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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:dilated cardiomyopathy
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Accession:DOID:12930 term browser browse the term
Definition:An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently. (DO)
Synonyms:exact_synonym: congestive cardiomyopathies;   congestive cardiomyopathy;   dilated cardiomyopathies;   idiopathic dilated cardiomyopathies
 narrow_synonym: ANKRD1-related dilated cardiomyopathy;   FDC;   IDCM;   LVNC4;   dilated cardiomyopathy, and heart failure;   dilated cardiomyopathy, autosomal recessive;   dilated cardiomyopathy, dominant;   dilated cardiomyopathy, recessive;   familial dilated cardiomyopathy;   familial idiopathic cardiomyopathies;   familial idiopathic cardiomyopathy;   fatal cardiomyopathy;   fatal cardiomyopathy, infantile;   idiopathic dilated cardiomyopathy;   idiopathic dilation cardiomyopathy;   left ventricular noncompaction 4
 related_synonym: primary dilated cardiomyopathy
 primary_id: MESH:D002311
 xref: GARD:221;   NCI:C84673;   OMIM:PS115200;   ORDO:217604
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
dilated 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 susceptibility ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar
RGD
PMID:12166651 PMID:20474083 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:1300328 NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
JBrowse link
G Abcc9_v1 ATP binding cassette subfamily C member 9, variant 1 susceptibility ISO RGD PMID:15034580 RGD:1300328
G Abra actin-binding Rho activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chr 7:72,970,187...72,974,255
Ensembl chr 7:72,970,186...72,974,255
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:21932095 PMID:25087612 PMID:25741868 PMID:26385305 PMID:27209629 More... NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
JBrowse link
G Ace angiotensin I converting enzyme no_association ISO DNA:insertion/deletion:intron RGD PMID:9270088 RGD:1566491 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 susceptibility ISO DNA:point mutations: :p.Arg312His, p.Glu361Gly (human)
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy 1R
ClinVar
CTD
RGD
PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 More... RGD:1559158 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 term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:14567970 PMID:17097056 PMID:20022194 PMID:23299917 PMID:23861362 More... NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
JBrowse link
G Adrb1 adrenoceptor beta 1 IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9554809 PMID:18287209 RGD:5129132 NCBI chr 1:255,772,217...255,773,617
Ensembl chr 1:255,771,597...255,807,259
JBrowse link
G Adrb2 adrenoceptor beta 2 IDA
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11986409 PMID:18287209 RGD:5129132 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
G Agt angiotensinogen no_association
treatment
ISO
IEP
DNA:polymorphisms: :p.T174M, p.M235T (human) RGD PMID:9270088 PMID:22120037 RGD:1566491, RGD:8549486 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a treatment IMP
IEP
RGD PMID:20886512 PMID:22120037 RGD:5129198, RGD:8549486 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO
IEP
mRNA, protein:increased expression:heart left ventricle RGD PMID:9815151 PMID:22120037 RGD:6903900, RGD:8549486 NCBI chr  X:112,119,673...112,124,060
Ensembl chr  X:112,120,228...112,124,057
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 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 Alms1 ALMS1, centrosome and basal body associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447358 NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar PMID:23861362 PMID:25741868 PMID:28492532 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 DNA:missense mutations:multiple (human)
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:18273862 PMID:19525294 PMID:19608030 More... RGD:5133277 NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy ClinVar PMID:25326635 PMID:25741868 NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
JBrowse link
G Ankrd37 ankyrin repeat domain 37 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,269,025...46,271,971
Ensembl chr16:46,268,443...46,271,963
JBrowse link
G Ap3m1 adaptor related protein complex 3 subunit mu 1 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar NCBI chr15:3,246,616...3,264,846
Ensembl chr15:3,246,926...3,264,844
JBrowse link
G Apoe apolipoprotein E susceptibility ISO RGD PMID:16714771 RGD:1601240 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24358288 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Axin2 axin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic
ClinVar PMID:2159883 PMID:21353195 PMID:21459883 PMID:21898660 PMID:22337857 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:23980359 PMID:26004897 RGD:10054117, RGD:13782348 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP RGD PMID:26004897 RGD:13782348 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Bcl2l1 Bcl2-like 1 IEP RGD PMID:26004897 RGD:13782348 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar PMID:23677916 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 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: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 susceptibility ISO DNA:SNPs:introns: RGD PMID:29495422 RGD:13515053 NCBI chr 3:36,906,771...37,169,191
Ensembl chr 3:36,910,427...37,168,944
JBrowse link
G Cacng8 calcium voltage-gated channel auxiliary subunit gamma 8 ISO mRNA,protein:decreased expression:left ventricule: RGD PMID:26710323 RGD:11353143 NCBI chr 1:65,755,334...65,775,567
Ensembl chr 1:65,755,334...65,779,089
JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar PMID:25741868 PMID:28492532 NCBI chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015
JBrowse link
G Cap2 cyclase associated actin cytoskeleton regulatory protein 2 ISS MouseDO NCBI chr17:18,054,234...18,203,453
Ensembl chr17:18,054,431...18,203,373
JBrowse link
G Casp3 caspase 3 IEP RGD PMID:26004897 RGD:13782348 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp8 caspase 8 IEP RGD PMID:26004897 RGD:13782348 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Casp9 caspase 9 IEP RGD PMID:26004897 RGD:13782348 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:20530761 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
JBrowse link
G Casz1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 5:159,243,965...159,393,935
Ensembl chr 5:159,243,995...159,393,400
JBrowse link
G Cat catalase ISO RGD PMID:10652196 RGD:1581150 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Ccdc110 coiled-coil domain containing 110 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,315,745...46,337,050
Ensembl chr16:46,315,745...46,337,021
JBrowse link
G Cd27 CD27 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
JBrowse link
G Cd36 CD36 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:10981864 NCBI chr 4:17,317,343...17,410,084 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 Cd70 Cd70 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 9:2,006,563...2,009,715
Ensembl chr 9:2,006,563...2,009,715
JBrowse link
G Cenpf centromere protein F ISS MouseDO NCBI chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669
JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:12610310 PMID:12639993 PMID:16235537 PMID:17655857 PMID:18056057 More... NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
JBrowse link
G Cfap97 cilia and flagella associated protein 97 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,086,104...46,135,194
Ensembl chr16:46,086,111...46,125,933
JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:23408450 PMID:24033266 PMID:28166811 PMID:28492532 NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
JBrowse link
G Cox7a1 cytochrome c oxidase subunit 7A1 ISS MouseDO NCBI chr 1:85,422,162...85,447,530
Ensembl chr 1:85,441,871...85,445,151
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO RGD PMID:9616213 RGD:734815 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:19597569 PMID:26402864 PMID:28492532 NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17334414 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Csrnp1 cysteine and serine rich nuclear protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chr 8:119,704,712...119,717,767
Ensembl chr 8:119,704,713...119,718,183
JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO DNA:missense mutation:cds:p.W4R (human)
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar
RGD
PMID:9039266 PMID:12507422 PMID:14567970 PMID:15781201 PMID:16352453 More... RGD:734841, RGD:734837 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: Dilated Cardiomyopathy, Dominant ClinVar
RGD
PMID:11058912 PMID:24033266 PMID:25741868 PMID:27149842 PMID:28492532 More... RGD:1626410 NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
JBrowse link
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:28492532 NCBI chr20:23,614,469...25,200,026 JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:29394407 PMID:20376467 RGD:13524857 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Ctsl cathepsin L ISS MouseDO NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP mRNA:increased expression:left ventricle myocardium RGD PMID:20868517 RGD:5134996 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 IDA RGD PMID:15322218 RGD:1598502 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
JBrowse link
G Dag1 dystroglycan 1 ISS MouseDO NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
DNA:mutation:cds:c.679C>T(p.R227C)(human)
protein:altered expression:cardiomyocyte:
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar
RGD
PMID:9536098 PMID:10717012 PMID:11073539 PMID:12620971 PMID:14724127 More... RGD:13592594, RGD:13542087, RGD:13525010 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dicer1 dicer 1 ribonuclease III ISS MouseDO NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
JBrowse link
G Dmd dystrophin severity ISO
IMP
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy
mRNA, protein:decreased expression:myocardium
ClinVar
CTD
RGD
PMID:11496434 PMID:12359139 PMID:19409785 PMID:19937601 PMID:21396098 More... RGD:1580858, RGD:13702900, RGD:12880034, RGD:6771365 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang IMP RGD PMID:25310701 RGD:12880034
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar 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: Primary dilated cardiomyopathy ClinVar NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518
JBrowse link
G Dnm1l dynamin 1-like ISS MouseDO NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
JBrowse link
G Dolk dolichol kinase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 3:13,557,826...13,559,864
Ensembl chr 3:13,557,817...13,559,917
JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated ClinVar NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 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: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
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: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Congestive cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar
RGD
PMID:9536098 PMID:10594734 PMID:11063735 PMID:16061754 PMID:16467215 More... RGD:1580891 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, Dilated
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:14,687,193...14,944,232
Ensembl chr18:14,587,852...14,944,261
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO RGD PMID:11145756 RGD:1580911 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
JBrowse link
G Edn1 endothelin 1 severity ISO protein:increased expression:aorta, plasma (human) RGD PMID:10026353 RGD:8661756 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Egfr epidermal growth factor receptor IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18599591 PMID:22646904 RGD:7204501 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Egln1 egl-9 family hypoxia-inducible factor 1 ISO RGD PMID:18096761 RGD:11251770 NCBI chr19:52,867,914...52,907,169 JBrowse link
G Elac2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr10:49,632,308...49,655,614
Ensembl chr10:49,632,378...49,655,614
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated
DNA:deletion:cds:c.26_39delATACCGAGCTGACC(human)
ClinVar
RGD
PMID:24997722 RGD:13592595 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO
ISS
MouseDO
RGD
PMID:12072561 RGD:734939 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
JBrowse link
G Esrrb estrogen-related receptor beta ISS MouseDO NCBI chr 6:106,007,662...106,163,136
Ensembl chr 6:106,008,095...106,160,791
JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO DNA:deletion:introns, exon (human)
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Cardiomyopathy, congestive
ClinVar
RGD
PMID:10769282 PMID:15735644 PMID:17567890 PMID:24033266 PMID:15735644 RGD:1598455 NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976
JBrowse link
G Fas Fas cell surface death receptor IEP
ISO
protein:increased expression:cardiocyte
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17943461 PMID:16761189 RGD:1600334 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:17943461 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261
JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:17416352 PMID:24033266 PMID:25358972 PMID:25741868 PMID:26627873 More... NCBI chr 9:45,388,979...45,462,530
Ensembl chr 9:45,388,981...45,431,192
JBrowse link
G Fkrp fukutin related protein ISO DNA:missense mutation:exon:p.L276I (826C>A) (human)
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar
RGD
PMID:16344347 PMID:17994539 PMID:18832576 PMID:25741868 PMID:28492532 More... RGD:11667064 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: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:17597323 PMID:25741868 PMID:26633542 PMID:28492532 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: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:15929027 PMID:16199547 PMID:25741868 PMID:26666891 PMID:27908349 More... 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: Dilated Cardiomyopathy, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836
JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:18076106 PMID:20874241 PMID:24033266 PMID:25741868 PMID:27374936 More... NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Familial dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO RGD PMID:12619876 RGD:1582667 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Gnaq G protein subunit alpha q ISO
ISS
MouseDO
RGD
PMID:9811897 RGD:1598475 NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated ClinVar NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723
JBrowse link
G Gpx1 glutathione peroxidase 1 susceptibility ISO DNA:polymorphism: :p.P198L (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18940188 PMID:18940188 RGD:2306616 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:28701297 NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar PMID:25741868 PMID:28341588 PMID:28492532 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 susceptibility ISO RGD PMID:11040018 RGD:1582687 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hp haptoglobin ISO protein:increased expression RGD PMID:16360363 RGD:1626345 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:11934830 RGD:1598419 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Il10 interleukin 10 IEP mRNA:decreased expression:heart left ventricle RGD PMID:19242323 RGD:2311057 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO protein:increased expression:myocardium RGD PMID:18362439 RGD:2298568 NCBI chr  X:111,002,590...111,074,053
Ensembl chr  X:111,002,592...111,072,381
JBrowse link
G Ilk integrin-linked kinase ISO
ISS
ClinVar Annotator: match by term: Cardiomyopathy, Dilated ClinVar
MouseDO
NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140
JBrowse link
G Irf4 interferon regulatory factor 4 ISO protein:decreased expression:heart RGD PMID:23589561 RGD:11530060 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
JBrowse link
G Itgb1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11884376 NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195
JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO RGD PMID:12496958 RGD:1582491 NCBI chr  X:66,572,537...66,577,174
Ensembl chr  X:66,572,537...66,577,174
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 no_association ISO RGD PMID:8567977 RGD:1556475 NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, congestive
ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:30384889 PMID:15541368 RGD:1580652 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 ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar PMID:20031617 PMID:20857253 PMID:21859740 PMID:23861362 PMID:24033266 More... NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:30461122 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:15176425 PMID:16244680 PMID:22402334 PMID:22581653 PMID:25741868 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO RGD PMID:15864294 RGD:1581757 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28416588 PMID:28492532 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, Dilated
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522
JBrowse link
G Lck LCK proto-oncogene, Src family tyrosine kinase ISO RGD PMID:17711737 RGD:2316557 NCBI chr 5:141,888,319...141,916,992
Ensembl chr 5:141,888,326...141,903,794
JBrowse link
G Ldb3 LIM domain binding 3 no_association ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
DNA:missense mutation: :p.D626N (human)
DNA:missense mutation: :p.D117N (human)
DNA:missense mutation:exon:p.S196L (human)
ClinVar
RGD
PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:19377068 More... RGD:1580827, RGD:11527732, RGD:11098950 NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO RGD PMID:16738313 RGD:11252001 NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794
JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphism: :p.Q223R (human) RGD PMID:19337797 RGD:2311129 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Lmna lamin A/C severity ISO associated with Muscular Dystrophy, Emery-Dreifuss;DNA:missense mutation:cds:p.H222P (mouse)
ClinVar Annotator: match by term: Congestive cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutations:cds:multiple (human)
ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE
ClinVar Annotator: match by OMIM:115200
ClinVar Annotator: match by term: Cardiomyopathy, Dilated
DNA:missense mutations, deletion:cds:multiple (human)
DNA:mutation
ClinVar
CTD
RGD
PMID:2280636 PMID:2526018 PMID:8621584 PMID:10080180 PMID:10580070 More... RGD:2306094, RGD:11073137, RGD:1580515, RGD:2306092, RGD:2306091 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Lmod2 leiomodin 2 ISS MouseDO NCBI chr 4:53,067,428...53,075,124
Ensembl chr 4:53,067,428...53,075,120
JBrowse link
G LOC100910779 ATP-dependent zinc metalloprotease YME1L1-like ISS MouseDO
G LOC102548901 protein Bop-like ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G Lrp2bp Lrp2 binding protein ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,241,554...46,269,221
Ensembl chr16:46,243,430...46,269,642
JBrowse link
G Lrrc10 leucine-rich repeat-containing 10 ISO
ISS
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar
MouseDO
PMID:28166811 PMID:28492532 NCBI chr 7:52,686,972...52,688,369
Ensembl chr 7:52,686,972...52,688,369
JBrowse link
G Map2k5 mitogen activated protein kinase kinase 5 ISO RGD PMID:11387209 RGD:1580866 NCBI chr 8:63,625,220...63,852,090
Ensembl chr 8:63,625,221...63,851,983
JBrowse link
G Mas1 MAS1 proto-oncogene, G protein-coupled receptor treatment IEP RGD PMID:22120037 RGD:8549486 NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
JBrowse link
G Mdm4 MDM4 regulator of p53 ISS MouseDO NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226
JBrowse link
G Med1 mediator complex subunit 1 ISO
ISS
MouseDO
RGD
PMID:27548259 RGD:13513972 NCBI chr10:83,145,538...83,189,260
Ensembl chr10:83,145,568...83,189,299
JBrowse link
G Mef2a myocyte enhancer factor 2a ISO RGD PMID:16469744 RGD:1580546 NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948
JBrowse link
G Mef2c myocyte enhancer factor 2C ISO RGD PMID:16469744 RGD:1580546 NCBI chr 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880
JBrowse link
G Mfn1 mitofusin 1 ISO with Mfn2 knockout RGD PMID:22052916 RGD:11251967 NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
JBrowse link
G Mfn2 mitofusin 2 ISO with Mfn1 knockout RGD PMID:22052916 RGD:11251967 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mmp1 matrix metallopeptidase 1 severity ISO mRNA:increased expression:myocardium (human) RGD PMID:17178334 PMID:12167381 RGD:4890382, RGD:1582541 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO RGD PMID:16037568 RGD:1582576 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO RGD PMID:16037568 RGD:1582576 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:16037568 RGD:1582576 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mrgprd MAS related GPR family member D ISS MouseDO NCBI chr 1:200,485,189...200,486,148
Ensembl chr 1:200,485,189...200,486,148
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 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: Dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
G Mtpn myotrophin ISO RGD PMID:8508536 RGD:1581048 NCBI chr 4:64,159,273...64,186,686
Ensembl chr 4:64,157,641...64,186,724
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Congestive cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar PMID:9048664 PMID:9562578 PMID:11499718 PMID:11499719 PMID:11815426 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
CTD
ClinVar
PMID:15998695 PMID:20215591 PMID:20656787 PMID:21483645 PMID:22011241 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 onset ISO DNA:missense mutations:exon:p.S532P, p.F764L (human)
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary dilated cardiomyopathy, UMLS MESH term: Dilated Cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar
CTD
RGD
PMID:1552912 PMID:1739523 PMID:1975599 PMID:2136805 PMID:2753225 More... RGD:1556469 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: Dilated cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:18533079 PMID:20173211 PMID:21310275 PMID:22958901 PMID:23299917 More... NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983
JBrowse link
G Myocd myocardin ISS MouseDO NCBI chr10:49,833,219...49,928,806
Ensembl chr10:49,836,641...49,927,627
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24033266 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: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar PMID:18006477 PMID:20801532 PMID:22286171 PMID:23299917 PMID:23861362 More... NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
JBrowse link
G Myzap myocardial zonula adherens protein ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 8:72,155,817...72,243,036 JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated ClinVar PMID:20159436 NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
JBrowse link
G Ncoa6 nuclear receptor coactivator 6 ISS MouseDO NCBI chr 3:143,890,896...143,961,916
Ensembl chr 3:143,890,896...143,952,268
JBrowse link
G Nebl nebulette susceptibility ISO DNA:missense mutation:cds:p.N654K (human)
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar
RGD
PMID:9536098 PMID:11140941 PMID:17576681 PMID:20951326 PMID:23632046 More... RGD:1581084 NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210
JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:28701297 NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
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 Nfatc4 nuclear factor of activated T-cells 4 ISO DNA:missense mutation:cds:p.G160A (human) RGD PMID:12939651 RGD:1580248 NCBI chr15:29,286,998...29,314,610
Ensembl chr15:29,305,535...29,314,610
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
CTD
ClinVar
PMID:10587520 PMID:25741868 PMID:28492532 PMID:28973413 NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11986409 PMID:16762803 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
JBrowse link
G Nppb natriuretic peptide B ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
RGD
PMID:16762803 PMID:18628775 PMID:18068619 RGD:2324684 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISS MouseDO NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21321305 NCBI chr19:30,715,648...31,059,885
Ensembl chr19:30,715,648...31,059,885
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006
JBrowse link
G Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO RGD PMID:15345656 RGD:1580779 NCBI chr10:43,774,113...43,919,718
Ensembl chr10:43,789,293...43,919,723
JBrowse link
G Pdcd1 programmed cell death 1 ISO
ISS
MouseDO
RGD
PMID:14595408 RGD:9589058 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:17254821 PMID:20801532 PMID:24033266 PMID:25741868 PMID:28166811 More... NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657
JBrowse link
G Pdlim5 PDZ and LIM domain 5 ISS MouseDO NCBI chr 2:230,952,251...231,120,329
Ensembl chr 2:230,952,248...231,120,275
JBrowse link
G Pgf placental growth factor ISO RGD PMID:21900081 RGD:6483574 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
JBrowse link
G Phc1 polyhomeotic homolog 1 ISS MouseDO NCBI chr 4:155,510,274...155,532,636
Ensembl chr 4:155,510,274...155,533,959
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar PMID:2163603 PMID:20400443 PMID:21378009 PMID:21636032 PMID:23396983 More... NCBI chr11:84,661,783...84,727,730 JBrowse link
G Plekhm2 pleckstrin homology and RUN domain containing M2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 5:153,939,582...153,978,625
Ensembl chr 5:153,940,262...153,978,689
JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:12610310 PMID:12639993 PMID:16235537 PMID:17655857 PMID:18056057 More... NCBI chr20:32,629,537...32,639,559 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment IDA RGD PMID:19242323 RGD:2311057 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Ppp1ca protein phosphatase 1 catalytic subunit alpha ISO RGD PMID:12024026 RGD:737728 NCBI chr 1:201,485,117...201,488,734
Ensembl chr 1:201,485,085...201,497,327
JBrowse link
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28069640 NCBI chr 1:79,010,997...79,030,714
Ensembl chr 1:79,011,745...79,030,712
JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISS MouseDO NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
JBrowse link
G Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha ISO
ISS
MouseDO
RGD
PMID:15012912 RGD:1580709 NCBI chr14:91,556,743...91,606,230
Ensembl chr14:91,604,121...91,606,907
JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23768516 PMID:25741868 PMID:28492532 NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:10,010,574...10,252,152
Ensembl chr 4:10,010,890...10,252,142
JBrowse link
G Prkca protein kinase C, alpha ISO RGD PMID:9918525 RGD:1581274 NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
JBrowse link
G Prkcb protein kinase C, beta ISO RGD PMID:9918525 RGD:1581274 NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
JBrowse link
G Prox1 prospero homeobox 1 ISS MouseDO NCBI chr13:101,669,184...101,719,804
Ensembl chr13:101,669,184...101,711,183
JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
CTD
ClinVar
PMID:11389157 PMID:17186461 PMID:25741868 PMID:28492532 NCBI chr 6:103,323,014...103,375,088
Ensembl chr 6:103,323,120...103,371,650
JBrowse link
G Psen2 presenilin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
CTD
ClinVar
PMID:17186461 PMID:20458010 PMID:21483645 PMID:22412221 PMID:24754482 NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISS MouseDO NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO
ISS
ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar
MouseDO
RGD
PMID:18759865 PMID:21934682 PMID:22923420 PMID:24033266 PMID:24803665 More... RGD:12743610 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Rab1a RAB1A, member RAS oncogene family ISS MouseDO NCBI chr14:94,422,219...94,448,799
Ensembl chr14:94,415,275...94,448,248
JBrowse link
G Rac1 Rac family small GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16155095 NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:24777450 PMID:25741868 NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
JBrowse link
G Ranbp1 RAN binding protein 1 ISO protein:decreased expression:heart ventricle, cytoplasm (human) RGD PMID:25341891 RGD:9835001 NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar PMID: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 Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO RGD PMID:10600520 RGD:1581297 NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
JBrowse link
G Renbp renin binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12612874 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516
JBrowse link
G RGD1564308 similar to LOC495042 protein ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased activity:heart RGD PMID:16043946 RGD:1643022 NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:9220309 RGD:13702906 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Rxra retinoid X receptor alpha ISS MouseDO NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:9536098 PMID:17576681 PMID:19926015 PMID:23861362 PMID:24033266 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:serum RGD PMID:18068619 RGD:2324684 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Congestive cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar PMID:9521325 PMID:10966831 PMID:11804990 PMID:15671429 PMID:16267253 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
G Sgcb sarcoglycan, beta ISO ClinVar Annotator: match by term: Congestive cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:12566530 PMID:15938573 PMID:18996010 PMID:25135358 PMID:25741868 More... NCBI chr14:34,563,614...34,578,614
Ensembl chr14:34,563,608...34,578,583
JBrowse link
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Congestive cardiomyopathy
ClinVar PMID:23861362 PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840
JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
JBrowse link
G Shbg sex hormone binding globulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25996886 NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057
JBrowse link
G Sik1 salt-inducible kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991
JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641380 NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
JBrowse link
G Slc8a1 solute carrier family 8 member A1 ISO RGD PMID:23436819 RGD:10053661 NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628
JBrowse link
G Snai1 snail family transcriptional repressor 1 ISS MouseDO NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709
JBrowse link
G Snx25 sorting nexin 25 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,134,552...46,238,471
Ensembl chr16:46,125,804...46,238,440
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16155095 PMID:21195081 PMID:11677043 PMID:10425186 RGD:1581260, RGD:1580837 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
JBrowse link
G Sp4 Sp4 transcription factor ISO RGD PMID:15972724 RGD:1581308 NCBI chr 6:139,187,458...139,252,741
Ensembl chr 6:139,192,147...139,252,126
JBrowse link
G Srf serum response factor ISO
ISS
MouseDO
RGD
PMID:16260633 RGD:1580754 NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
JBrowse link
G Stk38 serine/threonine kinase 38 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr20:7,034,245...7,067,803
Ensembl chr20:7,034,242...7,068,198
JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated ClinVar NCBI chr 6:94,537,088...94,848,085 JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Primary dilated 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: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar
RGD
PMID:4685904 PMID:9382096 PMID:11896212 PMID:12468278 PMID:19438153 More... RGD:1578363 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
JBrowse link
G Tbx20 T-box transcription factor 20 ISS
ISO
ClinVar Annotator: match by term: Primary dilated cardiomyopathy MouseDO
ClinVar
PMID:25741868 PMID:31333075 PMID:31568572 NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175
JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:17534187 PMID:25741868 PMID:28492532 NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:10655062 PMID:23479141 PMID:25298746 PMID:25741868 PMID:28492532 NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887
JBrowse link
G Tcf7l2 transcription factor 7 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 1:254,785,956...254,978,967
Ensembl chr 1:254,786,091...254,978,967
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO protein:increased expression:myocardium RGD PMID:14752511 RGD:1578494 NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar 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 Timp3 TIMP metallopeptidase inhibitor 3 ISS MouseDO NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:18313022 PMID:19467449 PMID:20010364 PMID:21214875 PMID:22458570 More... NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
JBrowse link
G Tmod1 tropomodulin 1 ISS MouseDO NCBI chr 5:60,316,445...60,393,957
Ensembl chr 5:60,338,512...60,393,956
JBrowse link
G Tmpo thymopoietin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated cardiomyopathy
CTD
ClinVar
PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:25741868 More... 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 ISO
ISS
protein:increased expression:plasma: MouseDO
RGD
PMID:14984724 RGD:7401238 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
JBrowse link
G Tnfrsf9 TNF receptor superfamily member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 5:161,381,662...161,408,003
Ensembl chr 5:161,381,662...161,408,000
JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 5:77,253,881...77,277,078
Ensembl chr 5:77,251,373...77,277,421
JBrowse link
G Tnfsf9 TNF superfamily member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 9:1,944,017...1,946,351
Ensembl chr 9:1,944,017...1,946,345
JBrowse link
G Tnnc1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:20215591 PMID:21832052 PMID:23861362 PMID:24033266 PMID:24503780 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: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, congestive
ClinVar
CTD
RGD
PMID:3144325 PMID:9241277 PMID:10806205 PMID:11735257 PMID:11815426 More... RGD:1580422 NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
JBrowse link
G Tnni3k TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268
JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive ClinVar PMID:18414213 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 term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Cardiomyopathy, congestive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:7898523 PMID:11684629 PMID:12818575 PMID:12881443 PMID:12923187 More... RGD:1580442 NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
JBrowse link
G Tp53 tumor protein p53 IEP RGD PMID:26004897 RGD:13782348 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, congestive
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:11106625 PMID:18533079 PMID:20117437 PMID:20159828 PMID:20215591 More... NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
JBrowse link
G Trdn triadin ISO protein:decreased expression:heart RGD PMID:17400717 RGD:7327229 NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25037205 PMID:28492532 NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
JBrowse link
G Ttn titin ISO mRNA, protein:altered expression:heart
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Congestive cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic
ClinVar Annotator: match by term: Cardiomyopathy, congestive
CTD Direct Evidence: marker/mechanism
DNA:variants:cds:
ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar
CTD
RGD
PMID:9536098 PMID:10051295 PMID:11788824 PMID:11846417 PMID:12145747 More... RGD:1580779, RGD:11565821 NCBI chr 3:61,652,432...61,924,912 JBrowse link
G Tubb5 tubulin, beta 5 class I ISO CTD Direct Evidence: marker/mechanism CTD PMID:16155095 NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940
JBrowse link
G Txn1 thioredoxin 1 ISO RGD PMID:12870673 RGD:1580782 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, Dilated
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21247928 PMID:24601690 More... NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
JBrowse link
G Ube2i ubiquitin-conjugating enzyme E2I ISO mRNA:increased expression:left ventricle RGD PMID:23360823 RGD:13831294 NCBI chr10:14,277,749...14,294,681
Ensembl chr10:69,701,618...69,702,443
Ensembl chr10:69,701,618...69,702,443
JBrowse link
G Ucn urocortin ISO protein:increased expression:heart left ventricle RGD PMID:11087261 PMID:14577573 RGD:1642796, RGD:1580792 NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950
JBrowse link
G Ucp1 uncoupling protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr19:24,808,782...24,816,853
Ensembl chr19:24,808,783...24,816,852
JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Cardiomyopathy, congestive
ClinVar
RGD
PMID:11815424 PMID:16949038 PMID:17785437 PMID:20474083 PMID:23396983 More... RGD:1580356 NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606
JBrowse link
G Wdr12 WD repeat domain 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25915632 NCBI chr 9:61,475,498...61,502,584
Ensembl chr 9:61,475,517...61,502,469
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
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
dilated cardiomyopathy 1A 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: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:24439875 PMID:25741868 PMID:27532257 PMID:28166811 More... NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 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 term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar PMID:21353195 PMID:24033266 PMID:25741868 PMID:28436997 PMID:28492532 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 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: Dilated cardiomyopathy 1A 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 Dot1l DOT1 like histone lysine methyltransferase ISS OMIM:115200 MouseDO NCBI chr 7:8,917,786...8,959,474
Ensembl chr 7:8,917,786...8,956,475
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:18957847 PMID:23863954 PMID:23911551 PMID:24033266 PMID:25741868 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: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 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: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar PMID:20716751 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24125834 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:26676105 NCBI chr16:32,917,826...32,919,880
Ensembl chr16:32,917,823...32,919,891
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:19377068 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar
OMIM
PMID:1839274 PMID:2270059 PMID:2280636 PMID:2526018 PMID:8621584 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: Dilated cardiomyopathy 1A ClinVar PMID:11499718 PMID:11815426 PMID:12110947 PMID:12707239 PMID:12818575 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 term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28082330 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: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30105547 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:84,661,783...84,727,730 JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar PMID:16783378 PMID:19712804 PMID:20301718 PMID:20590677 PMID:22004663 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:16712702 PMID:18508782 PMID:19716085 PMID:22581653 PMID:23631430 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25637381 PMID:25741868 NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 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 Ttn titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar PMID:9536098 PMID:17444505 PMID:17576681 PMID:21520333 PMID:22335739 More... NCBI chr 3:61,652,432...61,924,912 JBrowse link
dilated cardiomyopathy 1AA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 23
ClinVar Annotator: match by OMIM:612158
OMIM
ClinVar
PMID:2408213 PMID:9536098 PMID:14567970 PMID:17097056 PMID:17576681 More... NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
JBrowse link
dilated cardiomyopathy 1B 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: Dilated cardiomyopathy 1B ClinVar PMID:25741868 PMID:28492532 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 ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:14732481 PMID:21408211 PMID:24033266 PMID:25741868 PMID:26332594 More... NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1B
ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial
ClinVar PMID:9536098 PMID:17576681 PMID:21459883 PMID:24033266 PMID:24558114 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1B
ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial
ClinVar PMID:7599634 PMID:7849724 PMID:11710958 PMID:19760747 PMID:24033266 More... 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: Dilated cardiomyopathy 1B ClinVar PMID:25741868 PMID:28492532 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: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:18639457 PMID:20031616 PMID:24033266 PMID:25741868 PMID:28492532 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: Dilated cardiomyopathy 1B
ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial
ClinVar PMID:15941723 PMID:21606396 PMID:21636032 PMID:23299917 PMID:23861362 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1B ClinVar PMID:25741868 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G Fktn fukutin ISO DNA:insertion, missense mutations:exon:p.R179T (c.536G>C), p.Q358P (c.1073A>C) (human) RGD PMID:17036286 RGD:11576324 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: Dilated cardiomyopathy 1B ClinVar PMID:25741868 NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1B ClinVar PMID:25741868 PMID:28492532 NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1B
ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial
ClinVar PMID:15668942 PMID:20474083 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1B
ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial
ClinVar PMID:11897440 PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 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: Dilated cardiomyopathy 1B ClinVar PMID:2073894 PMID:9048664 PMID:9631872 PMID:10521296 PMID:10610770 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 term: Dilated cardiomyopathy 1B
ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial
ClinVar PMID:15998695 PMID:20215591 PMID:21483645 PMID:23861362 PMID:24033266 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 ClinVar Annotator: match by term: Dilated cardiomyopathy 1B ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:12951062 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1B ClinVar PMID:22286171 PMID:23299917 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1B ClinVar PMID:25741868 NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1B ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:84,661,783...84,727,730 JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:22558107 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1B ClinVar PMID:19712804 PMID:20590677 PMID:21483645 PMID:22004663 PMID:23861363 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 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1B ClinVar PMID:25741868 PMID:26132555 PMID:28492532 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: Dilated cardiomyopathy 1B
ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial
ClinVar PMID:9521325 PMID:11901046 PMID:12106943 PMID:14523039 PMID:15671429 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1B ClinVar PMID:25741868 PMID:28492532 NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1B ClinVar PMID:25741868 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001
JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1B 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 Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1B ClinVar PMID:15542288 PMID:19412328 PMID:20031601 PMID:20215591 PMID:20973921 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
JBrowse link
G Ttn titin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial
ClinVar Annotator: match by term: Dilated cardiomyopathy 1B
CTD
ClinVar
PMID:11788824 PMID:12145747 PMID:17444505 PMID:18948003 PMID:21520333 More... NCBI chr 3:61,652,432...61,924,912 JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1B
ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial
ClinVar PMID:15769782 PMID:16236538 PMID:16712796 PMID:17785437 PMID:23299917 More... NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606
JBrowse link
dilated cardiomyopathy 1BB 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: Dilated cardiomyopathy 1BB
ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy
OMIM
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 Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy ClinVar PMID:11684629 PMID:12923187 PMID:14654368 PMID:15623536 PMID:15769782 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
JBrowse link
dilated cardiomyopathy 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1C
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 24
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
ClinVar Annotator: match by term: Left ventricular noncompaction 3
OMIM
ClinVar
PMID:9536098 PMID:14660611 PMID:14662268 PMID:15668942 PMID:16427346 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
JBrowse link
dilated cardiomyopathy 1CC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC
ClinVar Annotator: match by OMIM:613122
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:19881492 PMID:20970104 PMID:24033266 More... NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342
JBrowse link
dilated cardiomyopathy 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction 6
ClinVar Annotator: match by term: Dilated cardiomyopathy 1D
ClinVar Annotator: match by OMIM:601494
OMIM
ClinVar
PMID:2003160 PMID:2946667 PMID:7898523 PMID:8205619 PMID:8951566 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
JBrowse link
dilated cardiomyopathy 1DD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD
ClinVar Annotator: match by OMIM:613172
OMIM
ClinVar
PMID:2204663 PMID:9536098 PMID:16783378 PMID:17576681 PMID:18585512 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD ClinVar PMID:15358028 PMID:19754353 PMID:24033266 PMID:24992688 PMID:25741868 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
JBrowse link
dilated cardiomyopathy 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA
ClinVar Annotator: match by term: Dilated cardiomyopathy 1E
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2
OMIM
ClinVar
PMID:2107088 PMID:3953067 PMID:8661019 PMID:9536098 PMID:10508990 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
dilated cardiomyopathy 1EE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1EE
ClinVar Annotator: match by OMIM:613252
OMIM
ClinVar
PMID:15998695 PMID:20215591 PMID:20656787 PMID:21483645 PMID:22194935 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
JBrowse link
dilated cardiomyopathy 1FF term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf5 Kruppel-like factor 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1FF ClinVar NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1FF
ClinVar Annotator: match by OMIM:613286
OMIM
ClinVar
PMID:3144325 PMID:9241277 PMID:10806205 PMID:11735257 PMID:12707239 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
JBrowse link
dilated cardiomyopathy 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekha3 pleckstrin homology domain containing A3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:21681106 PMID:22335739 NCBI chr 3:61,623,434...61,644,649
Ensembl chr 3:61,623,434...61,645,166
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G
ClinVar Annotator: match by OMIM:604145
OMIM
ClinVar
PMID:1745277 PMID:9536098 PMID:9804419 PMID:10051295 PMID:10053013 More... NCBI chr 3:61,652,432...61,924,912 JBrowse link
dilated cardiomyopathy 1GG term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG OMIM
ClinVar
PMID:12794685 PMID:16798039 PMID:20551992 PMID:24033266 PMID:25741868 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
dilated cardiomyopathy 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb3 adrenoceptor beta 3 susceptibility ISO DNA:missense mutation, haplotype:cds:p.W64R rs4994 (human) RGD PMID:20123316 RGD:5684357 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO mRNA:increased expression:left ventricle: RGD PMID:19332114 RGD:10053590 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:21353195 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28669108 NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 treatment ISO DNA:SNP:promoter:-344C>T (human) RGD PMID:12031704 RGD:1576426 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:23292937 PMID:24033266 PMID:25351510 PMID:25741868 PMID:28492532 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:19377068 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:2526018 PMID:10580070 PMID:10612827 PMID:10739751 PMID:11102973 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: Dilated cardiomyopathy with conduction defect ClinVar PMID:11499718 PMID:11815426 PMID:12110947 PMID:12707239 PMID:12818575 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 term: Dilated cardiomyopathy with conduction defect ClinVar PMID:24033266 PMID:25741868 PMID:28082330 PMID:28492532 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:19712804 PMID:20590677 PMID:22004663 PMID:22466703 PMID:23886709 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism (human)
DNA:polymorphisms (human)
RGD PMID:15996167 PMID:10432437 PMID:15498363 RGD:5147650, RGD:5147858, RGD:5147795 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*0303 (human)
DNA:polymorphisms (human)
RGD PMID:15996167 PMID:10432437 RGD:5147650, RGD:5147858 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO RGD PMID:12056860 RGD:9681470 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
JBrowse link
G Tnf tumor necrosis factor severity ISO RGD PMID:14676433 RGD:7401234 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Trpc5 transient receptor potential cation channel, subfamily C, member 5 ISO mRNA,protein:increased expression:heart: RGD PMID:16950785 RGD:10044019 NCBI chr  X:107,946,163...108,230,978
Ensembl chr  X:107,939,131...108,230,991
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:21520333 PMID:23418287 PMID:23975875 PMID:25589632 PMID:25741868 More... NCBI chr 3:61,652,432...61,924,912 JBrowse link
dilated cardiomyopathy 1HH term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1HH
ClinVar Annotator: match by OMIM:613881
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21353195 PMID:21361913 PMID:21459883 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
JBrowse link
dilated cardiomyopathy 1I 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: Dilated cardiomyopathy 1I OMIM
ClinVar
PMID:9697706 PMID:10430757 PMID:10717012 PMID:10905661 PMID:11728149 More... NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
dilated cardiomyopathy 1II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II OMIM
ClinVar
PMID:1560021 PMID:9536098 PMID:11013455 PMID:16483541 PMID:16793013 More... NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
JBrowse link
dilated cardiomyopathy 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1J
ClinVar Annotator: match by OMIM:605362
OMIM
ClinVar
PMID:9536098 PMID:10769282 PMID:11159937 PMID:15735644 PMID:16199547 More... NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976
JBrowse link
dilated cardiomyopathy 1JJ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ
ClinVar Annotator: match by OMIM:615235
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:17646580 PMID:20890277 PMID:21822268 More... NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
JBrowse link
dilated cardiomyopathy 1KK term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mypn myopalladin ISO ClinVar Annotator: match by OMIM:615248
ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 22
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:18006477 PMID:20801532 PMID:22286171 More... NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
JBrowse link
dilated cardiomyopathy 1L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1L
ClinVar Annotator: match by OMIM:606685
OMIM
ClinVar
PMID:8841194 PMID:10735275 PMID:10838250 PMID:10974018 PMID:14564412 More... NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840
JBrowse link
Dilated Cardiomyopathy 1LL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1LL ClinVar PMID:23768516 PMID:24033266 PMID:25741868 PMID:27535533 PMID:28492532 NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
JBrowse link
dilated cardiomyopathy 1M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1M OMIM
ClinVar
PMID:9039266 PMID:12507422 PMID:12642359 PMID:14567970 PMID:15781201 More... NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653
JBrowse link
dilated cardiomyopathy 1NN term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1nn
ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1NN
ClinVar
OMIM
PMID:1760348 PMID:8601312 PMID:10064593 PMID:12077328 PMID:17603482 More... NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
JBrowse link
dilated cardiomyopathy 1O 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: Dilated cardiomyopathy 1O
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA
ClinVar Annotator: match by OMIM:608569
OMIM
ClinVar
PMID:9536098 PMID:12166651 PMID:15034580 PMID:16563363 PMID:16835932 More... NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
JBrowse link
dilated cardiomyopathy 1P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1P ClinVar PMID:12610310 PMID:12639993 PMID:16235537 PMID:16432188 PMID:16829191 More... NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1P OMIM
ClinVar
PMID:12610310 PMID:12639993 PMID:16235537 PMID:16432188 PMID:16829191 More... NCBI chr20:32,629,537...32,639,559 JBrowse link
dilated cardiomyopathy 1R term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1R ClinVar
OMIM
PMID:9563954 PMID:19799913 PMID:22555271 PMID:22590617 PMID:23054336 More... NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
JBrowse link
dilated cardiomyopathy 1S 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: Dilated cardiomyopathy 1S ClinVar NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:28492532 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: Dilated cardiomyopathy 1S ClinVar PMID:25741868 PMID:28492532 PMID:29253866 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S 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: Dilated cardiomyopathy 1S ClinVar PMID:11897440 PMID:15219508 PMID:15539782 PMID:16061563 PMID:16537768 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S
ClinVar Annotator: match by term: Left ventricular noncompaction 5
ClinVar Annotator: match by OMIM:613426
ClinVar Annotator: match by synonym: Left ventricular noncompaction 5
OMIM
ClinVar
PMID:1430197 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517