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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 IDA RGD PMID:12494268 RGD:1549856 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
JBrowse link
G Ace angiotensin I converting enzyme treatment IMP RGD PMID:24342267 RGD:11039415 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Acot2 acyl-CoA thioesterase 2 IEP mRNA:decreased expression:heart (rat) RGD PMID:15292030 RGD:2315862 NCBI chr 6:103,611,738...103,619,404
Ensembl chr 6:103,611,544...103,619,245
JBrowse link
G Adcy10 adenylate cyclase 10 ameliorates ISO RGD PMID:29466442 RGD:329337358 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951
JBrowse link
G Adra1b adrenoceptor alpha 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:11278430 PMID:11940550 NCBI chr10:28,255,025...28,373,418
Ensembl chr10:28,255,025...28,312,919
JBrowse link
G Adra2a adrenoceptor alpha 2A ISO CTD Direct Evidence: therapeutic CTD PMID:20083574 NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
JBrowse link
G Adra2c adrenoceptor alpha 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:20083574 NCBI chr14:75,470,884...75,472,846
Ensembl chr14:75,471,143...75,472,846
JBrowse link
G Agt angiotensinogen treatment IDA
ISO
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 chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a IMP
ISO
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17350036 PMID:21367774 PMID:11324571 PMID:10639182 RGD:5129174, RGD:10047105, RGD:737777 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Agtr1b angiotensin II receptor, type 1b IEP RGD PMID:11324571 RGD:10047105 NCBI chr 2:102,844,969...102,920,232
Ensembl chr 2:102,844,969...102,920,232
JBrowse link
G Agtrap angiotensin II receptor-associated protein IEP RGD PMID:18725581 RGD:2314351 NCBI chr 5:158,507,427...158,519,036
Ensembl chr 5:158,508,749...158,519,036
JBrowse link
G Ahr aryl hydrocarbon receptor treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:24247421 PMID:23528973 PMID:12665660 RGD:401793732, RGD:401784499 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Akap5 A-kinase anchoring protein 5 ISO human gene, mouse model
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:11248077 PMID:11248077 RGD:2313290 NCBI chr 6:95,051,527...95,061,075
Ensembl chr 6:95,051,537...95,061,578
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:24448315 PMID:12237475 RGD:734544 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Ankrd1 ankyrin repeat domain 1 IDA RGD PMID:10904011 RGD:1578370 NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
JBrowse link
G Anxa2 annexin A2 IEP mRNA:increased expression:heart: RGD PMID:10603972 RGD:10053694 NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
JBrowse link
G Anxa5 annexin A5 IEP mRNA:increased expression:heart: RGD PMID:10603972 RGD:10053694 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6218830 NCBI chr 4:77,812,260...77,831,846
Ensembl chr 4:77,812,260...77,831,840
JBrowse link
G Apln apelin IEP
ISO
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:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391
JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator treatment IEP RGD PMID:23528973 RGD:401793732 NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
JBrowse link
G Atf3 activating transcription factor 3 ISO RGD PMID:11485922 RGD:7327201 NCBI chr13:102,751,278...102,800,520
Ensembl chr13:102,751,321...102,764,631
JBrowse link
G Atg16l1 autophagy related 16-like 1 treatment IEP RGD PMID:24998254 RGD:11561938 NCBI chr 9:88,420,737...88,457,530
Ensembl chr 9:88,422,038...88,457,529
JBrowse link
G Atg5 autophagy related 5 treatment IEP RGD PMID:24998254 RGD:11561938 NCBI chr20:47,798,217...47,889,216
Ensembl chr20:47,798,290...47,889,209
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 IDA RGD PMID:15644428 RGD:6903354 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 treatment ISO
IDA
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11679415 PMID:29792884 RGD:13782078 NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment IEP RGD PMID:25880160 RGD:13792672 NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
JBrowse link
G Avpr1a arginine vasopressin receptor 1A IMP associated with Heart Failure, Congestive RGD PMID:18467593 RGD:2300338 NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215
JBrowse link
G Bad BCL2-associated agonist of cell death treatment IDA associated with Hypertension RGD PMID:21921241 RGD:10053646 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
JBrowse link
G Bambi BMP and activin membrane-bound inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr17:54,121,251...54,125,816
Ensembl chr17:54,121,255...54,126,060
JBrowse link
G Becn1 beclin 1 treatment IEP mRNA, protein:increased expression:heart left ventricle RGD PMID:23326547 PMID:24998254 RGD:11561904, RGD:11561938 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:heart: RGD PMID:23747723 RGD:8847123 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit ISO RGD PMID:18420946 RGD:9686423 NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278
JBrowse link
G Cabin1 calcineurin binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11248077 NCBI chr20:12,893,314...13,015,357
Ensembl chr20:12,893,358...13,015,357
JBrowse link
G Camk2d calcium/calmodulin-dependent protein kinase II delta treatment IEP RGD PMID:26619200 RGD:401940196 NCBI chr 2:215,023,785...215,287,351
Ensembl chr 2:215,024,004...215,286,178
JBrowse link
G Cav1 caveolin 1 IEP
ISO
protein:increased expression:aorta
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17487232 PMID:17487232 RGD:2289120 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Cav3 caveolin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19299911 NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: therapeutic CTD PMID:15576649 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
JBrowse link
G Cd36 CD36 molecule treatment ISO associated with Obesity RGD PMID:26036798 RGD:11040928 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Cd38 CD38 molecule IMP RGD PMID:18719074 RGD:2307236 NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
JBrowse link
G Cd44 CD44 molecule IEP protein:increased expression:coronary artery RGD PMID:18196276 RGD:2289364 NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO CTD Direct Evidence: therapeutic CTD PMID:29266779 NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
JBrowse link
G Cma1 chymase 1 ISO mRNA:increased expression:heart left ventricle (mouse) RGD PMID:11828013 RGD:5128508 NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
JBrowse link
G Corin corin, serine peptidase ISO
IEP
mRNA:increased expression:heart (rat) RGD PMID:17485366 PMID:15191894 RGD:1626338, RGD:1581217 NCBI chr14:35,680,601...35,910,703
Ensembl chr14:35,681,304...35,909,503
JBrowse link
G Cox5b cytochrome c oxidase subunit 5B IEP associated with Hypertension RGD PMID:16132109 RGD:2301377 NCBI chr 9:38,921,980...38,923,806
Ensembl chr 9:38,921,967...38,925,052
JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24330405 NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404
JBrowse link
G Crem cAMP responsive element modulator ISO RGD PMID:15569686 RGD:1581291 NCBI chr17:54,238,889...54,305,989
Ensembl chr17:54,239,030...54,305,989
JBrowse link
G Cs citrate synthase IDA RGD PMID:12941647 RGD:243048478 NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421
JBrowse link
G Ctf1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18400235 PMID:19100119 NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 IEP
ISO
mRNA:increased expression:cardiac muscle tissue (rat)
mRNA:increased expression:cardiac muscle tissue (mouse)
RGD PMID:19349910 PMID:19349910 RGD:4145630, RGD:4145630 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 IMP RGD PMID:15939810 RGD:2307307 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18725507 PMID:23528973 RGD:401793732 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 treatment ISO
IEP
IDA
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 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
JBrowse link
G Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18725507 NCBI chr 1:236,762,719...236,799,069
Ensembl chr 1:236,762,842...236,799,066
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18725507 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Cyp4a3 cytochrome P450, family 4, subfamily a, polypeptide 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18725507 NCBI chr 5:129,097,571...129,115,488
Ensembl chr 5:129,097,926...129,115,463
JBrowse link
G Dll4 delta like canonical Notch ligand 4 treatment ISO RGD PMID:23188126 RGD:155663352 NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23297412 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dsc2 desmocollin 2 IEP protein:increased expression:heart (rat) RGD PMID:26708424 RGD:264347602 NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
JBrowse link
G Dsg2 desmoglein 2 IEP protein:increased expression:heart (rat) RGD PMID:26708424 RGD:264347602 NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A treatment IEP protein:decreased expression:heart (rat) RGD PMID:24524606 PMID:19906449 PMID:26619200 RGD:401959210, RGD:401959215, RGD:401940196 NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
JBrowse link
G Edn1 endothelin 1 severity IEP
ISO
protein:increased expression:heart ventricle, plasma (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:22198280 PMID:7771559 RGD:8661803 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:15652507 RGD:1580954 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:16025126 RGD:5131654 NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Ep300 E1A binding protein p300 IEP associated with Diabetes Mellitus, Experimental; mRNA:increased expression:heart left ventricle (rat) RGD PMID:23211718 RGD:7327187 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
JBrowse link
G Errfi1 ERBB receptor feedback inhibitor 1 treatment ISO
IDA
protein:increased expression:heart: RGD PMID:19204184 PMID:19204184 RGD:9685562, RGD:9685562 NCBI chr 5:161,323,981...161,337,289
Ensembl chr 5:161,323,998...161,337,282
JBrowse link
G Fads2 fatty acid desaturase 2 treatment IMP RGD PMID:24284026 RGD:401901245 NCBI chr 1:206,707,384...206,747,333
Ensembl chr 1:206,708,783...206,748,789
JBrowse link
G Fgf2 fibroblast growth factor 2 IEP
ISO
mRNA:increased expression:heart
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:10491406 PMID:18196276 RGD:2289364 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Fgf21 fibroblast growth factor 21 ISO RGD PMID:23771152 RGD:10401893 NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
JBrowse link
G Fhl2 four and a half LIM domains 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25358972 NCBI chr 9:45,388,979...45,462,421
Ensembl chr 9:45,388,981...45,431,192
JBrowse link
G Fndc5 fibronectin type III domain containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:30703374 NCBI chr 5:141,481,593...141,491,257
Ensembl chr 5:141,481,590...141,490,731
JBrowse link
G Fxyd1 FXYD domain-containing ion transport regulator 1 treatment ISO RGD PMID:24218169 RGD:9685471 NCBI chr 1:86,287,163...86,291,478
Ensembl chr 1:86,287,165...86,291,278
JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19564549 NCBI chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16259952 PMID:18252717 NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
JBrowse link
G Gdf1 growth differentiation factor 1 exacerbates ISO RGD PMID:24275554 RGD:11252017 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
JBrowse link
G Glrx3 glutaredoxin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:16809552 NCBI chr 1:192,241,707...192,272,012
Ensembl chr 1:192,241,701...192,272,010
JBrowse link
G Gnaq G protein subunit alpha q ISO RGD PMID:9811897 RGD:1598475 NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
JBrowse link
G Gpx3 glutathione peroxidase 3 treatment IEP RGD PMID:23528973 RGD:401793732 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 severity ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:heart left ventricle (mouse)
CTD
RGD
PMID:11901213 PMID:23969695 PMID:25982117 RGD:13792712, RGD:11052788 NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
JBrowse link
G Grk3 G protein-coupled receptor kinase 3 IEP mRNA:increased expression:heart left ventricle (rat) RGD PMID:20677219 RGD:5685025 NCBI chr12:43,624,778...43,735,375
Ensembl chr12:43,624,897...43,731,262
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17901358 PMID:19318234 RGD:10045585 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
JBrowse link
G Gsn gelsolin treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:30240538 PMID:30240538 RGD:329333015 NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
JBrowse link
G Gsr glutathione-disulfide reductase treatment IEP RGD PMID:23528973 RGD:401793732 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Gstm2 glutathione S-transferase mu 2 treatment IEP RGD PMID:23528973 RGD:401793732 NCBI chr 2:195,624,015...195,628,774
Ensembl chr 2:195,544,426...195,628,961
JBrowse link
G Gstm3 glutathione S-transferase mu 3 treatment IEP RGD PMID:23528973 RGD:401793732 NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
JBrowse link
G H19 H19 imprinted maternally expressed transcript 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 chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP RGD PMID:24424338 RGD:11041632 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Hand1 heart and neural crest derivatives expressed 1 IEP
ISO
mRNA:decreased expression:heart ventricle
mRNA:decreased expression:heart left ventricle
RGD PMID:12359233 PMID:12359233 RGD:727442, RGD:727442 NCBI chr10:42,006,646...42,009,213
Ensembl chr10:42,006,651...42,009,213
JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 IEP
ISO
mRNA:altered expression:cardiac ventricle
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:heart right ventricle
CTD
RGD
PMID:29394407 PMID:12359233 PMID:12359233 RGD:727442, RGD:727442 NCBI chr16:32,917,448...32,920,791
Ensembl chr16:32,917,823...32,919,891
JBrowse link
G Has1 hyaluronan synthase 1 IEP mRNA:increased expression:heart RGD PMID:18196276 RGD:2289364 NCBI chr 1:58,693,411...58,705,653
Ensembl chr 1:58,693,411...58,705,397
JBrowse link
G Has2 hyaluronan synthase 2 IEP mRNA:increased expression:heart RGD PMID:18196276 RGD:2289364 NCBI chr 7:88,113,326...88,139,337
Ensembl chr 7:88,113,326...88,128,933
JBrowse link
G Hdac2 histone deacetylase 2 ISO 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 chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Hdac8 histone deacetylase 8 treatment ISO
IEP
associated with Hypertension RGD PMID:25504627 PMID:23868068 RGD:13208811, RGD:9681716 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923
JBrowse link
G Hes1 hes family bHLH transcription factor 1 treatment ISO RGD PMID:23188126 RGD:155663352 NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
JBrowse link
G Hfe homeostatic iron regulator ISO associated with hemochromatosis RGD PMID:28720890 RGD:14746969 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15942707 PMID:12665660 RGD:401784499 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hmgb1 high mobility group box 1 treatment ISO RGD PMID:23708738 RGD:10402070 NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15226216 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hrc histidine rich calcium binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17030629 NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:95,813,253...95,816,984
JBrowse link
G Hsf1 heat shock transcription factor 1 treatment IDA RGD PMID:25804640 RGD:10402399 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO protein:increased expression:heart RGD PMID:20005206 RGD:401938624 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15302781 PMID:19023134 PMID:20374255 NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10547078 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:18801929 RGD:2311509 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18660453 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1b interleukin 1 beta IEP
ISO
mRNA, protein:increased expression:heart
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15302781 PMID:15542404 RGD:1581939 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 severity ISO RGD PMID:17492053 RGD:40813740 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
JBrowse link
G Il33 interleukin 33 treatment IDA
ISO
protein:increased expression:cardiomyocyte RGD PMID:17492053 PMID:17492053 RGD:40813740, RGD:40813740 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
JBrowse link
G Il6 interleukin 6 IEP mRNA, protein:increased expression:heart RGD PMID:15542404 RGD:1581939 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO RGD PMID:10219240 RGD:737751 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:23589561 RGD:11530060 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
JBrowse link
G Irx4 iroquois homeobox 4 ISO RGD PMID:11238910 RGD:1582289 NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549
JBrowse link
G Itga3 integrin subunit alpha 3 IEP protein:increased expression:cardiac myocyte (rat) RGD PMID:1835909 RGD:2325829 NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
JBrowse link
G Itpr2 inositol 1,4,5-trisphosphate receptor, type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20616315 NCBI chr 4:179,028,594...179,434,657
Ensembl chr 4:179,027,281...179,404,164
JBrowse link
G Kat8 lysine acetyltransferase 8 treatment ISO mRNA, protein:decreased expression:heart (mouse)
human gene in a mouse model
RGD PMID:24802406 PMID:24802406 RGD:9586036, RGD:9586036 NCBI chr 1:182,524,355...182,536,638
Ensembl chr 1:182,515,327...182,536,633
JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO protein:decreased expression:heart: RGD PMID:23747723 RGD:8847123 NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345
JBrowse link
G Kdm4a lysine demethylase 4A ISO RGD PMID:21555854 RGD:9587422 NCBI chr 5:131,672,754...131,719,534
Ensembl chr 5:131,672,754...131,719,501
JBrowse link
G Kl Klotho treatment ISO RGD PMID:23225045 RGD:10403062 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
JBrowse link
G Klf5 KLF transcription factor 5 ISO RGD PMID:15098654 RGD:1304323 NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
JBrowse link
G Klk1 kallikrein 1 ISO RGD PMID:17137568 RGD:1641797 NCBI chr 1:94,642,644...94,646,760
Ensembl chr 1:94,642,687...94,646,754
JBrowse link
G Klk1c12 kallikrein 1-related peptidase C12 ISO RGD PMID:17137568 RGD:1641797 NCBI chr 1:94,378,103...94,382,140
Ensembl chr 1:94,378,054...94,382,176
JBrowse link
G Lif LIF, interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:15226216 NCBI chr14:79,131,049...79,140,486
Ensembl chr14:79,134,574...79,140,482
JBrowse link
G Loxl1 lysyl oxidase-like 1 IEP RGD PMID:17378376 RGD:7394734 NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356
JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO mRNA:increased expression:heart (mouse) RGD PMID:29510080 RGD:213230163 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
JBrowse link
G Lyn LYN proto-oncogene, Src family tyrosine kinase IEP RGD PMID:17039281 RGD:2303711 NCBI chr 5:16,639,512...16,755,501
Ensembl chr 5:16,639,466...16,756,868
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha treatment IEP RGD PMID:24998254 RGD:11561938 NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
JBrowse link
G Map2k5 mitogen activated protein kinase kinase 5 ISO RGD PMID:11387209 RGD:1580866 NCBI chr 8:63,625,220...63,852,090
Ensembl chr 8:63,625,221...63,851,983
JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:15722372 PMID:12750397 RGD:1582275, RGD:13782145 NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293
JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 treatment
ameliorates
ISO
IEP
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 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
JBrowse link
G Mapk1 mitogen activated protein kinase 1 IDA RGD PMID:15607907 RGD:1582283 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:12668503 RGD:1582316 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Meis1 Meis homeobox 1 ISO mRNA, protein:decreased expression:heart (mouse) RGD PMID:26597775 RGD:11554891 NCBI chr14:93,155,426...93,294,373
Ensembl chr14:93,155,419...93,294,265
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase IEP protein:increased expression:ventricle (rat) RGD PMID:10489112 RGD:2317547 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mfn1 mitofusin 1 treatment ISO RGD PMID:28503736 RGD:12910714 NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
JBrowse link
G Mfn2 mitofusin 2 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism
associated with Hypertension:protein:decreased expression:heart (rat)
mRNA, protein:decreased expression:heart (mouse)
CTD
RGD
PMID:17499311 PMID:27085127 PMID:27565029 PMID:27847271 PMID:28503736 RGD:12910835, RGD:12910768, RGD:12910764, RGD:12910714 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mir125b2 microRNA 125b-2 ISO CTD Direct Evidence: therapeutic CTD PMID:29122578 NCBI chr11:16,245,620...16,245,707 JBrowse link
G Mir145 microRNA 145 treatment ISO miRNA:increased expression:blood serum (human) RGD PMID:35139769 PMID:35139769 RGD:155260312, RGD:155260312 NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
JBrowse link
G Mir208a microRNA 208a treatment IMP RGD PMID:33605072 RGD:213230164 NCBI chr15:28,425,570...28,425,652 JBrowse link
G Mir21 microRNA 21 ISO CTD Direct Evidence: marker/mechanism
RNA:increased expression:heart:
CTD
RGD
PMID:17525252 PMID:32040481 RGD:41404711 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mir223 microRNA 223 ISO RGD PMID:27226563 RGD:329322878 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996
JBrowse link
G Mir23a microRNA 23a ISO RGD PMID:22084234 RGD:155882559 NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071
JBrowse link
G Mir30a microRNA 30a IEP RNA:decreased expression:heart left ventricle RGD PMID:23326547 RGD:11561904 NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
JBrowse link
G Mir30b microRNA 30b IEP RNA:decreased expression:heart left ventricle RGD PMID:23326547 RGD:11561904 NCBI chr 7:100,132,589...100,132,675
Ensembl chr 7:100,132,589...100,132,675
JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP RGD PMID:16327176 RGD:1582627 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP mRNA:increased expression:heart left ventricle RGD PMID:17207419 RGD:1642047 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mt2A metallothionein 2A ISO CTD Direct Evidence: therapeutic CTD PMID:11309296 NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
JBrowse link
G Mtor mechanistic target of rapamycin kinase IMP associated with Aortic Valve Stenosis RGD PMID:20861467 RGD:10003169 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Mybpc3 myosin binding protein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22189562 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor treatment IDA RGD PMID:22000973 RGD:7240700 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Myh6 myosin heavy chain 6 IEP RGD PMID:1703406 RGD:12798563 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
JBrowse link
G Myh7 myosin heavy chain 7 IEP
ISO
mRNA, protein:increased expression:heart (mouse) RGD PMID:1703406 PMID:26597775 RGD:12798563, RGD:11554891 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Myocd myocardin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16556869 NCBI chr10:49,833,219...49,928,806
Ensembl chr10:49,836,641...49,927,627
JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 IEP RGD PMID:24388463 RGD:7800726 NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment IEP RGD PMID:23528973 RGD:401793732 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28973413 NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 IEP protein:increased expression:heart, plasma membrane (rat) RGD PMID:14559858 RGD:5132887 NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408
JBrowse link
G Nos1 nitric oxide synthase 1 IEP RGD PMID:17673519 RGD:1642136 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Nos3 nitric oxide synthase 3 treatment IEP
ISO
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 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Notch1 notch receptor 1 treatment ISO RGD PMID:23188126 RGD:155663352 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Nppa natriuretic peptide A treatment
ameliorates
IDA
ISO
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 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
JBrowse link
G Nppb natriuretic peptide B ameliorates
treatment
IEP
ISO
IDA
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 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO associated with Hypertension
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20881240 PMID:9405681 RGD:737701 NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505
JBrowse link
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase IEP protein:increased expression:heart left ventricle (rat) RGD PMID:22128088 RGD:9590202 NCBI chr  X:66,771,278...66,816,148
Ensembl chr  X:66,771,349...66,816,146
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase treatment ISO
IEP
associated with Hypertension RGD PMID:22406748 PMID:28503736 PMID:24388463 RGD:7800697, RGD:12910714, RGD:7800726 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO RGD PMID:22082674 RGD:11533929 NCBI chr 1:152,111,172...152,226,390
Ensembl chr 1:152,111,188...152,226,383
JBrowse link
G Parp2 poly (ADP-ribose) polymerase 2 treatment IEP RGD PMID:25281201 RGD:13514043 NCBI chr15:24,034,069...24,044,340
Ensembl chr15:24,034,106...24,044,338
JBrowse link
G Pde5a phosphodiesterase 5A treatment ISO RGD PMID:15665834 RGD:1581008 NCBI chr 2:210,858,515...211,003,480
Ensembl chr 2:210,858,063...210,999,701
JBrowse link
G Pde9a phosphodiesterase 9A treatment ISO
IMP
RGD PMID:25799991 PMID:33464954 PMID:28649129 RGD:240550109, RGD:242905185, RGD:241060360 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta IEP associated with Hypertension;protein:increased expression:heart RGD PMID:11973598 RGD:2292215 NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:12963636 NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
JBrowse link
G Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 ISO RGD PMID:23487407 RGD:8693424 NCBI chr 8:19,189,408...19,200,785
Ensembl chr 8:19,189,373...19,200,785
JBrowse link
G Plau plasminogen activator, urokinase treatment IDA RGD PMID:22160250 RGD:7241558 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Pld1 phospholipase D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15988127 NCBI chr 2:110,849,205...111,047,304
Ensembl chr 2:110,893,608...111,047,692
JBrowse link
G Pld2 phospholipase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15988127 NCBI chr10:55,256,326...55,274,192
Ensembl chr10:55,256,359...55,272,808
JBrowse link
G Plpp3 phospholipid phosphatase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28982073 NCBI chr 5:119,927,085...120,002,206
Ensembl chr 5:119,927,085...120,002,205
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1965992 PMID:2821097 PMID:6088243 PMID:8279378 PMID:8381257 More... NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
G Postn periostin severity IEP mRNA,protein:increased expression:left ventricle: RGD PMID:16414453 RGD:10040951 NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:22198280 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Ppard peroxisome proliferator-activated receptor delta IDA
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20075336 PMID:15728586 RGD:1580656 NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP
ISO
protein:increased expression:myocardium of left ventricle (rat) RGD PMID:22105890 PMID:14726475 RGD:7242192, RGD:10053662 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:12515860 PMID:21273244 RGD:734902, RGD:401940178 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 ISO CTD Direct Evidence: therapeutic CTD PMID:18812163 NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543
JBrowse link
G Prkca protein kinase C, alpha IAGP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21565836 PMID:15792354 RGD:1581271 NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
JBrowse link
G Prkcb protein kinase C, beta IDA
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17121852 PMID:12887134 RGD:1581276 NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
JBrowse link
G Prkcd protein kinase C, delta IEP
IAGP
associated with Hypertension RGD PMID:15792354 PMID:15792354 RGD:1581271, RGD:1581271 NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
JBrowse link
G Prkce protein kinase C, epsilon IAGP RGD PMID:15792354 RGD:1581271 NCBI chr 6:7,965,048...8,451,966
Ensembl chr 6:7,965,048...8,451,719
JBrowse link
G Prkcz protein kinase C, zeta ISO CTD Direct Evidence: therapeutic CTD PMID:27094369 NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
JBrowse link
G Prkd1 protein kinase D1 ameliorates ISO
IEP
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 chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042
JBrowse link
G Pten phosphatase and tensin homolog IEP
ISO
RGD PMID:16188065 PMID:11448956 RGD:2292549, RGD:1581282 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Pygm glycogen phosphorylase, muscle associated IEP mRNA:increased expression:cardiocyte RGD PMID:14618266 RGD:1599987 NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368
JBrowse link
G Rac1 Rac family small GTPase 1 ISO RGD PMID:16698001 PMID:16651530 RGD:1581293, RGD:1581294 NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO DNA:point mutation:exon:p.D486N (mouse) RGD PMID:22826437 RGD:12910709 NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
JBrowse link
G Ramp2 receptor activity modifying protein 2 IEP RGD PMID:15680493 RGD:1642686 NCBI chr10:86,187,366...86,190,692
Ensembl chr10:86,188,812...86,231,829
JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor 3 susceptibility IEP
ISO
protein:increased expression:left ventricle myocardium (rat) RGD PMID:18323524 PMID:25411381 RGD:9835356, RGD:9850089 NCBI chr 7:128,875,772...128,898,203
Ensembl chr 7:128,875,773...128,898,521
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO RGD PMID:18420946 RGD:9686423 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121852 NCBI chr 3:140,789,079...140,806,017
Ensembl chr 3:140,789,080...140,806,005
JBrowse link
G Rbm10 RNA binding motif protein 10 IEP protein:decreased expression:heart RGD PMID:30257214 RGD:151667449 NCBI chr  X:1,540,399...1,572,571
Ensembl chr  X:1,540,398...1,572,575
JBrowse link
G Rbp4 retinol binding protein 4 ameliorates ISO RGD PMID:25911613 RGD:329845871 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
JBrowse link
G Rcan1 regulator of calcineurin 1 IDA RGD PMID:12124198 RGD:625605 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit treatment IDA RGD PMID:15728586 PMID:15749748 RGD:1580656, RGD:1581122 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Ren renin ISO mRNA:increased expression:heart, kidney (mouse)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20429690 PMID:20811386 PMID:15367398 RGD:6771378 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
G Rhoa ras homolog family member A IEP
ISO
associated with Hypertension;protein:increased activation:heart
protein:increased expression:cardiac muscle cell
RGD PMID:17184496 PMID:17316608 RGD:1642810, RGD:1642807 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 6:39,679,116...39,774,033
Ensembl chr 6:39,679,082...39,774,031
JBrowse link
G Rpph1 ribonuclease P RNA component H1 ISO RNA:increased expression:heart left ventricle (mouse) RGD PMID:27317124 RGD:243048444 NCBI chr15:24,033,679...24,033,935
Ensembl chr15:24,033,662...24,033,959
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased threonine phosphorylation:heart left ventricle RGD PMID:16540832 RGD:1642998 NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
JBrowse link
G Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18056528 PMID:18056528 RGD:2311701 NCBI chr19:354,184...357,424
Ensembl chr19:354,198...357,417
JBrowse link
G S100a1 S100 calcium binding protein A1 IDA RGD PMID:12619862 RGD:735233 NCBI chr 2:175,993,922...175,998,765
Ensembl chr 2:175,993,922...175,999,544
JBrowse link
G S1pr1 sphingosine-1-phosphate receptor 1 IDA RGD PMID:11549339 RGD:1357201 NCBI chr 2:203,624,752...203,629,110
Ensembl chr 2:203,621,587...203,629,681
JBrowse link
G Shc1 SHC adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19168439 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
JBrowse link
G Sirt1 sirtuin 1 treatment IEP RGD PMID:25281201 RGD:13514043 NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G Sirt4 sirtuin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27099261 NCBI chr12:41,125,533...41,139,440
Ensembl chr12:41,131,262...41,139,439
JBrowse link
G Sirt6 sirtuin 6 IEP
ISO
CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:22335191 PMID:35798905 PMID:22335191 RGD:9586060 NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914
JBrowse link
G Slc25a4 solute carrier family 25 member 4 treatment IMP associated with Hypertension RGD PMID:17210842 RGD:9681469 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22221582 NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO associated with Anemia, Hemolytic RGD PMID:17056673 RGD:10450496 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Slc8a1 solute carrier family 8 member A1 ISO
IDA
protein:increased serine phosphorylation:heart
associated with Hypertension;protein:decreased activity:heart left ventricle, cardiac muscle cell
RGD PMID:17446477 PMID:15615841 RGD:1642725, RGD:1642713 NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19293248 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Sox4 SRY-box transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15534078 RGD:1581339 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18194989 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 ISO mRNA:increased expression:heart left ventricle (human) RGD PMID:12374776 RGD:4891966 NCBI chr 1:33,686,069...33,720,468
Ensembl chr 1:33,686,391...33,720,461
JBrowse link
G Srf serum response factor ISO RGD PMID:12909581 RGD:1581425 NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
JBrowse link
G Sri sorcin ISO RGD PMID:11485922 RGD:7327201 NCBI chr 4:25,973,493...25,997,879
Ensembl chr 4:25,966,750...25,998,077
JBrowse link
G Srsf1 serine and arginine rich splicing factor 1 treatment IEP RGD PMID:26619200 RGD:401940196 NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
JBrowse link
G Star steroidogenic acute regulatory protein IEP mRNA:increased expression:cardiac muscle tissue (rat) RGD PMID:19349910 RGD:4145630 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10618415 PMID:19299911 PMID:24448315 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Stk11 serine/threonine kinase 11 ISO protein:decreased expression:heart RGD PMID:17098823 RGD:1601391 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
G Stox1 storkhead box 1 ISO associated with Pre-Eclampsia; human gene fetally expressed in a mouse model RGD PMID:26758611 RGD:11553897 NCBI chr20:30,598,284...30,666,371
Ensembl chr20:30,598,168...30,666,939
JBrowse link
G Tbx20 T-box transcription factor 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175
JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP mRNA, protein:increased expression:heart RGD PMID:15542404 RGD:1581939 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 IEP RGD PMID:10067796 RGD:2290471 NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15302781 PMID:17337591 PMID:18034274 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:17556660 NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
JBrowse link
G Tomm70 translocase of outer mitochondrial membrane 70 IEP
ISO
protein:decreased expression:left ventricle myocardium
protein:decreased expression:heart
RGD PMID:25022898 PMID:25022898 RGD:13464131, RGD:13464131 NCBI chr11:43,378,719...43,417,166
Ensembl chr11:43,377,216...43,417,202
JBrowse link
G Trim44 tripartite motif-containing 44 ameliorates ISO
IMP
IEP
mRNA:increased expression:heart
mRNA,protein:increased expression:heart
RGD PMID:35855640 PMID:35855640 PMID:35855640 RGD:329961579, RGD:329961579, RGD:329961579 NCBI chr 3:88,593,619...88,729,085
Ensembl chr 3:88,592,719...88,729,188
JBrowse link
G Trim63 tripartite motif containing 63 ISO CTD Direct Evidence: therapeutic CTD PMID:19168726 NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322
JBrowse link
G Trpc1 transient receptor potential cation channel, subfamily C, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17174323 NCBI chr 8:96,263,322...96,314,220
Ensembl chr 8:96,263,329...96,314,276
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO mRNA:increased expression:heart RGD PMID:23212367 RGD:7247443 NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 IEP mRNA:increased expression:heart RGD PMID:16966582 RGD:10003036 NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
JBrowse link
G Ubtf upstream binding transcription factor ISO RGD PMID:12885411 RGD:1580791 NCBI chr10:87,258,217...87,274,291
Ensembl chr10:87,258,217...87,272,969
JBrowse link
G Ucp2 uncoupling protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:25703824 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase treatment IEP RGD PMID:23528973 RGD:401793732 NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:12665660 RGD:401784499 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vldlr very low density lipoprotein receptor IEP associated with Hypertension; mRNA:decreased expression:heart ventricle RGD PMID:8603509 RGD:1625579 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
JBrowse link
G Yy1 YY1 transcription factor IDA RGD PMID:15567155 RGD:1580832 NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747
JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V
OMIM
CTD
ClinVar
PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 More... NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 2:116,884,167...116,937,590
Ensembl chr 2:116,884,248...116,937,590
JBrowse link
Cardiac Conduction Disease with or without Dilated Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO DNA:missense mutations:cds:multiple (human) RGD PMID:10580070 RGD:11066902 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Lrrc53 leucine rich repeat containing 53 ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:30010057 PMID:34203974 NCBI chr 2:243,781,445...243,807,037
Ensembl chr 2:243,769,297...243,803,164
JBrowse link
G Tnni3k TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:24925317 PMID:25741868 PMID:25791106 PMID:28492532 PMID:29355681 More... NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp6 bone morphogenetic protein 6 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
JBrowse link
G Dsp desmoplakin ISO
ISS
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
OMIM:605676
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:8769422 PMID:9229116 PMID:9536098 PMID:9887343 PMID:10594734 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Snrnp48 small nuclear ribonucleoprotein U11/U12 subunit 48 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr17:26,596,266...26,616,058
Ensembl chr17:26,596,275...26,616,040
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 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:16253912 PMID:22581653 PMID:25351510 PMID:25741868 PMID:26771585 More... NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837
JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:23040497 PMID:23388215 PMID:24563457 PMID:24816216 PMID:25557436 More... NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227
JBrowse link
G Casq2 calsequestrin 2 ISO 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: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
CTD
ClinVar
PMID:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 More... NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
JBrowse link
G Dmpk DM1 protein kinase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr 1:78,730,255...78,740,585
Ensembl chr 1:78,730,275...78,740,593
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 PMID:33552729 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:15843404 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Mab21l3 mab-21 like 3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 2:189,248,895...189,271,652
Ensembl chr 2:189,248,895...189,271,652
JBrowse link
G Mt1m metallothionein 1M ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr20:3,159,037...3,159,409
Ensembl chr 5:119,728,811...119,730,073
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28600387 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Nhlh2 nescient helix loop helix 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 2:189,444,287...189,449,625
Ensembl chr 2:189,442,711...189,449,625
JBrowse link
G Ryr2 ryanodine receptor 2 ISO
ISS
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
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 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
OMIM:604772
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2 | 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: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
OMIM
ClinVar
MouseDO
CTD
PMID:1992601 PMID:8589694 PMID:9536098 PMID:11078270 PMID:11157710 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:15840476 PMID:19841300 PMID:20129283 PMID:22581653 PMID:23805106 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Slc22a15 solute carrier family 22, member 15 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 2:189,298,836...189,359,902
Ensembl chr 2:189,298,832...189,358,792
JBrowse link
G Tnni3k TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 ClinVar PMID:25741868 NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
JBrowse link
G Trdn triadin ISO CTD Direct Evidence: marker/mechanism
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:16199547 PMID:17576681 PMID:21520333 PMID:22422768 More... NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619
JBrowse link
Congenital Heart Defects, Multiple Types, 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 OMIM
ClinVar
PMID:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 More... NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
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 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar
RGD
PMID:12166651 PMID:20474083 PMID:24033266 PMID:25741868 PMID:27532257 More... RGD:1300328 NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
JBrowse link
G Abcc9_v1 ATP binding cassette subfamily C member 9, variant 1 susceptibility ISO RGD PMID:15034580 RGD:1300328
G Abra actin-binding Rho activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chr 7:72,970,187...72,974,255
Ensembl chr 7:72,970,186...72,974,255
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:21932095 PMID:25087612 PMID:25741868 PMID:26385305 PMID:27209629 More... NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
JBrowse link
G Ace angiotensin I converting enzyme no_association ISO DNA:insertion/deletion:intron RGD PMID:9270088 RGD:1566491 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:30354303 PMID:32746448 NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742
JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 susceptibility ISO DNA:point mutations: :p.Arg312His, p.Glu361Gly (human)
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | 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: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 More... RGD:1559158 NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:14567970 PMID:17097056 PMID:20022194 PMID:23299917 PMID:23861362 More... NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
JBrowse link
G Adrb1 adrenoceptor beta 1 IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9554809 PMID:18287209 RGD:5129132 NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259
JBrowse link
G Adrb2 adrenoceptor beta 2 IDA
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11986409 PMID:18287209 RGD:5129132 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
G Aff4 ALF transcription elongation factor 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr10:37,498,825...37,579,751
Ensembl chr10:37,498,825...37,579,751
JBrowse link
G Agt angiotensinogen no_association
treatment
ISO
IEP
DNA:polymorphisms: :p.T174M, p.M235T (human) RGD PMID:9270088 PMID:22120037 RGD:1566491, RGD:8549486 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a treatment IMP
IEP
RGD PMID:20886512 PMID:22120037 RGD:5129198, RGD:8549486 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO
IEP
mRNA, protein:increased expression:heart left ventricle RGD PMID:9815151 PMID:22120037 RGD:6903900, RGD:8549486 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:31418098 NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447358 NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23861362 PMID:25351510 PMID:25741868 PMID:28341588 PMID:28492532 More... NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO DNA:missense mutations:multiple (human)
ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: 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
RGD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18273862 PMID:19525294 More... RGD:5133277 NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
JBrowse link
G Ankrd37 ankyrin repeat domain 37 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,268,933...46,271,971
Ensembl chr16:46,268,443...46,271,963
JBrowse link
G Apoe apolipoprotein E susceptibility ISO RGD PMID:16714771 RGD:1601240 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805
JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24358288 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Axin2 axin 2 ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:decreased expression:lung
CTD
RGD
PMID:29394407 PMID:33092439 RGD:151356921 NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar 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:2159883 PMID:21353195 PMID:21459883 PMID:21898660 PMID:22337857 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:23980359 PMID:26004897 RGD:10054117, RGD:13782348 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP RGD PMID:26004897 RGD:13782348 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743
JBrowse link
G Bcl2l1 Bcl2-like 1 IEP RGD PMID:26004897 RGD:13782348 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G C9h2orf49 similar to human chromosome 2 open reading frame 49 ISO 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:17576681 PMID:24033266 PMID:25358972 More... NCBI chr 9:45,371,396...45,382,123
Ensembl chr 9:45,371,430...45,382,120
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23677916 PMID:24033266 PMID:25184293 PMID:25741868 PMID:28492532 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 susceptibility ISO DNA:SNPs:introns: RGD PMID:29495422 RGD:13515053 NCBI chr 3:36,906,771...37,169,165
Ensembl chr 3:36,910,427...37,168,944
JBrowse link
G Cacng8 calcium voltage-gated channel auxiliary subunit gamma 8 ISO mRNA,protein:decreased expression:left ventricule: RGD PMID:26710323 RGD:11353143 NCBI chr 1:65,755,334...65,775,567
Ensembl chr 1:65,755,334...65,779,089
JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29988065 NCBI chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015
JBrowse link
G Cap2 cyclase associated actin cytoskeleton regulatory protein 2 ISS MouseDO NCBI chr17:18,054,234...18,203,453
Ensembl chr17:18,054,431...18,203,373
JBrowse link
G Casp3 caspase 3 IEP RGD PMID:26004897 RGD:13782348 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp8 caspase 8 IEP RGD PMID:26004897 RGD:13782348 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Casp9 caspase 9 IEP RGD PMID:26004897 RGD:13782348 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:20530761 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
JBrowse link
G Casz1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 5:159,243,965...159,393,935
Ensembl chr 5:159,243,995...159,393,400
JBrowse link
G Cat catalase ISO RGD PMID:10652196 RGD:1581150 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Ccdc110 coiled-coil domain containing 110 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,315,745...46,337,050
Ensembl chr16:46,315,745...46,337,021
JBrowse link
G Cd27 CD27 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
JBrowse link
G Cd36 CD36 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:10981864 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:9495297 RGD:13702889 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd70 Cd70 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 9:2,006,563...2,009,715
Ensembl chr 9:2,006,563...2,009,715
JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
JBrowse link
G Cdk8 cyclin-dependent kinase 8 susceptibility ISO DNA:SNPs, haplotype:intron: (rs17083838, rs7992670) (human) RGD PMID:34815954 RGD:155260314 NCBI chr12:8,737,198...8,805,026
Ensembl chr12:8,737,262...8,804,177
JBrowse link
G Cenpf centromere protein F ISS MouseDO NCBI chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669
JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:12610310 PMID:12639993 PMID:16235537 PMID:16897780 PMID:17655857 More... NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
JBrowse link
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
JBrowse link
G Cfap97 cilia and flagella associated protein 97 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,086,104...46,135,194
Ensembl chr16:46,086,111...46,125,933
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:23408450 PMID:24033266 PMID:28166811 PMID:28492532 NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
JBrowse link
G Cox7a1 cytochrome c oxidase subunit 7A1 ISS MouseDO NCBI chr 1:85,422,162...85,447,530
Ensembl chr 1:85,441,871...85,445,151
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO RGD PMID:9616213 RGD:734815 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:19597569 PMID:26402864 PMID:28492532 NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
JBrowse link
G Cs citrate synthase ISO RGD PMID:8252591 PMID:10354207 RGD:243048472, RGD:243048483 NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17334414 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Csrnp1 cysteine and serine rich nuclear protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chr 8:119,704,712...119,717,767
Ensembl chr 8:119,704,713...119,718,183
JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO DNA:missense mutation:cds:p.W4R (human)
ClinVar Annotator: match by term: 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:734837 NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653
JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: 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: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar
RGD
PMID:11058912 PMID:24033266 PMID:25741868 PMID:26084686 PMID:27149842 More... RGD:1626410 NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
JBrowse link
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:29394407 PMID:20376467 RGD:13524857 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Ctsl cathepsin L ISS MouseDO NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP mRNA:increased expression:left ventricle myocardium RGD PMID:20868517 RGD:5134996 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 IDA RGD PMID:15322218 RGD:1598502 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
JBrowse link
G Dag1 dystroglycan 1 ISS MouseDO NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: 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
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 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dgkd diacylglycerol kinase, delta ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 9:88,516,686...88,607,349
Ensembl chr 9:88,516,715...88,607,345
JBrowse link
G Dicer1 dicer 1 ribonuclease III ISS MouseDO NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
JBrowse link
G Dmd dystrophin severity ISO
IMP
ClinVar Annotator: match by term: 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: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:myocardium
ClinVar
CTD
RGD
PMID:11496434 PMID:12359139 PMID:19409785 PMID:19937601 PMID:21396098 More... RGD:1580858, RGD:13702900, RGD:12880034, RGD:6771365 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang IMP RGD PMID:25310701 RGD:12880034
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: 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 PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518
JBrowse link
G Dnm1l dynamin 1-like ISS MouseDO NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
JBrowse link
G Dolk dolichol kinase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 3:13,557,826...13,559,864
Ensembl chr 3:13,557,817...13,559,917
JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532
JBrowse link
G Dsc2 desmocollin 2 ISO
IEP
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
protein:increased expression:heart (rat)
ClinVar
RGD
PMID:20400443 PMID:23514727 PMID:23911551 PMID:24033266 PMID:25741868 More... RGD:264347602 NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
JBrowse link
G Dsg2 desmoglein 2 ISO
IEP
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
DNA:polymorphism:cds:c.209G > A (p.V55M)(human)
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
protein:increased expression:heart (rat)
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
RGD
PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19569224 More... RGD:401851067, RGD:11064672, RGD:264347602 NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: 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: Cardiomyopathy, Familial Idiopathic | 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: Cardiomyopathy, Familial Idiopathic | 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 Annotator: match by term: Primary dilated cardiomyopathy
ClinVar
RGD
PMID:9536098 PMID:10594734 PMID:11063735 PMID:16061754 PMID:16467215 More... RGD:1580891 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:14,687,193...14,944,232
Ensembl chr18:14,587,852...14,944,261
JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A severity IMP rat cDNA in mouse model RGD PMID:27056896 RGD:401959209 NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:11468312 PMID:17070050 PMID:20623375 PMID:22194990 PMID:22910291 More... NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO RGD PMID:11145756 RGD:1580911 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
JBrowse link
G Edn1 endothelin 1 severity ISO protein:increased expression:aorta, plasma (human) RGD PMID:10026353 RGD:8661756 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Egfr epidermal growth factor receptor IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18599591 PMID:22646904 RGD:7204501 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Egln1 egl-9 family hypoxia-inducible factor 1 ISO RGD PMID:18096761 RGD:11251770 NCBI chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777
JBrowse link
G Elac2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:27769300 PMID:28492532 PMID:31045291 NCBI chr10:49,632,308...49,655,614
Ensembl chr10:49,632,378...49,655,614
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
DNA:deletion:cds:c.26_39delATACCGAGCTGACC(human)
ClinVar
RGD
PMID:24997722 RGD:13592595 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO
ISS
MouseDO
RGD
PMID:12072561 RGD:734939 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
JBrowse link
G Esrrb estrogen-related receptor beta ISS MouseDO NCBI chr 6:106,007,701...106,163,136
Ensembl chr 6:106,008,095...106,160,791
JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO DNA:deletion:introns, exon (human)
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar
RGD
PMID:10769282 PMID:15735644 PMID:17567890 PMID:24033266 PMID:15735644 RGD:1598455 NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976
JBrowse link
G Fads2 fatty acid desaturase 2 treatment ISO RGD PMID:24284026 RGD:401901245 NCBI chr 1:206,707,384...206,747,333
Ensembl chr 1:206,708,783...206,748,789
JBrowse link
G Fas Fas cell surface death receptor IEP
ISO
protein:increased expression:cardiocyte
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17943461 PMID:16761189 RGD:1600334 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:17943461 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
JBrowse link
G Fhl2 four and a half LIM domains 2 ISO 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 PMID:9536098 PMID:16199547 PMID:17416352 PMID:17576681 PMID:24033266 More... NCBI chr 9:45,388,979...45,462,421
Ensembl chr 9:45,388,981...45,431,192
JBrowse link
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088304 PMID:25741868 NCBI chr18:15,993,079...16,425,796
Ensembl chr18:15,993,324...16,425,796
JBrowse link
G Fkrp fukutin related protein ISO DNA:missense mutation:exon:p.L276I (826C>A) (human)
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar
RGD
PMID:11741828 PMID:16344347 PMID:17994539 PMID:18832576 PMID:22451200 More... RGD:11667064 NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive ClinVar PMID:17597323 PMID:25741868 PMID:26633542 PMID:28492532 NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:10862770 PMID:20661277 PMID:25741868 PMID:32870709 PMID:37561591 NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970
JBrowse link
G Flnc filamin C ISO 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: 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: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: 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: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
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: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Cardiomyopathy, fatal infantile | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:9536098 PMID:15929027 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836
JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:18076106 PMID:20874241 PMID:24033266 PMID:25741868 PMID:27374936 More... NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
JBrowse link
G Gata5 GATA binding protein 5 ISO DNA:mutation:cds;c.719G>A(p.Gly240Asp)(human) RGD PMID:25543888 RGD:155260333 NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO mRNA:decreased expression:endocardium RGD PMID:15698596 RGD:329970287 NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
JBrowse link
G Gdf1 growth differentiation factor 1 ISO mRNA,protein:increased expression:heart (human) RGD PMID:24275554 RGD:11252017 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO
IEP
protein:decreased expression:heart (rat) RGD PMID:12619876 PMID:26708424 RGD:1582667, RGD:264347602 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy ClinVar PMID:23993195 PMID:25533962 PMID:25741868 PMID:25966631 PMID:26060304 More... NCBI chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493
JBrowse link
G Gnaq G protein subunit alpha q ISO RGD PMID:9811897 RGD:1598475 NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
JBrowse link
G Gpd1l1 glycerol-3-phosphate dehydrogenase 1 like 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723
JBrowse link
G Gpx1 glutathione peroxidase 1 susceptibility ISO DNA:polymorphism: :p.P198L (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18940188 PMID:18940188 RGD:2306616 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28701297 NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
JBrowse link
G H19 H19 imprinted maternally expressed transcript ameliorates IMP RGD PMID:28430627 RGD:156430329 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28341588 PMID:28492532 NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
JBrowse link
G Hdac6 histone deacetylase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764897 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441
JBrowse link
G Hfe homeostatic iron regulator susceptibility ISO RGD PMID:11040018 RGD:1582687 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:20308327 PMID:24033266 PMID:25741868 PMID:27545675 PMID:29938792 More... NCBI chr  X:97,780,890...97,786,846
Ensembl chr  X:97,780,785...97,787,041
JBrowse link
G Hopx HOP homeobox ISO mRNA:decreased expression:left ventricle RGD PMID:12920479 RGD:401793745 NCBI chr14:31,055,912...31,082,909
Ensembl chr14:31,075,148...31,082,909
JBrowse link
G Hp haptoglobin ISO protein:increased expression RGD PMID:16360363 RGD:1626345 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:11934830 RGD:1598419 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Il10 interleukin 10 IEP mRNA:decreased expression:heart left ventricle RGD PMID:19242323 RGD:2311057 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO protein:increased expression:myocardium RGD PMID:18362439 RGD:2298568 NCBI chr  X:111,002,590...111,074,053
Ensembl chr  X:111,002,592...111,072,381
JBrowse link
G Ilk integrin-linked kinase ISO
ISS
ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar
MouseDO
NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140
JBrowse link
G Irf4 interferon regulatory factor 4 ISO protein:decreased expression:heart RGD PMID:23589561 RGD:11530060 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
JBrowse link
G Irx5 iroquois homeobox 5 ISO mRNA:increased expression:heart left ventricle (human) RGD PMID:16753336 RGD:329950575 NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
JBrowse link
G Isl1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.631A>T(human) RGD PMID:30536204 RGD:243049244 NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584
JBrowse link
G Itgb1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11884376 NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195
JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO RGD PMID:12496958 RGD:1582491 NCBI chr  X:66,572,537...66,577,174
Ensembl chr  X:66,572,537...66,577,174
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 no_association ISO RGD PMID:8567977 RGD:1556475 NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: 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 chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:20031617 PMID:20857253 PMID:21859740 PMID:23861362 PMID:24033266 More... NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:25741868 PMID:28492532 PMID:30461122 PMID:35027292 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:15176425 PMID:16244680 PMID:22402334 PMID:22581653 PMID:25741868 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO RGD PMID:15864294 RGD:1581757 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28416588 PMID:28492532 More... NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:21415759 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522
JBrowse link
G Lck LCK proto-oncogene, Src family tyrosine kinase ISO RGD PMID:17711737 RGD:2316557 NCBI chr 5:141,888,318...141,916,945
Ensembl chr 5:141,888,326...141,903,794
JBrowse link
G Ldb3 LIM domain binding 3 no_association ISO DNA:missense mutation:exon:p.S196L (human)
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
DNA:missense mutation: :p.D626N (human)
DNA:missense mutation: :p.D117N (human)
ClinVar
RGD
PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:19377068 More... RGD:11098950, RGD:1580827, RGD:11527732 NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO RGD PMID:16738313 RGD:11252001 NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794
JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphism: :p.Q223R (human) RGD PMID:19337797 RGD:2311129 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Lmna lamin A/C severity ISO associated with Muscular Dystrophy, Emery-Dreifuss;DNA:missense mutation:cds:p.H222P (mouse)
ClinVar Annotator: match by term: 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: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, 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: Idiopathic dilated cardiomyopathy | 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: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
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:1839274 PMID:2007407 PMID:2280636 PMID:2338570 PMID:2526018 More... RGD:2306094, RGD:11073137, RGD:1580515, RGD:2306092, RGD:2306091 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Lmod2 leiomodin 2 ISS MouseDO NCBI chr 4:53,067,428...53,075,124
Ensembl chr 4:53,067,428...53,075,120
JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 PMID:32041611 PMID:33303402 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
JBrowse link
G Lrp2bp Lrp2 binding protein ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr16:46,241,554...46,269,221
Ensembl chr16:46,243,430...46,269,642
JBrowse link
G Lrrc10 leucine-rich repeat-containing 10 ISS
ISO
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: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
MouseDO
ClinVar
PMID:28166811 PMID:28492532 NCBI chr 7:52,686,972...52,688,369
Ensembl chr 7:52,686,972...52,688,369
JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 treatment IMP RGD PMID:31512380 RGD:156431214 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
JBrowse link
G Map2k5 mitogen activated protein kinase kinase 5 ISO RGD PMID:11387209 RGD:1580866 NCBI chr 8:63,625,220...63,852,090
Ensembl chr 8:63,625,221...63,851,983
JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO protein:increased phosphorylation:heart (human) RGD PMID:27249171 RGD:155646134 NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
JBrowse link
G Mas1 MAS1 proto-oncogene, G protein-coupled receptor treatment IEP RGD PMID:22120037 RGD:8549486 NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
JBrowse link
G Mdm4 MDM4 regulator of p53 ISS MouseDO NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226
JBrowse link
G Med1 mediator complex subunit 1 ISO
ISS
MouseDO
RGD
PMID:27548259 RGD:13513972 NCBI chr10:83,145,538...83,189,260
Ensembl chr10:83,145,568...83,189,299
JBrowse link
G Mef2a myocyte enhancer factor 2a ISO RGD PMID:16469744 RGD:1580546 NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948
JBrowse link
G Mef2c myocyte enhancer factor 2C ISO RGD PMID:16469744 RGD:1580546 NCBI chr 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880
JBrowse link
G Mfn1 mitofusin 1 ISO with Mfn2 knockout RGD PMID:22052916 RGD:11251967 NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
JBrowse link
G Mfn2 mitofusin 2 ISO with Mfn1 knockout RGD PMID:22052916 RGD:11251967 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mir675 microRNA 675 ameliorates IEP RGD PMID:28430627 RGD:156430329 NCBI chr 1:197,732,275...197,732,358
Ensembl chr 1:197,732,275...197,732,358
JBrowse link
G Mmp1 matrix metallopeptidase 1 severity ISO mRNA:increased expression:myocardium (human) RGD PMID:17178334 PMID:12167381 RGD:4890382, RGD:1582541 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO RGD PMID:16037568 RGD:1582576 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO RGD PMID:16037568 RGD:1582576 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:16037568 RGD:1582576 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mrgprd MAS related GPR family member D ISS MouseDO NCBI chr 1:200,479,204...200,487,902
Ensembl chr 1:200,485,189...200,486,148
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
G Mtif3 mitochondrial translational initiation factor 3 ISS MouseDO NCBI chr12:8,126,193...8,140,706
Ensembl chr12:8,126,276...8,140,470
JBrowse link
G Mtpn myotrophin ISO RGD PMID:8508536 RGD:1581048 NCBI chr 4:64,159,273...64,186,686
Ensembl chr 4:64,157,641...64,186,724
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | 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: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:7493025 PMID:8533079 PMID:9048664 PMID:9562578 PMID:11499718 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Myh6 myosin heavy chain 6 ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: 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
CTD
MouseDO
ClinVar
PMID:15998695 PMID:20215591 PMID:20656787 PMID:21483645 PMID:22011241 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
JBrowse link
G Myh7 myosin heavy chain 7 onset ISO DNA:missense mutations:exon:p.S532P, p.F764L (human)
ClinVar Annotator: match by term: 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: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: 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: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: 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: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1552912 PMID:1739523 PMID:1975599 PMID:2136805 PMID:2753225 More... RGD:1556469 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:18533079 PMID:20173211 PMID:21310275 PMID:22958901 PMID:23299917 More... NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983
JBrowse link
G Myocd myocardin ISS
ISO
mRNA:increased expression:heart
mRNA:increased expression:left ventricle
MouseDO
RGD
PMID:12920479 PMID:12920479 RGD:401793745, RGD:401793745 NCBI chr10:49,833,219...49,928,806
Ensembl chr10:49,836,641...49,927,627
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24033266 PMID:28492532 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:18006477 PMID:20801532 PMID:22286171 PMID:23299917 PMID:23861362 More... NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
JBrowse link
G Myzap myocardial zonula adherens protein ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 8:72,155,817...72,243,036
Ensembl chr 8:72,131,530...72,243,036
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:10545952 PMID:15210538 PMID:19879173 PMID:20159436 PMID:25741868 More... NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
JBrowse link
G Ncoa6 nuclear receptor coactivator 6 ISS MouseDO NCBI chr 3:143,890,896...143,961,916
Ensembl chr 3:143,890,896...143,952,268
JBrowse link
G Nebl nebulette susceptibility ISO DNA:missense mutation:cds:p.N654K (human)
ClinVar Annotator: match by term: 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: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar
RGD
PMID:9536098 PMID:11140941 PMID:16199547 PMID:17576681 PMID:20951326 More... RGD:1581084 NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210
JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28701297 NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:19881492 PMID:20970104 PMID:23299917 PMID:24033266 PMID:24503780 More... NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342
JBrowse link
G Nfatc4 nuclear factor of activated T-cells 4 ISO DNA:missense mutation:cds:p.G160A (human) RGD PMID:12939651 RGD:1580248 NCBI chr15:29,286,998...29,314,610
Ensembl chr15:29,305,535...29,314,610
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
CTD
ClinVar
PMID:10587520 PMID:25741868 PMID:28492532 PMID:28973413 NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
JBrowse link
G Nos2 nitric oxide synthase 2 ISO mRNA:increased expression:endocardium RGD PMID:15698596 RGD:329970287 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:heart (human)
CTD
RGD
PMID:11986409 PMID:16762803 PMID:24275554 RGD:11252017 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
JBrowse link
G Nppb natriuretic peptide B ameliorates ISO 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 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21321305 NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885
JBrowse link
G Nrap nebulin-related anchoring protein ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 1:255,350,113...255,427,704
Ensembl chr 1:255,350,113...255,427,693
JBrowse link
G Ntrk3 neurotrophic receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Neonatal cardiomyopathy ClinVar PMID:25741868 NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286
JBrowse link
G Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO RGD PMID:15345656 RGD:1580779 NCBI chr10:43,774,113...43,919,718
Ensembl chr10:43,789,293...43,919,723
JBrowse link
G Pdcd1 programmed cell death 1 ISO
ISS
MouseDO
RGD
PMID:14595408 RGD:9589058 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Pde9a phosphodiesterase 9A ISO protein:increased expression:heart RGD PMID:25799991 RGD:240550109 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:9536098 PMID:16199547 PMID:17254821 PMID:17576681 PMID:20801532 More... NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657
JBrowse link
G Pdlim5 PDZ and LIM domain 5 ISS MouseDO NCBI chr 2:230,952,251...231,120,329
Ensembl chr 2:230,952,248...231,120,275
JBrowse link
G Pgf placental growth factor ISO RGD PMID:21900081 RGD:6483574 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:2163603 PMID:20400443 PMID:21378009 PMID:21636032 PMID:23396983 More... NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
JBrowse link
G Plekhm2 pleckstrin homology and RUN domain containing M2 ISO 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: 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: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 5:153,939,582...153,978,625
Ensembl chr 5:153,940,262...153,978,689
JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:12610310 PMID:12639993 PMID:16235537 PMID:16897780 PMID:17655857 More... NCBI chr20:32,629,537...32,639,559 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment IDA RGD PMID:19242323 RGD:2311057 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Ppp1ca protein phosphatase 1 catalytic subunit alpha ISO RGD PMID:12024026 RGD:737728 NCBI chr 1:201,485,117...201,488,734
Ensembl chr 1:201,485,085...201,497,327
JBrowse link
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28069640 PMID:32666529 NCBI chr 1:79,010,997...79,030,714
Ensembl chr 1:79,011,745...79,030,712
JBrowse link
G Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha ISO
ISS
MouseDO
RGD
PMID:15012912 RGD:1580709 NCBI chr14:91,556,743...91,606,391
Ensembl chr14:91,604,121...91,606,907
JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23768516 PMID:25741868 PMID:28492532 NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142
JBrowse link
G Prkca protein kinase C, alpha ISO RGD PMID:9918525 RGD:1581274 NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
JBrowse link
G Prkcb protein kinase C, beta ISO RGD PMID:9918525 RGD:1581274 NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
JBrowse link
G Prox1 prospero homeobox 1 ISS MouseDO NCBI chr13:101,669,184...101,719,804
Ensembl chr13:101,669,184...101,711,183
JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
CTD
ClinVar
PMID:11389157 PMID:17186461 PMID:25741868 PMID:28492532 NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
JBrowse link
G Psen2 presenilin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 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 chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISS MouseDO NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO
ISS
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar
MouseDO
RGD
PMID:18759865 PMID:21934682 PMID:22923420 PMID:24033266 PMID:24803665 More... RGD:12743610 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Rac1 Rac family small GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16155095 NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary dilated cardiomyopathy
CTD
ClinVar
PMID:24777450 PMID:25741868 PMID:28492532 PMID:29493581 NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
JBrowse link
G Ranbp1 RAN binding protein 1 ISO protein:decreased expression:heart ventricle, cytoplasm (human) RGD PMID:25341891 RGD:9835001 NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
JBrowse link
G Rbfox1 RNA binding fox-1 homolog 1 ISO mRNA:decreased expression:heart (human) RGD PMID:28949795 RGD:329849000 NCBI chr10:8,152,198...10,248,120
Ensembl chr10:8,152,198...9,686,659
JBrowse link
G Rbfox2 RNA binding fox-1 homolog 2 ISO RGD PMID:25753418 RGD:329845877 NCBI chr 7:108,810,627...109,054,420
Ensembl chr 7:108,810,628...109,054,691
JBrowse link
G Rbm20 RNA binding motif protein 20 severity ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
DNA:missense mutations:exon 9:multiple (human)
ClinVar
RGD
PMID:18585512 PMID:19712804 PMID:20590677 PMID:21483645 PMID:22004663 More... RGD:11067476 NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060
JBrowse link
G Rbm24 RNA binding motif protein 24 ISS MouseDO NCBI chr17:18,275,681...18,288,231
Ensembl chr17:18,275,688...18,288,102
JBrowse link
G Rbp4 retinol binding protein 4 onset ISO protein:increased expression:blood plasma (human) RGD PMID:19926600 RGD:329845592 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO RGD PMID:10600520 RGD:1581297 NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
JBrowse link
G Renbp renin binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12612874 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased activity:heart RGD PMID:16043946 RGD:1643022 NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:9220309 RGD:13702906 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Rtf1 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) ISS MouseDO NCBI chr 3:106,659,363...106,718,956
Ensembl chr 3:106,659,308...106,718,970
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:9536098 PMID:17576681 PMID:19926015 PMID:23861362 PMID:24033266 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:serum RGD PMID:18068619 RGD:2324684 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, 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: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:9521325 PMID:10807545 PMID:10807547 PMID:10966831 PMID:11463728