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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Hypertrophy
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Accession:DOID:9000040 term browser browse the term
Definition:General increase in bulk of a part or organ due to CELL ENLARGEMENT and accumulation of FLUIDS AND SECRETIONS, not due to tumor formation, nor to an increase in the number of cells (HYPERPLASIA).
Synonyms:exact_synonym: Hypertrophies
 primary_id: MESH:D006984;   RDO:0001544
 xref: EFO:0002460



show annotations for term's descendants           Sort by:
Hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19553346 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:12054679 PMID:12237323 PMID:18785976 PMID:21071431 PMID:24039778 More... NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20961953 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943
JBrowse link
G ANGPT1 angiopoietin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18502941 NCBI chr 4:29,925,203...30,233,434
Ensembl chr 4:29,933,135...30,233,960
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27652271 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
G CREM cAMP responsive element modulator ISO CTD Direct Evidence: therapeutic CTD PMID:12791704 NCBI chr10:57,829,523...57,895,610
Ensembl chr10:57,829,518...57,895,610
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:18785976 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12791704 PMID:20177073 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26385185 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12237323 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12237323 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18273840 NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO CTD Direct Evidence: therapeutic CTD PMID:20582486 NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055
JBrowse link
G NPY neuropeptide Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:9812770 NCBI chr18:47,985,796...47,993,726
Ensembl chr18:47,985,725...47,992,667
JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:19211884 NCBI chr14:99,929,590...100,021,619 JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23297412 NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,167...71,123,297
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20177073 NCBI chr 9:32,332,768...32,439,184
Ensembl chr 9:32,332,771...32,439,184
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 chr13:118,623,787...118,773,205
Ensembl chr13:118,626,330...118,682,281
JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V OMIM
ClinVar
PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 More... NCBI chr13:118,907,299...118,913,270
Ensembl chr13:118,902,666...118,913,270
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 chr13:118,839,314...118,899,804
Ensembl chr13:118,839,338...118,900,136
JBrowse link
Banti's Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO protein:increased expression:serum (human) RGD PMID:21290180 RGD:25671452 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
JBrowse link
G ITGB3 integrin subunit beta 3 ISO DNA:missense mutation: :p.L33P (human) RGD PMID:18685811 RGD:10755472 NCBI chr12:16,694,466...16,752,228
Ensembl chr12:16,693,514...16,752,292
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:18685811 RGD:10755472 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:18685811 RGD:10755472 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
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 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320
JBrowse link
G TNNI3K TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition OMIM
ClinVar
PMID:16199547 PMID:24925317 PMID:25741868 PMID:25791106 PMID:28492532 More... NCBI chr 6:138,634,770...138,914,194
Ensembl chr 6:138,634,274...138,914,115
JBrowse link
Cardiomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin ISO RGD PMID:12494268 RGD:1549856 NCBI chr 5:62,406,928...62,483,690
Ensembl chr 5:62,440,810...62,483,678
JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 treatment ISO RGD PMID:24342267 RGD:11039415 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
JBrowse link
G ADCY10 adenylate cyclase 10 ameliorates ISO RGD PMID:29466442 RGD:329337358 NCBI chr 4:83,103,768...83,205,015
Ensembl chr 4:83,098,290...83,205,454
JBrowse link
G ADRA1B adrenoceptor alpha 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:11278430 PMID:11940550 NCBI chr16:63,550,123...64,010,838
Ensembl chr16:63,550,130...63,603,034
JBrowse link
G ADRA2A adrenoceptor alpha 2A ISO CTD Direct Evidence: therapeutic CTD PMID:20083574 NCBI chr14:121,469,572...121,470,924
Ensembl chr14:121,469,527...121,470,924
JBrowse link
G ADRA2C adrenoceptor alpha 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:20083574 NCBI chr 8:2,320,125...2,322,162
Ensembl chr 8:2,320,226...2,321,608
JBrowse link
G AGT angiotensinogen treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic RGD
CTD
PMID:11403367 PMID:15226216 PMID:15851630 PMID:15870116 PMID:17124262 More... RGD:11039415 RGD:155663352 RGD:5129174 RGD:8548902 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:10639182 PMID:11324571 PMID:17350036 PMID:21367774 RGD:10047105 RGD:5129174 RGD:737777 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105
JBrowse link
G AGTRAP angiotensin II receptor associated protein ISO RGD PMID:18725581 RGD:2314351 NCBI chr 6:71,825,319...71,836,812 JBrowse link
G AHR aryl hydrocarbon receptor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12665660 PMID:23528973 PMID:24247421 RGD:401784499 RGD:401793732 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943
JBrowse link
G AKAP5 A-kinase anchoring protein 5 ISO human gene, mouse model
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:11248077 RGD:2313290 NCBI chr 7:88,538,938...88,544,330
Ensembl chr 7:88,538,984...88,547,392
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12237475 PMID:24448315 RGD:734544
G ANKRD1 ankyrin repeat domain 1 ISO RGD PMID:10904011 RGD:1578370 NCBI chr14:102,603,777...102,612,857
Ensembl chr14:102,603,777...102,612,839
JBrowse link
G ANXA2 annexin A2 ISO mRNA:increased expression:heart: RGD PMID:10603972 RGD:10053694 NCBI chr 1:111,588,721...111,635,064
Ensembl chr 1:111,588,306...111,635,059
JBrowse link
G ANXA5 annexin A5 ISO mRNA:increased expression:heart: RGD PMID:10603972 RGD:10053694 NCBI chr 8:102,387,833...102,420,868
Ensembl chr 8:102,388,103...102,425,750
JBrowse link
G AOC1 amine oxidase copper containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6218830 NCBI chr18:6,309,583...6,321,016
Ensembl chr18:6,309,594...6,320,974
JBrowse link
G APLN apelin ISO associated with Hypertension;protein:decreased expression:plasma, aorta, ventricle myocardium
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16674982 PMID:30634441 RGD:1626173 NCBI chr  X:106,236,746...106,246,563
Ensembl chr  X:106,236,749...106,246,377
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr 4:98,333,431...98,390,012
Ensembl chr 4:98,333,459...98,389,457
JBrowse link
G ATF3 activating transcription factor 3 ISO RGD PMID:11485922 RGD:7327201 NCBI chr 9:130,772,259...130,829,678
Ensembl chr 9:130,772,262...130,785,506
JBrowse link
G ATG16L1 autophagy related 16 like 1 treatment ISO RGD PMID:24998254 RGD:11561938 NCBI chr15:133,651,294...133,693,472
Ensembl chr15:133,651,298...133,693,468
JBrowse link
G ATG5 autophagy related 5 treatment ISO RGD PMID:24998254 RGD:11561938 NCBI chr 1:72,343,950...72,520,402
Ensembl chr 1:72,270,799...72,520,396
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO RGD PMID:15644428 RGD:6903354 NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,341,322...90,370,996
JBrowse link
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:11679415 PMID:29792884 RGD:13782078 NCBI chr14:31,674,659...31,744,981
Ensembl chr14:31,674,757...31,744,969
JBrowse link
G ATP5F1D ATP synthase F1 subunit delta treatment ISO RGD PMID:25880160 RGD:13792672 NCBI chr 2:77,216,430...77,219,301
Ensembl chr 2:77,216,436...77,222,632
JBrowse link
G AVPR1A vasopressin receptor 1A ISO associated with Heart Failure, Congestive RGD PMID:18467593 RGD:2300338 NCBI chr 5:27,824,991...27,832,794
Ensembl chr 5:27,824,992...27,832,703
JBrowse link
G BAD BCL2 associated agonist of cell death treatment ISO associated with Hypertension RGD PMID:21921241 RGD:10053646 NCBI chr 2:7,831,192...7,842,864
Ensembl chr 2:7,830,920...7,842,863
JBrowse link
G BAMBI BMP and activin membrane bound inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr10:40,053,368...40,058,590
Ensembl chr10:40,053,355...40,060,319
JBrowse link
G BECN1 beclin 1 treatment ISO mRNA, protein:increased expression:heart left ventricle RGD PMID:23326547 PMID:24998254 RGD:11561904 RGD:11561938 NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO protein:increased expression:heart: RGD PMID:23747723 RGD:8847123 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637
JBrowse link
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit ISO RGD PMID:18420946 RGD:9686423
G CABIN1 calcineurin binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11248077 NCBI chr14:49,686,196...49,787,723
Ensembl chr14:49,686,196...49,787,688
JBrowse link
G CAMK2D calcium/calmodulin dependent protein kinase II delta treatment ISO RGD PMID:26619200 RGD:401940196 NCBI chr 8:108,916,019...109,221,317
Ensembl chr 8:108,915,572...109,222,905
JBrowse link
G CAV1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:aorta
CTD
RGD
PMID:17487232 RGD:2289120 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
JBrowse link
G CAV3 caveolin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19299911 NCBI chr13:65,117,868...65,130,886
Ensembl chr13:65,117,795...65,131,273
JBrowse link
G CCND2 cyclin D2 ISO CTD Direct Evidence: therapeutic CTD PMID:15576649 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571
JBrowse link
G CD36 CD36 molecule treatment ISO associated with Obesity RGD PMID:26036798 RGD:11040928 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
JBrowse link
G CD38 CD38 molecule ISO RGD PMID:18719074 RGD:2307236 NCBI chr 8:11,083,682...11,130,783
Ensembl chr 8:11,083,682...11,130,756
JBrowse link
G CD44 CD44 molecule ISO protein:increased expression:coronary artery RGD PMID:18196276 RGD:2289364 NCBI chr 2:25,788,699...25,884,209
Ensembl chr 2:25,788,703...25,884,153
JBrowse link
G CEBPB CCAAT enhancer binding protein beta ISO CTD Direct Evidence: therapeutic CTD PMID:29266779 NCBI chr17:51,722,633...51,723,673
Ensembl chr17:51,722,426...51,724,305
JBrowse link
G CORIN corin, serine peptidase ISO mRNA:increased expression:heart (rat)
DNA:SNPs:associated with increased risk
RGD PMID:15191894 PMID:17485366 RGD:1581217 RGD:1626338 NCBI chr 8:37,530,812...37,811,226
Ensembl chr 8:37,530,815...37,809,761
JBrowse link
G COX5B mitochondrial cytochrome c oxidase subunit Vb ISO associated with Hypertension RGD PMID:16132109 RGD:2301377 NCBI chr 3:56,630,297...56,632,107
Ensembl chr 3:56,629,272...56,632,119
JBrowse link
G CPT1B carnitine palmitoyltransferase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24330405 NCBI chr 5:155,552...163,536
Ensembl chr 5:155,643...163,531
JBrowse link
G CREM cAMP responsive element modulator ISO RGD PMID:15569686 RGD:1581291 NCBI chr10:57,829,523...57,895,610
Ensembl chr10:57,829,518...57,895,610
JBrowse link
G CS citrate synthase ISO RGD PMID:12941647 RGD:243048478 NCBI chr 5:21,669,778...21,700,737
Ensembl chr 5:21,666,585...21,700,711
JBrowse link
G CTF1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18400235 PMID:19100119 NCBI chr 3:17,539,927...17,545,250
Ensembl chr 3:17,539,941...17,544,396
JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO mRNA:increased expression:cardiac muscle tissue (rat)
mRNA:increased expression:cardiac muscle tissue (mouse)
RGD PMID:19349910 RGD:4145630 NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18725507 PMID:23528973 RGD:401793732 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 treatment ISO associated with Hypertension
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18725507 PMID:20805442 PMID:23528973 RGD:401793732 RGD:7829714 NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18725507 NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817
JBrowse link
G DLL4 delta like canonical Notch ligand 4 treatment ISO RGD PMID:23188126 RGD:155663352 NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411
JBrowse link
G DMD dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23297412 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840
JBrowse link
G DSG2 desmoglein 2 ISO protein:increased expression:heart (rat) RGD PMID:26708424 RGD:264347602 NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,243...115,454,340
JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A treatment ISO protein:decreased expression:heart (rat) RGD PMID:19906449 PMID:24524606 PMID:26619200 RGD:401940196 RGD:401959210 RGD:401959215 NCBI chr13:201,008,506...201,159,946
Ensembl chr13:201,009,480...201,159,948
JBrowse link
G EDN1 endothelin 1 severity ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:heart ventricle, plasma (rat)
CTD
RGD
PMID:7771559 PMID:22198280 RGD:8661803 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G EGFR epidermal growth factor receptor ISO RGD PMID:15652507 RGD:1580954 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
JBrowse link
G EGR1 early growth response 1 ISO RGD PMID:16025126 RGD:5131654 NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
JBrowse link
G EP300 E1A binding protein p300 ISO associated with Diabetes Mellitus, Experimental; mRNA:increased expression:heart left ventricle (rat) RGD PMID:23211718 RGD:7327187 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr 3:94,167,759...94,253,662
Ensembl chr 3:94,165,816...94,254,079
JBrowse link
G ERRFI1 ERBB receptor feedback inhibitor 1 treatment ISO protein:increased expression:heart: RGD PMID:19204184 RGD:9685562 NCBI chr 6:68,667,651...68,682,629
Ensembl chr 6:68,669,153...68,682,623
JBrowse link
G FADS2 fatty acid desaturase 2 treatment ISO RGD PMID:24284026 RGD:401901245 NCBI chr 2:9,633,941...9,666,666
Ensembl chr 2:9,629,423...9,735,576
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:heart
CTD
RGD
PMID:10491406 PMID:18196276 RGD:2289364 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
JBrowse link
G FGF21 fibroblast growth factor 21 ISO RGD PMID:23771152 RGD:10401893 NCBI chr 6:54,082,653...54,084,532
Ensembl chr 6:54,080,739...54,084,601
JBrowse link
G FHL2 four and a half LIM domains 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25358972 NCBI chr 3:49,389,900...49,448,459
Ensembl chr 3:49,363,555...49,467,527
JBrowse link
G FNDC5 fibronectin type III domain containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:30703374 NCBI chr 6:89,163,363...89,171,871
Ensembl chr 6:89,163,378...89,171,795
JBrowse link
G GAS6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19564549 NCBI chr11:78,848,797...78,880,733
Ensembl chr11:78,848,797...78,881,284
JBrowse link
G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16259952 PMID:18252717 NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,884,662...14,939,941
JBrowse link
G GDF1 growth differentiation factor 1 exacerbates ISO RGD PMID:24275554 RGD:11252017 NCBI chr 2:58,972,918...58,976,294
Ensembl chr 2:58,951,726...58,974,672
JBrowse link
G GLRX3 glutaredoxin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:16809552 NCBI chr14:139,072,554...139,108,063
Ensembl chr14:139,072,575...139,111,249
JBrowse link
G GNAQ G protein subunit alpha q ISO RGD PMID:9811897 RGD:1598475 NCBI chr 1:230,607,469...230,906,988
Ensembl chr 1:230,605,265...230,907,674
JBrowse link
G GPX3 glutathione peroxidase 3 treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026
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:11052788 RGD:13792712 NCBI chr 2:5,209,435...5,227,543
Ensembl chr 2:5,209,439...5,227,758
JBrowse link
G GRK3 G protein-coupled receptor kinase 3 ISO mRNA:increased expression:heart left ventricle (rat) RGD PMID:20677219 RGD:5685025 NCBI chr14:43,305,255...43,445,626
Ensembl chr14:43,224,930...43,442,965
JBrowse link
G GSK3B glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17901358 PMID:19318234 RGD:10045585 NCBI chr13:140,136,109...140,370,197
Ensembl chr13:140,136,158...140,369,569
JBrowse link
G GSN gelsolin treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:30240538 RGD:329333015 NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848
JBrowse link
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,984
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO RGD PMID:24424338 RGD:11041632 NCBI chr 6:44,785,863...44,787,303
Ensembl chr 6:44,784,160...44,787,305
JBrowse link
G HAND1 heart and neural crest derivatives expressed 1 ISO mRNA:decreased expression:heart ventricle
mRNA:decreased expression:heart left ventricle
RGD PMID:12359233 RGD:727442 NCBI chr16:68,679,977...68,683,346
Ensembl chr16:68,677,963...68,683,342
JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 ISO mRNA:altered expression:cardiac ventricle
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:heart right ventricle
RGD
CTD
PMID:12359233 PMID:29394407 RGD:727442 NCBI chr14:16,460,089...16,462,979
Ensembl chr14:16,459,971...16,462,207
JBrowse link
G HAS1 hyaluronan synthase 1 ISO mRNA:increased expression:heart RGD PMID:18196276 RGD:2289364 NCBI chr 6:58,303,274...58,313,486
Ensembl chr 6:58,302,799...58,313,486
JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:increased acetylation:heart:
protein:increased activity:heart:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18625706 PMID:18849323 PMID:24526703 RGD:2306446 RGD:9590211 NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
JBrowse link
G HDAC8 histone deacetylase 8 treatment ISO associated with Hypertension RGD PMID:23868068 PMID:25504627 RGD:13208811 RGD:9681716 NCBI chr  X:58,210,182...58,450,681
Ensembl chr  X:58,210,192...58,450,573
JBrowse link
G HES1 hes family bHLH transcription factor 1 treatment ISO RGD PMID:23188126 RGD:155663352 NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,725...131,138,237
JBrowse link
G HFE homeostatic iron regulator ISO associated with hemochromatosis RGD PMID:28720890 RGD:14746969 NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12665660 PMID:15942707 RGD:401784499 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
JBrowse link
G HMGB1 high mobility group box 1 treatment ISO RGD PMID:23708738 RGD:10402070 NCBI chr11:7,195,556...7,321,071 JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15226216
G HRC histidine rich calcium binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17030629 NCBI chr 6:54,337,348...54,341,638
Ensembl chr 6:54,337,347...54,341,625
JBrowse link
G HSF1 heat shock transcription factor 1 treatment ISO RGD PMID:25804640 RGD:10402399 NCBI chr 4:463,531...486,483
Ensembl chr 4:463,393...486,473
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO protein:increased expression:heart RGD PMID:20005206 RGD:401938624 NCBI chr11:20,555,939...20,620,225
Ensembl chr11:20,555,963...20,619,625
JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15302781 PMID:19023134 PMID:20374255 NCBI chr15:131,844,578...131,860,417
Ensembl chr15:131,844,992...131,859,277
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554
JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10547078 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:18801929 RGD:2311509 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058
JBrowse link
G IL18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18660453 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
JBrowse link
G IL1RL1 interleukin 1 receptor like 1 severity ISO RGD PMID:17492053 RGD:40813740 NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
JBrowse link
G IL33 interleukin 33 treatment ISO protein:increased expression:cardiomyocyte RGD PMID:17492053 RGD:40813740 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
JBrowse link
G IL6 interleukin 6 ISO mRNA, protein:increased expression:heart RGD PMID:15542404 RGD:1581939 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer ISO RGD PMID:10219240 RGD:737751 NCBI chr16:35,101,304...35,151,832
Ensembl chr16:35,101,306...35,192,220
JBrowse link
G IRF4 interferon regulatory factor 4 ISO RGD PMID:23589561 RGD:11530060 NCBI chr 7:133,358...149,609
Ensembl chr 7:133,371...149,609
JBrowse link
G IRX4 iroquois homeobox 4 ISO RGD PMID:11238910 RGD:1582289 NCBI chr16:78,940,033...78,944,855
Ensembl chr16:78,937,566...78,945,269
JBrowse link
G ITGA3 integrin subunit alpha 3 ISO protein:increased expression:cardiac myocyte (rat) RGD PMID:1835909 RGD:2325829 NCBI chr12:26,234,769...26,269,327
Ensembl chr12:26,235,258...26,269,324
JBrowse link
G ITPR2 inositol 1,4,5-trisphosphate receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20616315 NCBI chr 5:46,935,923...47,465,681
Ensembl chr 5:46,935,932...47,464,125
JBrowse link
G KAT8 lysine acetyltransferase 8 treatment ISO mRNA, protein:decreased expression:heart (mouse)
human gene in a mouse model
RGD PMID:24802406 RGD:9586036 NCBI chr 3:17,362,326...17,373,110
Ensembl chr 3:17,362,267...17,373,110
JBrowse link
G KCND3 potassium voltage-gated channel subfamily D member 3 ISO protein:decreased expression:heart: RGD PMID:23747723 RGD:8847123 NCBI chr 4:108,394,687...108,621,514
Ensembl chr 4:108,246,237...108,621,510
JBrowse link
G KDM4A lysine demethylase 4A ISO RGD PMID:21555854 RGD:9587422 NCBI chr 6:167,597,954...167,642,381
Ensembl chr 6:167,597,956...167,642,333
JBrowse link
G KL klotho treatment ISO RGD PMID:23225045 RGD:10403062 NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,037...9,479,228
JBrowse link
G KLF5 KLF transcription factor 5 ISO RGD PMID:15098654 RGD:1304323 NCBI chr11:45,370,009...45,386,673
Ensembl chr11:45,369,810...45,388,314
JBrowse link
G KLK1 kallikrein 1 ISO RGD PMID:17137568 RGD:1641797 NCBI chr 6:55,570,632...55,576,398
Ensembl chr 6:55,570,635...55,576,636
JBrowse link
G LIF LIF interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:15226216 NCBI chr14:47,221,540...47,239,513
Ensembl chr14:47,221,560...47,238,749
JBrowse link
G LOC100736765 myosin-6 ISO RGD PMID:1703406 RGD:12798563 NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO mRNA, protein:increased expression:heart
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15302781 PMID:15542404 RGD:1581939
G LOXL1 lysyl oxidase like 1 ISO RGD PMID:17378376 RGD:7394734 NCBI chr 7:59,481,410...59,505,161
Ensembl chr 7:59,481,412...59,505,149
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 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502
JBrowse link
G LYN LYN proto-oncogene, Src family tyrosine kinase ISO RGD PMID:17039281 RGD:2303711 NCBI chr 4:75,793,273...75,903,710
Ensembl chr 4:75,793,492...75,903,496
JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha treatment ISO RGD PMID:24998254 RGD:11561938 NCBI chr17:37,957,830...37,959,505
Ensembl chr17:37,957,507...37,959,505
JBrowse link
G MAP2K5 mitogen-activated protein kinase kinase 5 ISO RGD PMID:11387209 RGD:1580866 NCBI chr 1:165,458,263...165,733,452
Ensembl chr 1:165,458,258...165,740,297
JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12750397 PMID:15722372 RGD:13782145 RGD:1582275 NCBI chr12:10,891,445...11,018,617
Ensembl chr12:10,894,966...11,018,641
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 treatment
ameliorates
ISO mRNA:increased expression:wall of left ventricle (rat)
protein:increased phosphorylation:heart (mouse)
RGD PMID:26891723 PMID:27956576 PMID:28821620 PMID:30407523 PMID:30854566 More... RGD:11555743 RGD:155791643 RGD:155791644 RGD:155791647 RGD:155791649 RGD:155791650 RGD:155791668 RGD:155791674 RGD:155804266 NCBI chr 1:58,482,046...58,548,087
Ensembl chr 1:58,481,956...58,548,057
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO RGD PMID:15607907 RGD:1582283 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO RGD PMID:12668503 RGD:1582316 NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874
JBrowse link
G MEIS1 Meis homeobox 1 ISO mRNA, protein:decreased expression:heart (mouse) RGD PMID:26597775 RGD:11554891 NCBI chr 3:75,485,024...75,625,855
Ensembl chr 3:75,485,022...75,625,040
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:ventricle (rat) RGD PMID:10489112 RGD:2317547 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512
JBrowse link
G MFN1 mitofusin 1 treatment ISO RGD PMID:28503736 RGD:12910714 NCBI chr13:117,404,637...117,441,750
Ensembl chr13:117,404,699...117,442,481
JBrowse link
G MFN2 mitofusin 2 treatment ISO mRNA, protein:decreased expression:heart (mouse)
CTD Direct Evidence: marker/mechanism
associated with Hypertension:protein:decreased expression:heart (rat)
RGD
CTD
PMID:17499311 PMID:27085127 PMID:27565029 PMID:27847271 PMID:28503736 RGD:12910714 RGD:12910764 RGD:12910768 RGD:12910835 NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438
JBrowse link
G MIR145 microRNA mir-145 treatment ISO miRNA:increased expression:blood serum (human) RGD PMID:35139769 RGD:155260312 NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211
JBrowse link
G MIR21 microRNA mir-21 ISO CTD Direct Evidence: marker/mechanism
RNA:increased expression:heart:
CTD
RGD
PMID:17525252 PMID:32040481 RGD:41404711 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
JBrowse link
G MIR23A microRNA mir-23a ISO RGD PMID:22084234 RGD:155882559 NCBI chr 2:65,308,117...65,308,186
Ensembl chr 2:65,308,117...65,308,186
JBrowse link
G MIR30A microRNA mir-30a ISO RNA:decreased expression:heart left ventricle RGD PMID:23326547 RGD:11561904 NCBI chr 1:51,412,827...51,412,933
Ensembl chr 1:51,412,827...51,412,933
JBrowse link
G MIR30B microRNA mir-30b ISO RNA:decreased expression:heart left ventricle RGD PMID:23326547 RGD:11561904 NCBI chr 4:6,952,794...6,952,869
Ensembl chr 4:6,952,794...6,952,869
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:16327176 RGD:1582627 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO mRNA:increased expression:heart left ventricle RGD PMID:17207419 RGD:1642047 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
JBrowse link
G MT-2B metallothionein-2A ISO CTD Direct Evidence: therapeutic CTD PMID:11309296 NCBI chr 6:18,645,125...18,646,034
Ensembl chr 6:18,645,153...18,646,033
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO associated with Aortic Valve Stenosis RGD PMID:20861467 RGD:10003169 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
G MYBPC3 myosin binding protein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22189562 NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor treatment ISO RGD PMID:22000973 RGD:7240700 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078
JBrowse link
G MYOCD myocardin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16556869 NCBI chr12:56,931,628...57,029,258
Ensembl chr12:56,931,317...57,029,258
JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 ISO RGD PMID:24388463 RGD:7800726 NCBI chr 2:15,031,147...15,036,880
Ensembl chr 2:15,031,149...15,036,880
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
JBrowse link
G NKX2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28973413 NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,162
JBrowse link
G NME1 NME/NM23 nucleoside diphosphate kinase 1 ISO protein:increased expression:heart, plasma membrane (rat) RGD PMID:14559858 RGD:5132887 NCBI chr12:27,416,308...27,435,044
Ensembl chr12:27,416,346...27,436,140
JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:17673519 RGD:1642136 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944
JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO protein:increased expression:aorta
CTD Direct Evidence: marker/mechanism|therapeutic
RGD
CTD
PMID:11504159 PMID:12224825 PMID:16844920 PMID:17487232 PMID:29331788 RGD:13504707 RGD:2289120 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
JBrowse link
G NOTCH1 notch receptor 1 treatment ISO RGD PMID:23188126 RGD:155663352
G NPPA natriuretic peptide A treatment
ameliorates
ISO mRNA, protein:increased expression:heart (mouse)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12224825 PMID:18056528 PMID:20886221 PMID:21242511 PMID:21297083 More... RGD:11252017 RGD:11554891 RGD:155663352 RGD:7297051 NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,918,845...71,921,405
JBrowse link
G NPPB natriuretic peptide B treatment
ameliorates
ISO mRNA:decreased expression:heart (mouse)
CTD Direct Evidence: marker/mechanism
associated with Hypertension;mRNA:increased expression:heart
RGD
CTD
PMID:15942707 PMID:15969258 PMID:16762434 PMID:18056528 PMID:21273244 More... RGD:11252017 RGD:1642206 RGD:401940178 RGD:7297051 NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,930,382...71,932,254
JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO CTD Direct Evidence: marker/mechanism
associated with Hypertension
CTD
RGD
PMID:9405681 PMID:20881240 RGD:737701 NCBI chr 4:95,957,220...95,974,253
Ensembl chr 4:95,957,228...95,973,430
JBrowse link
G OGT O-linked N-acetylglucosamine (GlcNAc) transferase ISO protein:increased expression:heart left ventricle (rat) RGD PMID:22128088 RGD:9590202 NCBI chr  X:57,521,091...57,558,467
Ensembl chr  X:57,521,098...57,558,515
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase treatment ISO associated with Hypertension RGD PMID:22406748 PMID:24388463 PMID:28503736 RGD:12910714 RGD:7800697 RGD:7800726 NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083
JBrowse link
G PAK1 p21 (RAC1) activated kinase 1 ISO RGD PMID:22082674 RGD:11533929 NCBI chr 9:11,830,095...11,973,074
Ensembl chr 9:11,830,095...12,020,415
JBrowse link
G PARP2 poly(ADP-ribose) polymerase 2 treatment ISO RGD PMID:25281201 RGD:13514043 NCBI chr 7:78,535,072...78,551,393
Ensembl chr 7:78,535,076...78,551,375
JBrowse link
G PDE5A phosphodiesterase 5A treatment ISO RGD PMID:15665834 RGD:1581008 NCBI chr 8:104,270,858...104,420,955
Ensembl chr 8:104,270,881...104,420,953
JBrowse link
G PDE9A phosphodiesterase 9A treatment ISO RGD PMID:25799991 PMID:28649129 PMID:33464954 RGD:240550109 RGD:241060360 RGD:242905185 NCBI chr13:205,938,342...206,034,981
Ensembl chr13:205,938,348...206,034,976
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO associated with Hypertension;protein:increased expression:heart RGD PMID:11973598 RGD:2292215 NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:12963636 NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
JBrowse link
G PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 ISO RGD PMID:23487407 RGD:8693424 NCBI chr 2:68,715,898...68,729,471
Ensembl chr 2:68,715,880...68,729,870
JBrowse link
G PLAU plasminogen activator, urokinase treatment ISO RGD PMID:22160250 RGD:7241558 NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
JBrowse link
G PLD1 phospholipase D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15988127 NCBI chr13:110,152,268...110,376,319
Ensembl chr13:110,154,874...110,376,294
JBrowse link
G PLD2 phospholipase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15988127 NCBI chr12:52,073,913...52,087,804
Ensembl chr12:52,073,914...52,087,809
JBrowse link
G PLPP3 phospholipid phosphatase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28982073 NCBI chr 6:155,800,838...155,894,919
Ensembl chr 6:155,800,678...155,894,912
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 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418
JBrowse link
G POSTN periostin severity ISO mRNA,protein:increased expression:left ventricle: RGD PMID:16414453 RGD:10040951 NCBI chr11:13,225,183...13,258,973
Ensembl chr11:13,224,959...13,258,978
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:22198280 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239
JBrowse link
G PPARD peroxisome proliferator activated receptor delta ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:15728586 PMID:20075336 RGD:1580656 NCBI chr 7:31,222,533...31,295,221
Ensembl chr 7:31,222,585...31,295,211
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO protein:increased expression:myocardium of left ventricle (rat) RGD PMID:14726475 PMID:22105890 RGD:10053662 RGD:7242192 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992
JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:12515860 PMID:21273244 RGD:401940178 RGD:734902 NCBI chr 8:119,429,181...119,754,615
Ensembl chr 8:119,428,779...119,753,105
JBrowse link
G PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 ISO CTD Direct Evidence: therapeutic CTD PMID:18812163 NCBI chr 6:155,683,392...155,754,283
Ensembl chr 6:155,681,784...155,754,278
JBrowse link
G PRKCA protein kinase C alpha ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15792354 PMID:21565836 RGD:1581271 NCBI chr12:12,882,287...13,268,647
Ensembl chr12:12,882,064...13,263,554
JBrowse link
G PRKCB protein kinase C beta ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:12887134 PMID:17121852 RGD:1581276 NCBI chr 3:21,995,227...22,383,628
Ensembl chr 3:21,995,231...22,383,264
JBrowse link
G PRKCD protein kinase C delta ISO associated with Hypertension RGD PMID:15792354 RGD:1581271 NCBI chr13:35,290,835...35,323,245
Ensembl chr13:35,290,610...35,323,356
JBrowse link
G PRKCE protein kinase C epsilon ISO RGD PMID:15792354 RGD:1581271 NCBI chr 3:94,351,277...94,864,549
Ensembl chr 3:94,349,889...94,866,306
JBrowse link
G PRKCZ protein kinase C zeta ISO CTD Direct Evidence: therapeutic CTD PMID:27094369 NCBI chr 6:64,073,343...64,159,187
Ensembl chr 6:64,068,577...64,163,472
JBrowse link
G PRKD1 protein kinase D1 ameliorates ISO protein:increased activity:heart (mouse)
human gene in a mouse model
protein:increased phosphorylation:heart left ventricle (rat)
RGD PMID:16648482 PMID:18287012 PMID:24161911 PMID:36172952 RGD:243048462 RGD:243065275 RGD:307436945 RGD:329322877 NCBI chr 7:69,527,743...69,872,374
Ensembl chr 7:69,527,811...69,872,863
JBrowse link
G PTEN phosphatase and tensin homolog ISO RGD PMID:11448956 PMID:16188065 RGD:1581282 RGD:2292549 NCBI chr14:99,929,590...100,021,619 JBrowse link
G RAC1 Rac family small GTPase 1 ISO RGD PMID:16651530 PMID:16698001 RGD:1581293 RGD:1581294 NCBI chr 3:4,781,776...4,803,510
Ensembl chr 3:4,781,780...4,803,543
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 chr13:68,581,128...68,657,911
Ensembl chr13:68,580,812...68,657,829
JBrowse link
G RAMP2 receptor activity modifying protein 2 ISO RGD PMID:15680493 RGD:1642686 NCBI chr12:20,092,204...20,094,426
Ensembl chr12:20,092,196...20,094,469
JBrowse link
G RAPGEF3 Rap guanine nucleotide exchange factor 3 susceptibility ISO protein:increased expression:left ventricle myocardium (rat) RGD PMID:18323524 PMID:25411381 RGD:9835356 RGD:9850089 NCBI chr 5:78,101,286...78,134,150
Ensembl chr 5:78,101,299...78,134,105
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO RGD PMID:18420946 RGD:9686423 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690
JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121852 NCBI chr17:34,784,018...34,801,228
Ensembl chr17:34,784,016...34,801,230
JBrowse link
G RBM10 RNA binding motif protein 10 ISO protein:decreased expression:heart RGD PMID:30257214 RGD:151667449 NCBI chr  X:41,773,232...41,803,656
Ensembl chr  X:41,773,232...41,803,653
JBrowse link
G RBP4 retinol binding protein 4 ameliorates ISO RGD PMID:25911613 RGD:329845871 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
JBrowse link
G RCAN1 regulator of calcineurin 1 ISO RGD PMID:12124198 PMID:12515860 RGD:625605 RGD:734902 NCBI chr13:198,106,256...198,205,727
Ensembl chr13:198,102,098...198,205,629
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit treatment ISO RGD PMID:15728586 PMID:15749748 RGD:1580656 RGD:1581122 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
JBrowse link
G REN renin ISO mRNA:increased expression:heart, kidney (mouse)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15367398 PMID:20429690 PMID:20811386 RGD:6771378 NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,658
JBrowse link
G RHOA ras homolog family member A ISO associated with Hypertension;protein:increased activation:heart
protein:increased expression:cardiac muscle cell
RGD PMID:17184496 PMID:17316608 RGD:1642807 RGD:1642810 NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,834...31,986,607
JBrowse link
G ROCK2 Rho associated coiled-coil containing protein kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 3:125,353,063...125,493,368
Ensembl chr 3:125,352,920...125,493,362
JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased threonine phosphorylation:heart left ventricle RGD PMID:16540832 RGD:1642998 NCBI chr12:36,111,584...36,159,287
Ensembl chr12:36,111,653...36,160,376
JBrowse link
G RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18056528 RGD:2311701 NCBI chr 6:27,601,692...27,605,127
Ensembl chr 6:27,601,695...27,605,083
JBrowse link
G S100A1 S100 calcium binding protein A1 ISO RGD PMID:12619862 RGD:735233 NCBI chr 4:96,007,026...96,012,305
Ensembl chr 4:96,007,028...96,012,310
JBrowse link
G S1PR1 sphingosine-1-phosphate receptor 1 ISO RGD PMID:11549339 RGD:1357201 NCBI chr 4:117,064,632...117,069,724
Ensembl chr 4:117,064,755...117,069,650
JBrowse link
G SHAS2 hyaluronan synthase 2 ISO mRNA:increased expression:heart RGD PMID:18196276 RGD:2289364 NCBI chr 4:17,583,154...17,613,524
Ensembl chr 4:17,596,492...17,615,480
JBrowse link
G SHC1 SHC adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19168439 NCBI chr 4:94,818,226...94,831,766
Ensembl chr 4:94,810,875...94,831,765
JBrowse link
G SIRT1 sirtuin 1 treatment ISO RGD PMID:25281201 RGD:13514043 NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,167...71,123,297
JBrowse link
G SIRT4 sirtuin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27099261 NCBI chr14:40,290,288...40,303,887
Ensembl chr14:40,290,288...40,303,879
JBrowse link
G SIRT6 sirtuin 6 ISO CTD Direct Evidence: marker/mechanism|therapeutic RGD
CTD
PMID:22335191 PMID:35798905 RGD:9586060 NCBI chr 2:74,568,539...74,577,774
Ensembl chr 2:74,568,493...74,577,772
JBrowse link
G SLC25A4 solute carrier family 25 member 4 treatment ISO associated with Hypertension RGD PMID:17210842 RGD:9681469 NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987
JBrowse link
G SLC2A4 solute carrier family 2 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22221582 NCBI chr12:52,628,746...52,634,965
Ensembl chr12:52,628,450...52,634,967
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO associated with Anemia, Hemolytic RGD PMID:17056673 RGD:10450496 NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,807...18,974,208
JBrowse link
G SLC8A1 solute carrier family 8 member A1 ISO protein:increased serine phosphorylation:heart
associated with Hypertension;protein:decreased activity:heart left ventricle, cardiac muscle cell
RGD PMID:15615841 PMID:17446477 RGD:1642713 RGD:1642725 NCBI chr 3:99,823,503...100,257,306
Ensembl chr 3:99,897,162...100,244,759
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19293248 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
JBrowse link
G SOX4 SRY-box transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 7:16,886,834...16,895,488
Ensembl chr 7:16,891,319...16,892,752
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:15534078 RGD:1581339 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18194989 NCBI chr17:40,470,970...40,524,862
Ensembl chr17:40,471,009...40,524,860
JBrowse link
G SRD5A1 steroid 5 alpha-reductase 1 ISO mRNA:increased expression:heart left ventricle (human) RGD PMID:12374776 RGD:4891966 NCBI chr16:75,309,830...75,335,438
Ensembl chr16:75,310,211...75,335,391
JBrowse link
G SRF serum response factor ISO RGD PMID:12909581 RGD:1581425 NCBI chr 7:38,213,300...38,223,686
Ensembl chr 7:38,213,487...38,222,144
JBrowse link
G SRI sorcin ISO RGD PMID:11485922 RGD:7327201 NCBI chr 9:68,492,235...68,515,247
Ensembl chr 9:68,490,890...68,515,322
JBrowse link
G SRSF1 serine and arginine rich splicing factor 1 treatment ISO RGD PMID:26619200 RGD:401940196 NCBI chr12:34,278,363...34,282,164
Ensembl chr12:34,272,956...34,282,162
JBrowse link
G STAR steroidogenic acute regulatory protein ISO mRNA:increased expression:cardiac muscle tissue (rat) RGD PMID:19349910 RGD:4145630 NCBI chr15:48,377,597...48,385,398
Ensembl chr15:48,377,521...48,385,462
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 chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
JBrowse link
G STK11 serine/threonine kinase 11 ISO protein:decreased expression:heart RGD PMID:17098823 RGD:1601391 NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
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 chr14:71,927,387...71,985,239
Ensembl chr14:71,928,399...71,985,233
JBrowse link
G TBX20 T-box transcription factor 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr18:38,635,603...38,681,690
Ensembl chr18:38,635,617...38,678,133
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO mRNA, protein:increased expression:heart RGD PMID:15542404 RGD:1581939 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO RGD PMID:10067796 RGD:2290471 NCBI chr13:68,179,803...68,191,199
Ensembl chr13:68,179,806...68,190,942
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15302781 PMID:17337591 PMID:18034274 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
G TNNT2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:17556660 NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396
JBrowse link
G TOMM70 translocase of outer mitochondrial membrane 70 ISO protein:decreased expression:left ventricle myocardium
protein:decreased expression:heart
RGD PMID:25022898 RGD:13464131 NCBI chr13:158,577,026...158,629,878
Ensembl chr13:158,577,379...158,628,262
JBrowse link
G TRIM44 tripartite motif containing 44 ameliorates ISO mRNA,protein:increased expression:heart
mRNA:increased expression:heart
RGD PMID:35855640 RGD:329961579 NCBI chr 2:25,275,193...25,378,738
Ensembl chr 2:25,276,859...25,378,448
JBrowse link
G TRIM63 tripartite motif containing 63 ISO CTD Direct Evidence: therapeutic CTD PMID:19168726 NCBI chr 6:83,493,200...83,507,471
Ensembl chr 6:83,492,633...83,507,502
JBrowse link
G TRPC1 transient receptor potential cation channel subfamily C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17174323 NCBI chr13:83,436,343...83,498,419
Ensembl chr13:83,436,395...83,498,478
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 9:32,332,768...32,439,184
Ensembl chr 9:32,332,771...32,439,184
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 ISO mRNA:increased expression:heart RGD PMID:16966582 RGD:10003036 NCBI chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155
JBrowse link
G UBTF upstream binding transcription factor ISO RGD PMID:12885411 RGD:1580791 NCBI chr12:18,989,833...19,006,145
Ensembl chr12:18,989,836...19,006,129
JBrowse link
G UCP2 uncoupling protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:25703824 NCBI chr 9:8,358,559...8,364,552
Ensembl chr 9:8,358,025...8,365,547
JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr 1:252,651,850...252,690,817
Ensembl chr 1:252,651,879...252,688,550
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:12665660 RGD:401784499 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
JBrowse link
G VLDLR very low density lipoprotein receptor ISO associated with Hypertension; mRNA:decreased expression:heart ventricle RGD PMID:8603509 RGD:1625579 NCBI chr 1:219,178,501...219,210,332
Ensembl chr 1:219,173,507...219,210,343
JBrowse link
G YY1 YY1 transcription factor ISO RGD PMID:15567155 RGD:1580832 NCBI chr 7:121,132,168...121,170,699
Ensembl chr 7:121,132,191...121,170,697
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 chr 7:5,058,817...5,208,868
Ensembl chr 7:5,058,817...5,210,270
JBrowse link
G DSP desmoplakin ISO 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
ClinVar
PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 More... NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623
JBrowse link
G SNRNP48 small nuclear ribonucleoprotein U11/U12 subunit 48 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr 7:4,919,343...4,940,359
Ensembl chr 7:4,919,351...4,936,036
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 chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778
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 8:109,306,793...109,661,970 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 4:104,353,506...104,384,321
Ensembl chr 4:104,353,508...104,384,547
JBrowse link
G CALM1 calmodulin 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:23040497 PMID:23388215 PMID:24563457 PMID:24816216 PMID:25557436 More... NCBI chr 7:112,160,823...112,171,754
Ensembl chr 7:112,160,806...112,171,744
JBrowse link
G CASQ2 calsequestrin 2 ISO 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
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by term: 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
ClinVar PMID:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 More... NCBI chr 4:104,918,204...104,984,019
Ensembl chr 4:104,918,501...104,983,607
JBrowse link
G DMPK DM1 protein kinase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr 6:52,100,259...52,110,822
Ensembl chr 6:52,100,259...52,110,478
JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,243...115,454,340
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 PMID:33552729 NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623
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 chr18:6,242,826...6,279,154
Ensembl chr18:6,243,524...6,279,111
JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY ClinVar PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:15843404 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320
JBrowse link
G MAB21L3 mab-21 like 3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 4:104,572,922...104,651,287
Ensembl chr 4:104,599,818...104,625,234
JBrowse link
G MT1D metallothionein-1E ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 6:18,650,985...18,652,317 JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763
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 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104
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 4:104,852,287...104,858,042
Ensembl chr 4:104,857,635...104,858,042
JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
ClinVar 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
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
PMID:285698 PMID:1817325 PMID:1992601 PMID:8589694 PMID:9536098 More... NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY ClinVar PMID:15840476 PMID:19841300 PMID:20129283 PMID:22581653 PMID:23805106 More... NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755
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 4:104,662,844...104,755,667
Ensembl chr 4:104,664,015...104,755,672
JBrowse link
G TNNI3K TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 ClinVar PMID:25741868 NCBI chr 6:138,634,770...138,914,194
Ensembl chr 6:138,634,274...138,914,115
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 1:108,986,981...109,016,090
Ensembl chr 1:108,986,986...109,020,035
JBrowse link
G TRDN triadin ISO 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, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
ClinVar PMID:9536098 PMID:10497235 PMID:16199547 PMID:17576681 PMID:19403623 More... NCBI chr 1:39,180,544...39,567,245
Ensembl chr 1:39,180,913...39,567,240
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 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155
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 4:104,994,341...105,048,853
Ensembl chr 4:104,996,073...105,048,775
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 chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126
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: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy RGD
ClinVar
PMID:12166651 PMID:15034580 PMID:20474083 PMID:24033266 PMID:24439875 More... RGD:1300328 NCBI chr 5:51,536,531...51,673,583
Ensembl chr 5:51,536,526...51,691,595
JBrowse link
G ABRA actin binding Rho activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chr 4:30,712,238...30,719,495
Ensembl chr 4:30,712,238...30,721,193
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:9599005 PMID:18227065 PMID:21932095 PMID:25087612 PMID:25741868 More... NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,402...52,581,748
JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 no_association ISO DNA:insertion/deletion:intron RGD PMID:9270088 RGD:1566491 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
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 chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674
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: Left ventricular noncompaction 4 | 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, 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
RGD
ClinVar
PMID:9563954 PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 More... RGD:1559158 NCBI chr 1:136,281,119...136,286,551
Ensembl chr 1:136,281,167...136,286,547
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 chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778
JBrowse link
G ADRB1 adrenoceptor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9554809 PMID:18287209 RGD:5129132 NCBI chr14:124,400,330...124,401,739
Ensembl chr14:124,400,330...124,401,739
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:11986409 PMID:18287209 RGD:5129132 NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,033,579...150,040,731
JBrowse link
G AFF4 ALF transcription elongation factor 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 2:135,196,067...135,283,931
Ensembl chr 2:135,200,076...135,283,675
JBrowse link
G AGT angiotensinogen no_association
treatment
ISO DNA:polymorphisms: :p.T174M, p.M235T (human) RGD PMID:9270088 PMID:22120037 RGD:1566491 RGD:8549486 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
JBrowse link
G AGTR1 angiotensin II receptor type 1 treatment ISO RGD PMID:20886512 PMID:22120037 RGD:5129198 RGD:8549486 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO protein:increased expression:heart
mRNA, protein:increased expression:heart left ventricle
RGD PMID:9815151 PMID:22120037 RGD:6903900 RGD:8549486 NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388
JBrowse link
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:31418098 NCBI chr 9:71,895,615...72,054,898
Ensembl chr 9:71,895,635...72,054,897
JBrowse link
G ALDOA aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,246,036...18,260,167
Ensembl chr 3:18,253,384...18,260,163
JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447358 NCBI chr 3:69,253,742...69,417,043
Ensembl chr 3:69,253,750...69,417,189
JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28341588 PMID:28492532 PMID:30415094 More... NCBI chr 8:109,306,793...109,661,970 JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO 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 condition | 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 condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18273862 PMID:19525294 More... NCBI chr14:102,603,777...102,612,857
Ensembl chr14:102,603,777...102,612,839
JBrowse link
G ANKRD37 ankyrin repeat domain 37 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr15:46,445,789...46,450,046
Ensembl chr15:46,445,881...46,450,097
JBrowse link
G APOE apolipoprotein E susceptibility ISO RGD PMID:16714771 RGD:1601240 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
JBrowse link
G ARVCF ARVCF delta catenin family member ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,058
JBrowse link
G ASPHD1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,120,915...18,124,519 JBrowse link
G ATM ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24358288 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552
JBrowse link
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,545,064...18,568,312
Ensembl chr 3:18,545,071...18,568,310
JBrowse link
G AXIN2 axin 2 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:lung
CTD
RGD
PMID:29394407 PMID:33092439 RGD:151356921 NCBI chr12:12,311,293...12,343,207
Ensembl chr12:12,311,298...12,343,200
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 chr14:129,510,240...129,533,998
Ensembl chr14:129,466,905...129,533,987
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:23980359 PMID:26004897 RGD:10054117 RGD:13782348 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140
JBrowse link
G BCKDK branched chain keto acid dehydrogenase kinase ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:17,375,628...17,380,925
Ensembl chr 3:17,375,354...17,380,880
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO RGD PMID:26004897 RGD:13782348 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
JBrowse link
G BCL2L1 BCL2 like 1 ISO RGD PMID:26004897 RGD:13782348 NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694
JBrowse link
G BCL7C BAF chromatin remodeling complex subunit BCL7C ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:17,547,546...17,589,431
Ensembl chr 3:17,547,582...17,551,853
JBrowse link
G BOLA2B bolA family member 2B ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,345,691...18,351,508 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 chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553
JBrowse link
G C14H10orf71 chromosome 14 C10orf71 homolog ISO MouseDO NCBI chr14:89,892,435...89,918,364
Ensembl chr14:89,913,142...89,917,696
JBrowse link
G C3H16orf54 chromosome 3 C16orf54 homolog ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,011,402...18,014,281 JBrowse link
G C3H16orf92 chromosome 3 C16orf92 homolog ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,222,923...18,223,528 JBrowse link
G C3H2orf49 chromosome 3 C2orf49 homolog 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: 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 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25358972 More... NCBI chr 3:49,454,558...49,465,442
Ensembl chr 3:49,454,562...49,465,447
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:69,016,954...69,448,428
Ensembl chr 5:69,275,176...69,448,430
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 chr10:44,321,954...44,887,410
Ensembl chr10:44,421,485...44,886,425
JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 susceptibility ISO DNA:SNPs:introns: RGD PMID:29495422 RGD:13515053 NCBI chr15:402,801...455,691
Ensembl chr15:186,434...459,856
JBrowse link
G CALR3 calreticulin 3 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29988065 NCBI chr 2:61,105,307...61,136,060
Ensembl chr 2:61,105,303...61,134,961
JBrowse link
G CAP2 cyclase associated actin cytoskeleton regulatory protein 2 ISO MouseDO NCBI chr 7:13,211,110...13,350,966
Ensembl chr 7:13,211,574...13,350,961
JBrowse link
G CASP3 caspase 3 ISO RGD PMID:26004897 RGD:13782348 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213
JBrowse link
G CASP8 caspase 8 ISO RGD PMID:26004897 RGD:13782348 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468
JBrowse link
G CASP9 caspase 9 ISO RGD PMID:26004897 RGD:13782348 NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,516...74,730,007
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 4:104,918,204...104,984,019
Ensembl chr 4:104,918,501...104,983,607
JBrowse link
G CASZ1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 6:70,876,329...71,029,495
Ensembl chr 6:70,878,983...70,933,357
JBrowse link
G CAT catalase ISO RGD PMID:10652196 RGD:1581150 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CCDC110 coiled-coil domain containing 110 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr15:46,494,535...46,503,676
Ensembl chr15:46,491,805...46,546,501
JBrowse link
G CD19 CD19 molecule ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,592,785...18,601,273
Ensembl chr 3:18,592,880...18,601,263
JBrowse link
G CD27 CD27 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 5:64,197,594...64,202,236
Ensembl chr 5:64,196,994...64,202,613
JBrowse link
G CD2BP2 CD2 cytoplasmic tail binding protein 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:17,957,697...17,961,804
Ensembl chr 3:17,955,255...17,962,948
JBrowse link
G CD36 CD36 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:10981864 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:9495297 RGD:13702889 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD70 CD70 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 2:72,528,988...72,531,950
Ensembl chr 2:72,528,400...72,532,951
JBrowse link
G CDH2 cadherin 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 6:112,396,713...112,629,073
Ensembl chr 6:112,396,721...112,628,432
JBrowse link
G CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,087,497...18,095,015
Ensembl chr 3:18,084,549...18,091,798
JBrowse link
G CDK5RAP1 CDK5 regulatory subunit associated protein 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr17:36,917,276...36,946,232
Ensembl chr17:36,915,953...36,946,187
JBrowse link
G CDK8 cyclin dependent kinase 8 susceptibility ISO DNA:SNPs, haplotype:intron: (rs17083838, rs7992670) (human) RGD PMID:34815954 RGD:155260314 NCBI chr11:4,054,442...4,161,501
Ensembl chr11:4,054,442...4,161,481
JBrowse link
G CENPF centromere protein F ISO MouseDO NCBI chr 9:128,948,386...129,012,241
Ensembl chr 9:128,948,498...129,012,218
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 chr 1:43,392,630...43,564,835
Ensembl chr 1:43,392,645...43,563,695
JBrowse link
G CFAP119 cilia and flagella associated protein 119 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:17,636,154...17,640,727
Ensembl chr 3:17,636,393...17,640,726
JBrowse link
G CFAP96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr15:46,470,680...46,612,173
Ensembl chr15:46,470,765...46,490,006
JBrowse link
G CFAP97 cilia and flagella associated protein 97 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr15:46,207,781...46,257,478
Ensembl chr15:46,207,787...46,267,521
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146
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, 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: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:23408450 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr18:12,455,139...12,600,314
Ensembl chr18:12,455,145...12,600,186
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
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 chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
JBrowse link
G CORO1A coronin 1A ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,336,813...18,342,381
Ensembl chr 3:18,336,898...18,342,396
JBrowse link
G COX7A1 cytochrome c oxidase subunit 7A1 ISO MouseDO NCBI chr 6:45,519,225...45,520,721
Ensembl chr 6:45,517,229...45,520,713
JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO RGD PMID:9616213 RGD:734815 NCBI chr15:110,705,548...110,773,037
Ensembl chr15:110,705,496...110,771,728
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 9:39,638,505...39,643,530
Ensembl chr 9:39,638,506...39,643,530
JBrowse link
G CS citrate synthase ISO RGD PMID:8252591 PMID:10354207 RGD:243048472 RGD:243048483 NCBI chr 5:21,669,778...21,700,737
Ensembl chr 5:21,666,585...21,700,711
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17334414 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753
JBrowse link
G CSRNP1 cysteine and serine rich nuclear protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chr13:23,833,130...23,845,198
Ensembl chr13:23,833,134...23,845,204
JBrowse link
G CSRP3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:9039266 PMID:12507422 PMID:14567970 PMID:15781201 PMID:16352453 More... NCBI chr 2:40,219,288...40,240,614
Ensembl chr 2:40,215,353...40,240,616
JBrowse link
G CTF1 cardiotrophin 1 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: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:11058912 PMID:24033266 PMID:25741868 PMID:26084686 PMID:27149842 More... NCBI chr 3:17,539,927...17,545,250
Ensembl chr 3:17,539,941...17,544,396
JBrowse link
G CTNNA3 catenin alpha 3 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr14:69,195,231...70,974,543
Ensembl chr14:69,195,961...70,938,204
JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20376467 PMID:29394407 RGD:13524857 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311
JBrowse link
G CTSL cathepsin L ISO MouseDO NCBI chr10:27,668,523...27,674,705
Ensembl chr10:27,668,264...27,674,618
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15322218 RGD:1598502 NCBI chr  X:57,592,032...57,595,706
Ensembl chr  X:57,592,038...57,595,692
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
JBrowse link
G CYP2C49 cytochrome P450 2C49 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455
JBrowse link
G DAG1 dystroglycan 1 ISO MouseDO NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450
JBrowse link
G DCTPP1 dCTP pyrophosphatase 1 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:17,896,426...17,900,562
Ensembl chr 3:17,886,890...17,900,557
JBrowse link
G DES desmin 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 PMID:9382102 PMID:9536098 PMID:10717012 PMID:11073539 PMID:12620971 More... NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423
JBrowse link
G DGKD diacylglycerol kinase delta ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr15:133,749,349...133,867,804
Ensembl chr15:133,749,345...133,867,801
JBrowse link
G DICER1 dicer 1, ribonuclease III ISO MouseDO NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224
JBrowse link
G DMD dystrophin severity ISO mRNA, protein:decreased expression:myocardium
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: 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
RGD
ClinVar
PMID:12359139 PMID:16770791 PMID:19409785 PMID:19937601 PMID:20373002 More... RGD:6771365 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840
JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965
JBrowse link
G DOC2A double C2 domain alpha ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,211,264...18,216,096
Ensembl chr 3:18,210,965...18,216,102
JBrowse link
G DOLK dolichol kinase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 1:269,257,386...269,259,484
Ensembl chr 1:269,257,540...269,259,156
JBrowse link
G DPP6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr18:3,148,479...3,905,845
Ensembl chr18:3,148,483...4,054,118
JBrowse link
G DSC2 desmocollin 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 PMID:205460 PMID:1245073 PMID:20400443 PMID:23514727 PMID:23911551 More... NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,980,601...115,021,305
JBrowse link
G DSG2 desmoglein 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: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19569224 More... NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,243...115,454,340
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: 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: 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 PMID:3198322 PMID:9536098 PMID:10594734 PMID:11063735 PMID:12101406 More... NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623
JBrowse link
G DTNA dystrobrevin alpha ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:118,333,069...118,753,516
Ensembl chr 6:118,333,733...118,753,512
JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A severity ISO rat cDNA in mouse model RGD PMID:27056896 RGD:401959209 NCBI chr13:201,008,506...201,159,946
Ensembl chr13:201,009,480...201,159,948
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 3:71,020,143...71,237,658
Ensembl chr 3:71,020,144...71,246,967
JBrowse link
G ECE1 endothelin converting enzyme 1 ISO RGD PMID:11145756 RGD:1580911 NCBI chr 6:79,408,322...79,465,827
Ensembl chr 6:79,408,326...79,466,152
JBrowse link
G EDN1 endothelin 1 severity ISO protein:increased expression:aorta, plasma (human) RGD PMID:10026353 RGD:8661756 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:18599591 PMID:22646904 RGD:7204501 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
JBrowse link
G EGLN1 egl-9 family hypoxia inducible factor 1 ISO RGD PMID:18096761 RGD:11251770 NCBI chr14:59,113,527...59,168,421
Ensembl chr14:59,113,844...59,168,395
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 chr12:57,206,596...57,238,438
Ensembl chr12:57,206,600...57,238,444
JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO RGD
MouseDO
PMID:12072561 PMID:15685397 RGD:1580988 RGD:734939 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
JBrowse link
G ESRRB estrogen related receptor beta ISO MouseDO NCBI chr 7:99,511,135...99,699,478
Ensembl chr 7:99,514,168...99,699,011
JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:10769282 PMID:15735644 PMID:17567890 PMID:24033266 NCBI chr 1:30,260,784...30,575,593
Ensembl chr 1:30,261,917...30,533,604
JBrowse link
G FADS2 fatty acid desaturase 2 treatment ISO RGD PMID:24284026 RGD:401901245 NCBI chr 2:9,633,941...9,666,666
Ensembl chr 2:9,629,423...9,735,576
JBrowse link
G FAS Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:cardiocyte
CTD
RGD
PMID:16761189 PMID:17943461 RGD:1600334 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
JBrowse link
G FASLG Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:17943461 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
JBrowse link
G FASN fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr12:922,405...937,560
Ensembl chr12:920,509...937,561
JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:131,150,665...131,370,241
Ensembl chr 2:131,152,127...131,370,881
JBrowse link
G FBRS fibrosin ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:17,731,276...17,743,811
Ensembl chr 3:17,731,764...17,742,921
JBrowse link
G FBXL19 F-box and leucine rich repeat protein 19 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:17,497,486...17,521,759
Ensembl chr 3:17,497,488...17,521,445
JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 ISO MouseDO NCBI chr 5:41,571,054...41,636,058
Ensembl chr 5:41,570,282...41,636,028
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: 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: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:9536098 PMID:16199547 PMID:17416352 PMID:17576681 PMID:24033266 More... NCBI chr 3:49,389,900...49,448,459
Ensembl chr 3:49,363,555...49,467,527
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 chr 6:120,036,824...120,585,987
Ensembl chr 6:120,036,845...120,586,816
JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:11741828 PMID:16344347 PMID:17994539 PMID:18832576 PMID:22451200 More... NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253
JBrowse link
G FKTN fukutin 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:17597323 PMID:25741868 PMID:26633542 PMID:28492532 NCBI chr 1:246,852,387...246,916,650 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 chr12:60,475,722...60,487,376
Ensembl chr12:60,475,733...60,487,408
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, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: 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: 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, 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: 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 chr18:19,759,734...19,787,616
Ensembl chr18:19,759,740...19,787,618
JBrowse link
G FUS FUS RNA binding protein ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:17,314,936...17,326,663
Ensembl chr 3:17,314,332...17,326,637
JBrowse link
G GAA alpha glucosidase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr12:2,315,807...2,339,867
Ensembl chr12:2,314,591...2,336,988
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 chr14:14,858,470...14,938,156
Ensembl chr14:14,884,662...14,939,941
JBrowse link
G GATA5 GATA binding protein 5 ISO DNA:mutation:cds;c.719G>A(p.Gly240Asp)(human) RGD PMID:25543888 RGD:155260333 NCBI chr17:61,824,891...61,834,742
Ensembl chr17:61,824,899...61,834,267
JBrowse link
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,849...107,314,626
JBrowse link
G GBA2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 1:236,456,238...236,467,887
Ensembl chr 1:236,455,240...236,468,210
JBrowse link
G GCH1 GTP cyclohydrolase 1 ISO mRNA:decreased expression:endocardium RGD PMID:15698596 RGD:329970287 NCBI chr 1:184,201,232...184,264,060
Ensembl chr 1:184,199,679...184,257,315
JBrowse link
G GDF1 growth differentiation factor 1 ISO mRNA,protein:increased expression:heart (human) RGD PMID:24275554 RGD:11252017 NCBI chr 2:58,972,918...58,976,294
Ensembl chr 2:58,951,726...58,974,672
JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,282,574...18,291,307
Ensembl chr 3:18,282,889...18,292,092
JBrowse link
G GJA1 gap junction protein alpha 1 ISO protein:decreased expression:heart (rat) RGD PMID:12619876 PMID:26708424 RGD:1582667 RGD:264347602 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156
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 chr 6:29,416,574...29,592,874
Ensembl chr 6:29,417,603...29,592,706
JBrowse link
G GNAQ G protein subunit alpha q ISO RGD
MouseDO
PMID:9811897 RGD:1598475 NCBI chr 1:230,607,469...230,906,988
Ensembl chr 1:230,605,265...230,907,674
JBrowse link
G GNB1L G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr14:51,306,561...51,343,040
Ensembl chr14:51,305,039...51,343,029
JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr13:18,126,471...18,176,669
Ensembl chr13:18,127,088...18,176,666
JBrowse link
G GPX1 glutathione peroxidase 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :p.P198L (human)
CTD
RGD
PMID:18940188 RGD:2306616 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433
JBrowse link
G GSK3A glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28701297 NCBI chr 6:49,690,319...49,700,735
Ensembl chr 6:49,690,370...49,701,189
JBrowse link
G GSK3B glycogen synthase kinase 3 beta ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr13:140,136,109...140,370,197
Ensembl chr13:140,136,158...140,369,569
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 7:60,010,396...60,052,258
Ensembl chr 7:60,010,283...60,050,689
JBrowse link
G HDAC6 histone deacetylase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764897 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,964...42,941,887
JBrowse link
G HFE homeostatic iron regulator susceptibility ISO RGD PMID:11040018 RGD:1582687 NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000
JBrowse link
G HIRIP3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,198,809...18,201,907
Ensembl chr 3:18,198,807...18,202,089
JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive ClinVar PMID:20308327 PMID:24033266 PMID:25741868 PMID:27545675 PMID:29938792 More... NCBI chr  X:83,032,525...83,038,369
Ensembl chr  X:83,032,621...83,038,361
JBrowse link
G HOPX HOP homeobox ISO mRNA:decreased expression:left ventricle RGD PMID:12920479 RGD:401793745 NCBI chr 8:55,862,191...55,901,628 JBrowse link
G HP haptoglobin ISO protein:increased expression RGD PMID:16360363 RGD:1626345 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:17,459,627...17,463,381
Ensembl chr 3:17,459,630...17,463,386
JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:11934830 RGD:1598419 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
JBrowse link
G IL10 interleukin 10 ISO mRNA:decreased expression:heart left ventricle RGD PMID:19242323 RGD:2311057 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
JBrowse link
G IL13RA2 interleukin 13 receptor subunit alpha 2 ISO protein:increased expression:myocardium RGD PMID:18362439 RGD:2298568 NCBI chr  X:94,402,665...94,455,609
Ensembl chr  X:94,402,676...94,439,060
JBrowse link
G ILK integrin linked kinase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr 9:3,145,647...3,152,097
Ensembl chr 9:3,145,608...3,159,858
JBrowse link
G INO80E INO80 complex subunit E ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,202,092...18,212,187
Ensembl chr 3:18,202,134...18,212,186
JBrowse link
G IRF4 interferon regulatory factor 4 ISO protein:decreased expression:heart RGD PMID:23589561 RGD:11530060 NCBI chr 7:133,358...149,609
Ensembl chr 7:133,371...149,609
JBrowse link
G IRX5 iroquois homeobox 5 ISO mRNA:increased expression:heart left ventricle (human) RGD PMID:16753336 RGD:329950575 NCBI chr 6:30,511,263...30,515,015
Ensembl chr 6:30,511,894...30,514,808
JBrowse link
G ISL1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.631A>T(human) RGD PMID:30536204 RGD:243049244 NCBI chr16:30,962,994...30,974,201
Ensembl chr16:30,963,000...30,973,907
JBrowse link
G ITGAL integrin subunit alpha L ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:17,817,785...17,858,057
Ensembl chr 3:17,817,011...17,858,012
JBrowse link
G ITGB1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11884376 NCBI chr10:56,078,393...56,130,608
Ensembl chr10:56,078,396...56,173,326
JBrowse link
G ITGB1BP2 integrin subunit beta 1 binding protein 2 ISO RGD PMID:12496958 RGD:1582491 NCBI chr  X:57,316,490...57,321,614
Ensembl chr  X:57,316,471...57,325,096
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 no_association ISO RGD PMID:8567977 RGD:1556475 NCBI chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,912
JBrowse link
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:30384889 PMID:30615648 NCBI chr17:46,590,302...46,665,326 JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:19863551 PMID:20031617 PMID:20857253 PMID:21859740 PMID:23861362 More... NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210
JBrowse link
G KAT8 lysine acetyltransferase 8 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:17,362,326...17,373,110
Ensembl chr 3:17,362,267...17,373,110
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 4:108,394,687...108,621,514
Ensembl chr 4:108,246,237...108,621,510
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:30461122 PMID:35027292 NCBI chr13:198,051,281...198,059,444
Ensembl chr13:198,051,282...198,059,296
JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr13:197,979,749...197,980,974
Ensembl chr13:197,980,145...197,980,516
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 chr18:6,242,826...6,279,154
Ensembl chr18:6,243,524...6,279,111
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 9:55,836,777...55,861,288
Ensembl chr 9:55,836,701...55,864,941
JBrowse link
G KCTD13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,124,628...18,141,589
Ensembl chr 3:18,124,573...18,141,565
JBrowse link
G KIF22 kinesin family member 22 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,023,104...18,041,732
Ensembl chr 3:18,023,096...18,041,730
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO RGD PMID:15864294 RGD:1581757 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
JBrowse link
G LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:33,765,412...34,359,741
Ensembl chr 1:33,866,850...34,359,698
JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28416588 PMID:28492532 More... NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365
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:98,586,718...98,623,939
Ensembl chr  X:98,556,710...98,623,940
JBrowse link
G LAT linker for activation of T cells ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,638,992...18,644,353
Ensembl chr 3:18,639,151...18,644,348
JBrowse link
G LCK LCK proto-oncogene, Src family tyrosine kinase ISO RGD PMID:17711737 RGD:2316557 NCBI chr 6:88,719,886...88,745,922
Ensembl chr 6:88,720,176...88,745,914
JBrowse link
G LDB3 LIM domain binding 3 no_association ISO DNA:missense mutation: :p.D117N (human)
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: 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: Primary dilated cardiomyopathy
RGD
ClinVar
PMID:9536098 PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 More... RGD:11527732 NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251
JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO RGD PMID:16738313 RGD:11252001 NCBI chr 8:113,824,511...113,944,078
Ensembl chr 8:113,825,161...113,944,070
JBrowse link
G LEPR leptin receptor susceptibility ISO DNA:missense mutation:CDS:p.Q223R (human) RGD PMID:19337797 RGD:2311129 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
JBrowse link
G LMNA lamin A/C severity ISO DNA:missense mutations, deletion:cds:multiple (human)
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: 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, 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: 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
RGD
ClinVar
PMID:262236 PMID:1839274 PMID:2007407 PMID:2270059 PMID:2280636 More... RGD:1580515 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320
JBrowse link
G LMOD2 leiomodin 2 ISO MouseDO NCBI chr18:23,803,927...23,815,772
Ensembl chr18:23,803,682...23,812,479
JBrowse link
G LOC100736765 myosin-6 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: 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 PMID:15998695 PMID:20215591 PMID:20656787 PMID:21483645 PMID:22011241 More... NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644
JBrowse link
G LPL lipoprotein lipase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 PMID:32041611 PMID:33303402 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
JBrowse link
G LRP2BP LRP2 binding protein ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr15:46,383,433...46,445,688
Ensembl chr15:46,383,432...46,445,643
JBrowse link
G LRRC10 leucine rich repeat containing 10 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: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar PMID:25741868 PMID:28032242 PMID:28166811 PMID:28492532 NCBI chr 5:33,878,652...33,880,694
Ensembl chr 5:33,879,766...33,880,602
JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 treatment ISO RGD PMID:31512380 RGD:156431214 NCBI chr 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502
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 chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397
JBrowse link
G MAP2K5 mitogen-activated protein kinase kinase 5 ISO RGD PMID:11387209 RGD:1580866 NCBI chr 1:165,458,263...165,733,452
Ensembl chr 1:165,458,258...165,740,297
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 ISO protein:increased phosphorylation:heart (human) RGD PMID:27249171 RGD:155646134 NCBI chr 1:58,482,046...58,548,087
Ensembl chr 1:58,481,956...58,548,057
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor treatment ISO RGD PMID:22120037 RGD:8549486 NCBI chr 1:7,527,566...7,542,110
Ensembl chr 1:7,527,861...7,528,838
JBrowse link
G MAZ MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,043,032...18,047,531
Ensembl chr 3:18,042,007...18,047,530
JBrowse link
G MDM4 MDM4 regulator of p53 ISO MouseDO NCBI chr 9:65,175,488...65,219,747
Ensembl chr 9:65,175,377...65,219,742
JBrowse link
G MED1 mediator complex subunit 1 ISO RGD
MouseDO
PMID:27548259 RGD:13513972 NCBI chr12:22,830,405...22,872,420
Ensembl chr12:22,841,205...22,872,409
JBrowse link
G MEF2A myocyte enhancer factor 2A ISO RGD PMID:16469744 RGD:1580546 NCBI chr 1:138,398,270...138,508,639
Ensembl chr 1:138,341,158...138,511,314
JBrowse link
G MEF2C myocyte enhancer factor 2C ISO RGD PMID:16469744 RGD:1580546 NCBI chr 2:96,122,407...96,296,927
Ensembl chr 2:96,124,168...96,296,810
JBrowse link
G MFN1 mitofusin 1 ISO with Mfn2 knockout RGD PMID:22052916 RGD:11251967 NCBI chr13:117,404,637...117,441,750
Ensembl chr13:117,404,699...117,442,481
JBrowse link
G MFN2 mitofusin 2 ISO with Mfn1 knockout RGD PMID:22052916 RGD:11251967 NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438
JBrowse link
G MIR208B microRNA mir-208b ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 7:75,667,786...75,667,865
Ensembl chr 7:75,667,786...75,667,865
JBrowse link
G MMP1 matrix metallopeptidase 1 severity ISO mRNA:increased expression:myocardium (human) RGD PMID:12167381 PMID:17178334 RGD:1582541 RGD:4890382 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076
JBrowse link
G MMP13 matrix metallopeptidase 13 ISO RGD PMID:16037568 RGD:1582576 NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,008...33,561,162
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO RGD PMID:11034943 PMID:16037568 RGD:1582576 RGD:1582586 NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:11034943 PMID:16037568 RGD:1582576 RGD:1582586 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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:9,120...9,800
Ensembl chr MT:9,120...9,800
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:8,959...9,162
Ensembl chr MT:8,959...9,162
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:6,511...8,055
Ensembl chr MT:6,511...8,055
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:8,203...8,890
Ensembl chr MT:8,203...8,890
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:9,800...10,583
Ensembl chr MT:9,800...10,583
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:15,342...16,481
Ensembl chr MT:15,342...16,481
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:10,653...10,998
Ensembl chr MT:10,653...10,998
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:11,359...12,736
Ensembl chr MT:11,359...12,736
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:12,935...14,755
Ensembl chr MT:12,935...14,755
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:14,739...15,266
Ensembl chr MT:14,739...15,266
JBrowse link
G MTIF3 mitochondrial translational initiation factor 3 ISO MouseDO NCBI chr11:4,866,017...4,880,000
Ensembl chr11:4,866,023...4,879,933
JBrowse link
G MTPN myotrophin ISO RGD PMID:8508536 RGD:1581048 NCBI chr18:13,330,049...13,395,297
Ensembl chr18:13,330,029...13,395,460
JBrowse link
G MVP major vault protein ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,056,548...18,081,169
Ensembl chr 3:18,057,177...18,081,155
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: 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: 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: 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:203962 PMID:925171 PMID:1572569 PMID:2832387 PMID:7493025 More... NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104
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: 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: 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: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: 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: 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
RGD
ClinVar
PMID:737223 PMID:901918 PMID:1552912 PMID:1739523 PMID:1975599 More... RGD:1556469 NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225
JBrowse link
G MYL11 myosin light chain 11 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:17,938,129...17,941,071
Ensembl chr 3:17,938,129...17,941,268
JBrowse link
G MYL2 myosin light chain 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 PMID:18533079 PMID:20173211 PMID:21310275 PMID:22958901 PMID:23299917 More... NCBI chr14:32,205,953...32,213,848
Ensembl chr14:32,205,273...32,213,722
JBrowse link
G MYOCD myocardin IEP mRNA:increased expression:heart RGD PMID:12920479 RGD:401793745 NCBI chr12:56,931,628...57,029,258
Ensembl chr12:56,931,317...57,029,258
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:103,451,206...103,593,093
Ensembl chr 6:103,451,343...103,597,297
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: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: 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 chr14:71,283,271...71,388,591
Ensembl chr14:71,299,505...71,387,025
JBrowse link
G MYZAP myocardial zonula adherens protein ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:35840178 NCBI chr 1:114,287,622...114,386,418
Ensembl chr 1:114,287,627...114,386,427
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 5:222,784...233,491
Ensembl chr 5:221,471...233,475
JBrowse link
G NCBP1 nuclear cap binding protein subunit 1 ISO MouseDO NCBI chr 1:239,375,150...239,468,387
Ensembl chr 1:239,396,097...239,467,758
JBrowse link
G NCOA6 nuclear receptor coactivator 6 ISO MouseDO NCBI chr17:38,114,284...38,221,904
Ensembl chr17:38,114,291...38,221,901
JBrowse link
G ND4L NADH dehydrogenase subunit 4L ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:11,069...11,365
Ensembl chr MT:11,069...11,365
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: 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: 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
RGD
ClinVar
PMID:9536098 PMID:11140941 PMID:16199547 PMID:17576681 PMID:20951326 More... RGD:1581084 NCBI chr10:53,602,929...53,957,869
Ensembl chr10:53,602,936...53,958,047
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28701297 NCBI chr 1:162,364,053...162,736,515
Ensembl chr 1:162,364,057...162,513,718
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 6:135,315,000...135,382,911
Ensembl chr 6:135,318,754...135,382,882
JBrowse link
G NFATC2IP nuclear factor of activated T cells 2 interacting protein ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar PMID:28492532 NCBI chr 3:18,609,943...18,624,150
Ensembl chr 3:18,609,912...18,622,640
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 chr 7:74,918,982...74,929,688
Ensembl chr 7:74,918,984...74,929,600
JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,162
JBrowse link
G NOS2 nitric oxide synthase 2 ISO mRNA:increased expression:endocardium RGD PMID:15698596 RGD:329970287 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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 6:71,919,557...71,921,345
Ensembl chr 6:71,918,845...71,921,405
JBrowse link
G NPPB natriuretic peptide B ameliorates ISO CTD Direct Evidence: marker/mechanism|therapeutic
mRNA,protein:increased expression:heart (human)
protein:increased expression:serum
CTD
RGD
PMID:16762803 PMID:18068619 PMID:18628775 PMID:24275554 RGD:11252017 RGD:2324684 NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,930,382...71,932,254
JBrowse link
G