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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:Left Ventricular Hypertrophy
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Accession:DOID:9004616 term browser browse the term
Definition:Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality.
Synonyms:exact_synonym: Increased Left Ventricular Wall Thickness;   Left Ventricular Hypertrophies
 primary_id: MESH:D017379
 alt_id: RDO:0007042
 xref: EFO:0003896

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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 chrNW_004955413:17,385,966...17,510,220
Ensembl chrNW_004955413:17,382,564...17,510,132 		JBrowse link
G Ace2 angiotensin converting enzyme 2 ISO RGD PMID:18544849 RGD:9685455 NCBI chrNW_004955519:2,591,229...2,643,705
Ensembl chrNW_004955519:2,591,248...2,633,495 		JBrowse link
G Acta1 actin alpha 1, skeletal muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:10601118 NCBI chrNW_004955492:8,644,696...8,647,412
Ensembl chrNW_004955492:8,644,146...8,647,523 		JBrowse link
G Adam17 ADAM metallopeptidase domain 17 ISO associated with hypertension RGD PMID:23850346 RGD:13703040 NCBI chrNW_004955487:5,180,241...5,218,298
Ensembl chrNW_004955487:5,180,252...5,218,216 		JBrowse link
G Adgrl4 adhesion G protein-coupled receptor L4 ISO RGD PMID:22606234 RGD:13838662 NCBI chrNW_004955423:14,395,712...14,487,803
Ensembl chrNW_004955423:14,395,558...14,487,856 		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 chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402 		JBrowse link
G Adrb1 adrenoceptor beta 1 ISO protein:decreased expression:left ventricle: RGD PMID:8181801 PMID:17143192 RGD:7241557 RGD:7241563 NCBI chrNW_004955431:19,025,663...19,027,026 JBrowse link
G Adrb2 adrenoceptor beta 2 susceptibility ISO associated with hypertension;DNA:polymorphism: :p.Q27E RGD PMID:17178264 RGD:1601120 NCBI chrNW_004955415:5,515,157...5,517,198
Ensembl chrNW_004955415:5,515,697...5,516,980 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17345787 NCBI chrNW_004955463:13,663,064...13,665,553 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 chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479 		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 chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357 		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 chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255 		JBrowse link
G Agtr2 angiotensin II receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20467270 NCBI chrNW_004955534:3,653,112...3,654,248
Ensembl chrNW_004955534:3,653,157...3,654,248 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:14644620 PMID:31016362 NCBI chrNW_004955410:20,428,531...20,459,482
Ensembl chrNW_004955410:20,428,546...20,456,836 		JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment ISO RGD PMID:25738576 RGD:13792675 NCBI chrNW_004955495:6,664,394...6,666,693
Ensembl chrNW_004955495:6,664,394...6,666,693 		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 chrNW_004955407:25,601,253...25,609,933
Ensembl chrNW_004955407:25,601,083...25,609,888 		JBrowse link
G Bak1 BCL2 antagonist/killer 1 ISO RGD PMID:18993028 RGD:2316133 NCBI chrNW_004955437:2,036,415...2,041,997
Ensembl chrNW_004955437:2,036,415...2,041,997 		JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO mRNA:increased expression:heart RGD PMID:12489796 RGD:704379 NCBI chrNW_004955438:16,500,219...16,505,394
Ensembl chrNW_004955438:16,500,633...16,501,691 		JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO mRNA:increased expression:heart RGD PMID:12489796 RGD:704379 NCBI chrNW_004955438:16,514,300...16,537,160
Ensembl chrNW_004955438:16,511,759...16,537,172 		JBrowse link
G Bmp10 bone morphogenetic protein 10 ISO associated with Hypertension;mRNA:increased expression:heart left ventricle RGD PMID:17921333 RGD:2302083 NCBI chrNW_004955424:16,124,526...16,130,723
Ensembl chrNW_004955424:16,124,464...16,134,012 		JBrowse link
G Brd4 bromodomain containing 4 ISO protein:increased expression:heart: RGD PMID:23939492 RGD:9586348 NCBI chrNW_004955495:7,959,033...7,989,216
Ensembl chrNW_004955495:7,957,510...7,988,498 		JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO mRNA:increased expression:ventricle (rat) RGD PMID:14615287 RGD:2316207 NCBI chrNW_004955451:11,136,885...11,194,321
Ensembl chrNW_004955451:11,137,214...11,194,036 		JBrowse link
G Cat catalase ISO protein:decreased expression:heart left ventricle RGD PMID:19298531 RGD:5130755 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO RGD PMID:19707545 RGD:2314476 NCBI chrNW_004955436:12,523,602...12,526,986
Ensembl chrNW_004955436:12,522,944...12,526,480 		JBrowse link
G Ccnd2 cyclin D2 ISO protein:increased expression:left ventricle: RGD PMID:26300251 RGD:151664604 NCBI chrNW_004955413:2,083,351...2,108,450
Ensembl chrNW_004955413:2,083,351...2,103,430 		JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:heart RGD PMID:9321826 RGD:2293630 NCBI chrNW_004955413:9,615,542...9,620,542
Ensembl chrNW_004955413:9,615,542...9,620,542 		JBrowse link
G Ckb creatine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406506 NCBI chrNW_004955538:2,379,868...2,380,771 JBrowse link
G Ckm creatine kinase, M-type ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406506 NCBI chrNW_004955555:2,318,072...2,330,733
Ensembl chrNW_004955555:2,318,072...2,336,811 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887 		JBrowse link
G Coq7 coenzyme Q7, hydroxylase ISO associated with Hypertension;protein:altered expression:heart RGD PMID:17130255 RGD:2313649 NCBI chrNW_004955442:3,026,458...3,033,582
Ensembl chrNW_004955442:3,025,484...3,033,582 		JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 ISO mRNA:decreased expression:left ventricle (rat) RGD PMID:11087261 RGD:1642796 NCBI chrNW_004955410:31,830,333...31,874,384
Ensembl chrNW_004955410:31,828,506...31,875,100 		JBrowse link
G Crot carnitine O-octanoyltransferase ISO mRNA:increased expression:heart left ventricle, cardiac muscle cell RGD PMID:14618266 RGD:1599987 NCBI chrNW_004955607:379,121...413,394
Ensembl chrNW_004955607:378,439...413,394 		JBrowse link
G Ctf1 cardiotrophin 1 ISO associated with hypertension;protein:increased expression:plasma RGD PMID:15716706 RGD:1626411 NCBI chrNW_004955493:7,735,996...7,737,559 JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar NCBI chrNW_004955402:18,465,631...18,496,948
Ensembl chrNW_004955402:18,464,989...18,489,475 		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 chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207 		JBrowse link
G Dusp1 dual specificity phosphatase 1 treatment ISO RGD PMID:19347983 RGD:7771584 NCBI chrNW_004955408:25,481,294...25,484,381
Ensembl chrNW_004955408:25,481,294...25,484,381 		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 chrNW_004955452:1,653,783...1,704,619
Ensembl chrNW_004955452:1,651,316...1,751,489 		JBrowse link
G Edn1 endothelin 1 treatment ISO protein:increased expression:heart left ventricle (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10543394 PMID:10601118 PMID:15486036 RGD:8661692 RGD:8662288 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753 		JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:12624003 RGD:1580955 NCBI chrNW_004955456:321,222...456,431 JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO Associated with end stage renal disease RGD PMID:21602183 RGD:6906934 NCBI chrNW_004955436:12,416,147...12,477,214
Ensembl chrNW_004955436:12,415,737...12,480,359 		JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:16280269 PMID:16627800 RGD:1581013 RGD:1581018 NCBI chrNW_004955466:5,587,003...5,644,765
Ensembl chrNW_004955466:5,575,088...5,638,946 		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 chrNW_004955491:4,215,353...4,292,229
Ensembl chrNW_004955491:4,215,298...4,292,235 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO associated with hypertension RGD PMID:16549517 RGD:155663564 NCBI chrNW_004955551:2,321,190...2,427,000 JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chrNW_004955457:629,599...694,948
Ensembl chrNW_004955457:629,518...696,975 		JBrowse link
G Foxo3 forkhead box O3 ISO associated with Diabetes Mellitus, Type 2;protein:decreased phosphorylation:heart: RGD PMID:18192848 RGD:2293330 NCBI chrNW_004955411:33,655,958...33,770,829
Ensembl chrNW_004955411:33,655,958...33,770,829 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO mRNA:increased expression:heart left ventricle RGD PMID:8762054 RGD:4107053 NCBI chrNW_004955451:17,501,410...17,503,726 JBrowse link
G Gaa alpha glucosidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11328962 NCBI chrNW_004955506:2,764,959...2,783,231
Ensembl chrNW_004955506:2,764,959...2,783,231 		JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19505289 NCBI chrNW_004955524:3,123,513...3,125,642
Ensembl chrNW_004955524:3,123,760...3,125,621 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 treatment
severity		 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 chrNW_004955422:18,173,438...18,192,357
Ensembl chrNW_004955422:18,170,616...18,192,412 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO RGD PMID:17855351 RGD:10401823 NCBI chrNW_004955555:668,641...676,351
Ensembl chrNW_004955555:667,973...676,351 		JBrowse link
G Hbegf heparin binding EGF like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9709397 NCBI chrNW_004955418:259,860...321,340
Ensembl chrNW_004955418:309,096...321,387 		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 chrNW_004955495:7,124,060...7,143,730
Ensembl chrNW_004955495:7,124,640...7,194,223 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO mRNA,protein:increased expression:myocyte: RGD PMID:19471099 RGD:9693689 NCBI chrNW_004955450:4,139,852...4,181,377
Ensembl chrNW_004955450:4,139,852...4,181,377 		JBrowse link
G Hrh2 histamine receptor H2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30310171 NCBI chrNW_004955408:28,186,316...28,225,146
Ensembl chrNW_004955408:28,186,249...28,229,411 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 susceptibility ISO DNA:SNP:5'utr: (rs846910) (human) RGD PMID:21402901 RGD:329901915 NCBI chrNW_004955489:2,500,928...2,524,715
Ensembl chrNW_004955489:2,497,680...2,524,805 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar NCBI chrNW_004955445:13,117,312...13,190,061
Ensembl chrNW_004955445:13,118,717...13,187,235 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chrNW_004955451:15,993,055...16,004,152
Ensembl chrNW_004955451:15,989,180...16,004,155 		JBrowse link
G Kcnj11 potassium inwardly rectifying channel subfamily J member 11 ISO RGD PMID:18802029 RGD:7297042 NCBI chrNW_004955414:32,209,426...32,212,424
Ensembl chrNW_004955414:32,210,545...32,211,717 		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 chrNW_004955406:2,793,493...2,975,322
Ensembl chrNW_004955406:2,791,803...2,975,322 		JBrowse link
G Lepr leptin receptor ISO RGD PMID:18469142 RGD:5129122 NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407 		JBrowse link
G Lifr LIF receptor subunit alpha ISO RGD PMID:15786720 RGD:1581858 NCBI chrNW_004955426:23,045,867...23,093,694
Ensembl chrNW_004955426:23,047,167...23,116,891 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:19298531 RGD:5130755 NCBI chrNW_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020 		JBrowse link
G Mef2c myocyte enhancer factor 2C ISO RGD PMID:20041152 RGD:5131608 NCBI chrNW_004955418:22,537,388...22,701,434
Ensembl chrNW_004955418:22,537,285...22,701,434 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO associated with Hypertension, Renovascular RGD PMID:23073243 RGD:8657108 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:25664255 RGD:14696732 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15367823 PMID:19289642 RGD:1582609 NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694 		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 chrNW_004955422:888,529...902,074
Ensembl chrNW_004955422:888,589...901,725 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472269 NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982 		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:24111713 PMID:25132132 More... NCBI chrNW_004955420:25,308,513...25,311,959
Ensembl chrNW_004955420:25,305,759...25,312,271 		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 chrNW_004955425:20,461,654...20,545,626
Ensembl chrNW_004955425:20,471,047...20,544,105 		JBrowse link
G Ncl nucleolin ISO protein:increased expression:heart RGD PMID:24608397 RGD:9686390 NCBI chrNW_004955453:4,154,627...4,164,253
Ensembl chrNW_004955453:4,154,627...4,164,253 		JBrowse link
G Nexn nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:24033266 PMID:28492532 PMID:33029862 NCBI chrNW_004955423:15,278,526...15,299,654
Ensembl chrNW_004955423:15,278,526...15,299,659 		JBrowse link
G Nfatc3 nuclear factor of activated T cells 3 ISO RGD PMID:9568714 RGD:1579956 NCBI chrNW_004955484:8,433,765...8,558,005
Ensembl chrNW_004955484:8,436,330...8,526,680 		JBrowse link
G Nfatc4 nuclear factor of activated T cells 4 ISO human gene in a mouse model RGD PMID:9568714 RGD:1579956 NCBI chrNW_004955409:35,931,208...35,941,555
Ensembl chrNW_004955409:35,931,173...35,940,696 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO mRNA, protein:altered expression:cardiac myocyte (rat) RGD PMID:9747440 RGD:7794715 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814 		JBrowse link
G Nox4 NADPH oxidase 4 ISO associated with hypertension RGD PMID:23850346 RGD:13703040 NCBI chrNW_004955414:4,062,337...4,220,032
Ensembl chrNW_004955414:4,062,081...4,212,746 		JBrowse link
G Nppa natriuretic peptide A ISO associated with Kidney Failure, Chronic;mRNA:increased expression:heart
mRNA:increased expression:heart left ventricle
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:9455993 PMID:10755198 PMID:16272201 PMID:24013683 RGD:1580154 RGD:7297044 NCBI chrNW_004955486:2,061,196...2,062,805
Ensembl chrNW_004955486:2,060,735...2,063,003 		JBrowse link
G Nppb natriuretic peptide B treatment ISO mRNA:increased expression:heart left ventricle
protein:increased expression:plasma
associated with Kidney Failure, Chronic		 RGD PMID:16272201 PMID:17118955 PMID:24013683 RGD:1580154 RGD:1642202 RGD:7297044 NCBI chrNW_004955486:2,054,775...2,056,130 JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO mRNA:increased expression:heart left ventricle RGD PMID:16272201 RGD:1580154 NCBI chrNW_004955545:323,386...338,654
Ensembl chrNW_004955545:323,956...338,097 		JBrowse link
G Npy neuropeptide Y ISO in dialysis patients with a NPY receptor Y2 mutation RGD PMID:20543711 RGD:7175091 NCBI chrNW_004955410:26,348,388...26,355,232
Ensembl chrNW_004955410:26,348,504...26,355,297 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment ISO associated with Hypertension RGD PMID:22990325 RGD:11035227 NCBI chrNW_004955484:7,012,373...7,028,182
Ensembl chrNW_004955484:7,012,506...7,027,604 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3 group C member 2 treatment ISO associated with morphine dependence RGD PMID:22304485 RGD:401965468 NCBI chrNW_004955471:3,059,210...3,397,894
Ensembl chrNW_004955471:3,061,735...3,395,520 		JBrowse link
G Pamr1 peptidase domain containing associated with muscle regeneration 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chrNW_004955422:10,734,673...10,913,258
Ensembl chrNW_004955422:10,828,428...10,913,309 		JBrowse link
G Pbrm1 polybromo 1 ISO associated with Hypertension;protein:increased expression:heart left ventricle RGD PMID:23702776 RGD:9586349 NCBI chrNW_004955430:2,536,086...2,671,094
Ensembl chrNW_004955430:2,536,086...2,670,617 		JBrowse link
G Pde1a phosphodiesterase 1A ISO RGD PMID:12834273 RGD:2312523 NCBI chrNW_004955403:14,906,069...15,202,710
Ensembl chrNW_004955403:14,906,479...15,203,313 		JBrowse link
G Pde2a phosphodiesterase 2A ISO RGD PMID:12834273 RGD:2312523 NCBI chrNW_004955414:18,765,591...18,826,717
Ensembl chrNW_004955414:18,735,822...18,827,236 		JBrowse link
G Pde3a phosphodiesterase 3A ISO RGD PMID:12834273 RGD:2312523 NCBI chrNW_004955413:16,340,827...16,642,731
Ensembl chrNW_004955413:16,340,918...16,643,214 		JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:15631996 RGD:7241205 NCBI chrNW_004955437:17,995,726...18,000,542
Ensembl chrNW_004955437:17,994,537...18,000,209 		JBrowse link
G Pnpla2 patatin like phospholipase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35218467 NCBI chrNW_004955476:11,304,660...11,309,755
Ensembl chrNW_004955476:11,303,843...11,309,181 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO DNA:snp:intron: (human) RGD PMID:11864924 RGD:1580229 NCBI chrNW_004955413:30,306,563...30,366,245
Ensembl chrNW_004955413:30,307,219...30,359,500 		JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO associated with Hypertension RGD PMID:18360056 RGD:2301893 NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA:increased expression:heart (mouse) RGD PMID:18802029 RGD:7297042 NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435 		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 chrNW_004955496:6,934,542...7,059,745
Ensembl chrNW_004955496:6,908,224...7,059,816 		JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO RGD PMID:9568714 PMID:16688406 RGD:1579956 RGD:1580706 NCBI chrNW_004955437:18,323,852...18,377,815
Ensembl chrNW_004955437:18,323,857...18,377,815 		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 chrNW_004955424:16,624,214...16,690,783
Ensembl chrNW_004955424:16,623,917...16,690,783 		JBrowse link
G Ppp5c protein phosphatase 5 catalytic subunit ISO RGD PMID:20875921 RGD:8693745 NCBI chrNW_004955574:523,044...545,461
Ensembl chrNW_004955574:523,005...546,923 		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 chrNW_004955491:5,852,534...6,048,820
Ensembl chrNW_004955491:5,852,082...6,019,318 		JBrowse link
G Prkca protein kinase C alpha ISO RGD PMID:12619877 RGD:1581273 NCBI chrNW_004955478:5,686,639...6,090,356
Ensembl chrNW_004955478:5,686,640...6,083,967 		JBrowse link
G Prkcb protein kinase C beta ISO RGD PMID:16900949 RGD:1581275 NCBI chrNW_004955493:2,395,494...2,710,522
Ensembl chrNW_004955493:2,395,109...2,710,934 		JBrowse link
G Prkcd protein kinase C delta ISO RGD PMID:15532718 RGD:1581272 NCBI chrNW_004955430:3,125,066...3,151,857
Ensembl chrNW_004955430:3,124,738...3,153,274 		JBrowse link
G Prkcz protein kinase C zeta ISO RGD PMID:16900949 RGD:1581275 NCBI chrNW_004955486:8,947,579...9,021,702
Ensembl chrNW_004955486:8,947,579...9,021,702 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:28522833 RGD:13432569 NCBI chrNW_004955439:18,664,230...19,953,358
Ensembl chrNW_004955439:18,664,379...19,951,152 		JBrowse link
G Pten phosphatase and tensin homolog treatment ISO associated with Arteriovenous Fistula RGD PMID:15929827 PMID:22609523 RGD:12801498 RGD:1581281 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:18542928 RGD:2300276 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171 		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 chrNW_004955414:28,828,389...28,831,417
Ensembl chrNW_004955414:28,825,651...28,831,117 		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 chrNW_004955461:14,337,914...14,622,779
Ensembl chrNW_004955461:14,337,914...14,556,931 		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 chrNW_004955403:49,856,056...49,970,800
Ensembl chrNW_004955403:49,855,541...49,973,225 		JBrowse link
G Ptn pleiotrophin ISO protein:increased expression:heart left ventricle (rat) RGD PMID:21224495 RGD:10043833 NCBI chrNW_004955494:5,580,264...5,681,848
Ensembl chrNW_004955494:5,580,422...5,684,190 		JBrowse link
G Ptprf protein tyrosine phosphatase receptor type F ISO CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chrNW_004955537:3,096,601...3,185,682
Ensembl chrNW_004955537:3,096,603...3,185,682 		JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO mRNA:increased expression:heart left ventricle, cardiac muscle cell RGD PMID:14618266 RGD:1599987 NCBI chrNW_004955422:20,411,480...20,424,676
Ensembl chrNW_004955422:20,411,480...20,424,931 		JBrowse link
G Rac1 Rac family small GTPase 1 ISO RGD PMID:12642504 RGD:1581295 NCBI chrNW_004955460:13,270,159...13,295,562
Ensembl chrNW_004955460:13,270,159...13,311,351 		JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor 3 ISO protein:increased expression:heart (mouse) RGD PMID:24721545 RGD:9835365 NCBI chrNW_004955500:6,655,056...6,674,311
Ensembl chrNW_004955500:6,655,056...6,674,311 		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 chrNW_004955418:23,807,740...23,897,699
Ensembl chrNW_004955418:23,807,740...23,897,707 		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 chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516 		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 chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286 		JBrowse link
G Rhoa ras homolog family member A ISO RGD PMID:17316608 RGD:1642807 NCBI chrNW_004955532:1,300,821...1,347,453
Ensembl chrNW_004955532:1,300,462...1,347,451 		JBrowse link
G Rock1 Rho associated coiled-coil containing protein kinase 1 ISO RGD PMID:17316608 RGD:1642807 NCBI chrNW_004955402:9,752,101...9,864,317
Ensembl chrNW_004955402:9,750,730...9,864,317 		JBrowse link
G Rock2 Rho associated coiled-coil containing protein kinase 2 ISO RGD PMID:17316608 RGD:1642807 NCBI chrNW_004955487:5,856,190...5,972,408
Ensembl chrNW_004955487:5,859,204...5,972,401 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19289642 NCBI chrNW_004955451:3,181,085...3,225,610 JBrowse link
G Ryr1 ryanodine receptor 1 susceptibility ISO DAN:SNPs:introns:rs2071090,rs10500279,rs2960321(human) RGD PMID:21828061 RGD:329812015 NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036 		JBrowse link
G Shc1 SHC adaptor protein 1 ISO RGD PMID:15998704 RGD:1643176 NCBI chrNW_004955545:1,468,391...1,479,209
Ensembl chrNW_004955545:1,468,391...1,476,814 		JBrowse link
G Sirt1 sirtuin 1 ISO associated with Hypertension;mRNA, protein:increased expression:heart
associated with Diabetes Mellitus, Type 2;protein:increased expression:myocardium		 RGD PMID:18192848 PMID:19142216 RGD:2293330 RGD:9495934 NCBI chrNW_004955425:20,280,725...20,307,663
Ensembl chrNW_004955425:20,279,963...20,307,663 		JBrowse link
G Sirt6 sirtuin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35798905 NCBI chrNW_004955495:4,641,883...4,650,518
Ensembl chrNW_004955495:4,644,023...4,650,083 		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 chrNW_004955403:23,878,329...23,882,322
Ensembl chrNW_004955403:23,878,329...23,882,322 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 ISO associated with Hypertension RGD PMID:19179646 RGD:6771336 NCBI chrNW_004955452:6,409,833...6,467,841
Ensembl chrNW_004955452:6,409,833...6,467,841 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO associated with Hypertension;protein:increased expression:heart left ventricle RGD PMID:23702776 RGD:9586349 NCBI chrNW_004955495:2,021,671...2,105,155
Ensembl chrNW_004955495:2,021,566...2,105,397 		JBrowse link
G Smarcd3 SWI/SNF related BAF chromatin remodeling complex subunit D3 ISO associated with Hypertension;protein:increased expression:heart left ventricle RGD PMID:23702776 RGD:9586349 NCBI chrNW_004955491:5,653,284...5,657,546
Ensembl chrNW_004955491:5,651,597...5,657,554 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19289642 NCBI chrNW_004955495:6,678,195...6,699,408
Ensembl chrNW_004955495:6,678,195...6,699,058 		JBrowse link
G Tgm2 transglutaminase 2 ISO RGD PMID:12702643 RGD:1302539 NCBI chrNW_004955445:18,544,192...18,576,576
Ensembl chrNW_004955445:18,544,183...18,576,570 		JBrowse link
G Thra thyroid hormone receptor alpha ISO associated with Myocardial Infarction;protein:increased expression:heart RGD PMID:17389455 RGD:2314321 NCBI chrNW_004955451:14,731,746...14,743,545
Ensembl chrNW_004955451:14,731,746...14,744,367 		JBrowse link
G Thrb thyroid hormone receptor beta ISO associated with Myocardial Infarction;protein:decreased expression:heart RGD PMID:17389455 RGD:2314321 NCBI chrNW_004955430:15,992,146...16,322,696
Ensembl chrNW_004955430:15,992,146...16,323,238 		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 chrNW_004955406:37,491,462...37,507,360
Ensembl chrNW_004955406:37,487,154...37,507,639 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31983221 NCBI chrNW_004955403:18,057,344...18,328,389 JBrowse link
G Ucn urocortin ISO associated with Hypertension;mRNA:increased expression:heart left ventricle RGD PMID:11087261 RGD:1642796 NCBI chrNW_004955469:9,277,637...9,278,641
Ensembl chrNW_004955469:9,277,637...9,278,641 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO RGD PMID:12172318 RGD:1580350 NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691 		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 NCBI chrNW_004955538:2,499,297...2,511,898
Ensembl chrNW_004955538:2,501,607...2,509,778 		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 chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14278
    disease of anatomical entity 13984
      thoracic disease 3496
        heart disease 2968
          Cardiomegaly 777
            Left Ventricular Hypertrophy 139
              Fabry Disease, Cardiac Variant 1
Path 2
Term Annotations click to browse term
  disease 14278
    disease of anatomical entity 13984
      respiratory system disease 4529
        thoracic disease 3496
          heart disease 2968
            Cardiomegaly 777
              Left Ventricular Hypertrophy 139
                Fabry Disease, Cardiac Variant 1
paths to the root