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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:Hypertrophy
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Accession:DOID:9000040 term browser browse the term
Definition:General increase in bulk of a part or organ due to CELL ENLARGEMENT and accumulation of FLUIDS AND SECRETIONS, not due to tumor formation, nor to an increase in the number of cells (HYPERPLASIA).
Synonyms:exact_synonym: Hypertrophies
 primary_id: MESH:D006984;   RDO:0001544
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19553346 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:12054679, PMID:12237323, PMID:18785976, PMID:21071431, PMID:24039778, PMID:26955731 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20961953 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Angpt1 angiopoietin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18502941 NCBI chr 7:81,338,327...81,592,459
Ensembl chr 7:81,342,280...81,592,206
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27652271 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Crem cAMP responsive element modulator ISO CTD Direct Evidence: therapeutic CTD PMID:12791704 NCBI chr17:57,021,704...57,090,888
Ensembl chr17:57,031,766...57,090,888
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:18785976 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12791704, PMID:20177073 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G F2 coagulation factor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:26385185 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12237323 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12237323 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18273840 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO CTD Direct Evidence: therapeutic CTD PMID:20582486 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Npy neuropeptide Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:9812770 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:19211884 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Rln1 relaxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22028442 NCBI chr 1:247,483,298...247,486,331
Ensembl chr 1:247,483,302...247,486,202
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23297412 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20177073 NCBI chr 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535
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, PMID:29625556 NCBI chr 2:120,503,093...120,531,782
Ensembl chr 2:120,504,130...120,531,782
JBrowse link
Banti's Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO protein:increased expression:serum (human) RGD PMID:21290180 RGD:25671452 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Itgb3 integrin subunit beta 3 ISO DNA:missense mutation: :p.L33P (human) RGD PMID:18685811 RGD:10755472 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:18685811 RGD:10755472 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:18685811 RGD:10755472 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
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 2:261,058,919...261,139,463 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 2:261,069,210...261,337,294
Ensembl chr 2:261,069,203...261,337,163
JBrowse link
Cardiomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin IDA RGD PMID:12494268 RGD:1549856 NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Ace angiotensin I converting enzyme treatment IMP RGD PMID:24342267 RGD:11039415 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Acot2 acyl-CoA thioesterase 2 IEP mRNA:decreased expression:heart (rat) RGD PMID:15292030 RGD:2315862 NCBI chr 6:107,460,596...107,468,324
Ensembl chr 6:107,460,668...107,467,487
JBrowse link
G Adra1b adrenoceptor alpha 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:11278430, PMID:11940550 NCBI chr10:29,392,762...29,450,644
Ensembl chr10:29,392,762...29,450,644
JBrowse link
G Adra2a adrenoceptor alpha 2A ISO CTD Direct Evidence: therapeutic CTD PMID:20083574 NCBI chr 1:274,766,283...274,769,083
Ensembl chr 1:274,766,283...274,769,081
JBrowse link
G Adra2c adrenoceptor alpha 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:20083574 NCBI chr14:80,730,307...80,732,010
Ensembl chr14:80,730,307...80,732,010
JBrowse link
G Agt angiotensinogen IDA
ISO
CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:11403367, PMID:15226216, PMID:15851630, PMID:15870116, PMID:17124262, PMID:18400235, PMID:19794523, PMID:20190099, PMID:20409916, PMID:20429690, PMID:20616315, PMID:20811386, PMID:22291909, PMID:22335191, PMID:24342267, PMID:25139994, PMID:25488910, PMID:27099261, PMID:29353218, PMID:30703374, PMID:31016362, PMID:21367774, PMID:24342267, PMID:19779471 RGD:5129174, RGD:11039415, RGD:8548902 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr1a angiotensin II receptor, type 1a IMP
ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:17350036, PMID:21367774, PMID:11324571, PMID:10639182 RGD:5129174, RGD:10047105, RGD:737777 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Agtr1b angiotensin II receptor, type 1b IEP RGD PMID:11324571 RGD:10047105 NCBI chr 2:105,149,020...105,224,335
Ensembl chr 2:105,149,020...105,224,295
JBrowse link
G Agtrap angiotensin II receptor-associated protein IEP RGD PMID:18725581 RGD:2314351 NCBI chr 5:164,888,069...164,898,387
Ensembl chr 5:164,886,813...164,898,420
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24247421 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Akap5 A-kinase anchoring protein 5 ISO human gene, mouse model
CTD Direct Evidence: therapeutic
CTD PMID:11248077, PMID:11248077 RGD:2313290 NCBI chr 6:99,356,509...99,361,909
Ensembl chr 6:99,356,509...99,361,909
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24448315, PMID:12237475 RGD:734544 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Ankrd1 ankyrin repeat domain 1 IDA RGD PMID:10904011 RGD:1578370 NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
JBrowse link
G Anxa2 annexin A2 IEP mRNA:increased expression:heart: RGD PMID:10603972 RGD:10053694 NCBI chr 8:75,687,134...75,723,589
Ensembl chr 8:75,687,100...75,723,594
JBrowse link
G Anxa5 annexin A5 IEP mRNA:increased expression:heart: RGD PMID:10603972 RGD:10053694 NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6218830 NCBI chr 4:78,496,043...78,515,582
Ensembl chr 4:78,496,043...78,515,584
JBrowse link
G Apln apelin IEP associated with Hypertension;protein:decreased expression:plasma, aorta, ventricle myocardium RGD PMID:16674982 RGD:1626173 NCBI chr  X:134,856,719...134,866,210
Ensembl chr  X:134,856,726...134,866,210
JBrowse link
G Atf3 activating transcription factor 3 ISO RGD PMID:11485922 RGD:7327201 NCBI chr13:109,817,892...109,849,632
Ensembl chr13:109,817,728...109,849,632
JBrowse link
G Atg16l1 autophagy related 16-like 1 treatment IEP RGD PMID:24998254 RGD:11561938 NCBI chr 9:94,879,876...94,915,231
Ensembl chr 9:94,879,745...94,915,228
JBrowse link
G Atg5 autophagy related 5 treatment IEP RGD PMID:24998254 RGD:11561938 NCBI chr20:49,301,783...49,393,147
Ensembl chr20:49,318,308...49,393,140
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 IDA RGD PMID:15644428 RGD:6903354 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 treatment ISO
IDA
CTD Direct Evidence: marker/mechanism CTD PMID:11679415, PMID:29792884 RGD:13782078 NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment IEP RGD PMID:25880160 RGD:13792672 NCBI chr 7:12,426,807...12,432,120
Ensembl chr 7:12,426,809...12,432,130
JBrowse link
G Avpr1a arginine vasopressin receptor 1A IMP associated with Heart Failure, Congestive RGD PMID:18467593 RGD:2300338 NCBI chr 7:67,341,366...67,345,290
Ensembl chr 7:67,341,080...67,345,308
JBrowse link
G Bad BCL2-associated agonist of cell death treatment IDA associated with Hypertension RGD PMID:21921241 RGD:10053646 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
JBrowse link
G Bambi BMP and activin membrane-bound inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr17:56,905,419...56,909,675
Ensembl chr17:56,905,112...56,909,992
JBrowse link
G Becn1 beclin 1 treatment IEP mRNA, protein:increased expression:heart left ventricle RGD PMID:23326547, PMID:24998254 RGD:11561904, RGD:11561938 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:heart: RGD PMID:23747723 RGD:8847123 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit ISO RGD PMID:18420946 RGD:9686423 NCBI chr 6:137,762,230...137,808,573
Ensembl chr 6:137,765,122...137,808,303
JBrowse link
G Cabin1 calcineurin binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11248077 NCBI chr20:13,836,032...13,963,003
Ensembl chr20:13,836,030...13,963,003
JBrowse link
G Cav1 caveolin 1 IEP
ISO
protein:increased expression:aorta
CTD Direct Evidence: marker/mechanism
CTD PMID:17487232, PMID:17487232 RGD:2289120 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cav3 caveolin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19299911 NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: therapeutic CTD PMID:15576649 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
JBrowse link
G Cd36 CD36 molecule treatment ISO associated with Obesity RGD PMID:26036798 RGD:11040928 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd38 CD38 molecule IMP RGD PMID:18719074 RGD:2307236 NCBI chr14:71,714,768...71,754,990
Ensembl chr14:71,715,269...71,754,672
JBrowse link
G Cd44 CD44 molecule (Indian blood group) IEP protein:increased expression:coronary artery RGD PMID:18196276 RGD:2289364 NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
JBrowse link
G Cma1 chymase 1 ISO mRNA:increased expression:heart left ventricle (mouse) RGD PMID:11828013 RGD:5128508 NCBI chr15:34,601,037...34,603,819
Ensembl chr15:34,601,037...34,603,819
JBrowse link
G Corin corin, serine peptidase ISO
IEP
mRNA:increased expression:heart (rat) RGD PMID:17485366, PMID:15191894 RGD:1626338, RGD:1581217 NCBI chr14:38,247,379...38,474,931
Ensembl chr14:38,247,791...38,473,648
JBrowse link
G Cox5b cytochrome c oxidase subunit 5B IEP associated with Hypertension RGD PMID:16132109 RGD:2301377 NCBI chr 9:43,259,706...43,262,039
Ensembl chr 9:43,259,709...43,262,040
JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24330405 NCBI chr 7:130,395,211...130,404,731
Ensembl chr 7:130,395,194...130,405,347
JBrowse link
G Crem cAMP responsive element modulator ISO RGD PMID:15569686 RGD:1581291 NCBI chr17:57,021,704...57,090,888
Ensembl chr17:57,031,766...57,090,888
JBrowse link
G Ctf1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18400235, PMID:19100119 NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 IEP
ISO
mRNA:increased expression:cardiac muscle tissue (rat)
mRNA:increased expression:cardiac muscle tissue (mouse)
RGD PMID:19349910, PMID:19349910 RGD:4145630, RGD:4145630 NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 IMP RGD PMID:15939810 RGD:2307307 NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18725507 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 treatment ISO
IDA
associated with Hypertension
CTD Direct Evidence: marker/mechanism
CTD PMID:18725507, PMID:20805442, PMID:20805442 RGD:7829714, RGD:7829714 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18725507 NCBI chr 1:257,676,172...258,004,428
Ensembl chr 1:257,970,345...258,004,434
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18725507 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Cyp4a3 cytochrome P450, family 4, subfamily a, polypeptide 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18725507 NCBI chr 5:134,468,666...134,484,851
Ensembl chr 5:134,469,270...134,484,839
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23297412 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Edn1 endothelin 1 severity IEP
ISO
protein:increased expression:heart ventricle, plasma (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:22198280, PMID:7771559 RGD:8661803 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:15652507 RGD:1580954 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:16025126 RGD:5131654 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Ep300 E1A binding protein p300 IEP associated with Diabetes Mellitus, Experimental; mRNA:increased expression:heart left ventricle (rat) RGD PMID:23211718 RGD:7327187 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G Errfi1 ERBB receptor feedback inhibitor 1 treatment ISO
IDA
protein:increased expression:heart: RGD PMID:19204184, PMID:19204184 RGD:9685562, RGD:9685562 NCBI chr 5:167,951,564...167,966,011
Ensembl chr 5:167,952,728...167,966,009
JBrowse link
G Fgf2 fibroblast growth factor 2 IEP
ISO
mRNA:increased expression:heart
CTD Direct Evidence: marker/mechanism
CTD PMID:10491406, PMID:18196276 RGD:2289364 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Fgf21 fibroblast growth factor 21 ISO RGD PMID:23771152 RGD:10401893 NCBI chr 1:101,595,579...101,596,822
Ensembl chr 1:101,595,579...101,596,822
JBrowse link
G Fhl2 four and a half LIM domains 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25358972 NCBI chr 9:49,920,611...49,994,906
Ensembl chr 9:49,920,854...49,950,093
JBrowse link
G Fndc5 fibronectin type III domain containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:30703374 NCBI chr 5:147,323,240...147,330,266
Ensembl chr 5:147,323,240...147,330,266
JBrowse link
G Fxyd1 FXYD domain-containing ion transport regulator 1 treatment ISO RGD PMID:24218169 RGD:9685471 NCBI chr 1:89,484,197...89,488,279
Ensembl chr 1:89,484,199...89,488,223
JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19564549 NCBI chr16:81,213,364...81,243,824
Ensembl chr16:81,213,364...81,243,757
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16259952, PMID:18252717 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Glrx3 glutaredoxin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:16809552 NCBI chr 1:209,768,696...209,799,912
Ensembl chr 1:209,768,696...209,799,903
JBrowse link
G Gnaq G protein subunit alpha q ISO RGD PMID:9811897 RGD:1598475 NCBI chr 1:233,382,778...233,622,584
Ensembl chr 1:233,382,708...233,622,786
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 severity ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:heart left ventricle (mouse)
CTD PMID:11901213, PMID:23969695, PMID:25982117 RGD:13792712, RGD:11052788 NCBI chr 1:219,536,220...219,544,329
Ensembl chr 1:219,536,220...219,544,328
JBrowse link
G Grk3 G protein-coupled receptor kinase 3 IEP mRNA:increased expression:heart left ventricle (rat) RGD PMID:20677219 RGD:5685025 NCBI chr12:49,626,871...49,750,389
Ensembl chr12:49,626,871...49,746,272
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:17901358, PMID:19318234 RGD:10045585 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G Gsn gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30240538 NCBI chr 3:14,456,106...14,508,922
Ensembl chr 3:14,467,330...14,508,911
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP RGD PMID:24424338 RGD:11041632 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hand1 heart and neural crest derivatives expressed 1 IEP
ISO
mRNA:decreased expression:heart ventricle
mRNA:decreased expression:heart left ventricle
RGD PMID:12359233, PMID:12359233 RGD:727442, RGD:727442 NCBI chr10:43,250,729...43,253,296
Ensembl chr10:43,250,745...43,253,296
JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 IEP
ISO
mRNA:altered expression:cardiac ventricle
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:heart right ventricle
CTD PMID:29394407, PMID:12359233, PMID:12359233 RGD:727442, RGD:727442 NCBI chr16:36,371,489...36,373,551
Ensembl chr16:36,371,489...36,373,546
JBrowse link
G Has1 hyaluronan synthase 1 IEP mRNA:increased expression:heart RGD PMID:18196276 RGD:2289364 NCBI chr 1:59,720,612...59,732,409
Ensembl chr 1:59,720,612...59,732,409
JBrowse link
G Has2 hyaluronan synthase 2 IEP mRNA:increased expression:heart RGD PMID:18196276 RGD:2289364 NCBI chr 7:96,438,046...96,464,049
Ensembl chr 7:96,438,046...96,464,049
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased activity:heart:
CTD Direct Evidence: marker/mechanism
protein:increased acetylation:heart:
CTD PMID:18625706, PMID:18849323, PMID:24526703 RGD:2306446, RGD:9590211 NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
JBrowse link
G Hdac8 histone deacetylase 8 treatment ISO
IEP
associated with Hypertension RGD PMID:25504627, PMID:23868068 RGD:13208811, RGD:9681716 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Hfe homeostatic iron regulator ISO associated with hemochromatosis RGD PMID:28720890 RGD:14746969 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15942707 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hmgb1 high mobility group box 1 treatment ISO RGD PMID:23708738 RGD:10402070 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15226216 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hrc histidine rich calcium binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17030629 NCBI chr 1:101,324,788...101,328,391
Ensembl chr 1:101,324,652...101,328,435
JBrowse link
G Hsf1 heat shock transcription factor 1 treatment IDA RGD PMID:25804640 RGD:10402399 NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15302781, PMID:19023134, PMID:20374255 NCBI chr 9:93,112,781...93,130,135
Ensembl chr 9:93,112,805...93,125,014
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10547078 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:18801929 RGD:2311509 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18660453 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta IEP
ISO
mRNA, protein:increased expression:heart
CTD Direct Evidence: marker/mechanism
CTD PMID:15302781, PMID:15542404 RGD:1581939 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 IEP mRNA, protein:increased expression:heart RGD PMID:15542404 RGD:1581939 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il6st interleukin 6 signal transducer ISO RGD PMID:10219240 RGD:737751 NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:23589561 RGD:11530060 NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
JBrowse link
G Irx4 iroquois homeobox 4 ISO RGD PMID:11238910 RGD:1582289 NCBI chr 1:32,634,774...32,645,151
Ensembl chr 1:32,634,796...32,643,771
JBrowse link
G Itga3 integrin subunit alpha 3 IEP protein:increased expression:cardiac myocyte (rat) RGD PMID:1835909 RGD:2325829 NCBI chr10:82,855,841...82,887,755
Ensembl chr10:82,855,613...82,887,497
JBrowse link
G Itpr2 inositol 1,4,5-trisphosphate receptor, type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20616315 NCBI chr 4:180,423,452...180,800,088
Ensembl chr 4:180,538,389...180,722,358
JBrowse link
G Kat8 lysine acetyltransferase 8 treatment ISO mRNA, protein:decreased expression:heart (mouse)
human gene in a mouse model
RGD PMID:24802406, PMID:24802406 RGD:9586036, RGD:9586036 NCBI chr 1:199,360,645...199,372,925
Ensembl chr 1:199,360,645...199,372,923
JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO protein:decreased expression:heart: RGD PMID:23747723 RGD:8847123 NCBI chr 2:207,923,775...208,140,727
Ensembl chr 2:207,923,775...208,140,727
JBrowse link
G Kdm4a lysine demethylase 4A ISO RGD PMID:21555854 RGD:9587422 NCBI chr 5:136,967,650...137,014,402
Ensembl chr 5:136,967,650...137,014,430
JBrowse link
G Kl Klotho treatment ISO RGD PMID:23225045 RGD:10403062 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Klf5 Kruppel-like factor 5 ISO RGD PMID:15098654 RGD:1304323 NCBI chr15:83,703,796...83,722,921
Ensembl chr15:83,703,791...83,722,921
JBrowse link
G Klk1 kallikrein 1 ISO RGD PMID:17137568 RGD:1641797 NCBI chr 1:100,131,562...100,135,556
Ensembl chr 1:100,059,967...100,203,329
Ensembl chr 1:100,059,967...100,203,329
Ensembl chr 1:100,059,967...100,203,329
JBrowse link
G Klk1c12 kallikrein 1-related peptidase C12 ISO RGD PMID:17137568 RGD:1641797 NCBI chr 1:99,298,965...99,303,048
Ensembl chr 1:99,299,011...99,303,048
JBrowse link
G Lif LIF, interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:15226216 NCBI chr14:84,482,652...84,500,574
Ensembl chr14:84,482,674...84,500,642
JBrowse link
G Loxl1 lysyl oxidase-like 1 IEP RGD PMID:17378376 RGD:7394734 NCBI chr 8:63,067,757...63,092,124
Ensembl chr 8:63,067,300...63,092,009
JBrowse link
G Lyn LYN proto-oncogene, Src family tyrosine kinase IEP RGD PMID:17039281 RGD:2303711 NCBI chr 5:16,526,058...16,642,648
Ensembl chr 5:16,526,058...16,642,648
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha treatment IEP RGD PMID:24998254 RGD:11561938 NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
JBrowse link
G Map2k5 mitogen activated protein kinase kinase 5 ISO RGD PMID:11387209 RGD:1580866 NCBI chr 8:68,055,976...68,282,656
Ensembl chr 8:68,055,972...68,282,590
JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:15722372, PMID:12750397 RGD:1582275, RGD:13782145 NCBI chr10:98,707,160...98,823,054
Ensembl chr10:98,706,960...98,823,287
JBrowse link
G Mapk1 mitogen activated protein kinase 1 IDA RGD PMID:15607907 RGD:1582283 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:12668503 RGD:1582316 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase IEP protein:increased expression:ventricle (rat) RGD PMID:10489112 RGD:2317547 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mfn1 mitofusin 1 treatment ISO RGD PMID:28503736 RGD:12910714 NCBI chr 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698
JBrowse link
G Mfn2 mitofusin 2 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism
associated with Hypertension:protein:decreased expression:heart (rat)
mRNA, protein:decreased expression:heart (mouse)
CTD PMID:17499311, PMID:27085127, PMID:27565029, PMID:27847271, PMID:28503736 RGD:12910835, RGD:12910768, RGD:12910764, RGD:12910714 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mir125b2 microRNA 125b-2 ISO CTD Direct Evidence: therapeutic CTD PMID:29122578 NCBI chr11:16,097,346...16,097,433 JBrowse link
G Mir21 microRNA 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17525252 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Mir30a microRNA 30a IEP RNA:decreased expression:heart left ventricle RGD PMID:23326547 RGD:11561904 NCBI chr 9:29,542,635...29,542,705
Ensembl chr 9:29,542,635...29,542,705
JBrowse link
G Mir30b microRNA 30b IEP RNA:decreased expression:heart left ventricle RGD PMID:23326547 RGD:11561904 NCBI chr 7:109,282,662...109,282,747
Ensembl chr 7:109,282,658...109,282,752
JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP RGD PMID:16327176 RGD:1582627 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP mRNA:increased expression:heart left ventricle RGD PMID:17207419 RGD:1642047 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mt2A metallothionein 2A ISO CTD Direct Evidence: therapeutic CTD PMID:11309296 NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
JBrowse link
G Mtor mechanistic target of rapamycin kinase IMP associated with Aortic Valve Stenosis RGD PMID:20861467 RGD:10003169 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Mybpc3 myosin binding protein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22189562 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor treatment IDA RGD PMID:22000973 RGD:7240700 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Myh6 myosin heavy chain 6 IEP RGD PMID:1703406 RGD:12798563 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 IEP RGD PMID:1703406 RGD:12798563 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Myocd myocardin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16556869 NCBI chr10:51,682,053...51,781,458
Ensembl chr10:51,683,540...51,778,986
JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 IEP RGD PMID:24388463 RGD:7800726 NCBI chr 3:79,721,686...79,728,863
Ensembl chr 3:79,721,694...79,728,879
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28973413 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 IEP protein:increased expression:heart, plasma membrane (rat) RGD PMID:14559858 RGD:5132887 NCBI chr10:81,657,152...81,666,542
Ensembl chr10:81,657,153...81,666,523
JBrowse link
G Nos1 nitric oxide synthase 1 IEP RGD PMID:17673519 RGD:1642136 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nos3 nitric oxide synthase 3 treatment IEP
ISO
protein:increased expression:aorta
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:11504159, PMID:12224825, PMID:16844920, PMID:17487232, PMID:17487232, PMID:29331788 RGD:2289120, RGD:13504707 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nppa natriuretic peptide A treatment IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:12224825, PMID:18056528, PMID:20886221, PMID:21242511, PMID:21297083, PMID:22083722, PMID:23905381 RGD:7297051 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Nppb natriuretic peptide B treatment IEP
ISO
IDA
associated with Hypertension;mRNA:increased expression:heart
CTD Direct Evidence: marker/mechanism
CTD PMID:15942707, PMID:15969258, PMID:18056528, PMID:21565836, PMID:16762434, PMID:23905381 RGD:1642206, RGD:7297051 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO associated with Hypertension
CTD Direct Evidence: marker/mechanism
CTD PMID:20881240, PMID:9405681 RGD:737701 NCBI chr 2:189,840,403...189,857,032
Ensembl chr 2:189,840,403...189,856,090
JBrowse link
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase IEP protein:increased expression:heart left ventricle (rat) RGD PMID:22128088 RGD:9590202 NCBI chr  X:71,540,870...71,585,906
Ensembl chr  X:71,528,988...71,585,908
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase treatment ISO
IEP
associated with Hypertension RGD PMID:22406748, PMID:28503736, PMID:24388463 RGD:7800697, RGD:12910714, RGD:7800726 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO RGD PMID:22082674 RGD:11533929 NCBI chr 1:162,768,156...162,883,356
Ensembl chr 1:162,768,156...162,883,355
JBrowse link
G Parp2 poly (ADP-ribose) polymerase 2 treatment IEP RGD PMID:25281201 RGD:13514043 NCBI chr15:27,739,416...27,749,650
Ensembl chr15:27,739,251...27,749,648
JBrowse link
G Pde5a phosphodiesterase 5A treatment ISO RGD PMID:15665834 RGD:1581008 NCBI chr 2:226,899,604...227,044,916
Ensembl chr 2:226,900,619...227,041,576
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta IEP associated with Hypertension;protein:increased expression:heart RGD PMID:11973598 RGD:2292215 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:12963636 NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
JBrowse link
G Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 ISO RGD PMID:23487407 RGD:8693424 NCBI chr 8:21,669,236...21,680,615
Ensembl chr 8:21,669,236...21,680,615
JBrowse link
G Plau plasminogen activator, urokinase treatment IDA RGD PMID:22160250 RGD:7241558 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Pld1 phospholipase D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15988127 NCBI chr 2:113,651,967...113,849,403
Ensembl chr 2:113,652,348...113,849,403
JBrowse link
G Pld2 phospholipase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15988127 NCBI chr10:57,161,921...57,181,148
Ensembl chr10:57,163,174...57,179,730
JBrowse link
G Plpp3 phospholipid phosphatase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28982073 NCBI chr 5:124,690,214...124,765,499
Ensembl chr 5:124,690,214...124,765,498
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1965992, PMID:2821097, PMID:6088243, PMID:8279378, PMID:8381257, PMID:19039989 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Postn periostin severity IEP mRNA,protein:increased expression:left ventricle: RGD PMID:16414453 RGD:10040951 NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:22198280 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Ppard peroxisome proliferator-activated receptor delta IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:20075336, PMID:15728586 RGD:1580656 NCBI chr20:7,818,289...7,883,482
Ensembl chr20:7,818,289...7,885,333
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP
ISO
protein:increased expression:myocardium of left ventricle (rat) RGD PMID:22105890, PMID:14726475 RGD:7242192, RGD:10053662 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:12515860 RGD:734902 NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 ISO CTD Direct Evidence: therapeutic CTD PMID:18812163 NCBI chr 5:124,568,845...124,642,569
Ensembl chr 5:124,574,079...124,642,569
JBrowse link
G Prkca protein kinase C, alpha IAGP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:21565836, PMID:15792354 RGD:1581271 NCBI chr10:96,186,509...96,585,168
Ensembl chr10:96,191,133...96,584,947
JBrowse link
G Prkcb protein kinase C, beta IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:17121852, PMID:12887134 RGD:1581276 NCBI chr 1:192,233,569...192,575,339
Ensembl chr 1:192,233,910...192,574,831
JBrowse link
G Prkcd protein kinase C, delta IEP
IAGP
associated with Hypertension RGD PMID:15792354, PMID:15792354 RGD:1581271, RGD:1581271 NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
JBrowse link
G Prkce protein kinase C, epsilon IAGP RGD PMID:15792354 RGD:1581271 NCBI chr 6:9,483,400...9,973,396
Ensembl chr 6:9,790,422...9,973,396
JBrowse link
G Prkcz protein kinase C, zeta ISO CTD Direct Evidence: therapeutic CTD PMID:27094369 NCBI chr 5:172,658,071...172,769,492
Ensembl chr 5:172,658,748...172,769,421
JBrowse link
G Pten phosphatase and tensin homolog IEP
ISO
RGD PMID:16188065, PMID:11448956 RGD:2292549, RGD:1581282 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Pygm glycogen phosphorylase, muscle associated IEP mRNA:increased expression:cardiocyte RGD PMID:14618266 RGD:1599987 NCBI chr 1:221,756,325...221,771,142
Ensembl chr 1:221,756,286...221,771,143
JBrowse link
G Rac1 Rac family small GTPase 1 ISO RGD PMID:16698001, PMID:16651530 RGD:1581293, RGD:1581294 NCBI chr12:13,090,316...13,111,841
Ensembl chr12:13,090,172...13,111,873
JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO DNA:point mutation:exon:p.D486N (mouse) RGD PMID:22826437 RGD:12910709 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
JBrowse link
G Ramp2 receptor activity modifying protein 2 IEP RGD PMID:15680493 RGD:1642686 NCBI chr10:89,166,170...89,168,962
Ensembl chr10:89,166,890...89,168,965
JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor 3 susceptibility IEP
ISO
protein:increased expression:left ventricle myocardium (rat) RGD PMID:18323524, PMID:25411381 RGD:9835356, RGD:9850089 NCBI chr 7:139,232,263...139,254,668
Ensembl chr 7:139,232,251...139,254,551
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO RGD PMID:18420946 RGD:9686423 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121852 NCBI chr 3:147,793,014...147,809,941
Ensembl chr 3:147,793,017...147,809,919
JBrowse link
G Rcan1 regulator of calcineurin 1 IDA RGD PMID:12124198 RGD:625605 NCBI chr11:32,539,689...32,620,274
Ensembl chr11:32,539,683...32,550,539
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit treatment IDA RGD PMID:15728586, PMID:15749748 RGD:1580656, RGD:1581122 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Ren renin ISO mRNA:increased expression:heart, kidney (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:20429690, PMID:20811386, PMID:15367398 RGD:6771378 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G Rhoa ras homolog family member A IEP
ISO
associated with Hypertension;protein:increased activation:heart
protein:increased expression:cardiac muscle cell
RGD PMID:17184496, PMID:17316608 RGD:1642810, RGD:1642807 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 6:42,180,864...42,289,910
Ensembl chr 6:42,180,894...42,289,908
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased threonine phosphorylation:heart left ventricle RGD PMID:16540832 RGD:1642998 NCBI chr10:73,824,200...73,865,503
Ensembl chr10:73,824,202...73,865,364
JBrowse link
G Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18056528, PMID:18056528 RGD:2311701 NCBI chr19:561,696...564,929
Ensembl chr19:561,727...564,930
JBrowse link
G S100a1 S100 calcium binding protein A1 IDA RGD PMID:12619862 RGD:735233 NCBI chr 2:189,900,505...189,905,348
Ensembl chr 2:189,900,667...189,903,219
JBrowse link
G S1pr1 sphingosine-1-phosphate receptor 1 IDA RGD PMID:11549339 RGD:1357201 NCBI chr 2:218,654,406...218,658,761
Ensembl chr 2:218,654,554...218,658,761
JBrowse link
G Shc1 SHC adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19168439 NCBI chr 2:188,745,503...188,757,066
Ensembl chr 2:188,745,503...188,757,066
JBrowse link
G Sirt1 sirtuin 1 treatment IEP RGD PMID:25281201 RGD:13514043 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Sirt4 sirtuin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27099261 NCBI chr12:46,862,358...46,876,593
Ensembl chr12:46,868,416...46,876,592
JBrowse link
G Sirt6 sirtuin 6 IEP
ISO
CTD Direct Evidence: therapeutic CTD PMID:22335191, PMID:22335191 RGD:9586060 NCBI chr 7:10,937,622...10,943,048
Ensembl chr 7:10,937,599...10,943,063
JBrowse link
G Slc25a4 solute carrier family 25 member 4 treatment IMP associated with Hypertension RGD PMID:17210842 RGD:9681469 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22221582 NCBI chr10:56,552,921...56,558,562
Ensembl chr10:56,552,983...56,558,487
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO associated with Anemia, Hemolytic RGD PMID:17056673 RGD:10450496 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Slc8a1 solute carrier family 8 member A1 ISO
IDA
protein:increased serine phosphorylation:heart
associated with Hypertension;protein:decreased activity:heart left ventricle, cardiac muscle cell
RGD PMID:17446477, PMID:15615841 RGD:1642725, RGD:1642713 NCBI chr 6:4,244,076...4,564,262
Ensembl chr 6:4,258,991...4,520,604
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19293248 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Sox4 SRY-box transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr17:37,615,022...37,619,728 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15534078 RGD:1581339 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18194989 NCBI chr 3:153,547,807...153,595,643
Ensembl chr 3:153,580,861...153,595,642
JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 ISO mRNA:increased expression:heart left ventricle (human) RGD PMID:12374776 RGD:4891966 NCBI chr 1:36,320,504...36,354,694
Ensembl chr 1:36,320,461...36,354,756
JBrowse link
G Srf serum response factor ISO RGD PMID:12909581 RGD:1581425 NCBI chr 9:16,737,637...16,747,226
Ensembl chr 9:16,737,642...16,747,225
JBrowse link
G Sri sorcin ISO RGD PMID:11485922 RGD:7327201 NCBI chr 4:23,004,657...23,029,233
Ensembl chr 4:23,006,243...23,018,983
JBrowse link
G Star steroidogenic acute regulatory protein IEP mRNA:increased expression:cardiac muscle tissue (rat) RGD PMID:19349910 RGD:4145630 NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10618415, PMID:19299911, PMID:24448315 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Stk11 serine/threonine kinase 11 ISO protein:decreased expression:heart RGD PMID:17098823 RGD:1601391 NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
JBrowse link
G Stox1 storkhead box 1 ISO associated with Pre-Eclampsia; human gene fetally expressed in a mouse model RGD PMID:26758611 RGD:11553897 NCBI chr20:32,276,857...32,353,677
Ensembl chr20:32,276,658...32,353,677
JBrowse link
G Tbx20 T-box transcription factor 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 8:25,849,394...25,904,570
Ensembl chr 8:25,850,962...25,904,570
JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP mRNA, protein:increased expression:heart RGD PMID:15542404 RGD:1581939 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 IEP RGD PMID:10067796 RGD:2290471 NCBI chr 4:147,156,948...147,163,467
Ensembl chr 4:147,156,948...147,163,467
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15302781, PMID:17337591, PMID:18034274 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:17556660 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link
G Tomm70 translocase of outer mitochondrial membrane 70 IEP
ISO
protein:decreased expression:left ventricle myocardium
protein:decreased expression:heart
RGD PMID:25022898, PMID:25022898 RGD:13464131, RGD:13464131 NCBI chr11:45,477,053...45,511,409
Ensembl chr11:45,480,250...45,510,961
JBrowse link
G Trim63 tripartite motif containing 63 ISO CTD Direct Evidence: therapeutic CTD PMID:19168726 NCBI chr 5:152,533,362...152,547,138
Ensembl chr 5:152,533,349...152,547,179
JBrowse link
G Trpc1 transient receptor potential cation channel, subfamily C, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17174323 NCBI chr 8:103,503,982...103,554,905
Ensembl chr 8:103,503,985...103,554,468
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO mRNA:increased expression:heart RGD PMID:23212367 RGD:7247443 NCBI chr 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 IEP mRNA:increased expression:heart RGD PMID:16966582 RGD:10003036 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
JBrowse link
G Ubtf upstream binding transcription factor ISO RGD PMID:12885411 RGD:1580791 NCBI chr10:90,250,275...90,265,772
Ensembl chr10:90,250,275...90,265,017
JBrowse link
G Ucp2 uncoupling protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:25703824 NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
JBrowse link
G Vldlr very low density lipoprotein receptor IEP associated with Hypertension; mRNA:decreased expression:heart ventricle RGD PMID:8603509 RGD:1625579 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
JBrowse link
G Yy1 YY1 transcription factor IDA RGD PMID:15567155 RGD:1580832 NCBI chr 6:132,702,443...132,726,848
Ensembl chr 6:132,702,448...132,727,046
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: Carvajal syndrome
ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy dilated with woolly hair and keratoderma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:605676
ClinVar Annotator: match by term: Dilated cardiomyopathy, woolly hair, keratoderma
OMIM
ClinVar
CTD
PMID:8769422, PMID:10594734, PMID:11063735, PMID:11841538, PMID:15210133, PMID:15941723, PMID:16061754, PMID:16175511, PMID:16467215, PMID:16628197, PMID:16774985, PMID:16917092, PMID:18382419, PMID:18632414, PMID:19095136, PMID:19279339, PMID:19558499, PMID:19863551, PMID:19924139, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20400443, PMID:20435227, PMID:20525856, PMID:20716751, PMID:20829228, PMID:20864495, PMID:21062920, PMID:21193976, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21756917, PMID:21859740, PMID:22214898, PMID:22216297, PMID:22555271, PMID:22795705, PMID:22949226, PMID:23137101, PMID:23292937, PMID:23299917, PMID:23381804, PMID:23396983, PMID:23465283, PMID:23514727, PMID:23524727, PMID:23671136, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24440382, PMID:24448499, PMID:24503780, PMID:24704780, PMID:24825141, PMID:24967631, PMID:24981977, PMID:25157032, PMID:25163546, PMID:25196244, PMID:25225338, PMID:25227139, PMID:25344691, PMID:25351510, PMID:25447171, PMID:25516398, PMID:25525159, PMID:25550050, PMID:25569433, PMID:25616645, PMID:25637381, PMID:25661095, PMID:25676813, PMID:25691752, PMID:25693453, PMID:25741868, PMID:25765472, PMID:25820315, PMID:26073755, PMID:26138720, PMID:26148547, PMID:26187847, PMID:26220970, PMID:26230511, PMID:26314686, PMID:26332594, PMID:26383259, PMID:26399581, PMID:26406308, PMID:26498160, PMID:26569459, PMID:26585738, PMID:26604139, PMID:26656175, PMID:26688388, PMID:26735901, PMID:26743238, PMID:26833927, PMID:26850880, PMID:26899768, PMID:27097650, PMID:27153395, PMID:27194543, PMID:27329731, PMID:27435932, PMID:27532257, PMID:27698334, PMID:27707468, PMID:27831900, PMID:27884173, PMID:28074886, PMID:28087426, PMID:28152038, PMID:28254189, PMID:28255936, PMID:28301460, PMID:28341588, PMID:28416588, PMID:28442525, PMID:28471438, PMID:28473349, PMID:28492532, PMID:28527814, PMID:28588093, PMID:28611029, PMID:28759816, PMID:28798025, PMID:28912206, PMID:29062697, PMID:29247119, PMID:29253866, PMID:29420653, PMID:29511324, PMID:29750433, PMID:29759408, PMID:29892087, PMID:29915097, PMID:30165862, PMID:30311386, PMID:30382575, PMID:30820396, PMID:30919684, PMID:31333075, PMID:31568572 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:16253912, PMID:22581653, PMID:28492532 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar PMID:23040497, PMID:23388215, PMID:24563457, PMID:24816216, PMID:25557436, PMID:25741868, PMID:26164367, PMID:26309258, PMID:27165696, PMID:28492532 NCBI chr 6:124,217,241...124,225,292
Ensembl chr 6:124,217,241...124,225,292
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by OMIM:604772
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19398665, PMID:21618644, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:204,512,361...204,568,643
Ensembl chr 2:204,512,302...204,568,656
JBrowse link
G Dmpk DM1 protein kinase ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 1:79,988,096...79,999,358
Ensembl chr 1:79,989,019...79,999,364
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:17105751, PMID:18678517, PMID:19039334, PMID:20031616, PMID:20031617, PMID:20716751, PMID:20864495, PMID:21606390, PMID:23810883, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25741868, PMID:28492532 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:28492532 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
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 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:12376891, PMID:12467752, PMID:14597414, PMID:15372542, PMID:17107595, PMID:19524666, PMID:23861362, PMID:23977161, PMID:24033266, PMID:24623722, PMID:24794538, PMID:25448463, PMID:25741868, PMID:28492532, PMID:28531892 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
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 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
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, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by OMIM:604772
OMIM
ClinVar
PMID:1572740, PMID:8589694, PMID:11157710, PMID:11159936, PMID:11208676, PMID:12093772, PMID:12837242, PMID:12919952, PMID:14571276, PMID:15197150, PMID:15466642, PMID:15721128, PMID:15749201, PMID:15890976, PMID:16188589, PMID:16239587, PMID:16272262, PMID:16436635, PMID:16769042, PMID:16843546, PMID:16873551, PMID:17558603, PMID:17875969, PMID:17984046, PMID:18092949, PMID:18326664, PMID:18483626, PMID:18752142, PMID:19216760, PMID:19226252, PMID:19345240, PMID:19362677, PMID:19398665, PMID:19597050, PMID:19709828, PMID:19926015, PMID:20106799, PMID:20157052, PMID:20851825, PMID:21315846, PMID:21454795, PMID:21616285, PMID:21659649, PMID:21768539, PMID:21964171, PMID:22221940, PMID:22222782, PMID:22374134, PMID:22396703, PMID:22515980, PMID:22677073, PMID:22787013, PMID:23022705, PMID:23204524, PMID:23286974, PMID:23396983, PMID:23595086, PMID:23820649, PMID:23861362, PMID:24025405, PMID:24033266, PMID:24055113, PMID:24136861, PMID:24447446, PMID:24503780, PMID:24558114, PMID:24631775, PMID:24978818, PMID:24981977, PMID:25041964, PMID:25092222, PMID:25163546, PMID:25194972, PMID:25351510, PMID:25467552, PMID:25637381, PMID:25650408, PMID:25713214, PMID:25741868, PMID:25844899, PMID:25925909, PMID:26018045, PMID:26114861, PMID:26189708, PMID:26272908, PMID:26332594, PMID:26498160, PMID:26633542, PMID:26656175, PMID:26899768, PMID:27054166, PMID:27153395, PMID:27194543, PMID:27229459, PMID:27231019, PMID:27353043, PMID:27435932, PMID:27452199, PMID:27482086, PMID:27532257, PMID:27538377, PMID:27727376, PMID:27756708, PMID:27930701, PMID:28100344, PMID:28125075, PMID:28237968, PMID:28256248, PMID:28404607, PMID:28492532, PMID:28567303, PMID:28620067, PMID:29247119, PMID:29396286, PMID:29453246, PMID:29511324, PMID:30086531, PMID:30311386, PMID:30403697 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:15840476, PMID:19841300, PMID:20129283, PMID:22581653, PMID:23805106, PMID:24033266, PMID:25351510, PMID:25741868, PMID:25904541, PMID:28492532 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
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 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
G Trdn triadin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:25,403,390...25,787,664
Ensembl chr 1:25,403,390...25,839,345
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 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
JBrowse link
Congenital Heart Defects, Multiple Types, 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7 OMIM
ClinVar
PMID:28991257, PMID:30232381 NCBI chr10:35,078,782...35,120,296
Ensembl chr10:35,078,726...35,121,599
JBrowse link
dilated cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:30311386 NCBI chr 9:17,869,301...17,881,762
Ensembl chr 9:17,869,124...17,880,706
JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:11439001, PMID:16086317, PMID:22209248, PMID:24088041, PMID:26633545, PMID:30311386 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
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 PMID:12166651, PMID:20474083, PMID:24033266, PMID:25741868, PMID:28492532, PMID:15034580 RGD:1300328 NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
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 7:80,792,615...80,796,683
Ensembl chr 7:80,792,600...80,796,670
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:21932095, PMID:25087612, PMID:25741868, PMID:26385305, PMID:28468868, PMID:28492532 NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
JBrowse link
G Ace angiotensin I converting enzyme no_association ISO DNA:insertion/deletion:intron RGD PMID:9270088 RGD:1566491 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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
PMID:10966831, PMID:12860912, PMID:14729850, PMID:15058760, PMID:16267253, PMID:16611632, PMID:17611253, PMID:17623677, PMID:17916152, PMID:17947298, PMID:18379140, PMID:18400036, PMID:18506004, PMID:18519860, PMID:18801786, PMID:19184181, PMID:19467449, PMID:19799913, PMID:20497191, PMID:20965760, PMID:21297463, PMID:21524215, PMID:21551322, PMID:21622575, PMID:22464770, PMID:24033266, PMID:24461919, PMID:24736382, PMID:25201647, PMID:25741868, PMID:27139165, PMID:28492532, PMID:9563954 RGD:1559158 NCBI chr 3:105,507,403...105,512,939
Ensembl chr 3:105,507,403...105,512,939
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, PMID:24033266, PMID:24503780, PMID:25224718, PMID:25741868, PMID:26899768, PMID:27287556, PMID:27896284, PMID:28492532 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Adrb1 adrenoceptor beta 1 IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:9554809, PMID:18287209 RGD:5129132 NCBI chr 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985
JBrowse link
G Adrb2 adrenoceptor beta 2 IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:11986409, PMID:18287209 RGD:5129132 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
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 chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr1a angiotensin II receptor, type 1a treatment IMP
IEP
RGD PMID:20886512, PMID:22120037 RGD:5129198, RGD:8549486 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
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 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447358 NCBI chr 4:117,371,544...117,472,310
Ensembl chr 4:117,371,659...117,472,198
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, PMID:30311386 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
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: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar PMID:18273862, PMID:19525294, PMID:19608030, PMID:19608031, PMID:22337857, PMID:22388920, PMID:22892539, PMID:23299917, PMID:23572067, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25089522, PMID:25741868, PMID:27143260, PMID:27532257, PMID:28492532, PMID:28672880, PMID:28794111, PMID:29447731, PMID:19525294 RGD:5133277 NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
JBrowse link
G Ankrd37 ankyrin repeat domain 37 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:49,463,016...49,465,905
Ensembl chr16:49,462,889...49,465,888
JBrowse link
G Ap3m1 adaptor related protein complex 3 subunit mu 1 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar NCBI chr15:3,435,998...3,454,281
Ensembl chr15:3,436,361...3,454,279
JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Familial dilated cardiomyopathy ClinVar PMID:14732481, PMID:21408211, PMID:24033266, PMID:25741868, PMID:26332594, PMID:26467025, PMID:27153395, PMID:28008009, PMID:28492532, PMID:30270084 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoe apolipoprotein E susceptibility ISO RGD PMID:16714771 RGD:1601240 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24358288 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Axin2 axin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr10:97,212,483...97,238,824
Ensembl chr10:97,212,432...97,239,642
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:2159883, PMID:21353195, PMID:21459883, PMID:21898660, PMID:22337857, PMID:23861362, PMID:24033266, PMID:24558114, PMID:24623017, PMID:25008357, PMID:25448463, PMID:25728519, PMID:25741868, PMID:25925243, PMID:26467025, PMID:27042682, PMID:27896284, PMID:28436997, PMID:28492532, PMID:28737513, PMID:28798025, PMID:30012837, PMID:31333075, PMID:31568572 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:23980359, PMID:26004897 RGD:10054117, RGD:13782348 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP RGD PMID:26004897 RGD:13782348 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l1 Bcl2-like 1 IEP RGD PMID:26004897 RGD:13782348 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
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 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 susceptibility ISO DNA:SNPs:introns: RGD PMID:29495422 RGD:13515053 NCBI chr 3:37,950,846...38,211,478
Ensembl chr 3:37,955,069...38,090,526
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 1:64,330,106...64,350,338
Ensembl chr 1:64,330,106...64,350,338
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 chr16:19,097,391...19,124,062
Ensembl chr16:19,097,391...19,124,062
JBrowse link
G Cap2 cyclase associated actin cytoskeleton regulatory protein 2 ISS MouseDO NCBI chr17:18,441,614...18,592,866
Ensembl chr17:18,442,127...18,592,750
JBrowse link
G Casp3 caspase 3 IEP RGD PMID:26004897 RGD:13782348 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp8 caspase 8 IEP RGD PMID:26004897 RGD:13782348 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Casp9 caspase 9 IEP RGD PMID:26004897 RGD:13782348 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:20530761, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532 NCBI chr 2:204,512,361...204,568,643
Ensembl chr 2:204,512,302...204,568,656
JBrowse link
G Cat catalase ISO RGD PMID:10652196 RGD:1581150 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccdc110 coiled-coil domain containing 110 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:49,509,885...49,522,094
Ensembl chr16:49,509,876...49,522,341
Ensembl chr16:49,509,876...49,522,341
JBrowse link
G Cd27 CD27 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 4:157,744,881...157,751,609
Ensembl chr 4:157,744,882...157,750,088
JBrowse link
G Cd36 CD36 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:10981864 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:9495297 RGD:13702889 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd70 Cd70 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 9:9,842,585...9,845,728
Ensembl chr 9:9,842,585...9,845,728
JBrowse link
G Cenpf centromere protein F ISS MouseDO NCBI chr13:108,132,499...108,178,609
Ensembl chr13:108,132,499...108,178,609
JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:12610310, PMID:12639993, PMID:16235537, PMID:17655857, PMID:18056057, PMID:19139388, PMID:21167350, PMID:21282613, PMID:21332051, PMID:22137083, PMID:22427649, PMID:22707725, PMID:23308118, PMID:23861362, PMID:24033266, PMID:25593317, PMID:25611685, PMID:25741868, PMID:25928149, PMID:26535225, PMID:26917049, PMID:27532257, PMID:28492532, PMID:28600387 NCBI chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418
JBrowse link
G Cfap97 cilia and flagella associated protein 97 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:49,280,076...49,329,029
Ensembl chr16:49,280,084...49,318,383
JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:23408450, PMID:24033266, PMID:28492532 NCBI chr 4:64,089,028...64,091,090
Ensembl chr 4:64,088,900...64,091,090
JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Cox7a1 cytochrome c oxidase subunit 7A1 ISS MouseDO NCBI chr 1:88,619,619...88,650,672
Ensembl chr 1:91,071,493...91,074,294
Ensembl chr 1:91,071,493...91,074,294
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO RGD PMID:9616213 RGD:734815 NCBI chr 9:71,229,753...71,298,994
Ensembl chr 9:71,230,108...71,293,435
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 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
JBrowse link
G Crybb2 crystallin, beta B2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:30311386 NCBI chr12:49,577,580...49,588,555
Ensembl chr12:49,578,633...49,588,555
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17334414 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Csrnp1 cysteine and serine rich nuclear protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chr 8:128,659,883...128,673,339
Ensembl chr 8:128,659,868...128,672,284
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 PMID:9039266, PMID:12507422, PMID:14567970, PMID:15781201, PMID:16352453, PMID:17084280, PMID:18505755, PMID:20044516, PMID:20474083, PMID:23396983, PMID:23861362, PMID:24033266, PMID:25741868, PMID:26656175, PMID:28492532, PMID:12507422, PMID:9637704 RGD:734841, RGD:734837 NCBI chr 1:104,147,205...104,166,389
Ensembl chr 1:104,147,206...104,166,367
JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:11058912, PMID:24033266, PMID:25741868, PMID:27149842, PMID:28492532, PMID:11058912 RGD:1626410 NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
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 chr20:25,063,124...26,640,428
Ensembl chr20:26,516,836...26,589,209
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407, PMID:20376467 RGD:13524857 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Ctsl cathepsin L ISS MouseDO NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP mRNA:increased expression:left ventricle myocardium RGD PMID:20868517 RGD:5134996 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 IDA RGD PMID:15322218 RGD:1598502 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G Dag1 dystroglycan 1 ISS MouseDO NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
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 PMID:10717012, PMID:11073539, PMID:12620971, PMID:14724127, PMID:15800015, PMID:17221859, PMID:17325244, PMID:17439987, PMID:17720647, PMID:18061454, PMID:18653338, PMID:19151983, PMID:19587455, PMID:19716701, PMID:19763525, PMID:19879535, PMID:20171226, PMID:20423733, PMID:20448486, PMID:20474083, PMID:20696008, PMID:22106715, PMID:22153487, PMID:22215463, PMID:22275259, PMID:22403400, PMID:22484823, PMID:23155419, PMID:23349452, PMID:23815709, PMID:23861362, PMID:24033266, PMID:24088041, PMID:24503780, PMID:25394388, PMID:25557463, PMID:25590979, PMID:25741868, PMID:26467025, PMID:26633545, PMID:27393313, PMID:27532257, PMID:27854218, PMID:28492532, PMID:29247119, PMID:28171858, PMID:29556622, PMID:10591032 RGD:13592594, RGD:13542087, RGD:13525010 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dicer1 dicer 1 ribonuclease III ISS MouseDO NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
JBrowse link
G Dmd dystrophin severity ISO
IMP
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Dilated
mRNA, protein:decreased expression:myocardium
ClinVar
CTD
PMID:7599634, PMID:7849724, PMID:11496434, PMID:11710958, PMID:12359139, PMID:19409785, PMID:19760747, PMID:19937601, PMID:21396098, PMID:21969337, PMID:23299917, PMID:23352160, PMID:23871722, PMID:24033266, PMID:24055113, PMID:25007885, PMID:25637381, PMID:25741868, PMID:26467025, PMID:26743743, PMID:26990548, PMID:28492532, PMID:30311386, PMID:30415094, PMID:12359139, PMID:19194174, PMID:25310701, PMID:20373002 RGD:1580858, RGD:13702900, RGD:12880034, RGD:6771365 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
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 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr  X:156,429,521...156,438,066
Ensembl chr  X:156,429,585...156,438,066
JBrowse link
G Dnm1l dynamin 1-like ISS MouseDO NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated ClinVar NCBI chr 4:4,021,021...4,943,675
Ensembl chr 4:4,021,008...4,473,307
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 chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Dsg2 desmoglein 2 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 Annotator: match by term: Familial dilated cardiomyopathy
ClinVar PMID:17105751, PMID:18382419, PMID:18639457, PMID:18678517, PMID:19039334, PMID:19569224, PMID:20031616, PMID:20603720, PMID:20716751, PMID:20857253, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:23178689, PMID:23299917, PMID:23671136, PMID:23861362, PMID:23889974, PMID:24033266, PMID:24055113, PMID:24082139, PMID:24503780, PMID:24704780, PMID:25332820, PMID:25445213, PMID:25637381, PMID:25741868, PMID:25820315, PMID:26230511, PMID:27114410, PMID:27532257, PMID:28492532, PMID:28600387, PMID:30311386 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: Congestive cardiomyopathy
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: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar PMID:10594734, PMID:11063735, PMID:16061754, PMID:16467215, PMID:16774985, PMID:16917092, PMID:18382419, PMID:19095136, PMID:19279339, PMID:19558499, PMID:20435227, PMID:20716751, PMID:20829228, PMID:20864495, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21859740, PMID:23292937, PMID:23299917, PMID:23396983, PMID:23810894, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24503780, PMID:25227139, PMID:25616645, PMID:25637381, PMID:25661095, PMID:25676813, PMID:25741868, PMID:26230511, PMID:26399581, PMID:26656175, PMID:26850880, PMID:27097650, PMID:27153395, PMID:27532257, PMID:28074886, PMID:28416588, PMID:28492532, PMID:28527814, PMID:28588093, PMID:28759816, PMID:30311386, PMID:31333075, PMID:31568572, PMID:11063735 RGD:1580891 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
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 chr18:14,544,725...14,671,514
Ensembl chr18:14,471,213...14,657,332
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO RGD PMID:11145756 RGD:1580911 NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
JBrowse link
G Edn1 endothelin 1 severity ISO protein:increased expression:aorta, plasma (human) RGD PMID:10026353 RGD:8661756 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Egfr epidermal growth factor receptor IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:18599591, PMID:22646904 RGD:7204501 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Egln1 egl-9 family hypoxia-inducible factor 1 ISO RGD PMID:18096761 RGD:11251770 NCBI chr19:57,660,194...57,701,158
Ensembl chr19:57,662,278...57,699,113
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
DNA:deletion:cds:c.26_39delATACCGAGCTGACC(human)
ClinVar PMID:25741868, PMID:24997722 RGD:13592595 NCBI chr  X:156,452,847...156,455,858
Ensembl chr  X:156,452,818...156,456,035
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO
ISS
MouseDO PMID:12072561 RGD:734939 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
JBrowse link
G Esrrb estrogen-related receptor beta ISS MouseDO NCBI chr 6:110,360,940...110,458,406
Ensembl chr 6:110,410,141...110,455,906
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 PMID:10769282, PMID:15735644, PMID:17567890, PMID:24033266, PMID:15735644 RGD:1598455 NCBI chr 1:23,237,617...23,611,580
Ensembl chr 1:23,409,408...23,610,164
JBrowse link
G Fas Fas cell surface death receptor IEP
ISO
protein:increased expression:cardiocyte
CTD Direct Evidence: marker/mechanism
CTD PMID:17943461, PMID:16761189 RGD:1600334 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:17943461 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr10:109,987,735...110,005,901
Ensembl chr10:109,987,735...110,005,901
JBrowse link
G Fhl2 four and a half LIM domains 2 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:17416352, PMID:24033266, PMID:25358972, PMID:25741868, PMID:26627873, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr 9:49,920,611...49,994,906
Ensembl chr 9:49,920,854...49,950,093
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 PMID:25741868, PMID:15833432 RGD:11667064 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive ClinVar PMID:17597323, PMID:28492532 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:21520333, PMID:25741868, PMID:26436962, PMID:28492532, PMID:30311386, PMID:30411535 NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
JBrowse link
G Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:25741868, PMID:28492532 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
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, PMID:28492532 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Familial dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO RGD PMID:12619876 RGD:1582667 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gnaq G protein subunit alpha q ISO
ISS
MouseDO PMID:9811897 RGD:1598475 NCBI chr 1:233,382,778...233,622,584
Ensembl chr 1:233,382,708...233,622,786
JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr11:86,575,229...86,655,614
Ensembl chr11:86,577,339...86,655,602
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated ClinVar NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
JBrowse link
G Gpx1 glutathione peroxidase 1 susceptibility ISO DNA:polymorphism: :p.P198L (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18940188, PMID:18940188 RGD:2306616 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:28701297 NCBI chr 1:82,097,244...82,108,238
Ensembl chr 1:82,097,247...82,108,203
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 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Hfe homeostatic iron regulator susceptibility ISO RGD PMID:11040018 RGD:1582687 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hp haptoglobin ISO protein:increased expression RGD PMID:16360363 RGD:1626345 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:11934830 RGD:1598419 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il10 interleukin 10 IEP mRNA:decreased expression:heart left ventricle RGD PMID:19242323 RGD:2311057 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO protein:increased expression:myocardium RGD PMID:18362439 RGD:2298568 NCBI chr  X:118,443,955...118,514,716
Ensembl chr  X:118,443,823...118,513,061
JBrowse link
G Ilk integrin-linked kinase ISO
ISS
ClinVar Annotator: match by term: Cardiomyopathy, Dilated ClinVar
MouseDO
NCBI chr 1:170,578,941...170,585,192
Ensembl chr 1:170,578,889...170,585,189
JBrowse link
G Irf4 interferon regulatory factor 4 ISO protein:decreased expression:heart RGD PMID:23589561 RGD:11530060 NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
JBrowse link
G Itgb1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11884376 NCBI chr19:61,677,512...61,725,537
Ensembl chr19:61,677,542...61,725,535
JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO RGD PMID:12496958 RGD:1582491 NCBI chr  X:71,342,770...71,347,623
Ensembl chr  X:71,342,775...71,347,619
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 no_association ISO RGD PMID:8567977 RGD:1556475 NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
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 PMID:25741868, PMID:28492532, PMID:15541368 RGD:1580652 NCBI chr 3:159,709,998...159,776,536
Ensembl chr 3:159,712,325...159,775,643
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: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar PMID:21859740, PMID:23861362, PMID:24033266, PMID:25741868, PMID:27532257, PMID:27662471, PMID:28492532, PMID:28831623, PMID:30311386 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
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 2:207,923,775...208,140,727
Ensembl chr 2:207,923,775...208,140,727
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 chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar NCBI chr11:32,434,786...32,447,264
Ensembl chr11:32,440,237...32,447,259
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, PMID:28492532 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
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 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO RGD PMID:15864294 RGD:1581757 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
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, PMID:31333075, PMID:31568572 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:24033266, PMID:28492532 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044
JBrowse link
G Lck LCK proto-oncogene, Src family tyrosine kinase ISO RGD PMID:17711737 RGD:2316557 NCBI chr 5:147,750,976...147,779,627
Ensembl chr 5:147,750,973...147,761,983
JBrowse link
G Ldb3 LIM domain binding 3 no_association ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
DNA:missense mutation: :p.D626N (human)
DNA:missense mutation: :p.D117N (human)
DNA:missense mutation:exon:p.S196L (human)
ClinVar PMID:14662268, PMID:15668942, PMID:17235623, PMID:17438622, PMID:19412328, PMID:20474083, PMID:20590677, PMID:22337857, PMID:22929165, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25041374, PMID:25326637, PMID:25616123, PMID:25741868, PMID:26419279, PMID:26467025, PMID:27884173, PMID:27896284, PMID:28349680, PMID:28492532, PMID:31333075, PMID:31568572, PMID:14660611, PMID:26419279, PMID:20852297 RGD:1580827, RGD:11527732, RGD:11098950 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO RGD PMID:16738313 RGD:11252001 NCBI chr 2:236,232,115...236,345,061
Ensembl chr 2:236,233,239...236,345,056
JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphism: :p.Q223R (human) RGD PMID:19337797 RGD:2311129 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
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: Dilated cardiomyopathy
ClinVar Annotator: match by term: Congestive cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
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
PMID:2280636, PMID:2526018, PMID:8621584, PMID:10080180, PMID:10441578, PMID:10580070, PMID:10587585, PMID:10612827, PMID:10662742, PMID:10739751, PMID:10814726, PMID:10908904, PMID:10939567, PMID:11102526, PMID:11102973, PMID:11138304, PMID:11180602, PMID:11342468, PMID:11561226, PMID:11792809, PMID:11792810, PMID:11799477, PMID:11897440, PMID:12015247, PMID:12032588, PMID:12376891, PMID:12467752, PMID:12628721, PMID:12673789, PMID:12702809, PMID:12714972, PMID:12768443, PMID:12783988, PMID:12788894, PMID:12920062, PMID:12927431, PMID:14597414, PMID:14607793, PMID:14675861, PMID:14684700, PMID:15032975, PMID:15053843, PMID:15060110, PMID:15140538, PMID:15148145, PMID:15184648, PMID:15205219, PMID:15219508, PMID:15317753, PMID:15342704, PMID:15372542, PMID:15475483, PMID:15668447, PMID:15688064, PMID:15724423, PMID:15770669, PMID:15793835, PMID:15843403, PMID:15972724, PMID:15982412, PMID:15996213, PMID:15998779, PMID:16061563, PMID:16126733, PMID:16156025, PMID:16266469, PMID:16278265, PMID:16386954, PMID:16407522, PMID:16537768, PMID:16585054, PMID:16630578, PMID:16715312, PMID:16738054, PMID:16809772, PMID:16816143, PMID:16838330, PMID:16965317, PMID:16990647, PMID:17076270, PMID:17107595, PMID:17139325, PMID:17250669, PMID:17334235, PMID:17377071, PMID:17386158, PMID:17459035, PMID:17469202, PMID:17599607, PMID:17987279, PMID:18031519, PMID:18035086, PMID:18182166, PMID:18256394, PMID:18337098, PMID:18414213, PMID:18478590, PMID:18549403, PMID:18551513, PMID:18564364, PMID:18585512, PMID:18606848, PMID:18611980, PMID:18646565, PMID:18714801, PMID:18795223, PMID:18816602, PMID:18926329, PMID:19167105, PMID:19172989, PMID:19283854, PMID:19318026, PMID:19328042, PMID:19424285, PMID:19427440, PMID:19524666, PMID:19589617, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19842191, PMID:19875404, PMID:19882644, PMID:20019332, PMID:20074070, PMID:20127487, PMID:20155465, PMID:20160190, PMID:20307303, PMID:20497714, PMID:20576434, PMID:20627339, PMID:20662858, PMID:20848652, PMID:21085127, PMID:21151901, PMID:21173262, PMID:21315846, PMID:21483645, PMID:21632249, PMID:21689390, PMID:21831885, PMID:21840938, PMID:21846512, PMID:21875900, PMID:21980471, PMID:22071332, PMID:22103508, PMID:22148005, PMID:22177269, PMID:22186027, PMID:22199124, PMID:22224630, PMID:22266370, PMID:22276265, PMID:22326558, PMID:22355414, PMID:22464770, PMID:22526018, PMID:22570643, PMID:22611635, PMID:22685055, PMID:22893709, PMID:22918509, PMID:23062543, PMID:23071165, PMID:23141186, PMID:23142632, PMID:23183350, PMID:23349452, PMID:23360689, PMID:23362510, PMID:23427149, PMID:23582089, PMID:23644458, PMID:23701190, PMID:23702046, PMID:23804595, PMID:23853504, PMID:23861362, PMID:23969228, PMID:23977161, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24058181, PMID:24237251, PMID:24305605, PMID:24375749, PMID:24386194, PMID:24503780, PMID:24623722, PMID:24721642, PMID:24794538, PMID:24846508, PMID:24915601, PMID:25025039, PMID:25214167, PMID:25448463, PMID:25469153, PMID:25525159, PMID:25567453, PMID:25637381, PMID:25741868, PMID:25873806, PMID:25946677, PMID:26084686, PMID:26332594, PMID:26383716, PMID:26404900, PMID:26467025, PMID:26498160, PMID:26602028, PMID:26899768, PMID:27000522, PMID:27153395, PMID:27373676, PMID:27374873, PMID:27421120, PMID:27447704, PMID:27506821, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27884249, PMID:27886618, PMID:27896052, PMID:27896284, PMID:27919367, PMID:28074886, PMID:28087566, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28518168, PMID:28531892, PMID:28663758, PMID:28679633, PMID:28701371, PMID:28785654, PMID:28790152, PMID:28798025, PMID:28807990, PMID:28874324, PMID:28878402, PMID:29095976, PMID:29149195, PMID:29237675, PMID:29237690, PMID:29382405, PMID:29432544, PMID:29693488, PMID:29791652, PMID:29943882, PMID:29952368, PMID:29970176, PMID:30007954, PMID:30165862, PMID:30311386, PMID:30402260, PMID:30420677, PMID:30765282, PMID:17446932, PMID:22224630, PMID:12628721, PMID:18182166, PMID:18926329 RGD:2306094, RGD:11073137, RGD:1580515, RGD:2306092, RGD:2306091 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Lmod2 leiomodin 2 ISS MouseDO NCBI chr 4:51,553,439...51,561,135
Ensembl chr 4:51,553,454...51,561,174
JBrowse link
G LOC100910779 ATP-dependent zinc metalloprotease YME1L1-like ISS MouseDO NCBI chr17:89,701,899...89,741,953 JBrowse link
G LOC102548901 protein Bop-like ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr12:6,230,524...6,231,398 JBrowse link
G Lrp2bp Lrp2 binding protein ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:49,437,373...49,463,100
Ensembl chr16:49,437,379...49,453,394
JBrowse link
G Lrrc10 leucine-rich repeat-containing 10 ISO
ISS
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar
MouseDO
PMID:28492532 NCBI chr 7:60,087,361...60,088,758
Ensembl chr 7:60,087,429...60,088,250
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:30311386 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Map2k5 mitogen activated protein kinase kinase 5 ISO RGD PMID:11387209 RGD:1580866 NCBI chr 8:68,055,976...68,282,656
Ensembl chr 8:68,055,972...68,282,590
JBrowse link
G Mas1 MAS1 proto-oncogene, G protein-coupled receptor treatment IEP RGD PMID:22120037 RGD:8549486 NCBI chr 1:48,076,761...48,108,218
Ensembl chr 1:48,077,033...48,108,216
JBrowse link
G Mdm4 MDM4 regulator of p53 ISS MouseDO NCBI chr13:49,786,776...49,828,780
Ensembl chr13:49,792,794...49,828,720
JBrowse link
G Med1 mediator complex subunit 1 ISO
ISS
MouseDO PMID:27548259 RGD:13513972 NCBI chr10:86,101,560...86,145,271
Ensembl chr10:86,103,600...86,144,880
JBrowse link
G Mef2a myocyte enhancer factor 2a ISO RGD PMID:16469744 RGD:1580546 NCBI chr 1:128,207,715...128,341,681
Ensembl chr 1:128,209,971...128,341,263
JBrowse link
G Mef2c myocyte enhancer factor 2C ISO RGD PMID:16469744 RGD:1580546 NCBI chr 2:11,658,534...11,822,788
Ensembl chr 2:11,658,568...11,822,787
JBrowse link
G Mfn1 mitofusin 1 ISO with Mfn2 knockout RGD PMID:22052916 RGD:11251967 NCBI chr 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698
JBrowse link
G Mfn2 mitofusin 2 ISO with Mfn1 knockout RGD PMID:22052916 RGD:11251967 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
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 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO RGD PMID:16037568 RGD:1582576 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO RGD PMID:16037568 RGD:1582576 NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:16037568 RGD:1582576 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mrgprd MAS related GPR family member D ISS MouseDO NCBI chr 1:218,481,146...218,491,910
Ensembl chr 1:218,487,824...218,488,783
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: 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: 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 4:63,012,009...63,039,422
Ensembl chr 4:63,012,011...63,039,422
JBrowse link
G Mybpc3 myosin binding protein C3 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 Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
ClinVar PMID:2073894, PMID:9048664, PMID:9562578, PMID:9631872, PMID:10521296, PMID:10610770, PMID:11499718, PMID:11815426, PMID:12110947, PMID:12117842, PMID:12386147, PMID:12566107, PMID:12628722, PMID:12707239, PMID:12818575, PMID:12951062, PMID:12974739, PMID:14563344, PMID:15010274, PMID:15114369, PMID:15115610, PMID:15166115, PMID:15519027, PMID:16004897, PMID:16181148, PMID:16199542, PMID:16651346, PMID:16831826, PMID:16858239, PMID:17081393, PMID:17560888, PMID:18403758, PMID:18409188, PMID:18414213, PMID:18533079, PMID:18761664, PMID:18809796, PMID:18929575, PMID:18957093, PMID:19035361, PMID:19150014, PMID:19293840, PMID:19574547, PMID:20031602, PMID:20031618, PMID:20045868, PMID:20215591, PMID:20378854, PMID:20433692, PMID:20435227, PMID:20474083, PMID:20624503, PMID:20738943, PMID:20800588, PMID:20818890, PMID:21239446, PMID:21302287, PMID:21310275, PMID:21472310, PMID:21511876, PMID:21750094, PMID:21835320, PMID:21839045, PMID:22057632, PMID:22122802, PMID:22194935, PMID:22267749, PMID:22361390, PMID:22386539, PMID:22464770, PMID:22563033, PMID:22589294, PMID:22763267, PMID:22765922, PMID:22857948, PMID:22907696, PMID:22958901, PMID:23054336, PMID:23197398, PMID:23233322, PMID:23283745, PMID:23299917, PMID:23396983, PMID:23418287, PMID:23549607, PMID:23642604, PMID:23690394, PMID:23782526, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24093860, PMID:24111713, PMID:24119082, PMID:24447051, PMID:24503780, PMID:24510615, PMID:24621997, PMID:24774285, PMID:24793961, PMID:24810389, PMID:24865491, PMID:25031304, PMID:25058872, PMID:25078086, PMID:25086479, PMID:25163546, PMID:25342278, PMID:25351510, PMID:25377941, PMID:25447171, PMID:25524337, PMID:25569433, PMID:25611685, PMID:25637381, PMID:25740977, PMID:25741868, PMID:26090888, PMID:26178432, PMID:26332198, PMID:26332594, PMID:26458567, PMID:26467025, PMID:26822237, PMID:26914223, PMID:27153395, PMID:27194543, PMID:27418595, PMID:27435932, PMID:27483260, PMID:27532257, PMID:27561770, PMID:27576561, PMID:27600940, PMID:27650965, PMID:27896284, PMID:28214152, PMID:28323875, PMID:28356264, PMID:28420666, PMID:28492532, PMID:28498465, PMID:28518168, PMID:28538763, PMID:28615295, PMID:28679633, PMID:28771489, PMID:28807990, PMID:28971120, PMID:29030401, PMID:29121657, PMID:29367541, PMID:29875424 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Myh6 myosin heavy chain 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
CTD
ClinVar
PMID:15998695, PMID:20215591, PMID:20656787, PMID:21483645, PMID:22011241, PMID:22194935, PMID:22361390, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24082139, PMID:24119082, PMID:25741868, PMID:27194543, PMID:27789736, PMID:28088328, PMID:28416588, PMID:28492532 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
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
PMID:2136805, PMID:2753225, PMID:3203908, PMID:7581410, PMID:7883988, PMID:7909436, PMID:8614836, PMID:8981935, PMID:9884344, PMID:10521296, PMID:10900182, PMID:11106718, PMID:11186938, PMID:11447480, PMID:11986409, PMID:12379228, PMID:12951062, PMID:15322983, PMID:15358028, PMID:15556047, PMID:15769782, PMID:15858117, PMID:16754800, PMID:16858239, PMID:16983074, PMID:17125710, PMID:17192269, PMID:17351073, PMID:17372140, PMID:17947214, PMID:18029407, PMID:18258667, PMID:18414213, PMID:18506004, PMID:18519860, PMID:18555187, PMID:18660445, PMID:19293840, PMID:19412328, PMID:19477645, PMID:19808347, PMID:19854198, PMID:19864899, PMID:19880069, PMID:20031602, PMID:20031618, PMID:20031619, PMID:20474083, PMID:20530761, PMID:20573160, PMID:20624503, PMID:20733148, PMID:20800588, PMID:20965760, PMID:21211974, PMID:21302287, PMID:21310275, PMID:21482996, PMID:21499742, PMID:21511876, PMID:21750094, PMID:21839045, PMID:21943931, PMID:22155079, PMID:22337857, PMID:22464770, PMID:22763267, PMID:22857948, PMID:22918376, PMID:22949430, PMID:22958901, PMID:23054336, PMID:23153285, PMID:23233322, PMID:23281406, PMID:23283745, PMID:23299917, PMID:23313350, PMID:23349452, PMID:23396983, PMID:23403236, PMID:23426552, PMID:23707328, PMID:23861362, PMID:24033266, PMID:24047955, PMID:24093860, PMID:24111713, PMID:24119082, PMID:24503780, PMID:24664454, PMID:24691700, PMID:24721642, PMID:24793961, PMID:25031304, PMID:25125180, PMID:25163446, PMID:25163546, PMID:25326635, PMID:25342278, PMID:25351510, PMID:25448463, PMID:25524337, PMID:25576864, PMID:25637381, PMID:25649125, PMID:25666907, PMID:25741868, PMID:25937279, PMID:25961035, PMID:26025024, PMID:26220970, PMID:26383716, PMID:26467025, PMID:26497160, PMID:26688388, PMID:26743238, PMID:26969327, PMID:27153395, PMID:27247418, PMID:27387980, PMID:27532257, PMID:27576561, PMID:27600940, PMID:27737317, PMID:27831900, PMID:27854218, PMID:28045975, PMID:28138913, PMID:28193612, PMID:28265379, PMID:28416588, PMID:28420666, PMID:28492532, PMID:28588093, PMID:28615295, PMID:28750076, PMID:28771251, PMID:28790153, PMID:28798025, PMID:28855170, PMID:29093449, PMID:29212898, PMID:29300372, PMID:29447731, PMID:29666183, PMID:29773157, PMID:29867217, PMID:31333075, PMID:31568572, PMID:11106718 RGD:1556469 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:18533079, PMID:20173211, PMID:21310275, PMID:22958901, PMID:23299917, PMID:23343568, PMID:23396983, PMID:24033266, PMID:24055113, PMID:24111713, PMID:25524337, PMID:25637381, PMID:25741868, PMID:27483260, PMID:27532257, PMID:27600940, PMID:28492532, PMID:28771489, PMID:28855170, PMID:30403391 NCBI chr12:39,951,863...39,959,065
Ensembl chr12:39,951,987...39,958,239
JBrowse link
G Myocd myocardin ISS MouseDO NCBI chr10:51,682,053...51,781,458
Ensembl chr10:51,683,540...51,778,986
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24033266, PMID:28492532 NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
JBrowse link
G Myot myotilin ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:12428213, PMID:16380616, PMID:19563540, PMID:22349301, PMID:26842778, PMID:30311386 NCBI chr18:35,573,978...35,593,541
Ensembl chr18:35,574,002...35,593,541
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, Dominant
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar PMID:18006477, PMID:20801532, PMID:22286171, PMID:23299917, PMID:23861362, PMID:24033266, PMID:25741868, PMID:26498160, PMID:26899768, PMID:27884173, PMID:27896284, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
JBrowse link
G Myzap myocardial zonula adherens protein ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 8:78,009,019...78,096,409
Ensembl chr 8:77,985,190...78,096,390
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated ClinVar PMID:20159436 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
JBrowse link
G Ncoa6 nuclear receptor coactivator 6 ISS MouseDO NCBI chr 3:150,919,317...150,990,391
Ensembl chr 3:150,919,317...150,960,030
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 PMID:20951326, PMID:23632046, PMID:24033266, PMID:25741868, PMID:27186169, PMID:28492532, PMID:29247119, PMID:29915097, PMID:11140941 RGD:1581084 NCBI chr17:84,141,014...84,247,038
Ensembl chr17:84,140,489...84,488,601
JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:28701297 NCBI chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720
JBrowse link
G Nexn nexilin (F actin binding protein) 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 Annotator: match by term: Familial dilated cardiomyopathy
ClinVar PMID:19881492, PMID:20970104, PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr 2:257,452,937...257,484,607
Ensembl chr 2:257,453,347...257,484,587
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 chr15:34,493,163...34,502,238
Ensembl chr15:34,493,138...34,504,326
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 chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11986409, PMID:16762803 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Nppb natriuretic peptide B ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:16762803, PMID:18628775, PMID:18068619 RGD:2324684 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISS MouseDO NCBI chr 1:131,447,671...131,465,749
Ensembl chr 1:131,448,447...131,460,473
JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21321305 NCBI chr19:34,408,275...34,761,003
Ensembl chr19:34,448,289...34,752,695
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
JBrowse link
G Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO RGD PMID:15345656 RGD:1580779 NCBI chr10:45,353,185...45,483,570
Ensembl chr10:45,338,009...45,481,008
JBrowse link
G Pdcd1 programmed cell death 1 ISO
ISS
MouseDO PMID:14595408 RGD:9589058 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
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:28492532 NCBI chr16:49,543,140...49,574,362
Ensembl chr16:49,543,142...49,574,390
JBrowse link
G Pdlim5 PDZ and LIM domain 5 ISS MouseDO NCBI chr 2:247,815,214...247,989,198
Ensembl chr 2:247,818,243...247,988,462
JBrowse link
G Pgf placental growth factor ISO RGD PMID:21900081 RGD:6483574 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Phc1 polyhomeotic homolog 1 ISS MouseDO NCBI chr 4:155,093,947...155,118,838
Ensembl chr 4:155,093,949...155,116,154
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:30311386 NCBI chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar PMID:2163603, PMID:20400443, PMID:21378009, PMID:21636032, PMID:23861362, PMID:24033266, PMID:25650408, PMID:25676813, PMID:25741868, PMID:26743238, PMID:27066507, PMID:27930701, PMID:28166282, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Plekhm2 pleckstrin homology and RUN domain containing M2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive ClinVar PMID:28492532 NCBI chr 5:160,182,556...160,219,770
Ensembl chr 5:160,182,251...160,219,812
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, PMID:19139388, PMID:21167350, PMID:21282613, PMID:21332051, PMID:22137083, PMID:22427649, PMID:22707725, PMID:23308118, PMID:23861362, PMID:24033266, PMID:25593317, PMID:25611685, PMID:25741868, PMID:25928149, PMID:26535225, PMID:26917049, PMID:27532257, PMID:28492532, PMID:28600387 NCBI chr20:34,633,157...34,642,904
Ensembl chr20:34,633,157...34,642,904
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment IDA RGD PMID:19242323 RGD:2311057 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Ppp1ca protein phosphatase 1 catalytic subunit alpha ISO RGD PMID:12024026 RGD:737728 NCBI chr 1:219,439,953...219,443,570
Ensembl chr 1:219,439,953...219,443,570
JBrowse link
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 1:80,271,288...80,290,946
Ensembl chr 1:80,279,706...80,290,408
JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISS MouseDO NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
JBrowse link
G Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha ISO RGD PMID:15012912 RGD:1580709 NCBI chr14:100,311,224...100,360,879
Ensembl chr14:100,311,173...100,360,879
JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr 5:171,662,277...171,711,561
Ensembl chr 5:171,662,277...171,710,316
JBrowse link
G Prkca protein kinase C, alpha ISO RGD PMID:9918525 RGD:1581274 NCBI chr10:96,186,509...96,585,168
Ensembl chr10:96,191,133...96,584,947
JBrowse link
G Prkcb protein kinase C, beta ISO RGD PMID:9918525 RGD:1581274 NCBI chr 1:192,233,569...192,575,339
Ensembl chr 1:192,233,910...192,574,831
JBrowse link
G Prox1 prospero homeobox 1 ISS MouseDO NCBI chr13:108,382,536...108,444,107
Ensembl chr13:108,382,399...108,443,294
JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
CTD
ClinVar
PMID:11389157, PMID:17186461, PMID:28492532 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
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 chr13:98,513,600...98,539,347
Ensembl chr13:98,513,570...98,530,724
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISS MouseDO NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO
ISS
ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar
MouseDO
PMID:18759865, PMID:21934682, PMID:22923420, PMID:24033266, PMID:24803665, PMID:25500235, PMID:25612910, PMID:25741868, PMID:27153395, PMID:28051113, PMID:28492532, PMID:18316486 RGD:12743610 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Rab1a RAB1A, member RAS oncogene family ISS MouseDO NCBI chr14:104,475,082...104,500,176
Ensembl chr14:104,475,082...104,501,020
JBrowse link
G Rac1 Rac family small GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16155095 NCBI chr12:13,090,316...13,111,841
Ensembl chr12:13,090,172...13,111,873
JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22558107, PMID:24033266, PMID:24777450, PMID:25741868, PMID:28492532 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
JBrowse link
G Ranbp1 RAN binding protein 1 ISO protein:decreased expression:heart ventricle, cytoplasm (human) RGD PMID:25341891 RGD:9835001 NCBI chr11:86,890,585...86,898,818
Ensembl chr11:86,890,585...86,898,818
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
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:18585512, PMID:19712804, PMID:20590677, PMID:21483645, PMID:22004663, PMID:22466703, PMID:22561820, PMID:23861363, PMID:23886709, PMID:24033266, PMID:24503780, PMID:24584570, PMID:25351510, PMID:25637381, PMID:25741868, PMID:26084686, PMID:26458567, PMID:26604136, PMID:27496873, PMID:27896284, PMID:28492532, PMID:29029073, PMID:29247119, PMID:29650543, PMID:29895960, PMID:31333075, PMID:31568572 NCBI chr 1:274,391,932...274,589,816
Ensembl chr 1:274,391,932...274,589,816
JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO RGD PMID:10600520 RGD:1581297 NCBI chr14:59,657,738...59,865,427
Ensembl chr14:59,658,935...59,735,450
JBrowse link
G Renbp renin binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12612874 NCBI chr  X:156,854,490...156,863,548
Ensembl chr  X:156,854,594...156,863,528
JBrowse link
G RGD1564308 similar to LOC495042 protein ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:49,485,022...49,509,756
Ensembl chr16:49,485,256...49,509,767
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased activity:heart RGD PMID:16043946 RGD:1643022 NCBI chr10:73,824,200...73,865,503
Ensembl chr10:73,824,202...73,865,364
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:9220309 RGD:13702906 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Rxra retinoid X receptor alpha ISS MouseDO NCBI chr 3:6,272,560...6,295,354
Ensembl chr 3:6,211,789...6,295,908
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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 Annotator: match by term: Familial dilated cardiomyopathy
ClinVar PMID:19926015, PMID:23861362, PMID:24033266, PMID:25163546, PMID:25650408, PMID:25741868, PMID:26132555, PMID:27930701, PMID:28404607, PMID:28492532, PMID:29453246, PMID:31333075, PMID:31568572 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:serum RGD PMID:18068619 RGD:2324684 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar NCBI chr 8:49,419,003...49,431,110
Ensembl chr 8:49,418,965...49,427,689
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 8:49,441,106...49,456,279
Ensembl chr 8:49,441,106...49,456,279
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: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar PMID:9521325, PMID:10966831, PMID:11804990, PMID:11901046, PMID:12106943, PMID:14523039, PMID:15671429, PMID:15851227, PMID:15890323, PMID:16267253, PMID:16379539, PMID:16453024, PMID:16611632, PMID:16643399, PMID:16712702, PMID:17210839, PMID:17210841, PMID:17368591, PMID:17442746, PMID:18048769, PMID:18378609, PMID:19027780, PMID:19056759, PMID:19251209, PMID:19412328, PMID:19561025, PMID:19716085, PMID:19799913, PMID:19841300, PMID:19862833, PMID:20031634, PMID:20110800, PMID:20129283, PMID:20384651, PMID:20448214, PMID:20458009, PMID:20539757, PMID:20981092, PMID:21167004, PMID:21483645, PMID:21596231, PMID:21622575, PMID:21705349, PMID:22277643, PMID:22338672, PMID:22378279, PMID:22581653, PMID:22675453, PMID:22677073, PMID:22685113, PMID:22710484, PMID:22766342, PMID:22840528, PMID:22885917, PMID:22899775, PMID:22995991, PMID:22999724, PMID:23299917, PMID:23321620, PMID:23414114, PMID:23465283, PMID:23571586, PMID:23631430, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24059039, PMID:24136861, PMID:24613995, PMID:24667783, PMID:24721456, PMID:24721642, PMID:24736382, PMID:24762805, PMID:24784157, PMID:24815523, PMID:25102755, PMID:25171853, PMID:25179549, PMID:25210054, PMID:25348405, PMID:25351510, PMID:25554238, PMID:25624448, PMID:25637381, PMID:25741286, PMID:25741868, PMID:25757662, PMID:25904541, PMID:26066609, PMID:26159999, PMID:26189708, PMID:26304136, PMID:26332594, PMID:26406308, PMID:26467025, PMID:26633542, PMID:26636822, PMID:26733869, PMID:26743238, PMID:26746457, PMID:26884609, PMID:27066507, PMID:27287068, PMID:27332903, PMID:27435932, PMID:27834932, PMID:27896284, PMID:27930701, PMID:28074886, PMID:28087566, PMID:28416588, PMID:28492532, PMID:28701297, PMID:28837624, PMID:29998127, PMID:30311386, PMID:31333075, PMID:31568572 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
JBrowse link
G Sgcd sarcoglycan, delta ISO 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: Dilated Cardiomyopathy, Dominant
ClinVar PMID:24033266, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr10:32,062,946...32,471,454
Ensembl chr10:32,062,946...32,471,454
JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chr15:41,549,330...41,595,275
Ensembl chr15:41,549,331...41,595,345
JBrowse link
G Shbg sex hormone binding globulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25996886 NCBI chr10:56,219,861...56,237,354
Ensembl chr10:56,219,858...56,223,245
JBrowse link
G Sik1 salt-inducible kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chr20:10,670,747...10,680,279
Ensembl chr20:10,668,411...10,680,283
JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641380 NCBI chr10:39,201,101...39,228,090
Ensembl chr10:39,201,107...39,323,853
JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
JBrowse link
G Slc8a1 solute carrier family 8 member A1 ISO RGD PMID:23436819 RGD:10053661 NCBI chr 6:4,244,076...4,564,262
Ensembl chr 6:4,258,991...4,520,604
JBrowse link
G Snai1 snail family transcriptional repressor 1 ISS MouseDO NCBI chr 3:164,274,710...164,279,199
Ensembl chr 3:164,274,710...164,279,378
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
G Snx25 sorting nexin 25 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:49,328,958...49,432,415
Ensembl chr16:49,350,884...49,432,118
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16155095, PMID:21195081, PMID:11677043, PMID:10425186 RGD:1581260, RGD:1580837 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Sp4 Sp4 transcription factor ISO RGD PMID:15972724 RGD:1581308 NCBI chr 6:146,135,877...146,201,344
Ensembl chr 6:146,135,877...146,195,819
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:30311386 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
JBrowse link
G Spink1 serine peptidase inhibitor, Kazal type 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:10691414, PMID:10835640, PMID:12011155, PMID:12187509, PMID:12483248, PMID:12629264, PMID:12743777, PMID:12853682, PMID:16885867, PMID:17204147, PMID:17466744, PMID:17525091, PMID:17568390, PMID:18286680, PMID:18414673, PMID:18617776, PMID:19299380, PMID:19453252, PMID:22427236, PMID:22749696, PMID:23951356, PMID:24033266, PMID:24522117, PMID:25206283, PMID:25741868, PMID:27535533, PMID:28492532, PMID:28546062, PMID:28556356, PMID:28609377, PMID:28984793, PMID:30311386 NCBI chr18:38,221,919...38,242,092
Ensembl chr18:38,221,681...38,242,119
JBrowse link
G Srf serum response factor ISO
ISS
MouseDO PMID:16260633 RGD:1580754 NCBI chr 9:16,737,637...16,747,226
Ensembl chr 9:16,737,642...16,747,225
JBrowse link
G Stk38 serine/threonine kinase 38 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr20:6,224,300...6,257,613
Ensembl chr20:6,224,296...6,257,604
JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Dilated ClinVar NCBI chr 6:98,884,269...99,153,551 JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr 1:170,585,160...170,586,428
Ensembl chr 1:170,585,167...170,586,603
JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Familial dilated cardiomyopathy ClinVar PMID:25645515, PMID:25741868, PMID:32576985 NCBI chr10:59,743,356...59,748,063
Ensembl chr10:59,743,544...59,748,062
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar PMID:4685904, PMID:9382096, PMID:11896212, PMID:12468278, PMID:19438153, PMID:19700766, PMID:20530761, PMID:24033266, PMID:24342716, PMID:25741868, PMID:25941633, PMID:26350513, PMID:28492532, PMID:11896212 RGD:1578363 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
JBrowse link
G Tbx20 T-box transcription factor 20 ISS
ISO
ClinVar Annotator: match by term: Primary dilated cardiomyopathy MouseDO
ClinVar
PMID:17668378, PMID:25741868, PMID:30311386, PMID:31333075, PMID:31568572 NCBI chr 8:25,849,394...25,904,570
Ensembl chr 8:25,850,962...25,904,570
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, congestive
ClinVar PMID:10655062, PMID:28492532 NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
JBrowse link
G Tcf7l2 transcription factor 7 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 1:276,686,911...276,730,517
Ensembl chr 1:276,659,542...276,730,514
Ensembl chr 1:276,659,542...276,730,514
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO protein:increased expression:myocardium RGD PMID:14752511 RGD:1578494 NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISS MouseDO NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
G Tmod1 tropomodulin 1 ISS MouseDO NCBI chr 5:61,635,244...61,712,052
Ensembl chr 5:61,657,507...61,712,051
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, PMID:28074886, PMID:28492532, PMID:30327538 NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
JBrowse link
G Tnf tumor necrosis factor ISO
ISS
protein:increased expression:plasma: MouseDO PMID:14984724 RGD:7401238 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
JBrowse link
G Tnfrsf9 TNF receptor superfamily member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 5:168,009,245...168,035,813
Ensembl chr 5:168,009,393...168,035,810
JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr13:79,269,973...79,293,775
Ensembl chr13:79,269,973...79,293,778
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
G Tnfsf9 TNF superfamily member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 9:9,909,942...9,912,276
Ensembl chr 9:9,909,948...9,912,276
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:24033266, PMID:25741868, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr16:7,292,207...7,295,238
Ensembl chr16:7,292,096...7,295,465
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: Dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, congestive
ClinVar
CTD
PMID:3144325, PMID:9241277, PMID:10806205, PMID:11735257, PMID:11815426, PMID:12707239, PMID:12860912, PMID:15070570, PMID:15524171, PMID:15607392, PMID:15698845, PMID:15992656, PMID:16020591, PMID:16199542, PMID:16352453, PMID:18175163, PMID:18414213, PMID:20474083, PMID:20641121, PMID:21310275, PMID:21511876, PMID:21533915, PMID:22464770, PMID:22876777, PMID:23270746, PMID:23283745, PMID:23610579, PMID:23967088, PMID:24033266, PMID:24111713, PMID:24113344, PMID:24503780, PMID:24510615, PMID:25132132, PMID:25228707, PMID:25324519, PMID:25351510, PMID:25524337, PMID:25741868, PMID:25940119, PMID:27532257, PMID:27600940, PMID:28138913, PMID:28166811, PMID:28193612, PMID:28492532, PMID:28771489, PMID:28790153, PMID:31333075, PMID:31568572, PMID:15070570 RGD:1580422 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link
G Tnni3k TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar NCBI chr 2:261,069,210...261,337,294
Ensembl chr 2:261,069,203...261,337,163
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 NCBI chr 1:72,889,270...72,899,629
Ensembl chr 1:72,889,270...72,899,659
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: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, congestive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar
CTD
PMID:7898523, PMID:11684629, PMID:12818575, PMID:12881443, PMID:12923187, PMID:14636924, PMID:14654368, PMID:15464434, PMID:15542288, PMID:15623536, PMID:15769782, PMID:15923195, PMID:15958377, PMID:16093482, PMID:17101185, PMID:17278368, PMID:17556660, PMID:17932326, PMID:18056765, PMID:18154728, PMID:18349139, PMID:18467357, PMID:18506004, PMID:18606313, PMID:19253838, PMID:19324435, PMID:19412328, PMID:19477965, PMID:20031601, PMID:20031618, PMID:20083571, PMID:20215591, PMID:20298698, PMID:20973921, PMID:21310275, PMID:21415410, PMID:21424860, PMID:21483645, PMID:21551322, PMID:21846512, PMID:22292720, PMID:22464770, PMID:22517884, PMID:22675533, PMID:22958901, PMID:23074333, PMID:23349452, PMID:23539503, PMID:23861362, PMID:24033266, PMID:24093860, PMID:24119082, PMID:24205113, PMID:24367593, PMID:24503780, PMID:24992688, PMID:25448463, PMID:25741868, PMID:26084686, PMID:26507537, PMID:26656454, PMID:26779504, PMID:27411801, PMID:27532257, PMID:27576561, PMID:27757084, PMID:28255936, PMID:28352236, PMID:28416588, PMID:28492532, PMID:28669108, PMID:29121657, PMID:29367539, PMID:29367541, PMID:29773157, PMID:30311386, PMID:31333075, PMID:31568572, PMID:11684629 RGD:1580442 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link
G Tp53 tumor protein p53 IEP RGD PMID:26004897 RGD:13782348 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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:20117437, PMID:20215591, PMID:20530761, PMID:21310275, PMID:21483645, PMID:23539503, PMID:24033266, PMID:25241052, PMID:25242052, PMID:25326635, PMID:25525159, PMID:25548289, PMID:25741868, PMID:26899768, PMID:27177193, PMID:27532257, PMID:28359939, PMID:28492532, PMID:28600229, PMID:28603979, PMID:29024827, PMID:29517769, PMID:31333075, PMID:31568572 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:30311386 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link
G Trdn triadin ISO protein:decreased expression:heart RGD PMID:17400717 RGD:7327229 NCBI chr 1:25,403,390...25,787,664
Ensembl chr 1:25,403,390...25,839,345
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 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346
JBrowse link
G Ttn titin ISO mRNA,protein:altered expression:heart:
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Congestive cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy
ClinVar Annotator: match by term: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, congestive
CTD Direct Evidence: marker/mechanism
DNA:variants:cds:
ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar
CTD
PMID:10051295, PMID:11788824, PMID:11846417, PMID:12145747, PMID:15802564, PMID:16733766, PMID:17444505, PMID:18414213, PMID:18948003, PMID:21520333, PMID:21810661, PMID:22335739, PMID:22526018, PMID:23299917, PMID:23396983, PMID:23418287, PMID:23486992, PMID:23757202, PMID:23861362, PMID:23975875, PMID:24033266, PMID:24055113, PMID:24105469, PMID:24119082, PMID:24231549, PMID:24271327, PMID:24395473, PMID:24503780, PMID:24569025, PMID:24578547, PMID:24980681, PMID:25163546, PMID:25214167, PMID:25326635, PMID:25448463, PMID:25589632, PMID:25741868, PMID:26272908, PMID:26315439, PMID:26467025, PMID:26627873, PMID:26639818, PMID:26701604, PMID:26735901, PMID:26777568, PMID:26899768, PMID:27194543, PMID:27532257, PMID:27796757, PMID:27869827, PMID:27930701, PMID:28045975, PMID:28256728, PMID:28416588, PMID:28492532, PMID:28716623, PMID:28822653, PMID:28877744, PMID:28941705, PMID:29361395, PMID:29773157, PMID:29961767, PMID:30311386, PMID:30371277, PMID:30535219, PMID:30536954, PMID:31333075, PMID:31568572, PMID:15345656, PMID:27869827 RGD:1580779, RGD:11565821 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Tubb5 tubulin, beta 5 class I ISO CTD Direct Evidence: marker/mechanism CTD PMID:16155095 NCBI chr20:3,422,448...3,426,420
Ensembl chr20:3,422,461...3,426,371
JBrowse link
G Txn1 thioredoxin 1 ISO RGD PMID:12870673 RGD:1580782 NCBI chr 5:75,049,735...75,057,731
Ensembl chr 5:75,049,747...75,057,752
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:21247928, PMID:24601690, PMID:25741868, PMID:26300845, PMID:28492532 NCBI chr11:86,667,994...86,716,063
Ensembl chr11:86,667,997...86,716,254
JBrowse link
G Ube2i ubiquitin-conjugating enzyme E2I ISO mRNA:increased expression:left ventricle RGD PMID:23360823 RGD:13831294 NCBI chr10:14,618,615...14,639,274
Ensembl chr10:14,620,531...14,630,151
JBrowse link
G Ucn urocortin ISO protein:increased expression:heart left ventricle RGD PMID:11087261, PMID:14577573 RGD:1642796, RGD:1580792 NCBI chr 6:26,602,144...26,602,974
Ensembl chr 6:26,602,144...26,602,974
JBrowse link
G Ucp1 uncoupling protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr19:24,456,976...24,464,808
Ensembl chr19:24,456,976...24,464,807
JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:49,465,958...49,484,975
Ensembl chr16:49,465,968...49,484,985
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: Familial dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, congestive
ClinVar PMID:11815424, PMID:15769782, PMID:16236538, PMID:16712796, PMID:16949038, PMID:17785437, PMID:23299917, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25351510, PMID:25741868, PMID:26191084, PMID:26735901, PMID:27532257, PMID:27930701, PMID:28492532, PMID:29875424, PMID:16236538 RGD:1580356 NCBI chr15:3,455,211...3,544,738
Ensembl chr15:3,455,211...3,544,702
JBrowse link
G Wdr12 WD repeat domain 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25915632 NCBI chr 9:66,851,499...66,878,534
Ensembl chr 9:66,851,940...66,877,972
JBrowse link
dilated cardiomyopathy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dot1l DOT1 like histone lysine methyltransferase ISS OMIM:115200 MouseDO NCBI chr 7:11,786,105...11,824,742
Ensembl chr 7:11,786,105...11,824,742
JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:26676105 NCBI chr16:36,371,489...36,373,551
Ensembl chr16:36,371,489...36,373,546
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, PMID:10080180, PMID:10441578, PMID:10580070, PMID:10587585, PMID:10612827, PMID:10655060, PMID:10662742, PMID:10739751, PMID:10739764, PMID:10814726, PMID:10939567, PMID:11102973, PMID:11180602, PMID:11342468, PMID:11503164, PMID:11561226, PMID:11731280, PMID:11792809, PMID:11792810, PMID:12015247, PMID:12032588, PMID:12196663, PMID:12628721, PMID:12629077, PMID:12649505, PMID:12673789, PMID:12783988, PMID:12788894, PMID:12920062, PMID:12927431, PMID:14597414, PMID:14607793, PMID:14615128, PMID:14675861, PMID:14684700, PMID:14749366, PMID:15053843, PMID:15060110, PMID:15140538, PMID:15148145, PMID:15205219, PMID:15219508, PMID:15317753, PMID:15372542, PMID:15475483, PMID:15668447, PMID:15688064, PMID:15720451, PMID:15724423, PMID:15744034, PMID:15770669, PMID:15843403, PMID:15965218, PMID:15972724, PMID:15996213, PMID:15998779, PMID:16061563, PMID:16174718, PMID:16278265, PMID:16386954, PMID:16407522, PMID:16440304, PMID:16585054, PMID:16809772, PMID:16816143, PMID:16838330, PMID:16990647, PMID:17139325, PMID:17250669, PMID:17274801, PMID:17334235, PMID:17377071, PMID:18031519, PMID:18035086, PMID:18256394, PMID:18396274, PMID:18414213, PMID:18478590, PMID:18549403, PMID:18551513, PMID:18551515, PMID:18564364, PMID:18585512, PMID:18606848, PMID:18611980, PMID:18646565, PMID:18714801, PMID:18795223, PMID:18926329, PMID:19167105, PMID:19283854, PMID:19318026, PMID:19424285, PMID:19427440, PMID:19524666, PMID:19589617, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19875404, PMID:19882644, PMID:20074070, PMID:20127487, PMID:20160190, PMID:20497714, PMID:20576434, PMID:20627339, PMID:20848652, PMID:20980393, PMID:21085127, PMID:21173262, PMID:21315846, PMID:21483645, PMID:21520333, PMID:21632249, PMID:21831885, PMID:21840938, PMID:21846512, PMID:21980471, PMID:22071332, PMID:22103508, PMID:22177269, PMID:22186027, PMID:22199124, PMID:22224630, PMID:22266370, PMID:22276265, PMID:22326558, PMID:22355414, PMID:22464770, PMID:22526018, PMID:22570643, PMID:22700598, PMID:22883396, PMID:22918509, PMID:23071165, PMID:23142632, PMID:23183350, PMID:23328570, PMID:23349452, PMID:23362510, PMID:23427149, PMID:23582089, PMID:23644458, PMID:23701190, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24080738, PMID:24237251, PMID:24375749, PMID:24386194, PMID:24503780, PMID:24623722, PMID:24642510, PMID:24721642, PMID:24768879, PMID:24846508, PMID:25025039, PMID:25163546, PMID:25214167, PMID:25448463, PMID:25525159, PMID:25637381, PMID:25741868, PMID:25873806, PMID:25948554, PMID:25987458, PMID:26084686, PMID:26183555, PMID:26332594, PMID:26404900, PMID:26467025, PMID:26498160, PMID:26602028, PMID:26752647, PMID:27000522, PMID:27153395, PMID:27374873, PMID:27447704, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27760138, PMID:27813223, PMID:27854218, PMID:27896052, PMID:27896284, PMID:27919367, PMID:28074886, PMID:28087566, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28518168, PMID:28531892, PMID:28620495, PMID:28641778, PMID:28663758, PMID:28679633, PMID:28686329, PMID:28701371, PMID:28785654, PMID:28807990, PMID:28874324, PMID:29040816, PMID:29057633, PMID:29095976, PMID:29149195, PMID:29237675, PMID:29237690, PMID:29432544, PMID:29693488, PMID:29791652, PMID:29943882, PMID:29952368, PMID:29970176, PMID:30165862, PMID:30311386, PMID:30420677, PMID:31847799 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
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, PMID:12974739, PMID:15519027, PMID:16199542, PMID:16858239, PMID:17560888, PMID:20045868, PMID:20215591, PMID:20435227, PMID:20474083, PMID:22763267, PMID:22958901, PMID:23283745, PMID:23299917, PMID:23782526, PMID:23861362, PMID:24033266, PMID:24510615, PMID:24621997, PMID:24865491, PMID:25326637, PMID:25377941, PMID:25637381, PMID:25741868, PMID:26090888, PMID:26178432, PMID:26332594, PMID:26458567, PMID:26467025, PMID:27600940, PMID:28420666, PMID:28492532, PMID:28679633 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:17444505, PMID:22335739, PMID:23975875, PMID:24395473, PMID:25589632, PMID:25741868, PMID:28492532 NCBI chr 3:63,565,160...63,837,815 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: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 23
ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA
ClinVar Annotator: match by OMIM:612158
OMIM
ClinVar
PMID:2408213, PMID:14567970, PMID:17097056, PMID:20022194, PMID:20474083, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24082139, PMID:24503780, PMID:25173926, PMID:25179549, PMID:25224718, PMID:25611685, PMID:25626705, PMID:25741868, PMID:26084686, PMID:26899768, PMID:27114410, PMID:27287556, PMID:27532257, PMID:27896284, PMID:28074886, PMID:28301460, PMID:28492532, PMID:28790153, PMID:28878402, PMID:28986455, PMID:29247119, PMID:29447731, PMID:30311386, PMID:30615648, PMID:30775854, PMID:31333075, PMID:31568572 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
dilated cardiomyopathy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
JBrowse link
G Ttn titin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11788824 NCBI chr 3:63,565,160...63,837,815 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:18678517, PMID:19039334, PMID:20031616, PMID:20031617, PMID:20716751, PMID:20864495, PMID:21606390, PMID:23810883, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25741868, PMID:28492532, PMID:29178656 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
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, PMID:15923195, PMID:17932326, PMID:18349139, PMID:18506004, PMID:18606313, PMID:19253838, PMID:21846512, PMID:22675533, PMID:23539503, PMID:24033266, PMID:24367593, PMID:24992688, PMID:25741868, PMID:26656454, PMID:28492532 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
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: Left ventricular noncompaction 3
OMIM
ClinVar
PMID:14660611, PMID:14662268, PMID:15668942, PMID:16427346, PMID:17097056, PMID:19377068, PMID:20852297, PMID:22929165, PMID:23558691, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24647531, PMID:25163546, PMID:25326637, PMID:25351510, PMID:25617006, PMID:25741868, PMID:26419279, PMID:26467025, PMID:27135274, PMID:28349680, PMID:28492532, PMID:28798025 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
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:19881492, PMID:20970104, PMID:24033266, PMID:24503780, PMID:24866383, PMID:25741868, PMID:25979592, PMID:27532257, PMID:28087566, PMID:28333919, PMID:28492532, PMID:28790153, PMID:28798025, PMID:30311386 NCBI chr 2:257,452,937...257,484,607
Ensembl chr 2:257,453,347...257,484,587
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, PMID:9060892, PMID:9201030, PMID:9714088, PMID:9788962, PMID:10085122, PMID:10405326, PMID:10449439, PMID:10467159, PMID:10497196, PMID:10521296, PMID:10525521, PMID:10610467, PMID:10617660, PMID:10978365, PMID:11034944, PMID:11060291, PMID:11060294, PMID:11113119, PMID:11158969, PMID:11346248, PMID:11432788, PMID:11560853, PMID:11606294, PMID:11684629, PMID:11968089, PMID:12084606, PMID:12186860, PMID:12473556, PMID:12707239, PMID:12818575, PMID:12860912, PMID:12881443, PMID:12923187, PMID:14563299, PMID:14636924, PMID:14640471, PMID:14654368, PMID:14722098, PMID:15246915, PMID:15464434, PMID:15519027, PMID:15542288, PMID:15563892, PMID:15623536, PMID:15631686, PMID:15769782, PMID:15923195, PMID:15958377, PMID:16093482, PMID:16115294, PMID:16115869, PMID:16199542, PMID:16326803, PMID:16715312, PMID:16754800, PMID:16777946, PMID:17101185, PMID:17278368, PMID:17456375, PMID:17612745, PMID:17932326, PMID:18029407, PMID:18056765, PMID:18154728, PMID:18258667, PMID:18349139, PMID:18403758, PMID:18506004, PMID:18533079, PMID:18606313, PMID:18651846, PMID:19033660, PMID:19035361, PMID:19087273, PMID:19150014, PMID:19253838, PMID:19275886, PMID:19412328, PMID:19487599, PMID:19645627, PMID:19880069, PMID:19914256, PMID:20031601, PMID:20031602, PMID:20031618, PMID:20038417, PMID:20083571, PMID:20159828, PMID:20215591, PMID:20298698, PMID:20414521, PMID:20439259, PMID:20513729, PMID:20530761, PMID:20624503, PMID:20800588, PMID:20973921, PMID:21310275, PMID:21415410, PMID:21424860, PMID:21483645, PMID:21511876, PMID:21551322, PMID:21683708, PMID:21846512, PMID:22017532, PMID:22112859, PMID:22144547, PMID:22292720, PMID:22321274, PMID:22334656, PMID:22455086, PMID:22464770, PMID:22500102, PMID:22517884, PMID:22579624, PMID:22675533, PMID:22857948, PMID:22958901, PMID:23074333, PMID:23233322, PMID:23283745, PMID:23299917, PMID:23349452, PMID:23396983, PMID:23494605, PMID:23539503, PMID:23663841, PMID:23711808, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24093860, PMID:24111713, PMID:24119082, PMID:24205113, PMID:24367593, PMID:24418317, PMID:24503780, PMID:24691700, PMID:24721642, PMID:24793961, PMID:24992688, PMID:25031304, PMID:25086479, PMID:25351510, PMID:25524337, PMID:25611685, PMID:25637381, PMID:25668678, PMID:25741868, PMID:26084686, PMID:26183555, PMID:26468400, PMID:26498512, PMID:26507537, PMID:26633542, PMID:26656454, PMID:26681313, PMID:26688388, PMID:26743238, PMID:26779504, PMID:26914223, PMID:27022107, PMID:27036851, PMID:27074551, PMID:27082122, PMID:27411801, PMID:27483260, PMID:27493864, PMID:27532257, PMID:27576561, PMID:27600940, PMID:27757084, PMID:27841901, PMID:27930701, PMID:28073646, PMID:28193612, PMID:28255936, PMID:28352236, PMID:28356264, PMID:28408708, PMID:28420666, PMID:28492532, PMID:28566242, PMID:28735292, PMID:28771489, PMID:28973083, PMID:28973951, PMID:29121657, PMID:29367539, PMID:29661763, PMID:29773157, PMID:29907873, PMID:30165862, PMID:30311386 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
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:18585512, PMID:19712804, PMID:20590677, PMID:21483645, PMID:22004663, PMID:22466703, PMID:22561820, PMID:23396983, PMID:23861363, PMID:23886709, PMID:24033266, PMID:24503780, PMID:24584570, PMID:25351510, PMID:25637381, PMID:25741868, PMID:26084686, PMID:26272908, PMID:26458567, PMID:26498160, PMID:26604136, PMID:26656175, PMID:27296017, PMID:27496873, PMID:27532257, PMID:27896284, PMID:28087566, PMID:28416588, PMID:28492532, PMID:28704380, PMID:28798025, PMID:29029073, PMID:29247119, PMID:29367541, PMID:29447731, PMID:29517769, PMID:29540472, PMID:29650543, PMID:29895960, PMID:30311386, PMID:30557877, PMID:30775854, PMID:30871351 NCBI chr 1:274,391,932...274,589,816
Ensembl chr 1:274,391,932...274,589,816
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD ClinVar PMID:15358028, PMID:19754353, PMID:21310275, PMID:24033266, PMID:24992688, PMID:25741868, PMID:27153395, PMID:27532257, PMID:28492532, PMID:28973951 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
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: Dilated cardiomyopathy 1E
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2
OMIM
ClinVar
PMID:2107088, PMID:3953067, PMID:8661019, PMID:10508990, PMID:10807545, PMID:10961955, PMID:10966831, PMID:10973849, PMID:11463728, PMID:11710892, PMID:11804990, PMID:11823453, PMID:11901046, PMID:11960580, PMID:11997281, PMID:12193783, PMID:12354768, PMID:12471205, PMID:12522116, PMID:12566525, PMID:12569159, PMID:12574143, PMID:12639704, PMID:12820704, PMID:14500339, PMID:14523039, PMID:14760488, PMID:14967853, PMID:14985827, PMID:15121794, PMID:15161528, PMID:15176425, PMID:15466642, PMID:15466643, PMID:15556047, PMID:15599693, PMID:15671429, PMID:15689442, PMID:15840476, PMID:15851227, PMID:15851440, PMID:15992732, PMID:15996170, PMID:15998675, PMID:15998690, PMID:16061744, PMID:16132053, PMID:16155735, PMID:16239976, PMID:16267253, PMID:16379539, PMID:16414944, PMID:16453014, PMID:16453024, PMID:16540748, PMID:16568155, PMID:16611632, PMID:16684018, PMID:16707561, PMID:16712702, PMID:16731473, PMID:16922724,