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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: Myocardial Disease;   Myocardial Diseases;   Myocardiopathies;   Myocardiopathy;   Primary Cardiomyopathies;   Primary Cardiomyopathy;   Primary Myocardial Disease;   Primary Myocardial Diseases;   Secondary Cardiomyopathies;   Secondary Cardiomyopathy;   cardiomyopathies;   cardiomyopathy with or without skeletal myopathy;   secondary myocardial disease;   secondary myocardial diseases
 narrow_synonym: Familial Cardiomyopathy;   HYPOKINETIC NON-DILATED CARDIOMYOPATHY;   PRKAG2 Cardiac Syndrome;   TXNRD2-ASSOCIATED CARDIOMYOPATHY;   idiopathic cardiomyopathy;   viral cardiomyopathy
 related_synonym: PERSONAL AND/OR FAMILY HISTORY OF CARDIOMYOPATHY
 primary_id: MESH:D009202
 xref: EFO:0000318;   EFO:0000767;   EFO:0002629;   EFO:0002945;   ICD10CM:I42;   ICD9CM:425;   ICD9CM:425.9;   NCI:C34830;   NCI:C53654


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cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33171190 NCBI chrNW_004955432:4,911,774...5,085,349 JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33171190 NCBI chrNW_004955507:5,724,788...5,791,281
Ensembl chrNW_004955507:5,724,762...5,790,812
JBrowse link
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:12166651 PMID:16563363 PMID:17245405 PMID:17576681 More... NCBI chrNW_004955413:17,385,966...17,510,220
Ensembl chrNW_004955413:17,382,564...17,510,132
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:33171190 NCBI chrNW_004955474:12,365,903...12,408,715 JBrowse link
G Ace2 angiotensin converting enzyme 2 ISO CTD Direct Evidence: therapeutic CTD PMID:28445944 NCBI chrNW_004955519:2,591,229...2,643,705
Ensembl chrNW_004955519:2,591,248...2,633,495
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO MouseDO NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Actc1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:676951 PMID:2255271 PMID:9536098 PMID:10494087 PMID:10966831 More... NCBI chrNW_004955416:2,139,541...2,144,678
Ensembl chrNW_004955416:2,137,101...2,145,416
JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:14567970 PMID:17097056 PMID:17576681 PMID:20022194 More... NCBI chrNW_004955492:3,483,704...3,554,831
Ensembl chrNW_004955492:3,483,511...3,555,190
JBrowse link
G Adam10 ADAM metallopeptidase domain 10 ISO RGD PMID:24244825 RGD:13702879 NCBI chrNW_004955450:15,853,372...15,927,966
Ensembl chrNW_004955450:15,853,366...15,928,200
JBrowse link
G Adcy3 adenylate cyclase 3 ISO associated with Liver Cirrhosis;mRNA:decreased expression:cardiac myocyte: RGD PMID:19003918 RGD:10449440 NCBI chrNW_004955469:6,933,208...7,026,179
Ensembl chrNW_004955469:6,929,092...7,026,758
JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20378996 NCBI chrNW_004955402:9,091,927...9,099,803
Ensembl chrNW_004955402:9,091,725...9,099,803
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing disease_progression
treatment
ISO associated with inflammation; mRNA, protein:increased expression:heart, plasma
protein:decreased expression:serum
RGD PMID:21278397 PMID:23723143 RGD:5686895 RGD:8695930 NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
JBrowse link
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: therapeutic CTD PMID:20363887 NCBI chrNW_004955455:7,886,720...7,906,214
Ensembl chrNW_004955455:7,895,974...7,906,505
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25193472 NCBI chrNW_004955415:5,515,157...5,517,198
Ensembl chrNW_004955415:5,515,697...5,516,980
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:12145768 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362 PMID:25016126 PMID:25741868 PMID:28492532 NCBI chrNW_004955432:8,933,037...9,090,872
Ensembl chrNW_004955432:8,932,952...9,095,065
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24448315 NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904
JBrowse link
G Alpk3 alpha kinase 3 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:21441111 PMID:25741868 PMID:25944380 PMID:26846950 PMID:27106955 More... NCBI chrNW_004955416:14,279,831...14,322,836
Ensembl chrNW_004955416:14,277,866...14,322,838
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12571597 PMID:15075330 PMID:15178757 PMID:16253912 PMID:17161064 More... NCBI chrNW_004955457:13,624,590...13,938,427
Ensembl chrNW_004955457:13,624,413...14,076,261
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:19525294 PMID:19608030 PMID:19608031 More... NCBI chrNW_004955425:2,258,554...2,267,699
Ensembl chrNW_004955425:2,258,392...2,267,878
JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Cardiomyopathies ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298
JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:29068127 NCBI chrNW_004955407:25,725,259...25,973,582
Ensembl chrNW_004955407:25,722,849...25,974,268
JBrowse link
G Aqp2 aquaporin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12145768 NCBI chrNW_004955547:547,770...555,764
Ensembl chrNW_004955547:547,064...555,958
JBrowse link
G Atf3 activating transcription factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:25136830 NCBI chrNW_004955406:4,875,672...4,889,173
Ensembl chrNW_004955406:4,875,613...4,889,242
JBrowse link
G Atp5f1b ATP synthase F1 subunit beta treatment ISO mRNA:increased expression:heart (rat) RGD PMID:17229387 RGD:13792652 NCBI chrNW_004955458:4,188,167...4,195,575
Ensembl chrNW_004955458:4,186,461...4,195,494
JBrowse link
G Atp6v0d1 ATPase H+ transporting V0 subunit d1 ISO MouseDO NCBI chrNW_004955484:9,167,439...9,206,193
Ensembl chrNW_004955484:9,167,439...9,206,193
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12145768 NCBI chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:21353195 PMID:21361913 PMID:21459883 PMID:23582692 PMID:23861362 More... NCBI chrNW_004955551:446,322...468,329
Ensembl chrNW_004955551:446,605...469,207
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10614985 NCBI chrNW_004955438:16,514,300...16,537,160
Ensembl chrNW_004955438:16,511,759...16,537,172
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cardiomyopathies ClinVar PMID:24033266 PMID:24728327 PMID:25741868 PMID:26260725 PMID:26530882 More... NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Cardiomyopathies ClinVar PMID:23861362 PMID:25184293 PMID:25741868 PMID:26230511 PMID:26386135 More... NCBI chrNW_004955454:4,573,647...5,199,046
Ensembl chrNW_004955454:4,490,923...5,198,506
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:20817017 PMID:23414114 PMID:23861362 PMID:23874304 PMID:24033266 More... NCBI chrNW_004955429:9,642,725...9,966,175
Ensembl chrNW_004955429:9,644,053...9,966,175
JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chrNW_004955524:1,245,607...1,256,528
Ensembl chrNW_004955524:1,245,708...1,256,478
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12034872 PMID:17881003 PMID:18543230 PMID:19709828 PMID:20530761 More... NCBI chrNW_004955435:18,941,975...18,996,027
Ensembl chrNW_004955435:18,941,936...18,996,200
JBrowse link
G Casr calcium sensing receptor ISO associated with Uremia RGD PMID:19188910 RGD:7205661 NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210
JBrowse link
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:11800590 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:14672715 PMID:15099591 More... NCBI chrNW_004955561:326,008...335,911
Ensembl chrNW_004955561:325,944...335,914
JBrowse link
G Cbr1 carbonyl reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11016643 NCBI chrNW_004955407:35,351,601...35,354,510 JBrowse link
G Ccn1 cellular communication network factor 1 ameliorates ISO RGD PMID:27167338 RGD:329845560 NCBI chrNW_004955423:8,416,498...8,419,029
Ensembl chrNW_004955423:8,413,725...8,419,166
JBrowse link
G Cd36 CD36 molecule (CD36 blood group) treatment ISO RGD PMID:17363697 RGD:11040927 NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313
JBrowse link
G Cep85l centrosomal protein 85 like ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12610310 PMID:12639993 PMID:16235537 PMID:16432188 PMID:17655857 More... NCBI chrNW_004955436:1,352,481...1,482,061
Ensembl chrNW_004955436:1,393,493...1,465,373
JBrowse link
G Chrm2 cholinergic receptor muscarinic 2 ISO ClinVar Annotator: match by term: Cardiomyopathies ClinVar PMID:18451336 NCBI chrNW_004955494:5,845,581...5,975,614
Ensembl chrNW_004955494:5,847,156...5,848,556
JBrowse link
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Cardiomyopathies ClinVar PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740 NCBI chrNW_004955459:8,382,671...8,628,048
Ensembl chrNW_004955459:8,408,160...8,629,344
JBrowse link
G Cryab crystallin alpha B ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:1560021 PMID:2299599 PMID:9536098 PMID:11013455 PMID:16483541 More... NCBI chrNW_004955412:13,626,018...13,629,495
Ensembl chrNW_004955412:13,625,363...13,640,426
JBrowse link
G Cs citrate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14568902 NCBI chrNW_004955458:3,881,798...3,913,044
Ensembl chrNW_004955458:3,881,798...3,893,401
JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9039266 PMID:12507422 PMID:12642359 PMID:14567970 PMID:15781201 More... NCBI chrNW_004955476:155,913...176,122
Ensembl chrNW_004955476:154,917...176,616
JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955493:7,735,996...7,737,559 JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO MouseDO NCBI chrNW_004955440:3,456,165...3,460,024
Ensembl chrNW_004955440:3,455,153...3,460,109
JBrowse link
G Dchs1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004955414:22,331,590...22,365,761
Ensembl chrNW_004955414:22,332,059...22,351,576
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:10430757 PMID:10717012 PMID:10905661 PMID:14724127 More... NCBI chrNW_004955453:14,039,502...14,046,572
Ensembl chrNW_004955453:14,039,502...14,047,246
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO RGD PMID:21220706 RGD:10400890 NCBI chrNW_004955454:2,933,904...2,944,675
Ensembl chrNW_004955454:2,934,152...2,944,492
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:7599634 PMID:7599638 PMID:7611292 PMID:7668256 PMID:7849724 More... NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542
JBrowse link
G Dnaaf3 dynein axonemal assembly factor 3 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955567:1,030,467...1,036,562
Ensembl chrNW_004955567:1,030,691...1,036,283
JBrowse link
G Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955580:907,056...913,604
Ensembl chrNW_004955580:907,582...914,243
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO protein:increased expression:heart (mouse) RGD PMID:32051532 RGD:126925233 NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:205460 PMID:1245073 PMID:7971964 PMID:9536098 PMID:16199547 More... NCBI chrNW_004955402:18,465,631...18,496,948
Ensembl chrNW_004955402:18,464,989...18,489,475
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar PMID:271711 PMID:2569966 PMID:9536098 PMID:12586364 PMID:16025435 More... NCBI chrNW_004955402:18,826,400...18,876,188 JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome
ClinVar PMID:246676 PMID:491020 PMID:2450378 PMID:3198322 PMID:9536098 More... NCBI chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207
JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chrNW_004955502:3,175,918...3,610,823
Ensembl chrNW_004955502:3,267,527...3,610,823
JBrowse link
G Dtna dystrobrevin alpha ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955402:21,414,122...21,676,389
Ensembl chrNW_004955402:21,315,889...21,673,044
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11589785 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:19377476 PMID:20474083 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904
JBrowse link
G Ep300 E1A binding protein p300 ISO protein:increased expression:heart left ventricle, nucleus (human) RGD PMID:20375365 RGD:7364750 NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933
JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23222957 NCBI chrNW_004955402:31,422,848...31,532,189
Ensembl chrNW_004955402:31,422,848...31,532,289
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16449733 PMID:16731534 PMID:17924179 PMID:17928571 NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355
JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10716473 PMID:10920071 PMID:17943461 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:16324756 PMID:17943461 NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389
JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:17416352 PMID:24033266 PMID:25741868 PMID:26627873 PMID:27854218 More... NCBI chrNW_004955470:10,240,117...10,286,117
Ensembl chrNW_004955470:10,240,117...10,286,289
JBrowse link
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24088304 PMID:25741868 PMID:32335906 NCBI chrNW_004955402:22,822,060...23,277,993
Ensembl chrNW_004955402:22,821,710...23,279,222
JBrowse link
G Fkbp1b FKBP prolyl isomerase 1B ISO associated with Diabetes Mellitus, Experimental RGD PMID:19000375 RGD:2302065 NCBI chrNW_004955469:6,263,271...6,274,823
Ensembl chrNW_004955469:6,263,271...6,277,767
JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathies
ClinVar PMID:11741828 PMID:16344347 PMID:16368217 PMID:17994539 PMID:18832576 More... NCBI chrNW_004955574:779,672...789,621
Ensembl chrNW_004955574:786,758...788,348
JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:14627679 PMID:17878207 PMID:21102627 PMID:25741868 PMID:26467025 More... NCBI chrNW_004955419:20,933,662...20,994,793
Ensembl chrNW_004955419:20,933,662...20,994,793
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25208129 More... NCBI chrNW_004955479:9,633,817...9,661,725
Ensembl chrNW_004955479:9,633,598...9,661,777
JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25466677 PMID:25741868 PMID:27183828 PMID:28492532 PMID:29149851 More... NCBI chrNW_004955506:2,764,959...2,783,231
Ensembl chrNW_004955506:2,764,959...2,783,231
JBrowse link
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:1677356 PMID:2393552 PMID:2836863 PMID:6379599 PMID:7504405 More... NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
JBrowse link
G Gnai2 G protein subunit alpha i2 ISO associated with Liver Cirrhosis;mRNA:increased expression:cardiac myocyte: RGD PMID:19003918 RGD:10449440 NCBI chrNW_004955532:2,059,038...2,079,120
Ensembl chrNW_004955532:2,059,038...2,079,957
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO mRNA:decreased expression:myocardium (rat) RGD PMID:20733562 RGD:13504856 NCBI chrNW_004955507:5,346,937...5,370,072
Ensembl chrNW_004955507:5,346,838...5,370,072
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Cardiomyopathies ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chrNW_004955430:23,481,957...23,536,407
Ensembl chrNW_004955430:23,481,957...23,539,495
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:17008600 NCBI chrNW_004955422:18,173,438...18,192,357
Ensembl chrNW_004955422:18,170,616...18,192,412
JBrowse link
G Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004955495:7,124,060...7,143,730
Ensembl chrNW_004955495:7,124,640...7,194,223
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23623143 PMID:23861362 PMID:25145518 PMID:25145519 PMID:25642760 More... NCBI chrNW_004955450:4,139,852...4,181,377
Ensembl chrNW_004955450:4,139,852...4,181,377
JBrowse link
G Hfe homeostatic iron regulator no_association
treatment
ISO ClinVar Annotator: match by term: Cardiomyopathies
ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.H63D (human)
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.C282Y (human)
ClinVar
RGD
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... RGD:10755538 NCBI chrNW_004955483:933,269...941,070
Ensembl chrNW_004955483:932,352...941,143
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:16109756 PMID:18083897 NCBI chrNW_004955410:4,114,280...4,181,953
Ensembl chrNW_004955410:4,114,778...4,182,058
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12967636 NCBI chrNW_004955403:3,062,724...3,073,419
Ensembl chrNW_004955403:3,063,133...3,073,419
JBrowse link
G Htra2 HtrA serine peptidase 2 ISO RGD PMID:22976834 RGD:10402865 NCBI chrNW_004955424:11,255,756...11,259,170
Ensembl chrNW_004955424:11,255,756...11,259,170
JBrowse link
G Ifng interferon gamma ISO MouseDO NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO associated with Diabetes Mellitus, Experimental;mRNA:increased expression:myocardium RGD PMID:17686258 RGD:2311503 NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7578376 NCBI chrNW_004955408:4,058,052...4,065,999 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10716473 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Ilk integrin linked kinase ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955414:22,316,243...22,322,979
Ensembl chrNW_004955414:22,316,047...22,322,979
JBrowse link
G Insr insulin receptor ISO RGD PMID:11877471 RGD:1302524 NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149
JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 ISO mRNA:decreased expression:heart left ventricle RGD PMID:23619365 RGD:7495791 NCBI chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622
JBrowse link
G Irf8 interferon regulatory factor 8 ameliorates ISO RGD PMID:24526256 RGD:11251869 NCBI chrNW_004955541:973,004...988,493
Ensembl chrNW_004955541:973,022...990,106
JBrowse link
G Itga7 integrin subunit alpha 7 treatment ISO RGD PMID:15632017 RGD:13601980 NCBI chrNW_004955458:3,322,735...3,343,275
Ensembl chrNW_004955458:3,321,259...3,343,275
JBrowse link
G Itgb1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chrNW_004955462:4,454,809...4,483,227
Ensembl chrNW_004955462:4,454,809...4,484,842
JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Cardiomyopathies ClinVar PMID:22584458 PMID:23834499 PMID:24033266 PMID:25500949 PMID:25741868 More... NCBI chrNW_004955445:13,117,312...13,190,061
Ensembl chrNW_004955445:13,118,717...13,187,235
JBrowse link
G Jund JunD proto-oncogene, AP-1 transcription factor subunit ameliorates
severity
ISO associated with obesity; RGD PMID:30629164 RGD:401900736 NCBI chrNW_004955524:3,176,849...3,177,936 JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:16467215 PMID:19863551 PMID:20525856 PMID:20864495 PMID:23299917 More... NCBI chrNW_004955451:15,993,055...16,004,152
Ensembl chrNW_004955451:15,989,180...16,004,155
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:8899564 PMID:9445165 PMID:10807545 PMID:10973849 PMID:12402336 More... NCBI chrNW_004955407:33,807,581...33,814,356
Ensembl chrNW_004955407:33,807,581...33,814,356
JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: Cardiomyopathies ClinVar PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 More... NCBI chrNW_004955414:17,166,537...17,200,385
Ensembl chrNW_004955414:17,166,546...17,200,353
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Cardiomyopathies ClinVar PMID:14661677 PMID:14678125 PMID:16556865 PMID:17161064 PMID:17210839 More... NCBI chrNW_004955422:14,212,563...14,544,556
Ensembl chrNW_004955422:14,212,553...14,544,556
JBrowse link
G Klhl24 kelch like family member 24 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:27889062 PMID:28492532 PMID:30715372 NCBI chrNW_004955420:23,700,030...23,733,021
Ensembl chrNW_004955420:23,700,035...23,735,301
JBrowse link
G Klk1 kallikrein 1 ISO associated with Diabetes Mellitus, Experimental RGD PMID:15117887 RGD:1641802 NCBI chrNW_004955559:457,030...461,086
Ensembl chrNW_004955559:456,932...465,704
JBrowse link
G Kras KRAS proto-oncogene, GTPase no_association ISO RGD PMID:24259500 RGD:11568677 NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:17646580 PMID:20890277 PMID:23861362 More... NCBI chrNW_004955526:4,330,388...4,465,810
Ensembl chrNW_004955526:4,330,388...4,465,528
JBrowse link
G Lamp2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:19533775 PMID:23785128 PMID:24033266 PMID:24503780 PMID:25091525 More... NCBI chrNW_004955572:1,423,048...1,464,443
Ensembl chrNW_004955572:1,422,981...1,462,622
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:4855680 PMID:9536098 PMID:11696561 PMID:14662268 PMID:15668942 More... NCBI chrNW_004955510:5,738,254...5,793,643
Ensembl chrNW_004955510:5,738,041...5,790,557
JBrowse link
G Ldha lactate dehydrogenase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15231041 NCBI chrNW_004955414:33,087,745...33,100,846 JBrowse link
G Lemd2 LEM domain nuclear envelope protein 2 ISO MouseDO NCBI chrNW_004955437:2,163,977...2,178,783
Ensembl chrNW_004955437:2,163,878...2,176,665
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:33345901 NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome
ClinVar PMID:262236 PMID:2007407 PMID:2280636 PMID:2338570 PMID:2526018 More... NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
G LOC102014998 cytochrome b-c1 complex subunit Rieske, mitochondrial ISO ClinVar Annotator: match by term: Cardiomyopathies ClinVar PMID:31883641 NCBI chrNW_004955468:8,331,153...8,338,628
Ensembl chrNW_004955468:8,331,153...8,338,628
JBrowse link
G LOC102017801 cytochrome c oxidase assembly protein COX15 homolog ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004955507:5,600,605...5,617,556
Ensembl chrNW_004955507:5,600,605...5,617,556
JBrowse link
G LOC102026964 chromosome unknown open reading frame, human C2orf49 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 PMID:31333075 More... NCBI chrNW_004955470:10,223,467...10,234,309
Ensembl chrNW_004955470:10,223,467...10,234,309
JBrowse link
G LOC102027002 lanosterol 14-alpha demethylase ISO ClinVar Annotator: match by term: Cardiomyopathies ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chrNW_004955432:9,092,923...9,112,615
Ensembl chrNW_004955432:9,092,933...9,112,615
JBrowse link
G LOC106146232 protein SCO2 homolog, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 NCBI chrNW_004955413:33,503,882...33,505,417 JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10533957 NCBI chrNW_004955403:43,646,084...43,672,116
Ensembl chrNW_004955403:43,646,084...43,673,967
JBrowse link
G Lrp1 LDL receptor related protein 1 ISO MouseDO NCBI chrNW_004955458:4,861,431...4,941,939
Ensembl chrNW_004955458:4,861,431...4,941,146
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18342293 NCBI chrNW_004955439:162,499...376,919
Ensembl chrNW_004955439:163,103...377,808
JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:10620750 NCBI chrNW_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020
JBrowse link
G Mapk11 mitogen-activated protein kinase 11 ISO CTD Direct Evidence: therapeutic CTD PMID:10620750 NCBI chrNW_004955413:33,287,860...33,293,948
Ensembl chrNW_004955413:33,286,390...33,294,227
JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10620750 NCBI chrNW_004955437:3,836,331...3,884,083
Ensembl chrNW_004955437:3,838,232...3,884,083
JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:10620750 NCBI chrNW_004955493:6,870,699...6,876,836
Ensembl chrNW_004955493:6,869,668...6,879,152
JBrowse link
G Mapt microtubule associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:29068127 NCBI chrNW_004955478:10,222,439...10,271,439
Ensembl chrNW_004955478:10,225,823...10,271,442
JBrowse link
G Mettl14 methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:34648132 NCBI chrNW_004955428:21,475,981...21,507,730
Ensembl chrNW_004955428:21,475,981...21,507,730
JBrowse link
G Mif macrophage migration inhibitory factor ISO associated with Endotoxemia RGD PMID:15879312 RGD:1641991 NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460
JBrowse link
G Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:27799064 PMID:28492532 PMID:34620555 NCBI chrNW_004955497:4,065,090...4,196,999
Ensembl chrNW_004955497:4,062,677...4,196,889
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:16681691 RGD:1581215 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:16681691 PMID:21810612 RGD:13204757 RGD:1581215 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy | ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:208208 More... NCBI chrNW_004955422:888,529...902,074
Ensembl chrNW_004955422:888,589...901,725
JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar PMID:203862 PMID:08673105 PMID:09535554 PMID:9536098 PMID:9673982 More... NCBI chrNW_004955482:7,708,436...7,713,877
Ensembl chrNW_004955482:7,705,912...7,713,870
JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar PMID:2938653 PMID:08673105 PMID:9536098 PMID:11174330 PMID:12021217 More... NCBI chrNW_004955420:25,308,513...25,311,959
Ensembl chrNW_004955420:25,305,759...25,312,271
JBrowse link
G Myl4 myosin light chain 4 ISO human gene in rat model RGD PMID:29080865 RGD:40902867 NCBI chrNW_004955478:9,878,074...9,927,793
Ensembl chrNW_004955478:9,877,710...9,928,053
JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:11733062 PMID:22995991 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chrNW_004955422:29,141,699...29,154,927
Ensembl chrNW_004955422:29,141,348...29,154,927
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955402:7,293,415...7,418,226
Ensembl chrNW_004955402:7,297,502...7,417,583
JBrowse link
G Myot myotilin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955408:32,816,133...32,835,230
Ensembl chrNW_004955408:32,790,095...32,838,258
JBrowse link
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:17434779 PMID:19472918 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chrNW_004955428:21,052,352...21,088,468
Ensembl chrNW_004955428:21,052,137...21,101,795
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18006477 PMID:20801532 PMID:22286171 PMID:23299917 PMID:23861362 More... NCBI chrNW_004955425:20,461,654...20,545,626
Ensembl chrNW_004955425:20,471,047...20,544,105
JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO mRNA, protein:alternative form, increased expression:heart RGD PMID:23462508 RGD:40924663 NCBI chrNW_004955412:14,630,109...14,923,847
Ensembl chrNW_004955412:14,630,443...14,923,926
JBrowse link
G Ncoa6 nuclear receptor coactivator 6 ISO RGD PMID:26029872 RGD:158014899 NCBI chrNW_004955422:26,564,535...26,639,516
Ensembl chrNW_004955422:26,564,037...26,632,675
JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chrNW_004955468:12,961,873...12,971,278
Ensembl chrNW_004955468:12,961,915...12,971,095
JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chrNW_004955402:2,802,366...2,818,049
Ensembl chrNW_004955402:2,800,447...2,818,375
JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chrNW_004955429:7,559,994...7,730,683
Ensembl chrNW_004955429:7,358,758...7,725,648
JBrowse link
G Nexn nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19881492 PMID:20970104 More... NCBI chrNW_004955423:15,278,526...15,299,654
Ensembl chrNW_004955423:15,278,526...15,299,659
JBrowse link
G Nono non-POU domain containing octamer binding ISO DNA:SNPs:nonsense mutations, splice-site mutation:CDS, intron:c.457C>T, c.550C>T, c.1171+1G>A (human) RGD PMID:31883306 RGD:155882460 NCBI chrNW_004955475:10,833,514...10,853,460
Ensembl chrNW_004955475:10,833,189...10,853,519
JBrowse link
G Nos1 nitric oxide synthase 1 ISO associated with Diabetes Mellitus, Experimental;protein:increased expression:cardiomyocyte RGD PMID:17721248 RGD:1642134 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Diabetes Mellitus, Experimental;protein:decreased expression:heart
associated with Beta-Thalassemia;DNA:repeats:intron:
RGD PMID:17589825 PMID:25699607 RGD:11533642 RGD:1642825 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:14745153 PMID:16127512 NCBI chrNW_004955486:2,054,775...2,056,130 JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chrNW_004955429:9,594,964...9,639,614
Ensembl chrNW_004955429:9,594,958...9,639,614
JBrowse link
G Opa1 OPA1 mitochondrial dynamin like GTPase onset ISO RGD PMID:23316298 RGD:7800701 NCBI chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081
JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:14672715 PMID:15099591 More... NCBI chrNW_004955561:340,387...354,499
Ensembl chrNW_004955561:337,902...354,336
JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chrNW_004955489:520,875...557,609
Ensembl chrNW_004955489:520,875...557,615
JBrowse link
G Pde2a phosphodiesterase 2A ISO associated with Liver Cirrhosis;mRNA:increased expression:cardiac myocyte: RGD PMID:19003918 RGD:10449440 NCBI chrNW_004955414:18,765,591...18,826,717
Ensembl chrNW_004955414:18,735,822...18,827,236
JBrowse link
G Pdk2 pyruvate dehydrogenase kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chrNW_004955451:11,547,660...11,559,266
Ensembl chrNW_004955451:11,547,660...11,559,403
JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955403:23,546,291...23,579,975
Ensembl chrNW_004955403:23,546,291...23,579,975
JBrowse link
G Phactr1 phosphatase and actin regulator 1 ISO protein:increased expression:heart (human) RGD PMID:26098115 RGD:11053274 NCBI chrNW_004955465:1,395,418...1,915,820
Ensembl chrNW_004955465:1,395,088...1,913,847
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy
ClinVar PMID:2163603 PMID:2412583 PMID:9536098 PMID:11790773 PMID:15489853 More... NCBI chrNW_004955505:2,878,001...2,959,299
Ensembl chrNW_004955505:2,878,081...2,958,404
JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12610310 PMID:12639993 PMID:16235537 PMID:16432188 PMID:17655857 More... NCBI chrNW_004955436:1,439,098...1,447,070
Ensembl chrNW_004955436:1,439,098...1,447,070
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO RGD PMID:17310215 RGD:8694182 NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6143199 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
JBrowse link
G Pomt1 protein O-mannosyltransferase 1 ISO associated with Muscular Dystrophies RGD PMID:22549409 RGD:11069993 NCBI chrNW_004955513:1,189,169...1,203,933
Ensembl chrNW_004955513:1,189,169...1,203,933
JBrowse link
G Ppard peroxisome proliferator activated receptor delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20075336 NCBI chrNW_004955437:3,285,281...3,354,099
Ensembl chrNW_004955437:3,288,830...3,357,048
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO MouseDO NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435
JBrowse link
G Ppp1r1a protein phosphatase 1 regulatory inhibitor subunit 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20071777 NCBI chrNW_004955458:1,819,366...1,823,864
Ensembl chrNW_004955458:1,819,366...1,823,867
JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chrNW_004955464:2,996,608...3,062,197
Ensembl chrNW_004955464:3,003,837...3,062,197
JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome
ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome
ClinVar PMID:762819 PMID:2526523 PMID:9536098 PMID:10355918 PMID:10820940 More... NCBI chrNW_004955491:5,852,534...6,048,820
Ensembl chrNW_004955491:5,852,082...6,019,318
JBrowse link
G Prkce protein kinase C epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:15242976 NCBI chrNW_004955441:12,642,703...13,142,396
Ensembl chrNW_004955441:12,642,697...13,139,372
JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29068127 NCBI chrNW_004955523:2,128,529...2,210,737
Ensembl chrNW_004955523:2,128,529...2,210,737
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11978490 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
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 More... NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
JBrowse link
G Rad51 RAD51 recombinase treatment ISO RGD PMID:22384017 RGD:7240549 NCBI chrNW_004955416:7,566,715...7,590,628
Ensembl chrNW_004955416:7,566,686...7,590,628
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18585512 PMID:19712804 PMID:20590677 PMID:21483645 PMID:22004663 More... NCBI chrNW_004955485:590,094...769,604
Ensembl chrNW_004955485:586,373...769,635
JBrowse link
G Rhoj ras homolog family member J ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chrNW_004955466:6,476,822...6,564,890
Ensembl chrNW_004955466:6,476,822...6,564,988
JBrowse link
G Rpl3l ribosomal protein L3 like ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:32514796 PMID:32870709 NCBI chrNW_004955442:15,311,336...15,322,578
Ensembl chrNW_004955442:15,313,729...15,322,578
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO RGD PMID:12937148 RGD:1304428 NCBI chrNW_004955407:34,108,653...34,342,657
Ensembl chrNW_004955407:34,104,035...34,342,928
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Cardiomyopathies ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy
ClinVar PMID:285698 PMID:1817325 PMID:9536098 PMID:11078270 PMID:11157710 More... NCBI chrNW_004955492:2,647,597...3,275,512
Ensembl chrNW_004955492:2,648,956...3,076,509
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chrNW_004955468:4,375,517...4,383,383
Ensembl chrNW_004955468:4,375,157...4,383,502
JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Cardiomyopathies ClinVar PMID:23257389 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27435932 More... NCBI chrNW_004955412:24,391,764...24,412,912
Ensembl chrNW_004955412:24,388,366...24,412,604
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:2107088 PMID:8661019 PMID:9536098 PMID:9716085 PMID:10508990 More... NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552
JBrowse link
G Sgca sarcoglycan alpha ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12746421 PMID:18285821 PMID:25741868 PMID:25802880 PMID:26467025 More... NCBI chrNW_004955451:11,490,891...11,501,618 JBrowse link
G Sgcb sarcoglycan beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21037199 NCBI chrNW_004955447:18,459,562...18,472,367
Ensembl chrNW_004955447:18,459,562...18,469,324
JBrowse link
G Sgcd sarcoglycan delta severity
treatment
ISO associated with limb-girdle muscular dystrophy
ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy
DNA:mutation:cds:p.Ser151Ala(mouse)
associated with Sgcd knockout
RGD
ClinVar
PMID:10481911 PMID:19218289 PMID:23695275 PMID:24033266 PMID:24503780 More... RGD:13605616 RGD:13605617 RGD:13605618 NCBI chrNW_004955408:10,273,344...10,820,108
Ensembl chrNW_004955408:10,273,223...10,819,072
JBrowse link
G Sod1 superoxide dismutase 1 ISO RGD PMID:15890620 RGD:1581220 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727
JBrowse link
G Sod2 superoxide dismutase 2 ISO associated with hemochromatosis;DNA:polymorphism: :p.A16V (human)
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:15591282 PMID:15890620 PMID:23536361 RGD:1580836 RGD:1581220 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
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 More... NCBI chrNW_004955441:6,649,895...6,724,271
Ensembl chrNW_004955441:6,646,385...6,713,028
JBrowse link
G Sox6 SRY-box transcription factor 6 ISO RGD PMID:26029872 RGD:158014899 NCBI chrNW_004955414:30,965,626...31,532,473
Ensembl chrNW_004955414:30,971,920...31,335,263
JBrowse link
G Srf serum response factor ISO RGD PMID:12874181 RGD:1581473 NCBI chrNW_004955437:9,100,546...9,109,305
Ensembl chrNW_004955437:9,098,968...9,107,057
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 chrNW_004955561:254,876...274,581
Ensembl chrNW_004955561:244,675...274,551
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic RGD
CTD
PMID:10618415 PMID:23619365 PMID:24448315 RGD:7495791 NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
JBrowse link
G Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 ISO DNA:deletions:multiple: (human)
DNA:nonsense mutation:exon:c.1039 C>T, p.R347X (human)
RGD PMID:28464518 PMID:29700987 RGD:155663377 RGD:155663379 NCBI chrNW_004955439:11,826,469...11,903,103
Ensembl chrNW_004955439:11,826,469...11,903,103
JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chrNW_004955414:22,322,954...22,324,412
Ensembl chrNW_004955414:22,323,031...22,324,367
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:972179 PMID:9536098 PMID:11238270 PMID:17576681 PMID:25741868 More... NCBI chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:16911908 PMID:18585512 PMID:19035361 PMID:19412328 PMID:20215591 More... NCBI chrNW_004955451:14,413,657...14,414,735
Ensembl chrNW_004955451:14,413,657...14,414,735
JBrowse link
G Tgfb3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Cardiomyopathies ClinVar PMID:25741868 PMID:28240702 PMID:28492532 NCBI chrNW_004955438:33,129...55,180
Ensembl chrNW_004955438:29,415...55,180
JBrowse link
G Thpo thrombopoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16651473 NCBI chrNW_004955420:23,120,828...23,128,894
Ensembl chrNW_004955420:23,123,637...23,129,198
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:heart myocardium, serum RGD PMID:17982970 RGD:2290406 NCBI chrNW_004955506:3,769,113...3,812,896
Ensembl chrNW_004955506:3,768,646...3,813,820
JBrowse link
G Tlr2 toll like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15505089 NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18313022 PMID:18414213 More... NCBI chrNW_004955429:16,921,469...16,934,978
Ensembl chrNW_004955429:16,921,469...16,934,978
JBrowse link
G Tmem70 transmembrane protein 70 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18953340 NCBI chrNW_004955444:6,393,023...6,397,115 JBrowse link
G Tmod1 tropomodulin 1 ISO ClinVar Annotator: match by term: Idiopathic cardiomyopathy ClinVar PMID:25741868 PMID:38168645 NCBI chrNW_004955419:27,841,424...27,915,540
Ensembl chrNW_004955419:27,841,424...27,915,540
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955405:34,526,420...34,556,740
Ensembl chrNW_004955405:34,535,306...34,554,835
JBrowse link
G Tnf tumor necrosis factor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:10716473 PMID:24441175 RGD:10450596 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Tnnc1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18572189 PMID:19439414 PMID:20215591 PMID:20459070 PMID:21056975 More... NCBI chrNW_004955430:2,438,644...2,441,596
Ensembl chrNW_004955430:2,434,874...2,441,596
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy
ClinVar PMID:3144325 PMID:3349559 PMID:7592712 PMID:9241277 PMID:9536098 More... NCBI chrNW_004955567:1,037,325...1,042,102
Ensembl chrNW_004955567:1,037,462...1,042,039
JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955567:1,039,625...1,050,581
Ensembl chrNW_004955567:1,043,026...1,055,039
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy
ClinVar PMID:181617 PMID:209243 PMID:209262 PMID:541918 PMID:936231 More... NCBI chrNW_004955406:37,491,462...37,507,360
Ensembl chrNW_004955406:37,487,154...37,507,639
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: therapeutic
CTD Direct Evidence: marker/mechanism
CTD PMID:16013437 PMID:31618665 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy ClinVar PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chrNW_004955450:12,197,241...12,223,372
Ensembl chrNW_004955450:12,194,755...12,224,011
JBrowse link
G Trim63 tripartite motif containing 63 ISO ClinVar Annotator: match by term: Idiopathic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004955452:5,517,969...5,531,490
Ensembl chrNW_004955452:5,520,269...5,531,975
JBrowse link
G Trpm4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:21887725 PMID:23382873 PMID:25467552 PMID:25741868 PMID:26820365 More... NCBI chrNW_004955559:1,539,036...1,581,800
Ensembl chrNW_004955559:1,546,365...1,581,712
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO RGD PMID:8796147 RGD:1580777 NCBI chrNW_004955438:4,601,765...4,758,922
Ensembl chrNW_004955438:4,614,584...4,761,582
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome ClinVar PMID:1745277 PMID:9536098 PMID:10053013 PMID:10462489 PMID:11310621 More... NCBI chrNW_004955403:18,057,344...18,328,389 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:192115 PMID:1351039 PMID:1353008 PMID:1355416 PMID:1356051 More... NCBI chrNW_004955402:18,921,235...18,927,976
Ensembl chrNW_004955402:18,921,274...18,928,108
JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955442:18,150,060...18,205,775
Ensembl chrNW_004955442:18,152,152...18,204,327
JBrowse link
G Txnrd3 thioredoxin reductase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36421005 NCBI chrNW_004955429:16,845,466...16,880,481
Ensembl chrNW_004955429:16,845,526...16,879,797
JBrowse link
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Cardiomyopathies ClinVar NCBI chrNW_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152
JBrowse link
G Uts2 urotensin 2 ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium RGD PMID:12791592 PMID:18280445 RGD:1580809 RGD:2306796 NCBI chrNW_004955486:5,052,045...5,056,610
Ensembl chrNW_004955486:5,052,045...5,056,610
JBrowse link
G Uts2r urotensin 2 receptor ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium RGD PMID:18280445 RGD:2306796 NCBI chrNW_004955506:756,859...761,891 JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955435:18,890,995...18,933,258
Ensembl chrNW_004955435:18,882,565...18,933,258
JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:15331426 PMID:15769782 PMID:16236538 PMID:16712796 More... NCBI chrNW_004955437:17,812,998...17,920,253
Ensembl chrNW_004955437:17,813,007...17,920,253
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:10229225 RGD:1580578 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Ywhah tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta ISO CTD Direct Evidence: therapeutic CTD PMID:18342293 NCBI chrNW_004955455:6,045,919...6,057,729
Ensembl chrNW_004955455:6,045,919...6,057,729
JBrowse link
G Zfpm2 zinc finger protein, FOG family member 2 ISO mRNA:increased expression:heart RGD PMID:18658259 RGD:155882484 NCBI chrNW_004955417:28,931,428...29,268,778
Ensembl chrNW_004955417:28,920,210...29,269,271
JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chrNW_004955420:9,689,076...9,727,806
Ensembl chrNW_004955420:9,690,295...9,727,835
JBrowse link
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: DNAJC19-related condition OMIM
ClinVar
PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 More... NCBI chrNW_004955420:9,974,466...9,978,789
Ensembl chrNW_004955420:9,953,045...9,978,789
JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chrNW_004955420:9,903,736...9,966,100
Ensembl chrNW_004955420:9,903,736...9,966,100
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 chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:9495297 RGD:13702889 NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
JBrowse link
G Pdcd1 programmed cell death 1 severity
treatment
ISO associated with Coxsackievirus Infections; RGD PMID:17434153 RGD:40822819 NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
JBrowse link
alcoholic cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:22497828 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
JBrowse link
G Atg3 autophagy related 3 treatment ISO RGD PMID:29039471 RGD:407532638 NCBI chrNW_004955427:12,881,454...12,906,399 JBrowse link
G Atg7 autophagy related 7 treatment ISO RGD PMID:29039471 RGD:407532638 NCBI chrNW_004955429:14,076,976...14,301,034
Ensembl chrNW_004955429:14,076,960...14,304,236
JBrowse link
G Becn1 beclin 1 treatment ISO RGD PMID:29039471 RGD:407532638 NCBI chrNW_004955451:16,616,595...16,625,731
Ensembl chrNW_004955451:16,616,595...16,625,730
JBrowse link
G Nos1 nitric oxide synthase 1 ISO protein:decreased expression:skeletal muscle, membrane RGD PMID:17607508 RGD:1642138 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO protein:increased expression:heart myocardium RGD PMID:18783396 RGD:2301868 NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387
JBrowse link
G Rxra retinoid X receptor alpha ISO RGD PMID:19791468 RGD:2317465 NCBI chrNW_004955513:3,313,544...3,386,544
Ensembl chrNW_004955513:3,335,897...3,386,994
JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO mRNA, protein:decreased expression:myocardium RGD PMID:21169901 RGD:9681464 NCBI chrNW_004955403:23,878,329...23,882,322
Ensembl chrNW_004955403:23,878,329...23,882,322
JBrowse link
Andersen-Tawil syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly rectifying channel subfamily J member 2 ISO ClinVar Annotator: match by term: Andersen Syndrome | ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
ClinVar Annotator: match by term: Andersen Syndrome | ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Periodic paralysis, potassium-sensitive cardiodysrhythmic type | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
OMIM
ClinVar
PMID:8078584 PMID:10206975 PMID:10318782 PMID:11371347 PMID:11841151 More... NCBI chrNW_004955478:2,734,795...2,745,217
Ensembl chrNW_004955478:2,734,795...2,745,217
JBrowse link
G Kcnj5 potassium inwardly rectifying channel subfamily J member 5 ISO ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features ClinVar PMID:20560207 PMID:21311022 PMID:22203740 PMID:24574546 PMID:25417227 More... NCBI chrNW_004955412:29,850,097...29,874,213
Ensembl chrNW_004955412:29,850,097...29,874,213
JBrowse link
ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1r13l protein phosphatase 1 regulatory subunit 13 like ISO ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities OMIM
ClinVar
PMID:25741868 PMID:28069640 PMID:32666529 PMID:35924320 PMID:35933355 NCBI chrNW_004955555:2,373,088...2,390,973
Ensembl chrNW_004955555:2,372,259...2,389,626
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: Arrhythmogenic right ventricular dysplasia ClinVar PMID:20890277 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chrNW_004955413:17,385,966...17,510,220
Ensembl chrNW_004955413:17,382,564...17,510,132
JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:25224718 PMID:25741868 PMID:28492532 PMID:31956495 NCBI chrNW_004955492:3,483,704...3,554,831
Ensembl chrNW_004955492:3,483,511...3,555,190
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:26159999 PMID:28492532 NCBI chrNW_004955432:8,933,037...9,090,872
Ensembl chrNW_004955432:8,932,952...9,095,065
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:28492532 NCBI chrNW_004955457:13,624,590...13,938,427
Ensembl chrNW_004955457:13,624,413...14,076,261
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia ClinVar PMID:21898660 PMID:23861362 PMID:25741868 PMID:28492532 PMID:29382405 More... NCBI chrNW_004955551:446,322...468,329
Ensembl chrNW_004955551:446,605...469,207
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362 PMID:25447171 PMID:25661095 PMID:25741868 PMID:28492532 NCBI chrNW_004955454:4,573,647...5,199,046
Ensembl chrNW_004955454:4,490,923...5,198,506
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955429:9,642,725...9,966,175
Ensembl chrNW_004955429:9,644,053...9,966,175
JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:17655857 PMID:23861362 PMID:28492532 NCBI chrNW_004955524:1,245,607...1,256,528
Ensembl chrNW_004955524:1,245,708...1,256,478
JBrowse link
G Cdh2 cadherin 2 ISO DNA:missense mutations:cds:c.686A>C(p.Q229P), c.1219G>A (p.D407N)(human)
DNA:mutation:cds:c.1219G>A(p.D407N)(human)
RGD PMID:28280076 PMID:28326674 RGD:13524622 RGD:13524623 NCBI chrNW_004955402:15,829,895...16,049,874
Ensembl chrNW_004955402:15,831,110...16,049,890
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:10717012 PMID:10905661 PMID:14991347 PMID:15050448 PMID:21262226 More... NCBI chrNW_004955453:14,039,502...14,046,572
Ensembl chrNW_004955453:14,039,502...14,047,246
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542
JBrowse link
G Dsc2 desmocollin 2 susceptibility ISO DNA:SNP:exon 11: c.1660C>T, p.Gln554X (human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia
RGD
ClinVar
PMID:205460 PMID:1245073 PMID:7971964 PMID:9536098 PMID:16199547 More... RGD:243065272 NCBI chrNW_004955402:18,465,631...18,496,948
Ensembl chrNW_004955402:18,464,989...18,489,475
JBrowse link
G Dsg2 desmoglein 2 susceptibility
ameliorates
severity
ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Right ventricular cardiomyopathy
DNA:mutation:cds: p.Phe531Cys(human)
ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia
ClinVar
RGD
PMID:271711 PMID:2040044 PMID:2569966 PMID:9536098 PMID:12586364 More... RGD:401851071 RGD:401851076 RGD:401851081 NCBI chrNW_004955402:18,826,400...18,876,188 JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Right ventricular cardiomyopathy ClinVar PMID:491020 PMID:9536098 PMID:10395892 PMID:10594734 PMID:11063735 More... NCBI chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207
JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chrNW_004955470:10,240,117...10,286,117
Ensembl chrNW_004955470:10,240,117...10,286,289
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:25741868 PMID:27601210 PMID:27908349 PMID:28492532 PMID:31317183 More... NCBI chrNW_004955479:9,633,817...9,661,725
Ensembl chrNW_004955479:9,633,598...9,661,777
JBrowse link
G Gja1 gap junction protein alpha 1 ISO protein:decreased expression:buccal mucosa
protein:decreased expression:cardiac ventricle (mouse)
protein:altered expression:ventricle
RGD PMID:23178689 PMID:26850880 PMID:27412010 RGD:11352402 RGD:13592599 RGD:265253172 NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chrNW_004955450:4,139,852...4,181,377
Ensembl chrNW_004955450:4,139,852...4,181,377
JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004955438:58,503...144,675
Ensembl chrNW_004955438:58,272...144,730
JBrowse link
G Il6r interleukin 6 receptor ISO protein:increased expression:serum RGD PMID:21859801 RGD:10402826 NCBI chrNW_004955545:932,814...979,359
Ensembl chrNW_004955545:950,765...981,762
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:24033266 PMID:24884844 PMID:25741868 PMID:28098346 PMID:28492532 More... NCBI chrNW_004955451:15,993,055...16,004,152
Ensembl chrNW_004955451:15,989,180...16,004,155
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 More... NCBI chrNW_004955407:33,807,581...33,814,356
Ensembl chrNW_004955407:33,807,581...33,814,356
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:15176425 PMID:16244680 PMID:22402334 PMID:22581653 PMID:25741868 More... NCBI chrNW_004955491:5,391,444...5,422,241
Ensembl chrNW_004955491:5,391,384...5,422,241
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30847666 PMID:31333075 More... NCBI chrNW_004955526:4,330,388...4,465,810
Ensembl chrNW_004955526:4,330,388...4,465,528
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:20474083 PMID:23861362 PMID:24033266 PMID:25179549 PMID:25351510 More... NCBI chrNW_004955510:5,738,254...5,793,643
Ensembl chrNW_004955510:5,738,041...5,790,557
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia
ClinVar 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:17377071 PMID:22224630 PMID:22266370 PMID:22464770 PMID:23183350 More... NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
G LOC102026964 chromosome unknown open reading frame, human C2orf49 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar NCBI chrNW_004955470:10,223,467...10,234,309
Ensembl chrNW_004955470:10,223,467...10,234,309
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:15519027 PMID:19574547 PMID:20474083 PMID:23690394 PMID:24033266 More... NCBI chrNW_004955422:888,529...902,074
Ensembl chrNW_004955422:888,589...901,725
JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:28611029 PMID:35629155 NCBI chrNW_004955482:7,708,436...7,713,877
Ensembl chrNW_004955482:7,705,912...7,713,870
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955402:7,293,415...7,418,226
Ensembl chrNW_004955402:7,297,502...7,417,583
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:25741868 PMID:28492532 PMID:29016939 PMID:31983221 NCBI chrNW_004955425:20,461,654...20,545,626
Ensembl chrNW_004955425:20,471,047...20,544,105
JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO MouseDO NCBI chrNW_004955403:23,546,291...23,579,975
Ensembl chrNW_004955403:23,546,291...23,579,975
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia
ClinVar PMID:2163603 PMID:2412583 PMID:9536098 PMID:11790773 PMID:15489853 More... NCBI chrNW_004955505:2,878,001...2,959,299
Ensembl chrNW_004955505:2,878,081...2,958,404
JBrowse link
G Ppp1r13l protein phosphatase 1 regulatory subunit 13 like ISO MouseDO NCBI chrNW_004955555:2,373,088...2,390,973
Ensembl chrNW_004955555:2,372,259...2,389,626
JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
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 Annotator: match by term: Cardiomyopathy, ARVC ClinVar PMID:23396983 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26498160 More... NCBI chrNW_004955485:590,094...769,604
Ensembl chrNW_004955485:586,373...769,635
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:11159936 PMID:12093772 PMID:12459180 PMID:16769042 PMID:18326664 More... RGD:1599243 NCBI chrNW_004955492:2,647,597...3,275,512
Ensembl chrNW_004955492:2,648,956...3,076,509
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 | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia ClinVar PMID:10973849 PMID:11222472 PMID:12354768 PMID:12820704 PMID:14523039 More... NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552
JBrowse link
G Sgca sarcoglycan alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955451:11,490,891...11,501,618 JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:17143282 PMID:17143285 PMID:17586837 PMID:19953625 PMID:20981092 More... NCBI chrNW_004955441:6,649,895...6,724,271
Ensembl chrNW_004955441:6,646,385...6,713,028
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 chrNW_004955467:13,146,527...13,151,109
Ensembl chrNW_004955467:13,146,527...13,151,109
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 PMID:28798025 More... NCBI chrNW_004955438:33,129...55,180
Ensembl chrNW_004955438:29,415...55,180
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia ClinVar PMID:18313022 PMID:18414213 PMID:19467449 PMID:20010364 PMID:21214875 More... NCBI chrNW_004955429:16,921,469...16,934,978
Ensembl chrNW_004955429:16,921,469...16,934,978
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:24448499 PMID:25741868 More... NCBI chrNW_004955405:34,526,420...34,556,740
Ensembl chrNW_004955405:34,535,306...34,554,835