMID:26164367, PMID:26309258, PMID:27165696, PMID:28492532 NCBI chr 7:112,160,823...112,171,754
Ensembl chr 7:112,154,880...112,171,744
JBrowse link
G CASQ2 calsequestrin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
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
ClinVar
PMID:19398665, PMID:21618644, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 4:104,918,204...104,984,019
Ensembl chr 4:104,918,501...104,999,787
JBrowse link
G DMPK DM1 protein kinase ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 6:52,100,259...52,110,822
Ensembl chr 6:52,100,261...52,110,059
JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:17105751, PMID:18678517, PMID:19039334, PMID:20031616, PMID:20031617, PMID:20716751, PMID:20864495, PMID:21606390, PMID:23810883, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25741868, PMID:28492532 NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,252...115,452,473
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:28492532 NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr18:6,242,826...6,279,154
Ensembl chr18:6,243,524...6,279,111
JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,446...78,224,365
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:12376891, PMID:12467752, PMID:14597414, PMID:15372542, PMID:17107595, PMID:19524666, PMID:23861362, PMID:23977161, PMID:24033266, PMID:24623722, PMID:24794538, PMID:25448463, PMID:25741868, PMID:28492532, PMID:28531892 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G MYBPC3 myosin binding protein C3 ISO 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 chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,539...15,270,104
JBrowse link
G RYR2 ryanodine receptor 2 ISO OMIM NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,245...54,406,355
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:15840476, PMID:19841300, PMID:20129283, PMID:22581653, PMID:23805106, PMID:24033266, PMID:25351510, PMID:25741868, PMID:25904541, PMID:28492532 NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,338,124...23,438,385
JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,981...109,019,440
JBrowse link
G TRDN triadin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:39,180,544...39,567,245
Ensembl chr 1:39,180,879...39,567,240
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,221...54,377,155
JBrowse link
Chagas Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 treatment ISO RGD PMID:24055715 RGD:7364866 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G MBL2 mannose binding lectin 2 severity ISO RGD PMID:26745156 RGD:11076757 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G PCNA proliferating cell nuclear antigen ISO protein:increased expression:myocardium: RGD PMID:12435130 RGD:10448990 NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,125,814...14,185,276
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma disease_progression ISO mRNA:increased expression:heart (human)
mRNA:increased expression:heart (mouse)
RGD PMID:29666415 RGD:38599151 NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
JBrowse link
Danon disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:98,234,469...98,255,396 JBrowse link
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:98,514,286...98,535,154
Ensembl chr  X:98,514,305...98,535,152
JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO OMIM NCBI chr  X:98,586,718...98,623,939
Ensembl chr  X:98,582,059...98,623,908
JBrowse link
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:98,219,717...98,223,873
Ensembl chr  X:98,218,876...98,223,796
JBrowse link
G NKAP NFKB activating protein ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:98,233,504...98,276,839
Ensembl chr  X:98,227,659...98,276,812
JBrowse link
G RNF113A ring finger protein 113A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:98,218,689...98,219,931
Ensembl chr  X:98,218,565...98,219,773
JBrowse link
G TMEM255A transmembrane protein 255A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:98,412,286...98,464,683
Ensembl chr  X:98,413,948...98,464,660
JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:98,184,646...98,206,135
Ensembl chr  X:98,182,269...98,206,097
JBrowse link
G ZBTB33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:98,370,137...98,413,686
Ensembl chr  X:98,397,279...98,411,032
JBrowse link
Diabetic Cardiomyopathies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:21742475 RGD:10046044 NCBI chr 5:62,406,928...62,483,690
Ensembl chr 5:62,438,017...62,485,537
JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:22595130 RGD:9685456 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ACE2 angiotensin I converting enzyme 2 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:22595130 RGD:9685456 NCBI chr  X:12,099,849...12,152,204
Ensembl chr  X:12,099,853...12,151,275
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum RGD PMID:24669271 RGD:8695938 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G ADIPOR1 adiponectin receptor 1 ISO associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum RGD PMID:24669271 RGD:8695938 NCBI chr10:24,907,491...24,923,540 JBrowse link
G AGER advanced glycosylation end-product specific receptor treatment ISO associated with Diabetes Mellitus, Experimental;
associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:heart (rat)
RGD PMID:23251674 RGD:7244283 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:29353218 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15587404, PMID:16025228 NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388
JBrowse link
G APOA1 apolipoprotein A1 ISO CTD Direct Evidence: therapeutic CTD PMID:18332268 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,393...44,218,978
JBrowse link
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO associated with Diabetes Mellitus, Experimental
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16685413, PMID:21441944 RGD:6771209 NCBI chr14:31,674,659...31,744,981
Ensembl chr14:31,674,757...31,744,973
JBrowse link
G ATP7A ATPase copper transporting alpha treatment ISO RGD PMID:24927960 RGD:11341676 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,874...62,110,058
JBrowse link
G BAD BCL2 associated agonist of cell death treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:21296063 RGD:10053697 NCBI chr 2:7,831,192...7,842,864
Ensembl chr 2:7,830,920...7,842,863
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Experimental;protein:increased phosphorylation:myocardium (mouse)
RGD PMID:21296063, PMID:21474815 RGD:10053697, RGD:11522727 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:28992627 RGD:13782299 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,749...45,763,773
JBrowse link
G CASP8 caspase 8 treatment ISO RGD PMID:28992627 RGD:13782299 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,470
JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:28992627 RGD:13782299 NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,515...74,730,092
JBrowse link
G CASQ2 calsequestrin 2 ISO associated with Diabetes Mellitus, Experimental RGD PMID:21441944 RGD:6771209 NCBI chr 4:104,918,204...104,984,019
Ensembl chr 4:104,918,501...104,999,787
JBrowse link
G CASR calcium sensing receptor ISO protein:decreased expression:myocardium (rat) RGD PMID:22137362 RGD:7205677 NCBI chr13:138,279,785...138,364,934
Ensembl chr13:138,280,363...138,364,253
JBrowse link
G CFL1 cofilin 1 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:27576917 RGD:11568692 NCBI chr 2:6,471,558...6,475,019
Ensembl chr 2:6,469,254...6,475,035
JBrowse link
G CTNNB1 catenin beta 1 ISO mRNA,protein:increased expression:heart RGD PMID:25586361 RGD:13524855 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,137,173...25,208,311
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium RGD PMID:22285193 RGD:10449013 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium RGD PMID:22285193 RGD:10449013 NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,973,037...114,696,375
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:23453443, PMID:23853776 RGD:10412713, RGD:9586347
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11375343 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:23843977 RGD:7247697 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G INS insulin ISO CTD Direct Evidence: therapeutic CTD PMID:20828608 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
JBrowse link
G KLK1 kallikrein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16129698 NCBI chr 6:55,570,632...55,576,398
Ensembl chr 6:55,570,630...55,576,637
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:25907942 RGD:13800893 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,523
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:25907942 RGD:13800893 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
JBrowse link
G MYLK2 myosin light chain kinase 2 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:9005973 RGD:1580244 NCBI chr17:35,499,828...35,513,096
Ensembl chr17:35,499,908...35,513,088
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:23353773, PMID:23453443 RGD:10412713, RGD:10412721 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,648...83,146,183
JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:29274332 RGD:13504685 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G NPPA natriuretic peptide A treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:23497378 RGD:7297056 NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,919,495...71,932,254
JBrowse link
G NRG1 neuregulin 1 ISO associated with Diabetes Mellitus, Experimental;protein:decreased expresssion:left ventricle myocardium RGD PMID:22285193 RGD:10449013 NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,627,334...53,688,332
JBrowse link
G PLN phospholamban ISO associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle RGD PMID:22185592 RGD:7327207 NCBI chr 1:43,449,354...43,458,925 JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO Strain: ZDF RGD PMID:19317897 RGD:5509944 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,708...3,366,361
JBrowse link
G RYR2 ryanodine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16685413 NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,245...54,406,355
JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO CTD Direct Evidence: therapeutic CTD PMID:18945756 NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,699...46,200,994
JBrowse link
G SLC8A1 solute carrier family 8 member A1 treatment ISO RGD PMID:27058979 RGD:13628396 NCBI chr 3:99,823,503...100,257,306
Ensembl chr 3:99,897,162...100,245,140
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16980342 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
JBrowse link
G TERT telomerase reverse transcriptase treatment ISO associated with Diabetes Mellitus, Type 2 RGD PMID:21264070 RGD:11038677 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17909696 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G XDH xanthine dehydrogenase treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:23843977 RGD:7247697 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,986,528...108,080,151
JBrowse link
dilated cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:30311386 NCBI chr 7:39,301,020...39,314,296
Ensembl chr 7:39,299,460...39,313,778
JBrowse link
G ABCC6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:11439001, PMID:16086317, PMID:22209248, PMID:24088041, PMID:26633545, PMID:30311386 NCBI chr 3:28,260,935...28,356,706 JBrowse link
G ABCC9 ATP binding cassette subfamily C member 9 susceptibility ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
RGD
ClinVar
PMID:12166651, PMID:15034580, PMID:20474083, PMID:24033266, PMID:25741868, PMID:28492532 RGD:1300328 NCBI chr 5:51,536,531...51,673,583
Ensembl chr 5:51,536,526...51,673,583
JBrowse link
G ABRA actin binding Rho activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chr 4:30,712,238...30,719,495
Ensembl chr 4:30,712,238...30,721,193
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:21932095, PMID:25087612, PMID:25741868, PMID:26385305, PMID:28468868, PMID:28492532 NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,401...52,581,755
JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 no_association ISO DNA:insertion/deletion:intron RGD PMID:9270088 RGD:1566491 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ACTC1 actin alpha cardiac muscle 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
CTD
ClinVar
RGD
PMID:9563954, PMID:10966831, PMID:12860912, PMID:14729850, PMID:15058760, PMID:16267253, PMID:16611632, PMID:17611253, PMID:17623677, PMID:17916152, PMID:17947298, PMID:18379140, PMID:18400036, PMID:18506004, PMID:18519860, PMID:18801786, PMID:19184181, PMID:19467449, PMID:19799913, PMID:20497191, PMID:20965760, PMID:21297463, PMID:21524215, PMID:21551322, PMID:21622575, PMID:22464770, PMID:24033266, PMID:24461919, PMID:24736382, PMID:25201647, PMID:25741868, PMID:27139165, PMID:28492532 RGD:1559158 NCBI chr 1:136,281,119...136,286,551
Ensembl chr 1:136,281,167...136,286,545
JBrowse link
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar PMID:14567970, PMID:17097056, PMID:20022194, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25224718, PMID:25741868, PMID:26899768, PMID:27287556, PMID:27896284, PMID:28492532 NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,779
JBrowse link
G ADRB1 adrenoceptor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9554809, PMID:18287209 RGD:5129132 NCBI chr14:124,400,330...124,401,739
Ensembl chr14:124,400,189...124,401,739
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:11986409, PMID:18287209 RGD:5129132 NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,032,782...150,035,591
JBrowse link
G AGT angiotensinogen no_association
treatment
ISO DNA:polymorphisms: :p.T174M, p.M235T (human) RGD PMID:9270088, PMID:22120037 RGD:1566491, RGD:8549486 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G AGTR1 angiotensin II receptor type 1 treatment ISO RGD PMID:20886512, PMID:22120037 RGD:5129198, RGD:8549486 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,131
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO protein:increased expression:heart
mRNA, protein:increased expression:heart left ventricle
RGD PMID:9815151, PMID:22120037 RGD:6903900, RGD:8549486 NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388
JBrowse link
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 9:71,895,615...72,054,898
Ensembl chr 9:71,895,630...72,054,897
JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447358 NCBI chr 3:69,253,742...69,417,043
Ensembl chr 3:69,253,748...69,417,397
JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar PMID:23861362, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:109,306,793...109,661,970 JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO DNA:missense mutations:multiple (human)
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
RGD
ClinVar
PMID:18273862, PMID:19525294, PMID:19608030, PMID:19608031, PMID:22337857, PMID:22388920, PMID:22892539, PMID:23299917, PMID:23572067, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25089522, PMID:25741868, PMID:27143260, PMID:27532257, PMID:28492532, PMID:28672880, PMID:28794111, PMID:29447731 RGD:5133277 NCBI chr14:102,603,777...102,612,857
Ensembl chr14:102,603,777...102,612,839
JBrowse link
G ANKRD37 ankyrin repeat domain 37 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr15:46,445,789...46,450,046
Ensembl chr15:46,445,760...46,450,097
JBrowse link
G AP3M1 adaptor related protein complex 3 subunit mu 1 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar NCBI chr14:76,813,158...76,835,674
Ensembl chr14:76,801,005...76,835,678
JBrowse link
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: Familial dilated cardiomyopathy ClinVar PMID:14732481, PMID:21408211, PMID:24033266, PMID:25741868, PMID:26332594, PMID:26467025, PMID:27153395, PMID:28008009, PMID:28492532, PMID:30270084 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G APOE apolipoprotein E susceptibility ISO RGD PMID:16714771 RGD:1601240 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G ATM ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24358288 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,554
JBrowse link
G ATP6 ATP synthase F0 subunit 6 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:24088041, PMID:26633545 NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800
JBrowse link
G AXIN2 axin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr12:12,311,293...12,343,207
Ensembl chr12:12,311,293...12,343,200
JBrowse link
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar PMID:2159883, PMID:21353195, PMID:21459883, PMID:21898660, PMID:22337857, PMID:23861362, PMID:24033266, PMID:24558114, PMID:24623017, PMID:25008357, PMID:25448463, PMID:25728519, PMID:25741868, PMID:25925243, PMID:26467025, PMID:27042682, PMID:27896284, PMID:28436997, PMID:28492532, PMID:28737513, PMID:28798025, PMID:30012837, PMID:31333075, PMID:31568572 NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,510,293...129,533,996
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:23980359, PMID:26004897 RGD:10054117, RGD:13782348 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,187,260...54,228,144
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO RGD PMID:26004897 RGD:13782348 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G BCL2L1 BCL2 like 1 ISO RGD PMID:26004897 RGD:13782348 NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,141...35,415,359
JBrowse link
G C15H4orf47 chromosome 15 C4orf47 homolog ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr15:46,470,680...46,612,173
Ensembl chr15:46,470,723...46,490,006
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar PMID:23677916, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 5:69,016,954...69,448,428 JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr10:44,321,954...44,887,410
Ensembl chr10:44,421,666...44,885,424
JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 susceptibility ISO DNA:SNPs:introns: RGD PMID:29495422 RGD:13515053 NCBI chr15:402,801...455,691
Ensembl chr15:186,315...459,856
JBrowse link
G CALR3 calreticulin 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:61,105,307...61,136,060
Ensembl chr 2:61,105,303...61,134,961
JBrowse link
G CASP3 caspase 3 ISO RGD PMID:26004897 RGD:13782348 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,749...45,763,773
JBrowse link
G CASP8 caspase 8 ISO RGD PMID:26004897 RGD:13782348 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,470
JBrowse link
G CASP9 caspase 9 ISO RGD PMID:26004897 RGD:13782348 NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,515...74,730,092
JBrowse link
G CASQ2 calsequestrin 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:20530761, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532 NCBI chr 4:104,918,204...104,984,019
Ensembl chr 4:104,918,501...104,999,787
JBrowse link
G CAT catalase ISO RGD PMID:10652196 RGD:1581150 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CCDC110 coiled-coil domain containing 110 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr15:46,494,535...46,503,676 JBrowse link
G CD27 CD27 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 5:64,197,594...64,202,236
Ensembl chr 5:64,188,183...64,202,613
JBrowse link
G CD36 CD36 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:10981864 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:9495297 RGD:13702889 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD70 CD70 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 2:72,528,988...72,531,950
Ensembl chr 2:72,528,527...72,533,717
JBrowse link
G CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:12610310, PMID:12639993, PMID:16235537, PMID: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 1:43,392,630...43,564,835
Ensembl chr 1:43,392,645...43,563,695
JBrowse link
G CFAP97 cilia and flagella associated protein 97 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr15:46,207,781...46,257,478
Ensembl chr15:46,236,003...46,267,521
JBrowse link
G CHRM2 cholinergic receptor muscarinic 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:23408450, PMID:24033266, PMID:28492532 NCBI chr18:12,455,139...12,600,314
Ensembl chr18:12,455,150...12,600,249
JBrowse link
G COMT catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,133...51,403,998
JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO RGD PMID:9616213 RGD:734815 NCBI chr15:110,705,548...110,773,037
Ensembl chr15:110,697,408...110,771,755
JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:19597569, PMID:26402864, PMID:28492532 NCBI chr 9:39,638,505...39,643,530
Ensembl chr 9:39,638,502...39,643,530
JBrowse link
G CRYBB2 crystallin beta B2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:30311386 NCBI chr14:43,206,138...43,220,833
Ensembl chr14:43,208,823...43,220,837
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17334414 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,445...22,342,163
JBrowse link
G CSRNP1 cysteine and serine rich nuclear protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chr13:23,833,130...23,845,198
Ensembl chr13:23,833,133...23,845,215
JBrowse link
G CSRP3 cysteine and glycine rich protein 3 ISO DNA:missense mutation:cds:p.W4R (human)
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
RGD
ClinVar
PMID:9039266, PMID:9637704, PMID:12507422, PMID:14567970, PMID:15781201, PMID:16352453, PMID:17084280, PMID:18505755, PMID:20044516, PMID:20474083, PMID:23396983, PMID:23861362, PMID:24033266, PMID:25741868, PMID:26656175, PMID:28492532 RGD:734837, RGD:734841 NCBI chr 2:40,219,288...40,240,614
Ensembl chr 2:40,215,353...40,240,618
JBrowse link
G CTNNA3 catenin alpha 3 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr14:69,195,231...70,974,543
Ensembl chr14:69,200,215...70,938,204
JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20376467, PMID:29394407 RGD:13524857 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,137,173...25,208,311
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15322218 RGD:1598502 NCBI chr  X:57,592,032...57,595,706
Ensembl chr  X:57,592,038...57,595,692
JBrowse link
G CYTB cytochrome b ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:24088041, PMID:26633545 NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481
JBrowse link
G DES desmin ISO DNA:mutation:cds:c.679C>T(p.R227C)(human)
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated cardiomyopathy
protein:altered expression:cardiomyocyte:
RGD
ClinVar
PMID:10591032, PMID:10717012, PMID:11073539, PMID:12620971, PMID:14724127, PMID:15800015, PMID:17221859, PMID:17325244, PMID:17439987, PMID:17720647, PMID:18061454, PMID:18653338, PMID:19151983, PMID:19587455, PMID:19716701, PMID:19763525, PMID:19879535, PMID:20171226, PMID:20423733, PMID:20448486, PMID:20474083, PMID:20696008, PMID:22106715, PMID:22153487, PMID:22215463, PMID:22275259, PMID:22403400, PMID:22484823, PMID:23155419, PMID:23349452, PMID:23815709, PMID:23861362, PMID:24033266, PMID:24088041, PMID:2450378