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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_004624752:16,792,202...16,926,552
Ensembl chrNW_004624752:16,792,165...16,927,293 		JBrowse link
G Ace angiotensin I converting enzyme treatment
susceptibility		 ISO associated with Aortic Coarctation
CTD Direct Evidence: marker/mechanism
associated with Anemia
protein:increased activity:lung, heart left ventricle, plasma (rat)
associated with Hypertension, Essential;DNA:deletion:intron:IVS16+1464-1751del (human)		 RGD
CTD		 PMID:8349331 PMID:9344638 PMID:10072897 PMID:12131554 PMID:15503682 More... RGD:11038918 RGD:12879391 RGD:12880015 RGD:8142350 RGD:8157600 NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521 		JBrowse link
G Ace2 angiotensin converting enzyme 2 ISO RGD PMID:18544849 RGD:9685455 NCBI chrNW_004624829:344,823...391,451
Ensembl chrNW_004624829:344,933...391,527 		JBrowse link
G Acta1 actin alpha 1, skeletal muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:10601118 NCBI chrNW_004624775:19,650,923...19,653,707
Ensembl chrNW_004624775:19,650,822...19,654,730 		JBrowse link
G Adam17 ADAM metallopeptidase domain 17 ISO associated with hypertension RGD PMID:23850346 RGD:13703040 NCBI chrNW_004624969:212,089...254,532
Ensembl chrNW_004624969:212,321...253,328 		JBrowse link
G Adgrl4 adhesion G protein-coupled receptor L4 ISO RGD PMID:22606234 RGD:13838662 NCBI chrNW_004624742:18,306,809...18,397,683
Ensembl chrNW_004624742:18,306,871...18,396,342 		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_004624730:69,941,963...69,959,266
Ensembl chrNW_004624730:69,941,001...69,957,012 		JBrowse link
G Adrb1 adrenoceptor beta 1 ISO protein:decreased expression:left ventricle: RGD PMID:8181801 PMID:17143192 RGD:7241557 RGD:7241563 NCBI chrNW_004624737:32,536,096...32,563,721
Ensembl chrNW_004624737:32,541,598...32,563,424 		JBrowse link
G Adrb2 adrenoceptor beta 2 susceptibility ISO associated with hypertension;DNA:polymorphism: :p.Q27E RGD PMID:17178264 RGD:1601120 NCBI chrNW_004624774:8,211,723...8,215,962
Ensembl chrNW_004624774:8,211,984...8,213,240 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17345787 NCBI chrNW_004624780:5,653,499...5,656,138 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_004624754:24,138,086...24,140,900 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_004624775:18,846,222...18,856,093
Ensembl chrNW_004624775:18,849,118...18,855,577 		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_004624730:25,964,848...26,006,468
Ensembl chrNW_004624730:25,964,811...26,006,463 		JBrowse link
G Agtr2 angiotensin II receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20467270 NCBI chrNW_004624967:327,627...332,000
Ensembl chrNW_004624967:329,284...330,372 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:14644620 PMID:31016362 NCBI chrNW_004624739:12,939,183...12,987,574
Ensembl chrNW_004624739:12,942,165...12,987,973 		JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment ISO RGD PMID:25738576 RGD:13792675 NCBI chrNW_004624828:7,429,915...7,432,898
Ensembl chrNW_004624828:7,429,915...7,432,562 		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_004624745:13,779,610...13,787,525
Ensembl chrNW_004624745:13,779,610...13,787,610 		JBrowse link
G Bak1 BCL2 antagonist/killer 1 ISO RGD PMID:18993028 RGD:2316133 NCBI chrNW_004624754:23,297,077...23,302,366
Ensembl chrNW_004624754:23,296,800...23,301,223 		JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO mRNA:increased expression:heart RGD PMID:12489796 RGD:704379 NCBI chrNW_004624734:8,545,707...8,549,846
Ensembl chrNW_004624734:8,548,356...8,549,414 		JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO mRNA:increased expression:heart RGD PMID:12489796 RGD:704379 NCBI chrNW_004624734:8,513,601...8,538,838
Ensembl chrNW_004624734:8,513,814...8,539,036 		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_004624762:4,482,708...4,493,295
Ensembl chrNW_004624762:4,482,674...4,493,329 		JBrowse link
G Brd4 bromodomain containing 4 ISO protein:increased expression:heart: RGD PMID:23939492 RGD:9586348 NCBI chrNW_004624901:2,348,218...2,434,429
Ensembl chrNW_004624901:2,346,734...2,380,852 		JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO mRNA:increased expression:ventricle (rat) RGD PMID:14615287 RGD:2316207 NCBI chrNW_004624795:6,443,322...6,501,673
Ensembl chrNW_004624795:6,443,781...6,501,050 		JBrowse link
G Cat catalase ISO protein:decreased expression:heart left ventricle RGD PMID:19298531 RGD:5130755 NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO RGD PMID:19707545 RGD:2314476 NCBI chrNW_004624753:6,022,033...6,024,866
Ensembl chrNW_004624753:6,023,069...6,024,833 		JBrowse link
G Ccnd2 cyclin D2 ISO protein:increased expression:left ventricle: RGD PMID:26300251 RGD:151664604 NCBI chrNW_004624860:1,383,015...1,405,107
Ensembl chrNW_004624860:1,382,948...1,405,107 		JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:heart RGD PMID:9321826 RGD:2293630 NCBI chrNW_004624752:25,202,474...25,207,107
Ensembl chrNW_004624752:25,203,474...25,207,114 		JBrowse link
G Ckb creatine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406506 NCBI chrNW_004624734:1,346,056...1,349,383
Ensembl chrNW_004624734:1,346,510...1,349,383 		JBrowse link
G Ckm creatine kinase, M-type ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406506 NCBI chrNW_004624907:2,215,260...2,226,891
Ensembl chrNW_004624907:2,215,157...2,226,889 		JBrowse link
G Cma1 chymase 1 ISO human gene in mouse model
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:14620933 RGD:5128600 NCBI chrNW_004624820:8,021,965...8,024,763
Ensembl chrNW_004624820:8,021,959...8,024,851 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chrNW_004624899:1,192,078...1,230,528
Ensembl chrNW_004624899:1,192,360...1,230,404 		JBrowse link
G Coq7 coenzyme Q7, hydroxylase ISO associated with Hypertension;protein:altered expression:heart RGD PMID:17130255 RGD:2313649 NCBI chrNW_004624782:2,682,489...2,689,662
Ensembl chrNW_004624782:2,682,486...2,689,661 		JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 ISO mRNA:decreased expression:left ventricle (rat) RGD PMID:11087261 RGD:1642796 NCBI chrNW_004624739:114,383...161,010
Ensembl chrNW_004624739:114,342...161,044 		JBrowse link
G Crot carnitine O-octanoyltransferase ISO mRNA:increased expression:heart left ventricle, cardiac muscle cell RGD PMID:14618266 RGD:1599987 NCBI chrNW_004624739:34,696,516...34,738,143
Ensembl chrNW_004624739:34,696,511...34,730,419 		JBrowse link
G Crp C-reactive protein ISO associated with Lupus Nephritis; protein:increased expression:serum RGD PMID:21076530 RGD:6907433 NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804 		JBrowse link
G Ctf1 cardiotrophin 1 ISO associated with hypertension;protein:increased expression:plasma RGD PMID:15716706 RGD:1626411 NCBI chrNW_004624782:13,976,308...13,979,327 JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar NCBI chrNW_004624770:1,748,561...1,778,566
Ensembl chrNW_004624770:1,748,276...1,781,117 		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_004624756:18,036,103...18,083,379
Ensembl chrNW_004624756:18,035,892...18,083,336 		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_004624764:6,222,301...6,318,423
Ensembl chrNW_004624764:6,221,867...6,318,477 		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_004624756:13,842,482...13,849,003
Ensembl chrNW_004624756:13,842,164...13,849,029 		JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:12624003 RGD:1580955 NCBI chrNW_004624740:584,133...713,205
Ensembl chrNW_004624740:589,606...713,271 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO Associated with end stage renal disease RGD PMID:21602183 RGD:6906934 NCBI chrNW_004624753:5,918,005...5,983,480
Ensembl chrNW_004624753:5,917,689...5,982,308 		JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:16280269 PMID:16627800 RGD:1581013 RGD:1581018 NCBI chrNW_004624734:36,742,913...36,862,993
Ensembl chrNW_004624734:36,759,104...36,825,295 		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_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO associated with hypertension RGD PMID:16549517 RGD:155663564 NCBI chrNW_004624737:25,052,698...25,158,346
Ensembl chrNW_004624737:25,052,606...25,158,529 		JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chrNW_004624765:707,872...775,056
Ensembl chrNW_004624765:707,755...775,056 		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_004624780:13,621,733...13,740,399
Ensembl chrNW_004624780:13,622,948...13,740,374 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO mRNA:increased expression:heart left ventricle RGD PMID:8762054 RGD:4107053 NCBI chrNW_004624795:577,350...584,110
Ensembl chrNW_004624795:578,571...580,235 		JBrowse link
G Gaa alpha glucosidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11328962 NCBI chrNW_004624801:9,217,633...9,235,931
Ensembl chrNW_004624801:9,217,639...9,235,931 		JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19505289 NCBI chrNW_004624908:1,633,927...1,636,242
Ensembl chrNW_004624908:1,634,174...1,636,242 		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 chrNW_004624767:19,212,218...19,231,218
Ensembl chrNW_004624767:19,210,965...19,231,082 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO RGD PMID:17855351 RGD:10401823 NCBI chrNW_004624907:511,919...522,106
Ensembl chrNW_004624907:511,889...522,168 		JBrowse link
G Hbegf heparin binding EGF like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9709397 NCBI chrNW_004624743:33,112,105...33,124,145
Ensembl chrNW_004624743:33,112,036...33,124,169 		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_004624828:7,889,616...7,908,855
Ensembl chrNW_004624828:7,889,025...7,908,639 		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_004624781:968,608...1,007,969
Ensembl chrNW_004624781:968,748...1,008,200 		JBrowse link
G Hrh2 histamine receptor H2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30310171 NCBI chrNW_004624733:14,261,799...14,308,320
Ensembl chrNW_004624733:14,260,720...14,308,217 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 susceptibility ISO DNA:SNP:5'utr: (rs846910) (human) RGD PMID:21402901 RGD:329901915 NCBI chrNW_004624807:2,260,702...2,293,962
Ensembl chrNW_004624807:2,261,006...2,293,804 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar NCBI chrNW_004624790:10,250,403...10,320,279
Ensembl chrNW_004624790:10,250,472...10,319,110 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chrNW_004624795:1,954,733...1,972,080
Ensembl chrNW_004624795:1,954,290...1,975,018 		JBrowse link
G Kcnj11 potassium inwardly rectifying channel subfamily J member 11 ISO RGD PMID:18802029 RGD:7297042 NCBI chrNW_004624766:9,012,166...9,015,269
Ensembl chrNW_004624766:9,013,225...9,014,397 		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_004624771:20,040,685...20,166,992
Ensembl chrNW_004624771:19,984,857...20,164,021 		JBrowse link
G Lepr leptin receptor ISO RGD PMID:18469142 RGD:5129122 NCBI chrNW_004624742:29,221,742...29,313,273
Ensembl chrNW_004624742:29,223,392...29,337,049 		JBrowse link
G Lifr LIF receptor subunit alpha ISO RGD PMID:15786720 RGD:1581858 NCBI chrNW_004624759:16,368,390...16,478,486
Ensembl chrNW_004624759:16,410,687...16,472,014 		JBrowse link
G LOC101700701 cytochrome P450 11B1, mitochondrial no_association ISO DNA:transition:5' utr:-344C>T (human) RGD PMID:9494027 PMID:11275936 RGD:4891150 RGD:4891151 NCBI chrNW_004624735:13,701,382...13,708,750 JBrowse link
G Mapk1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:19298531 RGD:5130755 NCBI chrNW_004624747:1,296,062...1,389,674
Ensembl chrNW_004624747:1,296,221...1,389,757 		JBrowse link
G Mef2c myocyte enhancer factor 2C ISO RGD PMID:20041152 RGD:5131608 NCBI chrNW_004624743:8,072,871...8,235,174
Ensembl chrNW_004624743:8,072,673...8,235,252 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO associated with Hypertension, Renovascular RGD PMID:23073243 RGD:8657108 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:25664255 RGD:14696732 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:15367823 PMID:19289642 RGD:1582609 NCBI chrNW_004624818:1,570,155...1,698,264
Ensembl chrNW_004624818:1,570,276...1,698,259 		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_004624767:1,406,563...1,420,778
Ensembl chrNW_004624767:1,406,587...1,420,436 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472269 NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806 		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_004624730:74,405,054...74,408,567
Ensembl chrNW_004624730:74,404,915...74,408,752 		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_004624754:2,466,980...2,596,288
Ensembl chrNW_004624754:2,467,071...2,598,386 		JBrowse link
G Ncl nucleolin ISO protein:increased expression:heart RGD PMID:24608397 RGD:9686390 NCBI chrNW_004624843:4,620,501...4,630,521 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_004624742:19,313,262...19,357,052
Ensembl chrNW_004624742:19,313,264...19,349,394 		JBrowse link
G Nfatc3 nuclear factor of activated T cells 3 ISO RGD PMID:9568714 RGD:1579956 NCBI chrNW_004624746:18,083,051...18,210,399
Ensembl chrNW_004624746:18,085,518...18,210,401 		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_004624820:8,136,231...8,145,395
Ensembl chrNW_004624820:8,136,156...8,146,312 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO mRNA, protein:altered expression:cardiac myocyte (rat) RGD PMID:9747440 RGD:7794715 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		JBrowse link
G Nox4 NADPH oxidase 4 ISO associated with hypertension RGD PMID:23850346 RGD:13703040 NCBI chrNW_004624845:669,880...829,471
Ensembl chrNW_004624845:669,902...827,834 		JBrowse link
G Nppa natriuretic peptide A ISO associated with Kidney Failure, Chronic;mRNA:increased expression:heart
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:heart left ventricle		 RGD
CTD		 PMID:9455993 PMID:10755198 PMID:16272201 PMID:24013683 RGD:1580154 RGD:7297044 NCBI chrNW_004624818:1,147,654...1,149,722
Ensembl chrNW_004624818:1,147,974...1,148,927 		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_004624818:1,139,776...1,141,010 JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO mRNA:increased expression:heart left ventricle RGD PMID:16272201 RGD:1580154 NCBI chrNW_004624885:3,462,334...3,475,735
Ensembl chrNW_004624885:3,460,438...3,475,720 		JBrowse link
G Npy neuropeptide Y ISO in dialysis patients with a NPY receptor Y2 mutation RGD PMID:20543711 RGD:7175091 NCBI chrNW_004624739:6,277,704...6,285,454
Ensembl chrNW_004624739:6,277,612...6,285,397 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment ISO associated with Hypertension RGD PMID:22990325 RGD:11035227 NCBI chrNW_004624746:16,684,620...16,698,194
Ensembl chrNW_004624746:16,684,407...16,697,479 		JBrowse link
G Pamr1 peptidase domain containing associated with muscle regeneration 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chrNW_004624767:11,681,209...11,753,310
Ensembl chrNW_004624767:11,681,203...11,754,194 		JBrowse link
G Pbrm1 polybromo 1 ISO associated with Hypertension;protein:increased expression:heart left ventricle RGD PMID:23702776 RGD:9586349 NCBI chrNW_004624822:4,529,350...4,666,714
Ensembl chrNW_004624822:4,529,007...4,663,165 		JBrowse link
G Pde1a phosphodiesterase 1A ISO RGD PMID:12834273 RGD:2312523 NCBI chrNW_004624844:3,898,993...4,207,596
Ensembl chrNW_004624844:3,898,913...4,206,706 		JBrowse link
G Pde2a phosphodiesterase 2A ISO RGD PMID:12834273 RGD:2312523 NCBI chrNW_004624817:4,269,422...4,367,576
Ensembl chrNW_004624817:4,269,347...4,369,486 		JBrowse link
G Pde3a phosphodiesterase 3A ISO RGD PMID:12834273 RGD:2312523 NCBI chrNW_004624752:17,773,803...18,088,611
Ensembl chrNW_004624752:17,781,647...17,829,771 		JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:15631996 RGD:7241205 NCBI chrNW_004624754:7,405,637...7,415,870
Ensembl chrNW_004624754:7,408,983...7,416,559 		JBrowse link
G Pnpla2 patatin like phospholipase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35218467 NCBI chrNW_004624766:21,692,023...21,697,018
Ensembl chrNW_004624766:21,690,873...21,697,009 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO DNA:snp:intron: (human) RGD PMID:11864924 RGD:1580229 NCBI chrNW_004624752:3,646,499...3,702,553
Ensembl chrNW_004624752:3,650,922...3,701,672 		JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO associated with Hypertension RGD PMID:18360056 RGD:2301893 NCBI chrNW_004624956:84,673...207,176
Ensembl chrNW_004624956:83,842...149,481 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA:increased expression:heart (mouse) RGD PMID:18802029 RGD:7297042 NCBI chrNW_004624755:7,826,219...8,460,746
Ensembl chrNW_004624755:8,375,596...8,465,297 		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_004624830:6,318,352...6,584,232
Ensembl chrNW_004624830:6,317,968...6,581,892 		JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO RGD PMID:9568714 PMID:16688406 RGD:1579956 RGD:1580706 NCBI chrNW_004624754:7,045,532...7,097,658
Ensembl chrNW_004624754:7,045,532...7,097,652 		JBrowse link
G Ppp3r1 protein phosphatase 3 regulatory subunit B, alpha ISO DNA:insertion/deletion:promoter:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16209992 PMID:16688406 PMID:18344631 RGD:1580706 RGD:1580708 NCBI chrNW_004624762:5,087,726...5,156,526
Ensembl chrNW_004624762:5,087,705...5,156,922 		JBrowse link
G Ppp5c protein phosphatase 5 catalytic subunit ISO RGD PMID:20875921 RGD:8693745 NCBI chrNW_004624832:7,100,309...7,126,296
Ensembl chrNW_004624832:7,100,216...7,126,500 		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_004624800:4,969,010...5,207,941
Ensembl chrNW_004624800:4,968,866...5,207,501 		JBrowse link
G Prkca protein kinase C alpha ISO RGD PMID:12619877 RGD:1581273 NCBI chrNW_004624870:1,589,775...2,023,160
Ensembl chrNW_004624870:1,596,102...2,023,172 		JBrowse link
G Prkcb protein kinase C beta ISO RGD PMID:16900949 RGD:1581275 NCBI chrNW_004624782:8,974,995...9,287,609
Ensembl chrNW_004624782:8,974,765...9,287,702 		JBrowse link
G Prkcd protein kinase C delta ISO RGD PMID:15532718 RGD:1581272 NCBI chrNW_004624822:4,035,819...4,062,907
Ensembl chrNW_004624822:4,033,130...4,059,555 		JBrowse link
G Prkcz protein kinase C zeta ISO RGD PMID:16900949 RGD:1581275 NCBI chrNW_004624818:7,758,192...7,846,950
Ensembl chrNW_004624818:7,759,770...7,847,208 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:28522833 RGD:13432569 NCBI chrNW_004624855:430,148...1,992,121
Ensembl chrNW_004624855:430,260...1,989,747 		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_004624791:13,975,235...14,056,900 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:18542928 RGD:2300276 NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728 		JBrowse link
G Pth parathyroid hormone treatment ISO associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human)
associated with Kidney Failure, Chronic		 RGD PMID:22647434 PMID:23168286 RGD:7242699 RGD:7242899 NCBI chrNW_004624766:5,489,857...5,492,777
Ensembl chrNW_004624766:5,489,800...5,492,871 		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_004624735:15,356,911...15,713,219
Ensembl chrNW_004624735:15,461,178...15,714,071 		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_004624758:22,065,448...22,182,604
Ensembl chrNW_004624758:22,124,836...22,182,605 		JBrowse link
G Ptn pleiotrophin ISO protein:increased expression:heart left ventricle (rat) RGD PMID:21224495 RGD:10043833 NCBI chrNW_004624765:17,523,086...17,625,264
Ensembl chrNW_004624765:17,522,916...17,548,184 		JBrowse link
G Ptprf protein tyrosine phosphatase receptor type F ISO CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chrNW_004624892:2,825,771...2,932,854 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_004624767:21,626,740...21,639,963
Ensembl chrNW_004624767:21,626,740...21,640,161 		JBrowse link
G Rac1 Rac family small GTPase 1 ISO RGD PMID:12642504 RGD:1581295 NCBI chrNW_004624740:30,912,841...30,933,882
Ensembl chrNW_004624740:30,911,598...30,934,025 		JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor 3 ISO protein:increased expression:heart (mouse) RGD PMID:24721545 RGD:9835365 NCBI chrNW_004624816:4,496,848...4,519,782
Ensembl chrNW_004624816:4,496,856...4,519,911 		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_004624743:6,750,476...6,882,556
Ensembl chrNW_004624743:6,788,108...6,882,223 		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_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272 		JBrowse link
G Ren renin ISO protein:decreased activity:plasma (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:8349331 PMID:18679781 PMID:22796710 RGD:6771379 NCBI chrNW_004624807:6,817,472...6,827,374
Ensembl chrNW_004624807:6,817,195...6,827,462 		JBrowse link
G Rhoa ras homolog family member A ISO RGD PMID:17316608 RGD:1642807 NCBI chrNW_004624730:3,316,122...3,361,820 JBrowse link
G Rock1 Rho associated coiled-coil containing protein kinase 1 ISO RGD PMID:17316608 RGD:1642807 NCBI chrNW_004624770:10,592,304...10,731,640 JBrowse link
G Rock2 Rho associated coiled-coil containing protein kinase 2 ISO RGD PMID:17316608 RGD:1642807 NCBI chrNW_004624865:4,461,200...4,591,309
Ensembl chrNW_004624865:4,461,215...4,588,836 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19289642 NCBI chrNW_004624871:1,667,292...1,705,550
Ensembl chrNW_004624871:1,667,291...1,702,783 		JBrowse link
G Ryr1 ryanodine receptor 1 susceptibility ISO DAN:SNPs:introns:rs2071090,rs10500279,rs2960321(human) RGD PMID:21828061 RGD:329812015 NCBI chrNW_004624794:11,888,211...12,004,457
Ensembl chrNW_004624794:11,888,289...12,004,314 		JBrowse link
G Shc1 SHC adaptor protein 1 ISO RGD PMID:15998704 RGD:1643176 NCBI chrNW_004624885:2,511,039...2,520,883
Ensembl chrNW_004624885:2,511,240...2,521,155 		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_004624754:2,304,476...2,332,705
Ensembl chrNW_004624754:2,304,634...2,330,946 		JBrowse link
G Sirt6 sirtuin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35798905 NCBI chrNW_004624828:5,441,973...5,449,549
Ensembl chrNW_004624828:5,442,057...5,451,520 		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_004624769:15,989,527...15,993,609
Ensembl chrNW_004624769:15,989,547...15,997,680 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 ISO associated with Hypertension RGD PMID:19179646 RGD:6771336 NCBI chrNW_004624764:11,041,118...11,095,892
Ensembl chrNW_004624764:11,039,051...11,095,885 		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_004624828:2,893,075...2,985,968
Ensembl chrNW_004624828:2,893,096...2,985,968 		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_004624800:5,378,364...5,406,474
Ensembl chrNW_004624800:5,379,707...5,406,474 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19289642 NCBI chrNW_004624828:7,444,339...7,466,926
Ensembl chrNW_004624828:7,445,069...7,467,298 		JBrowse link
G Tgm2 transglutaminase 2 ISO RGD PMID:12702643 RGD:1302539 NCBI chrNW_004624842:1,491,583...1,522,293
Ensembl chrNW_004624842:1,491,584...1,522,287 		JBrowse link
G Thra thyroid hormone receptor alpha ISO associated with Myocardial Infarction;protein:increased expression:heart RGD PMID:17389455 RGD:2314321 NCBI chrNW_004624795:3,109,663...3,132,494
Ensembl chrNW_004624795:3,108,854...3,132,464 		JBrowse link
G Thrb thyroid hormone receptor beta ISO associated with Myocardial Infarction;protein:decreased expression:heart RGD PMID:17389455 RGD:2314321 NCBI chrNW_004624788:1,950,888...2,348,895
Ensembl chrNW_004624788:1,950,890...2,349,343 		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_004624807:9,332,202...9,348,610
Ensembl chrNW_004624807:9,336,904...9,348,396 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31983221 NCBI chrNW_004624844:484,593...760,155 JBrowse link
G Ucn urocortin ISO associated with Hypertension;mRNA:increased expression:heart left ventricle RGD PMID:11087261 RGD:1642796 NCBI chrNW_004624738:9,393,004...9,393,966
Ensembl chrNW_004624738:9,393,329...9,393,706 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO RGD PMID:12172318 RGD:1580350 NCBI chrNW_004624857:3,606,573...3,625,991
Ensembl chrNW_004624857:3,606,431...3,627,063 		JBrowse link
G Xdh xanthine dehydrogenase treatment ISO associated with Renal Insufficiency, Chronic RGD PMID:21719783 RGD:7247645 NCBI chrNW_004624738:13,116,317...13,180,935
Ensembl chrNW_004624738:13,115,982...13,181,352 		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_004624734:1,216,641...1,223,860
Ensembl chrNW_004624734:1,217,549...1,223,280 		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_004624902:1,163,360...1,173,087
Ensembl chrNW_004624902:1,163,611...1,173,177 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14170
    disease of anatomical entity 13885
      thoracic disease 3473
        heart disease 2959
          Cardiomegaly 775
            Left Ventricular Hypertrophy 142
              Fabry Disease, Cardiac Variant 1
Path 2
Term Annotations click to browse term
  disease 14170
    disease of anatomical entity 13885
      respiratory system disease 4504
        thoracic disease 3473
          heart disease 2959
            Cardiomegaly 775
              Left Ventricular Hypertrophy 142
                Fabry Disease, Cardiac Variant 1
paths to the root