Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Cardiomegaly
go back to main search page
Accession:DOID:9003936 term browser browse the term
Definition:Enlargement of the HEART, usually indicated by a cardiothoracic ratio above 0.50. Heart enlargement may involve the right, the left, or both HEART VENTRICLES or HEART ATRIA. Cardiomegaly is a nonspecific symptom seen in patients with chronic systolic heart failure (HEART FAILURE) or several forms of CARDIOMYOPATHIES.
Synonyms:exact_synonym: Cardiac Hypertrophy;   Enlarged Heart;   Heart Enlargement;   Heart Hypertrophy
 primary_id: MESH:D006332
 xref: EFO:0002503



show annotations for term's descendants           Sort by:
Cardiomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin ISO RGD PMID:12494268 RGD:1549856 NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229
JBrowse link
G ACE angiotensin I converting enzyme treatment ISO RGD PMID:24342267 RGD:11039415 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACOT2 acyl-CoA thioesterase 2 ISO mRNA:decreased expression:heart (rat) RGD PMID:15292030 RGD:2315862 NCBI chr14:73,567,620...73,575,658
Ensembl chr14:73,567,620...73,575,658
JBrowse link
G ADCY10 adenylate cyclase 10 ameliorates ISO RGD PMID:29466442 RGD:329337358 NCBI chr 1:167,809,386...167,914,134
Ensembl chr 1:167,809,386...167,914,215
JBrowse link
G ADRA1B adrenoceptor alpha 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:11278430 PMID:11940550 NCBI chr 5:159,865,086...159,989,205
Ensembl chr 5:159,865,080...159,973,012
JBrowse link
G ADRA2A adrenoceptor alpha 2A EXP CTD Direct Evidence: therapeutic CTD PMID:20083574 NCBI chr10:111,077,029...111,080,907
Ensembl chr10:111,077,029...111,080,907
JBrowse link
G ADRA2C adrenoceptor alpha 2C EXP CTD Direct Evidence: marker/mechanism CTD PMID:20083574 NCBI chr 4:3,766,385...3,768,526
Ensembl chr 4:3,766,348...3,768,526
JBrowse link
G AGT angiotensinogen treatment ISO
EXP
CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:11403367 PMID:15226216 PMID:15851630 PMID:15870116 PMID:17124262 More... RGD:11039415, RGD:155663352, RGD:8548902, RGD:5129174 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO
IMP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17350036 PMID:11324571 PMID:10639182 PMID:21367774 RGD:10047105, RGD:737777, RGD:5129174 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G AGTRAP angiotensin II receptor associated protein ISO RGD PMID:18725581 RGD:2314351 NCBI chr 1:11,736,136...11,750,769
Ensembl chr 1:11,736,084...11,754,802
JBrowse link
G AHR aryl hydrocarbon receptor treatment EXP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:24247421 PMID:23528973 PMID:12665660 RGD:401793732, RGD:401784499 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
JBrowse link
G AKAP5 A-kinase anchoring protein 5 EXP
IDA
CTD Direct Evidence: therapeutic
human gene, mouse model
CTD
RGD
PMID:11248077 PMID:11248077 RGD:2313290 NCBI chr14:64,465,499...64,474,503
Ensembl chr14:64,465,499...64,474,503
JBrowse link
G AKT1 AKT serine/threonine kinase 1 EXP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:24448315 PMID:12237475 RGD:734544 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO RGD PMID:10904011 RGD:1578370 NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087
JBrowse link
G ANXA2 annexin A2 ISO mRNA:increased expression:heart: RGD PMID:10603972 RGD:10053694 NCBI chr15:60,347,151...60,397,986
Ensembl chr15:60,347,134...60,402,883
JBrowse link
G ANXA5 annexin A5 ISO mRNA:increased expression:heart: RGD PMID:10603972 RGD:10053694 NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995
JBrowse link
G AOC1 amine oxidase copper containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:6218830 NCBI chr 7:150,852,120...150,861,504
Ensembl chr 7:150,824,627...150,861,504
JBrowse link
G APLN apelin ISO
EXP
associated with Hypertension;protein:decreased expression:plasma, aorta, ventricle myocardium
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:30634441 PMID:16674982 RGD:1626173 NCBI chr  X:129,645,259...129,654,956
Ensembl chr  X:129,645,259...129,654,956
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr 1:150,809,713...150,876,599
Ensembl chr 1:150,809,713...150,876,708
JBrowse link
G ATF3 activating transcription factor 3 IMP RGD PMID:11485922 RGD:7327201 NCBI chr 1:212,565,407...212,620,777
Ensembl chr 1:212,565,334...212,620,777
JBrowse link
G ATG16L1 autophagy related 16 like 1 treatment ISO RGD PMID:24998254 RGD:11561938 NCBI chr 2:233,251,673...233,295,669
Ensembl chr 2:233,210,051...233,295,674
JBrowse link
G ATG5 autophagy related 5 treatment ISO RGD PMID:24998254 RGD:11561938 NCBI chr 6:106,184,476...106,325,760
Ensembl chr 6:106,045,423...106,325,791
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO RGD PMID:15644428 RGD:6903354 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 treatment EXP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11679415 PMID:29792884 RGD:13782078 NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
JBrowse link
G ATP5F1D ATP synthase F1 subunit delta treatment ISO RGD PMID:25880160 RGD:13792672 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825
JBrowse link
G AVPR1A arginine vasopressin receptor 1A ISO associated with Heart Failure, Congestive RGD PMID:18467593 RGD:2300338 NCBI chr12:63,142,759...63,151,201
Ensembl chr12:63,142,759...63,151,201
JBrowse link
G BAD BCL2 associated agonist of cell death treatment ISO associated with Hypertension RGD PMID:21921241 RGD:10053646 NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704
JBrowse link
G BAMBI BMP and activin membrane bound inhibitor EXP CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr10:28,677,521...28,682,932
Ensembl chr10:28,677,510...28,682,932
JBrowse link
G BECN1 beclin 1 treatment ISO mRNA, protein:increased expression:heart left ventricle RGD PMID:23326547 PMID:24998254 RGD:11561904, RGD:11561938 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO protein:increased expression:heart: RGD PMID:23747723 RGD:8847123 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit ISO RGD PMID:18420946 RGD:9686423 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
JBrowse link
G CABIN1 calcineurin binding protein 1 EXP CTD Direct Evidence: therapeutic CTD PMID:11248077 NCBI chr22:24,011,304...24,178,628
Ensembl chr22:24,011,192...24,178,628
JBrowse link
G CAMK2D calcium/calmodulin dependent protein kinase II delta treatment ISO RGD PMID:26619200 RGD:401940196 NCBI chr 4:113,451,032...113,761,738
Ensembl chr 4:113,418,054...113,761,927
JBrowse link
G CAV1 caveolin 1 ISO
EXP
protein:increased expression:aorta
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17487232 PMID:17487232 RGD:2289120 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CAV3 caveolin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19299911 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
JBrowse link
G CCND2 cyclin D2 EXP CTD Direct Evidence: therapeutic CTD PMID:15576649 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
JBrowse link
G CD36 CD36 molecule (CD36 blood group) treatment ISO associated with Obesity RGD PMID:26036798 RGD:11040928 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G CD38 CD38 molecule ISO RGD PMID:18719074 RGD:2307236 NCBI chr 4:15,778,328...15,853,232
Ensembl chr 4:15,778,275...15,853,232
JBrowse link
G CD44 CD44 molecule (IN blood group) ISO protein:increased expression:coronary artery RGD PMID:18196276 RGD:2289364 NCBI chr11:35,139,171...35,232,402
Ensembl chr11:35,138,882...35,232,402
JBrowse link
G CEBPB CCAAT enhancer binding protein beta EXP CTD Direct Evidence: therapeutic CTD PMID:29266779 NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,830...50,192,668
JBrowse link
G CMA1 chymase 1 ISO mRNA:increased expression:heart left ventricle (mouse) RGD PMID:11828013 RGD:5128508 NCBI chr14:24,505,353...24,508,265
Ensembl chr14:24,505,353...24,508,265
JBrowse link
G CORIN corin, serine peptidase IAGP
ISO
DNA:SNPs:associated with increased risk
mRNA:increased expression:heart (rat)
RGD PMID:17485366 PMID:15191894 RGD:1626338, RGD:1581217 NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106
JBrowse link
G COX5B cytochrome c oxidase subunit 5B ISO associated with Hypertension RGD PMID:16132109 RGD:2301377 NCBI chr 2:97,646,062...97,648,383
Ensembl chr 2:97,646,062...97,648,383
JBrowse link
G CPT1B carnitine palmitoyltransferase 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:24330405 NCBI chr22:50,568,861...50,578,612
Ensembl chr22:50,568,861...50,578,465
JBrowse link
G CREM cAMP responsive element modulator IDA RGD PMID:15569686 RGD:1581291 NCBI chr10:35,126,846...35,212,958
Ensembl chr10:35,126,791...35,212,958
JBrowse link
G CS citrate synthase ISO RGD PMID:12941647 RGD:243048478 NCBI chr12:56,271,699...56,300,330
Ensembl chr12:56,271,699...56,300,391
JBrowse link
G CTF1 cardiotrophin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18400235 PMID:19100119 NCBI chr16:30,895,846...30,903,560
Ensembl chr16:30,896,614...30,903,547
JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 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 chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO RGD PMID:15939810 RGD:2307307 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846
JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 ISO RGD PMID:15939810 RGD:2307307 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 treatment EXP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18725507 PMID:23528973 RGD:401793732 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 treatment ISO
EXP
associated with Hypertension
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18725507 PMID:20805442 PMID:23528973 PMID:20805442 RGD:7829714, RGD:401793732, RGD:7829714 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
JBrowse link
G CYP2C18 cytochrome P450 family 2 subfamily C member 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18725507 NCBI chr10:94,683,729...94,736,190
Ensembl chr10:94,683,729...94,736,190
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18725507 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
JBrowse link
G DLL4 delta like canonical Notch ligand 4 treatment ISO RGD PMID:23188126 RGD:155663352 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
JBrowse link
G DMD dystrophin EXP CTD Direct Evidence: marker/mechanism CTD PMID:23297412 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609
JBrowse link
G DSC2 desmocollin 2 ISO protein:increased expression:heart (rat) RGD PMID:26708424 RGD:264347602 NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600
JBrowse link
G DSG2 desmoglein 2 ISO protein:increased expression:heart (rat) RGD PMID:26708424 RGD:264347602 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351
JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A treatment ISO protein:decreased expression:heart (rat) RGD PMID:26619200 PMID:19906449 PMID:24524606 RGD:401940196, RGD:401959215, RGD:401959210 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
JBrowse link
G EDN1 endothelin 1 severity EXP
ISO
CTD Direct Evidence: marker/mechanism
protein:increased expression:heart ventricle, plasma (rat)
CTD
RGD
PMID:22198280 PMID:7771559 RGD:8661803 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G EGFR epidermal growth factor receptor ISO RGD PMID:15652507 RGD:1580954 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G EGR1 early growth response 1 ISO RGD PMID:16025126 RGD:5131654 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
JBrowse link
G EP300 E1A binding protein p300 ISO associated with Diabetes Mellitus, Experimental; mRNA:increased expression:heart left ventricle (rat) RGD PMID:23211718 RGD:7327187 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
JBrowse link
G ERRFI1 ERBB receptor feedback inhibitor 1 treatment ISO protein:increased expression:heart: RGD PMID:19204184 PMID:19204184 RGD:9685562, RGD:9685562 NCBI chr 1:8,011,727...8,026,309
Ensembl chr 1:8,004,404...8,026,309
JBrowse link
G FADS2 fatty acid desaturase 2 treatment ISO RGD PMID:24284026 RGD:401901245 NCBI chr11:61,816,203...61,867,354
Ensembl chr11:61,792,980...61,867,354
JBrowse link
G FGF2 fibroblast growth factor 2 ISO
EXP
mRNA:increased expression:heart
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:10491406 PMID:18196276 RGD:2289364 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
JBrowse link
G FGF21 fibroblast growth factor 21 ISO RGD PMID:23771152 RGD:10401893 NCBI chr19:48,755,524...48,758,330
Ensembl chr19:48,755,524...48,758,333
JBrowse link
G FHL2 four and a half LIM domains 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25358972 NCBI chr 2:105,357,712...105,438,529
Ensembl chr 2:105,357,712...105,438,513
JBrowse link
G FNDC5 fibronectin type III domain containing 5 EXP CTD Direct Evidence: therapeutic CTD PMID:30703374 NCBI chr 1:32,862,268...32,872,484
Ensembl chr 1:32,862,268...32,872,482
JBrowse link
G FXYD1 FXYD domain containing ion transport regulator 1 treatment ISO RGD PMID:24218169 RGD:9685471 NCBI chr19:35,137,188...35,143,109
Ensembl chr19:35,138,824...35,143,109
JBrowse link
G GAS6 growth arrest specific 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19564549 NCBI chr13:113,820,549...113,864,076
Ensembl chr13:113,820,549...113,864,076
JBrowse link
G GATA4 GATA binding protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16259952 PMID:18252717 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
JBrowse link
G GDF1 growth differentiation factor 1 exacerbates ISO RGD PMID:24275554 RGD:11252017 NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158
JBrowse link
G GLRX3 glutaredoxin 3 EXP CTD Direct Evidence: therapeutic CTD PMID:16809552 NCBI chr10:130,136,391...130,180,377
Ensembl chr10:130,136,391...130,184,521
JBrowse link
G GNAQ G protein subunit alpha q ISO RGD PMID:9811897 RGD:1598475 NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
JBrowse link
G GPX3 glutathione peroxidase 3 treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 severity ISO
EXP
protein:increased expression:heart left ventricle (mouse)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11901213 PMID:25982117 PMID:23969695 RGD:11052788, RGD:13792712 NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556
JBrowse link
G GRK3 G protein-coupled receptor kinase 3 ISO mRNA:increased expression:heart left ventricle (rat) RGD PMID:20677219 RGD:5685025 NCBI chr22:25,564,675...25,729,294
Ensembl chr22:25,564,675...25,729,294
JBrowse link
G GSK3B glycogen synthase kinase 3 beta ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17901358 PMID:19318234 RGD:10045585 NCBI chr 3:119,821,321...120,094,447
Ensembl chr 3:119,821,321...120,094,994
JBrowse link
G GSN gelsolin treatment EXP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:30240538 PMID:30240538 RGD:329333015 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843
JBrowse link
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
JBrowse link
G GSTM2 glutathione S-transferase mu 2 treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr 1:109,668,057...109,683,997
Ensembl chr 1:109,668,022...109,709,551
JBrowse link
G H19 H19 imprinted maternally expressed transcript ISO
IEP
RNA:increased expression:heart left ventricle (mouse)
RNA:increased expression:heart (mouse)
RNA:decrased expression:blood serum (human)
RGD PMID:27317124 PMID:27084844 PMID:35139769 RGD:243048444, RGD:155882575, RGD:155260312 NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,166...2,004,552
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO RGD PMID:24424338 RGD:11041632 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
JBrowse link
G HAND1 heart and neural crest derivatives expressed 1 ISO mRNA:decreased expression:heart left ventricle
mRNA:decreased expression:cardiac ventricle
RGD PMID:12359233 PMID:12359233 RGD:727442, RGD:727442 NCBI chr 5:154,474,972...154,478,227
Ensembl chr 5:154,474,972...154,478,227
JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 ISO
EXP
mRNA:decreased expression:heart right ventricle
CTD Direct Evidence: marker/mechanism
mRNA:altered expression:cardiac ventricle
CTD
RGD
PMID:29394407 PMID:12359233 PMID:12359233 RGD:727442, RGD:727442 NCBI chr 4:173,526,091...173,530,229
Ensembl chr 4:173,524,969...173,530,229
JBrowse link
G HAS1 hyaluronan synthase 1 ISO mRNA:increased expression:heart RGD PMID:18196276 RGD:2289364 NCBI chr19:51,713,112...51,723,991
Ensembl chr19:51,713,112...51,723,991
JBrowse link
G HAS2 hyaluronan synthase 2 ISO mRNA:increased expression:heart RGD PMID:18196276 RGD:2289364 NCBI chr 8:121,612,116...121,641,440
Ensembl chr 8:121,612,116...121,641,440
JBrowse link
G HDAC2 histone deacetylase 2 ISO
EXP
protein:increased acetylation:heart:
CTD Direct Evidence: marker/mechanism
protein:increased activity:heart:
CTD
RGD
PMID:18625706 PMID:24526703 PMID:18849323 RGD:9590211, RGD:2306446 NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308
JBrowse link
G HDAC8 histone deacetylase 8 treatment ISO associated with Hypertension RGD PMID:23868068 PMID:25504627 RGD:9681716, RGD:13208811 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101
JBrowse link
G HES1 hes family bHLH transcription factor 1 treatment ISO RGD PMID:23188126 RGD:155663352 NCBI chr 3:194,136,148...194,138,732
Ensembl chr 3:194,136,148...194,138,732
JBrowse link
G HFE homeostatic iron regulator ISO associated with hemochromatosis RGD PMID:28720890 RGD:14746969 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha EXP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15942707 PMID:12665660 RGD:401784499 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G HMGB1 high mobility group box 1 treatment IMP RGD PMID:23708738 RGD:10402070 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
JBrowse link
G HMOX1 heme oxygenase 1 EXP CTD Direct Evidence: therapeutic CTD PMID:15226216 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G HOTAIR HOX transcript antisense RNA ISO RNA:decreased expression:heart left ventricle (mouse) RGD PMID:27317124 RGD:243048444 NCBI chr12:53,962,312...53,974,954
Ensembl chr12:53,962,308...53,974,956
JBrowse link
G HRC histidine rich calcium binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:17030629 NCBI chr19:49,151,198...49,155,396
Ensembl chr19:49,151,198...49,155,396
JBrowse link
G HSF1 heat shock transcription factor 1 treatment ISO RGD PMID:25804640 RGD:10402399 NCBI chr 8:144,291,604...144,314,720
Ensembl chr 8:144,291,591...144,314,720
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO protein:increased expression:heart RGD PMID:20005206 RGD:401938624 NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B EXP CTD Direct Evidence: marker/mechanism CTD PMID:15302781 PMID:19023134 PMID:20374255 NCBI chr 2:231,108,230...231,125,042
Ensembl chr 2:231,108,230...231,125,042
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
JBrowse link
G IGF1 insulin like growth factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10547078 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:18801929 RGD:2311509 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G IL18 interleukin 18 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18660453 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL1B interleukin 1 beta EXP
ISO
CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:heart
CTD
RGD
PMID:15302781 PMID:15542404 RGD:1581939 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RL1 interleukin 1 receptor like 1 severity ISO RGD PMID:17492053 RGD:40813740 NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037
JBrowse link
G IL33 interleukin 33 treatment ISO protein:increased expression:cardiomyocyte RGD PMID:17492053 PMID:17492053 RGD:40813740, RGD:40813740 NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
JBrowse link
G IL6 interleukin 6 ISO mRNA, protein:increased expression:heart RGD PMID:15542404 RGD:1581939 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer ISO RGD PMID:10219240 RGD:737751 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
JBrowse link
G IRF4 interferon regulatory factor 4 ISO RGD PMID:23589561 RGD:11530060 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443
JBrowse link
G IRX4 iroquois homeobox 4 ISO RGD PMID:11238910 RGD:1582289 NCBI chr 5:1,877,413...1,887,179
Ensembl chr 5:1,877,413...1,887,236
JBrowse link
G ITGA3 integrin subunit alpha 3 ISO protein:increased expression:cardiac myocyte (rat) RGD PMID:1835909 RGD:2325829 NCBI chr17:50,056,110...50,090,481
Ensembl chr17:50,055,968...50,090,481
JBrowse link
G ITPR2 inositol 1,4,5-trisphosphate receptor type 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20616315 NCBI chr12:26,335,352...26,833,194
Ensembl chr12:26,335,352...26,833,194
JBrowse link
G KAT8 lysine acetyltransferase 8 treatment ISO
IMP
mRNA, protein:decreased expression:heart (mouse)
human gene in a mouse model
RGD PMID:24802406 PMID:24802406 RGD:9586036, RGD:9586036 NCBI chr16:31,117,664...31,131,393
Ensembl chr16:31,114,489...31,131,393
JBrowse link
G KCND3 potassium voltage-gated channel subfamily D member 3 ISO protein:decreased expression:heart: RGD PMID:23747723 RGD:8847123 NCBI chr 1:111,770,662...111,989,668
Ensembl chr 1:111,770,662...111,989,668
JBrowse link
G KDM4A lysine demethylase 4A ISO RGD PMID:21555854 RGD:9587422 NCBI chr 1:43,650,149...43,705,518
Ensembl chr 1:43,650,149...43,705,518
JBrowse link
G KL klotho treatment ISO RGD PMID:23225045 RGD:10403062 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143
JBrowse link
G KLF5 KLF transcription factor 5 ISO RGD PMID:15098654 RGD:1304323 NCBI chr13:73,054,976...73,077,538
Ensembl chr13:73,054,976...73,077,541
JBrowse link
G KLK1 kallikrein 1 IDA RGD PMID:17137568 RGD:1641797 NCBI chr19:50,819,146...50,823,787
Ensembl chr19:50,819,146...50,823,787
JBrowse link
G LIF LIF interleukin 6 family cytokine EXP CTD Direct Evidence: marker/mechanism CTD PMID:15226216 NCBI chr22:30,240,453...30,246,759
Ensembl chr22:30,240,453...30,246,759
JBrowse link
G LOXL1 lysyl oxidase like 1 ISO RGD PMID:17378376 RGD:7394734 NCBI chr15:73,926,462...73,952,136
Ensembl chr15:73,925,989...73,952,137
JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 ISO mRNA:increased expression:heart (mouse) RGD PMID:29510080 RGD:213230163 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378
JBrowse link
G LYN LYN proto-oncogene, Src family tyrosine kinase ISO RGD PMID:17039281 RGD:2303711 NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169
JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha treatment ISO RGD PMID:24998254 RGD:11561938 NCBI chr20:34,546,844...34,560,345
Ensembl chr20:34,546,854...34,560,345
JBrowse link
G MAP2K5 mitogen-activated protein kinase kinase 5 ISO RGD PMID:11387209 RGD:1580866 NCBI chr15:67,542,703...67,807,114
Ensembl chr15:67,542,703...67,807,117
JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:15722372 PMID:12750397 RGD:1582275, RGD:13782145 NCBI chr17:69,414,697...69,553,865
Ensembl chr17:69,414,697...69,553,865
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 treatment
ameliorates
ISO protein:increased phosphorylation:heart (mouse)
mRNA:increased expression:wall of left ventricle (rat)
RGD PMID:28821620 PMID:26891723 PMID:34733837 PMID:35490166 PMID:32971071 More... RGD:155804266, RGD:11555743, RGD:155791674, RGD:155791668, RGD:155791643, RGD:155791650, RGD:155791647, RGD:155791649, RGD:155791644 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO RGD PMID:15607907 RGD:1582283 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO RGD PMID:12668503 RGD:1582316 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MEIS1 Meis homeobox 1 ISO mRNA, protein:decreased expression:heart (mouse) RGD PMID:26597775 RGD:11554891 NCBI chr 2:66,435,125...66,573,869
Ensembl chr 2:66,433,452...66,573,869
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:ventricle (rat) RGD PMID:10489112 RGD:2317547 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G MFN1 mitofusin 1 treatment ISO RGD PMID:28503736 RGD:12910714 NCBI chr 3:179,347,709...179,394,936
Ensembl chr 3:179,347,709...179,394,936
JBrowse link
G MFN2 mitofusin 2 treatment ISO
EXP
associated with Hypertension:protein:decreased expression:heart (rat)
CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:heart (mouse)
CTD
RGD
PMID:17499311 PMID:27847271 PMID:27085127 PMID:28503736 PMID:27565029 RGD:12910764, RGD:12910835, RGD:12910714, RGD:12910768 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
G MIR125B2 microRNA 125b-2 EXP CTD Direct Evidence: therapeutic CTD PMID:29122578 NCBI chr21:16,590,237...16,590,325
Ensembl chr21:16,590,237...16,590,325
JBrowse link
G MIR145 microRNA 145 treatment ISO miRNA:increased expression:blood serum (human) RGD PMID:35139769 PMID:35139769 RGD:155260312, RGD:155260312 NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733
JBrowse link
G MIR208A microRNA 208a treatment ISO RGD PMID:33605072 RGD:213230164 NCBI chr14:23,388,596...23,388,666
Ensembl chr14:23,388,596...23,388,666
JBrowse link
G MIR21 microRNA 21 EXP
ISO
CTD Direct Evidence: marker/mechanism
RNA:increased expression:heart:
CTD
RGD
PMID:17525252 PMID:32040481 RGD:41404711 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G MIR223 microRNA 223 ISO RGD PMID:27226563 RGD:329322878 NCBI chr  X:66,018,870...66,018,979
Ensembl chr  X:66,018,870...66,018,979
JBrowse link
G MIR23A microRNA 23a ISO RGD PMID:22084234 RGD:155882559 NCBI chr19:13,836,587...13,836,659
Ensembl chr19:13,836,587...13,836,659
JBrowse link
G MIR30A microRNA 30a ISO RNA:decreased expression:heart left ventricle RGD PMID:23326547 RGD:11561904 NCBI chr 6:71,403,551...71,403,621
Ensembl chr 6:71,403,551...71,403,621
JBrowse link
G MIR30B microRNA 30b ISO RNA:decreased expression:heart left ventricle RGD PMID:23326547 RGD:11561904 NCBI chr 8:134,800,520...134,800,607
Ensembl chr 8:134,800,520...134,800,607
JBrowse link
G MIR384 microRNA 384 EXP CTD Direct Evidence: therapeutic CTD PMID:35510648 NCBI chr  X:76,919,273...76,919,360
Ensembl chr  X:76,919,273...76,919,360
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:16327176 RGD:1582627 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO mRNA:increased expression:heart left ventricle RGD PMID:17207419 RGD:1642047 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MT2A metallothionein 2A EXP CTD Direct Evidence: therapeutic CTD PMID:11309296 NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO associated with Aortic Valve Stenosis RGD PMID:20861467 RGD:10003169 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
JBrowse link
G MYBPC3 myosin binding protein C3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22189562 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor treatment ISO RGD PMID:22000973 RGD:7240700 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G MYH6 myosin heavy chain 6 ISO RGD PMID:1703406 RGD:12798563 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
JBrowse link
G MYH7 myosin heavy chain 7 ISO mRNA, protein:increased expression:heart (mouse) RGD PMID:1703406 PMID:26597775 RGD:12798563, RGD:11554891 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G MYOCD myocardin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16556869 NCBI chr17:12,665,890...12,768,949
Ensembl chr17:12,665,890...12,768,949
JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 ISO RGD PMID:24388463 RGD:7800726 NCBI chr11:47,579,074...47,584,562
Ensembl chr11:47,565,336...47,584,562
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
JBrowse link
G NKX2-5 NK2 homeobox 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28973413 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G NME1 NME/NM23 nucleoside diphosphate kinase 1 ISO protein:increased expression:heart, plasma membrane (rat) RGD PMID:14559858 RGD:5132887 NCBI chr17:51,153,559...51,162,168
Ensembl chr17:51,153,559...51,162,428
JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:17673519 RGD:1642136 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO
EXP
protein:increased expression:aorta
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
RGD
PMID:11504159 PMID:12224825 PMID:16844920 PMID:17487232 PMID:17487232 More... RGD:2289120, RGD:13504707 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NOTCH1 notch receptor 1 treatment ISO RGD PMID:23188126 RGD:155663352 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G NPPA natriuretic peptide A treatment
ameliorates
ISO
EXP
mRNA, protein:increased expression:heart (mouse)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12224825 PMID:18056528 PMID:20886221 PMID:21242511 PMID:21297083 More... RGD:7297051, RGD:155663352, RGD:11554891, RGD:11252017 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
JBrowse link
G NPPB natriuretic peptide B ameliorates
treatment
ISO
EXP
associated with Hypertension;mRNA:increased expression:heart
mRNA:decreased expression:heart (mouse)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15942707 PMID:15969258 PMID:18056528 PMID:21565836 PMID:16762434 More... RGD:1642206, RGD:401940178, RGD:11252017, RGD:7297051 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO
EXP
associated with Hypertension
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20881240 PMID:9405681 RGD:737701 NCBI chr 1:153,678,688...153,693,992
Ensembl chr 1:153,678,688...153,693,992
JBrowse link
G OGT O-linked N-acetylglucosamine (GlcNAc) transferase ISO protein:increased expression:heart left ventricle (rat) RGD PMID:22128088 RGD:9590202 NCBI chr  X:71,533,104...71,575,892
Ensembl chr  X:71,533,087...71,575,892
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase treatment ISO associated with Hypertension RGD PMID:24388463 PMID:28503736 PMID:22406748 RGD:7800726, RGD:12910714, RGD:7800697 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
G PAK1 p21 (RAC1) activated kinase 1 ISO RGD PMID:22082674 RGD:11533929 NCBI chr11:77,322,017...77,530,009
Ensembl chr11:77,322,017...77,474,635
JBrowse link
G PARP2 poly(ADP-ribose) polymerase 2 treatment ISO RGD PMID:25281201 RGD:13514043 NCBI chr14:20,343,635...20,357,904
Ensembl chr14:20,343,615...20,357,904
JBrowse link
G PDE5A phosphodiesterase 5A treatment ISO RGD PMID:15665834 RGD:1581008 NCBI chr 4:119,494,403...119,628,804
Ensembl chr 4:119,494,397...119,628,804
JBrowse link
G PDE9A phosphodiesterase 9A treatment ISO RGD PMID:33464954 PMID:28649129 PMID:25799991 RGD:242905185, RGD:241060360, RGD:240550109 NCBI chr21:42,653,621...42,775,509
Ensembl chr21:42,653,621...42,775,509
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO associated with Hypertension;protein:increased expression:heart RGD PMID:11973598 RGD:2292215 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:12963636 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
JBrowse link
G PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 ISO RGD PMID:23487407 RGD:8693424 NCBI chr19:9,835,318...9,849,689
Ensembl chr19:9,835,257...9,849,689
JBrowse link
G PLAU plasminogen activator, urokinase treatment ISO RGD PMID:22160250 RGD:7241558 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
JBrowse link
G PLD1 phospholipase D1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15988127 NCBI chr 3:171,600,404...171,810,483
Ensembl chr 3:171,600,404...171,810,950
JBrowse link
G PLD2 phospholipase D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15988127 NCBI chr17:4,807,152...4,823,430
Ensembl chr17:4,807,152...4,823,434
JBrowse link
G PLPP3 phospholipid phosphatase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28982073 NCBI chr 1:56,494,761...56,579,563
Ensembl chr 1:56,494,761...56,645,301
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:1965992 PMID:2821097 PMID:6088243 PMID:8279378 PMID:8381257 More... NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G POSTN periostin severity ISO mRNA,protein:increased expression:left ventricle: RGD PMID:16414453 RGD:10040951 NCBI chr13:37,562,585...37,598,768
Ensembl chr13:37,562,583...37,598,844
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha EXP CTD Direct Evidence: therapeutic CTD PMID:22198280 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
JBrowse link
G PPARD peroxisome proliferator activated receptor delta ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20075336 PMID:15728586 RGD:1580656 NCBI chr 6:35,342,558...35,428,178
Ensembl chr 6:35,342,558...35,428,191
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO protein:increased expression:myocardium of left ventricle (rat) RGD PMID:22105890 PMID:14726475 RGD:7242192, RGD:10053662 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:12515860 PMID:21273244 RGD:734902, RGD:401940178 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278
JBrowse link
G PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 EXP CTD Direct Evidence: therapeutic CTD PMID:18812163 NCBI chr 1:56,645,314...56,715,335
Ensembl chr 1:56,645,314...56,715,335
JBrowse link
G PRKCA protein kinase C alpha ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21565836 PMID:15792354 RGD:1581271 NCBI chr17:66,302,613...66,810,743
Ensembl chr17:66,302,613...66,810,743
JBrowse link
G PRKCB protein kinase C beta ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17121852 PMID:12887134 RGD:1581276 NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611
JBrowse link
G PRKCD protein kinase C delta ISO associated with Hypertension RGD PMID:15792354 RGD:1581271 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PRKCE protein kinase C epsilon ISO RGD PMID:15792354 RGD:1581271 NCBI chr 2:45,651,279...46,187,990
Ensembl chr 2:45,651,345...46,187,990
JBrowse link
G PRKCZ protein kinase C zeta EXP CTD Direct Evidence: therapeutic CTD PMID:27094369 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
JBrowse link
G PRKD1 protein kinase D1 ameliorates ISO
IMP
protein:increased phosphorylation:heart left ventricle (rat)
protein:increased activity:heart (mouse)
human gene in a mouse model
RGD PMID:18287012 PMID:36172952 PMID:16648482 PMID:24161911 PMID:16648482 RGD:307436945, RGD:329322877, RGD:243065275, RGD:243048462, RGD:243065275 NCBI chr14:29,576,479...29,927,847
Ensembl chr14:29,576,479...30,191,898
JBrowse link
G PTEN phosphatase and tensin homolog ISO RGD PMID:11448956 PMID:16188065 RGD:1581282, RGD:2292549 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PYGM glycogen phosphorylase, muscle associated ISO mRNA:increased expression:cardiocyte RGD PMID:14618266 RGD:1599987 NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974
JBrowse link
G RAC1 Rac family small GTPase 1 ISO RGD PMID:16651530 PMID:16698001 RGD:1581293 RGD:1581294 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
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 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
JBrowse link
G RAMP2 receptor activity modifying protein 2 ISO RGD PMID:15680493 RGD:1642686 NCBI chr17:42,761,227...42,763,041
Ensembl chr17:42,758,447...42,763,041
JBrowse link
G RAPGEF3 Rap guanine nucleotide exchange factor 3 susceptibility ISO protein:increased expression:left ventricle myocardium (rat) RGD PMID:25411381 PMID:18323524 RGD:9850089, RGD:9835356 NCBI chr12:47,734,363...47,758,880
Ensembl chr12:47,734,363...47,771,040
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO RGD PMID:18420946 RGD:9686423 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17121852 NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139
JBrowse link
G RBM10 RNA binding motif protein 10 ISO protein:decreased expression:heart RGD PMID:30257214 RGD:151667449 NCBI chr  X:47,145,221...47,186,813
Ensembl chr  X:47,145,221...47,186,813
JBrowse link
G RBP4 retinol binding protein 4 ameliorates ISO RGD PMID:25911613 RGD:329845871 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
JBrowse link
G RCAN1 regulator of calcineurin 1 ISO RGD PMID:12515860 RGD:734902 NCBI chr21:34,516,442...34,615,113
Ensembl chr21:34,513,142...34,615,113
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit treatment ISO RGD PMID:15749748 PMID:15728586 RGD:1581122, RGD:1580656 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
JBrowse link
G REN renin ISO
EXP
mRNA:increased expression:heart, kidney (mouse)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20429690 PMID:20811386 PMID:15367398 RGD:6771378 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
JBrowse link
G RHOA ras homolog family member A 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 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998
JBrowse link
G ROCK2 Rho associated coiled-coil containing protein kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 2:11,179,759...11,345,437
Ensembl chr 2:11,179,759...11,348,330
JBrowse link
G RPPH1 ribonuclease P RNA component H1 ISO RNA:increased expression:heart left ventricle (mouse) RGD PMID:27317124 RGD:243048444 NCBI chr14:20,343,071...20,343,411
Ensembl chr14:20,343,075...20,343,407
JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased threonine phosphorylation:heart left ventricle RGD PMID:16540832 RGD:1642998 NCBI chr17:59,893,121...59,950,574
Ensembl chr17:59,893,046...59,950,574
JBrowse link
G RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18056528 PMID:18056528 RGD:2311701 NCBI chr16:66,921,685...66,925,535
Ensembl chr16:66,921,685...66,925,535
JBrowse link
G S100A1 S100 calcium binding protein A1 ISO RGD PMID:12619862 RGD:735233 NCBI chr 1:153,628,434...153,632,039
Ensembl chr 1:153,627,926...153,632,039
JBrowse link
G S1PR1 sphingosine-1-phosphate receptor 1 ISO RGD PMID:11549339 RGD:1357201 NCBI chr 1:101,236,899...101,242,313
Ensembl chr 1:101,236,865...101,243,713
JBrowse link
G SHC1 SHC adaptor protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19168439 NCBI chr 1:154,962,298...154,974,376
Ensembl chr 1:154,962,298...154,974,395
JBrowse link
G SIRT1 sirtuin 1 treatment ISO RGD PMID:25281201 RGD:13514043 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G SIRT4 sirtuin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27099261 NCBI chr12:120,291,780...120,313,249
Ensembl chr12:120,302,316...120,313,249
JBrowse link
G SIRT6 sirtuin 6 ISO
EXP
CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:22335191 PMID:35798905 PMID:22335191 RGD:9586060 NCBI chr19:4,174,109...4,182,563
Ensembl chr19:4,174,109...4,182,566
JBrowse link
G SLC25A4 solute carrier family 25 member 4 treatment ISO associated with Hypertension RGD PMID:17210842 RGD:9681469 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
JBrowse link
G SLC2A4 solute carrier family 2 member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22221582 NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO associated with Anemia, Hemolytic RGD PMID:17056673 RGD:10450496 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G SLC8A1 solute carrier family 8 member A1 ISO associated with Hypertension;protein:decreased activity:heart left ventricle, cardiac muscle cell
protein:increased serine phosphorylation:heart
RGD PMID:15615841 PMID:17446477 RGD:1642713, RGD:1642725 NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19293248 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SOX4 SRY-box transcription factor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:15534078 RGD:1581339 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18194989 NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050
JBrowse link
G SRD5A1 steroid 5 alpha-reductase 1 IEP mRNA:increased expression:heart left ventricle (human) RGD PMID:12374776 RGD:4891966 NCBI chr 5:6,633,440...6,674,386
Ensembl chr 5:6,633,290...6,676,539
JBrowse link
G SRF serum response factor IDA RGD PMID:12909581 RGD:1581425 NCBI chr 6:43,171,269...43,181,506
Ensembl chr 6:43,171,269...43,181,506
JBrowse link
G SRI sorcin ISO RGD PMID:11485922 RGD:7327201 NCBI chr 7:88,205,115...88,226,976
Ensembl chr 7:88,205,115...88,226,993
JBrowse link
G SRSF1 serine and arginine rich splicing factor 1 treatment ISO RGD PMID:26619200 RGD:401940196 NCBI chr17:57,989,038...58,007,246
Ensembl chr17:58,000,919...58,007,346
JBrowse link
G STAR steroidogenic acute regulatory protein ISO mRNA:increased expression:cardiac muscle tissue (rat) RGD PMID:19349910 RGD:4145630 NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992
JBrowse link
G STAT3 signal transducer and activator of transcription 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10618415 PMID:19299911 PMID:24448315 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
JBrowse link
G STK11 serine/threonine kinase 11 ISO protein:decreased expression:heart RGD PMID:17098823 RGD:1601391 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G STOX1 storkhead box 1 IMP associated with Pre-Eclampsia; human gene fetally expressed in a mouse model RGD PMID:26758611 RGD:11553897 NCBI chr10:68,827,531...68,895,432
Ensembl chr10:68,827,531...68,895,432
JBrowse link
G TBX20 T-box transcription factor 20 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO mRNA, protein:increased expression:heart RGD PMID:15542404 RGD:1581939 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO RGD PMID:10067796 RGD:2290471 NCBI chr 3:12,153,068...12,158,912
Ensembl chr 3:12,153,068...12,158,912
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:15302781 PMID:17337591 PMID:18034274 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNNT2 troponin T2, cardiac type EXP CTD Direct Evidence: marker/mechanism CTD PMID:17556660 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764
JBrowse link
G TOMM70 translocase of outer mitochondrial membrane 70 ISO protein:decreased expression:left ventricle myocardium
protein:decreased expression:heart
RGD PMID:25022898 PMID:25022898 RGD:13464131, RGD:13464131 NCBI chr 3:100,363,431...100,401,089
Ensembl chr 3:100,363,431...100,401,089
JBrowse link
G TRIM44 tripartite motif containing 44 ameliorates ISO
IEP
mRNA,protein:increased expression:heart
mRNA:increased expression:heart
RGD PMID:35855640 PMID:35855640 PMID:35855640 RGD:329961579, RGD:329961579, RGD:329961579 NCBI chr11:35,662,775...35,818,007
Ensembl chr11:35,662,775...35,818,007
JBrowse link
G TRIM63 tripartite motif containing 63 EXP CTD Direct Evidence: therapeutic CTD PMID:19168726 NCBI chr 1:26,051,301...26,067,630
Ensembl chr 1:26,051,301...26,068,436
JBrowse link
G TRPC1 transient receptor potential cation channel subfamily C member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17174323 NCBI chr 3:142,724,034...142,807,888
Ensembl chr 3:142,724,034...142,807,888
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO mRNA:increased expression:heart RGD PMID:23212367 RGD:7247443 NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 ISO mRNA:increased expression:heart RGD PMID:16966582 RGD:10003036 NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
JBrowse link
G UBTF upstream binding transcription factor ISO RGD PMID:12885411 RGD:1580791 NCBI chr17:44,205,040...44,221,304
Ensembl chr17:44,205,033...44,221,626
JBrowse link
G UCP2 uncoupling protein 2 EXP CTD Direct Evidence: therapeutic CTD PMID:25703824 NCBI chr11:73,974,672...73,983,202
Ensembl chr11:73,974,672...73,982,843
JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr 9:111,896,814...111,935,369
Ensembl chr 9:111,896,814...111,935,369
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:12665660 RGD:401784499 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G VLDLR very low density lipoprotein receptor ISO associated with Hypertension; mRNA:decreased expression:heart ventricle RGD PMID:8603509 RGD:1625579 NCBI chr 9:2,621,787...2,660,056
Ensembl chr 9:2,621,182...2,660,056
JBrowse link
G YY1 YY1 transcription factor ISO RGD PMID:15567155 RGD:1580832 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942
JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 IAGP
EXP
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 More... NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774
JBrowse link
G FXR1 FMR1 autosomal homolog 1 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 3:180,912,670...180,982,753
Ensembl chr 3:180,868,141...180,982,753
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 FPGT-TNNI3K FPGT-TNNI3K readthrough IAGP ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy
ClinVar Annotator: match by term: TNNI3K-related condition
ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition
ClinVar PMID:16199547 PMID:24925317 PMID:25741868 PMID:25791106 PMID:28492532 More... NCBI chr 1:74,198,242...74,544,428
Ensembl chr 1:74,198,235...74,544,393
JBrowse link
G LMNA lamin A/C IAGP DNA:missense mutations:cds:multiple (human) RGD PMID:10580070 RGD:11066902 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G LRRC53 leucine rich repeat containing 53 IAGP ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition
ClinVar PMID:25741868 PMID:28492532 PMID:30010057 PMID:34203974 NCBI chr 1:74,469,376...74,537,079
Ensembl chr 1:74,469,376...74,512,611
JBrowse link
G TNNI3K TNNI3 interacting kinase IAGP ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy
ClinVar Annotator: match by term: TNNI3K-related condition
ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition
ClinVar
OMIM
PMID:16199547 PMID:24925317 PMID:25741868 PMID:25791106 PMID:28492532 More... NCBI chr 1:74,235,387...74,544,428
Ensembl chr 1:74,235,387...74,544,428
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP6 bone morphogenetic protein 6 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma ClinVar PMID:28492532 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728
JBrowse link
G DSP desmoplakin IAGP
ISS
EXP
ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma
ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
OMIM:605676
ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
OMIM
CTD
PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
JBrowse link
G DSP-AS1 DSP antisense RNA 1 IAGP ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
ClinVar PMID:9536098 PMID:16199547 PMID:16917092 PMID:17576681 PMID:20129281 More... NCBI chr 6:7,540,451...7,543,083
Ensembl chr 6:7,540,447...7,543,114
JBrowse link
G LOC110121274 VISTA enhancer hs2191 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma ClinVar PMID:28492532 NCBI chr 6:7,560,927...7,562,502 JBrowse link
G SNRNP48 small nuclear ribonucleoprotein U11/U12 subunit 48 IAGP ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr 6:7,590,198...7,611,967
Ensembl chr 6:7,590,198...7,611,967
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN2 actinin alpha 2 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631
JBrowse link
G ANK2 ankyrin 2 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:16253912 PMID:22581653 PMID:25351510 PMID:25741868 PMID:26771585 More... NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261
JBrowse link
G CALM1 calmodulin 1 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:23040497 PMID:23388215 PMID:24563457 PMID:24816216 PMID:25557436 More... NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
JBrowse link
G CASQ2 calsequestrin 2 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 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: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
ClinVar PMID:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 More... NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,793,195
JBrowse link
G DMPK DM1 protein kinase IAGP ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY ClinVar NCBI chr19:45,769,717...45,782,490
Ensembl chr19:45,769,709...45,782,552
JBrowse link
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351
JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 PMID:33552729 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
JBrowse link
G FPGT-TNNI3K FPGT-TNNI3K readthrough IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 ClinVar PMID:25741868 NCBI chr 1:74,198,242...74,544,428
Ensembl chr 1:74,198,235...74,544,393
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939
JBrowse link
G LINC01649 long intergenic non-protein coding RNA 1649 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 1:115,919,376...115,925,908
Ensembl chr 1:115,904,855...115,931,616
JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY ClinVar PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:15843404 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G LOC126806067 BRD4-independent group 4 enhancer GRCh37_chr1:237753258-237754457 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 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, STRESS-INDUCED POLYMORPHIC 1
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar PMID:19926015 PMID:24033266 PMID:25741868 PMID:26114861 PMID:28404607 More... NCBI chr 1:237,589,958...237,591,157 JBrowse link
G LOC126806068 BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar PMID:11157710 PMID:12459180 PMID:15197150 PMID:16239587 PMID:18092949 More... NCBI chr 1:237,784,111...237,785,310 JBrowse link
G LOC129389631 MPRA-validated peak6085 silencer IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 6:123,363,951...123,364,151 JBrowse link
G MAB21L3 mab-21 like 3 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 1:116,111,399...116,138,149
Ensembl chr 1:116,111,399...116,138,149
JBrowse link
G MT1HL1 metallothionein 1H like 1 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 1:237,004,103...237,004,441
Ensembl chr 1:237,004,103...237,004,441
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278
JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28600387 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
JBrowse link
G NHLH2 nescient helix-loop-helix 2 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917
JBrowse link
G RYR2 ryanodine receptor 2 IAGP
ISS
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 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, STRESS-INDUCED POLYMORPHIC 1
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
OMIM:604772
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 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, STRESS-INDUCED POLYMORPHIC 1
ClinVar
MouseDO
OMIM
PMID:285698 PMID:1817325 PMID:1992601 PMID:8589694 PMID:9536098 More... NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar PMID:15840476 PMID:19841300 PMID:20129283 PMID:22581653 PMID:23805106 More... NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
JBrowse link
G SLC22A15 solute carrier family 22 member 15 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 1:115,976,513...116,070,054
Ensembl chr 1:115,976,513...116,070,054
JBrowse link
G TNNI3K TNNI3 interacting kinase IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 ClinVar PMID:25741868 NCBI chr 1:74,235,387...74,544,428
Ensembl chr 1:74,235,387...74,544,428
JBrowse link
G TRDN triadin IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 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, STRESS-INDUCED POLYMORPHIC 1
ClinVar PMID:9536098 PMID:10497235 PMID:16199547 PMID:17576681 PMID:19403623 More... NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189
JBrowse link
G TRDN-AS1 TRDN antisense RNA 1 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:123,439,604...123,471,756
Ensembl chr 6:123,389,421...123,511,509
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224
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 IAGP ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 OMIM
ClinVar
PMID:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 More... NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624
JBrowse link
G LOC126807632 CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:180046831-180048030 IAGP ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 ClinVar PMID:25741868 NCBI chr 5:180,619,831...180,621,030 JBrowse link
dilated cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 susceptibility IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic
ClinVar
RGD
PMID:12166651 PMID:20474083 PMID:24033266 PMID:24439875 PMID:25741868 More... RGD:1300328 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
JBrowse link
G ABRA actin binding Rho activating protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chr 8:106,759,483...106,770,244
Ensembl chr 8:106,759,483...106,770,244
JBrowse link
G AC009264.1 novel transcript, antisense to CHRM2 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:23408450 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:136,898,773...137,164,341
Ensembl chr 7:136,685,559...137,182,107
JBrowse link
G AC106897.1 novel transcript, antisense to CCDC110 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,471,431...185,472,263
Ensembl chr 4:185,471,461...185,507,055
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:9599005 PMID:18227065 PMID:21932095 PMID:25087612 PMID:25741868 More... NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
JBrowse link
G ACE angiotensin I converting enzyme no_association IAGP DNA:insertion/deletion:intron RGD PMID:9270088 RGD:1566491 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:25741868 PMID:30354303 PMID:32746448 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G ACTC1 actin alpha cardiac muscle 1 susceptibility EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Left ventricular noncompaction 4
DNA:point mutations: :p.Arg312His, p.Glu361Gly (human)
CTD
ClinVar
RGD
PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 More... RGD:1559158 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589
JBrowse link
G ACTN2 actinin alpha 2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:14567970 PMID:17097056 PMID:20022194 PMID:23299917 PMID:23861362 More... NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631
JBrowse link
G ADRB1 adrenoceptor beta 1 EXP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9554809 PMID:18287209 RGD:5129132 NCBI chr10:114,043,866...114,046,904
Ensembl chr10:114,043,866...114,046,904
JBrowse link
G ADRB2 adrenoceptor beta 2 EXP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11986409 PMID:18287209 RGD:5129132 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
JBrowse link
G AFF4 ALF transcription elongation factor 4 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
JBrowse link
G AGT angiotensinogen treatment
no_association
ISO
IAGP
DNA:polymorphisms: :p.T174M, p.M235T (human) RGD PMID:22120037 PMID:9270088 RGD:8549486, RGD:1566491 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
JBrowse link
G AGTR1 angiotensin II receptor type 1 treatment ISO RGD PMID:20886512 PMID:22120037 RGD:5129198, RGD:8549486 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G AGTR2 angiotensin II receptor type 2 IEP
ISO
mRNA, protein:increased expression:heart left ventricle RGD PMID:9815151 PMID:22120037 RGD:6903900, RGD:8549486 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974
JBrowse link
G AKAP9 A-kinase anchoring protein 9 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:31418098 NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
JBrowse link
G ALDOA aldolase, fructose-bisphosphate A IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457
JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:22447358 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
JBrowse link
G ANK2 ankyrin 2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28341588 PMID:28492532 PMID:30415094 More... NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G ANKRD1 ankyrin repeat domain 1 IAGP DNA:missense mutations:multiple (human)
ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar
RGD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18273862 PMID:19525294 More... RGD:5133277 NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087
JBrowse link
G ANKRD37 ankyrin repeat domain 37 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,396,841...185,400,723
Ensembl chr 4:185,396,021...185,400,628
JBrowse link
G APOE apolipoprotein E susceptibility IAGP RGD PMID:16714771 RGD:1601240 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G ASPHD1 aspartate beta-hydroxylase domain containing 1 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:29,900,363...29,919,864
Ensembl chr16:29,900,375...29,919,864
JBrowse link
G ATM ATM serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24358288 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
JBrowse link
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:28,878,488...28,904,466
Ensembl chr16:28,878,405...28,904,466
JBrowse link
G AXIN2 axin 2 EXP
ISO
CTD Direct Evidence: marker/mechanism
protein:decreased expression:lung
CTD
RGD
PMID:29394407 PMID:33092439 RGD:151356921 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G BAG3 BAG cochaperone 3 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic
ClinVar PMID:2159883 PMID:21353195 PMID:21459883 PMID:21898660 PMID:22337857 More... NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:23980359 PMID:26004897 RGD:10054117, RGD:13782348 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCKDK branched chain keto acid dehydrogenase kinase IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:31,108,386...31,117,640
Ensembl chr16:31,106,107...31,112,791
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO RGD PMID:26004897 RGD:13782348 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BCL2L1 BCL2 like 1 ISO RGD PMID:26004897 RGD:13782348 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
JBrowse link
G BCL7C BAF chromatin remodeling complex subunit BCL7C IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:30,833,626...30,894,077
Ensembl chr16:30,833,626...30,894,302
JBrowse link
G BOLA2 bolA family member 2 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:29,453,588...29,454,964
Ensembl chr16:30,192,932...30,194,306
Ensembl chr16:30,192,932...30,194,306
JBrowse link
G BOLA2B bolA family member 2B IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:30,192,932...30,193,666
Ensembl chr16:30,192,932...30,194,306
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G C16orf54 chromosome 16 open reading frame 54 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:29,742,463...29,745,990
Ensembl chr16:29,742,463...29,745,990
JBrowse link
G C16orf92 chromosome 16 open reading frame 92 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:30,023,198...30,027,736
Ensembl chr16:30,023,198...30,027,736
JBrowse link
G C2orf49 chromosome 2 open reading frame 49 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25358972 More... NCBI chr 2:105,337,540...105,385,899
Ensembl chr 2:105,337,532...105,349,211
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
JBrowse link
G CACNA1C-AS1 CACNA1C antisense RNA 1 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:23677916 PMID:24033266 PMID:25184293 PMID:25741868 PMID:28492532 More... NCBI chr12:2,676,001...2,691,157
Ensembl chr12:2,676,001...2,691,200
JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557
JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 susceptibility IAGP DNA:SNPs:introns: RGD PMID:29495422 RGD:13515053 NCBI chr 2:151,832,771...152,099,167
Ensembl chr 2:151,832,771...152,099,167
JBrowse link
G CACNG8 calcium voltage-gated channel auxiliary subunit gamma 8 IEP mRNA,protein:decreased expression:left ventricule: RGD PMID:26710323 RGD:11353143 NCBI chr19:53,962,937...53,990,215
Ensembl chr19:53,962,937...53,990,215
JBrowse link
G CALR3 calreticulin 3 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29988065 NCBI chr19:16,479,061...16,496,167
Ensembl chr19:16,479,061...16,496,167
JBrowse link
G CAP2 cyclase associated actin cytoskeleton regulatory protein 2 ISS MouseDO NCBI chr 6:17,393,595...17,557,780
Ensembl chr 6:17,393,595...17,557,780
JBrowse link
G CASP3 caspase 3 ISO RGD PMID:26004897 RGD:13782348 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
JBrowse link
G CASP8 caspase 8 ISO RGD PMID:26004897 RGD:13782348 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836
JBrowse link
G CASP9 caspase 9 ISO RGD PMID:26004897 RGD:13782348 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
JBrowse link
G CASQ2 calsequestrin 2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:20530761 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,793,195
JBrowse link
G CASZ1 castor zinc finger 1 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
JBrowse link
G CAT catalase IEP RGD PMID:10652196 RGD:1581150 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CCDC110 coiled-coil domain containing 110 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:28492532 NCBI chr 4:185,445,182...185,471,733
Ensembl chr 4:185,445,182...185,471,752
JBrowse link
G CD19 CD19 molecule IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
JBrowse link
G CD27 CD27 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr12:6,443,892...6,451,713
Ensembl chr12:6,444,955...6,451,718
JBrowse link
G CD2BP2 CD2 cytoplasmic tail binding protein 2 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:30,350,773...30,355,308
Ensembl chr16:30,350,773...30,355,308
JBrowse link
G CD36 CD36 molecule (CD36 blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:10981864 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G CD40 CD40 molecule IEP RGD PMID:9495297 RGD:13702889 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G CD70 CD70 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr19:6,581,648...6,591,150
Ensembl chr19:6,583,183...6,604,103
JBrowse link
G CDH2 cadherin 2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946
JBrowse link
G CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:29,858,357...29,863,226
Ensembl chr16:29,858,357...29,863,414
JBrowse link
G CDK8 cyclin dependent kinase 8 susceptibility IAGP DNA:SNPs, haplotype:intron: (rs17083838, rs7992670) (human) RGD PMID:34815954 RGD:155260314 NCBI chr13:26,254,129...26,405,238
Ensembl chr13:26,254,104...26,420,982
JBrowse link
G CENPF centromere protein F ISS MouseDO NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,185...214,664,574
JBrowse link
G CEP85L centrosomal protein 85 like IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:12610310 PMID:12639993 PMID:16235537 PMID:16897780 PMID:17655857 More... NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075
JBrowse link
G CFAP119 cilia and flagella associated protein 119 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:30,757,423...30,762,062
Ensembl chr16:30,757,423...30,762,221
JBrowse link
G CFAP96 cilia and flagella associated protein 96 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,408,434...185,449,826
Ensembl chr 4:185,426,249...185,449,826
JBrowse link
G CFAP97 cilia and flagella associated protein 97 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,159,665...185,210,248
Ensembl chr 4:185,159,665...185,209,504
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G CHRM2 cholinergic receptor muscarinic 2 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:23408450 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:136,868,652...137,020,213
Ensembl chr 7:136,868,652...137,020,255
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COMT catechol-O-methyltransferase IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:25741868 PMID:28492532 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G CORO1A coronin 1A IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:30,183,602...30,189,076
Ensembl chr16:30,182,827...30,189,076
JBrowse link
G COX7A1 cytochrome c oxidase subunit 7A1 ISS MouseDO NCBI chr19:36,150,922...36,152,447
Ensembl chr19:36,150,922...36,152,449
JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO RGD PMID:9616213 RGD:734815 NCBI chr 2:207,529,962...207,605,988
Ensembl chr 2:207,529,737...207,605,988
JBrowse link
G CRYAB crystallin alpha B IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:19597569 PMID:26402864 PMID:28492532 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722
JBrowse link
G CS citrate synthase IDA RGD PMID:10354207 PMID:8252591 RGD:243048483, RGD:243048472 NCBI chr12:56,271,699...56,300,330
Ensembl chr12:56,271,699...56,300,391
JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: therapeutic CTD PMID:17334414 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CSRNP1 cysteine and serine rich nuclear protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chr 3:39,141,855...39,154,641
Ensembl chr 3:39,141,855...39,154,562
JBrowse link
G CSRP3 cysteine and glycine rich protein 3 ISO
IAGP
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
DNA:missense mutation:cds:p.W4R (human)
ClinVar
RGD
PMID:9039266 PMID:12507422 PMID:14567970 PMID:15781201 PMID:16352453 More... RGD:734841, RGD:734841 NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571
JBrowse link
G CSRP3-AS1 CSRP3 and E2F8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar NCBI chr11:19,196,713...19,313,258
Ensembl chr11:19,196,775...19,281,426
JBrowse link
G CTF1 cardiotrophin 1 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar
RGD
PMID:11058912 PMID:24033266 PMID:25741868 PMID:26084686 PMID:27149842 More... RGD:1626410 NCBI chr16:30,895,846...30,903,560
Ensembl chr16:30,896,614...30,903,547
JBrowse link
G CTNNA3 catenin alpha 3 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr10:65,912,523...67,763,594
Ensembl chr10:65,912,457...67,763,637
JBrowse link
G CTNNB1 catenin beta 1 EXP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:29394407 PMID:20376467 RGD:13524857 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G CTSL cathepsin L ISS MouseDO NCBI chr 9:87,726,119...87,731,469
Ensembl chr 9:87,724,051...87,731,469
JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO mRNA:increased expression:left ventricle myocardium RGD PMID:20868517 RGD:5134996 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15322218 RGD:1598502 NCBI chr  X:71,615,919...71,618,511
Ensembl chr  X:71,615,916...71,618,511
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IEP mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 IEP mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr10:94,762,681...94,855,547
Ensembl chr10:94,762,681...94,855,547
JBrowse link
G DAG1 dystroglycan 1 ISS MouseDO NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618
JBrowse link
G DCTPP1 dCTP pyrophosphatase 1 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:30,423,615...30,430,030
Ensembl chr16:30,423,615...30,430,030
JBrowse link
G DES desmin ISO
IAGP
IEP
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
DNA:mutation:cds:c.679C>T(p.R227C)(human)
protein:altered expression:cardiomyocyte:
ClinVar
RGD
PMID:9382102 PMID:9536098 PMID:10717012 PMID:11073539 PMID:12620971 More... RGD:13525010, RGD:13592594, RGD:13542087 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
JBrowse link
G DGKD diacylglycerol kinase delta IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 2:233,354,494...233,472,098
Ensembl chr 2:233,354,494...233,472,104
JBrowse link
G DICER1 dicer 1, ribonuclease III ISS MouseDO NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010
JBrowse link
G DMD dystrophin severity IAGP
IEP
ISO
EXP
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:myocardium
ClinVar
CTD
RGD
PMID:11496434 PMID:12359139 PMID:16770791 PMID:19409785 PMID:19937601 More... RGD:1580858, RGD:13702900, RGD:12880034, RGD:6771365 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609
JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722
JBrowse link
G DNAAF3-AS1 DNAAF3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:55,159,309...55,166,904 JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr  X:154,401,236...154,412,101
Ensembl chr  X:154,401,236...154,412,112
JBrowse link
G DNM1L dynamin 1 like ISS MouseDO NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
JBrowse link
G DOC2A double C2 domain alpha IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:30,005,514...30,023,228
Ensembl chr16:30,005,514...30,023,270
JBrowse link
G DOLK dolichol kinase IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 9:128,945,530...128,947,603
Ensembl chr 9:128,945,530...128,947,603
JBrowse link
G DPP6 dipeptidyl peptidase like 6 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr 7:153,748,133...154,894,285
Ensembl chr 7:153,748,133...154,894,285
JBrowse link
G DSC2 desmocollin 2 IAGP
ISO
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
protein:increased expression:heart (rat)
ClinVar
RGD
PMID:205460 PMID:1245073 PMID:20400443 PMID:23514727 PMID:23911551 More... RGD:264347602 NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600
JBrowse link
G DSG2 desmoglein 2 IAGP
ISO
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
DNA:polymorphism:cds:c.209G > A (p.V55M)(human)
protein:increased expression:heart (rat)
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic
ClinVar
RGD
PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19569224 More... RGD:401851067, RGD:11064672, RGD:264347602 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351
JBrowse link
G DSG2-AS1 DSG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:20716751 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr18:31,542,146...31,556,911
Ensembl chr18:31,542,146...31,556,948
JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy
ClinVar
RGD
PMID:3198322 PMID:9536098 PMID:10594734 PMID:11063735 PMID:12101406 More... RGD:1580891 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
JBrowse link
G DSP-AS1 DSP antisense RNA 1 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25225338 PMID:25741868 PMID:26656175 PMID:27054166 PMID:28492532 More... NCBI chr 6:7,540,451...7,543,083
Ensembl chr 6:7,540,447...7,543,114
JBrowse link
G DTNA dystrobrevin alpha IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:34,493,312...34,891,844
Ensembl chr18:34,493,291...34,891,844
JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A severity ISO rat cDNA in mouse model RGD PMID:27056896 RGD:401959209 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
JBrowse link
G DYSF dysferlin IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:11468312 PMID:17070050 PMID:20623375 PMID:22194990 PMID:22910291 More... NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763
JBrowse link
G ECE1 endothelin converting enzyme 1 IEP RGD PMID:11145756 RGD:1580911 NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
JBrowse link
G EDN1 endothelin 1 severity IEP protein:increased expression:aorta, plasma (human) RGD PMID:10026353 RGD:8661756 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G EGFR epidermal growth factor receptor ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18599591 PMID:22646904 RGD:7204501 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G EGLN1 egl-9 family hypoxia inducible factor 1 ISO RGD PMID:18096761 RGD:11251770 NCBI chr 1:231,363,756...231,422,287
Ensembl chr 1:231,363,751...231,422,287
JBrowse link
G ELAC2 elaC ribonuclease Z 2 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:25741868 PMID:27769300 PMID:28492532 PMID:31045291 NCBI chr17:12,991,612...13,018,027
Ensembl chr17:12,991,612...13,018,065
JBrowse link
G EMD emerin IAGP DNA:deletion:cds:c.26_39delATACCGAGCTGACC(human)
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar
RGD
PMID:28492532 PMID:24997722 RGD:13592595 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO
ISS
IEP
MouseDO
RGD
PMID:12072561 PMID:15685397 RGD:734939, RGD:1580988 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G ESRRB estrogen related receptor beta ISS MouseDO NCBI chr14:76,310,777...76,501,837
Ensembl chr14:76,310,712...76,501,837
JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 IAGP DNA:deletion:introns, exon (human)
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar
RGD
PMID:10769282 PMID:15735644 PMID:17567890 PMID:24033266 PMID:15735644 RGD:1598455 NCBI chr 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128
JBrowse link
G FADS2 fatty acid desaturase 2 treatment IEP RGD PMID:24284026 RGD:401901245 NCBI chr11:61,816,203...61,867,354
Ensembl chr11:61,792,980...61,867,354
JBrowse link
G FAS Fas cell surface death receptor ISO
EXP
protein:increased expression:cardiocyte
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17943461 PMID:16761189 RGD:1600334 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand EXP CTD Direct Evidence: marker/mechanism CTD PMID:17943461 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FASN fatty acid synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr17:82,078,338...82,098,236
Ensembl chr17:82,078,338...82,098,294
JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
JBrowse link
G FBRS fibrosin IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:30,658,431...30,670,810
Ensembl chr16:30,658,431...30,670,810
JBrowse link
G FBXL19 F-box and leucine rich repeat protein 19 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:30,922,851...30,948,783
Ensembl chr16:30,923,055...30,948,783
JBrowse link
G FHL2 four and a half LIM domains 2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:9536098 PMID:16199547 PMID:17416352 PMID:17576681 PMID:24033266 More... NCBI chr 2:105,357,712...105,438,529
Ensembl chr 2:105,357,712...105,438,513
JBrowse link
G FHOD3 formin homology 2 domain containing 3 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088304 PMID:25741868 NCBI chr18:36,297,713...36,780,220
Ensembl chr18:36,297,713...36,780,220
JBrowse link
G FKRP fukutin related protein IAGP DNA:missense mutation:exon:p.L276I (826C>A) (human)
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar
RGD
PMID:11741828 PMID:16344347 PMID:17994539 PMID:18832576 PMID:22451200 More... RGD:11667064 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G FKTN fukutin IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:17597323 PMID:25741868 PMID:26633542 PMID:28492532 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
JBrowse link
G FLII FLII actin remodeling protein IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:10862770 PMID:20661277 PMID:25741868 PMID:32870709 PMID:37561591 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738
JBrowse link
G FLNC filamin C IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:9536098 PMID:15929027 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274
JBrowse link
G FLNC-AS1 FLNC antisense RNA 1 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | 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: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:9536098 PMID:15929027 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 7:128,850,162...128,862,626
Ensembl chr 7:128,850,162...128,862,626
JBrowse link
G FPGT-TNNI3K FPGT-TNNI3K readthrough IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:25741868 PMID:27618451 PMID:28492532 PMID:37199186 PMID:37325914 NCBI chr 1:74,198,242...74,544,428
Ensembl chr 1:74,198,235...74,544,393
JBrowse link
G FUS FUS RNA binding protein IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963
JBrowse link
G GAA alpha glucosidase IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881
JBrowse link
G GATA4 GATA binding protein 4 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:18076106 PMID:20874241 PMID:24033266 PMID:25741868 PMID:27374936 More... NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
JBrowse link
G GATA5 GATA binding protein 5 IAGP DNA:mutation:cds;c.719G>A(p.Gly240Asp)(human) RGD PMID:25543888 RGD:155260333 NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995
JBrowse link
G GATA6 GATA binding protein 6 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228
JBrowse link
G GCH1 GTP cyclohydrolase 1 IEP mRNA:decreased expression:endocardium RGD PMID:15698596 RGD:329970287 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
JBrowse link
G GCOM1 GCOM1, MYZAP-POLR2M combined locus IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:35840178 NCBI chr15:57,591,904...57,717,557
Ensembl chr15:57,591,908...57,714,745
JBrowse link
G GDF1 growth differentiation factor 1 IEP mRNA,protein:increased expression:heart (human) RGD PMID:24275554 RGD:11252017 NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158
JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:30,104,810...30,113,537
Ensembl chr16:30,104,810...30,113,537
JBrowse link
G GJA1 gap junction protein alpha 1 IEP
ISO
protein:decreased expression:heart (rat) RGD PMID:12619876 PMID:26708424 RGD:1582667, RGD:264347602 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G GJD2-DT GJD2 divergent transcript IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Left ventricular noncompaction 4
ClinVar PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 More... NCBI chr15:34,755,084...34,812,923
Ensembl chr15:34,755,084...34,813,505
JBrowse link
G GNAQ G protein subunit alpha q ISO
ISS
MouseDO
RGD
PMID:9811897 RGD:1598475 NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
JBrowse link
G GNB1L G protein subunit beta 1 like IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr22:19,783,223...19,854,874
Ensembl chr22:19,783,223...19,854,939
JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:32,106,620...32,168,709
Ensembl chr 3:32,105,689...32,168,709
JBrowse link
G GPX1 glutathione peroxidase 1 susceptibility IAGP
EXP
DNA:polymorphism: :p.P198L (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18940188 PMID:18940188 RGD:2306616 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605
JBrowse link
G GSK3A glycogen synthase kinase 3 alpha IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28701297 NCBI chr19:42,230,190...42,242,602
Ensembl chr19:42,226,225...42,242,625
JBrowse link
G GSK3B glycogen synthase kinase 3 beta IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 3:119,821,321...120,094,447
Ensembl chr 3:119,821,321...120,094,994
JBrowse link
G H19 H19 imprinted maternally expressed transcript ameliorates ISO RGD PMID:28430627 RGD:156430329 NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,166...2,004,552
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28341588 PMID:28492532 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
JBrowse link
G HDAC6 histone deacetylase 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35764897 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982
JBrowse link
G HFE homeostatic iron regulator susceptibility IAGP RGD PMID:11040018 RGD:1582687 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
JBrowse link
G HIRIP3 HIRA interacting protein 3 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:29,992,321...29,996,096
Ensembl chr16:29,992,330...29,996,074
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP RGD PMID:9220309 RGD:13702906 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HOPX HOP homeobox IEP mRNA:decreased expression:left ventricle RGD PMID:12920479 RGD:401793745 NCBI chr 4:56,647,998...56,681,706
Ensembl chr 4:56,647,989...56,681,877
JBrowse link
G HP haptoglobin IEP protein:increased expression RGD PMID:16360363 RGD:1626345 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:30,985,207...30,989,147
Ensembl chr16:30,985,207...30,989,147
JBrowse link
G IGF1 insulin like growth factor 1 IDA RGD PMID:11934830 RGD:1598419 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IL10 interleukin 10 ISO mRNA:decreased expression:heart left ventricle RGD PMID:19242323 RGD:2311057 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL13RA2 interleukin 13 receptor subunit alpha 2 IEP protein:increased expression:myocardium RGD PMID:18362439 RGD:2298568 NCBI chr  X:115,003,982...115,017,616
Ensembl chr  X:115,003,975...115,019,977
JBrowse link
G ILK integrin linked kinase IAGP
ISS
ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar
MouseDO
NCBI chr11:6,603,774...6,610,870
Ensembl chr11:6,603,708...6,610,874
JBrowse link
G INO80E INO80 complex subunit E IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:29,996,241...30,005,791
Ensembl chr16:29,995,715...30,005,793
JBrowse link
G IRF4 interferon regulatory factor 4 IEP protein:decreased expression:heart RGD PMID:23589561 RGD:11530060 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443
JBrowse link
G IRX5 iroquois homeobox 5 IEP mRNA:increased expression:heart left ventricle (human) RGD PMID:16753336 RGD:329950575 NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485
JBrowse link
G ISL1 ISL LIM homeobox 1 IAGP DNA:mutation:cds:c.631A>T(human) RGD PMID:30536204 RGD:243049244 NCBI chr 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730
JBrowse link
G ITGAL integrin subunit alpha L IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:30,472,742...30,523,185
Ensembl chr16:30,472,658...30,523,567
JBrowse link
G ITGB1 integrin subunit beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11884376 NCBI chr10:32,900,318...32,958,230
Ensembl chr10:32,887,273...33,005,792
JBrowse link
G ITGB1BP2 integrin subunit beta 1 binding protein 2 ISO RGD PMID:12496958 RGD:1582491 NCBI chr  X:71,301,750...71,305,371
Ensembl chr  X:71,301,750...71,305,371
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 no_association IDA RGD PMID:8567977 RGD:1556475 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
JBrowse link
G JPH2 junctophilin 2 ISO
IAGP
ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:30384889 PMID:30615648 PMID:15541368 RGD:1580652 NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188
JBrowse link
G JUP junction plakoglobin IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:20031617 PMID:20857253 PMID:21859740 PMID:23861362 PMID:24033266 More... NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931
JBrowse link
G KAT8 lysine acetyltransferase 8 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:31,117,664...31,131,393
Ensembl chr16:31,114,489...31,131,393
JBrowse link
G KCND3 potassium voltage-gated channel subfamily D member 3 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:111,770,662...111,989,668
Ensembl chr 1:111,770,662...111,989,668
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:30461122 PMID:35027292 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214
JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,364,006...34,371,381
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:15176425 PMID:16244680 PMID:22402334 PMID:22581653 PMID:25741868 More... NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
JBrowse link
G KCTD13 potassium channel tetramerization domain containing 13 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:29,906,339...29,926,226
Ensembl chr16:29,905,012...29,926,236
JBrowse link
G KIF22 kinesin family member 22 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO RGD PMID:15864294 RGD:1581757 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28416588 PMID:28492532 More... NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939
JBrowse link
G LAMA4-AS1 LAMA4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:112,236,596...112,306,683 JBrowse link
G LAMP2 lysosomal associated membrane protein 2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:21415759 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:120,426,148...120,469,349
Ensembl chr  X:120,426,148...120,469,365
JBrowse link
G LAT linker for activation of T cells IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr16:28,984,803...28,990,784
Ensembl chr16:28,984,826...28,990,784
JBrowse link
G LCK LCK proto-oncogene, Src family tyrosine kinase ISO RGD PMID:17711737 RGD:2316557 NCBI chr 1:32,251,265...32,286,165
Ensembl chr 1:32,251,244...32,286,165
JBrowse link
G LDB3 LIM domain binding 3 no_association IAGP DNA:missense mutation: :p.D117N (human)
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic
DNA:missense mutation: :p.D626N (human)
DNA:missense mutation:exon:p.S196L (human)
ClinVar
RGD
PMID:9536098 PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 More... RGD:11527732, RGD:1580827, RGD:11098950 NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072
JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO RGD PMID:16738313 RGD:11252001 NCBI chr 4:108,047,548...108,168,932
Ensembl chr 4:108,047,545...108,168,956
JBrowse link
G LEPR leptin receptor susceptibility IAGP DNA:missense mutation:CDS:p.Q223R (human) RGD PMID:19337797 RGD:2311129 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LMNA lamin A/C severity IAGP
EXP
ISO
DNA:missense mutations, deletion:cds:multiple (human)
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE
DNA:missense mutations, nonsense mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:mutation
associated with Muscular Dystrophy, Emery-Dreifuss;DNA:missense mutation:cds:p.H222P (mouse)
ClinVar
CTD
RGD
PMID:262236 PMID:2007407 PMID:2270059 PMID:2338570 PMID:2733290 More... RGD:1580515, RGD:11073137, RGD:2306091, RGD:2306094, RGD:2306092 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G LMOD2 leiomodin 2 ISS MouseDO NCBI chr 7:123,655,866...123,664,290
Ensembl chr 7:123,655,866...123,664,290
JBrowse link
G LOC105372791 uncharacterized LOC105372791 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr21:34,353,006...34,375,362 JBrowse link
G LOC110120888 VISTA enhancer hs515 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr22:19,761,833...19,762,532 JBrowse link
G LOC110121269 VISTA enhancer hs2177 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:12193783 PMID:12471205 PMID:14500339 PMID:15161528 PMID:15851227 More... NCBI chr 3:38,578,362...38,581,496 JBrowse link
G LOC110121486 VISTA enhancer hs2143 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:9536098 PMID:14662268 PMID:17576681 PMID:22464770 PMID:22619057 More... NCBI chr10:86,684,072...86,689,569 JBrowse link
G LOC114827850 VISTA enhancer hs2149 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr12:110,918,953...110,921,387 JBrowse link
G LOC114827851 VISTA enhancer hs2155 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:25741868 PMID:28416588 PMID:28492532 NCBI chr14:23,404,568...23,409,443 JBrowse link
G LOC121056754 OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:186239748-186240413 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,318,594...185,319,259 JBrowse link
G LOC123493248 Sharpr-MPRA regulatory region 940 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,293,995...185,294,289 JBrowse link
G LOC123493249 OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:186227325-186227825 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,306,171...185,306,671 JBrowse link
G LOC123493250 Sharpr-MPRA regulatory region 8879 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,457,155...185,457,449 JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:262236 PMID:10662742 PMID:10908904 PMID:11102973 PMID:11503164 More... NCBI chr 1:156,129,902...156,131,101 JBrowse link
G LOC126806067 BRD4-independent group 4 enhancer GRCh37_chr1:237753258-237754457 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:237,589,958...237,591,157 JBrowse link
G LOC126806068 BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:237,784,111...237,785,310 JBrowse link
G LOC126806420 BRD4-independent group 4 enhancer GRCh37_chr2:179401104-179402303 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 PMID:26467025 More... NCBI chr 2:178,536,377...178,537,576 JBrowse link
G LOC126806421 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179407630-179408829 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24033266 PMID:25589632 PMID:25741868 PMID:26516846 PMID:28492532 More... NCBI chr 2:178,542,903...178,544,102 JBrowse link
G LOC126806422 BRD4-independent group 4 enhancer GRCh37_chr2:179440205-179441404 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:23861362 PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 More... NCBI chr 2:178,575,478...178,576,677 JBrowse link
G LOC126806423 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179443309-179444508 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:22335739 PMID:23975875 PMID:24033266 PMID:25326635 PMID:25589632 More... NCBI chr 2:178,578,582...178,579,781 JBrowse link
G LOC126806424 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179456337-179457536 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chr 2:178,591,610...178,592,809 JBrowse link
G LOC126806425 BRD4-independent group 4 enhancer GRCh37_chr2:179471933-179473132 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:18414213 PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 More... NCBI chr 2:178,607,206...178,608,405 JBrowse link
G LOC126806426 BRD4-independent group 4 enhancer GRCh37_chr2:179478848-179480047 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:22335739 PMID:24033266 PMID:24503780 NCBI chr 2:178,614,121...178,615,320 JBrowse link
G LOC126806427 BRD4-independent group 4 enhancer GRCh37_chr2:179485777-179486976 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:22335739 PMID:23861362 PMID:23975875 PMID:24033266 PMID:24503780 More... NCBI chr 2:178,621,050...178,622,249 JBrowse link
G LOC126806428 BRD4-independent group 4 enhancer GRCh37_chr2:179588362-179589561 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23975875 PMID:25589632 PMID:27869827 PMID:28492532 PMID:31618753 More... NCBI chr 2:178,723,635...178,724,834 JBrowse link
G LOC126806429 BRD4-independent group 4 enhancer GRCh37_chr2:179591393-179592592 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:18414213 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 2:178,726,666...178,727,865 JBrowse link
G LOC126806430 BRD4-independent group 4 enhancer GRCh37_chr2:179593794-179594993 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:18414213 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr 2:178,729,067...178,730,266 JBrowse link
G LOC126806431 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179595719-179596918 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23478172 PMID:24033266 PMID:25741868 PMID:27066551 PMID:28492532 More... NCBI chr 2:178,730,992...178,732,191 JBrowse link
G LOC126806432 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179611985-179613184 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25589632 NCBI chr 2:178,747,258...178,748,457 JBrowse link
G LOC126806433 BRD4-independent group 4 enhancer GRCh37_chr2:179638309-179639508 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:178,773,582...178,774,781 JBrowse link
G LOC126807137 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:114276560-114277759 IAGP ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:113,355,404...113,356,603 JBrowse link
G LOC126807246 BRD4-independent group 4 enhancer GRCh37_chr4:186434842-186436041 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:9536098 PMID:17254821 PMID:17576681 PMID:24033266 PMID:28492532 NCBI chr 4:185,513,688...185,514,887 JBrowse link
G LOC126859766 MED14-independent group 3 enhancer GRCh37_chr6:112462018-112463217 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:112,140,816...112,142,015 JBrowse link
G LOC126859827 BRD4-independent group 4 enhancer GRCh37_chr6:149699707-149700906 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28386937 PMID:28492532 PMID:31250519 PMID:34906501 NCBI chr 6:149,378,571...149,379,770 JBrowse link
G LOC126860875 MED14-independent group 3 enhancer GRCh37_chr10:21105746-21106945 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29544605 NCBI chr10:20,816,817...20,818,016 JBrowse link
G LOC126861356 BRD4-independent group 4 enhancer GRCh37_chr11:118014519-118015718 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr11:118,143,804...118,145,003 JBrowse link
G LOC126861896 BRD4-independent group 4 enhancer GRCh37_chr14:23854904-23856103 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:23,385,695...23,386,894 JBrowse link
G LOC126861897 BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:15556047 PMID:18414213 PMID:21750094 PMID:23233322 PMID:24033266 More... NCBI chr14:23,415,246...23,416,445 JBrowse link
G LOC126861898 BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:16858239 PMID:18258667 PMID:18533079 PMID:20800588 PMID:21211974 More... NCBI chr14:23,424,400...23,425,599 JBrowse link
G LOC126863098 BRD4-independent group 4 enhancer GRCh37_chr22:19894389-19895588 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr22:19,906,866...19,908,065 JBrowse link
G LOC129931597 ATAC-STARR-seq lymphoblastoid silent region 1421 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar PMID:10080180 PMID:11102526 PMID:11138304 PMID:12854972 PMID:12920062 More... NCBI chr 1:156,114,934...156,115,023 JBrowse link
G LOC129932678 ATAC-STARR-seq lymphoblastoid silent region 1893 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar NCBI chr 1:226,870,419...226,871,018 JBrowse link
G LOC129935182 ATAC-STARR-seq lymphoblastoid active region 16807 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:25741868 More... NCBI chr 2:178,530,425...178,530,614 JBrowse link
G LOC129935183 ATAC-STARR-seq lymphoblastoid active region 16808 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:25741868 More... NCBI chr 2:178,530,645...178,531,034 JBrowse link
G LOC129935186 ATAC-STARR-seq lymphoblastoid active region 16811 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:23975875 PMID:25589632 PMID:28492532 NCBI chr 2:178,542,641...178,542,690 JBrowse link
G LOC129992585 ATAC-STARR-seq lymphoblastoid silent region 15421 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:12566530 PMID:15938573 PMID:25135358 PMID:25741868 PMID:25862795 More... NCBI chr 4:52,038,072...52,038,511 JBrowse link
G LOC129993502 ATAC-STARR-seq lymphoblastoid active region 22248 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,204,843...185,204,952 JBrowse link
G LOC129993503 ATAC-STARR-seq lymphoblastoid active region 22249 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,205,063...185,205,152 JBrowse link
G LOC129993504 ATAC-STARR-seq lymphoblastoid silent region 15849 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,209,297...185,209,876 JBrowse link
G LOC129993505 ATAC-STARR-seq lymphoblastoid silent region 15850 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,209,987...185,210,146 JBrowse link
G LOC129993506 ATAC-STARR-seq lymphoblastoid silent region 15851