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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 heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. (DO)
Synonyms:exact_synonym: 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;   cardiomyopathies;   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
 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 Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:33171190 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33171190 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by synonym: Cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy
ClinVar PMID:9536098 PMID:12166651 PMID:16563363 PMID:17245405 PMID:17576681 More... NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33171190 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
JBrowse link
G Ace2 angiotensin I converting enzyme 2 ISO CTD Direct Evidence: therapeutic CTD PMID:28445944 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISS MouseDO NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541
JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:9563954 PMID:10494087 PMID:10966831 PMID:11052860 More... NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by synonym: Cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy
ClinVar PMID:9536098 PMID:14567970 PMID:17097056 PMID:17576681 PMID:20022194 More... NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
JBrowse link
G Adam10 ADAM metallopeptidase domain 10 IEP RGD PMID:24244825 RGD:13702879 NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
JBrowse link
G Adcy5 adenylate cyclase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18029912 PMID:23536361 NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20378996 NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773
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 PMID:23723143 RGD:5686895, RGD:8695930, RGD:8695930 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: therapeutic CTD PMID:20363887 NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25193472 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:12145768 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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 NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24448315 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Alpk3 alpha-kinase 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28630369 NCBI chr 1:135,014,455...135,062,294
Ensembl chr 1:135,014,499...135,062,302
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:15075330 PMID:15178757 PMID:16253912 PMID:17161064 PMID:17242276 More... NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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 More... NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by synonym: Cardiomyopathy ClinVar NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:29068127 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G Aqp2 aquaporin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12145768 NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468
JBrowse link
G Atf3 activating transcription factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:25136830 NCBI chr13:102,751,278...102,800,520
Ensembl chr13:102,751,321...102,764,631
JBrowse link
G Atp5f1b ATP synthase F1 subunit beta treatment IEP mRNA:increased expression:heart (rat) RGD PMID:17229387 RGD:13792652 NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
JBrowse link
G Avp arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12145768 NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12145768 NCBI chr  X:151,633,501...151,636,000
Ensembl chr  X:151,633,522...151,635,989
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:27042682 PMID:28166811 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10614985 NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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 More... NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12034872 PMID:17881003 PMID:18543230 PMID:19709828 PMID:20530761 More... NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
JBrowse link
G Casr calcium-sensing receptor IDA associated with Uremia RGD PMID:19188910 RGD:7205661 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
JBrowse link
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:11800590 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536092 PMID:11251997 PMID:11884389 PMID:14672715 PMID:15099591 More... NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
JBrowse link
G Cbr1 carbonyl reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11016643 NCBI chr11:32,860,618...32,862,981
Ensembl chr11:32,908,950...32,911,393
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:myocardium RGD PMID:18806609 RGD:2307006 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Cd36 CD36 molecule treatment ISO RGD PMID:17363697 RGD:11040927 NCBI chr 4:17,317,343...17,410,084 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 More... NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18451336 NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261
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 More... NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
JBrowse link
G Cs citrate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14568902 NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421
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 More... NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653
JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
JBrowse link
G Des desmin ISO
ISS
ClinVar Annotator: match by term: Cardiomyopathy ClinVar
MouseDO
PMID:9536098 PMID:14724127 PMID:15477095 PMID:16217025 PMID:16519886 More... NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO RGD PMID:21220706 RGD:10400890 NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
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 More... NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO protein:increased expression:heart (mouse) RGD PMID:32051532 RGD:126925233 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by synonym: Cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar PMID:7971964 PMID:9536098 PMID:16199547 PMID:17033975 PMID:17186466 More... NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:16025435 PMID:16199547 PMID:16505173 PMID:16773573 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by synonym: Cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy
ClinVar PMID:9536098 PMID:10395892 PMID:11063735 PMID:11841538 PMID:15210133 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar
RGD
PMID:24033266 PMID:28492532 PMID:11238270 RGD:1580893 NCBI chr18:14,687,193...14,944,232
Ensembl chr18:14,587,852...14,944,261
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11589785 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:20474083 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26467025 More... NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G Ep300 E1A binding protein p300 ISO protein:increased expression:heart left ventricle, nucleus (human) RGD PMID:20375365 RGD:7364750 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Epg5 ectopic P-granules autophagy protein 5 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23222957 NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16449733 PMID:16731534 PMID:17924179 PMID:17928571 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10716473 PMID:10920071 PMID:17943461 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:16324756 PMID:17943461 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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 More... NCBI chr 9:45,388,979...45,462,530
Ensembl chr 9:45,388,981...45,431,192
JBrowse link
G Fkbp1b FKBP prolyl isomerase 1B IEP associated with Diabetes Mellitus, Experimental RGD PMID:19000375 RGD:2302065 NCBI chr 6:27,832,128...27,850,600
Ensembl chr 6:27,838,802...27,848,653
JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:16368217 PMID:21816046 PMID:24556424 PMID:25741868 PMID:26467025 More... NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:14627679 PMID:17878207 PMID:21102627 PMID:25741868 PMID:26467025 More... NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25466677 PMID:25741868 PMID:27183828 PMID:28492532 PMID:29149851 More... NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836
JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:2393552 PMID:7504405 PMID:8411052 PMID:8807334 PMID:8875188 More... NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 IEP mRNA:decreased expression:myocardium (rat) RGD PMID:20733562 RGD:13504856 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633
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 chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:17008600 NCBI chr 1:201,581,480...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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 More... NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
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 PMID:23861158 RGD:10755538, RGD:10755538 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:16109756 PMID:18083897 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12967636 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Hspe1 heat shock protein family E (Hsp10) member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12967636 NCBI chr 9:56,589,912...56,593,000
Ensembl chr 9:56,589,789...56,593,089
JBrowse link
G Htra2 HtrA serine peptidase 2 ISO RGD PMID:22976834 RGD:10402865 NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
JBrowse link
G Ifng interferon gamma ISS MouseDO NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP associated with Diabetes Mellitus, Experimental;mRNA:increased expression:myocardium RGD PMID:17686258 RGD:2311503 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7578376 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10716473 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Ilk integrin-linked kinase ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140
JBrowse link
G Insr insulin receptor ISO RGD PMID:11877471 RGD:1302524 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G Itga7 integrin subunit alpha 7 treatment IMP RGD PMID:15632017 RGD:13601980 NCBI chr 7:1,360,125...1,388,886
Ensembl chr 7:1,359,940...1,388,450
JBrowse link
G Itgb1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195
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 chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904
JBrowse link
G Jup junction plakoglobin ISO Naxos disease, OMIM:601214
ClinVar Annotator: match by term: Cardiomyopathy
ClinVar
RGD
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:10902626 RGD:1600286 NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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 More... NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
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 More... NCBI chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020
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 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
JBrowse link
G Klk1 kallikrein 1 ISO associated with Diabetes Mellitus, Experimental RGD PMID:15117887 RGD:1641802 NCBI chr 1:94,642,722...94,646,714
Ensembl chr 1:94,642,687...94,646,754
JBrowse link
G Klk1c12 kallikrein 1-related peptidase C12 ISO associated with Diabetes Mellitus, Experimental RGD PMID:15117887 RGD:1641802 NCBI chr 1:94,378,103...94,382,140
Ensembl chr 1:94,378,054...94,382,176
JBrowse link
G Kras KRAS proto-oncogene, GTPase no_association ISO RGD PMID:24259500 RGD:11568677 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:17646580 PMID:20890277 PMID:23861362 More... NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
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 More... NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:11696561 PMID:14662268 PMID:15668942 PMID:16476425 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
JBrowse link
G Ldha lactate dehydrogenase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15231041 NCBI chr 1:97,371,823...97,381,247
Ensembl chr 1:97,366,021...97,433,472
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:33345901 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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 More... NCBI chr 1:154,504,563...154,506,890
Ensembl chr 1:154,504,563...154,506,890
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by synonym: Cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy
ClinVar PMID:2007407 PMID:2280636 PMID:2526018 PMID:9536098 PMID:10080180 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G LOC100910714 60S ribosomal protein L36a-like ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:2393552 PMID:7504405 PMID:8411052 PMID:8807334 PMID:8875188 More... NCBI chr13:4,300,010...4,300,535 JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10533957 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
JBrowse link
G Lrp1 LDL receptor related protein 1 ISS MouseDO NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18342293 NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:10620750 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Mapk11 mitogen-activated protein kinase 11 ISO CTD Direct Evidence: therapeutic CTD PMID:10620750 NCBI chr 7:120,218,471...120,225,488
Ensembl chr 7:120,218,478...120,225,395
JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10620750 NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:10620750 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:29068127 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G Mif macrophage migration inhibitory factor IDA associated with Endotoxemia RGD PMID:15879312 RGD:1641991 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
JBrowse link
G Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:27799064 PMID:28492532 NCBI chr15:34,926,198...35,051,722
Ensembl chr15:34,926,207...35,051,727
JBrowse link
G Mir433 microRNA 433 ISO RGD PMID:27698941 RGD:14700802 NCBI chr 6:128,545,119...128,545,211
Ensembl chr 6:128,545,112...128,545,217
JBrowse link
G Mlycd malonyl-CoA decarboxylase ISO malonyl-CoA decarboxylase deficiency, OMIM:248360 RGD PMID:10455107 RGD:1600798 NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:16681691 RGD:1581215 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:16681691 PMID:21810612 RGD:1581215, RGD:13204757 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:14568902 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G mt-Tl1 mitochondrially encoded tRNA leucine 1 ISO RGD PMID:7906985 RGD:1580746
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1853307 PMID:2073894 PMID:2732257 PMID:2943217 PMID:3140859 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by synonym: Cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy
ClinVar PMID:15998695 PMID:20215591 PMID:20656787 PMID:22194935 PMID:22361390 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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
ClinVar Annotator: match by synonym: Cardiomyopathy
ClinVar
RGD
PMID:1430197 PMID:1472461 PMID:1552912 PMID:1638703 PMID:1739523 More... RGD:1580928 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:8673105 PMID:9536098 PMID:9673982 PMID:9724616 PMID:10948063 More... NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983
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 More... NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816
JBrowse link
G Myl4 myosin, light chain 4 ISO
IMP
human gene in rat model RGD PMID:29080865 PMID:29080865 RGD:40902867, RGD:40902867 NCBI chr10:89,449,456...89,485,365
Ensembl chr10:89,449,443...89,485,363
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 More... NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728
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 chr18:36,705,244...36,724,849
Ensembl chr18:36,705,314...36,724,841
JBrowse link
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:17434779 PMID:19472918 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr 2:211,141,463...211,168,202
Ensembl chr 2:211,141,463...211,168,221
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18006477 PMID:20801532 PMID:22286171 PMID:23861362 PMID:24033266 More... NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO mRNA, protein:alternative form, increased expression:heart RGD PMID:23462508 RGD:40924663 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr 9:105,690,454...105,710,669
Ensembl chr 9:105,690,455...105,710,713
JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:28492532 NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210
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 More... NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342
JBrowse link
G Nos1 nitric oxide synthase 1 IEP associated with Diabetes Mellitus, Experimental;protein:increased expression:cardiomyocyte RGD PMID:17721248 RGD:1642134 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility IEP
ISO
associated with Diabetes Mellitus, Experimental;protein:decreased expression:heart
associated with Beta-Thalassemia;DNA:repeats:intron:
RGD PMID:17589825 PMID:25699607 RGD:1642825, RGD:11533642 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:14745153 PMID:16127512 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006
JBrowse link
G Olr1 oxidized low density lipoprotein receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16055083 NCBI chr 4:162,926,436...162,949,057
Ensembl chr 4:162,926,439...162,948,523
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase onset ISO RGD PMID:23316298 RGD:7800701 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Pde2a phosphodiesterase 2A IEP associated with Liver Cirrhosis;mRNA:increased expression:cardiac myocyte: RGD PMID:19003918 RGD:10449440 NCBI chr 1:155,823,590...155,915,434
Ensembl chr 1:155,813,180...155,915,434
JBrowse link
G Pdk2 pyruvate dehydrogenase kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chr10:79,972,550...79,987,074
Ensembl chr10:79,972,556...79,987,085
JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:2163603 PMID:2412583 PMID:9536098 PMID:15489853 PMID:16101641 More... NCBI chr11:84,661,783...84,727,730 JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12610310 PMID:12639993 PMID:16235537 PMID:17655857 PMID:18056057 More... NCBI chr20:32,629,537...32,639,559 JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO RGD PMID:17310215 RGD:8694182 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6143199 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO associated with Muscular Dystrophies RGD PMID:22549409 RGD:11069993 NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20075336 NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISS MouseDO NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Ppp1r1a protein phosphatase 1, regulatory (inhibitor) subunit 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20071777 NCBI chr 7:134,654,578...134,662,236
Ensembl chr 7:134,654,579...134,662,230
JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543
JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: PRKAG2 cardiac syndrome
ClinVar Annotator: match by term: Cardiomyopathy
ClinVar PMID:9536098 PMID:10355918 PMID:10820940 PMID:11407343 PMID:11827995 More... NCBI chr 4:10,010,574...10,252,152
Ensembl chr 4:10,010,890...10,252,142
JBrowse link
G Prkce protein kinase C, epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:15242976 NCBI chr 6:7,965,048...8,451,966
Ensembl chr 6:7,965,048...8,451,719
JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29068127 NCBI chr 6:103,323,014...103,375,088
Ensembl chr 6:103,323,120...103,371,650
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11978490 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Rad51 RAD51 recombinase treatment IDA RGD PMID:22384017 RGD:7240549 NCBI chr 3:106,099,753...106,125,038
Ensembl chr 3:106,100,381...106,125,035
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 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060
JBrowse link
G Rhoj ras homolog family member J ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chr 6:94,035,307...94,117,642
Ensembl chr 6:94,035,483...94,118,275
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO RGD PMID:12937148 RGD:1304428 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:11157710 PMID:11159936 PMID:12106942 PMID:15197150 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr 1:86,353,917...86,363,836
Ensembl chr 1:86,353,917...86,363,739
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 More... NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by synonym: Cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy
ClinVar PMID:10807545 PMID:10966831 PMID:11901046 PMID:14760488 PMID:14967853 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12746421 PMID:18285821 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr10:79,904,698...79,922,813
Ensembl chr10:79,908,738...79,922,813
JBrowse link
G Sgcb sarcoglycan, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chr14:34,563,614...34,578,614
Ensembl chr14:34,563,608...34,578,583
JBrowse link
G Sgcd sarcoglycan, delta treatment
severity
ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy
associated with Sgcd knockout
DNA:mutation:cds:p.Ser151Ala(mouse)
associated with limb-girdle muscular dystrophy
CTD
ClinVar
RGD
PMID:20675662 PMID:24033266 PMID:24503780 PMID:25281567 PMID:25741868 More... RGD:13605618, RGD:13605617, RGD:13605616 NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840
JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO DNA:frameshift mutation:cds:p.R282fsX295 (human) RGD PMID:15487009 RGD:1580608 NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
JBrowse link
G Slc30a5 solute carrier family 30 member 5 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 NCBI chr 2:31,945,745...31,975,969
Ensembl chr 2:31,945,729...31,975,934
JBrowse link
G Sod1 superoxide dismutase 1 ISO RGD PMID:15890620 RGD:1581220 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 ISO associated with hemochromatosis;DNA:polymorphism: :p.A16V (human)
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:23536361 PMID:15591282 PMID:15890620 RGD:1580836, RGD:1581220 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Srf serum response factor ISO RGD PMID:12874181 RGD:1581473 NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
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 More... NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:10618415 PMID:24448315 PMID:23619365 RGD:7495791 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr 1:160,095,108...160,096,401
Ensembl chr 1:160,095,108...160,096,376
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:16911908 PMID:18585512 PMID:19035361 PMID:19412328 PMID:20215591 More... NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887
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 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
JBrowse link
G Thpo thrombopoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16651473 Ensembl chr11:80,182,820...80,188,167 JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 IEP associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:heart myocardium, serum RGD PMID:17982970 RGD:2290406 NCBI chr10:103,541,199...103,590,611 JBrowse link
G Tlr2 toll-like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15505089 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:18313022 PMID:18414213 PMID:19467449 More... NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
JBrowse link
G Tmem70 transmembrane protein 70 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18953340 NCBI chr 5:2,637,102...2,654,729
Ensembl chr 5:2,637,102...2,654,729
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:28492532 NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
JBrowse link
G Tnf tumor necrosis factor treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:10716473 PMID:24441175 RGD:10450596 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnnc1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18572189 PMID:19439414 PMID:20459070 PMID:21056975 PMID:22489623 More... NCBI chr16:6,400,801...6,405,419
Ensembl chr16:6,402,171...6,405,634
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3144325 PMID:7592712 PMID:9241277 PMID:9536098 PMID:10098965 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by synonym: Cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2946667 PMID:7898523 PMID:8205619 PMID:8951566 PMID:9140840 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
CTD Direct Evidence: therapeutic
CTD PMID:16013437 PMID:31618665 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
JBrowse link
G Trim63 tripartite motif containing 63 ISO CTD Direct Evidence: therapeutic CTD PMID:19168726 NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322
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 More... NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO RGD PMID:8796147 RGD:1580777 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:1745277 PMID:10053013 PMID:10462489 PMID:11310621 PMID:11717165 More... NCBI chr 3:61,652,432...61,924,912 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:192115 PMID:1351039 PMID:1353008 PMID:1355416 PMID:1356051 More... NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
JBrowse link
G Txn1 thioredoxin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12221060 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28492532 NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
JBrowse link
G Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:31883641 NCBI chr17:33,977,908...33,982,478
Ensembl chr17:33,977,921...33,982,479
JBrowse link
G Uts2 urotensin 2 IEP
ISO
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium RGD PMID:18280445 PMID:12791592 RGD:2306796, RGD:1580809 NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
JBrowse link
G Uts2r urotensin 2 receptor IEP associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium RGD PMID:18280445 RGD:2306796 NCBI chr10:106,438,092...106,439,252
Ensembl chr10:106,438,092...106,439,252
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 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619
JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:15331426 PMID:15769782 PMID:16236538 PMID:17785437 PMID:22421524 More... NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:10229225 RGD:1580578 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Xdh xanthine dehydrogenase treatment IMP
IDA
associated with Cachexia
associated with Insulin Resistance
RGD PMID:23751350 PMID:25889404 RGD:7247699, RGD:13208959 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
G Ywhah tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta ISO CTD Direct Evidence: therapeutic CTD PMID:18342293 NCBI chr14:77,696,332...77,705,715
Ensembl chr14:77,696,333...77,705,741
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 ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V
ClinVar Annotator: match by OMIM:610198
OMIM
ClinVar
PMID:16055927 PMID:22797137 PMID:22981120 PMID:27928778 PMID:28492532 More... NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
JBrowse link
acute myocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd274 CD274 molecule ISO associated with Coxsackievirus Infections;protein:increased expression:ventricle: RGD PMID:17434153 RGD:40822819 NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:9495297 RGD:13702889 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Pdcd1 programmed cell death 1 severity
treatment
ISO associated with Coxsackievirus Infections; RGD PMID:17434153 PMID:17434153 RGD:40822819, RGD:40822819 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
alcoholic cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:22497828 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Nos1 nitric oxide synthase 1 IEP protein:decreased expression:skeletal muscle, membrane RGD PMID:17607508 RGD:1642138 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma IEP protein:increased expression:heart myocardium RGD PMID:18783396 RGD:2301868 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Rxra retinoid X receptor alpha IEP RGD PMID:19791468 RGD:2317465 NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
JBrowse link
G Slc25a4 solute carrier family 25 member 4 IEP mRNA, protein:decreased expression:myocardium RGD PMID:21169901 RGD:9681464 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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 ClinVar Annotator: match by term: Andersen Tawil syndrome
ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
ClinVar Annotator: match by term: Andersen Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:170390
OMIM
ClinVar
CTD
PMID:8078584 PMID:11371347 PMID:11841151 PMID:11861044 PMID:12045162 More... NCBI chr10:96,060,849...96,071,401
Ensembl chr10:96,060,821...96,071,445
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Andersen Syndrome
ClinVar Annotator: match by term: Andersen Tawil syndrome
ClinVar PMID:20560207 PMID:21311022 PMID:22203740 PMID:24574546 PMID:25741868 More... NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
JBrowse link
Apical Hypertrophic Cardiomyopathy and Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy ClinVar PMID:21686774 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy OMIM
ClinVar
PMID:21686774 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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 More... NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
JBrowse link
G Actn2 actinin alpha 2 ISO DNA:polymorphism: :
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar
RGD
PMID:25741868 PMID:11078270 RGD:13506947 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
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 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
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 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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 chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:17655857 PMID:23861362 PMID:28492532 NCBI chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015
JBrowse link
G Cdh2 cadherin 2 ISO DNA:missense mutations:cds:c.686A>C(p.Q229P), c.1219G>A (p.D407N)(human)
DNA:mutation:cds:c.1219G>A(p.D407N)(human)
RGD PMID:28280076 PMID:28326674 RGD:13524622, RGD:13524623 NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
JBrowse link
G Des desmin ISO DNA:mutation:cds:c.1203G>C (p.E401D)(human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar
RGD
PMID:24033266 PMID:25179549 PMID:25741868 PMID:28492532 PMID:29212896 RGD:13525009 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:7971964 PMID:17033975 PMID:17186466 PMID:17963498 PMID:18382419 More... NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:2040044 PMID:16025435 PMID:16199547 PMID:16505173 PMID:16773573 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar
RGD
PMID:9536098 PMID:10395892 PMID:10594734 PMID:11063735 PMID:15941723 More... RGD:1580890 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 9:45,388,979...45,462,530
Ensembl chr 9:45,388,981...45,431,192
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO protein:altered expression:ventricle
protein:decreased expression:buccal mucosa
RGD PMID:23178689 PMID:26850880 RGD:11352402, RGD:13592599 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257
JBrowse link
G Il6r interleukin 6 receptor ISO protein:increased expression:serum RGD PMID:21859801 RGD:10402826 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
protein:altered expression:ventricle
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar
RGD
PMID:24033266 PMID:24884844 PMID:25741868 PMID:28098346 PMID:28492532 More... RGD:11352402 NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:9328483 PMID:9354783 PMID:9354802 PMID:9445165 PMID:10400998 More... NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
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 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
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 chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
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 chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
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: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar
RGD
PMID:22224630 PMID:22266370 PMID:22464770 PMID:23183350 PMID:23853504 More... RGD:11056513 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:28991257 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
JBrowse link
G Myh7 myosin heavy chain 7 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:24093860 PMID:24793961 PMID:25031304 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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 chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISS MouseDO NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar
RGD
PMID:2412583 PMID:15489853 PMID:16101641 PMID:16199547 PMID:16415378 More... RGD:1580872, RGD:1580873 NCBI chr11:84,661,783...84,727,730 JBrowse link
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like ISS MouseDO NCBI chr 1:79,010,997...79,030,714
Ensembl chr 1:79,011,745...79,030,712
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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060
JBrowse link
G Ryr2 ryanodine receptor 2 susceptibility ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar
RGD
PMID:11159936 PMID:12093772 PMID:16769042 PMID:18326664 PMID:19709828 More... RGD:1599243 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
protein:altered expression:ventricle
ClinVar
RGD
PMID:10973849 PMID:12354768 PMID:12820704 PMID:14523039 PMID:15466642 More... RGD:11352402 NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:79,904,698...79,922,813
Ensembl chr10:79,908,738...79,922,813
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 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25645515 PMID:25741868 PMID:32576985 NCBI chr10:57,795,785...57,800,363
Ensembl chr10:57,795,382...57,800,363
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:18313022 PMID:18414213 PMID:19434073 PMID:19467449 PMID:20010364 More... NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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 More... NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
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 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:18414213 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr 3:61,652,432...61,924,912 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 More... NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010
JBrowse link
arrhythmogenic right ventricular dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25741868 NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
JBrowse link
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 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:24070718 PMID:25741868 PMID:28492532 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:15519027 PMID:18533079 PMID:20414521 PMID:20624503 PMID:21415409 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:84,661,783...84,727,730 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 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1
ClinVar PMID:25637381 PMID:25741868 PMID:28404607 PMID:28492532 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1
ClinVar Annotator: match by OMIM:107970
OMIM
ClinVar
PMID:12529708 PMID:15639475 PMID:23861362 PMID:25741868 PMID:25835445 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chr 3:61,652,432...61,924,912 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 ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10
ClinVar Annotator: match by OMIM:610193
OMIM
ClinVar
PMID:2040044 PMID:9536098 PMID:16025435 PMID:16199547 PMID:16505173 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 ClinVar PMID:25741868 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 ClinVar PMID:28492532 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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 ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA
ClinVar Annotator: match by OMIM:610476
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair
OMIM
ClinVar
PMID:7971964 PMID:9536098 PMID:16199547 PMID:17033975 PMID:17186466 More... NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
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 ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 OMIM
ClinVar
PMID:19863551 PMID:20031617 PMID:20857253 PMID:20864495 PMID:21606396 More... NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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 ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 13
ClinVar Annotator: match by OMIM:615616
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21254927 PMID:22421363 PMID:23136403 More... NCBI chr20:23,614,469...25,200,026 JBrowse link
G Lrrtm3 leucine rich repeat transmembrane neuronal 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 13 ClinVar NCBI chr20:24,515,627...24,689,669
Ensembl chr20:24,515,627...24,689,669
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 ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14 OMIM
ClinVar
PMID:28280076 NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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 ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2
ClinVar Annotator: match by OMIM:600996
OMIM
ClinVar
PMID:9536098 PMID:11159936 PMID:12106942 PMID:15364606 PMID:15364613 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
JBrowse link
arrhythmogenic right ventricular dysplasia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpsa ribosomal protein SA ISS OMIM:604400 MouseDO NCBI chr 8:119,851,225...119,855,103
Ensembl chr 8:119,851,225...119,855,247
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 5
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, type 5
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18313022 PMID:18414213 PMID:19467449 More... NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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 ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8
ClinVar Annotator: match by OMIM:607450
OMIM
ClinVar
PMID:9536098 PMID:10395892 PMID:10594734 PMID:11063735 PMID:12373648 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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 chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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 chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
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 chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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 chr11:84,399,885...84,551,013
Ensembl chr11:84,399,816...84,546,972
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar PMID:25741868 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:28492532 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
ClinVar Annotator: match by OMIM:609040
OMIM
ClinVar
PMID:2163603 PMID:2412583 PMID:9536098 PMID:15489853 PMID:16101641 More... NCBI chr11:84,661,783...84,727,730 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 More... NCBI chr 4:10,010,574...10,252,152
Ensembl chr 4:10,010,890...10,252,142
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9
ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26567375 More... NCBI chr 3:61,652,432...61,924,912 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 chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
JBrowse link
Atrial Dilation and Standstill term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl4 myosin, light chain 4 susceptibility ISO DNA:missense mutation:cds (c.31G>A, p.E11K) (human) RGD PMID:29080865 RGD:40902867 NCBI chr10:89,449,456...89,485,365
Ensembl chr10:89,449,443...89,485,363
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 ClinVar Annotator: match by term: Atrial standstill 1 OMIM
ClinVar
PMID:9588401 PMID:16790700 PMID:21921585 PMID:22199024 PMID:22713807 More... NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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 ClinVar Annotator: match by term: Atrial standstill 2 OMIM
ClinVar
PMID:6225642 PMID:23275345 PMID:28492532 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
JBrowse link
autoimmune myocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Ba RT1 class II, locus Ba exacerbates ISO associated with Coxsackievirus Infections RGD PMID:10364312 RGD:127285795 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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 ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22
ClinVar Annotator: match by term: Deafness, autosomal dominant 22
ClinVar Annotator: match by OMIM:606346
OMIM
ClinVar
PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 PMID:18212818 More... NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292
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 chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
JBrowse link
G Sgca sarcoglycan, alpha treatment ISO ClinVar Annotator: match by term: Sarcoglycanopathy
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D
ClinVar Annotator: match by term: Sarcoglycanopathies
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2D
ClinVar Annotator: match by OMIM:608099
OMIM
ClinVar
RGD
PMID:7657792 PMID:7663524 PMID:7668821 PMID:8069911 PMID:8528203 More... RGD:13605612 NCBI chr10:79,904,698...79,922,813
Ensembl chr10:79,908,738...79,922,813
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 chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D ClinVar PMID:18414213 PMID:18728072 PMID:20466733 PMID:25741868 PMID:29671837 More... NCBI chr 7:130,113,214...130,116,880 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 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Lrrc53 leucine rich repeat containing 53 ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy ClinVar PMID:25741868 PMID:30010057 NCBI chr 2:243,781,445...243,807,037 JBrowse link
G Tnni3k TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy OMIM
ClinVar
PMID:24925317 PMID:25741868 PMID:25791106 PMID:29355681 PMID:30010057 NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma
ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
ClinVar Annotator: match by term: Carvajal syndrome
ClinVar Annotator: match by term: Cardiomyopathy dilated with woolly hair and keratoderma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy, woolly hair, keratoderma
ClinVar Annotator: match by OMIM:605676
OMIM
ClinVar
CTD
PMID:8769422 PMID:9536098 PMID:10594734 PMID:11063735 PMID:11841538 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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 Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar PMID:16253912 PMID:22581653 PMID:28166811 PMID:28492532 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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 More... NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by OMIM:604772
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12034872 PMID:14571276 PMID:17881003 PMID:18543230 PMID:18684293 More... NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
JBrowse link
G Dmpk DM1 protein kinase ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 1:78,730,255...78,740,585
Ensembl chr 1:78,730,275...78,740,593
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:28492532 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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 chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
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 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by OMIM:604772
OMIM
ClinVar
PMID:9536098 PMID:11157710 PMID:11159936 PMID:11208676 PMID:12093772 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
JBrowse link
G Trdn triadin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595
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 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619
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 IDA RGD PMID:24055715 RGD:7364866 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il23a interleukin 23 subunit alpha ISO RGD PMID:28356392 RGD:39457935 NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923