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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Cardiomegaly
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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:5129174, RGD:155663352, RGD:11039415, RGD:8548902 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:21367774 PMID:11324571 PMID:10639182 RGD:5129174, RGD:10047105, RGD:737777 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 IDA
EXP		 human gene, mouse model
CTD Direct Evidence: therapeutic		 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 ISO
EXP		 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...104,795,751 		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 chr18:31,058,840...31,102,522 		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 chr18:31,498,177...31,549,008 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A treatment ISO protein:decreased expression:heart (rat) RGD PMID:24524606 PMID:19906449 PMID:26619200 RGD:401959210, RGD:401959215, RGD:401940196 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G EDN1 endothelin 1 severity ISO
EXP		 protein:increased expression:heart ventricle, plasma (rat)
CTD Direct Evidence: marker/mechanism		 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 chr22:41,092,592...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 EXP
ISO		 CTD Direct Evidence: marker/mechanism
protein:increased expression:heart left ventricle (mouse)		 CTD
RGD		 PMID:11901213 PMID:23969695 PMID:25982117 RGD:13792712, RGD:11052788 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 IEP
ISO		 RNA:decrased expression:blood serum (human)
RNA:increased expression:heart left ventricle (mouse)
RNA:increased expression:heart (mouse)		 RGD PMID:35139769 PMID:27317124 PMID:27084844 RGD:155260312, RGD:243048444, RGD:155882575 NCBI chr11:1,995,176...2,001,466
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 activity:heart:
CTD Direct Evidence: marker/mechanism
protein:increased acetylation:heart:		 CTD
RGD		 PMID:18625706 PMID:18849323 PMID:24526703 RGD:2306446, RGD:9590211 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:25504627 PMID:23868068 RGD:13208811, RGD:9681716 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 6:26,087,281...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 ISO
EXP		 mRNA, protein:increased expression:heart
CTD Direct Evidence: marker/mechanism		 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:32971071 PMID:28821620 PMID:34733837 PMID:26891723 PMID:35490166 More... RGD:155791643, RGD:155804266, RGD:155791674, RGD:11555743, RGD:155791668, RGD:155791650, RGD:155791649, RGD:155791647, 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		 CTD Direct Evidence: marker/mechanism
associated with Hypertension:protein:decreased expression:heart (rat)
mRNA, protein:decreased expression:heart (mouse)		 CTD
RGD		 PMID:17499311 PMID:28503736 PMID:27085127 PMID:27565029 PMID:27847271 RGD:12910714, RGD:12910835, RGD:12910768, RGD:12910764 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:11252017, RGD:155663352, RGD:11554891 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:22406748 PMID:28503736 PMID:24388463 RGD:7800697, RGD:12910714, RGD:7800726 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:25799991 PMID:33464954 PMID:28649129 RGD:240550109, RGD:242905185, RGD:241060360 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 activity:heart (mouse)
human gene in a mouse model
protein:increased phosphorylation:heart left ventricle (rat)		 RGD PMID:24161911 PMID:36172952 PMID:18287012 PMID:16648482 PMID:16648482 RGD:243048462, RGD:329322877, RGD:307436945, RGD:243065275, 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:16188065 PMID:11448956 RGD:2292549, RGD:1581282 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:18323524 PMID:25411381 RGD:9835356, RGD:9850089 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:15728586 PMID:15749748 RGD:1580656, RGD:1581122 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 IEP
ISO		 mRNA:increased expression:heart
mRNA,protein: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: 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 1:156,082,573...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
EXP		 ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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: Carvajal syndrome 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: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
OMIM:605676
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714 		JBrowse link
G DSP-AS1 DSP antisense RNA 1 IAGP ClinVar Annotator: match by term: Carvajal syndrome
ClinVar Annotator: match by term: Carvajal syndrome | 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 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 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1		 CTD
ClinVar		 PMID:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 More... NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,700,021...115,768,884 		JBrowse link
G DMPK DM1 protein kinase IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr19:45,769,709...45,782,490
Ensembl chr19:45,769,709...45,782,552 		JBrowse link
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008 		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 6:7,541,338...7,586,714 		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: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:15843404 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...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 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: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1		 ClinVar PMID:11157710 PMID:15197150 PMID:16239587 PMID:18092949 PMID:18752142 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
EXP		 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: 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 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: Stress-induced polymorphic ventricular tachycardia		 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...38,649,687 		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 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
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: Stress-induced polymorphic ventricular tachycardia
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		 CTD
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: Stress-induced polymorphic ventricular tachycardia		 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: Primary 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: Idiopathic dilated cardiomyopathy		 ClinVar
RGD		 PMID:12166651 PMID:20474083 PMID:24033266 PMID:25741868 PMID:27532257 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: 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: Primary dilated cardiomyopathy ClinVar PMID:21932095 PMID:25087612 PMID:25741868 PMID:26385305 PMID:27209629 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: 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 IAGP
EXP		 DNA:point mutations: :p.Arg312His, p.Glu361Gly (human)
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 Annotator: match by term: Left ventricular noncompaction 4
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
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 Annotator: match by term: Primary dilated cardiomyopathy		 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 ISO
EXP		 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 ISO
EXP		 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 no_association
treatment		 IAGP
ISO		 DNA:polymorphisms: :p.T174M, p.M235T (human) RGD PMID:9270088 PMID:22120037 RGD:1566491, RGD:8549486 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 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:25351510 PMID:25741868 PMID:28341588 PMID:28492532 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 dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | 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: Dilated Cardiomyopathy, Dominant | 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, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | 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 ATM ATM serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24358288 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102 		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: 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 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 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 C2orf49 chromosome 2 open reading frame 49 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: ANKRD1-related 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:23677916 PMID:24033266 PMID:25184293 PMID:25741868 PMID:28492532 More... 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 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: Dilated Cardiomyopathy, Dominant
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 1:115,700,021...115,768,884 		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 PMID:28492532 NCBI chr 4:185,445,182...185,471,733
Ensembl chr 4:185,445,182...185,471,752 		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 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 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 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: 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 7:136,868,652...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 PMID:25741868 PMID:28492532 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		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:8252591 PMID:10354207 RGD:243048472, RGD:243048483 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 IAGP
ISO		 DNA:missense mutation:cds:p.W4R (human)
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 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 Annotator: match by term: Primary dilated cardiomyopathy 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: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | 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 ISO
EXP		 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 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
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
EXP
ISO		 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
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: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive		 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: Cardiomyopathy, Familial Idiopathic | 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: 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 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: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
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 chr18:31,058,840...31,102,522 		JBrowse link
G DSG2 desmoglein 2 IAGP
ISO		 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:polymorphism:cds:c.209G > A (p.V55M)(human)
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
protein:increased expression:heart (rat)		 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 chr18:31,498,177...31,549,008 		JBrowse link
G DSG2-AS1 DSG2 antisense RNA 1 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: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: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy		 ClinVar
RGD		 PMID:3198322 PMID:9536098 PMID:10594734 PMID:11063735 PMID:16199547 More... RGD:1580891 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714 		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: Dilated Cardiomyopathy, Dominant 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: 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 FHL2 four and a half LIM domains 2 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: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 Annotator: match by term: Dilated Cardiomyopathy, Recessive		 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 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: 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, 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 Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19472918 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: 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 dilated cardiomyopathy | 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 Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21135393 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 PMID:25741868 PMID:28492532 NCBI chr 1:74,198,242...74,544,428
Ensembl chr 1:74,198,235...74,544,393 		JBrowse link
G GAA alpha glucosidase IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | 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 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 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: 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 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...2,001,466
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 6:26,087,281...26,098,343 		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 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 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 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: Dilated Cardiomyopathy, Dominant | 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, Dominant		 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 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 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 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.D626N (human)
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic
DNA:missense mutation: :p.D117N (human)
DNA:missense mutation:exon:p.S196L (human)		 ClinVar
RGD		 PMID:9536098 PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 More... RGD:1580827, RGD:11527732, 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 ISO
IAGP
EXP		 associated with Muscular Dystrophy, Emery-Dreifuss;DNA:missense mutation:cds:p.H222P (mouse)
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE
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: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutations:cds:multiple (human)
DNA:missense mutations, deletion:cds:multiple (human)
DNA:mutation		 ClinVar
CTD
RGD		 PMID:262236 PMID:2007407 PMID:2338570 PMID:2526018 PMID:2733290 More... RGD:2306094, RGD:11073137, RGD:1580515, RGD:2306091, RGD:2306092 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...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: Primary dilated cardiomyopathy
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: Cardiomyopathy, Familial Idiopathic		 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 Annotator: match by term: Primary dilated cardiomyopathy		 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: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic
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 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: ANKRD1-related dilated cardiomyopathy | 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 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, Recessive | 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: Primary dilated cardiomyopathy ClinVar PMID:25351510 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 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: Primary dilated cardiomyopathy 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: Dilated Cardiomyopathy, Dominant
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, Dominant		 ClinVar PMID:18258667 PMID:20800588 PMID:21211974 PMID:22464770 PMID:22949430 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: Cardiomyopathy, Familial Idiopathic		 ClinVar PMID:10080180 PMID:11102526 PMID:11138304 PMID:12920062 PMID:17599607 More...
G LOC129932678 ATAC-STARR-seq lymphoblastoid silent region 1893 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar
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
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...
G LOC129993502 ATAC-STARR-seq lymphoblastoid active region 22248 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G LOC129993503 ATAC-STARR-seq lymphoblastoid active region 22249 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G LOC129993504 ATAC-STARR-seq lymphoblastoid silent region 15849 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532
G LOC129993505 ATAC-STARR-seq lymphoblastoid silent region 15850 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G LOC129993506 ATAC-STARR-seq lymphoblastoid silent region 15851 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G LOC129993507 ATAC-STARR-seq lymphoblastoid active region 22250 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G LOC129993508 ATAC-STARR-seq lymphoblastoid active region 22251 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G LOC129993509 ATAC-STARR-seq lymphoblastoid active region 22252 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G LOC129993510 ATAC-STARR-seq lymphoblastoid active region 22253 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G LOC129993511 ATAC-STARR-seq lymphoblastoid active region 22254 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G LOC129993512 ATAC-STARR-seq lymphoblastoid active region 22255 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G LOC129993513 ATAC-STARR-seq lymphoblastoid active region 22256 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G LOC129993514 ATAC-STARR-seq lymphoblastoid silent region 15852 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G LOC129993515 ATAC-STARR-seq lymphoblastoid silent region 15853 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G LOC129993516 ATAC-STARR-seq lymphoblastoid active region 22257 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G LOC129993517 ATAC-STARR-seq lymphoblastoid active region 22258 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G LOC129993518 ATAC-STARR-seq lymphoblastoid silent region 15854 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G LOC129993519 ATAC-STARR-seq lymphoblastoid active region 22259 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532
G LOC129993520 ATAC-STARR-seq lymphoblastoid silent region 15855 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532
G LOC129993521 ATAC-STARR-seq lymphoblastoid active region 22260 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G LOC129993522 ATAC-STARR-seq lymphoblastoid active region 22261 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G LOC129993523 ATAC-STARR-seq lymphoblastoid silent region 15856 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532
G LOC129999273 ATAC-STARR-seq lymphoblastoid silent region 18616 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:25741868 PMID:26467025 PMID:26555887 PMID:28356264 PMID:28492532
G LOC130004109 ATAC-STARR-seq lymphoblastoid active region 3587 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr10:73,998,145...73,998,344 JBrowse link
G LOC130058878 ATAC-STARR-seq lymphoblastoid silent region 7400 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
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 PMID:11058912 PMID:24033266 PMID:25741868 PMID:26084686 PMID:28492532 More... NCBI chr16:30,902,026...30,902,525 JBrowse link
G LOC130062340 ATAC-STARR-seq lymphoblastoid silent region 9384 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr18:31,497,907...31,498,376 JBrowse link
G LOC130064563 ATAC-STARR-seq lymphoblastoid silent region 10692 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28701297 NCBI chr19:42,242,144...42,242,423 JBrowse link
G LOC130065090 ATAC-STARR-seq lymphoblastoid silent region 11016 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:55,160,627...55,160,736 JBrowse link
G LOC130066959 ATAC-STARR-seq lymphoblastoid active region 18663 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr22:19,855,405...19,855,884 JBrowse link
G LOC130066960 ATAC-STARR-seq lymphoblastoid silent region 13467 IAGP 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: Primary dilated cardiomyopathy		 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr22:19,941,590...19,941,759 JBrowse link
G LOC130068869 ATAC-STARR-seq lymphoblastoid silent region 21101 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr  X:154,411,526...154,412,065 JBrowse link
G LPL lipoprotein lipase IAGP ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic ClinVar PMID:28492532 PMID:32041611 PMID:33303402 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259 		JBrowse link
G LRP2BP LRP2 binding protein IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,363,872...185,397,287
Ensembl chr 4:185,363,872...185,395,924 		JBrowse link
G LRRC10 leucine rich repeat containing 10 ISS
IAGP		 ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy MouseDO
ClinVar		 PMID:25741868 PMID:28032242 PMID:28492532 NCBI chr12:69,608,564...69,610,907
Ensembl chr12:69,608,564...69,610,907 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 treatment ISO RGD PMID:31512380 RGD:156431214 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		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 MAP3K7 mitogen-activated protein kinase kinase kinase 7 IEP protein:increased phosphorylation:heart (human) RGD PMID:27249171 RGD:155646134 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor treatment ISO RGD PMID:22120037 RGD:8549486 NCBI chr 6:159,888,787...159,917,447
Ensembl chr 6:159,890,988...159,917,447 		JBrowse link
G MDM4 MDM4 regulator of p53 ISS MouseDO NCBI chr 1:204,516,406...204,558,120
Ensembl chr 1:204,516,379...204,558,120 		JBrowse link
G MED1 mediator complex subunit 1 ISO
ISS		 MouseDO
RGD		 PMID:27548259 RGD:13513972 NCBI chr17:39,404,285...39,451,263
Ensembl chr17:39,404,285...39,451,272 		JBrowse link
G MEF2A myocyte enhancer factor 2A IMP RGD PMID:16469744 RGD:1580546 NCBI chr15:99,565,417...99,716,488
Ensembl chr15:99,565,417...99,716,488 		JBrowse link
G MEF2C myocyte enhancer factor 2C ISO RGD PMID:16469744 RGD:1580546 NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257 		JBrowse link
G MFN1 mitofusin 1 ISO with Mfn2 knockout RGD PMID:22052916 RGD:11251967 NCBI chr 3:179,347,709...179,394,936
Ensembl chr 3:179,347,709...179,394,936 		JBrowse link
G MFN2 mitofusin 2 ISO with Mfn1 knockout RGD PMID:22052916 RGD:11251967 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MHRT myosin heavy chain associated RNA transcript 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:737223 PMID:901918 PMID:15322983 PMID:15556047 PMID:15769782 More... NCBI chr14:23,415,450...23,417,595 JBrowse link
G MIR675 microRNA 675 ameliorates ISO RGD PMID:28430627 RGD:156430329 NCBI chr11:1,996,759...1,996,831
Ensembl chr11:1,996,759...1,996,831 		JBrowse link
G MMP1 matrix metallopeptidase 1 severity IDA
IEP		 mRNA:increased expression:myocardium (human) RGD PMID:12167381 PMID:17178334 RGD:1582541, RGD:4890382 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP13 matrix metallopeptidase 13 ISO RGD PMID:16037568 RGD:1582576 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G MMP14 matrix metallopeptidase 14 IEP
ISO		 RGD PMID:11034943 PMID:16037568 RGD:1582586, RGD:1582576 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041 		JBrowse link
G MMP2 matrix metallopeptidase 2 IEP
ISO		 RGD PMID:11034943 PMID:16037568 RGD:1582586, RGD:1582576 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MRGPRD MAS related GPR family member D ISS MouseDO NCBI chr11:68,980,021...68,980,986
Ensembl chr11:68,980,021...68,980,986 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND4L mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:10,470...10,766
Ensembl chr MT:10,470...10,766 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TC mitochondrially encoded tRNA-Cys (UGU/C) IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:5,761...5,826
Ensembl chr MT:5,761...5,826 		JBrowse link
G MT-TD mitochondrially encoded tRNA-Asp (GAU/C) IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:7,518...7,585
Ensembl chr MT:7,518...7,585 		JBrowse link
G MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742 		JBrowse link
G MT-TG mitochondrially encoded tRNA-Gly (GGN) IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:9,991...10,058
Ensembl chr MT:9,991...10,058 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TI mitochondrially encoded tRNA-Ile (AUU/C) IAGP ClinVar Annotator: match by term: Cardiomyopathy, fatal
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, fatal infantile		 ClinVar PMID:1632786 PMID:1978914 PMID:12621050 PMID:12767666 PMID:31965079 NCBI chr MT:4,263...4,331
Ensembl chr MT:4,263...4,331 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G MT-TL2 mitochondrially encoded tRNA-Leu (CUN) 2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:12,266...12,336
Ensembl chr MT:12,266...12,336 		JBrowse link
G MT-TR mitochondrially encoded tRNA-Arg (CGN) IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:10,405...10,469
Ensembl chr MT:10,405...10,469 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TY mitochondrially encoded tRNA-Tyr (UAU/C) IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:5,826...5,891
Ensembl chr MT:5,826...5,891 		JBrowse link
G MTIF3 mitochondrial translational initiation factor 3 ISS MouseDO NCBI chr13:27,435,643...27,450,564
Ensembl chr13:27,435,643...27,450,591 		JBrowse link
G MTPN myotrophin IEP RGD PMID:8508536 RGD:1581048 NCBI chr 7:135,926,760...135,977,359
Ensembl chr 7:135,926,760...135,977,359 		JBrowse link
G MYBPC3 myosin binding protein C3 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 Annotator: match by term: Idiopathic dilated cardiomyopathy		 ClinVar PMID:203962 PMID:925171 PMID:1572569 PMID:2832387 PMID:7493025 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYH6 myosin heavy chain 6 EXP
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive		 CTD
ClinVar
MouseDO		 PMID:15998695 PMID:20215591 PMID:20656787 PMID:21483645 PMID:22011241 More... NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 onset IAGP
EXP		 DNA:missense mutations:exon:p.S532P, p.F764L (human)
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 Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:737223 PMID:901918 PMID:1552912 PMID:1739523 PMID:1975599 More... RGD:1556469 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYL2 myosin light chain 2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:18533079 PMID:20173211 PMID:21310275 PMID:22958901 PMID:23299917 More... NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,910,819...110,921,443 		JBrowse link
G MYOCD myocardin ISS
ISO
IEP		 mRNA:increased expression:heart
mRNA:increased expression:left ventricle		 MouseDO
RGD		 PMID:12920479 PMID:12920479 RGD:401793745, RGD:401793745 NCBI chr17:12,665,890...12,768,949
Ensembl chr17:12,665,890...12,768,949 		JBrowse link
G MYOM1 myomesin 1 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:3,066,807...3,247,376
Ensembl chr18:3,066,807...3,219,968 		JBrowse link
G MYPN myopalladin 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: Primary dilated cardiomyopathy		 ClinVar PMID:18006477 PMID:20801532 PMID:22286171 PMID:23299917 PMID:23861362 More... NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G MYZAP myocardial zonula adherens protein IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr15:57,591,904...57,685,364
Ensembl chr15:57,591,904...57,685,364 		JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:10545952 PMID:15210538 PMID:19879173 PMID:20159436 PMID:25741868 More... NCBI chr22:50,508,224...50,524,780
Ensembl chr22:50,508,224...50,524,780 		JBrowse link
G NCOA6 nuclear receptor coactivator 6 ISS MouseDO NCBI chr20:34,714,774...34,825,651
Ensembl chr20:34,689,097...34,825,651 		JBrowse link
G NEBL nebulette susceptibility IAGP DNA:missense mutation:cds:p.N654K (human)
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: Idiopathic dilated cardiomyopathy | 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
RGD		 PMID:9536098 PMID:11140941 PMID:16199547 PMID:17576681 PMID:20951326 More... RGD:1581084 NCBI chr10:20,779,973...21,293,050
Ensembl chr10:20,779,973...21,293,011 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28701297 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G NEXN nexilin F-actin binding protein 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: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive		 ClinVar PMID:19881492 PMID:20970104 PMID:23299917 PMID:24033266 PMID:24503780 More... NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895 		JBrowse link
G NFATC4 nuclear factor of activated T cells 4 IAGP DNA:missense mutation:cds:p.G160A (human) RGD PMID:12939651 RGD:1580248 NCBI chr14:24,366,911...24,379,604
Ensembl chr14:24,365,673...24,379,604 		JBrowse link
G NKX2-5 NK2 homeobox 5 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:28973413 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G NOS2 nitric oxide synthase 2 IEP mRNA:increased expression:endocardium RGD PMID:15698596 RGD:329970287 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NPPA natriuretic peptide A EXP
IEP		 CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:heart (human)		 CTD
RGD		 PMID:11986409 PMID:16762803 PMID:24275554 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 IEP
EXP		 protein:increased expression:serum
mRNA,protein:increased expression:heart (human)
CTD Direct Evidence: marker/mechanism|therapeutic		 CTD
RGD		 PMID:16762803 PMID:18628775 PMID:18068619 PMID:24275554 RGD:2324684, RGD:11252017 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945 		JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21321305 NCBI chr 4:148,078,764...148,445,508
Ensembl chr 4:148,078,762...148,444,698 		JBrowse link
G NRAP nebulin related anchoring protein IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr10:113,588,714...113,664,041
Ensembl chr10:113,588,714...113,664,070 		JBrowse link
G NTRK3 neurotrophic receptor tyrosine kinase 3 IAGP ClinVar Annotator: match by term: Neonatal cardiomyopathy ClinVar PMID:25741868 NCBI chr15:87,859,751...88,256,739
Ensembl chr15:87,859,751...88,256,791 		JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF IEP RGD PMID:15345656 RGD:1580779 NCBI chr 1:228,208,044...228,378,876
Ensembl chr 1:228,208,044...228,378,876 		JBrowse link
G PDCD1 programmed cell death 1 ISO
ISS		 MouseDO
RGD		 PMID:14595408 RGD:9589058 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PDE9A phosphodiesterase 9A IEP protein:increased expression:heart RGD PMID:25799991 RGD:240550109 NCBI chr21:42,653,621...42,775,509
Ensembl chr21:42,653,621...42,775,509 		JBrowse link
G PDLIM3 PDZ and LIM domain 3 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 Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:9536098 PMID:16199547 PMID:17254821 PMID:17576681 PMID:20801532 More... NCBI chr 4:185,500,660...185,535,507
Ensembl chr 4:185,500,660...185,535,507 		JBrowse link
G PDLIM5 PDZ and LIM domain 5 ISS MouseDO NCBI chr 4:94,451,942...94,668,223
Ensembl chr 4:94,451,857...94,668,227 		JBrowse link
G PGF placental growth factor ISO RGD PMID:21900081 RGD:6483574 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626 		JBrowse link
G PKP2 plakophilin 2 IAGP 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 PMID:2163603 PMID:20400443 PMID:21378009 PMID:21636032 PMID:23396983 More... NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G PLEC plectin IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G PLEKHM2 pleckstrin homology and RUN domain containing M2 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
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: Idiopathic dilated cardiomyopathy | 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:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 1:15,681,506...15,734,769
Ensembl chr 1:15,684,320...15,734,769 		JBrowse link
G PLN phospholamban 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 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha treatment ISO RGD PMID:19242323 RGD:2311057 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G PPP1CA protein phosphatase 1 catalytic subunit alpha ISO RGD PMID:12024026 RGD:737728 NCBI chr11:67,398,183...67,401,858
Ensembl chr11:67,398,181...67,421,183 		JBrowse link
G PPP1R13L protein phosphatase 1 regulatory subunit 13 like IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28069640 PMID:32666529 NCBI chr19:45,379,638...45,406,361
Ensembl chr19:45,379,638...45,406,349 		JBrowse link
G PPP3R1 protein phosphatase 3 regulatory subunit B, alpha IDA
ISS		 MouseDO
RGD		 PMID:15012912 RGD:1580709 NCBI chr 2:68,178,857...68,252,532
Ensembl chr 2:68,178,857...68,256,237 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23768516 PMID:25741868 PMID:28492532 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214 		JBrowse link
G PRKCA protein kinase C alpha IAGP RGD PMID:9918525 RGD:1581274 NCBI chr17:66,302,613...66,810,743
Ensembl chr17:66,302,613...66,810,743 		JBrowse link
G PRKCB protein kinase C beta IAGP RGD PMID:9918525 RGD:1581274 NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611 		JBrowse link
G PROX1 prospero homeobox 1 ISS MouseDO NCBI chr 1:213,983,151...214,041,510
Ensembl chr 1:213,983,181...214,041,510 		JBrowse link
G PSEN1 presenilin 1 IAGP
EXP		 ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:11389157 PMID:17186461 PMID:25741868 PMID:28492532 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
G PSEN2 presenilin 2 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 CTD
ClinVar		 PMID:17186461 PMID:20458010 PMID:21483645 PMID:22412221 PMID:24754482 More... NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726 		JBrowse link
G PTGER4 prostaglandin E receptor 4 ISS MouseDO NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO
IAGP
ISS		 ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar
MouseDO
RGD		 PMID:18759865 PMID:21934682 PMID:22923420 PMID:24033266 PMID:24803665 More... RGD:12743610 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RAC1 Rac family small GTPase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16155095 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 IAGP
EXP		 ClinVar Annotator: match by term: Primary dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:24777450 PMID:25741868 PMID:28492532 PMID:29493581 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RANBP1 RAN binding protein 1 IEP protein:decreased expression:heart ventricle, cytoplasm (human) RGD PMID:25341891 RGD:9835001 NCBI chr22:20,116,104...20,127,355
Ensembl chr22:20,115,938...20,127,355 		JBrowse link
G RBFOX1 RNA binding fox-1 homolog 1 IEP mRNA:decreased expression:heart (human) RGD PMID:28949795 RGD:329849000 NCBI chr16:5,239,721...7,713,340
Ensembl chr16:5,239,802...7,713,340 		JBrowse link
G RBFOX2 RNA binding fox-1 homolog 2 ISO RGD PMID:25753418 RGD:329845877 NCBI chr22:35,738,736...36,028,824
Ensembl chr22:35,738,736...36,028,824 		JBrowse link
G RBM20 RNA binding motif protein 20 severity 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 Annotator: match by term: Primary dilated cardiomyopathy
DNA:missense mutations:exon 9:multiple (human)		 ClinVar
RGD		 PMID:18585512 PMID:19712804 PMID:20590677 PMID:21483645 PMID:22004663 More... RGD:11067476 NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,468 		JBrowse link
G RBM24 RNA binding motif protein 24 ISS MouseDO NCBI chr 6:17,281,361...17,293,871
Ensembl chr 6:17,281,361...17,293,871 		JBrowse link
G RBP4 retinol binding protein 4 onset IEP protein:increased expression:blood plasma (human) RGD PMID:19926600 RGD:329845592 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP RGD PMID:10600520 RGD:1581297 NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131 		JBrowse link
G RENBP renin binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:12612874 NCBI chr  X:153,935,269...153,944,643
Ensembl chr  X:153,935,269...153,944,687 		JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased activity:heart RGD PMID:16043946 RGD:1643022 NCBI chr17:59,893,121...59,950,574
Ensembl chr17:59,893,046...59,950,574 		JBrowse link
G RTF1 RTF1 homolog, Paf1/RNA polymerase II complex component ISS MouseDO NCBI chr15:41,417,095...41,483,563
Ensembl chr15:41,408,408...41,483,563 		JBrowse link
G RTL10 retrotransposon Gag like 10 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr22:19,846,146...19,854,874
Ensembl chr22:19,846,138...19,854,896 		JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:23861362 PMID:24033266 PMID:25163546 More... NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988 		JBrowse link
G S100B S100 calcium binding protein B IEP protein:increased expression:serum RGD PMID:18068619 RGD:2324684 NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208 		JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar NCBI chr11:118,162,806...118,176,639
Ensembl chr11:118,162,806...118,176,639 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 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 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: Idiopathic dilated cardiomyopathy		 ClinVar PMID:9521325 PMID:10807545 PMID:10807547 PMID:10966831 PMID:11463728 More... NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:10545952 PMID:15210538 PMID:19879173 PMID:20159436 PMID:25741868 More... NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 CTD
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHAF4 succinate dehydrogenase complex assembly factor 4 ISS MouseDO NCBI chr 6:70,566,930...70,598,428
Ensembl chr 6:70,566,917...70,589,569 		JBrowse link
G SGCB sarcoglycan beta IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:12566530 PMID:15938573 PMID:25135358 PMID:25741868 PMID:25862795 More... NCBI chr 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,299 		JBrowse link
G SGCD sarcoglycan delta 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:23861362 PMID:24033266 PMID:25637381 PMID:25741868 PMID:26720722 More... NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788 		JBrowse link
G SGCG sarcoglycan gamma IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162 		JBrowse link
G SHBG sex hormone binding globulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:25996886 NCBI chr17:7,614,064...7,633,372
Ensembl chr17:7,613,946...7,633,382 		JBrowse link
G SIK1 salt inducible kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic		 CTD
ClinVar		 PMID:20074989 PMID:21641380 PMID:23520115 PMID:25741868 PMID:28492532 NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC8A1 solute carrier family 8 member A1 ISO RGD PMID:23436819 RGD:10053661 NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053 		JBrowse link
G SNTA1 syntrophin alpha 1 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763 		JBrowse link
G SNX25 sorting nexin 25 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,204,237...185,378,642
Ensembl chr 4:185,204,237...185,370,185 		JBrowse link
G SOD2 superoxide dismutase 2 ISO
ISS
EXP
IAGP		 CTD Direct Evidence: marker/mechanism MouseDO
CTD
RGD		 PMID:16155095 PMID:21195081 PMID:11677043 PMID:10425186 RGD:1581260, RGD:1580837 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 More... NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
G SP4 Sp4 transcription factor IDA RGD PMID:15972724 RGD:1581308 NCBI chr 7:21,428,083...21,514,822
Ensembl chr 7:21,428,043...21,514,822 		JBrowse link
G SRF serum response factor ISO
ISS		 MouseDO
RGD		 PMID:16260633 RGD:1580754 NCBI chr 6:43,171,269...43,181,506
Ensembl chr 6:43,171,269...43,181,506 		JBrowse link
G STK38 serine/threonine kinase 38 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr 6:36,493,892...36,547,479
Ensembl chr 6:36,493,892...36,547,479 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 ISO
IAGP		 ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar
RGD		 PMID:25741868 PMID:28386937 PMID:28492532 PMID:31250519 PMID:34906501 More... RGD:155663355 NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613 		JBrowse link
G TAF10 TATA-box binding protein associated factor 10 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr11:6,606,294...6,612,216
Ensembl chr11:6,606,294...6,612,539 		JBrowse link
G TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 1:222,554,105...222,589,933
Ensembl chr 1:222,557,902...222,589,933 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase 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
RGD		 PMID:4685904 PMID:9382096 PMID:11896212 PMID:12468278 PMID:19438153 More... RGD:1578363 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TARID TCF21 antisense RNA inducing promoter demethylation IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar NCBI chr 6:133,502,252...133,889,006
Ensembl chr 6:133,502,252...133,892,802 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TBX20 T-box transcription factor 20 ISS
IAGP		 ClinVar Annotator: match by term: Primary dilated cardiomyopathy MouseDO
ClinVar		 PMID:25741868 PMID:28492532 PMID:29089047 PMID:31333075 PMID:31568572 NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:16183809 PMID:16917909 PMID:17534187 PMID:25741868 PMID:28492532 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		JBrowse link
G TCAP titin-cap IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:10655062 PMID:23479141 PMID:24037902 PMID:25298746 PMID:25741868 More... NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		JBrowse link
G TCF7L2 transcription factor 7 like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr10:112,950,247...113,167,678
Ensembl chr10:112,950,247...113,167,678 		JBrowse link
G TFAP2A transcription factor AP-2 alpha IEP protein:increased expression:myocardium RGD PMID:14752511 RGD:1578494 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISS MouseDO NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:18313022 PMID:19467449 PMID:20010364 PMID:21214875 PMID:22458570 More... NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TMPO thymopoietin IAGP
EXP		 ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 More... NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,579...98,550,351 		JBrowse link
G TMPO-AS1 TMPO antisense RNA 1 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar NCBI chr12:98,512,973...98,516,226
Ensembl chr12:98,512,973...98,516,422 		JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:plasma: RGD PMID:14984724 RGD:7401238 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 1:1,211,340...1,214,153
Ensembl chr 1:1,211,326...1,214,153 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 1:12,063,303...12,144,207
Ensembl chr 1:12,063,303...12,144,207 		JBrowse link
G TNFRSF9 TNF receptor superfamily member 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 1:7,915,871...7,940,839
Ensembl chr 1:7,915,871...7,943,165 		JBrowse link
G TNFSF4 TNF superfamily member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,183,731...173,207,331 		JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595 		JBrowse link
G TNFSF9 TNF superfamily member 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr19:6,531,026...6,535,924
Ensembl chr19:6,531,026...6,535,924 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:20215591 PMID:21832052 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr 3:52,451,100...52,454,041
Ensembl chr 3:52,451,100...52,454,041 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP
EXP		 ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL 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 Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10806205 More... RGD:1580422 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TNNI3K TNNI3 interacting kinase IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:74,235,387...74,544,428
Ensembl chr 1:74,235,387...74,544,428 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP
EXP		 ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:181617 PMID:209243 PMID:936231 PMID:2025668 PMID:7898523 More... RGD:1580442 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G TP53 tumor protein p53 ISO RGD PMID:26004897 RGD:13782348 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
G TPM1 tropomyosin 1 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:11106625 PMID:18533079 PMID:20117437 PMID:20159828 PMID:20215591 More... NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915 		JBrowse link
G TRDN triadin IEP protein:decreased expression:heart RGD PMID:17400717 RGD:7327229 NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189 		JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:17033963 PMID:20435138 PMID:21741925 PMID:22277967 PMID:25037205 More... NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,761...57,808,071 		JBrowse link
G TTN titin IEP
IAGP
EXP		 mRNA, protein:altered expression:heart
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: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | 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: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE
CTD Direct Evidence: marker/mechanism
DNA:variants:cds:		 ClinVar
CTD
RGD		 PMID:9536098 PMID:10051295 PMID:11788824 PMID:11846417 PMID:12145747 More... RGD:1580779, RGD:11565821 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chr 2:178,776,926...178,779,963
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 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: 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: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic		 ClinVar PMID:9536098 PMID:15802564 PMID:16733766 PMID:17344846 PMID:17576681 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G TUBB tubulin beta class I ISO CTD Direct Evidence: marker/mechanism CTD PMID:16155095 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538 		JBrowse link
G TXN thioredoxin IEP RGD PMID:12870673 RGD:1580782 NCBI chr 9:110,243,810...110,256,507
Ensembl chr 9:110,243,810...110,256,507 		JBrowse link
G TXNRD2 thioredoxin reductase 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 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21247928 PMID:24601690 More... NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820 		JBrowse link
G UBE2I ubiquitin conjugating enzyme E2 I IEP mRNA:increased expression:left ventricle RGD PMID:23360823 RGD:13831294 NCBI chr16:1,309,152...1,327,017
Ensembl chr16:1,291,444...1,327,018 		JBrowse link
G UCN urocortin IEP protein:increased expression:heart left ventricle RGD PMID:11087261 PMID:14577573 RGD:1642796, RGD:1580792 NCBI chr 2:27,307,400...27,308,445
Ensembl chr 2:27,307,400...27,308,445 		JBrowse link
G UCP1 uncoupling protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr 4:140,559,431...140,568,961
Ensembl chr 4:140,559,431...140,568,961 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979 		JBrowse link
G VCL vinculin 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: Primary dilated cardiomyopathy		 ClinVar
RGD		 PMID:11815424 PMID:16949038 PMID:17785437 PMID:20474083 PMID:23396983 More... RGD:1580356 NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363 		JBrowse link
G WDR12 WD repeat domain 12 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25915632 NCBI chr 2:202,874,261...202,911,673
Ensembl chr 2:202,874,261...203,014,798 		JBrowse link
G YME1L1 YME1 like 1 ATPase ISS MouseDO NCBI chr10:27,110,111...27,154,384
Ensembl chr10:27,110,111...27,155,266 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO protein:increased expression:heart: RGD PMID:25196150 PMID:18658259 RGD:155882481, RGD:155882484 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
dilated cardiomyopathy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:24439875 PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 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: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087 		JBrowse link
G BAG3 BAG cochaperone 3 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:21353195 PMID:24033266 PMID:25741868 PMID:28436997 PMID:28492532 More... NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819 		JBrowse link
G DES desmin IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28074886 PMID:28492532 PMID:30847666 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 PMID:34103343 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DOT1L DOT1 like histone lysine methyltransferase ISS OMIM:115200 MouseDO NCBI chr19:2,163,933...2,232,578
Ensembl chr19:2,163,933...2,232,578 		JBrowse link
G DSC2 desmocollin 2 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:16199547 PMID:23911551 PMID:24033266 PMID:25741868 PMID:28153106 More... NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,840...31,102,522 		JBrowse link
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008 		JBrowse link
G DSG2-AS1 DSG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 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: Dilated cardiomyopathy 1A ClinVar PMID:20716751 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24125834 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714 		JBrowse link
G EMD emerin IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G GJD2-DT GJD2 divergent transcript IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr15:34,755,084...34,812,923
Ensembl chr15:34,755,084...34,813,505 		JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:26676105 NCBI chr 4:173,526,091...173,530,229
Ensembl chr 4:173,524,969...173,530,229 		JBrowse link
G HAND2-AS1 HAND2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:26676105 NCBI chr 4:173,528,600...173,591,255
Ensembl chr 4:173,527,270...173,659,696 		JBrowse link
G LDB3 LIM domain binding 3 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:19377068 More... NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072 		JBrowse link
G LMNA lamin A/C IAGP
ISS		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
OMIM:115200		 ClinVar
MouseDO
OMIM		 PMID:262236 PMID:2007407 PMID:2270059 PMID:2338570 PMID:2526018 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LOC110121269 VISTA enhancer hs2177 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:38,578,362...38,581,496 JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation		 ClinVar PMID:262236 PMID:11102973 PMID:11503164 PMID:12629077 PMID:12920062 More... NCBI chr 1:156,129,902...156,131,101 JBrowse link
G LOC126806421 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179407630-179408829 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:9536098 PMID:17576681 PMID:23975875 PMID:25589632 PMID:25741868 More... NCBI chr 2:178,542,903...178,544,102 JBrowse link
G LOC126861897 BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30105547 PMID:34816733 NCBI chr14:23,415,246...23,416,445 JBrowse link
G LOC129931597 ATAC-STARR-seq lymphoblastoid silent region 1421 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation		 ClinVar PMID:12920062 PMID:13129702 PMID:14985400 PMID:15060110 PMID:15539782 More...
G LPL lipoprotein lipase IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:28492532 PMID:32041611 PMID:33303402 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259 		JBrowse link
G MHRT myosin heavy chain associated RNA transcript IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30105547 PMID:34816733 NCBI chr14:23,415,450...23,417,595 JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:11499718 PMID:11815426 PMID:12110947 PMID:12707239 PMID:12818575 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28082330 PMID:28492532 PMID:33500567 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30105547 PMID:34816733 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYPN myopalladin IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NEXN nexilin F-actin binding protein IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895 		JBrowse link
G NFATC2 nuclear factor of activated T cells 2 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chr20:51,386,963...51,562,839
Ensembl chr20:51,386,957...51,562,831 		JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G RAPGEF5 Rap guanine nucleotide exchange factor 5 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chr 7:22,118,236...22,357,154
Ensembl chr 7:22,118,236...22,357,154 		JBrowse link
G RBM20 RNA binding motif protein 20 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:19712804 PMID:20590677 PMID:22004663 PMID:22466703 PMID:24033266 More... NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,468 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:16712702 PMID:18508782 PMID:19716085 PMID:22581653 PMID:23631430 More... NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687 		JBrowse link
G SEMA3E semaphorin 3E IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		JBrowse link
G SGCD sarcoglycan delta IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25637381 PMID:25741868 NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:20074989 PMID:23520115 PMID:25741868 PMID:28492532 NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:28492532 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation		 ClinVar PMID:9536098 PMID:17576681 PMID:21520333 PMID:22335739 PMID:23418287 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation		 ClinVar PMID:9536098 PMID:17576681 PMID:21520333 PMID:22335739 PMID:23418287 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G UNC45B unc-45 myosin chaperone B IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chr17:35,147,817...35,189,345
Ensembl chr17:35,147,817...35,189,345 		JBrowse link
dilated cardiomyopathy 1AA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN2 actinin alpha 2 IAGP
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14567970 PMID:16199547 PMID:17097056 PMID:17576681 More... NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
G LOC110121264 VISTA enhancer hs2135 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr 1:236,688,083...236,690,415 JBrowse link
G LOC110121265 VISTA enhancer hs2137 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr 1:236,997,312...237,000,217 JBrowse link
G LOC110121266 VISTA enhancer hs2138 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr 1:237,011,218...237,013,545 JBrowse link
G LOC122152347 Sharpr-MPRA regulatory region 3741 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr 1:236,833,589...236,833,883 JBrowse link
G LOC129388791 MPRA-validated peak789 silencer IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr 1:237,025,515...237,025,715 JBrowse link
G LOC129932885 ATAC-STARR-seq lymphoblastoid active region 2826 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532
G LOC129932886 ATAC-STARR-seq lymphoblastoid active region 2827 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532
G MT1HL1 metallothionein 1H like 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA 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: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278 		JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988 		JBrowse link
dilated cardiomyopathy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28074886 PMID:28492532 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACTN2 actinin alpha 2 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
G APOB apolipoprotein B IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:14732481 PMID:20981092 PMID:21408211 PMID:24033266 PMID:25741868 More... NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G BAG3 BAG cochaperone 3 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial
ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1		 ClinVar PMID:9536098 PMID:17576681 PMID:21459883 PMID:24033266 PMID:24558114 More... NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819 		JBrowse link
G DES desmin IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:10717012 PMID:11073539 PMID:12620971 PMID:14724127 PMID:19587455 More... NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:7599634 PMID:7849724 PMID:11710958 PMID:19760747 PMID:24033266 More... NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DSC2 desmocollin 2 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,840...31,102,522 		JBrowse link
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:18639457 PMID:20031616 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008 		JBrowse link
G DSG2-AS1 DSG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 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: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15941723 PMID:20152563 PMID:20716751 PMID:21606396 PMID:21636032 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714 		JBrowse link
G EMD emerin IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G FKTN fukutin IAGP DNA:insertion, missense mutations:exon:p.R179T (c.536G>C), p.Q358P (c.1073A>C) (human)
ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:32969603 PMID:33048919 PMID:34120883 More... RGD:11576324 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLNC filamin C IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:27908349 PMID:28492532 PMID:32112656 PMID:33874732 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: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:27908349 PMID:28492532 PMID:32112656 NCBI chr 7:128,850,162...128,862,626
Ensembl chr 7:128,850,162...128,862,626 		JBrowse link
G JUP junction plakoglobin IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G LDB3 LIM domain binding 3 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15668942 PMID:20474083 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072 		JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:11897440 PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LOC110121269 VISTA enhancer hs2177 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:16712702 PMID:19841300 PMID:19862833 PMID:20102864 PMID:22581653 More... NCBI chr 3:38,578,362...38,581,496 JBrowse link
G LOC110121486 VISTA enhancer hs2143 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 NCBI chr10:86,684,072...86,689,569 JBrowse link
G LOC126806420 BRD4-independent group 4 enhancer GRCh37_chr2:179401104-179402303 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:23975875 PMID:25589632 PMID:28492532 NCBI chr 2:178,536,377...178,537,576 JBrowse link
G LOC126806422 BRD4-independent group 4 enhancer GRCh37_chr2:179440205-179441404 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar NCBI chr 2:178,575,478...178,576,677 JBrowse link
G LOC126806425 BRD4-independent group 4 enhancer GRCh37_chr2:179471933-179473132 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1 ClinVar PMID:23975875 PMID:25163546 PMID:25589632 PMID:27813223 PMID:28492532 NCBI chr 2:178,607,206...178,608,405 JBrowse link
G LOC126861898 BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:23,424,400...23,425,599 JBrowse link
G LOC129935183 ATAC-STARR-seq lymphoblastoid active region 16808 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:27869827 More...
G LOC130062340 ATAC-STARR-seq lymphoblastoid silent region 9384 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:18639457 PMID:20031616 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr18:31,497,907...31,498,376 JBrowse link
G MHRT myosin heavy chain associated RNA transcript IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15769782 PMID:17192269 PMID:21482996 PMID:24033266 PMID:27532257 More... NCBI chr14:23,415,450...23,417,595 JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:2073894 PMID:9048664 PMID:9536098 PMID:9631872 PMID:10521296 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15998695 PMID:20215591 PMID:21483645 PMID:23299917 PMID:23861362 More... NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:12951062 More... NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYPN myopalladin IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:22286171 PMID:23299917 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NEXN nexilin F-actin binding protein IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 PMID:32058062 PMID:32814711 PMID:32870709 More... NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895 		JBrowse link
G P2RX5-TAX1BP3 P2RX5-TAX1BP3 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25645515 PMID:25741868 PMID:32576985 NCBI chr17:3,662,893...3,696,404
Ensembl chr17:3,663,063...3,696,194 		JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:22558107 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RBM20 RNA binding motif protein 20 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:19712804 PMID:20590677 PMID:21483645 PMID:22004663 PMID:23861363 More... NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,468 		JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:26132555 PMID:28492532 PMID:36082968 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: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:9521325 PMID:11901046 PMID:12106943 PMID:14523039 PMID:15671429 More... NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687 		JBrowse link
G SGCD sarcoglycan delta IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TAX1BP3 Tax1 binding protein 3 IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25645515 PMID:25741868 PMID:32576985 NCBI chr17:3,662,895...3,668,578
Ensembl chr17:3,662,895...3,668,679 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:9241277 PMID:11735257 PMID:18006163 PMID:18467357 PMID:18533079 More... NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15542288 PMID:16199547 PMID:19412328 PMID:20031601 PMID:20215591 More... NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G TTN titin EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial
ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1
ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial		 CTD
ClinVar		 PMID:11788824 PMID:12145747 PMID:17444505 PMID:18948003 PMID:21520333 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1
ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial
ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial		 ClinVar PMID:12145747 PMID:17444505 PMID:18948003 PMID:21520333 PMID:22335739 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G VCL vinculin IAGP ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15769782 PMID:16236538 PMID:16712796 PMID:17785437 PMID:23299917 More... NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363 		JBrowse link
dilated cardiomyopathy 1BB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSG2 desmoglein 2 IAGP
EXP		 ClinVar Annotator: match by term: DSG2-related condition
ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB
ClinVar Annotator: match by term: DSG2-related condition | ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB
ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB | ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2040044 PMID:9536098 PMID:12586364 PMID:16025435 PMID:16199547 More... NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008 		JBrowse link
G DSG2-AS1 DSG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB
ClinVar Annotator: match by term: DSG2-related condition
ClinVar Annotator: match by term: DSG2-related condition | ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB		 ClinVar PMID:16025435 PMID:16773573 PMID:17105751 PMID:18382419 PMID:18678517 More... NCBI chr18:31,542,146...31,556,911
Ensembl chr18:31,542,146...31,556,948 		JBrowse link
G LDB3 LIM domain binding 3 IAGP ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy ClinVar PMID:19377068 PMID:23396983 PMID:24033266 PMID:25351510 PMID:25741868 More... NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072 		JBrowse link
G LMOD2 leiomodin 2 IAGP ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy ClinVar PMID:35082396 NCBI chr 7:123,655,866...123,664,290
Ensembl chr 7:123,655,866...123,664,290 		JBrowse link
G LOC130062340 ATAC-STARR-seq lymphoblastoid silent region 9384 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB
ClinVar Annotator: match by term: DSG2-related condition		 ClinVar PMID:9536098 PMID:17576681 PMID:21397041 PMID:24033266 PMID:25741868 More... NCBI chr18:31,497,907...31,498,376 JBrowse link
G TNNT2 troponin T2, cardiac type IAGP ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy ClinVar PMID:11684629 PMID:12923187 PMID:14654368 PMID:15623536 PMID:15769782 More... NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
dilated cardiomyopathy 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LDB3 LIM domain binding 3 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1C
ClinVar Annotator: match by term: LDB3-related condition
ClinVar Annotator: match by term: Dilated cardiomyopathy 1C | ClinVar Annotator: match by term: LDB3-related condition
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Dilated cardiomyopathy 1C | ClinVar Annotator: match by term: LDB3-related condition
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 24
OMIM:601493
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Left ventricular noncompaction 3		 ClinVar
MouseDO
CTD
OMIM		 PMID:4855680 PMID:9536098 PMID:11696561 PMID:14660611 PMID:14662268 More... NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072 		JBrowse link
G LOC110121486 VISTA enhancer hs2143 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1C
ClinVar Annotator: match by term: Dilated cardiomyopathy 1C | ClinVar Annotator: match by term: LDB3-related condition
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Dilated cardiomyopathy 1C | ClinVar Annotator: match by term: LDB3-related condition		 ClinVar PMID:4855680 PMID:14662268 PMID:15668942 PMID:16476425 PMID:17337483 More... NCBI chr10:86,684,072...86,689,569 JBrowse link
G LOC130004243 ATAC-STARR-seq lymphoblastoid active region 3695 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1C ClinVar PMID:25741868 NCBI chr10:86,668,642...86,668,691 JBrowse link
dilated cardiomyopathy 1CC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126805765 BRD4-independent group 4 enhancer GRCh37_chr1:78383688-78384887 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr 1:77,918,003...77,919,202 JBrowse link
G NEXN nexilin F-actin binding protein IAGP
ISS
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC
OMIM:613122
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:19881492 More... NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895 		JBrowse link
dilated cardiomyopathy 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNNT2 troponin T2, cardiac type IAGP
ISS
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1D
ClinVar Annotator: match by term: Dilated cardiomyopathy 1D | ClinVar Annotator: match by term: Left ventricular noncompaction 6
OMIM:601494
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:181617 PMID:209243 PMID:209262 PMID:541918 PMID:936231 More... NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
dilated cardiomyopathy 1DD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BBIP1 BBSome interacting protein 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD ClinVar PMID:28492532 NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201 		JBrowse link
G LOC111875823 Sharpr-MPRA regulatory region 1411 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD ClinVar PMID:28492532 NCBI chr10:110,664,971...110,665,265 JBrowse link
G LOC126861041 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:112534241-112535440 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD ClinVar PMID:28492532 NCBI chr10:110,774,483...110,775,682 JBrowse link
G LOC130004733 ATAC-STARR-seq lymphoblastoid active region 4041 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD ClinVar PMID:28492532 NCBI chr10:110,672,506...110,672,795 JBrowse link
G LOC130004734 ATAC-STARR-seq lymphoblastoid active region 4043 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD ClinVar PMID:28492532 NCBI chr10:110,815,619...110,815,908 JBrowse link
G PDCD4 programmed cell death 4 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD ClinVar PMID:28492532 NCBI chr10:110,871,928...110,900,006
Ensembl chr10:110,871,795...110,900,006 		JBrowse link
G RBM20 RNA binding motif protein 20 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD | ClinVar Annotator: match by term: RBM20-related condition
OMIM:613172
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:16783378 PMID:17576681 PMID:18585512 More... NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,468 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD ClinVar PMID:28492532 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD ClinVar PMID:2025668 PMID:15358028 PMID:16199547 PMID:19754353 PMID:24033266 More... NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
dilated cardiomyopathy 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110121269 VISTA enhancer hs2177 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2
ClinVar Annotator: match by term: Dilated cardiomyopathy 1E		 ClinVar PMID:1309946 PMID:10807545 PMID:11710892 PMID:12193783 PMID:12471205 More... NCBI chr 3:38,578,362...38,581,496 JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1E
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2 | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1E
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2107088 More... NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687 		JBrowse link
dilated cardiomyopathy 1EE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC114827851 VISTA enhancer hs2155 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1EE ClinVar PMID:9536098 PMID:17576681 PMID:20656787 PMID:22194935 PMID:23861362 More... NCBI chr14:23,404,568...23,409,443 JBrowse link
G LOC126861896 BRD4-independent group 4 enhancer GRCh37_chr14:23854904-23856103 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1EE ClinVar PMID:23861362 PMID:24033266 PMID:25351510 PMID:25741868 PMID:28255936 More... NCBI chr14:23,385,695...23,386,894 JBrowse link
G MYH6 myosin heavy chain 6 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1EE
OMIM:613252
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:11815426 PMID:15998695 PMID:16199547 PMID:17576681 More... NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
dilated cardiomyopathy 1FF term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLF5 KLF transcription factor 5 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1FF ClinVar NCBI chr13:73,054,976...73,077,538
Ensembl chr13:73,054,976...73,077,541 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1FF
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3144325 PMID:3349559 PMID:9241277 PMID:10806205 PMID:11735257 More... NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
dilated cardiomyopathy 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS2 alanyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr 6:44,298,731...44,313,347
Ensembl chr 6:44,298,731...44,313,347 		JBrowse link
G CCDC141 coiled-coil domain containing 141 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:28492532 PMID:30557390 NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137 		JBrowse link
G FKBP7 FKBP prolyl isomerase 7 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:28492532 More... NCBI chr 2:178,463,664...178,478,600
Ensembl chr 2:178,463,664...178,478,600 		JBrowse link
G LOC126806420 BRD4-independent group 4 enhancer GRCh37_chr2:179401104-179402303 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:9536098 PMID:17344846 PMID:17576681 PMID:18414213 PMID:18948003 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: Dilated cardiomyopathy 1G ClinVar PMID:9536098 PMID:17576681 PMID:18948003 PMID:21681106 PMID:22335739 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: Dilated cardiomyopathy 1G ClinVar PMID:1745277 PMID:9536098 PMID:10462489 PMID:11717165 PMID:12145747 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: Dilated cardiomyopathy 1G ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:19763152 PMID:20307669 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: Dilated cardiomyopathy 1G ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:19763152 PMID:20307669 More... 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: Dilated cardiomyopathy 1G ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:22335739 PMID:23396983 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: Dilated cardiomyopathy 1G ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:23861362 PMID:23975875 More... 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: Dilated cardiomyopathy 1G ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:22335739 PMID:23396983 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: Dilated cardiomyopathy 1G ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:22335739 PMID:23861362 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: Dilated cardiomyopathy 1G ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:21520333 PMID:22335739 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: Dilated cardiomyopathy 1G ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:19763152 PMID:20307669 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: Dilated cardiomyopathy 1G ClinVar PMID:9536098 PMID:17576681 PMID:22335739 PMID:23396983 PMID:23478172 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: Dilated cardiomyopathy 1G ClinVar PMID:23861362 PMID:24033266 PMID:24667040 PMID:25589632 PMID:25741868 More... 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: Dilated cardiomyopathy 1G ClinVar PMID:18414213 PMID:22335739 PMID:23861362 PMID:23910462 PMID:23975875 More... NCBI chr 2:178,773,582...178,774,781 JBrowse link
G LOC129388955 MPRA-validated peak3948 silencer IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:28492532 NCBI chr 2:178,627,328...178,627,528 JBrowse link
G LOC129935181 ATAC-STARR-seq lymphoblastoid silent region 12151 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:21681106 PMID:22335739
G LOC129935182 ATAC-STARR-seq lymphoblastoid active region 16807 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:21681106 PMID:22335739 PMID:23975875 PMID:24033266 More...
G LOC129935183 ATAC-STARR-seq lymphoblastoid active region 16808 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18414213 PMID:18948003 PMID:21681106 PMID:22335739 PMID:23396983 More...
G LOC129935184 ATAC-STARR-seq lymphoblastoid active region 16809 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:21681106 PMID:22335739 PMID:23861362 PMID:23975875 More...
G LOC129935185 ATAC-STARR-seq lymphoblastoid active region 16810 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:21681106 PMID:22335739 PMID:23861362 PMID:23975875 More...
G LOC129935186 ATAC-STARR-seq lymphoblastoid active region 16811 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:9536098 PMID:17576681 PMID:18948003 PMID:21681106 PMID:22335739 More...
G PJVK pejvakin IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:28492532 More... NCBI chr 2:178,451,378...178,462,102
Ensembl chr 2:178,451,346...178,462,102 		JBrowse link
G PLEKHA3 pleckstrin homology domain containing A3 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:21681106 PMID:22335739 PMID:23975875 PMID:24395473 More... NCBI chr 2:178,480,457...178,516,463
Ensembl chr 2:178,480,457...178,516,463 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:28492532 More... NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512 		JBrowse link
G TTN titin IAGP
ISS
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1G
OMIM:604145
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:1745277 PMID:4315225 PMID:9536098 PMID:9804419 PMID:10051295 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:22335739 PMID:23396983 More... NCBI chr 2:178,776,926...178,779,963
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:1745277 PMID:4315225 PMID:9536098 PMID:9804419 PMID:10462489 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
dilated cardiomyopathy 1GG term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG OMIM
ClinVar		 PMID:1492653 PMID:7550341 PMID:9536098 PMID:10721988 PMID:10746566 More... NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
dilated cardiomyopathy 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRB3 adrenoceptor beta 3 susceptibility IAGP DNA:missense mutation, haplotype:cds:p.W64R rs4994 (human) RGD PMID:20123316 RGD:5684357 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IEP mRNA:increased expression:left ventricle: RGD PMID:19332114 RGD:10053590 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087 		JBrowse link
G BAG3 BAG cochaperone 3 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:21353195 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28669108 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819 		JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 treatment IAGP DNA:SNP:promoter:-344C>T (human) RGD PMID:12031704 RGD:1576426 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843 		JBrowse link
G DES desmin IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:25741868 PMID:28074886 PMID:28492532 PMID:30847666 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:25741868 PMID:28492532 PMID:34103343 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:20716751 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24125834 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphism (human)
DNA:polymorphisms (human)		 RGD PMID:15996167 PMID:10432437 PMID:15498363 RGD:5147650, RGD:5147858, RGD:5147795 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DQB1*0303 (human)
DNA:polymorphisms (human)		 RGD PMID:15996167 PMID:10432437 RGD:5147650, RGD:5147858 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G LDB3 LIM domain binding 3 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:19377068 More... NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072 		JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:262236 PMID:2007407 PMID:2338570 PMID:2526018 PMID:2733290 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:262236 PMID:11102973 PMID:11503164 PMID:12629077 PMID:12920062 More... NCBI chr 1:156,129,902...156,131,101 JBrowse link
G LOC129931597 ATAC-STARR-seq lymphoblastoid silent region 1421 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:12920062 PMID:18414213 PMID:18795223 PMID:19318026 PMID:19424285 More...
G LPL lipoprotein lipase IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:28492532 PMID:32041611 PMID:33303402 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:11499718 PMID:11815426 PMID:12110947 PMID:12707239 PMID:12818575 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:24033266 PMID:25741868 PMID:28082330 PMID:28492532 PMID:33500567 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYPN myopalladin IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NEXN nexilin F-actin binding protein IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895 		JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G RBM20 RNA binding motif protein 20 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:19712804 PMID:20590677 PMID:22004663 PMID:22466703 PMID:24033266 More... NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,468 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:16712702 PMID:18508782 PMID:19716085 PMID:22581653 PMID:23631430 More... NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:20074989 PMID:23520115 PMID:25741868 PMID:28492532 NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IDA RGD PMID:12056860 RGD:9681470 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G TNF tumor necrosis factor severity IEP RGD PMID:14676433 RGD:7401234 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:28492532 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TRPC5 transient receptor potential cation channel subfamily C member 5 IEP mRNA,protein:increased expression:heart: RGD PMID:16950785 RGD:10044019 NCBI chr  X:111,768,011...112,082,776
Ensembl chr  X:111,768,011...112,082,776 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:21520333 PMID:22335739 PMID:23418287 PMID:23975875 PMID:24033266 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:21520333 PMID:22335739 PMID:23418287 PMID:23975875 PMID:24033266 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
dilated cardiomyopathy 1HH term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAG3 BAG cochaperone 3 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1HH
OMIM:613881
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:2159883 PMID:9536098 PMID:17576681 PMID:19085932 PMID:20301672 More... NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819 		JBrowse link
dilated cardiomyopathy 1I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DES desmin IAGP
ISS
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1I
OMIM:604765
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:9697706 PMID:10430757 PMID:10717012 PMID:10905661 More... NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DES-LCR desmin locus control region IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1I ClinVar NCBI chr 2:219,399,709...219,418,452 JBrowse link
G LOC110121267 VISTA enhancer hs2169 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1I ClinVar NCBI chr 2:219,429,150...219,432,239 JBrowse link
G LOC126806518 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:220317062-220318261 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1I ClinVar NCBI chr 2:219,451,995...219,453,603 JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1I ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:16199542 PMID:16715312 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G SPEG striated muscle enriched protein kinase IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1I ClinVar NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629 		JBrowse link
dilated cardiomyopathy 1II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C11orf52 chromosome 11 open reading frame 52 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr11:111,918,913...111,926,871
Ensembl chr11:111,918,032...111,926,871 		JBrowse link
G CRYAB crystallin alpha B IAGP
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1II
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1560021 PMID:2299599 PMID:9536098 PMID:11013455 PMID:14681890 More... NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		JBrowse link
G DIXDC1 DIX domain containing 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr11:111,927,315...112,022,653
Ensembl chr11:111,927,144...112,022,653 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr11:112,025,408...112,064,404
Ensembl chr11:112,025,033...112,064,404 		JBrowse link
G HSPB2 heat shock protein family B (small) member 2 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr11:111,912,734...111,914,093
Ensembl chr11:111,912,734...111,914,093 		JBrowse link
G NKAPD1 NKAP domain containing 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr11:112,074,299...112,085,150
Ensembl chr11:112,074,086...112,085,150 		JBrowse link
G PIH1D2 PIH1 domain containing 2 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr11:112,052,485...112,074,017
Ensembl chr11:112,063,218...112,074,274 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G TIMM8B translocase of inner mitochondrial membrane 8 homolog B IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr11:112,084,800...112,086,756
Ensembl chr11:112,084,800...112,086,798 		JBrowse link
dilated cardiomyopathy 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYA4 EYA transcriptional coactivator and phosphatase 4 IAGP
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1J
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Dilated cardiomyopathy 1J
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:10769282 PMID:11159937 PMID:15735644 PMID:16199547 More... NCBI chr 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128 		JBrowse link
G LOC126859796 MED14-independent group 3 enhancer GRCh37_chr6:133826289-133827488 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1J ClinVar PMID:9536098 PMID:11159937 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr 6:133,505,151...133,506,350 JBrowse link
G TARID TCF21 antisense RNA inducing promoter demethylation IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1J
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Dilated cardiomyopathy 1J		 ClinVar PMID:9536098 PMID:11159937 PMID:16199547 PMID:17576681 PMID:23861362 More... NCBI chr 6:133,502,252...133,889,006
Ensembl chr 6:133,502,252...133,892,802 		JBrowse link
dilated cardiomyopathy 1JJ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMA4 laminin subunit alpha 4 IAGP
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ
ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ | ClinVar Annotator: match by term: LAMA4-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16204254 PMID:17576681 PMID:17646580 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: Dilated cardiomyopathy 1JJ
ClinVar Annotator: match by term: LAMA4-related condition		 ClinVar PMID:9536098 PMID:17576681 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr 6:112,236,596...112,306,683 JBrowse link
G LOC126859766 MED14-independent group 3 enhancer GRCh37_chr6:112462018-112463217 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ
ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ | ClinVar Annotator: match by term: LAMA4-related condition		 ClinVar PMID:17646580 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 6:112,140,816...112,142,015 JBrowse link
dilated cardiomyopathy 1KK term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC132089829 Neanderthal introgressed variant-containing enhancer experimental_16132 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK ClinVar PMID:25741868 PMID:28017374 PMID:28492532 NCBI chr10:68,194,459...68,194,628 JBrowse link
G MYPN myopalladin IAGP
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK
ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK | ClinVar Annotator: match by term: MYPN-related condition
ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 4 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 22
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18006477 PMID:20801532 More... NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
dilated cardiomyopathy 1L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SGCD sarcoglycan delta IAGP
ISS
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1L
OMIM:606685
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8841194 PMID:9536098 PMID:10735275 PMID:10838250 PMID:10974018 More... NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788 		JBrowse link
dilated cardiomyopathy 1LL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,292,391...1,307,930
Ensembl chr 1:1,292,390...1,309,609 		JBrowse link
G ACTRT2 actin related protein T2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,021,467...3,022,903
Ensembl chr 1:3,021,467...3,022,903 		JBrowse link
G AGRN agrin IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,418,420...1,421,276
Ensembl chr 1:1,418,420...1,421,769 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G ATAD3B ATPase family AAA domain containing 3B IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,471,765...1,509,466
Ensembl chr 1:1,471,765...1,497,848 		JBrowse link
G ATAD3C ATPase family AAA domain containing 3C IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,449,689...1,470,163
Ensembl chr 1:1,449,689...1,470,163 		JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,373,736...1,375,207
Ensembl chr 1:1,373,730...1,375,207 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G C1orf159 chromosome 1 open reading frame 159 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,081,823...1,116,089
Ensembl chr 1:1,081,818...1,116,361 		JBrowse link
G C1QTNF12 C1q and TNF related 12 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,242,453...1,247,280
Ensembl chr 1:1,242,446...1,246,722 		JBrowse link
G CALML6 calmodulin like 6 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,915,260...1,917,296
Ensembl chr 1:1,915,108...1,917,296 		JBrowse link
G CCNL2 cyclin L2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,385,711...1,399,335
Ensembl chr 1:1,385,711...1,399,335 		JBrowse link
G CDK11A cyclin dependent kinase 11A IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,702,379...1,724,357
Ensembl chr 1:1,702,379...1,724,357 		JBrowse link
G CDK11B cyclin dependent kinase 11B IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,635,225...1,659,004
Ensembl chr 1:1,635,225...1,659,012 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,324,802...1,328,896
Ensembl chr 1:1,324,756...1,328,896 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G FAAP20 FA core complex associated protein 20 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,184,477...2,212,720
Ensembl chr 1:2,184,461...2,212,720 		JBrowse link
G FNDC10 fibronectin type III domain containing 10 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,598,012...1,600,135
Ensembl chr 1:1,598,012...1,600,135 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G HES5 hes family bHLH transcription factor 5 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,528,745...2,530,263
Ensembl chr 1:2,528,745...2,530,263 		JBrowse link
G INTS11 integrator complex subunit 11 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687 		JBrowse link
G LOC105378604 uncharacterized LOC105378604 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,306,653...3,323,497 JBrowse link
G LOC110120751 VISTA enhancer hs705 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,274,017...3,274,864 JBrowse link
G LOC110121223 VISTA enhancer hs1912 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,345,529...3,349,801 JBrowse link
G LOC112577578 Sharpr-MPRA regulatory region 1148 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,240,945...3,241,239 JBrowse link
G LOC112577579 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:3229262-3230461 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,312,698...3,313,897 JBrowse link
G LOC120851201 Sharpr-MPRA regulatory region 1987 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,293,265...3,293,559 JBrowse link
G LOC121967052 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3272921-3273812 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,356,357...3,357,248 JBrowse link
G LOC124903827 translation initiation factor IF-2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,055,423...3,075,562 JBrowse link
G LOC126805583 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:3080396-3081595 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,163,832...3,165,031 JBrowse link
G LOC126805584 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:3191818-3193017 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,275,254...3,276,453 JBrowse link
G LOC126805585 BRD4-independent group 4 enhancer GRCh37_chr1:3215870-3217069 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,299,306...3,300,505 JBrowse link
G LOC132088690 Neanderthal introgressed variant-containing enhancer experimental_6604 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,145,579...3,145,748 JBrowse link
G LOC132088694 Neanderthal introgressed variant-containing enhancer experimental_6702 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,234,047...3,234,216 JBrowse link
G LOC132090658 Neanderthal introgressed variant-containing enhancer experimental_6721 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,303,348...3,303,517 JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,613,731...1,630,605
Ensembl chr 1:1,615,454...1,630,605 		JBrowse link
G MIR200A microRNA 200a IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,167,863...1,167,952
Ensembl chr 1:1,167,863...1,167,952 		JBrowse link
G MIR200B microRNA 200b IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198 		JBrowse link
G MIR4251 microRNA 4251 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,127,975...3,128,035
Ensembl chr 1:3,127,975...3,128,035 		JBrowse link
G MIR429 microRNA 429 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,169,005...1,169,087
Ensembl chr 1:1,169,005...1,169,087 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016 		JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263 		JBrowse link
G MORN1 MORN repeat containing 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,321,253...2,391,554
Ensembl chr 1:2,321,253...2,391,707 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,401,909...1,407,293
Ensembl chr 1:1,401,909...1,407,293 		JBrowse link
G MXRA8 matrix remodeling associated 8 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,352,689...1,363,541
Ensembl chr 1:1,352,689...1,361,777 		JBrowse link
G NADK NAD kinase IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,751,232...1,780,514
Ensembl chr 1:1,751,232...1,780,457 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,508,537...2,526,596
Ensembl chr 1:2,508,537...2,526,597 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PLCH2 phospholipase C eta 2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,415,943...2,505,532
Ensembl chr 1:2,425,980...2,505,532 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP
EXP		 ClinVar Annotator: match by term: Left ventricular noncompaction 8
ClinVar Annotator: match by term: Left ventricular noncompaction 8 | ClinVar Annotator: match by term: PRDM16-related condition
ClinVar Annotator: match by term: Left ventricular noncompaction 8 | ClinVar Annotator: match by term: PRDM16-related condition | ClinVar Annotator: match by term: PRDM16-related congenital heart disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1LL		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23768516 PMID:24033266 More... NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PRKCZ protein kinase C zeta IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PRXL2B peroxiredoxin like 2B IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,586,523...2,591,468
Ensembl chr 1:2,586,491...2,591,469 		JBrowse link
G PUSL1 pseudouridine synthase like 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,308,597...1,311,677
Ensembl chr 1:1,308,597...1,311,677 		JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,391,841...2,405,436
Ensembl chr 1:2,391,775...2,405,442 		JBrowse link
G RNF223 ring finger protein 223 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,070,967...1,074,306
Ensembl chr 1:1,070,967...1,074,306 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,280,436...1,292,025
Ensembl chr 1:1,280,436...1,292,029 		JBrowse link
G SDF4 stromal cell derived factor 4 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,216,931...1,232,001
Ensembl chr 1:1,216,931...1,232,031 		JBrowse link
G SKI SKI proto-oncogene IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC35E2A solute carrier family 35 member E2A (pseudogene) IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,727,385...1,746,070
Ensembl chr 1:1,734,690...1,739,557 		JBrowse link
G SLC35E2B solute carrier family 35 member E2B IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,661,478...1,692,795
Ensembl chr 1:1,659,529...1,692,795 		JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,541,673...1,574,863
Ensembl chr 1:1,541,673...1,574,863 		JBrowse link
G TAS1R3 taste 1 receptor member 3 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,331,280...1,335,314
Ensembl chr 1:1,331,280...1,335,314 		JBrowse link
G TMEM240 transmembrane protein 240 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,534,778...1,540,624
Ensembl chr 1:1,534,778...1,540,624 		JBrowse link
G TMEM52 transmembrane protein 52 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,917,591...1,919,279
Ensembl chr 1:1,917,590...1,919,279 		JBrowse link
G TMEM88B transmembrane protein 88B IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,425,871...1,430,255
Ensembl chr 1:1,425,871...1,430,255 		JBrowse link
G TNFRSF14 TNF receptor superfamily member 14 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,554,234...2,563,829
Ensembl chr 1:2,555,639...2,565,382 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,211,340...1,214,153
Ensembl chr 1:1,211,326...1,214,153 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,636,986...2,801,693
Ensembl chr 1:2,636,986...2,801,693 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,173,880...1,197,936
Ensembl chr 1:1,173,880...1,197,936 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,253,912...1,273,854
Ensembl chr 1:1,253,909...1,273,864 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,435,690...1,442,882
Ensembl chr 1:1,434,861...1,442,882 		JBrowse link
dilated cardiomyopathy 1M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSRP3 cysteine and glycine rich protein 3 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1M
OMIM:607482
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8994428 PMID:9039266 PMID:12507422 PMID:12642359 PMID:14567970 More... NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571 		JBrowse link
dilated cardiomyopathy 1MM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYBPC3 myosin binding protein C3 IAGP
EXP		 ClinVar Annotator: match by term: Left ventricular noncompaction 10
ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1MM
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:950554 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
dilated cardiomyopathy 1NN term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1NN
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1760348 PMID:10064593 PMID:17603482 PMID:17603483 PMID:17603485 More... NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
dilated cardiomyopathy 1O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1O
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1O
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1575858 PMID:9536098 PMID:12166651 PMID:15034580 PMID:16199547 More... NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G GOLT1B golgi transport 1B IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr12:21,501,789...21,518,408
Ensembl chr12:21,501,781...21,518,408 		JBrowse link
G GYS2 glycogen synthase 2 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr12:21,532,577...21,604,847
Ensembl chr12:21,536,107...21,604,847 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600 		JBrowse link
G LDHB lactate dehydrogenase B IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr12:21,635,342...21,657,842
Ensembl chr12:21,635,342...21,757,857 		JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr12:21,437,655...21,471,250
Ensembl chr12:21,437,615...21,471,250 		JBrowse link
G RECQL RecQ like helicase IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr12:21,468,910...21,501,635
Ensembl chr12:21,468,910...21,501,669 		JBrowse link
G SPX spexin hormone IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr12:21,526,296...21,532,947
Ensembl chr12:21,526,296...21,541,249 		JBrowse link
Dilated Cardiomyopathy 1OO term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VEZF1 vascular endothelial zinc finger 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1OO ClinVar
OMIM		 PMID:36657711 NCBI chr17:57,971,552...57,988,254
Ensembl chr17:57,971,547...57,988,259 		JBrowse link
dilated cardiomyopathy 1P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP85L centrosomal protein 85 like IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1P ClinVar PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16829191 More... NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075 		JBrowse link
G PLN phospholamban IAGP
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1P
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16829191 More... NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716 		JBrowse link
dilated cardiomyopathy 1R term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1R ClinVar
OMIM		 PMID:676951 PMID:2255271 PMID:9536098 PMID:9563954 PMID:10494087 More... NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G GJD2-DT GJD2 divergent transcript IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1R ClinVar PMID:676951 PMID:2255271 PMID:9536098 PMID:9563954 PMID:10494087 More... NCBI chr15:34,755,084...34,812,923
Ensembl chr15:34,755,084...34,813,505 		JBrowse link
dilated cardiomyopathy 1S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DES desmin IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:29253866 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DSC2 desmocollin 2 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 PMID:28492532 NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,840...31,102,522 		JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 PMID:28492532 PMID:29253866 PMID:32826072 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714 		JBrowse link
G DSP-AS1 DSP antisense RNA 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 PMID:28492532 PMID:29253866 NCBI chr 6:7,540,451...7,543,083
Ensembl chr 6:7,540,447...7,543,114 		JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar 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: Dilated cardiomyopathy 1S ClinVar NCBI chr 6:112,236,596...112,306,683 JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:11897440 PMID:15219508 PMID:15539782 PMID:16061563 PMID:16537768 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LOC126861897 BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1S
ClinVar Annotator: match by term: Left ventricular noncompaction 5		 ClinVar PMID:564455 PMID:12881443 PMID:15483641 PMID:15556047 PMID:18403758 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: Dilated cardiomyopathy 1S ClinVar PMID:1976466 PMID:7581410 PMID:7796500 PMID:8533830 PMID:9172070 More... NCBI chr14:23,424,400...23,425,599 JBrowse link
G MHRT myosin heavy chain associated RNA transcript IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:564455 PMID:737223 PMID:901918 PMID:9536098 PMID:11861413 More... NCBI chr14:23,415,450...23,417,595 JBrowse link
G MYH7 myosin heavy chain 7 IAGP
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1S
ClinVar Annotator: match by term: Left ventricular noncompaction 5
ClinVar Annotator: match by term: Biventricular noncompaction cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy 1S
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:564455 PMID:737223 PMID:901918 PMID:1218377 PMID:1423936 More... NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYL2 myosin light chain 2 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:18533079 PMID:20173211 PMID:21310275 PMID:22958901 PMID:23299917 More... NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,910,819...110,921,443 		JBrowse link
G NEXN nexilin F-actin binding protein IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:19881492 PMID:20970104 PMID:23299917 PMID:24033266 PMID:24503780 More... NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895 		JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G RBM20 RNA binding motif protein 20 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:19712804 PMID:20590677 PMID:22004663 PMID:22466703 PMID:24033266 More... NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,468 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:18572189 PMID:19439414 PMID:20215591 PMID:20459070 PMID:21056975 More... NCBI chr 3:52,451,100...52,454,041
Ensembl chr 3:52,451,100...52,454,041 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 PMID:25589632 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 PMID:25589632 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G VCL vinculin IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:24033266 PMID:24062880 PMID:24503780 PMID:25741868 PMID:27532257 More... NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363 		JBrowse link
dilated cardiomyopathy 1T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMPO thymopoietin IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1T ClinVar PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 More... NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,579...98,550,351 		JBrowse link
dilated cardiomyopathy 1U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSEN1 presenilin 1 IAGP
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1U
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 More... NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
dilated cardiomyopathy 1V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129932678 ATAC-STARR-seq lymphoblastoid silent region 1893 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1V ClinVar
G PSEN2 presenilin 2 IAGP
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1V
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9384602 PMID:14623725 PMID:14769392 PMID:15130954 PMID:15663477 More... NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726 		JBrowse link
dilated cardiomyopathy 1W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3M1 adaptor related protein complex 3 subunit mu 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1W ClinVar PMID:11815424 PMID:16236538 PMID:21681106 NCBI chr10:74,120,255...74,150,828
Ensembl chr10:74,120,255...74,150,842 		JBrowse link
G LOC130004109 ATAC-STARR-seq lymphoblastoid active region 3587 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1W ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:73,998,145...73,998,344 JBrowse link
G VCL vinculin IAGP
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1W
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11815424 PMID:15331426 PMID:15769782 PMID:16199547 More... NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363 		JBrowse link
dilated cardiomyopathy 1X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKTN fukutin IAGP
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1X
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Dilated cardiomyopathy 1X
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FKTN-AS1 FKTN antisense RNA 1 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS ClinVar PMID:25741868 NCBI chr 9:105,554,035...105,558,306
Ensembl chr 9:105,554,035...105,558,304 		JBrowse link
dilated cardiomyopathy 1Y term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130057222 ATAC-STARR-seq lymphoblastoid silent region 6507 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y ClinVar PMID:25741868 PMID:31270709 NCBI chr15:63,048,194...63,048,853 JBrowse link
G MED12 mediator complex subunit 12 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y ClinVar PMID:28492532 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G TPM1 tropomyosin 1 IAGP
EXP		 ClinVar Annotator: match by term: Left ventricular noncompaction 9
ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y | ClinVar Annotator: match by term: TPM1-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915 		JBrowse link
G TPM1-AS TPM1 antisense RNA IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y ClinVar PMID:25741868 PMID:31270709 NCBI chr15:63,046,034...63,049,387
Ensembl chr15:63,046,034...63,049,387 		JBrowse link
dilated cardiomyopathy 1Z term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNNC1 troponin C1, slow skeletal and cardiac type IAGP
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1Z
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11385718 PMID:15542288 PMID:16199547 PMID:16302972 More... NCBI chr 3:52,451,100...52,454,041
Ensembl chr 3:52,451,100...52,454,041 		JBrowse link
dilated cardiomyopathy 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAAF3 dynein axonemal assembly factor 3 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 2A 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 2A ClinVar PMID:25741868 PMID:28492532 NCBI chr19:55,159,309...55,166,904 JBrowse link
G LOC130065090 ATAC-STARR-seq lymphoblastoid silent region 11016 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 2A ClinVar PMID:28492532 NCBI chr19:55,160,627...55,160,736 JBrowse link
G TNNI3 troponin I3, cardiac type IAGP
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 2A
ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10806205 More... NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 2A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
dilated cardiomyopathy 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATAD1 GATA zinc finger domain containing 1 IAGP
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 2B
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17576681 PMID:21965549 PMID:24033266 PMID:25741868 More... NCBI chr 7:92,447,482...92,495,769
Ensembl chr 7:92,447,482...92,460,075 		JBrowse link
G LOC129998793 ATAC-STARR-seq lymphoblastoid silent region 18371 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 2B ClinVar PMID:21965549 PMID:24033266 PMID:25741868 PMID:27114410 PMID:28492532 More...
dilated cardiomyopathy 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC30 coiled-coil domain containing 30 IAGP ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2c ClinVar PMID:25741868 PMID:28492532 PMID:29754768 NCBI chr 1:42,456,107...42,657,190
Ensembl chr 1:42,463,221...42,657,190 		JBrowse link
G LOC129930344 ATAC-STARR-seq lymphoblastoid active region 894 IAGP ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2c ClinVar PMID:28492532 PMID:29754768
G PPCS phosphopantothenoylcysteine synthetase IAGP ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2c ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29754768 NCBI chr 1:42,456,341...42,473,417
Ensembl chr 1:42,456,117...42,473,385 		JBrowse link
dilated cardiomyopathy 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL3L ribosomal protein L3 like IAGP ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2D OMIM
ClinVar		 PMID:25741868 PMID:32514796 PMID:32870709 PMID:35323613 PMID:37308880 NCBI chr16:1,943,974...1,954,689
Ensembl chr16:1,943,974...1,957,606 		JBrowse link
dilated cardiomyopathy 2E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JPH2 junctophilin 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2E OMIM
ClinVar		 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26718681 PMID:28254189 More... NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188 		JBrowse link
dilated cardiomyopathy 2F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAG5 BAG cochaperone 5 IAGP
ISS		 ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2F
OMIM:619747		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:35044787 NCBI chr14:103,556,551...103,562,657
Ensembl chr14:103,556,545...103,562,657 		JBrowse link
dilated cardiomyopathy 2G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMOD2 leiomodin 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2G OMIM
ClinVar		 PMID:25741868 PMID:31517052 PMID:34888509 PMID:35082396 NCBI chr 7:123,655,866...123,664,290
Ensembl chr 7:123,655,866...123,664,290 		JBrowse link
Dilated Cardiomyopathy 2H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GET3 guided entry of tail-anchored proteins factor 3, ATPase IAGP ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2H OMIM
ClinVar		 PMID:31461301 NCBI chr19:12,737,106...12,748,323
Ensembl chr19:12,737,139...12,748,323 		JBrowse link
Dilated Cardiomyopathy 2I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAP2 cyclase associated actin cytoskeleton regulatory protein 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2I OMIM
ClinVar		 PMID:25741868 PMID:30518548 PMID:33083013 PMID:34862840 NCBI chr 6:17,393,595...17,557,780
Ensembl chr 6:17,393,595...17,557,780 		JBrowse link
Dilated Cardiomyopathy 2J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLII FLII actin remodeling protein IAGP ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2j OMIM
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
dilated cardiomyopathy 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMD dystrophin IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar
OMIM		 PMID:1549596 PMID:1644931 PMID:2691353 PMID:7581396 PMID:7599638 More... NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar NCBI chr  X:154,401,236...154,412,101
Ensembl chr  X:154,401,236...154,412,112 		JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar PMID:25741868 NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939 		JBrowse link
G LOC130068869 ATAC-STARR-seq lymphoblastoid silent region 21101 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar NCBI chr  X:154,411,526...154,412,065 JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G SNTA1 syntrophin alpha 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar PMID:25741868 PMID:28492532 NCBI chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
Dilated Cardiomyopathy with Left Ventricular Noncompaction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 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: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29447731 PMID:31110529 PMID:31333075 More... NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
G ALPK3 alpha kinase 3 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr15:84,817,356...84,873,479
Ensembl chr15:84,817,356...84,873,479 		JBrowse link
G C2orf49 chromosome 2 open reading frame 49 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr 2:105,337,540...105,385,899
Ensembl chr 2:105,337,532...105,349,211 		JBrowse link
G CBL Cbl proto-oncogene IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CTNNA3 catenin alpha 3 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr10:65,912,523...67,763,594
Ensembl chr10:65,912,457...67,763,637 		JBrowse link
G DES desmin IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:27697855 PMID:27930701 PMID:28492532 More... NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:19937601 PMID:25741868 PMID:28492532 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr  X:154,401,236...154,412,101
Ensembl chr  X:154,401,236...154,412,112 		JBrowse link
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31333075 More... NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008 		JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:20129281 PMID:20152563 PMID:21606396 PMID:21636032 PMID:21723241 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714 		JBrowse link
G DTNA dystrobrevin alpha IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:34,493,312...34,891,844
Ensembl chr18:34,493,291...34,891,844 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31333075 More... NCBI chr 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128 		JBrowse link
G FHL2 four and a half LIM domains 2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr 2:105,357,712...105,438,529
Ensembl chr 2:105,357,712...105,438,513 		JBrowse link
G GJD2-DT GJD2 divergent transcript IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:34,755,084...34,812,923
Ensembl chr15:34,755,084...34,813,505 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:17646576 PMID:20662977 PMID:24569893 PMID:25741868 PMID:26688388 More... NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958 		JBrowse link
G JPH2 junctophilin 2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:34814702 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: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:26220970 PMID:28492532 PMID:29334134 More... NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939 		JBrowse link
G LDB3 LIM domain binding 3 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072 		JBrowse link
G LOC110121486 VISTA enhancer hs2143 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:86,684,072...86,689,569 JBrowse link
G LOC114827851 VISTA enhancer hs2155 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr14:23,404,568...23,409,443 JBrowse link
G LOC126806424 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179456337-179457536 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:23975875 PMID:25589632 PMID:28492532 PMID:32659924 NCBI chr 2:178,591,610...178,592,809 JBrowse link
G LOC126806431 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179595719-179596918 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:178,730,992...178,732,191 JBrowse link
G LOC126861897 BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:12707239 PMID:15556047 PMID:19412328 PMID:22337857 PMID:22958901 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: Left ventricular noncompaction cardiomyopathy ClinVar PMID:12707239 PMID:15858117 PMID:17125710 PMID:18403758 PMID:18953637 More... NCBI chr14:23,424,400...23,425,599 JBrowse link
G LOC129935184 ATAC-STARR-seq lymphoblastoid active region 16809 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:32880476
G LOC130068869 ATAC-STARR-seq lymphoblastoid silent region 21101 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr  X:154,411,526...154,412,065 JBrowse link
G MHRT myosin heavy chain associated RNA transcript IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:12707239 PMID:15556047 PMID:19412328 PMID:22337857 PMID:22958901 More... NCBI chr14:23,415,450...23,417,595 JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:925171 PMID:12818575 PMID:18258667 PMID:19574547 PMID:20624503 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:27789736 PMID:28491533 More... NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:1430197 PMID:1430834 PMID:1552912 PMID:7731997 PMID:8533830 More... NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYLK2 myosin light chain kinase 2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr20:31,819,356...31,834,684
Ensembl chr20:31,819,308...31,834,689 		JBrowse link
G MYPN myopalladin IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29447731 PMID:30847666 PMID:31110529 More... NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NEXN nexilin F-actin binding protein IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:34540771 NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895 		JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:15489853 PMID:25741868 PMID:28492532 PMID:34540771 NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:23768516 PMID:25741868 PMID:31333075 PMID:31568572 PMID:34540771 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:34540771 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RBM20 RNA binding motif protein 20 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:27496873 PMID:27531932 More... NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,468 		JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction		 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 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: Left ventricular noncompaction cardiomyopathy ClinVar PMID:12354768 PMID:12820704 PMID:15466642 PMID:15840476 PMID:16540748 More... NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:19438153 PMID:19700766 PMID:20530761 PMID:24033266 PMID:24342716 More... NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TCAP titin-cap IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:30847666 PMID:31983221 NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 PMID:37477868 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 3:52,451,100...52,454,041
Ensembl chr 3:52,451,100...52,454,041 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:7592712 PMID:15774859 PMID:17010989 PMID:17872964 PMID:23690394 More... NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:2025668 PMID:7898523 PMID:9536098 PMID:12818575 PMID:12881443 More... NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G TPM1 tropomyosin 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 PMID:34540771 NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:18948003 PMID:22335739 PMID:23975875 PMID:24033266 PMID:24395473 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:34540771 NCBI chr 2:178,776,926...178,779,963
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:18948003 PMID:22335739 PMID:23975875 PMID:24395473 PMID:25589632 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G VCL vinculin IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction ClinVar PMID:11815424 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363 		JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin IAGP
EXP		 ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:3198322 PMID:9536098 PMID:12101406 PMID:12802069 PMID:15941723 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714 		JBrowse link
G DSP-AS1 DSP antisense RNA 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis ClinVar PMID:16199547 PMID:20716751 PMID:21606396 PMID:24033266 PMID:24503780 More... NCBI chr 6:7,540,451...7,543,083
Ensembl chr 6:7,540,447...7,543,114 		JBrowse link
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C IAGP
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2007407 PMID:2270059 PMID:2526018 PMID:2733290 PMID:4684700 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ClinVar PMID:18585512 PMID:19638735 PMID:24033266 PMID:25741868 PMID:26084686 More... NCBI chr 1:156,129,902...156,131,101 JBrowse link
G LOC129931597 ATAC-STARR-seq lymphoblastoid silent region 1421 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ClinVar PMID:12920062 PMID:13129702 PMID:14985400 PMID:15539782 PMID:18414213 More...
Fabry Disease, Cardiac Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLA galactosidase alpha IAGP ClinVar Annotator: match by term: Fabry disease, cardiac variant ClinVar PMID:105759 PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 More... NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough IAGP ClinVar Annotator: match by term: Fabry disease, cardiac variant ClinVar PMID:105759 PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 More... NCBI chr  X:101,391,011...101,414,133
Ensembl chr  X:101,391,011...101,412,297 		JBrowse link
geleophysic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 IAGP ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar PMID:7738200 PMID:7870075 PMID:8281141 PMID:8430317 PMID:8563763 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G LOC113939944 Sharpr-MPRA regulatory region 9539 IAGP ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar PMID:17253931 PMID:17663468 PMID:24033266 PMID:24311428 PMID:24941995 More... NCBI chr15:48,520,532...48,520,826 JBrowse link
G LOC126862124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 IAGP ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar PMID:9399842 PMID:11524736 PMID:11748851 PMID:12938084 PMID:14695540 More... NCBI chr15:48,472,369...48,473,568 JBrowse link
G LOC130057019 ATAC-STARR-seq lymphoblastoid silent region 6417 IAGP ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar PMID:16835936 PMID:19839986 PMID:24033266 PMID:25741868 PMID:26272055 More... NCBI chr15:48,644,684...48,644,733 JBrowse link
G LOC130057020 ATAC-STARR-seq lymphoblastoid silent region 6418 IAGP ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar NCBI chr15:48,644,834...48,644,963 JBrowse link
geleophysic dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 IAGP
ISS		 ClinVar Annotator: match by term: Geleophysic dysplasia 1
ClinVar Annotator: match by term: ADAMTSL2-related condition | ClinVar Annotator: match by term: Geleophysic dysplasia 1
OMIM:231050		 ClinVar
MouseDO
OMIM		 PMID:18677313 PMID:20301776 PMID:21415077 PMID:24014090 PMID:25741868 More... NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
geleophysic dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Geleophysic dysplasia 2 ClinVar
OMIM		 PMID:627879 PMID:948948 PMID:1852206 PMID:2005308 PMID:2254511 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G LOC113939944 Sharpr-MPRA regulatory region 9539 IAGP ClinVar Annotator: match by term: Geleophysic dysplasia 2 ClinVar PMID:25741868 PMID:28492532 PMID:28659821 NCBI chr15:48,520,532...48,520,826 JBrowse link
G LOC126862124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 IAGP ClinVar Annotator: match by term: Geleophysic dysplasia 2 ClinVar PMID:9399842 PMID:10486319 PMID:11175294 PMID:11524736 PMID:11748851 More... NCBI chr15:48,472,369...48,473,568 JBrowse link
G LOC130057019 ATAC-STARR-seq lymphoblastoid silent region 6417 IAGP ClinVar Annotator: match by term: Geleophysic dysplasia 2 ClinVar PMID:25741868 PMID:27906200 PMID:27930701 PMID:28492532 NCBI chr15:48,644,684...48,644,733 JBrowse link
geleophysic dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130006032 ATAC-STARR-seq lymphoblastoid silent region 3535 IAGP ClinVar Annotator: match by term: Geleophysic dysplasia 3 ClinVar PMID:25741868 PMID:28492532 PMID:33082559 NCBI chr11:65,547,591...65,547,770 JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP ClinVar Annotator: match by term: Geleophysic dysplasia 3 ClinVar
OMIM		 PMID:25741868 PMID:27068007 PMID:28492532 PMID:30887145 PMID:33082559 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
Hypertelorism and Tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 IAGP ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
hypertrichotic osteochondrodysplasia Cantu type 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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type
OMIM:239850
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:10398267 PMID:15034580 PMID:16199547 PMID:16835932 More... NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 EXP
ISS
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:239850
ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type
ClinVar Annotator: match by term: Cantu syndrome		 CTD
MouseDO
ClinVar		 PMID:24176758 PMID:24700710 PMID:25741868 PMID:28492532 PMID:28842488 More... NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600 		JBrowse link
hypertrophic cardiomyopathy 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASC3 CASC3 exon junction complex subunit IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:40,140,537...40,172,171
Ensembl chr17:40,140,318...40,172,171 		JBrowse link
G CDC6 cell division cycle 6 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657 		JBrowse link
G CSF3 colony stimulating factor 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G GRB7 growth factor receptor bound protein 7 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:39,737,938...39,747,285
Ensembl chr17:39,737,927...39,747,291 		JBrowse link
G GSDMA gasdermin A IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:39,963,004...39,977,768
Ensembl chr17:39,953,263...39,977,768 		JBrowse link
G GSDMB gasdermin B IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:39,904,595...39,918,635
Ensembl chr17:39,904,595...39,919,854 		JBrowse link
G IKZF3 IKAROS family zinc finger 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:39,757,715...39,864,312
Ensembl chr17:39,757,718...39,864,312 		JBrowse link
G LRRC3C leucine rich repeat containing 3C IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:39,927,732...39,944,999
Ensembl chr17:39,927,732...39,944,999 		JBrowse link
G MED24 mediator complex subunit 24 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:40,019,104...40,054,408
Ensembl chr17:40,019,097...40,061,215 		JBrowse link
G MIEN1 migration and invasion enhancer 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:39,728,510...39,730,532
Ensembl chr17:39,728,496...39,730,532 		JBrowse link
G MSL1 MSL complex subunit 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:40,121,971...40,136,917
Ensembl chr17:40,121,971...40,136,917 		JBrowse link
G NR1D1 nuclear receptor subfamily 1 group D member 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:40,092,793...40,100,589
Ensembl chr17:40,092,793...40,100,589 		JBrowse link
G ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:39,921,041...39,927,601
Ensembl chr17:39,921,041...39,927,601 		JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797 		JBrowse link
G PNMT phenylethanolamine N-methyltransferase IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:39,668,019...39,670,475
Ensembl chr17:39,667,981...39,670,475 		JBrowse link
G PSMD3 proteasome 26S subunit, non-ATPase 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:39,980,807...39,997,959
Ensembl chr17:39,980,807...39,997,959 		JBrowse link
G RAPGEFL1 Rap guanine nucleotide exchange factor like 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:40,177,010...40,195,650
Ensembl chr17:40,177,010...40,195,656 		JBrowse link
G TCAP titin-cap IAGP
EXP		 ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25
ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1N | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25
ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:10655062 PMID:12507422 PMID:15582318 PMID:16352453 More... NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		JBrowse link
G THRA thyroid hormone receptor alpha IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:40,062,193...40,093,867
Ensembl chr17:40,058,290...40,093,867 		JBrowse link
G TMPO thymopoietin IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 ClinVar PMID:16247757 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,579...98,550,351 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1N ClinVar PMID:3144325 PMID:3349559 PMID:9241277 PMID:10806205 PMID:11735257 More... NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G WIPF2 WAS/WASL interacting protein family member 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:40,219,304...40,284,136
Ensembl chr17:40,219,304...40,284,136 		JBrowse link
G ZPBP2 zona pellucida binding protein 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr17:39,868,202...39,877,896
Ensembl chr17:39,868,202...39,877,896 		JBrowse link
Left Ventricular Hypertrophy 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 IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:22608503 PMID:22610116 PMID:23307537 PMID:25741868 PMID:25790160 More... NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACE angiotensin I converting enzyme treatment
susceptibility		 IEA
EXP
ISO
IDA
IAGP		 CTD Direct Evidence: marker/mechanism
associated with Aortic Coarctation
associated with Anemia
protein:increased activity:lung, heart left ventricle, plasma (rat)
associated with Hypertension, Essential;DNA:deletion:intron:IVS16+1464-1751del (human)		 CTD
RGD		 PMID:8349331 PMID:15118671 PMID:10072897 PMID:9344638 PMID:15503682 More... RGD:1331525, RGD:12880015, RGD:12879391, RGD:11038918, RGD:8157600, RGD:8142350 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO RGD PMID:18544849 RGD:9685455 NCBI chr  X:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle EXP CTD Direct Evidence: marker/mechanism CTD PMID:10601118 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ADAM17 ADAM metallopeptidase domain 17 ISO associated with hypertension RGD PMID:23850346 RGD:13703040 NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732 		JBrowse link
G ADGRL4 adhesion G protein-coupled receptor L4 ISO RGD PMID:22606234 RGD:13838662 NCBI chr 1:78,889,764...79,006,730
Ensembl chr 1:78,889,764...79,282,124 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IEP associated with hypertension, overweight;protein:decreased expression:serum RGD PMID:22053557 RGD:5686385 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G ADRB1 adrenoceptor beta 1 ISO
IEP		 protein:decreased expression:left ventricle: RGD PMID:17143192 PMID:8181801 RGD:7241557, RGD:7241563 NCBI chr10:114,043,866...114,046,904
Ensembl chr10:114,043,866...114,046,904 		JBrowse link
G ADRB2 adrenoceptor beta 2 susceptibility IAGP associated with hypertension;DNA:polymorphism: :p.Q27E RGD PMID:17178264 RGD:1601120 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623 		JBrowse link
G ADRB3 adrenoceptor beta 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17345787 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599 		JBrowse link
G AGER advanced glycosylation end-product specific receptor IEP associated with Renal Insufficiency, Chronic; protein:decreased expression:plasma (human) RGD PMID:21470837 RGD:7243956 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G AGT angiotensinogen EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:10805403 PMID:14644620 PMID:14751847 PMID:18679781 PMID:20837116 More... 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 susceptibility IAGP associated with hypertension;DNA:polymorphism:3' utr:1166A>C RGD PMID:15612584 RGD:1601151 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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20467270 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974 		JBrowse link
G AHR aryl hydrocarbon receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:14644620 PMID:31016362 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta treatment ISO RGD PMID:25738576 RGD:13792675 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G ATP5PF ATP synthase peripheral stalk subunit F6 ISO associated with hypertension;protein:increased expression:heart left ventricle (rat) RGD PMID:25900768 RGD:11085539 NCBI chr21:25,724,500...25,735,653
Ensembl chr21:25,716,503...25,735,673 		JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO RGD PMID:18993028 RGD:2316133 NCBI chr 6:33,572,552...33,580,276
Ensembl chr 6:33,572,547...33,580,293 		JBrowse link
G BDKRB1 bradykinin receptor B1 ISO mRNA:increased expression:heart RGD PMID:12489796 RGD:704379 NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967 		JBrowse link
G BDKRB2 bradykinin receptor B2 ISO mRNA:increased expression:heart RGD PMID:12489796 RGD:704379 NCBI chr14:96,204,839...96,244,164
Ensembl chr14:96,204,679...96,244,166 		JBrowse link
G BMP10 bone morphogenetic protein 10 ISO associated with Hypertension;mRNA:increased expression:heart left ventricle RGD PMID:17921333 RGD:2302083 NCBI chr 2:68,860,909...68,871,397
Ensembl chr 2:68,860,909...68,871,397 		JBrowse link
G BRD4 bromodomain containing 4 ISO protein:increased expression:heart: RGD PMID:23939492 RGD:9586348 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G ISO mRNA:increased expression:ventricle (rat) RGD PMID:14615287 RGD:2316207 NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474 		JBrowse link
G CAT catalase ISO protein:decreased expression:heart left ventricle RGD PMID:19298531 RGD:5130755 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CCN2 cellular communication network factor 2 ISO RGD PMID:19707545 RGD:2314476 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CCND2 cyclin D2 ISO protein:increased expression:left ventricle: RGD PMID:26300251 RGD:151664604 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:heart RGD PMID:9321826 RGD:2293630 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CKB creatine kinase B EXP CTD Direct Evidence: marker/mechanism CTD PMID:11406506 NCBI chr14:103,519,667...103,522,830
Ensembl chr14:103,519,667...103,522,833 		JBrowse link
G CKM creatine kinase, M-type EXP CTD Direct Evidence: marker/mechanism CTD PMID:11406506 NCBI chr19:45,306,413...45,322,875
Ensembl chr19:45,306,413...45,322,875 		JBrowse link
G CMA1 chymase 1 IMP
EXP		 human gene in mouse model
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:14620933 PMID:14620933 RGD:5128600 NCBI chr14:24,505,353...24,508,265
Ensembl chr14:24,505,353...24,508,265 		JBrowse link
G COL1A1 collagen type I alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL3A1 collagen type III alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COQ7 coenzyme Q7, hydroxylase ISO associated with Hypertension;protein:altered expression:heart RGD PMID:17130255 RGD:2313649 NCBI chr16:19,067,614...19,083,097
Ensembl chr16:19,067,614...19,080,095 		JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO mRNA:decreased expression:left ventricle (rat) RGD PMID:11087261 RGD:1642796 NCBI chr 7:30,651,942...30,700,103
Ensembl chr 7:30,651,942...30,700,129 		JBrowse link
G CROT carnitine O-octanoyltransferase ISO mRNA:increased expression:heart left ventricle, cardiac muscle cell RGD PMID:14618266 RGD:1599987 NCBI chr 7:87,345,664...87,399,794
Ensembl chr 7:87,345,664...87,399,794 		JBrowse link
G CRP C-reactive protein IEP associated with Lupus Nephritis; protein:increased expression:serum RGD PMID:21076530 RGD:6907433 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CTF1 cardiotrophin 1 IEP associated with hypertension;protein:increased expression:plasma RGD PMID:15716706 RGD:1626411 NCBI chr16:30,895,846...30,903,560
Ensembl chr16:30,896,614...30,903,547 		JBrowse link
G CTNNB1 catenin beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO mRNA:increased expression:cardiac muscle tissue, left ventricle (rat) RGD PMID:19349910 RGD:4145630 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 no_association IAGP DNA:transition:5' utr:-344C>T (human) RGD PMID:9494027 PMID:11275936 RGD:4891150, RGD:4891151 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843 		JBrowse link
G DSC2 desmocollin 2 IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,840...31,102,522 		JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28611029 PMID:29802319 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714 		JBrowse link
G DUSP1 dual specificity phosphatase 1 treatment ISO RGD PMID:19347983 RGD:7771584 NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO associated with Hypertension, Renovascular and Diabetes Mellitus, Experimental;mRNA,protein:increased expression:heart left ventricle RGD PMID:14627492 RGD:7244172 NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572 		JBrowse link
G EDN1 endothelin 1 treatment ISO
EXP		 protein:increased expression:heart left ventricle (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:10601118 PMID:15486036 PMID:10543394 PMID:10601118 RGD:8661692, RGD:8662288 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:12624003 RGD:1580955 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP Associated with end stage renal disease RGD PMID:21602183 RGD:6906934 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G ESR2 estrogen receptor 2 IAGP RGD PMID:16280269 RGD:1581013 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO mRNA, protein:decreased expression:heart RGD PMID:23727574 RGD:9588322 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO associated with hypertension RGD PMID:16549517 RGD:155663564 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FN1 fibronectin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G FOXO3 forkhead box O3 ISO associated with Diabetes Mellitus, Type 2;protein:decreased phosphorylation:heart: RGD PMID:18192848 RGD:2293330 NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774 		JBrowse link
G FZD2 frizzled class receptor 2 ISO mRNA:increased expression:heart left ventricle RGD PMID:8762054 RGD:4107053 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GAA alpha glucosidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:11328962 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881 		JBrowse link
G GDF15 growth differentiation factor 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19505289 NCBI chr19:18,386,158...18,389,176
Ensembl chr19:18,374,731...18,389,176 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 treatment
severity		 IEP
ISO		 associated with Hypertension;protein:increased expression:lymphocyte RGD PMID:15097244 PMID:26224342 PMID:28759639 PMID:9618528 RGD:1625786, RGD:11534182, RGD:13513977, RGD:737775 NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556 		JBrowse link
G GSK3A glycogen synthase kinase 3 alpha ISO RGD PMID:17855351 RGD:10401823 NCBI chr19:42,230,190...42,242,602
Ensembl chr19:42,226,225...42,242,625 		JBrowse link
G HBEGF heparin binding EGF like growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9709397 NCBI chr 5:140,332,843...140,346,603
Ensembl chr 5:140,332,843...140,346,603 		JBrowse link
G HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 ISO mRNA,protein:increased expression:myocyte: RGD PMID:19471099 RGD:9693689 NCBI chr19:589,881...617,159
Ensembl chr19:589,881...617,159 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO mRNA,protein:increased expression:myocyte: RGD PMID:19471099 RGD:9693689 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958 		JBrowse link
G HRH2 histamine receptor H2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30310171 NCBI chr 5:175,658,071...175,710,756
Ensembl chr 5:175,658,030...175,710,756 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 susceptibility IAGP DNA:SNP:5'utr: (rs846910) (human) RGD PMID:21402901 RGD:329901915 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949 		JBrowse link
G JPH2 junctophilin 2 IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar 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: Left ventricular hypertrophy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO RGD PMID:18802029 RGD:7297042 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KCNK2 potassium two pore domain channel subfamily K member 2 ISO protein:increased expression:endocardium of left ventricle (rat) RGD PMID:23232841 RGD:9831114 NCBI chr 1:215,005,542...215,237,090
Ensembl chr 1:215,005,775...215,237,090 		JBrowse link
G LEPR leptin receptor ISO RGD PMID:18469142 RGD:5129122 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G LIFR LIF receptor subunit alpha ISO RGD PMID:15786720 RGD:1581858 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LOC126861898 BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:23,424,400...23,425,599 JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:19298531 RGD:5130755 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MEF2C myocyte enhancer factor 2C ISO RGD PMID:20041152 RGD:5131608 NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257 		JBrowse link
G MIR133A2 microRNA 133a-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chr20:62,564,912...62,565,013
Ensembl chr20:62,564,912...62,565,013 		JBrowse link
G MIR30A microRNA 30a IEP 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 MMP2 matrix metallopeptidase 2 ISO associated with Hypertension, Renovascular RGD PMID:23073243 RGD:8657108 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:25664255 RGD:14696732 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19289642 PMID:15367823 RGD:1582609 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 IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:16199542 PMID:16715312 More... 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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472269 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 treatment ISO RGD PMID:17592507 PMID:2950137 RGD:12792940, RGD:12792943 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
IAGP		 mRNA, protein:increased expression:heart left ventricle
ClinVar Annotator: match by term: Increased left ventricular wall thickness
ClinVar Annotator: match by term: Left ventricular hypertrophy		 ClinVar
RGD		 PMID:2136805 PMID:3203908 PMID:7883988 PMID:7909436 PMID:8614836 More... RGD:12792943 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYL3 myosin light chain 3 IAGP ClinVar Annotator: match by term: Increased left ventricular wall thickness ClinVar PMID:16754800 PMID:22958901 PMID:23549607 PMID:24033266 PMID:24111713 More... NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,111...46,882,178 		JBrowse link
G MYPN myopalladin IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:25741868 PMID:28492532 PMID:29447731 PMID:30847666 PMID:31110529 More... NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NCL nucleolin ISO protein:increased expression:heart RGD PMID:24608397 RGD:9686390 NCBI chr 2:231,453,531...231,464,484
Ensembl chr 2:231,453,531...231,483,641 		JBrowse link
G NEXN nexilin F-actin binding protein IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:24033266 PMID:28492532 NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895 		JBrowse link
G NFATC3 nuclear factor of activated T cells 3 ISO RGD PMID:9568714 RGD:1579956 NCBI chr16:68,085,370...68,229,259
Ensembl chr16:68,084,751...68,229,259 		JBrowse link
G NFATC4 nuclear factor of activated T cells 4 IMP human gene in a mouse model RGD PMID:9568714 RGD:1579956 NCBI chr14:24,366,911...24,379,604
Ensembl chr14:24,365,673...24,379,604 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA, protein:altered expression:cardiac myocyte (rat) RGD PMID:9747440 RGD:7794715 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NOX4 NADPH oxidase 4 ISO associated with hypertension RGD PMID:23850346 RGD:13703040 NCBI chr11:89,324,353...89,589,557
Ensembl chr11:89,324,353...89,498,187 		JBrowse link
G NPPA natriuretic peptide A ISO
EXP		 mRNA:increased expression:heart left ventricle
CTD Direct Evidence: marker/mechanism
associated with Kidney Failure, Chronic;mRNA:increased expression:heart		 CTD
RGD		 PMID:9455993 PMID:10755198 PMID:16272201 PMID:24013683 RGD:1580154, RGD:7297044 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 treatment IEP
ISO		 protein:increased expression:plasma
associated with Kidney Failure, Chronic
mRNA:increased expression:heart left ventricle		 RGD PMID:17118955 PMID:24013683 PMID:16272201 RGD:1642202, RGD:7297044, RGD:1580154 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 mRNA:increased expression:heart left ventricle RGD PMID:16272201 RGD:1580154 NCBI chr 1:153,678,688...153,693,992
Ensembl chr 1:153,678,688...153,693,992 		JBrowse link
G NPY neuropeptide Y IEP in dialysis patients with a NPY receptor Y2 mutation RGD PMID:20543711 RGD:7175091 NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO associated with Hypertension RGD PMID:22990325 RGD:11035227 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668 		JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 treatment ISO associated with morphine dependence RGD PMID:22304485 RGD:401965468 NCBI chr 4:148,078,764...148,445,508
Ensembl chr 4:148,078,762...148,444,698 		JBrowse link
G PAMR1 peptidase domain containing associated with muscle regeneration 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chr11:35,431,827...35,530,300
Ensembl chr11:35,431,823...35,530,300 		JBrowse link
G PBRM1 polybromo 1 ISO associated with Hypertension;protein:increased expression:heart left ventricle RGD PMID:23702776 RGD:9586349 NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917 		JBrowse link
G PDE1A phosphodiesterase 1A ISO RGD PMID:12834273 RGD:2312523 NCBI chr 2:182,140,041...182,716,797
Ensembl chr 2:182,139,968...182,523,359 		JBrowse link
G PDE2A phosphodiesterase 2A ISO RGD PMID:12834273 RGD:2312523 NCBI chr11:72,576,141...72,674,422
Ensembl chr11:72,576,141...72,674,591 		JBrowse link
G PDE3A phosphodiesterase 3A ISO RGD PMID:12834273 RGD:2312523 NCBI chr12:20,368,537...20,688,583
Ensembl chr12:20,368,537...20,688,583 		JBrowse link
G PLAU plasminogen activator, urokinase ISO RGD PMID:15631996 RGD:7241205 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35218467 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha IAGP DNA:snp:intron: (human) RGD PMID:11864924 RGD:1580229 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO associated with Hypertension RGD PMID:18360056 RGD:2301893 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:increased expression:heart (mouse) RGD PMID:18802029 RGD:7297042 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
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18344631 PMID:9568714 RGD:1579956 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278 		JBrowse link
G PPP3CB protein phosphatase 3 catalytic subunit beta IDA
ISO		 RGD PMID:16688406 PMID:9568714 RGD:1580706, RGD:1579956 NCBI chr10:73,436,433...73,496,024
Ensembl chr10:73,436,433...73,496,024 		JBrowse link
G PPP3R1 protein phosphatase 3 regulatory subunit B, alpha IDA
EXP
IAGP		 CTD Direct Evidence: marker/mechanism
DNA:insertion/deletion:promoter:		 CTD
RGD		 PMID:18344631 PMID:16688406 PMID:16209992 RGD:1580706, RGD:1580708 NCBI chr 2:68,178,857...68,252,532
Ensembl chr 2:68,178,857...68,256,237 		JBrowse link
G PPP5C protein phosphatase 5 catalytic subunit ISO RGD PMID:20875921 RGD:8693745 NCBI chr19:46,347,087...46,390,975
Ensembl chr19:46,347,087...46,392,981 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214 		JBrowse link
G PRKCA protein kinase C alpha ISO RGD PMID:12619877 RGD:1581273 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 RGD PMID:16900949 RGD:1581275 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 RGD PMID:15532718 RGD:1581272 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G PRKCZ protein kinase C zeta ISO RGD PMID:16900949 RGD:1581275 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:28522833 RGD:13432569 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G PTEN phosphatase and tensin homolog treatment ISO associated with Arteriovenous Fistula RGD PMID:15929827 PMID:22609523 RGD:1581281, RGD:12801498 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:18542928 RGD:2300276 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G PTH parathyroid hormone treatment IEP
IDA		 associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human)
associated with Kidney Failure, Chronic		 RGD PMID:23168286 PMID:22647434 RGD:7242699, RGD:7242899 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G PTK2 protein tyrosine kinase 2 ISO associated with Hypertension;protein:increased expression, increased serine and tyrosine phosphorylation:ventricle myocardium RGD PMID:12732587 RGD:729831 NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216 		JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO associated with Hypertension;protein:increased expression, increased phosphorylation:cardiac muscle cell RGD PMID:12124218 RGD:1642607 NCBI chr 8:27,310,506...27,459,391
Ensembl chr 8:27,311,482...27,459,391 		JBrowse link
G PTN pleiotrophin ISO protein:increased expression:heart left ventricle (rat) RGD PMID:21224495 RGD:10043833 NCBI chr 7:137,227,341...137,343,733
Ensembl chr 7:137,227,341...137,343,774 		JBrowse link
G PTPRF protein tyrosine phosphatase receptor type F EXP CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chr 1:43,522,051...43,623,666
Ensembl chr 1:43,525,187...43,623,666 		JBrowse link
G RAC1 Rac family small GTPase 1 ISO RGD PMID:12642504 RGD:1581295 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967 		JBrowse link
G RAPGEF3 Rap guanine nucleotide exchange factor 3 ISO protein:increased expression:heart (mouse) RGD PMID:24721545 RGD:9835365 NCBI chr12:47,734,363...47,758,880
Ensembl chr12:47,734,363...47,771,040 		JBrowse link
G RASA1 RAS p21 protein activator 1 ISO in males;protein:decreased expression:heart left ventricle (mouse) RGD PMID:24157234 RGD:9999450 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO associated with Hypertension;protein:increased expression:ventricle myocardium, heart left ventricle RGD PMID:18543397 RGD:2298779 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090 		JBrowse link
G REN renin ISO
EXP		 protein:decreased activity:plasma (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:8349331 PMID:18679781 PMID:22796710 RGD:6771379 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 RGD PMID:17316608 RGD:1642807 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998 		JBrowse link
G ROCK1 Rho associated coiled-coil containing protein kinase 1 ISO RGD PMID:17316608 RGD:1642807 NCBI chr18:20,946,906...21,111,813
Ensembl chr18:20,944,612...21,111,813 		JBrowse link
G ROCK2 Rho associated coiled-coil containing protein kinase 2 ISO RGD PMID:17316608 RGD:1642807 NCBI chr 2:11,179,759...11,345,437
Ensembl chr 2:11,179,759...11,348,330 		JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19289642 NCBI chr17:59,893,121...59,950,574
Ensembl chr17:59,893,046...59,950,574 		JBrowse link
G RYR1 ryanodine receptor 1 susceptibility IAGP DAN:SNPs:introns:rs2071090,rs10500279,rs2960321(human) RGD PMID:21828061 RGD:329812015 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SHC1 SHC adaptor protein 1 ISO RGD PMID:15998704 RGD:1643176 NCBI chr 1:154,962,298...154,974,376
Ensembl chr 1:154,962,298...154,974,395 		JBrowse link
G SIRT1 sirtuin 1 ISO associated with Hypertension;mRNA, protein:increased expression:heart
associated with Diabetes Mellitus, Type 2;protein:increased expression:myocardium		 RGD PMID:19142216 PMID:18192848 RGD:9495934, RGD:2293330 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390 		JBrowse link
G SIRT6 sirtuin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35798905 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 IEP
IAGP		 ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar
RGD		 PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... RGD:1580618 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO associated with Hypertension RGD PMID:19179646 RGD:6771336 NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO associated with Hypertension;protein:increased expression:heart left ventricle RGD PMID:23702776 RGD:9586349 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 ISO associated with Hypertension;protein:increased expression:heart left ventricle RGD PMID:23702776 RGD:9586349 NCBI chr 7:151,238,780...151,277,149
Ensembl chr 7:151,238,764...151,277,896 		JBrowse link
G STK11 serine/threonine kinase 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19289642 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G TGM2 transglutaminase 2 ISO RGD PMID:12702643 RGD:1302539 NCBI chr20:38,127,385...38,168,475
Ensembl chr20:38,127,385...38,166,578 		JBrowse link
G THRA thyroid hormone receptor alpha ISO associated with Myocardial Infarction;protein:increased expression:heart RGD PMID:17389455 RGD:2314321 NCBI chr17:40,062,193...40,093,867
Ensembl chr17:40,058,290...40,093,867 		JBrowse link
G THRB thyroid hormone receptor beta ISO associated with Myocardial Infarction;protein:decreased expression:heart RGD PMID:17389455 RGD:2314321 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP ClinVar Annotator: match by term: Increased left ventricular wall thickness
ClinVar Annotator: match by term: Left ventricular hypertrophy		 ClinVar
RGD		 PMID:15631686 PMID:16754800 PMID:19645627 PMID:21846512 PMID:22017532 More... RGD:1580232 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31983221 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31983221 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G UCN urocortin ISO associated with Hypertension;mRNA:increased expression:heart left ventricle RGD PMID:11087261 RGD:1642796 NCBI chr 2:27,307,400...27,308,445
Ensembl chr 2:27,307,400...27,308,445 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 IEP RGD PMID:12172318 RGD:1580350 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045 		JBrowse link
G XDH xanthine dehydrogenase treatment IMP associated with Renal Insufficiency, Chronic RGD PMID:21719783 RGD:7247645 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742 		JBrowse link
G XRCC3 X-ray repair cross complementing 3 susceptibility IAGP associated with hypertension; DNA:SNP:exon 7: p.T241M (rs861539) (Human) RGD PMID:29626209 RGD:401827272 NCBI chr14:103,697,617...103,715,451
Ensembl chr14:103,697,609...103,715,504 		JBrowse link
LONG-OLSEN-DISTELMAIER SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC112577596 Sharpr-MPRA regulatory region 3933 IAGP ClinVar Annotator: match by term: Long-Olsen-Distelmaier syndrome ClinVar NCBI chr 1:38,859,302...38,860,061 JBrowse link
G RRAGC Ras related GTP binding C IAGP ClinVar Annotator: match by term: Long-Olsen-Distelmaier syndrome ClinVar
OMIM		 PMID:25741868 NCBI chr 1:38,838,198...38,859,772
Ensembl chr 1:38,838,198...38,859,772 		JBrowse link
peripartum cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STAT3 signal transducer and activator of transcription 3 ISS MouseDO NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
Right Ventricular Hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO associated with Hypertension;protein:increased activity:heart right ventricle (rat) RGD PMID:7585810 RGD:8142368 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 treatment ISO RGD PMID:21357504 RGD:10041003 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO associated with Pulmonary Arterial Hypertension RGD PMID:26959484 RGD:329969898 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798 		JBrowse link
G CA9 carbonic anhydrase 9 ISO associated with Anoxia;protein:increased expression:heart right ventricle RGD PMID:16714773 RGD:2293204 NCBI chr 9:35,673,928...35,681,159
Ensembl chr 9:35,673,928...35,681,159 		JBrowse link
G CDH5 cadherin 5 ISO protein:decreased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr16:66,366,691...66,404,784
Ensembl chr16:66,366,690...66,404,784 		JBrowse link
G CSRP3 cysteine and glycine rich protein 3 ISO RGD PMID:11113014 RGD:1598503 NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571 		JBrowse link
G CTNND1 catenin delta 1 treatment ISO RGD PMID:25593290 RGD:38500244 NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:21294880 RGD:6480473 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177 		JBrowse link
G EGFR epidermal growth factor receptor treatment ISO RGD PMID:31264901 RGD:38599217 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G ENG endoglin ISO RGD PMID:20042709 RGD:11041178 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658 		JBrowse link
G GH1 growth hormone 1 treatment IDA associated with Aortic Valve Stenosis RGD PMID:20060348 RGD:9686081 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GJA1 gap junction protein alpha 1 EXP CTD Direct Evidence: therapeutic CTD PMID:36720419 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO protein:increased activity:heart right ventricel (rat) RGD PMID:23124027 RGD:13792786 NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556 		JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 ISO protein:increased expression:heart right ventricle RGD PMID:12955401 RGD:5132894 NCBI chr 4:173,526,091...173,530,229
Ensembl chr 4:173,524,969...173,530,229 		JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:Right Ventricular: RGD PMID:22711276 RGD:9590133 NCBI chr 1:32,292,083...32,333,626
Ensembl chr 1:32,292,083...32,333,635 		JBrowse link
G HDAC5 histone deacetylase 5 ISO protein:increased expression:Right Ventricular: RGD PMID:22711276 RGD:9590133 NCBI chr17:44,076,753...44,123,641
Ensembl chr17:44,076,746...44,123,702 		JBrowse link
G HMOX1 heme oxygenase 1 ISO
IEP		 RGD PMID:12230867 PMID:14587309 RGD:1598397, RGD:1598408 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G HTR1B 5-hydroxytryptamine receptor 1B ISO RGD PMID:11739290 RGD:1626449 NCBI chr 6:77,460,924...77,463,491
Ensembl chr 6:77,460,924...77,463,491 		JBrowse link
G IGF1 insulin like growth factor 1 treatment ISO RGD PMID:10090325 RGD:12904918 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 treatment ISO RGD PMID:10090325 RGD:12904918 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IL6 interleukin 6 treatment ISO associated with pulmonary arterial hypertension RGD PMID:26959484 RGD:329969898 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G JUP junction plakoglobin IAGP Naxos disease, OMIM:601214 DNA:deletion:CDS:2157delTG RGD PMID:10902626 RGD:1600286 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 treatment ISO associated with Pulmonary Arterial Hypertension RGD PMID:26959484 RGD:329969898 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
G LEPR leptin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:30689673 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G ME1 malic enzyme 1 ISO mRNA:increased expression:right ventricle RGD PMID:23794090 RGD:151361111 NCBI chr 6:83,210,402...83,431,051
Ensembl chr 6:83,210,402...83,431,051 		JBrowse link
G ME2 malic enzyme 2 ISO mRNA:increased expression:right and right ventricles RGD PMID:23794090 RGD:151361111 NCBI chr18:50,879,118...50,954,257
Ensembl chr18:50,879,080...50,954,257 		JBrowse link
G MED13 mediator complex subunit 13 ISO associated with Hypertension, Pulmonary RGD PMID:25287062 RGD:9681715 NCBI chr17:61,942,605...62,065,278
Ensembl chr17:61,942,605...62,065,278 		JBrowse link
G MIR20A microRNA 20a EXP CTD Direct Evidence: marker/mechanism CTD PMID:32720422 NCBI chr13:91,351,065...91,351,135
Ensembl chr13:91,351,065...91,351,135 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO associated with Hypertension, Pulmonary; protein:increased expression:heart RGD PMID:17913382 RGD:5130174 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO associated with Hypertension, Pulmonary; protein:increased expression:heart RGD PMID:17913382 RGD:5130174 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MTOR mechanistic target of rapamycin kinase treatment ISO RGD PMID:21357504 RGD:10041003 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G MTPN myotrophin ISO RGD PMID:10329199 RGD:1581047 NCBI chr 7:135,926,760...135,977,359
Ensembl chr 7:135,926,760...135,977,359 		JBrowse link
G MYH4 myosin heavy chain 4 ISO associated with Heart Failure;protein:decreased expression:diaphragm RGD PMID:25060722 RGD:9686065 NCBI chr17:10,443,263...10,469,559
Ensembl chr17:10,443,290...10,469,559 		JBrowse link
G NFATC3 nuclear factor of activated T cells 3 ISO RGD PMID:9568714 RGD:1579956 NCBI chr16:68,085,370...68,229,259
Ensembl chr16:68,084,751...68,229,259 		JBrowse link
G NFATC4 nuclear factor of activated T cells 4 IMP human gene in a mouse model RGD PMID:9568714 RGD:1579956 NCBI chr14:24,366,911...24,379,604
Ensembl chr14:24,365,673...24,379,604 		JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:17913382 RGD:5130174 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 associated with Hypertension, Pulmonary RGD PMID:22022327 RGD:7794708 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NPPA natriuretic peptide A ISO RGD PMID:2136863 RGD:7247720 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345 		JBrowse link
G NRF1 nuclear respiratory factor 1 ISO mRNA:increased expression:hear right ventricle RGD PMID:17704287 RGD:2302404 NCBI chr 7:129,611,720...129,757,076
Ensembl chr 7:129,611,720...129,757,082 		JBrowse link
G PDE5A phosphodiesterase 5A IEP
ISO		 mRNA, protein:increased expression:myocardium RGD PMID:17606845 PMID:17606845 RGD:2314467, RGD:2314467 NCBI chr 4:119,494,403...119,628,804
Ensembl chr 4:119,494,397...119,628,804 		JBrowse link
G PLAT plasminogen activator, tissue type ISO protein:increased expression:heart right ventricle, heart left ventricle (rat) RGD PMID:9405184 RGD:11080746 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO protein:decreased expression:heart right ventricle (rat) RGD PMID:23152488 RGD:7242015 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:9568714 PMID:16799071 RGD:1579956, RGD:1580700 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278 		JBrowse link
G PPP3CB protein phosphatase 3 catalytic subunit beta ISO RGD PMID:9568714 PMID:16496058 RGD:1579956, RGD:1580703 NCBI chr10:73,436,433...73,496,024
Ensembl chr10:73,436,433...73,496,024 		JBrowse link
G PRKCA protein kinase C alpha ISO RGD PMID:15532718 RGD:1581272 NCBI chr17:66,302,613...66,810,743
Ensembl chr17:66,302,613...66,810,743 		JBrowse link
G PRKCD protein kinase C delta ISO RGD PMID:15532718 RGD:1581272 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G PTK2 protein tyrosine kinase 2 ISO associated with Hypertension, Pulmonary;protein:increased phosphorylation:ventricle myocardium RGD PMID:17913382 RGD:5130174 NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Right ventricular hypertrophy ClinVar PMID:11992261 PMID:12325025 PMID:12634870 PMID:12717436 PMID:12960218 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RFC1 replication factor C subunit 1 ISO protein:increased expression:heart right ventricle (rat) RGD PMID:22720015 RGD:401940165 NCBI chr 4:39,287,456...39,366,362
Ensembl chr 4:39,287,456...39,366,375 		JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO mRNA:increased expression:right ventricle RGD PMID:23794090 RGD:151361111 NCBI chr19:46,774,883...46,788,594
Ensembl chr19:46,774,883...46,788,594 		JBrowse link
G SLC39A12 solute carrier family 39 member 12 severity ISO RGD PMID:26258299 PMID:26258299 RGD:10401832, RGD:10401832 NCBI chr10:17,951,918...18,043,285
Ensembl chr10:17,951,839...18,043,292 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO mRNA:increased expression:right and left ventricles RGD PMID:23794090 RGD:151361111 NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,023...87,869,507 		JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO mRNA:increased expression:right ventricle myocardium RGD PMID:22588937 RGD:6771239 NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981 		JBrowse link
G TGFA transforming growth factor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:18424623 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:increased expression:pulmonary artery RGD PMID:17213961 RGD:1601553 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TNF tumor necrosis factor treatment ISO associated with Pulmonary Arterial Hypertension RGD PMID:26959484 RGD:329969898 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 treatment ISO RGD PMID:25593290 RGD:38500244 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G UCP2 uncoupling protein 2 ISO RGD PMID:17704287 RGD:2302404 NCBI chr11:73,974,672...73,983,202
Ensembl chr11:73,974,672...73,982,843 		JBrowse link
G UCP3 uncoupling protein 3 ISO mRNA:decreased expression:heart right ventricle RGD PMID:17704287 RGD:2302404 NCBI chr11:74,000,277...74,009,085
Ensembl chr11:74,000,277...74,009,085 		JBrowse link
G VEGFA vascular endothelial growth factor A treatment ISO associated with Pulmonary arterial hypertension RGD PMID:26959484 RGD:329969898 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
tetralogy of Fallot 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: Tetralogy of Fallot ClinVar PMID:20022194 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 More... NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
G BMP10 bone morphogenetic protein 10 ISS OMIM:187500 MouseDO NCBI chr 2:68,860,909...68,871,397
Ensembl chr 2:68,860,909...68,871,397 		JBrowse link
G BMP7 bone morphogenetic protein 7 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr20:57,168,753...57,266,641
Ensembl chr20:57,168,753...57,266,641 		JBrowse link
G CERS1 ceramide synthase 1 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:25741868 PMID:28492532 NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727 		JBrowse link
G CFC1B cryptic, EGF-CFC family member 1B IDA DNA:hypermethylation:promoter: RGD PMID:24479926 RGD:155226880 NCBI chr 2:130,521,222...130,528,603
Ensembl chr 2:130,521,197...130,528,604 		JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISS OMIM:187500 MouseDO NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 ISS OMIM:187500 MouseDO NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818 		JBrowse link
G DOCK1 dedicator of cytokinesis 1 ISS OMIM:187500 MouseDO NCBI chr10:126,905,428...127,452,516
Ensembl chr10:126,905,409...127,452,517 		JBrowse link
G EPHB4 EPH receptor B4 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G FGF8 fibroblast growth factor 8 ISS OMIM:187500 MouseDO NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FLNC filamin C IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G FOXC1 forkhead box C1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G FOXC2 forkhead box C2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728 		JBrowse link
G FOXH1 forkhead box H1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G GATA4 GATA binding protein 4 IAGP
EXP		 ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 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:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) RGD PMID:23289003 RGD:155260350 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
EXP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tetralogy of Fallot		 OMIM
CTD
ClinVar		 PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GDF1 growth differentiation factor 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tetralogy of Fallot		 CTD
ClinVar		 PMID:17924340 PMID:25741868 PMID:28492532 NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158 		JBrowse link
G GJA1 gap junction protein alpha 1 IEP RGD PMID:16010294 RGD:1582666 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP
ISS		 DNA:duplications
OMIM:187500		 MouseDO
RGD		 PMID:22199024 RGD:7207464 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 4:173,526,091...173,530,229
Ensembl chr 4:173,524,969...173,530,229 		JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISS OMIM:187500 MouseDO NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269 		JBrowse link
G HIRA histone cell cycle regulator IEP mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G INVS inversin ISS OMIM:187500 MouseDO NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175 		JBrowse link
G IRX4 iroquois homeobox 4 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 5:1,877,413...1,887,179
Ensembl chr 5:1,877,413...1,887,236 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP
EXP		 ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 More... RGD:1582344 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G KDR kinase insert domain receptor IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G LOC126860469 BRD4-independent group 4 enhancer GRCh37_chr8:106814445-106815644 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar Annotator: match by term: Fallot tetralogy		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:105,802,217...105,803,416 JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISS OMIM:187500 MouseDO NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility IAGP DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP
ISS
EXP		 DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Fallot tetralogy
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
OMIM:187500
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... RGD:1581133 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NRP1 neuropilin 1 susceptibility IAGP DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chr10:33,177,493...33,334,667
Ensembl chr10:33,177,492...33,336,262 		JBrowse link
G NTF3 neurotrophin 3 ISS OMIM:187500 MouseDO NCBI chr12:5,430,332...5,495,299
Ensembl chr12:5,432,108...5,521,536 		JBrowse link
G PHC1 polyhomeotic homolog 1 ISS OMIM:187500 MouseDO NCBI chr12:8,913,843...8,941,467
Ensembl chr12:8,913,896...8,941,467 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 susceptibility IAGP DNA:snp:intron:c.757-4333A>G (rs11066320) (human) RGD PMID:22503907 RGD:12743641 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Fallot tetralogy ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 PMID:28592524 PMID:29194579 PMID:35227688 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP
EXP		 ClinVar Annotator: match by term: Fallot tetralogy
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More... NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TBX20 T-box transcription factor 20 IDA
IEP		 DNA:hypomethylation:promoter
mRNA:increased expression:heart (human)		 RGD PMID:31138201 PMID:18275040 RGD:155882584, RGD:155882585 NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100 		JBrowse link
G TPM1 tropomyosin 1 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP
ISS
EXP
IDA		 ClinVar Annotator: match by term: Fallot tetralogy
ClinVar Annotator: match by term: Tetralogy of Fallot
OMIM:187500
CTD Direct Evidence: marker/mechanism
DNA,mRNA:hypermethylation,decreased expression:promoter,heart:		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... RGD:1580641, RGD:155882486 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
G ZFPM2-AS1 ZFPM2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar Annotator: match by term: Fallot tetralogy		 ClinVar PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:25741868 More... NCBI chr 8:105,780,410...106,060,503
Ensembl chr 8:105,546,089...106,060,524 		JBrowse link
X-linked dilated cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMD dystrophin IAGP
EXP		 ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2691353 PMID:7599638 PMID:7881286 PMID:8789442 PMID:8840119 More... NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G SNTA1 syntrophin alpha 1 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED ClinVar PMID:25741868 PMID:28492532 NCBI chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Anatomical Pathological Conditions 3156
        Hypertrophy 1223
          Cardiomegaly 932
            Biventricular Hypertrophy 0
            Ethanolaminosis 0
            Left Ventricular Hypertrophy + 151
            Right Ventricular Hypertrophy + 108
            dilated cardiomyopathy + 611
            geleophysic dysplasia + 8
            hypertrichotic osteochondrodysplasia Cantu type 2
paths to the root