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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 PYGM glycogen phosphorylase, muscle associated ISO mRNA:increased expression:cardiocyte RGD PMID:14618266 RGD:1599987 NCBI chr 2:7,409,330...7,421,256
Ensembl chr 2:7,409,116...7,421,254 		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: 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: Catecholaminergic polymorphic ventricular tachycardia 1 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: Stress-induced polymorphic ventricular tachycardia 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: Stress-induced polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
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: Stress-induced polymorphic ventricular tachycardia 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 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: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy RGD
ClinVar		 PMID:12166651 PMID:15034580 PMID:20474083 PMID:24033266 PMID:25741868 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:21932095 PMID:25087612 PMID:25741868 PMID:26385305 PMID:27209629 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: ANKRD1-related dilated cardiomyopathy | 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 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: Primary dilated cardiomyopathy ClinVar PMID:23861362 PMID:25351510 PMID:25741868 PMID:28341588 PMID:28492532 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, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related 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 Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID: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 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 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 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 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 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: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25358972 More... NCBI chr 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:23677916 PMID:24033266 PMID:25184293 PMID:25741868 PMID:28492532 More... 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: Dilated Cardiomyopathy, Dominant | 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: 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 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 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 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 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: 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 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: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar 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 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: 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: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 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 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: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: 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, 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:16061754 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: Dilated Cardiomyopathy, Dominant 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 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: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:9536098 PMID:16199547 PMID:17416352 PMID:17576681 PMID:24033266 More... NCBI chr 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, Recessive | 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, 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, 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: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Cardiomyopathy, fatal infantile | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:9536098 PMID:15929027 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr18:19,759,734...19,787,616
Ensembl chr18:19,759,740...19,787,618 		JBrowse link
G GAA alpha glucosidase ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | 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 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 6:29,416,708...29,592,516 		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 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 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 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 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 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, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:20031617 PMID:20857253 PMID:21859740 PMID:23861362 PMID:24033266 More... NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210 		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 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: 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 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: 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: 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, 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, 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: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 RGD
ClinVar		 PMID:262236 PMID:1839274 PMID:2007407 PMID:2280636 PMID:2338570 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: Cardiomyopathy, Familial Idiopathic 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, 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: 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 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 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 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: Dilated Cardiomyopathy, Dominant | 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: Dilated Cardiomyopathy, Dominant | 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: Dilated Cardiomyopathy, Dominant | 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: Dilated Cardiomyopathy, Dominant | 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 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: 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 Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: 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 MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:18533079 PMID:20173211 PMID:21310275 PMID:22958901 PMID:23299917 More... NCBI 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: Dilated Cardiomyopathy, Dominant 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: 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 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 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: Dilated Cardiomyopathy, Dominant | 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: 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: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 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: 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: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 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 NR3C2 nuclear receptor subfamily 3 group C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21321305 NCBI chr 8:80,303,172...80,669,050
Ensembl chr 8:80,312,234...80,668,412 		JBrowse link
G NRAP nebulin related anchoring protein ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr14:123,928,562...124,018,462
Ensembl chr14:123,926,927...124,018,440 		JBrowse link
G NTRK3 neurotrophic receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Neonatal cardiomyopathy ClinVar PMID:25741868 NCBI chr 1:191,535,262...191,941,675
Ensembl chr 1:191,535,301...191,925,327 		JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO RGD PMID:15345656 RGD:1580779 NCBI chr 2:51,317,538...51,534,246
Ensembl chr 2:51,285,488...51,534,236 		JBrowse link
G PDCD1 programmed cell death 1 ISO RGD
MouseDO		 PMID:14595408 RGD:9589058 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478 		JBrowse link
G PDE9A phosphodiesterase 9A ISO protein:increased expression:heart RGD PMID:25799991 RGD:240550109 NCBI chr13:205,938,342...206,034,981
Ensembl chr13:205,938,348...206,034,976 		JBrowse link
G PDLIM3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: 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: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:9536098 PMID:16199547 PMID:17254821 PMID:17576681 PMID:20801532 More... NCBI chr15:46,516,178...46,546,658
Ensembl chr15:46,513,449...46,546,507 		JBrowse link
G PDLIM5 PDZ and LIM domain 5 ISO MouseDO NCBI chr 8:125,044,027...125,259,969
Ensembl chr 8:125,044,028...125,259,945 		JBrowse link
G PGF placental growth factor ISO RGD PMID:21900081 RGD:6483574 NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: 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, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:2163603 PMID:20400443 PMID:21378009 PMID:21636032 PMID:23396983 More... NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:696,355...753,859
Ensembl chr 4:689,034...753,696 		JBrowse link
G PLEKHM2 pleckstrin homology and RUN domain containing M2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 6:74,865,116...74,907,769
Ensembl chr 6:74,864,968...74,907,766 		JBrowse link
G PLN phospholamban ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:12610310 PMID:12639993 PMID:16235537 PMID:16897780 PMID:17655857 More... NCBI chr 1:43,449,354...43,458,925
Ensembl chr 1:43,449,354...43,458,925 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha treatment ISO RGD PMID:19242323 RGD:2311057 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992 		JBrowse link
G PPP1CA protein phosphatase 1 catalytic subunit alpha ISO RGD PMID:12024026 RGD:737728 NCBI chr 2:5,120,202...5,123,168
Ensembl chr 2:5,119,939...5,123,617 		JBrowse link
G PPP1R13L protein phosphatase 1 regulatory subunit 13 like ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28069640 PMID:32666529 NCBI chr 6:51,763,214...51,779,902
Ensembl chr 6:51,763,227...51,781,058 		JBrowse link
G PPP3R1 protein phosphatase 3 regulatory subunit B, alpha ISO RGD
MouseDO		 PMID:15012912 RGD:1580709 NCBI chr 3:74,004,620...74,068,173
Ensembl chr 3:74,000,517...74,068,172 		JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23768516 PMID:25741868 PMID:28492532 NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:5,475,077...5,744,761
Ensembl chr18:5,475,077...5,744,657 		JBrowse link
G PRKCA protein kinase C alpha ISO RGD PMID:9918525 RGD:1581274 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 RGD PMID:9918525 RGD:1581274 NCBI chr 3:21,995,227...22,383,628
Ensembl chr 3:21,995,231...22,383,264 		JBrowse link
G PROX1 prospero homeobox 1 ISO MouseDO NCBI chr 9:129,527,704...129,583,693
Ensembl chr 9:129,532,184...129,580,982 		JBrowse link
G PSEN1 presenilin 1 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:11389157 PMID:17186461 PMID:25741868 PMID:28492532 NCBI chr 7:96,478,179...96,567,884
Ensembl chr 7:96,478,190...96,569,130 		JBrowse link
G PSEN2 presenilin 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:20458010 PMID:21483645 PMID:22412221 PMID:24754482 PMID:28492532 More... NCBI chr10:14,532,556...14,561,862
Ensembl chr10:14,532,767...14,577,251 		JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO MouseDO NCBI chr16:25,670,832...25,686,556
Ensembl chr16:25,670,862...25,686,552 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:18759865 PMID:21934682 PMID:22923420 PMID:24033266 PMID:24803665 More... NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G RAC1 Rac family small GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16155095 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 ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:24777450 PMID:25741868 PMID:28492532 PMID:29493581 NCBI chr13:68,581,128...68,657,911
Ensembl chr13:68,580,812...68,657,829 		JBrowse link
G RANBP1 RAN binding protein 1 ISO protein:decreased expression:heart ventricle, cytoplasm (human) RGD PMID:25341891 RGD:9835001 NCBI chr14:51,494,258...51,500,420
Ensembl chr14:51,494,359...51,500,417 		JBrowse link
G RBFOX1 RNA binding fox-1 homolog 1 ISO mRNA:decreased expression:heart (human) RGD PMID:28949795 RGD:329849000 NCBI chr 3:34,938,703...37,209,772
Ensembl chr 3:34,939,573...37,300,810 		JBrowse link
G RBFOX2 RNA binding fox-1 homolog 2 ISO RGD PMID:25753418 RGD:329845877 NCBI chr 5:11,633,523...11,905,325
Ensembl chr 5:11,633,541...11,903,094 		JBrowse link
G RBM20 RNA binding motif protein 20 severity ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
DNA:missense mutations:exon 9:multiple (human)		 ClinVar
RGD		 PMID:18585512 PMID:19712804 PMID:20590677 PMID:21483645 PMID:22004663 More... RGD:11067476 NCBI chr14:121,058,896...121,269,824
Ensembl chr14:121,210,666...121,269,823 		JBrowse link
G RBM24 RNA binding motif protein 24 ISO MouseDO NCBI chr 7:13,126,518...13,139,504 JBrowse link
G RBP4 retinol binding protein 4 onset ISO protein:increased expression:blood plasma (human) RGD PMID:19926600 RGD:329845592 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765 		JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region ISO RGD PMID:10600520 RGD:1581297 NCBI chr 8:19,933,035...20,166,746
Ensembl chr 8:19,922,779...20,166,754 		JBrowse link
G RENBP renin binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12612874 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G RPL36A ribosomal protein L36a ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy ClinVar PMID:25741868 PMID:27545675 PMID:30887513 PMID:31236915 PMID:31670473 More... NCBI chr  X:83,018,305...83,022,285
Ensembl chr  X:83,018,141...83,022,283 		JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased activity:heart RGD PMID:16043946 RGD:1643022 NCBI chr12:36,111,584...36,159,287
Ensembl chr12:36,111,653...36,160,376 		JBrowse link
G RTF1 RTF1 homolog, Paf1/RNA polymerase II complex component ISO MouseDO NCBI chr 1:129,886,798...129,942,845
Ensembl chr 1:129,886,800...129,943,181 		JBrowse link
G RTL10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr14:51,338,134...51,342,383 JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:9536098 PMID:17576681 PMID:19926015 PMID:23861362 PMID:24033266 More... NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063 		JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:serum RGD PMID:18068619 RGD:2324684
G SCN2B sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant ClinVar NCBI chr 9:45,484,994...45,502,578
Ensembl chr 9:45,484,998...45,498,465 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 9:45,451,473...45,475,606 JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: 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, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:9521325 PMID:10807545 PMID:10807547 PMID:10966831 PMID:11463728 More... NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:10545952 PMID:15210538 PMID:19879173 PMID:20159436 PMID:25741868 More... NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,307 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:79,838,442...79,862,956
Ensembl chr16:79,834,044...79,862,524 		JBrowse link
G SGCB sarcoglycan beta ISO ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:12566530 PMID:15938573 PMID:25135358 PMID:25741868 PMID:25862795 More... NCBI chr 8:39,130,371...39,148,756
Ensembl chr 8:39,127,545...39,148,814 		JBrowse link
G SGCD sarcoglycan delta ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25637381 PMID:25741868 PMID:26720722 More... NCBI chr16:66,447,982...67,481,709
Ensembl chr16:66,452,178...66,887,924 		JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:2,310,280...2,380,054 JBrowse link
G SHBG sex hormone binding globulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25996886 NCBI chr12:52,914,711...52,919,092 JBrowse link
G SIK1 salt inducible kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16243910 NCBI chr13:206,454,695...206,465,802
Ensembl chr13:206,454,718...206,465,807 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic		 ClinVar PMID:20074989 PMID:23520115 PMID:25741868 PMID:28492532 NCBI chr 2:134,660,741...134,847,575
Ensembl chr 2:134,660,808...134,686,219 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987 		JBrowse link
G SLC8A1 solute carrier family 8 member A1 ISO RGD PMID:23436819 RGD:10053661 NCBI chr 3:99,823,503...100,257,306
Ensembl chr 3:99,897,162...100,244,759 		JBrowse link
G SNX25 sorting nexin 25 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr15:46,306,967...46,388,404
Ensembl chr15:46,266,762...46,388,324 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD
MouseDO
RGD		 PMID:10425186 PMID:11677043 PMID:16155095 PMID:21195081 RGD:1580837 RGD:1581260 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 More... NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,209,641...101,362,723 		JBrowse link
G SP4 Sp4 transcription factor ISO RGD PMID:15972724 RGD:1581308 NCBI chr 9:90,337,355...90,410,529
Ensembl chr 9:90,337,449...90,410,268 		JBrowse link
G SRF serum response factor ISO RGD
MouseDO		 PMID:16260633 RGD:1580754 NCBI chr 7:38,213,300...38,223,686
Ensembl chr 7:38,213,487...38,222,144 		JBrowse link
G STK38 serine/threonine kinase 38 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr 7:32,206,532...32,253,673
Ensembl chr 7:32,206,541...32,253,624 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr 1:193,909,563...194,352,550
Ensembl chr 1:193,911,965...194,264,354 		JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28386937 PMID:28492532 PMID:31250519 PMID:34906501 NCBI chr 1:16,533,364...16,611,879
Ensembl chr 1:16,533,285...16,611,884 		JBrowse link
G TAF10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar NCBI chr 9:3,144,262...3,145,702
Ensembl chr 9:3,144,277...3,145,720 		JBrowse link
G TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr10:11,340,637...11,362,432
Ensembl chr10:11,340,642...11,362,432 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:4685904 PMID:9382096 PMID:11896212 PMID:12468278 PMID:19438153 More... NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725 		JBrowse link
G TBX20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29089047 PMID:31333075 PMID:31568572 NCBI chr18:38,635,603...38,681,690
Ensembl chr18:38,635,617...38,678,133 		JBrowse link
G TBX5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:16183809 PMID:16917909 PMID:17534187 PMID:25741868 PMID:28492532 NCBI chr14:37,772,205...37,826,015
Ensembl chr14:37,774,171...37,825,401 		JBrowse link
G TCAP titin-cap ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:10655062 PMID:23479141 PMID:24037902 PMID:25298746 PMID:25741868 More... NCBI chr12:22,651,666...22,652,904
Ensembl chr12:22,651,664...22,653,722 		JBrowse link
G TCF7L2 transcription factor 7 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr14:123,343,695...123,547,332
Ensembl chr14:123,343,412...123,546,417 		JBrowse link
G TFAP2A transcription factor AP-2 alpha ISO protein:increased expression:myocardium RGD PMID:14752511 RGD:1578494 NCBI chr 7:7,221,654...7,244,626
Ensembl chr 7:7,221,656...7,244,612 		JBrowse link
G TGFB3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,879...99,162,232 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO MouseDO NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581 		JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:18313022 PMID:19467449 PMID:20010364 PMID:21214875 PMID:22458570 More... NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168 		JBrowse link
G TMPO thymopoietin ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 More... NCBI chr 5:85,317,648...85,346,528
Ensembl chr 5:85,315,290...85,346,538 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:plasma: RGD PMID:14984724 RGD:7401238 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 6:63,523,850...63,526,672
Ensembl chr 6:63,523,804...63,526,666 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 6:72,103,309...72,174,882 JBrowse link
G TNFRSF9 TNF receptor superfamily member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 6:68,590,562...68,609,784
Ensembl chr 6:68,590,360...68,609,695 		JBrowse link
G TNFSF4 TNF superfamily member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 9:115,535,185...115,857,457
Ensembl chr 9:115,550,569...115,659,263 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073 		JBrowse link
G TNFSF9 TNF superfamily member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031769 NCBI chr 2:72,578,811...72,582,834
Ensembl chr 2:72,578,821...72,582,745 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:20215591 PMID:21832052 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr13:34,591,571...34,594,320
Ensembl chr13:34,591,386...34,594,337 		JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar 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: 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 | 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:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10806205 More... NCBI chr 6:59,366,828...59,377,490
Ensembl chr 6:59,371,080...59,377,734
Ensembl chr 6:59,371,080...59,377,734 		JBrowse link
G TNNI3K TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:138,634,770...138,914,194
Ensembl chr 6:138,634,274...138,914,115 		JBrowse link
G TNNT1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:59,351,445...59,365,584
Ensembl chr 6:59,347,582...59,365,284 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar 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: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:181617 PMID:209243 PMID:936231 PMID:2025668 PMID:7898523 More... NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396 		JBrowse link
G TP53 tumor protein p53 ISO RGD PMID:26004897 RGD:13782348 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G TPM1 tropomyosin 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: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy		 ClinVar PMID:11106625 PMID:18533079 PMID:20117437 PMID:20159828 PMID:20215591 More... NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,986...109,020,035 		JBrowse link
G TRDN triadin ISO protein:decreased expression:heart RGD PMID:17400717 RGD:7327229 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: Primary dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:17033963 PMID:20435138 PMID:21741925 PMID:22277967 PMID:25037205 More... NCBI chr 5:23,073,087...23,087,029
Ensembl chr 5:23,072,808...23,097,915 		JBrowse link
G TTN titin 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: 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: 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: 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, 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 PMID:9536098 PMID:10051295 PMID:11788824 PMID:12145747 PMID:15802564 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
G TUBB tubulin beta class I ISO CTD Direct Evidence: marker/mechanism CTD PMID:16155095 NCBI chr 7:23,247,827...23,252,240
Ensembl chr 7:23,247,850...23,252,233 		JBrowse link
G TXN thioredoxin ISO RGD PMID:12870673 RGD:1580782 NCBI chr 1:251,264,180...251,278,000
Ensembl chr 1:251,263,175...251,277,988 		JBrowse link
G TXNRD2 thioredoxin reductase 2 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 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21247928 PMID:24601690 More... NCBI chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262 		JBrowse link
G UBE2I ubiquitin conjugating enzyme E2 I ISO mRNA:increased expression:left ventricle RGD PMID:23360823 RGD:13831294 NCBI chr 3:40,556,556...40,586,382 JBrowse link
G UCN urocortin ISO protein:increased expression:heart left ventricle RGD PMID:11087261 PMID:14577573 RGD:1580792 RGD:1642796 NCBI chr 3:111,834,082...111,835,932
Ensembl chr 3:111,835,125...111,835,508 		JBrowse link
G UCP1 uncoupling protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr 8:86,522,028...86,526,162 JBrowse link
G UFSP2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar PMID:28492532 NCBI chr15:46,448,918...46,470,616
Ensembl chr15:46,448,904...46,470,572 		JBrowse link
G VCL vinculin 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: 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:11815424 PMID:16949038 PMID:17785437 PMID:20474083 PMID:23396983 More... NCBI chr14:76,700,143...76,811,875
Ensembl chr14:76,700,173...76,811,869 		JBrowse link
G WDR12 WD repeat domain 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25915632 NCBI chr15:106,380,748...106,410,723
Ensembl chr15:106,380,755...106,410,416 		JBrowse link
G YME1L1 YME1 like 1 ATPase ISO MouseDO NCBI chr10:48,807,654...48,855,228 JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO protein:increased expression:heart: RGD PMID:18658259 PMID:25196150 RGD:155882481 RGD:155882484 NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,773...32,094,287 		JBrowse link
dilated cardiomyopathy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:24439875 PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr 5:51,536,531...51,673,583
Ensembl chr 5:51,536,526...51,691,595 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 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 1A ClinVar PMID:25741868 NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... NCBI chr14:102,603,777...102,612,857
Ensembl chr14:102,603,777...102,612,839 		JBrowse link
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:21353195 PMID:24033266 PMID:25741868 PMID:28436997 PMID:28492532 More... NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,466,905...129,533,987 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28074886 PMID:28492532 PMID:30847666 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 PMID:34103343 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G DOT1L DOT1 like histone lysine methyltransferase ISO OMIM:115200 MouseDO NCBI chr 2:76,339,452...76,401,974
Ensembl chr 2:76,339,470...76,401,965 		JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:16199547 PMID:23911551 PMID:24033266 PMID:25741868 PMID:28153106 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: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 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: Dilated cardiomyopathy 1A ClinVar PMID:20716751 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24125834 More... NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:26676105 NCBI chr14:16,460,089...16,462,979
Ensembl chr14:16,459,971...16,462,207 		JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:19377068 More... NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation OMIM
ClinVar		 PMID:262236 PMID:2007407 PMID:2270059 PMID:2338570 PMID:2526018 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28082330 PMID:28492532 PMID:33500567 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: Dilated cardiomyopathy 1A 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 MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:11499718 PMID:11815426 PMID:12110947 PMID:12707239 PMID:12818575 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 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30105547 PMID:34816733 NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:71,283,271...71,388,591
Ensembl chr14:71,299,505...71,387,025 		JBrowse link
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:135,315,000...135,382,911
Ensembl chr 6:135,318,754...135,382,882 		JBrowse link
G NFATC2 nuclear factor of activated T cells 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chr17:52,743,570...52,907,373
Ensembl chr17:52,743,568...52,906,821 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
G RAPGEF5 Rap guanine nucleotide exchange factor 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chr 9:90,958,078...91,232,256
Ensembl chr 9:90,958,078...91,578,992 		JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:19712804 PMID:20590677 PMID:22004663 PMID:22466703 PMID:24033266 More... NCBI chr14:121,058,896...121,269,824
Ensembl chr14:121,210,666...121,269,823 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:16712702 PMID:18508782 PMID:19716085 PMID:22581653 PMID:23631430 More... NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755 		JBrowse link
G SEMA3E semaphorin 3E ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chr 9:96,682,178...96,941,074
Ensembl chr 9:96,682,246...96,941,072 		JBrowse link
G SGCD sarcoglycan delta ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25637381 PMID:25741868 NCBI chr16:66,447,982...67,481,709
Ensembl chr16:66,452,178...66,887,924 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:20074989 PMID:23520115 PMID:25741868 PMID:28492532 NCBI chr 2:134,660,741...134,847,575
Ensembl chr 2:134,660,808...134,686,219 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chr 1:13,715,644...14,201,711 JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:28492532 NCBI chr 6:59,366,828...59,377,490
Ensembl chr 6:59,371,080...59,377,734
Ensembl chr 6:59,371,080...59,377,734 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation ClinVar PMID:9536098 PMID:17576681 PMID:21520333 PMID:22335739 PMID:23418287 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
G UNC45B unc-45 myosin chaperone B ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chr12:39,997,254...40,031,368
Ensembl chr12:39,994,194...40,030,966 		JBrowse link
dilated cardiomyopathy 1AA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction | ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA OMIM
ClinVar		 PMID:9536098 PMID:14567970 PMID:16199547 PMID:17097056 PMID:17576681 More... NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778 		JBrowse link
G MT1D metallothionein-1E ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA 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: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763 		JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063 		JBrowse link
dilated cardiomyopathy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28074886 PMID:28492532 NCBI chr 5:51,536,531...51,673,583
Ensembl chr 5:51,536,526...51,691,595 		JBrowse link
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778 		JBrowse link
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:14732481 PMID:20981092 PMID:21408211 PMID:24033266 PMID:25741868 More... NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200 		JBrowse link
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:9536098 PMID:17576681 PMID:21459883 PMID:24033266 PMID:24558114 More... NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,466,905...129,533,987 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:10717012 PMID:11073539 PMID:12620971 PMID:14724127 PMID:19587455 More... NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:7599634 PMID:7849724 PMID:11710958 PMID:19760747 PMID:24033266 More... NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 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: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:18639457 PMID:20031616 PMID:24033266 PMID:25741868 PMID:28492532 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: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15941723 PMID:20152563 PMID:20716751 PMID:21606396 PMID:21636032 More... NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G FKTN fukutin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 PMID:32969603 PMID:33048919 PMID:34120883 More... NCBI chr 1:246,852,387...246,916,650 JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:27908349 PMID:28492532 PMID:32112656 PMID:33874732 NCBI chr18:19,759,734...19,787,616
Ensembl chr18:19,759,740...19,787,618 		JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210 		JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15668942 PMID:20474083 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:11897440 PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15998695 PMID:20215591 PMID:21483645 PMID:23299917 PMID:23861362 More... NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:2073894 PMID:9048664 PMID:9536098 PMID:9631872 PMID:10521296 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 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:12951062 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:22286171 PMID:23299917 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:71,283,271...71,388,591
Ensembl chr14:71,299,505...71,387,025 		JBrowse link
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 PMID:32058062 PMID:32814711 PMID:32870709 More... NCBI chr 6:135,315,000...135,382,911
Ensembl chr 6:135,318,754...135,382,882 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:22558107 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr13:68,581,128...68,657,911
Ensembl chr13:68,580,812...68,657,829 		JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:19712804 PMID:20590677 PMID:21483645 PMID:22004663 PMID:23861363 More... NCBI chr14:121,058,896...121,269,824
Ensembl chr14:121,210,666...121,269,823 		JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:26132555 PMID:28492532 PMID:36082968 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: CARDIOMYOPATHY, FAMILIAL DILATED, 1 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:9521325 PMID:11901046 PMID:12106943 PMID:14523039 PMID:15671429 More... NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755 		JBrowse link
G SGCD sarcoglycan delta ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 NCBI chr16:66,447,982...67,481,709
Ensembl chr16:66,452,178...66,887,924 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TAX1BP3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25645515 PMID:25741868 PMID:32576985 NCBI chr12:49,754,162...49,759,026
Ensembl chr12:49,754,166...49,759,412 		JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:9241277 PMID:11735257 PMID:18006163 PMID:18467357 PMID:18533079 More... NCBI chr 6:59,366,828...59,377,490
Ensembl chr 6:59,371,080...59,377,734
Ensembl chr 6:59,371,080...59,377,734 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15542288 PMID:16199547 PMID:19412328 PMID:20031601 PMID:20215591 More... NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:12145747 PMID:17444505 PMID:18948003 PMID:21520333 PMID:22335739 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
G VCL vinculin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15769782 PMID:16236538 PMID:16712796 PMID:17785437 PMID:23299917 More... NCBI chr14:76,700,143...76,811,875
Ensembl chr14:76,700,173...76,811,869 		JBrowse link
dilated cardiomyopathy 1BB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: DSG2-related condition | ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB | ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy OMIM
ClinVar		 PMID:2040044 PMID:9536098 PMID:12586364 PMID:16025435 PMID:16199547 More... NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,243...115,454,340 		JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy ClinVar PMID:19377068 PMID:23396983 PMID:24033266 PMID:25351510 PMID:25741868 More... NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
G LMOD2 leiomodin 2 ISO ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy ClinVar PMID:35082396 NCBI chr18:23,803,927...23,815,772
Ensembl chr18:23,803,682...23,812,479 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy ClinVar PMID:11684629 PMID:12923187 PMID:14654368 PMID:15623536 PMID:15769782 More... NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396 		JBrowse link
dilated cardiomyopathy 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Dilated cardiomyopathy 1C | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 24 | ClinVar Annotator: match by term: LDB3-related condition | ClinVar Annotator: match by term: Left ventricular noncompaction 3 OMIM
ClinVar		 PMID:4855680 PMID:9536098 PMID:11696561 PMID:14660611 PMID:14662268 More... NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
dilated cardiomyopathy 1CC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:19881492 More... NCBI chr 6:135,315,000...135,382,911
Ensembl chr 6:135,318,754...135,382,882 		JBrowse link
dilated cardiomyopathy 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1D | ClinVar Annotator: match by term: Left ventricular noncompaction 6 OMIM
ClinVar		 PMID:181617 PMID:209243 PMID:209262 PMID:541918 PMID:936231 More... NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396 		JBrowse link
dilated cardiomyopathy 1DD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BBIP1 BBSome interacting protein 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD ClinVar PMID:28492532 NCBI chr14:121,327,357...121,348,671
Ensembl chr14:121,334,760...121,348,543 		JBrowse link
G PDCD4 programmed cell death 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD ClinVar PMID:28492532 NCBI chr14:121,271,824...121,334,767
Ensembl chr14:121,305,629...121,338,740 		JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD | ClinVar Annotator: match by term: RBM20-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16783378 PMID:17576681 PMID:18585512 More... NCBI chr14:121,058,896...121,269,824
Ensembl chr14:121,210,666...121,269,823 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD ClinVar PMID:28492532 NCBI chr14:121,347,938...121,444,144
Ensembl chr14:121,349,059...121,444,136 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD ClinVar PMID:2025668 PMID:15358028 PMID:16199547 PMID:19754353 PMID:24033266 More... NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396 		JBrowse link
dilated cardiomyopathy 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2 | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1E ClinVar
OMIM		 PMID:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2107088 More... NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755 		JBrowse link
dilated cardiomyopathy 1EE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1EE OMIM
ClinVar		 PMID:9536098 PMID:11815426 PMID:15998695 PMID:16199547 PMID:17576681 More... NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644 		JBrowse link
dilated cardiomyopathy 1FF term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLF5 KLF transcription factor 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1FF ClinVar NCBI chr11:45,370,009...45,386,673
Ensembl chr11:45,369,810...45,388,314 		JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1FF OMIM
ClinVar		 PMID:3144325 PMID:3349559 PMID:9241277 PMID:10806205 PMID:11735257 More... NCBI chr 6:59,366,828...59,377,490
Ensembl chr 6:59,371,080...59,377,734
Ensembl chr 6:59,371,080...59,377,734 		JBrowse link
dilated cardiomyopathy 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr 7:39,301,020...39,314,296
Ensembl chr 7:39,301,009...39,313,860 		JBrowse link
G CCDC141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:28492532 PMID:30557390 NCBI chr15:84,534,725...84,745,296
Ensembl chr15:84,535,922...84,734,182 		JBrowse link
G FKBP7 FKBP prolyl isomerase 7 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:28492532 More... NCBI chr15:84,168,483...84,182,870
Ensembl chr15:84,168,587...84,182,860 		JBrowse link
G PJVK pejvakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:28492532 More... NCBI chr15:84,157,864...84,165,763
Ensembl chr15:84,158,639...84,165,906 		JBrowse link
G PLEKHA3 pleckstrin homology domain containing A3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:21681106 PMID:22335739 PMID:23975875 PMID:24395473 More... NCBI chr15:84,185,007...84,206,887
Ensembl chr15:84,184,998...84,212,119 		JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr 7:38,511,521...38,531,938
Ensembl chr 7:38,507,073...38,537,943 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:28492532 More... NCBI chr15:84,134,273...84,156,596
Ensembl chr15:84,133,687...84,156,508 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G OMIM
ClinVar		 PMID:1745277 PMID:4315225 PMID:9536098 PMID:9804419 PMID:10051295 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
dilated cardiomyopathy 1GG term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG OMIM
ClinVar		 PMID:1492653 PMID:7550341 PMID:9536098 PMID:10721988 PMID:10746566 More... NCBI chr16:79,838,442...79,862,956
Ensembl chr16:79,834,044...79,862,524 		JBrowse link
dilated cardiomyopathy 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRB3 adrenoceptor beta 3 susceptibility ISO DNA:missense mutation, haplotype:cds:p.W64R rs4994 (human) RGD PMID:20123316 RGD:5684357 NCBI chr15:48,468,803...48,478,370
Ensembl chr15:48,475,144...48,479,562 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO mRNA:increased expression:left ventricle: RGD PMID:19332114 RGD:10053590 NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,520...106,708,317 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... NCBI chr14:102,603,777...102,612,857
Ensembl chr14:102,603,777...102,612,839 		JBrowse link
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:21353195 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28669108 NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,466,905...129,533,987 		JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 treatment ISO DNA:SNP:promoter:-344C>T (human) RGD PMID:12031704 RGD:1576426 NCBI chr 4:1,365,725...1,373,138 JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:25741868 PMID:28074886 PMID:28492532 PMID:30847666 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:25741868 PMID:28492532 PMID:34103343 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:20716751 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24125834 More... NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:19377068 More... NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:262236 PMID:2007407 PMID:2338570 PMID:2526018 PMID:2733290 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:24033266 PMID:25741868 PMID:28082330 PMID:28492532 PMID:33500567 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: Dilated cardiomyopathy with conduction defect 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 MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:11499718 PMID:11815426 PMID:12110947 PMID:12707239 PMID:12818575 More... NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104 		JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:71,283,271...71,388,591
Ensembl chr14:71,299,505...71,387,025 		JBrowse link
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:135,315,000...135,382,911
Ensembl chr 6:135,318,754...135,382,882 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:19712804 PMID:20590677 PMID:22004663 PMID:22466703 PMID:24033266 More... NCBI chr14:121,058,896...121,269,824
Ensembl chr14:121,210,666...121,269,823 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:16712702 PMID:18508782 PMID:19716085 PMID:22581653 PMID:23631430 More... NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:20074989 PMID:23520115 PMID:25741868 PMID:28492532 NCBI chr 2:134,660,741...134,847,575
Ensembl chr 2:134,660,808...134,686,219 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO RGD PMID:12056860 RGD:9681470 NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987 		JBrowse link
G TNF tumor necrosis factor severity ISO RGD PMID:14676433 RGD:7401234 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:28492532 NCBI chr 6:59,366,828...59,377,490
Ensembl chr 6:59,371,080...59,377,734
Ensembl chr 6:59,371,080...59,377,734 		JBrowse link
G TRPC5 transient receptor potential cation channel subfamily C member 5 ISO mRNA,protein:increased expression:heart: RGD PMID:16950785 RGD:10044019 NCBI chr  X:91,716,334...91,988,364
Ensembl chr  X:91,721,644...91,988,120 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:21520333 PMID:22335739 PMID:23418287 PMID:23975875 PMID:24033266 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
dilated cardiomyopathy 1HH term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1HH OMIM
ClinVar		 PMID:2159883 PMID:9536098 PMID:17576681 PMID:19085932 PMID:20301672 More... NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,466,905...129,533,987 		JBrowse link
dilated cardiomyopathy 1I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DES desmin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1I OMIM
ClinVar		 PMID:9536098 PMID:9697706 PMID:10430757 PMID:10717012 PMID:10905661 More... NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1I ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:16199542 PMID:16715312 More... NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1I ClinVar NCBI chr15:121,443,976...121,501,453 JBrowse link
dilated cardiomyopathy 1II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9H11orf52 chromosome 9 C11orf52 homolog ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 9:39,646,890...39,655,229
Ensembl chr 9:39,647,797...39,655,223 		JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II OMIM
ClinVar		 PMID:1560021 PMID:2299599 PMID:9536098 PMID:11013455 PMID:14681890 More... NCBI chr 9:39,638,505...39,643,530
Ensembl chr 9:39,638,506...39,643,530 		JBrowse link
G DIXDC1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 9:39,666,454...39,734,909 JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 9:39,738,639...39,763,813
Ensembl chr 9:39,738,564...39,796,806 		JBrowse link
G NKAPD1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 9:39,775,579...39,787,962
Ensembl chr 9:39,775,676...39,787,969 		JBrowse link
G PIH1D2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 9:39,767,708...39,775,477
Ensembl chr 9:39,765,305...39,775,401 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 9:39,790,654...39,803,602
Ensembl chr 9:39,790,595...39,803,950 		JBrowse link
G TIMM8B translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 9:39,788,164...39,790,563
Ensembl chr 9:39,787,405...39,790,718 		JBrowse link
dilated cardiomyopathy 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYA4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Dilated cardiomyopathy 1J OMIM
ClinVar		 PMID:9536098 PMID:10769282 PMID:11159937 PMID:15735644 PMID:16199547 More... NCBI chr 1:30,260,784...30,575,593
Ensembl chr 1:30,261,917...30,533,604 		JBrowse link
dilated cardiomyopathy 1JJ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ | ClinVar Annotator: match by term: LAMA4-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16204254 PMID:17576681 PMID:17646580 More... NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365 		JBrowse link
dilated cardiomyopathy 1KK term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYPN myopalladin ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 4 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 22 | ClinVar Annotator: match by term: MYPN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18006477 PMID:20801532 More... NCBI chr14:71,283,271...71,388,591
Ensembl chr14:71,299,505...71,387,025 		JBrowse link
dilated cardiomyopathy 1L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SGCD sarcoglycan delta ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1L OMIM
ClinVar		 PMID:8841194 PMID:9536098 PMID:10735275 PMID:10838250 PMID:10974018 More... NCBI chr16:66,447,982...67,481,709
Ensembl chr16:66,452,178...66,887,924 		JBrowse link
dilated cardiomyopathy 1LL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,579,291...63,593,429
Ensembl chr 6:63,579,304...63,593,435 		JBrowse link
G ACTRT2 actin related protein T2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,664,484...64,665,774
Ensembl chr 6:64,664,641...64,665,774 		JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,366,017...63,398,311
Ensembl chr 6:63,365,983...63,398,309 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,678,757...63,686,409 JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,656,120...63,657,568
Ensembl chr 6:63,656,119...63,657,472 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112 		JBrowse link
G C1QTNF12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,548,862...63,555,991
Ensembl chr 6:63,548,864...63,553,332 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,970,359...63,971,973 JBrowse link
G CCNL2 cyclin L2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,659,053...63,668,077
Ensembl chr 6:63,659,054...63,668,047 		JBrowse link
G CDK11 cyclin dependent kinase 11 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,804,914...63,819,960 JBrowse link
G CFAP74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,976,011...64,038,899
Ensembl chr 6:63,976,346...64,024,562 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,607,991...63,612,325 JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,628,913 		JBrowse link
G FAAP20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,160,760...64,169,663 JBrowse link
G FNDC10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,762,059...63,765,483
Ensembl chr 6:63,764,815...63,765,483 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,049,665...64,059,644
Ensembl chr 6:64,049,675...64,059,640 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,158...63,952,505 		JBrowse link
G HES5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,409,110...64,410,541
Ensembl chr 6:64,408,956...64,410,881 		JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,596,809...63,607,915
Ensembl chr 6:63,596,803...63,607,921 		JBrowse link
G LOC100525876 ATPase family AAA domain-containing protein 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,706,155...63,721,574
Ensembl chr 6:63,701,460...63,721,573 		JBrowse link
G LOC100624218 MORN repeat-containing protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,266,184...64,300,980
Ensembl chr 6:64,253,268...64,300,897 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,787,200...63,800,425
Ensembl chr 6:63,787,201...63,800,423 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,436,778...64,470,888
Ensembl chr 6:64,436,642...64,472,759 		JBrowse link
G MMP23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,801,668...63,804,275
Ensembl chr 6:63,801,965...63,805,046 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,670,750...63,675,834
Ensembl chr 6:63,670,755...63,675,839 		JBrowse link
G MXRA8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,630,936...63,635,623
Ensembl chr 6:63,630,938...63,635,456 		JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,846,650...63,864,137
Ensembl chr 6:63,846,655...63,863,946 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,393,092...64,407,443
Ensembl chr 6:64,393,102...64,407,448 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,311,743...64,317,693 JBrowse link
G PLCH2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,325,918...64,392,070
Ensembl chr 6:64,325,952...64,392,068 		JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1LL | ClinVar Annotator: match by term: Left ventricular noncompaction 8 | ClinVar Annotator: match by term: PRDM16-related condition | ClinVar Annotator: match by term: PRDM16-related congenital heart disease OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23768516 PMID:24033266 More... NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570 		JBrowse link
G PRKCZ protein kinase C zeta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,073,343...64,159,187
Ensembl chr 6:64,068,577...64,163,472 		JBrowse link
G PRXL2B peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,432,187...64,435,328
Ensembl chr 6:64,432,148...64,435,320 		JBrowse link
G PUSL1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,593,539...63,596,921
Ensembl chr 6:63,593,959...63,599,019 		JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,301,139...64,311,526
Ensembl chr 6:64,301,199...64,311,783 		JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,413,080...63,445,277
Ensembl chr 6:63,413,086...63,414,357 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,568,171...63,578,623 JBrowse link
G SDF4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,529,853...63,539,979
Ensembl chr 6:63,529,853...63,544,944 		JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,188,265...64,242,596
Ensembl chr 6:64,188,236...64,242,560 		JBrowse link
G SLC35E2 solute carrier family 35 member E2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,820,804...63,842,400
Ensembl chr 6:63,820,812...63,835,561 		JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,728,318...63,757,460
Ensembl chr 6:63,728,325...63,755,163 		JBrowse link
G TAS1R3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,613,536...63,617,831
Ensembl chr 6:63,607,990...63,617,809 		JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,721,655...63,727,457
Ensembl chr 6:63,721,656...63,727,526 		JBrowse link
G TMEM52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,969,438...63,974,312
Ensembl chr 6:63,969,440...63,974,286 		JBrowse link
G TMEM88B transmembrane protein 88B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,686,542...63,689,298
Ensembl chr 6:63,686,546...63,688,456 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,523,850...63,526,672
Ensembl chr 6:63,523,804...63,526,666 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,478,117...64,499,034
Ensembl chr 6:64,478,408...64,499,986 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,494,759...63,513,884
Ensembl chr 6:63,497,597...63,511,918 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,556,134...63,568,080
Ensembl chr 6:63,555,488...63,568,017 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,695,195...63,700,296
Ensembl chr 6:63,694,979...63,700,287 		JBrowse link
dilated cardiomyopathy 1M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSRP3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1M OMIM
ClinVar		 PMID:8994428 PMID:9039266 PMID:12507422 PMID:12642359 PMID:14567970 More... NCBI chr 2:40,219,288...40,240,614
Ensembl chr 2:40,215,353...40,240,616 		JBrowse link
dilated cardiomyopathy 1MM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10 OMIM
ClinVar		 PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:950554 More... NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104 		JBrowse link
dilated cardiomyopathy 1NN term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1NN OMIM
ClinVar		 PMID:1760348 PMID:10064593 PMID:17603482 PMID:17603483 PMID:17603485 More... NCBI chr13:68,581,128...68,657,911
Ensembl chr13:68,580,812...68,657,829 		JBrowse link
dilated cardiomyopathy 1O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1O OMIM
ClinVar		 PMID:1575858 PMID:9536098 PMID:12166651 PMID:15034580 PMID:16199547 More... NCBI chr 5:51,536,531...51,673,583
Ensembl chr 5:51,536,526...51,691,595 		JBrowse link
G GOLT1B golgi transport 1B ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 5:51,939,480...51,953,314
Ensembl chr 5:51,939,485...51,953,315 		JBrowse link
G GYS2 glycogen synthase 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 5:51,862,952...51,915,153
Ensembl chr 5:51,862,863...51,917,757 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 5:51,695,927...51,704,402
Ensembl chr 5:51,696,188...51,703,813 		JBrowse link
G LDHB lactate dehydrogenase B ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 5:51,810,932...51,831,218 JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 5:51,994,793...52,020,844
Ensembl chr 5:51,993,717...52,020,809 		JBrowse link
G RECQL RecQ like helicase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 5:51,953,460...51,995,619
Ensembl chr 5:51,953,451...52,003,740 		JBrowse link
G SPX spexin hormone ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 5:51,919,474...51,929,204
Ensembl chr 5:51,920,400...51,941,598 		JBrowse link
Dilated Cardiomyopathy 1OO term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VEZF1 vascular endothelial zinc finger 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1OO ClinVar
OMIM		 PMID:36657711 NCBI chr12:34,245,886...34,263,806
Ensembl chr12:34,245,884...34,263,538 		JBrowse link
dilated cardiomyopathy 1P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1P ClinVar PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16829191 More... NCBI chr 1:43,392,630...43,564,835
Ensembl chr 1:43,392,645...43,563,695 		JBrowse link
G PLN phospholamban ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1P OMIM
ClinVar		 PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16829191 More... NCBI chr 1:43,449,354...43,458,925
Ensembl chr 1:43,449,354...43,458,925 		JBrowse link
dilated cardiomyopathy 1R term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1R OMIM
ClinVar		 PMID:676951 PMID:2255271 PMID:9536098 PMID:9563954 PMID:10494087 More... NCBI chr 1:136,281,119...136,286,551
Ensembl chr 1:136,281,167...136,286,547 		JBrowse link
dilated cardiomyopathy 1S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DES desmin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:29253866 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,980,601...115,021,305 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 PMID:28492532 PMID:29253866 PMID:32826072 NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar 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: Dilated cardiomyopathy 1S ClinVar PMID:11897440 PMID:15219508 PMID:15539782 PMID:16061563 PMID:16537768 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Biventricular noncompaction cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy 1S | ClinVar Annotator: match by term: Left ventricular noncompaction 5 OMIM
ClinVar		 PMID:564455 PMID:737223 PMID:901918 PMID:1218377 PMID:1423936 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S 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 NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S 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 PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:19712804 PMID:20590677 PMID:22004663 PMID:22466703 PMID:24033266 More... NCBI chr14:121,058,896...121,269,824
Ensembl chr14:121,210,666...121,269,823 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:18572189 PMID:19439414 PMID:20215591 PMID:20459070 PMID:21056975 More... NCBI chr13:34,591,571...34,594,320
Ensembl chr13:34,591,386...34,594,337 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 PMID:25589632 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
G VCL vinculin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:24033266 PMID:24062880 PMID:24503780 PMID:25741868 PMID:27532257 More... NCBI chr14:76,700,143...76,811,875
Ensembl chr14:76,700,173...76,811,869 		JBrowse link
dilated cardiomyopathy 1T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMPO thymopoietin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1T ClinVar PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 More... NCBI chr 5:85,317,648...85,346,528
Ensembl chr 5:85,315,290...85,346,538 		JBrowse link
dilated cardiomyopathy 1U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSEN1 presenilin 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1U OMIM
ClinVar		 PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 More... NCBI chr 7:96,478,179...96,567,884
Ensembl chr 7:96,478,190...96,569,130 		JBrowse link
dilated cardiomyopathy 1V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSEN2 presenilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1V OMIM
ClinVar		 PMID:9384602 PMID:14623725 PMID:14769392 PMID:15130954 PMID:15663477 More... NCBI chr10:14,532,556...14,561,862
Ensembl chr10:14,532,767...14,577,251 		JBrowse link
dilated cardiomyopathy 1W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3M1 adaptor related protein complex 3 subunit mu 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1W ClinVar PMID:11815424 PMID:16236538 PMID:21681106 NCBI chr14:76,813,158...76,835,674
Ensembl chr14:76,801,007...76,835,678 		JBrowse link
G VCL vinculin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1W OMIM
ClinVar		 PMID:9536098 PMID:11815424 PMID:15331426 PMID:15769782 PMID:16199547 More... NCBI chr14:76,700,143...76,811,875
Ensembl chr14:76,700,173...76,811,869 		JBrowse link
dilated cardiomyopathy 1X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKTN fukutin ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Dilated cardiomyopathy 1X OMIM
ClinVar		 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr 1:246,852,387...246,916,650 JBrowse link
dilated cardiomyopathy 1Y term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y ClinVar PMID:28492532 NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333 		JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y | ClinVar Annotator: match by term: Left ventricular noncompaction 9 | ClinVar Annotator: match by term: TPM1-related condition OMIM
ClinVar		 PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,986...109,020,035 		JBrowse link
dilated cardiomyopathy 1Z term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNNC1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1Z OMIM
ClinVar		 PMID:9536098 PMID:11385718 PMID:15542288 PMID:16199547 PMID:16302972 More... NCBI chr13:34,591,571...34,594,320
Ensembl chr13:34,591,386...34,594,337 		JBrowse link
dilated cardiomyopathy 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated cardiomyopathy 2A OMIM
ClinVar		 PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10806205 More... NCBI chr 6:59,366,828...59,377,490
Ensembl chr 6:59,371,080...59,377,734
Ensembl chr 6:59,371,080...59,377,734 		JBrowse link
G TNNT1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 2A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:59,351,445...59,365,584
Ensembl chr 6:59,347,582...59,365,284 		JBrowse link
dilated cardiomyopathy 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATAD1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 2B OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21965549 PMID:24033266 PMID:25741868 More... NCBI chr 9:72,360,321...72,370,064
Ensembl chr 9:72,360,483...72,368,607 		JBrowse link
dilated cardiomyopathy 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC30 coiled-coil domain containing 30 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2c ClinVar PMID:25741868 PMID:28492532 PMID:29754768 NCBI chr 6:168,765,537...168,858,417
Ensembl chr 6:168,765,538...168,870,299 		JBrowse link
G PPCS phosphopantothenoylcysteine synthetase ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2c OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29754768 NCBI chr 6:168,833,945...168,876,831
Ensembl chr 6:168,870,869...168,876,779 		JBrowse link
dilated cardiomyopathy 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL3L ribosomal protein L3 like ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2D OMIM
ClinVar		 PMID:25741868 PMID:32514796 PMID:32870709 PMID:35323613 PMID:37308880 NCBI chr 3:40,004,907...40,016,702
Ensembl chr 3:40,007,868...40,016,699 		JBrowse link
dilated cardiomyopathy 2E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2E OMIM
ClinVar		 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26718681 PMID:28254189 More... NCBI chr17:46,590,302...46,665,326 JBrowse link
dilated cardiomyopathy 2F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAG5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2F OMIM
ClinVar		 PMID:25741868 PMID:35044787
dilated cardiomyopathy 2G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMOD2 leiomodin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2G OMIM
ClinVar		 PMID:25741868 PMID:31517052 PMID:34888509 PMID:35082396 NCBI chr18:23,803,927...23,815,772
Ensembl chr18:23,803,682...23,812,479 		JBrowse link
Dilated Cardiomyopathy 2H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GET3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2H OMIM
ClinVar		 PMID:31461301 NCBI chr 2:66,251,381...66,261,135
Ensembl chr 2:66,251,432...66,260,958 		JBrowse link
Dilated Cardiomyopathy 2I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAP2 cyclase associated actin cytoskeleton regulatory protein 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2I OMIM
ClinVar		 PMID:25741868 PMID:30518548 PMID:33083013 PMID:34862840 NCBI chr 7:13,211,110...13,350,966
Ensembl chr 7:13,211,574...13,350,961 		JBrowse link
Dilated Cardiomyopathy 2J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLII FLII actin remodeling protein ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2j OMIM
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
dilated cardiomyopathy 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK5RAP1 CDK5 regulatory subunit associated protein 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar PMID:25741868 PMID:28492532 NCBI chr17:36,917,276...36,946,232
Ensembl chr17:36,915,953...36,946,187 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B OMIM
ClinVar		 PMID:1549596 PMID:1644931 PMID:2691353 PMID:7581396 PMID:7599638 More... 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: Dilated cardiomyopathy 3B ClinVar NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar PMID:25741868 NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
Dilated Cardiomyopathy with Left Ventricular Noncompaction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 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: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29447731 PMID:31110529 PMID:31333075 More... NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778 		JBrowse link
G ALPK3 alpha kinase 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 7:52,667,342...52,718,775
Ensembl chr 7:52,667,362...52,718,757 		JBrowse link
G C3H2orf49 chromosome 3 C2orf49 homolog ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:49,454,558...49,465,442
Ensembl chr 3:49,454,562...49,465,447 		JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834 		JBrowse link
G CTNNA3 catenin alpha 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr14:69,195,231...70,974,543
Ensembl chr14:69,195,961...70,938,204 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:27697855 PMID:27930701 PMID:28492532 More... NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:19937601 PMID:25741868 PMID:28492532 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: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31333075 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: Left ventricular noncompaction cardiomyopathy ClinVar PMID:20129281 PMID:20152563 PMID:21606396 PMID:21636032 PMID:21723241 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: Left ventricular noncompaction cardiomyopathy ClinVar 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 EYA4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31333075 More... NCBI chr 1:30,260,784...30,575,593
Ensembl chr 1:30,261,917...30,533,604 		JBrowse link
G FHL2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:49,389,900...49,448,459
Ensembl chr 3:49,363,555...49,467,527 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:17646576 PMID:20662977 PMID:24569893 PMID:25741868 PMID:26688388 More... NCBI chr 7:60,010,396...60,052,258
Ensembl chr 7:60,010,283...60,050,689 		JBrowse link
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:34814702 NCBI chr17:46,590,302...46,665,326 JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:26220970 PMID:28492532 PMID:29334134 More... NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210 		JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365 		JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:27789736 PMID:28491533 More... NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:925171 PMID:12818575 PMID:18258667 PMID:19574547 PMID:20624503 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 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:1430197 PMID:1430834 PMID:1552912 PMID:7731997 PMID:8533830 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G MYLK2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr17:35,499,828...35,513,096
Ensembl chr17:35,499,887...35,513,093 		JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29447731 PMID:30847666 PMID:31110529 More... NCBI chr14:71,283,271...71,388,591
Ensembl chr14:71,299,505...71,387,025 		JBrowse link
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:34540771 NCBI chr 6:135,315,000...135,382,911
Ensembl chr 6:135,318,754...135,382,882 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:15489853 PMID:25741868 PMID:28492532 PMID:34540771 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:23768516 PMID:25741868 PMID:31333075 PMID:31568572 PMID:34540771 NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:34540771 NCBI chr13:68,581,128...68,657,911
Ensembl chr13:68,580,812...68,657,829 		JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:27496873 PMID:27531932 More... NCBI chr14:121,058,896...121,269,824
Ensembl chr14:121,210,666...121,269,823 		JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction | ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 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: Left ventricular noncompaction cardiomyopathy ClinVar PMID:12354768 PMID:12820704 PMID:15466642 PMID:15840476 PMID:16540748 More... NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:19438153 PMID:19700766 PMID:20530761 PMID:24033266 PMID:24342716 More... NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TCAP titin-cap ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:30847666 PMID:31983221 NCBI chr12:22,651,666...22,652,904
Ensembl chr12:22,651,664...22,653,722 		JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 PMID:37477868 NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr13:34,591,571...34,594,320
Ensembl chr13:34,591,386...34,594,337 		JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:7592712 PMID:15774859 PMID:17010989 PMID:17872964 PMID:23690394 More... NCBI chr 6:59,366,828...59,377,490
Ensembl chr 6:59,371,080...59,377,734
Ensembl chr 6:59,371,080...59,377,734 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:2025668 PMID:7898523 PMID:9536098 PMID:12818575 PMID:12881443 More... NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396 		JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 PMID:34540771 NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,986...109,020,035 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:18948003 PMID:22335739 PMID:23975875 PMID:24033266 PMID:24395473 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
G VCL vinculin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction ClinVar PMID:11815424 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr14:76,700,143...76,811,875
Ensembl chr14:76,700,173...76,811,869 		JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis OMIM
ClinVar		 PMID:3198322 PMID:9536098 PMID:12101406 PMID:12802069 PMID:15941723 More... NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		JBrowse link
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy OMIM
ClinVar		 PMID:2007407 PMID:2270059 PMID:2526018 PMID:2733290 PMID:4684700 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
Fabry Disease, Cardiac Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLA galactosidase alpha ISO ClinVar Annotator: match by term: Fabry disease, cardiac variant ClinVar PMID:105759 PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 More... NCBI chr  X:83,024,582...83,032,273
Ensembl chr  X:83,023,903...83,032,570 		JBrowse link
G RPL36A ribosomal protein L36a ISO ClinVar Annotator: match by term: Fabry disease, cardiac variant ClinVar PMID:105759 PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 More... NCBI chr  X:83,018,305...83,022,285
Ensembl chr  X:83,018,141...83,022,283 		JBrowse link
geleophysic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar NCBI chr 1:273,119,826...273,155,412
Ensembl chr 1:273,119,904...273,155,409 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar PMID:7738200 PMID:7870075 PMID:8281141 PMID:8430317 PMID:8563763 More... NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
geleophysic dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: ADAMTSL2-related condition | ClinVar Annotator: match by term: Geleophysic dysplasia 1 OMIM
ClinVar		 PMID:18677313 PMID:20301776 PMID:21415077 PMID:24014090 PMID:25741868 More... NCBI chr 1:273,119,826...273,155,412
Ensembl chr 1:273,119,904...273,155,409 		JBrowse link
geleophysic dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Geleophysic dysplasia 2 OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:1852206 PMID:2005308 PMID:2254511 More... NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
geleophysic dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LTBP3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Geleophysic dysplasia 3 OMIM
ClinVar		 PMID:25741868 PMID:27068007 PMID:28492532 PMID:30887145 PMID:33082559 NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153 		JBrowse link
Hepatomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A1BG alpha-1-B glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 6:62,935,419...62,939,622 JBrowse link
G ABCA1 ATP binding cassette subfamily A member 1 ISO protein:increased expression:hippocampus (mouse) RGD PMID:25217640 RGD:21408550 NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 treatment ISO RGD PMID:21209952 RGD:153297773 NCBI chr 9:93,171,371...93,262,124 JBrowse link
G ABCC3 ATP binding cassette subfamily C member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr12:26,920,764...26,978,389
Ensembl chr12:26,920,821...26,978,363 		JBrowse link
G ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr13:190,353,019...190,413,110
Ensembl chr13:190,361,744...190,413,110 		JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 1:273,119,826...273,155,412
Ensembl chr 1:273,119,904...273,155,409 		JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:26278112 PMID:28487374 PMID:33607186 PMID:34848246 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696 		JBrowse link
G ALDH1B1 aldehyde dehydrogenase 1 family member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 1:239,109,814...239,114,736
Ensembl chr 1:239,109,809...239,114,730 		JBrowse link
G ANGPTL4 angiopoietin like 4 ISO RGD PMID:15837923 RGD:1625354 NCBI chr 2:70,905,767...70,912,892
Ensembl chr 2:70,904,531...70,912,974 		JBrowse link
G ATG5 autophagy related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22491424 NCBI chr 1:72,343,950...72,520,402
Ensembl chr 1:72,270,799...72,520,396 		JBrowse link
G ATG7 autophagy related 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26483381 NCBI chr13:67,301,756...67,699,141
Ensembl chr13:67,417,938...67,707,654 		JBrowse link
G CABCOCO1 ciliary associated calcium binding coiled-coil 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr14:65,152,913...65,277,978
Ensembl chr14:65,152,923...65,277,972 		JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 2:151,248,356...151,353,907
Ensembl chr 2:151,248,358...151,308,706 		JBrowse link
G COPS3 COP9 signalosome subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr12:61,000,562...61,023,920
Ensembl chr12:60,994,310...61,024,846 		JBrowse link
G CYBA cytochrome b-245 alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420 		JBrowse link
G CYGB cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr12:4,977,245...4,988,283 JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10445756 NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:27036855 NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683 		JBrowse link
G DAPK2 death associated protein kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 1:107,997,274...108,131,723
Ensembl chr 1:107,997,293...108,132,781 		JBrowse link
G DSCAM DS cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr13:203,566,765...204,292,079
Ensembl chr13:203,567,129...204,313,820 		JBrowse link
G FGF12 fibroblast growth factor 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr13:129,237,500...129,817,992
Ensembl chr13:129,240,083...129,817,911 		JBrowse link
G GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr15:61,440,625...62,045,229
Ensembl chr15:61,440,656...62,047,336 		JBrowse link
G GPER1 G protein-coupled estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30641053 NCBI chr 3:711,427...715,982
Ensembl chr 3:712,160...715,980 		JBrowse link
G GPR155 G protein-coupled receptor 155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr15:80,417,247...80,462,091
Ensembl chr15:80,396,976...80,462,018 		JBrowse link
G HDC histidine decarboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 1:121,505,677...121,525,416
Ensembl chr 1:121,505,751...121,525,252 		JBrowse link
G HNF1A HNF1 homeobox A ISO RGD PMID:28394260 RGD:14700773 NCBI chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 2:69,280,940...69,290,267
Ensembl chr 2:69,276,336...69,294,382 		JBrowse link
G KLF11 KLF transcription factor 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 3:126,419,011...126,429,890
Ensembl chr 3:126,418,996...126,429,897 		JBrowse link
G LDLR low density lipoprotein receptor ISO CTD Direct Evidence: therapeutic CTD PMID:37459939 NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,827 		JBrowse link
G LEP leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19716478 PMID:27071101 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323 		JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23038009 PMID:29743445 PMID:36880193 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995 		JBrowse link
G LOC100519628 gamma-crystallin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr15:111,242,765...111,244,738
Ensembl chr15:111,242,765...111,244,775 		JBrowse link
G LOC110260333 hydroxymethylglutaryl-CoA synthase, mitochondrial-like ISO protein:increased expression:liver (rat) RGD PMID:10892723 RGD:2326126 NCBI chr 4:101,385,486...101,404,273
Ensembl chr 4:101,385,512...101,443,405 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,877...31,862,031 		JBrowse link
G MBOAT2 membrane bound O-acyltransferase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 3:127,243,797...127,365,443
Ensembl chr 3:127,243,275...127,360,057 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512 		JBrowse link
G MIR192 microRNA mir-192 ISO CTD Direct Evidence: therapeutic CTD PMID:28483554 NCBI chr 2:7,285,667...7,285,746
Ensembl chr 2:7,285,667...7,285,746 		JBrowse link
G MLC1 modulator of VRAC current 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 5:571,921...593,531
Ensembl chr 5:571,963...591,822 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO CTD Direct Evidence: therapeutic CTD PMID:30641053 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888 		JBrowse link
G MYO1B myosin IB ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr15:95,874,398...96,066,408
Ensembl chr15:95,874,412...96,066,990 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:30026087 PMID:32105670 RGD:21201282 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G NR1H2 nuclear receptor subfamily 1 group H member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 6:55,238,536...55,245,457
Ensembl chr 6:55,239,500...55,245,456 		JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29142166 NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,294...83,684,604 		JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23607986 PMID:32320717 PMID:36030841 NCBI chr13:140,373,571...140,406,129
Ensembl chr13:140,364,075...140,406,112 		JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:23607986 PMID:23721867 PMID:25656644 PMID:32320717 PMID:32435917 NCBI chr 4:89,226,314...89,231,781
Ensembl chr 4:89,226,690...89,236,431 		JBrowse link
G NR5A2 nuclear receptor subfamily 5 group A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29515023 NCBI chr10:22,727,865...22,866,905
Ensembl chr10:22,715,735...22,865,364 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Hepatomegaly ClinVar PMID:25741868 NCBI chr 8:938,832...1,018,032
Ensembl chr 8:964,893...1,018,028 		JBrowse link
G PEPD peptidase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470701 NCBI chr 6:43,177,063...43,290,389
Ensembl chr 6:43,177,062...43,290,369 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:14982965 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239 		JBrowse link
G PRSS35 serine protease 35 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 1:82,714,880...82,734,883
Ensembl chr 1:82,714,884...82,734,884 		JBrowse link
G PTEN phosphatase and tensin homolog ISO RGD PMID:15199412 RGD:1302555 NCBI chr14:99,929,590...100,021,619 JBrowse link
G PYGL glycogen phosphorylase L ISO DNA:SNPs,insertions,deletions:exons,introns:multiple
associated with glycogen storage disease VI;DNA:mutation:multiple		 RGD PMID:17705025 PMID:21646031 RGD:11071447 RGD:21079734 NCBI chr 1:180,645,849...180,704,124
Ensembl chr 1:180,620,314...180,719,979 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469 		JBrowse link
G SBSPON somatomedin B and thrombospondin type 1 domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 4:62,756,262...62,791,621
Ensembl chr 4:62,756,342...62,791,609 		JBrowse link
G SESN2 sestrin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:28209544 NCBI chr 6:85,321,982...85,348,044
Ensembl chr 6:85,324,228...85,348,032 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20140240 NCBI chr14:74,222,988...74,267,527
Ensembl chr14:74,223,115...74,274,646 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Hepatomegaly ClinVar PMID:10923042 PMID:12444104 PMID:15669677 PMID:17994282 PMID:26913919 More... NCBI chr 9:46,247,278...46,254,068
Ensembl chr 9:46,247,284...46,254,031 		JBrowse link
G STAC3 SH3 and cysteine rich domain 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28108177 NCBI chr 5:22,549,008...22,556,330
Ensembl chr 5:22,549,010...22,719,054 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TRIM37 tripartite motif containing 37 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14757854 NCBI chr12:35,259,292...35,393,464
Ensembl chr12:35,260,154...35,393,430 		JBrowse link
Hypertelorism and Tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805 		JBrowse link
hypertrichotic osteochondrodysplasia Cantu type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type OMIM
ClinVar		 PMID:9536098 PMID:10398267 PMID:15034580 PMID:16199547 PMID:16835932 More... NCBI chr 5:51,536,531...51,673,583
Ensembl chr 5:51,536,526...51,691,595 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 ISO ClinVar Annotator: match by term: Cantu syndrome | ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type ClinVar PMID:24176758 PMID:24700710 PMID:25741868 PMID:28492532 PMID:32215968 NCBI chr 5:51,695,927...51,704,402
Ensembl chr 5:51,696,188...51,703,813 		JBrowse link
hypertrophic cardiomyopathy 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASC3 CASC3 exon junction complex subunit ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,199,227...22,221,573
Ensembl chr12:22,199,228...22,221,499 		JBrowse link
G CDC6 cell division cycle 6 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,101,281...22,118,441
Ensembl chr12:22,101,282...22,118,593 		JBrowse link
G CSF3 colony stimulating factor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351 		JBrowse link
G GRB7 growth factor receptor bound protein 7 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,574,579...22,583,386
Ensembl chr12:22,574,584...22,582,345 		JBrowse link
G GSDMA gasdermin A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,364,457...22,379,123
Ensembl chr12:22,363,376...22,379,068 		JBrowse link
G GSDMB gasdermin B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,418,672...22,434,428
Ensembl chr12:22,418,747...22,436,086 		JBrowse link
G IKZF3 IKAROS family zinc finger 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,466,386...22,562,320
Ensembl chr12:22,466,414...22,562,312 		JBrowse link
G LRRC3C leucine rich repeat containing 3C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,398,463...22,409,382
Ensembl chr12:22,398,853...22,399,617 		JBrowse link
G MED24 mediator complex subunit 24 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,309,004...22,332,203
Ensembl chr12:22,303,258...22,332,199 		JBrowse link
G MIEN1 migration and invasion enhancer 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,588,194...22,589,912
Ensembl chr12:22,587,919...22,590,251 		JBrowse link
G MSL1 MSL complex subunit 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,224,611...22,237,557
Ensembl chr12:22,224,615...22,237,587 		JBrowse link
G NR1D1 nuclear receptor subfamily 1 group D member 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,263,549...22,274,131
Ensembl chr12:22,263,657...22,271,643 		JBrowse link
G ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,411,130...22,417,744
Ensembl chr12:22,411,587...22,417,736 		JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,630,391...22,647,820
Ensembl chr12:22,630,435...22,647,813 		JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,648,396...22,651,520
Ensembl chr12:22,648,398...22,649,999 		JBrowse link
G PSMD3 proteasome 26S subunit, non-ATPase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,344,751...22,360,550
Ensembl chr12:22,344,751...22,360,545 		JBrowse link
G RAPGEFL1 Rap guanine nucleotide exchange factor like 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,180,928...22,195,841
Ensembl chr12:22,181,849...22,195,840 		JBrowse link
G TCAP titin-cap ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1N | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25
ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25		 OMIM
ClinVar		 PMID:9536098 PMID:10655062 PMID:12507422 PMID:15582318 PMID:16352453 More... NCBI chr12:22,651,666...22,652,904
Ensembl chr12:22,651,664...22,653,722 		JBrowse link
G THRA thyroid hormone receptor alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,270,506...22,296,684
Ensembl chr12:22,270,062...22,296,618 		JBrowse link
G TMPO thymopoietin ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 ClinVar PMID:16247757 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:85,317,648...85,346,528
Ensembl chr 5:85,315,290...85,346,538 		JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1N | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:3144325 PMID:3349559 PMID:9241277 PMID:10806205 PMID:11735257 More... NCBI chr 6:59,366,828...59,377,490
Ensembl chr 6:59,371,080...59,377,734
Ensembl chr 6:59,371,080...59,377,734 		JBrowse link
G WIPF2 WAS/WASL interacting protein family member 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,119,134...22,164,641
Ensembl chr12:22,119,979...22,164,626 		JBrowse link
G ZPBP2 zona pellucida binding protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chr12:22,454,974...22,462,918
Ensembl chr12:22,454,186...22,462,913 		JBrowse link
IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OAS1 2'-5'-oligoadenylate synthetase 1 ISO ClinVar Annotator: match by term: OAS1-related condition | ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia OMIM
ClinVar		 PMID:16014697 PMID:25741868 PMID:28492532 PMID:29185156 PMID:29455859 More... NCBI chr14:38,851,083...38,867,427
Ensembl chr14:38,851,918...38,859,409 		JBrowse link
Left Ventricular Hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:22608503 PMID:22610116 PMID:23307537 PMID:25741868 PMID:25790160 More... NCBI chr 5:51,536,531...51,673,583
Ensembl chr 5:51,536,526...51,691,595 		JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 susceptibility
treatment		 ISO associated with Hypertension, Essential;DNA:deletion:intron:IVS16+1464-1751del (human)
associated with Anemia
CTD Direct Evidence: marker/mechanism
associated with Aortic Coarctation
protein:increased activity:lung, heart left ventricle, plasma (rat)		 RGD
CTD		 PMID:8349331 PMID:9344638 PMID:10072897 PMID:12131554 PMID:15503682 More... RGD:11038918 RGD:12879391 RGD:12880015 RGD:8142350 RGD:8157600 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO RGD PMID:18544849 RGD:9685455 NCBI chr  X:12,099,849...12,152,204
Ensembl chr  X:12,093,242...12,151,286 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:10601118 NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674 		JBrowse link
G ADAM17 ADAM metallopeptidase domain 17 ISO associated with hypertension RGD PMID:23850346 RGD:13703040 NCBI chr 3:126,795,513...126,853,995
Ensembl chr 3:126,795,426...126,853,995 		JBrowse link
G ADGRL4 adhesion G protein-coupled receptor L4 ISO RGD PMID:22606234 RGD:13838662 NCBI chr 6:134,362,714...134,462,697
Ensembl chr 6:134,362,901...134,462,694 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO associated with hypertension, overweight;protein:decreased expression:serum RGD PMID:22053557 RGD:5686385 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646 		JBrowse link
G ADRB1 adrenoceptor beta 1 ISO protein:decreased expression:left ventricle: RGD PMID:8181801 PMID:17143192 RGD:7241557 RGD:7241563 NCBI chr14:124,400,330...124,401,739
Ensembl chr14:124,400,330...124,401,739 		JBrowse link
G ADRB2 adrenoceptor beta 2 susceptibility ISO associated with hypertension;DNA:polymorphism: :p.Q27E RGD PMID:17178264 RGD:1601120 NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,033,579...150,040,731 		JBrowse link
G ADRB3 adrenoceptor beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17345787 NCBI chr15:48,468,803...48,478,370
Ensembl chr15:48,475,144...48,479,562 		JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO associated with Renal Insufficiency, Chronic; protein:decreased expression:plasma (human) RGD PMID:21470837 RGD:7243956 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|therapeutic CTD PMID:10805403 PMID:14644620 PMID:14751847 PMID:18679781 PMID:20837116 More... 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 susceptibility ISO associated with hypertension;DNA:polymorphism:3' utr:1166A>C RGD PMID:15612584 RGD:1601151 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 CTD Direct Evidence: marker/mechanism CTD PMID:20467270 NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388 		JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:14644620 PMID:31016362 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta treatment ISO RGD PMID:25738576 RGD:13792675 NCBI chr 2:77,216,430...77,219,301
Ensembl chr 2:77,216,436...77,222,632 		JBrowse link
G ATP5PF ATP synthase peripheral stalk subunit F6 ISO associated with hypertension;protein:increased expression:heart left ventricle (rat) RGD PMID:25900768 RGD:11085539 NCBI chr13:189,281,429...189,290,234
Ensembl chr13:189,278,945...189,290,229 		JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO RGD PMID:18993028 RGD:2316133 NCBI chr 7:29,808,849...29,815,345 JBrowse link
G BDKRB1 bradykinin receptor B1 ISO mRNA:increased expression:heart RGD PMID:12489796 RGD:704379 NCBI chr 7:117,491,350...117,492,410
Ensembl chr 7:117,491,350...117,492,410 		JBrowse link
G BDKRB2 bradykinin receptor B2 ISO mRNA:increased expression:heart RGD PMID:12489796 RGD:704379 NCBI chr 7:117,438,622...117,472,005
Ensembl chr 7:117,438,713...117,472,005 		JBrowse link
G BMP10 bone morphogenetic protein 10 ISO associated with Hypertension;mRNA:increased expression:heart left ventricle RGD PMID:17921333 RGD:2302083 NCBI chr 3:73,519,904...73,530,448
Ensembl chr 3:73,519,934...73,529,950 		JBrowse link
G BRD4 bromodomain containing 4 ISO protein:increased expression:heart: RGD PMID:23939492 RGD:9586348 NCBI chr 2:62,250,958...62,345,851
Ensembl chr 2:62,250,989...62,345,362 		JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G ISO mRNA:increased expression:ventricle (rat) RGD PMID:14615287 RGD:2316207 NCBI chr12:26,838,633...26,912,344
Ensembl chr12:26,844,079...26,912,110 		JBrowse link
G CAT catalase ISO protein:decreased expression:heart left ventricle RGD PMID:19298531 RGD:5130755 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		JBrowse link
G CCN2 cellular communication network factor 2 ISO RGD PMID:19707545 RGD:2314476 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691 		JBrowse link
G CCND2 cyclin D2 ISO protein:increased expression:left ventricle: RGD PMID:26300251 RGD:151664604 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:heart RGD PMID:9321826 RGD:2293630 NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831 		JBrowse link
G CKB creatine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406506
G CKM creatine kinase, M-type ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406506 NCBI chr 6:51,704,021...51,716,935
Ensembl chr 6:51,700,507...51,714,814 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G COQ7 coenzyme Q7, hydroxylase ISO associated with Hypertension;protein:altered expression:heart RGD PMID:17130255 RGD:2313649 NCBI chr 3:26,366,006...26,373,604
Ensembl chr 3:26,366,000...26,373,584 		JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO mRNA:decreased expression:left ventricle (rat) RGD PMID:11087261 RGD:1642796 NCBI chr18:42,251,755...42,296,457
Ensembl chr18:42,251,749...42,295,467 		JBrowse link
G CROT carnitine O-octanoyltransferase ISO mRNA:increased expression:heart left ventricle, cardiac muscle cell RGD PMID:14618266 RGD:1599987 NCBI chr 9:93,263,606...93,308,150
Ensembl chr 9:93,258,619...93,308,151 		JBrowse link
G CRP C-reactive protein, pentraxin-related ISO associated with Lupus Nephritis; protein:increased expression:serum RGD PMID:21076530 RGD:6907433 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218 		JBrowse link
G CTF1 cardiotrophin 1 ISO associated with hypertension;protein:increased expression:plasma RGD PMID:15716706 RGD:1626411 NCBI chr 3:17,539,927...17,545,250
Ensembl chr 3:17,539,941...17,544,396 		JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 no_association ISO DNA:transition:5' utr:-344C>T (human) RGD PMID:9494027 PMID:11275936 RGD:4891150 RGD:4891151 NCBI chr 4:1,365,725...1,373,138 JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,980,601...115,021,305 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28611029 PMID:29802319 More... NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		JBrowse link
G DUSP1 dual specificity phosphatase 1 treatment ISO RGD PMID:19347983 RGD:7771584 NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO associated with Hypertension, Renovascular and Diabetes Mellitus, Experimental;mRNA,protein:increased expression:heart left ventricle RGD PMID:14627492 RGD:7244172 NCBI chr 6:79,408,322...79,465,827
Ensembl chr 6:79,408,326...79,466,152 		JBrowse link
G EDN1 endothelin 1 treatment ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:heart left ventricle (rat)		 RGD
CTD		 PMID:10543394 PMID:10601118 PMID:15486036 RGD:8661692 RGD:8662288 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:12624003 RGD:1580955 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO Associated with end stage renal disease RGD PMID:21602183 RGD:6906934 NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595 		JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:16280269 PMID:16627800 RGD:1581013 RGD:1581018 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO mRNA, protein:decreased expression:heart RGD PMID:23727574 RGD:9588322 NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO associated with hypertension RGD PMID:16549517 RGD:155663564 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425 		JBrowse link
G FN1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014 		JBrowse link
G FOXO3 forkhead box O3 ISO associated with Diabetes Mellitus, Type 2;protein:decreased phosphorylation:heart: RGD PMID:18192848 RGD:2293330 NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325 		JBrowse link
G FZD2 frizzled class receptor 2 ISO mRNA:increased expression:heart left ventricle RGD PMID:8762054 RGD:4107053 NCBI chr12:18,740,417...18,742,301
Ensembl chr12:18,740,653...18,742,420 		JBrowse link
G GAA alpha glucosidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11328962 NCBI chr12:2,315,807...2,339,867
Ensembl chr12:2,314,591...2,336,988 		JBrowse link
G GDF15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19505289 NCBI chr 2:59,409,035...59,411,356
Ensembl chr 2:59,408,904...59,411,358 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 severity
treatment		 ISO associated with Hypertension;protein:increased expression:lymphocyte RGD PMID:9618528 PMID:15097244 PMID:26224342 PMID:28759639 RGD:11534182 RGD:13513977 RGD:1625786 RGD:737775 NCBI chr 2:5,209,435...5,227,543
Ensembl chr 2:5,209,439...5,227,758 		JBrowse link
G GSK3A glycogen synthase kinase 3 alpha ISO RGD PMID:17855351 RGD:10401823 NCBI chr 6:49,690,319...49,700,735
Ensembl chr 6:49,690,370...49,701,189 		JBrowse link
G HBEGF heparin binding EGF like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9709397 NCBI chr 2:142,102,455...142,115,192
Ensembl chr 2:142,102,458...142,115,174 		JBrowse link
G HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 ISO mRNA,protein:increased expression:myocyte: RGD PMID:19471099 RGD:9693689 NCBI chr 2:77,708,159...77,730,881
Ensembl chr 2:77,708,162...77,730,881 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO mRNA,protein:increased expression:myocyte: RGD PMID:19471099 RGD:9693689 NCBI chr 7:60,010,396...60,052,258
Ensembl chr 7:60,010,283...60,050,689 		JBrowse link
G HRH2 histamine receptor H2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30310171 NCBI chr 2:81,883,670...81,932,464
Ensembl chr 2:81,883,673...81,932,275 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 susceptibility ISO DNA:SNP:5'utr: (rs846910) (human) RGD PMID:21402901 RGD:329901915 NCBI chr 9:133,231,451...133,278,396
Ensembl chr 9:133,231,451...133,278,396 		JBrowse link
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar NCBI chr17:46,590,302...46,665,326 JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO RGD PMID:18802029 RGD:7297042 NCBI chr 2:41,756,637...41,760,340
Ensembl chr 2:41,757,356...41,765,555 		JBrowse link
G KCNK2 potassium two pore domain channel subfamily K member 2 ISO protein:increased expression:endocardium of left ventricle (rat) RGD PMID:23232841 RGD:9831114 NCBI chr 9:128,429,232...128,659,662
Ensembl chr 9:128,429,092...128,661,639 		JBrowse link
G LEPR leptin receptor ISO RGD PMID:18469142 RGD:5129122 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995 		JBrowse link
G LOC100736765 myosin-6 treatment ISO RGD PMID:2950137 PMID:17592507 RGD:12792940 RGD:12792943 NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644 		JBrowse link
G LOC102167255 leukemia inhibitory factor receptor ISO RGD PMID:15786720 RGD:1581858 NCBI chr16:23,627,700...23,672,724
Ensembl chr16:23,634,298...23,804,854 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:19298531 RGD:5130755 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513 		JBrowse link
G MEF2C myocyte enhancer factor 2C ISO RGD PMID:20041152 RGD:5131608 NCBI chr 2:96,122,407...96,296,927
Ensembl chr 2:96,124,168...96,296,810 		JBrowse link
G MIR133A-1 microRNA mir-133a-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chr17:61,904,781...61,904,883
Ensembl chr17:61,904,781...61,904,883 		JBrowse link
G MIR30A microRNA mir-30a ISO 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 MMP2 matrix metallopeptidase 2 ISO associated with Hypertension, Renovascular RGD PMID:23073243 RGD:8657108 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:25664255 RGD:14696732 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15367823 PMID:19289642 RGD:1582609 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 ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:16199542 PMID:16715312 More... 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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472269 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Increased left ventricular wall thickness | ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:2136805 PMID:3203908 PMID:7883988 PMID:7909436 PMID:8614836 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Increased left ventricular wall thickness ClinVar PMID:16754800 PMID:22958901 PMID:23549607 PMID:24033266 PMID:24111713 More... NCBI chr13:29,730,271...29,735,616
Ensembl chr13:29,707,371...29,735,586 		JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:25741868 PMID:28492532 PMID:29447731 PMID:30847666 PMID:31110529 More... NCBI chr14:71,283,271...71,388,591
Ensembl chr14:71,299,505...71,387,025 		JBrowse link
G NCL nucleolin ISO protein:increased expression:heart RGD PMID:24608397 RGD:9686390 NCBI chr15:132,163,453...132,174,214
Ensembl chr15:132,162,516...132,174,172 		JBrowse link
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:24033266 PMID:28492532 NCBI chr 6:135,315,000...135,382,911
Ensembl chr 6:135,318,754...135,382,882 		JBrowse link
G NFATC3 nuclear factor of activated T cells 3 ISO RGD PMID:9568714 RGD:1579956 NCBI chr 6:28,666,458...28,806,432
Ensembl chr 6:28,666,549...28,806,419 		JBrowse link
G NFATC4 nuclear factor of activated T cells 4 ISO human gene in a mouse model RGD PMID:9568714 RGD:1579956 NCBI chr 7:74,918,982...74,929,688
Ensembl chr 7:74,918,984...74,929,600 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA, protein:altered expression:cardiac myocyte (rat) RGD PMID:9747440 RGD:7794715 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G NOX4 NADPH oxidase 4 ISO associated with hypertension RGD PMID:23850346 RGD:13703040 NCBI chr 9:22,622,105...22,776,691
Ensembl chr 9:22,624,212...22,776,534 		JBrowse link
G NPPA natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism
associated with Kidney Failure, Chronic;mRNA:increased expression:heart
mRNA:increased expression:heart left ventricle		 CTD
RGD		 PMID:9455993 PMID:10755198 PMID:16272201 PMID:24013683 RGD:1580154 RGD:7297044 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 ISO protein:increased expression:plasma
mRNA:increased expression:heart left ventricle
associated with Kidney Failure, Chronic		 RGD PMID:16272201 PMID:17118955 PMID:24013683 RGD:1580154 RGD:1642202 RGD:7297044 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 mRNA:increased expression:heart left ventricle RGD PMID:16272201 RGD:1580154 NCBI chr 4:95,957,220...95,974,253
Ensembl chr 4:95,957,228...95,973,430 		JBrowse link
G NPY neuropeptide Y ISO in dialysis patients with a NPY receptor Y2 mutation RGD PMID:20543711 RGD:7175091 NCBI chr18:47,985,796...47,993,726
Ensembl chr18:47,985,725...47,992,667 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO associated with Hypertension RGD PMID:22990325 RGD:11035227 NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590 		JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 treatment ISO associated with morphine dependence RGD PMID:22304485 RGD:401965468 NCBI chr 8:80,303,172...80,669,050
Ensembl chr 8:80,312,234...80,668,412 		JBrowse link
G PAMR1 peptidase domain containing associated with muscle regeneration 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chr 2:25,422,390...25,591,615
Ensembl chr 2:25,514,193...25,591,617 		JBrowse link
G PBRM1 polybromo 1 ISO associated with Hypertension;protein:increased expression:heart left ventricle RGD PMID:23702776 RGD:9586349 NCBI chr13:34,689,718...34,821,117
Ensembl chr13:34,689,726...34,820,952 		JBrowse link
G PDE1A phosphodiesterase 1A ISO RGD PMID:12834273 RGD:2312523 NCBI chr15:87,619,049...87,965,068
Ensembl chr15:87,619,067...87,966,491 		JBrowse link
G PDE2A phosphodiesterase 2A ISO RGD PMID:12834273 RGD:2312523 NCBI chr 9:7,136,637...7,227,966
Ensembl chr 9:7,136,644...7,227,964 		JBrowse link
G PDE3A phosphodiesterase 3A ISO RGD PMID:12834273 RGD:2312523 NCBI chr 5:52,413,503...52,737,771
Ensembl chr 5:52,409,882...52,738,406 		JBrowse link
G PLAU plasminogen activator, urokinase ISO RGD PMID:15631996 RGD:7241205 NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35218467 NCBI chr 2:513,065...517,962
Ensembl chr 2:513,077...518,182 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO DNA:snp:intron: (human) RGD PMID:11864924 RGD:1580229 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO associated with Hypertension RGD PMID:18360056 RGD:2301893 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:increased expression:heart (mouse) RGD PMID:18802029 RGD:7297042 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 CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:9568714 PMID:15336966 PMID:18344631 RGD:1579951 RGD:1579956 NCBI chr 8:119,429,181...119,754,615
Ensembl chr 8:119,428,779...119,753,105 		JBrowse link
G PPP3CB protein phosphatase 3 catalytic subunit beta ISO RGD PMID:9568714 PMID:16688406 RGD:1579956 RGD:1580706 NCBI chr14:76,239,497...76,305,345
Ensembl chr14:76,248,841...76,305,328 		JBrowse link
G PPP3R1 protein phosphatase 3 regulatory subunit B, alpha ISO CTD Direct Evidence: marker/mechanism
DNA:insertion/deletion:promoter:		 CTD
RGD		 PMID:16209992 PMID:16688406 PMID:18344631 RGD:1580706 RGD:1580708 NCBI chr 3:74,004,620...74,068,173
Ensembl chr 3:74,000,517...74,068,172 		JBrowse link
G PPP5C protein phosphatase 5 catalytic subunit ISO RGD PMID:20875921 RGD:8693745 NCBI chr 6:52,373,266...52,402,048
Ensembl chr 6:52,377,979...52,402,045 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:5,475,077...5,744,761
Ensembl chr18:5,475,077...5,744,657 		JBrowse link
G PRKCA protein kinase C alpha ISO RGD PMID:12619877 RGD:1581273 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 RGD PMID:16900949 RGD:1581275 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 RGD PMID:15532718 RGD:1581272 NCBI chr13:35,290,835...35,323,245
Ensembl chr13:35,290,610...35,323,356 		JBrowse link
G PRKCZ protein kinase C zeta ISO RGD PMID:16900949 RGD:1581275 NCBI chr 6:64,073,343...64,159,187
Ensembl chr 6:64,068,577...64,163,472 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:28522833 RGD:13432569 NCBI chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872 		JBrowse link
G PTEN phosphatase and tensin homolog treatment ISO associated with Arteriovenous Fistula RGD PMID:15929827 PMID:22609523 RGD:12801498 RGD:1581281 NCBI chr14:99,929,590...100,021,619 JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:18542928 RGD:2300276 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G PTH parathyroid hormone treatment ISO associated with Kidney Failure, Chronic
associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human)		 RGD PMID:22647434 PMID:23168286 RGD:7242699 RGD:7242899 NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415 		JBrowse link
G PTK2 protein tyrosine kinase 2 ISO associated with Hypertension;protein:increased expression, increased serine and tyrosine phosphorylation:ventricle myocardium RGD PMID:12732587 RGD:729831 NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,614...2,896,054 		JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO associated with Hypertension;protein:increased expression, increased phosphorylation:cardiac muscle cell RGD PMID:12124218 RGD:1642607 NCBI chr14:11,063,662...11,194,196
Ensembl chr14:11,064,492...11,194,192 		JBrowse link
G PTN pleiotrophin ISO protein:increased expression:heart left ventricle (rat) RGD PMID:21224495 RGD:10043833 NCBI chr18:12,219,708...12,309,045
Ensembl chr18:12,219,787...12,309,044 		JBrowse link
G PTPRF protein tyrosine phosphatase receptor type F ISO CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chr 6:167,656,674...167,743,750
Ensembl chr 6:167,657,680...167,743,721 		JBrowse link
G RAC1 Rac family small GTPase 1 ISO RGD PMID:12642504 RGD:1581295 NCBI chr 3:4,781,776...4,803,510
Ensembl chr 3:4,781,780...4,803,543 		JBrowse link
G RAPGEF3 Rap guanine nucleotide exchange factor 3 ISO protein:increased expression:heart (mouse) RGD PMID:24721545 RGD:9835365 NCBI chr 5:78,101,286...78,134,150
Ensembl chr 5:78,101,299...78,134,105 		JBrowse link
G RASA1 RAS p21 protein activator 1 ISO in males;protein:decreased expression:heart left ventricle (mouse) RGD PMID:24157234 RGD:9999450 NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO associated with Hypertension;protein:increased expression:ventricle myocardium, heart left ventricle RGD PMID:18543397 RGD:2298779 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469 		JBrowse link
G REN renin ISO CTD Direct Evidence: marker/mechanism
protein:decreased activity:plasma (rat)		 CTD
RGD		 PMID:8349331 PMID:18679781 PMID:22796710 RGD:6771379 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 RGD PMID:17316608 RGD:1642807 NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,834...31,986,607 		JBrowse link
G ROCK1 Rho associated coiled-coil containing protein kinase 1 ISO RGD PMID:17316608 RGD:1642807 NCBI chr 6:106,163,899...106,314,998
Ensembl chr 6:106,163,989...106,314,944 		JBrowse link
G ROCK2 Rho associated coiled-coil containing protein kinase 2 ISO RGD PMID:17316608 RGD:1642807 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 CTD Direct Evidence: marker/mechanism CTD PMID:19289642 NCBI chr12:36,111,584...36,159,287
Ensembl chr12:36,111,653...36,160,376 		JBrowse link
G RYR1 ryanodine receptor 1 susceptibility ISO DAN:SNPs:introns:rs2071090,rs10500279,rs2960321(human) RGD PMID:21828061 RGD:329812015 NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
G SHC1 SHC adaptor protein 1 ISO RGD PMID:15998704 RGD:1643176 NCBI chr 4:94,818,226...94,831,766
Ensembl chr 4:94,810,875...94,831,765 		JBrowse link
G SIRT1 sirtuin 1 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:myocardium
associated with Hypertension;mRNA, protein:increased expression:heart		 RGD PMID:18192848 PMID:19142216 RGD:2293330 RGD:9495934 NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,167...71,123,297 		JBrowse link
G SIRT6 sirtuin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35798905 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 ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987 		JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO associated with Hypertension RGD PMID:19179646 RGD:6771336 NCBI chr 6:84,373,921...84,426,447
Ensembl chr 6:84,372,649...84,426,997 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO associated with Hypertension;protein:increased expression:heart left ventricle RGD PMID:23702776 RGD:9586349 NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,295 		JBrowse link
G SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 ISO associated with Hypertension;protein:increased expression:heart left ventricle RGD PMID:23702776 RGD:9586349 NCBI chr18:5,958,466...5,989,120
Ensembl chr18:5,958,506...5,989,114 		JBrowse link
G STK11 serine/threonine kinase 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19289642 NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327 		JBrowse link
G TGM2 transglutaminase 2 ISO RGD PMID:12702643 RGD:1302539 NCBI chr17:41,186,765...41,221,686
Ensembl chr17:41,186,770...41,221,637 		JBrowse link
G THRA thyroid hormone receptor alpha ISO associated with Myocardial Infarction;protein:increased expression:heart RGD PMID:17389455 RGD:2314321 NCBI chr12:22,270,506...22,296,684
Ensembl chr12:22,270,062...22,296,618 		JBrowse link
G THRB thyroid hormone receptor beta ISO associated with Myocardial Infarction;protein:decreased expression:heart RGD PMID:17389455 RGD:2314321 NCBI chr13:10,900,716...11,360,587
Ensembl chr13:10,900,724...11,359,544 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Increased left ventricular wall thickness | ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:15631686 PMID:16754800 PMID:19645627 PMID:21846512 PMID:22017532 More... NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31983221 NCBI chr15:84,226,953...84,501,320 JBrowse link
G UCN urocortin ISO associated with Hypertension;mRNA:increased expression:heart left ventricle RGD PMID:11087261 RGD:1642796 NCBI chr 3:111,834,082...111,835,932
Ensembl chr 3:111,835,125...111,835,508 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:12172318 RGD:1580350 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222 		JBrowse link
G XDH xanthine dehydrogenase treatment ISO associated with Renal Insufficiency, Chronic RGD PMID:21719783 RGD:7247645 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169 		JBrowse link
G XRCC3 X-ray repair cross complementing 3 susceptibility ISO associated with hypertension; DNA:SNP:exon 7: p.T241M (rs861539) (Human) RGD PMID:29626209 RGD:401827272
LONG-OLSEN-DISTELMAIER SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RRAGC Ras related GTP binding C ISO ClinVar Annotator: match by term: Long-Olsen-Distelmaier syndrome ClinVar
OMIM		 PMID:25741868 NCBI chr 6:94,785,906...94,803,017
Ensembl chr 6:94,785,910...94,802,988 		JBrowse link
myostatin-related muscle hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C15H2orf88 chromosome 15 C2orf88 homolog ISO ClinVar Annotator: match by term: Myostatin-related muscle hypertrophy ClinVar PMID:10610713 PMID:11555072 PMID:15215484 PMID:19232494 PMID:20301671 More... NCBI chr15:94,628,283...94,794,114
Ensembl chr15:94,478,021...94,791,775 		JBrowse link
G FKRP fukutin related protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:29571322 NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
G MSTN myostatin ISO ClinVar Annotator: match by term: Myostatin-related muscle hypertrophy OMIM
ClinVar		 PMID:10610713 PMID:11555072 PMID:15215484 PMID:19232494 PMID:20301671 More... NCBI chr15:94,623,526...94,628,440
Ensembl chr15:94,620,270...94,628,545 		JBrowse link
peripartum cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STAT3 signal transducer and activator of transcription 3 ISO MouseDO NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992 		JBrowse link
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPK1 alpha kinase 1 ISO ClinVar Annotator: match by term: ALPK1-related condition | ClinVar Annotator: match by term: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30967659 PMID:31053777 PMID:31939038 More... NCBI chr 8:110,241,220...110,368,001
Ensembl chr 8:110,241,619...110,367,912 		JBrowse link
Right Ventricular Hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO associated with Hypertension;protein:increased activity:heart right ventricle (rat) RGD PMID:7585810 RGD:8142368 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 treatment ISO RGD PMID:21357504 RGD:10041003
G BAX BCL2 associated X, apoptosis regulator treatment ISO associated with Pulmonary Arterial Hypertension RGD PMID:26959484 RGD:329969898 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140 		JBrowse link
G CA9 carbonic anhydrase 9 ISO associated with Anoxia;protein:increased expression:heart right ventricle RGD PMID:16714773 RGD:2293204 NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,394,306...236,400,822 		JBrowse link
G CDH5 cadherin 5 ISO protein:decreased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 6:27,108,560...27,142,145
Ensembl chr 6:27,108,597...27,142,177 		JBrowse link
G CSRP3 cysteine and glycine rich protein 3 ISO RGD PMID:11113014 RGD:1598503 NCBI chr 2:40,219,288...40,240,614
Ensembl chr 2:40,215,353...40,240,616 		JBrowse link
G CTNND1 catenin delta 1 treatment ISO RGD PMID:25593290 RGD:38500244 NCBI chr 2:13,143,604...13,209,251
Ensembl chr 2:13,154,338...13,209,250 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:21294880 RGD:6480473 NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232 		JBrowse link
G EGFR epidermal growth factor receptor treatment ISO RGD PMID:31264901 RGD:38599217 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589 		JBrowse link
G ENG endoglin ISO RGD PMID:20042709 RGD:11041178 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783 		JBrowse link
G GJA1 gap junction protein alpha 1 ISO CTD Direct Evidence: therapeutic CTD PMID:36720419 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO protein:increased activity:heart right ventricel (rat) RGD PMID:23124027 RGD:13792786 NCBI chr 2:5,209,435...5,227,543
Ensembl chr 2:5,209,439...5,227,758 		JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 ISO protein:increased expression:heart right ventricle RGD PMID:12955401 RGD:5132894 NCBI chr14:16,460,089...16,462,979
Ensembl chr14:16,459,971...16,462,207 		JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:Right Ventricular: RGD PMID:22711276 RGD:9590133 NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,411 		JBrowse link
G HDAC5 histone deacetylase 5 ISO protein:increased expression:Right Ventricular: RGD PMID:22711276 RGD:9590133 NCBI chr12:19,077,910...19,119,463
Ensembl chr12:19,078,005...19,121,154 		JBrowse link
G HMOX1 heme oxygenase 1 ISO RGD PMID:12230867 PMID:14587309 RGD:1598397 RGD:1598408
G HTR1B 5-hydroxytryptamine receptor 1B ISO RGD PMID:11739290 RGD:1626449 NCBI chr 1:88,597,510...88,598,682
Ensembl chr 1:88,596,237...88,601,757 		JBrowse link
G IGF1 insulin like growth factor 1 treatment ISO RGD PMID:10090325 RGD:12904918 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 treatment ISO RGD PMID:10090325 RGD:12904918 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058 		JBrowse link
G IL6 interleukin 6 treatment ISO associated with pulmonary arterial hypertension RGD PMID:26959484 RGD:329969898 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G JUP junction plakoglobin ISO Naxos disease, OMIM:601214 DNA:deletion:CDS:2157delTG RGD PMID:10902626 RGD:1600286 NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210 		JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 treatment ISO associated with Pulmonary Arterial Hypertension RGD PMID:26959484 RGD:329969898 NCBI chr 6:50,580,016...50,593,518
Ensembl chr 6:50,580,022...50,593,544 		JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30689673 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995 		JBrowse link
G ME1 malic enzyme 1 ISO mRNA:increased expression:right ventricle RGD PMID:23794090 RGD:151361111 NCBI chr 1:82,799,878...82,989,895
Ensembl chr 1:82,799,684...82,991,085 		JBrowse link
G ME2 malic enzyme 2 ISO mRNA:increased expression:right and right ventricles RGD PMID:23794090 RGD:151361111 NCBI chr 1:100,419,404...100,475,778
Ensembl chr 1:100,419,760...100,476,733 		JBrowse link
G MED13 mediator complex subunit 13 ISO associated with Hypertension, Pulmonary RGD PMID:25287062 RGD:9681715 NCBI chr12:36,333,741...36,430,740
Ensembl chr12:36,333,191...36,429,291 		JBrowse link
G MIR20A microRNA mir-20a ISO CTD Direct Evidence: marker/mechanism CTD PMID:32720422 NCBI chr11:60,735,109...60,735,179
Ensembl chr11:60,735,099...60,735,196 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO associated with Hypertension, Pulmonary; protein:increased expression:heart RGD PMID:17913382 RGD:5130174 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 associated with Hypertension, Pulmonary; protein:increased expression:heart RGD PMID:17913382 RGD:5130174 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MTOR mechanistic target of rapamycin kinase treatment ISO RGD PMID:21357504 RGD:10041003 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888 		JBrowse link
G MTPN myotrophin ISO RGD PMID:10329199 RGD:1581047 NCBI chr18:13,330,049...13,395,297
Ensembl chr18:13,330,029...13,395,460 		JBrowse link
G MYH4 myosin, heavy chain 4, skeletal muscle ISO associated with Heart Failure;protein:decreased expression:diaphragm RGD PMID:25060722 RGD:9686065 NCBI chr12:55,190,545...55,216,294
Ensembl chr12:55,190,433...55,212,813 		JBrowse link
G NFATC3 nuclear factor of activated T cells 3 ISO RGD PMID:9568714 RGD:1579956 NCBI chr 6:28,666,458...28,806,432
Ensembl chr 6:28,666,549...28,806,419 		JBrowse link
G NFATC4 nuclear factor of activated T cells 4 ISO human gene in a mouse model RGD PMID:9568714 RGD:1579956 NCBI chr 7:74,918,982...74,929,688
Ensembl chr 7:74,918,984...74,929,600 		JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:17913382 RGD:5130174 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 associated with Hypertension, Pulmonary RGD PMID:22022327 RGD:7794708 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G NPPA natriuretic peptide A ISO RGD PMID:2136863 RGD:7247720 NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,918,845...71,921,405 		JBrowse link
G NRF1 nuclear respiratory factor 1 ISO mRNA:increased expression:hear right ventricle RGD PMID:17704287 RGD:2302404 NCBI chr18:19,008,408...19,142,678
Ensembl chr18:18,998,930...19,142,628 		JBrowse link
G PDE5A phosphodiesterase 5A ISO mRNA, protein:increased expression:myocardium RGD PMID:17606845 RGD:2314467 NCBI chr 8:104,270,858...104,420,955
Ensembl chr 8:104,270,881...104,420,953 		JBrowse link
G PLAT plasminogen activator, tissue type ISO protein:increased expression:heart right ventricle, heart left ventricle (rat) RGD PMID:9405184 RGD:11080746 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO protein:decreased expression:heart right ventricle (rat) RGD PMID:23152488 RGD:7242015 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:9568714 PMID:16799071 RGD:1579956 RGD:1580700 NCBI chr 8:119,429,181...119,754,615
Ensembl chr 8:119,428,779...119,753,105 		JBrowse link
G PPP3CB protein phosphatase 3 catalytic subunit beta ISO RGD PMID:9568714 PMID:16496058 RGD:1579956 RGD:1580703 NCBI chr14:76,239,497...76,305,345
Ensembl chr14:76,248,841...76,305,328 		JBrowse link
G PRKCA protein kinase C alpha ISO RGD PMID:15532718 RGD:1581272 NCBI chr12:12,882,287...13,268,647
Ensembl chr12:12,882,064...13,263,554 		JBrowse link
G PRKCD protein kinase C delta ISO RGD PMID:15532718 RGD:1581272 NCBI chr13:35,290,835...35,323,245
Ensembl chr13:35,290,610...35,323,356 		JBrowse link
G PTK2 protein tyrosine kinase 2 ISO associated with Hypertension, Pulmonary;protein:increased phosphorylation:ventricle myocardium RGD PMID:17913382 RGD:5130174 NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,614...2,896,054 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Right ventricular hypertrophy ClinVar PMID:11992261 PMID:12325025 PMID:12634870 PMID:12717436 PMID:12960218 More... NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G RFC1 replication factor C subunit 1 ISO protein:increased expression:heart right ventricle (rat) RGD PMID:22720015 RGD:401940165 NCBI chr 8:30,552,369...30,635,932
Ensembl chr 8:30,552,400...30,635,867 		JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO mRNA:increased expression:right ventricle RGD PMID:23794090 RGD:151361111 NCBI chr 6:52,647,432...52,661,464
Ensembl chr 6:52,647,438...52,661,459 		JBrowse link
G SLC39A12 solute carrier family 39 member 12 severity ISO RGD PMID:26258299 RGD:10401832 NCBI chr10:44,239,279...44,320,974
Ensembl chr10:44,239,274...44,320,971 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO mRNA:increased expression:right and left ventricles RGD PMID:23794090 RGD:151361111 NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285 		JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO mRNA:increased expression:right ventricle myocardium RGD PMID:22588937 RGD:6771239 NCBI chr 6:84,373,921...84,426,447
Ensembl chr 6:84,372,649...84,426,997 		JBrowse link
G TGFA transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18424623 NCBI chr 3:71,948,232...72,054,257
Ensembl chr 3:71,948,137...72,050,474 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:increased expression:pulmonary artery RGD PMID:17213961 RGD:1601553 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TNF tumor necrosis factor treatment ISO associated with Pulmonary Arterial Hypertension RGD PMID:26959484 RGD:329969898 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 treatment ISO RGD PMID:25593290 RGD:38500244 NCBI chr 9:88,286,911...88,290,131
Ensembl chr 9:88,289,407...88,290,015 		JBrowse link
G UCP2 uncoupling protein 2 ISO RGD PMID:17704287 RGD:2302404 NCBI chr 9:8,358,559...8,364,552
Ensembl chr 9:8,358,025...8,365,547 		JBrowse link
G UCP3 uncoupling protein 3 ISO mRNA:decreased expression:heart right ventricle RGD PMID:17704287 RGD:2302404 NCBI chr 9:8,378,023...8,389,452
Ensembl chr 9:8,378,021...8,386,211 		JBrowse link
G VEGFA vascular endothelial growth factor A treatment ISO associated with Pulmonary arterial hypertension RGD PMID:26959484 RGD:329969898 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
Splenomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G ADA2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Enlarged Spleen ClinVar PMID:24552284 PMID:24552285 PMID:25741868 PMID:27514238 PMID:28492532 NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661 		JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8692887 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943 		JBrowse link
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887 		JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:11095479 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G APP amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27117003 NCBI chr13:189,434,854...189,716,120
Ensembl chr13:189,435,094...189,716,056 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,641,222...124,655,312
Ensembl chr  X:124,641,226...124,655,279 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343 		JBrowse link
G AVPR2 vasopressin receptor 2 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743 		JBrowse link
G BDKRB1 bradykinin receptor B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20096676 NCBI chr 7:117,491,350...117,492,410
Ensembl chr 7:117,491,350...117,492,410 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,383,392...125,439,082
Ensembl chr  X:125,383,414...125,439,082 		JBrowse link
G CARD11 caspase recruitment domain family member 11 ISO ClinVar Annotator: match by term: Enlarged Spleen ClinVar PMID:18323416 PMID:23027925 PMID:23129749 PMID:25352053 PMID:25741868 More... NCBI chr 3:2,145,178...2,266,377
Ensembl chr 3:2,145,178...2,266,355 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,361,003...124,370,072
Ensembl chr  X:124,361,006...124,369,867 		JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,546,451...125,560,059
Ensembl chr  X:125,546,467...125,570,523 		JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,372,941...125,383,272
Ensembl chr  X:125,372,941...125,376,999 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment ISO RGD PMID:10676886 RGD:14398737 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10445756 NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974942 NCBI chr 2:66,150,071...66,152,857
Ensembl chr 2:66,149,862...66,152,855 		JBrowse link
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,404,852...124,414,246
Ensembl chr  X:124,409,289...124,414,212 		JBrowse link
G EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25411909 NCBI chr 3:5,075,026...5,113,390
Ensembl chr 3:5,075,054...5,113,622 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:12740446 RGD:734951 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G F8A1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,280,978...125,282,771 JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,015,985...125,025,119
Ensembl chr  X:125,014,714...125,025,104 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,967,821...124,973,487
Ensembl chr  X:124,967,510...124,973,483 		JBrowse link
G FAS Fas cell surface death receptor ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 PMID:28492532 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr11:5,370,475...5,455,439
Ensembl chr11:5,370,496...5,455,358 		JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,354,032...125,366,029
Ensembl chr  X:125,354,021...125,372,610 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,158,148...125,209,080
Ensembl chr  X:125,158,154...125,209,035 		JBrowse link
G GATA2 GATA binding protein 2 ISO ClinVar Annotator: match by term: Enlarged Spleen ClinVar PMID:25741868 PMID:28492532 NCBI chr13:71,981,139...71,997,626
Ensembl chr13:71,984,067...71,997,619 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832 		JBrowse link
G H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,277,575...125,280,752 JBrowse link
G H2AB2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,537,401...125,540,026 JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,234,735...124,258,133
Ensembl chr  X:124,234,736...124,258,098 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO RGD PMID:22976834 RGD:10402865 NCBI chr 3:68,516,666...68,520,025
Ensembl chr 3:68,516,500...68,519,886 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,528,643...124,537,570
Ensembl chr  X:124,528,585...124,537,575 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
G IL10 interleukin 10 ISO RGD PMID:19060266 RGD:7365027 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer ISO RGD PMID:12219085 RGD:737752 NCBI chr16:35,101,304...35,151,832
Ensembl chr16:35,101,306...35,192,220 		JBrowse link
G IL9R interleukin 9 receptor ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr 3:41,581,253...41,590,485
Ensembl chr 3:41,583,693...41,594,867 		JBrowse link
G INSL6 insulin like 6 ISO ClinVar Annotator: match by term: Enlarged Spleen ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:216,792,785...216,820,197
Ensembl chr 1:216,792,787...216,823,479 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G JAK2 Janus kinase 2 ISO ClinVar Annotator: match by term: Enlarged Spleen ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,001,673...125,003,206 JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MAPT microtubule associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:27117003 NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,373 		JBrowse link
G MECOM MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr13:107,753,207...108,336,136
Ensembl chr13:107,754,482...108,335,702 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,230,412...125,252,384
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,372,941...125,377,910
Ensembl chr  X:125,377,350...125,381,178 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility ISO associated with Common Variable Immunodeficiency;DNA:missense mutation:cds:p.R702W (rs2066844) (human) RGD PMID:20646002 RGD:5508739 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534 		JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25585350
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		JBrowse link
G OCLN occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17015055 NCBI chr16:47,600,175...47,652,435
Ensembl chr16:47,600,212...47,654,033 		JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,543,845...124,567,477
Ensembl chr  X:124,544,944...124,567,369 		JBrowse link
G PEPD peptidase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470701 NCBI chr 6:43,177,063...43,290,389
Ensembl chr 6:43,177,062...43,290,369 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,983,943...124,997,072 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,509,526...124,522,767 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,425,867...124,430,000
Ensembl chr  X:124,425,872...124,429,261 		JBrowse link
G PSEN1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27117003 NCBI chr 7:96,478,179...96,567,884
Ensembl chr 7:96,478,190...96,569,130 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,927,249...124,929,791
Ensembl chr  X:124,926,772...124,929,791 		JBrowse link
G SBDS SBDS ribosome maturation factor ISO ClinVar Annotator: match by term: Enlarged Spleen ClinVar PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chr 3:16,161,524...16,168,619
Ensembl chr 3:16,161,580...16,169,453 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,010,128...125,013,992
Ensembl chr  X:125,010,131...125,011,928 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,007,121...125,009,657
Ensembl chr  X:125,007,122...125,013,980 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,452,182 		JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,254,737...125,262,113
Ensembl chr  X:125,255,157...125,259,938 		JBrowse link
G SPRY3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,744,643...125,764,342
Ensembl chr  X:125,754,671...125,763,636 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,537,545...124,541,635
Ensembl chr  X:124,537,540...124,541,637 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29200404 NCBI chr12:20,498,103...20,574,365
Ensembl chr12:20,508,404...20,574,266 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,695,050...124,699,349 JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,601,920...125,673,716
Ensembl chr  X:125,598,116...125,673,669 		JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:124,234,736...124,244,193
Ensembl chr  X:124,234,738...124,238,598 		JBrowse link
G TYMS thymidylate synthetase ISO mRNA, protein:increased expression, increased activity:spleen (rat) RGD PMID:11554613 RGD:5133431 NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,642,381...105,660,578 		JBrowse link
G VAMP7 vesicle associated membrane protein 7 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,863,266...125,917,232
Ensembl chr  X:125,863,292...125,917,225 		JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:125,485,357...125,506,781
Ensembl chr  X:125,480,808...125,506,771 		JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Enlarged Spleen ClinVar NCBI chr17:32,803,596...32,825,974
Ensembl chr17:32,803,412...32,825,933 		JBrowse link
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS | ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects ClinVar
OMIM		 PMID:9536098 PMID:10980529 PMID:11477212 PMID:12325075 PMID:15622525 More... NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867 		JBrowse link
tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:20022194 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 More... NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778 		JBrowse link
G BMP10 bone morphogenetic protein 10 ISO OMIM:187500 MouseDO NCBI chr 3:73,519,904...73,530,448
Ensembl chr 3:73,519,934...73,529,950 		JBrowse link
G BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr17:57,567,770...57,676,516
Ensembl chr17:57,584,956...57,675,986 		JBrowse link
G CFC1B cryptic, EGF-CFC family member 1B ISO DNA:hypermethylation:promoter: RGD PMID:24479926 RGD:155226880 NCBI chr15:56,943,183...56,951,929 JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO OMIM:187500 MouseDO NCBI chr 1:25,155,652...25,158,517
Ensembl chr 1:25,155,664...25,160,279 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 NCBI chr13:66,194,795...66,203,419
Ensembl chr13:66,194,865...66,203,412 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 ISO OMIM:187500 MouseDO NCBI chr16:3,114,267...3,366,189
Ensembl chr16:3,114,273...3,430,341 		JBrowse link
G DOCK1 dedicator of cytokinesis 1 ISO OMIM:187500 MouseDO NCBI chr14:136,199,747...136,745,488
Ensembl chr14:136,257,807...136,741,882 		JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO OMIM:187500 MouseDO NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248 		JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chr18:19,759,734...19,787,616
Ensembl chr18:19,759,740...19,787,618 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126 		JBrowse link
G FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805 		JBrowse link
G FOXC2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 6:2,552,141...2,555,041
Ensembl chr 6:2,552,862...2,554,367 		JBrowse link
G FOXH1 forkhead box H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 4:320,610...324,570
Ensembl chr 4:322,838...324,481 		JBrowse link
G GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 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:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) RGD PMID:23289003 RGD:155260350 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: Tetralogy of Fallot OMIM
ClinVar		 PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947 NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,849...107,314,626 		JBrowse link
G GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:25741868 PMID:28492532 NCBI chr 2:58,972,918...58,976,294
Ensembl chr 2:58,951,726...58,974,672 		JBrowse link
G GJA1 gap junction protein alpha 1 ISO RGD PMID:16010294 RGD:1582666 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156 		JBrowse link
G GJA5 gap junction protein alpha 5 ISO DNA:duplications
OMIM:187500		 RGD
MouseDO		 PMID:22199024 RGD:7207464 NCBI chr 4:99,854,129...99,871,288
Ensembl chr 4:99,854,392...99,871,286 		JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr14:16,460,089...16,462,979
Ensembl chr14:16,459,971...16,462,207 		JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISO OMIM:187500 MouseDO NCBI chr 1:37,219,887...37,231,321
Ensembl chr 1:37,219,883...37,231,385 		JBrowse link
G HIRA histone cell cycle regulator ISO mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409 		JBrowse link
G INVS inversin ISO OMIM:187500 MouseDO NCBI chr 1:241,897,685...242,058,293
Ensembl chr 1:241,897,764...242,059,050 		JBrowse link
G IRX4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr16:78,940,033...78,944,855
Ensembl chr16:78,937,566...78,945,269 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 More... NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641 		JBrowse link
G KDR kinase insert domain receptor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISO OMIM:187500 MouseDO NCBI chr12:34,499,139...34,512,191
Ensembl chr12:34,499,142...34,512,187 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar 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: Tetralogy of Fallot ClinVar 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: Tetralogy of Fallot ClinVar NCBI chr MT:9,800...10,583
Ensembl chr MT:9,800...10,583 		JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chr 7:88,471,317...88,533,690
Ensembl chr 7:88,471,414...88,537,387 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G NIPBL NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr16:22,152,455...22,364,373
Ensembl chr16:22,152,469...22,363,821 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,162 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138
G NRP1 neuropilin 1 susceptibility ISO DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chr10:56,280,673...56,430,832
Ensembl chr10:56,280,665...56,430,777 		JBrowse link
G NTF3 neurotrophin 3 ISO OMIM:187500 MouseDO NCBI chr 5:65,052,608...65,122,645
Ensembl chr 5:65,052,519...65,123,788 		JBrowse link
G PHC1 polyhomeotic homolog 1 ISO OMIM:187500 MouseDO NCBI chr 5:62,557,774...62,580,640
Ensembl chr 5:62,557,776...62,580,651 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 susceptibility ISO DNA:snp:intron:c.757-4333A>G (rs11066320) (human) RGD PMID:22503907 RGD:12743641 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Fallot tetralogy ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412 		JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 PMID:28592524 PMID:29194579 PMID:35227688 NCBI chr13:175,348,223...176,479,482
Ensembl chr13:175,348,410...176,479,481 		JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More... NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725 		JBrowse link
G TBX20 T-box transcription factor 20 ISO mRNA:increased expression:heart (human)
DNA:hypomethylation:promoter		 RGD PMID:18275040 PMID:31138201 RGD:155882584 RGD:155882585 NCBI chr18:38,635,603...38,681,690
Ensembl chr18:38,635,617...38,678,133 		JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,986...109,020,035 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,773...32,094,287 		JBrowse link
X-linked dilated cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK5RAP1 CDK5 regulatory subunit associated protein 1 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED ClinVar PMID:25741868 PMID:28492532 NCBI chr17:36,917,276...36,946,232
Ensembl chr17:36,915,953...36,946,187 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED OMIM
ClinVar		 PMID:2691353 PMID:7599638 PMID:7881286 PMID:8789442 PMID:8840119 More... NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Pathological Conditions, Signs and Symptoms 11799
      Anatomical Pathological Conditions 2453
        Hypertrophy 878
          Cardiomegaly + 740
          Gigantomastia 0
          Hepatomegaly + 66
          Hypertrophia Musculorum Vera 0
          Hypertrophy of Masticatory Muscles 0
          Kocher-Debre-Semelaigne Syndrome 0
          Splenomegaly + 102
          myostatin-related muscle hypertrophy 3
paths to the root