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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


show annotations for term's descendants           Sort by:
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 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Ace angiotensin I converting enzyme susceptibility
treatment		 ISO
IEP
IMP		 associated with Hypertension, Essential;DNA:deletion:intron:IVS16+1464-1751del (human)
protein:increased activity:lung, heart left ventricle, plasma (rat)
associated with Anemia
CTD Direct Evidence: marker/mechanism
associated with Aortic Coarctation		 CTD
RGD		 PMID:8349331 PMID:15118671 PMID:17625392 PMID:12131554 PMID:15503682 More... RGD:1331525, RGD:8142350, RGD:8157600, RGD:11038918, RGD:12879391, RGD:12880015 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Ace2 angiotensin converting enzyme 2 IEP RGD PMID:18544849 RGD:9685455 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977 		JBrowse link
G Acta1 actin, alpha 1, skeletal muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:10601118 NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Adam17 ADAM metallopeptidase domain 17 IEP associated with hypertension RGD PMID:23850346 RGD:13703040 NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639 		JBrowse link
G Adgrl4 adhesion G protein-coupled receptor L4 ISO RGD PMID:22606234 RGD:13838662 NCBI chr 2:240,354,909...240,457,231
Ensembl chr 2:240,354,941...240,457,225 		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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adrb1 adrenoceptor beta 1 IMP
ISO		 protein:decreased expression:left ventricle: RGD PMID:17143192 PMID:8181801 RGD:7241557, RGD:7241563 NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259 		JBrowse link
G Adrb2 adrenoceptor beta 2 susceptibility ISO associated with hypertension;DNA:polymorphism: :p.Q27E RGD PMID:17178264 RGD:1601120 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17345787 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552 		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 chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		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 chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a susceptibility ISO associated with hypertension;DNA:polymorphism:3' utr:1166A>C RGD PMID:15612584 RGD:1601151 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20467270 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:14644620 PMID:31016362 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment IEP RGD PMID:25738576 RGD:13792675 NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929 		JBrowse link
G Atp5pf ATP synthase peripheral stalk subunit F6 IEP associated with hypertension;protein:increased expression:heart left ventricle (rat) RGD PMID:25900768 RGD:11085539 NCBI chr11:23,881,594...23,889,581
Ensembl chr11:23,881,592...23,889,119 		JBrowse link
G Bak1 BCL2-antagonist/killer 1 IDA RGD PMID:18993028 RGD:2316133 NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264 		JBrowse link
G Bdkrb1 bradykinin receptor B1 IEP mRNA:increased expression:heart RGD PMID:12489796 RGD:704379 NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747 		JBrowse link
G Bdkrb2 bradykinin receptor B2 IEP mRNA:increased expression:heart RGD PMID:12489796 RGD:704379 NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497 		JBrowse link
G Bmp10 bone morphogenetic protein 10 IEP associated with Hypertension;mRNA:increased expression:heart left ventricle RGD PMID:17921333 RGD:2302083 NCBI chr 4:119,872,066...119,877,694
Ensembl chr 4:119,872,045...119,878,627 		JBrowse link
G Brd4 bromodomain containing 4 ISO protein:increased expression:heart: RGD PMID:23939492 RGD:9586348 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539 		JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G IEP mRNA:increased expression:ventricle (rat) RGD PMID:14615287 RGD:2316207 NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752 		JBrowse link
G Cat catalase IEP protein:decreased expression:heart left ventricle RGD PMID:19298531 RGD:5130755 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccn2 cellular communication network factor 2 IDA RGD PMID:19707545 RGD:2314476 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734 		JBrowse link
G Ccnd2 cyclin D2 IEP protein:increased expression:left ventricle: RGD PMID:26300251 RGD:151664604 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IEP protein:decreased expression:heart RGD PMID:9321826 RGD:2293630 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Ckb creatine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406506 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315 		JBrowse link
G Ckm creatine kinase, M-type ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406506 NCBI chr 1:79,061,390...79,071,721
Ensembl chr 1:79,061,456...79,071,720 		JBrowse link
G Cma1 chymase 1 ISO human gene in mouse model
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:14620933 PMID:14620933 RGD:5128600 NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Coq7 coenzyme Q7, hydroxylase IEP associated with Hypertension;protein:altered expression:heart RGD PMID:17130255 RGD:2313649 NCBI chr 1:172,836,359...172,851,173
Ensembl chr 1:172,835,188...172,851,158 		JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 IEP mRNA:decreased expression:left ventricle (rat) RGD PMID:11087261 RGD:1642796 NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904 		JBrowse link
G Crot carnitine O-octanoyltransferase IEP mRNA:increased expression:heart left ventricle, cardiac muscle cell RGD PMID:14618266 RGD:1599987 NCBI chr 4:25,068,270...25,133,111
Ensembl chr 4:25,080,587...25,133,109 		JBrowse link
G Crp C-reactive protein ISO associated with Lupus Nephritis; protein:increased expression:serum RGD PMID:21076530 RGD:6907433 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Ctf1 cardiotrophin 1 ISO associated with hypertension;protein:increased expression:plasma RGD PMID:15716706 RGD:1626411 NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 IEP mRNA:increased expression:cardiac muscle tissue, left ventricle (rat) RGD PMID:19349910 RGD:4145630 NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 no_association ISO DNA:transition:5' utr:-344C>T (human) RGD PMID:11275936 PMID:9494027 RGD:4891151, RGD:4891150 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 no_association ISO DNA:transition:5' utr:-344C>T (human) RGD PMID:9494027 PMID:11275936 RGD:4891150 RGD:4891151 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		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 chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Dusp1 dual specificity phosphatase 1 treatment IEP RGD PMID:19347983 RGD:7771584 NCBI chr10:16,680,478...16,683,275 JBrowse link
G Ece1 endothelin converting enzyme 1 IEP associated with Hypertension, Renovascular and Diabetes Mellitus, Experimental;mRNA,protein:increased expression:heart left ventricle RGD PMID:14627492 RGD:7244172 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
G Edn1 endothelin 1 treatment IEP
IDA
ISO		 protein:increased expression:heart left ventricle (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:10601118 PMID:15486036 PMID:10543394 PMID:10601118 RGD:8661692, RGD:8662288 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Egfr epidermal growth factor receptor IDA RGD PMID:12624003 RGD:1580955 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO Associated with end stage renal disease RGD PMID:21602183 RGD:6906934 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:16280269 RGD:1581013 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit IEP mRNA, protein:decreased expression:heart RGD PMID:23727574 RGD:9588322 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO associated with hypertension RGD PMID:16549517 RGD:155663564 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Foxo3 forkhead box O3 IEP associated with Diabetes Mellitus, Type 2;protein:decreased phosphorylation:heart: RGD PMID:18192848 RGD:2293330 NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561 		JBrowse link
G Fzd2 frizzled class receptor 2 IEP mRNA:increased expression:heart left ventricle RGD PMID:8762054 RGD:4107053 NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334 		JBrowse link
G Gaa alpha glucosidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11328962 NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19505289 NCBI chr16:18,804,457...18,808,043
Ensembl chr16:18,805,239...18,808,055 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 severity
treatment		 ISO
IMP		 associated with Hypertension;protein:increased expression:lymphocyte RGD PMID:15097244 PMID:9618528 PMID:28759639 PMID:26224342 RGD:1625786, RGD:737775, RGD:13513977, RGD:11534182 NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO RGD PMID:17855351 RGD:10401823 NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802 		JBrowse link
G Hbegf heparin-binding EGF-like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9709397 NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441 		JBrowse link
G Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 IEP mRNA,protein:increased expression:myocyte: RGD PMID:19471099 RGD:9693689 NCBI chr 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 IEP mRNA,protein:increased expression:myocyte: RGD PMID:19471099 RGD:9693689 NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639 		JBrowse link
G Hrh2 histamine receptor H 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30310171 NCBI chr17:10,366,004...10,407,791
Ensembl chr17:10,368,298...10,407,631 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 susceptibility ISO DNA:SNP:5'utr: (rs846910) (human) RGD PMID:21402901 RGD:329901915 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO RGD PMID:18802029 RGD:7297042 NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082 		JBrowse link
G Kcnk2 potassium two pore domain channel subfamily K member 2 IEP protein:increased expression:endocardium of left ventricle (rat) RGD PMID:23232841 RGD:9831114 NCBI chr13:100,766,101...100,963,435
Ensembl chr13:100,766,113...100,963,435 		JBrowse link
G Lepr leptin receptor IMP RGD PMID:18469142 RGD:5129122 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Lifr LIF receptor subunit alpha IEP RGD PMID:15786720 RGD:1581858 NCBI chr 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 treatment IEP RGD PMID:19298531 RGD:5130755 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Mef2c myocyte enhancer factor 2C ISO RGD PMID:20041152 RGD:5131608 NCBI chr 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880 		JBrowse link
G Mir30a microRNA 30a ISO RGD PMID:23326547 RGD:11561904 NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670 		JBrowse link
G Mir3582 microRNA 3582 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chr18:1,885,063...1,885,180
Ensembl chr18:1,885,063...1,885,180 		JBrowse link
G Mmp2 matrix metallopeptidase 2 IDA associated with Hypertension, Renovascular RGD PMID:23073243 RGD:8657108 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:25664255 RGD:14696732 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IDA
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19289642 PMID:15367823 RGD:1582609 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:16199542 PMID:16715312 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472269 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Myh6 myosin heavy chain 6 treatment ISO
IEP		 RGD PMID:17592507 PMID:2950137 RGD:12792940, RGD:12792943 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 IEP
ISO		 mRNA, protein:increased expression:heart left ventricle
ClinVar Annotator: match by term: Increased left ventricular wall thickness | ClinVar Annotator: match by term: Left ventricular hypertrophy		 ClinVar
RGD		 PMID:16754800 PMID:20031602 PMID:20624503 PMID:20800588 PMID:21499742 More... RGD:12792943 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		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 chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816 		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 chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
G Ncl nucleolin IEP protein:increased expression:heart RGD PMID:24608397 RGD:9686390 NCBI chr 9:86,999,588...87,008,112
Ensembl chr 9:86,998,019...87,008,136 		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 chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342 		JBrowse link
G Nfatc3 nuclear factor of activated T-cells 3 ISO RGD PMID:9568714 RGD:1579956 NCBI chr19:33,960,643...34,035,150
Ensembl chr19:33,960,852...34,035,150 		JBrowse link
G Nfatc4 nuclear factor of activated T-cells 4 ISO human gene in a mouse model RGD PMID:9568714 RGD:1579956 NCBI chr15:29,286,998...29,314,610
Ensembl chr15:29,305,535...29,314,610 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP mRNA, protein:altered expression:cardiac myocyte (rat) RGD PMID:9747440 RGD:7794715 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nox4 NADPH oxidase 4 IEP associated with hypertension RGD PMID:23850346 RGD:13703040 NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406 		JBrowse link
G Nppa natriuretic peptide A IEP
ISO		 mRNA:increased expression:heart left ventricle
associated with Kidney Failure, Chronic;mRNA:increased expression:heart
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:9455993 PMID:10755198 PMID:16272201 PMID:24013683 RGD:1580154, RGD:7297044 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351 		JBrowse link
G Nppb natriuretic peptide B treatment ISO
IEP
IDA		 protein:increased expression:plasma
mRNA:increased expression:heart left ventricle
associated with Kidney Failure, Chronic		 RGD PMID:17118955 PMID:16272201 PMID:24013683 RGD:1642202, RGD:1580154, RGD:7297044 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Npr1 natriuretic peptide receptor 1 IEP mRNA:increased expression:heart left ventricle RGD PMID:16272201 RGD:1580154 NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505 		JBrowse link
G Npy neuropeptide Y ISO in dialysis patients with a NPY receptor Y2 mutation RGD PMID:20543711 RGD:7175091 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment IEP associated with Hypertension RGD PMID:22990325 RGD:11035227 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 treatment IMP associated with morphine dependence RGD PMID:22304485 RGD:401965468 NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885 		JBrowse link
G Pamr1 peptidase domain containing associated with muscle regeneration 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chr 3:88,889,061...88,988,615
Ensembl chr 3:88,889,046...88,988,606 		JBrowse link
G Pbrm1 polybromo 1 IEP associated with Hypertension;protein:increased expression:heart left ventricle RGD PMID:23702776 RGD:9586349 NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780 		JBrowse link
G Pde1a phosphodiesterase 1A IEP RGD PMID:12834273 RGD:2312523 NCBI chr 3:64,745,140...65,025,178
Ensembl chr 3:64,747,269...65,024,874 		JBrowse link
G Pde2a phosphodiesterase 2A IEP RGD PMID:12834273 RGD:2312523 NCBI chr 1:155,823,590...155,915,434
Ensembl chr 1:155,813,180...155,915,434 		JBrowse link
G Pde3a phosphodiesterase 3A IEP RGD PMID:12834273 RGD:2312523 NCBI chr 4:174,172,804...174,443,944
Ensembl chr 4:174,172,868...174,438,274 		JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:15631996 RGD:7241205 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35218467 NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO DNA:snp:intron: (human) RGD PMID:11864924 RGD:1580229 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma IMP associated with Hypertension RGD PMID:18360056 RGD:2301893 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA:increased expression:heart (mouse) RGD PMID:18802029 RGD:7297042 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18344631 PMID:9568714 RGD:1579956 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974 		JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO RGD PMID:9568714 PMID:16688406 RGD:1579956, RGD:1580706 NCBI chr15:3,759,950...3,804,976
Ensembl chr15:3,760,030...3,804,981 		JBrowse link
G Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18344631 PMID:16209992 PMID:16688406 RGD:1580708, RGD:1580706 NCBI chr14:91,556,743...91,606,391
Ensembl chr14:91,604,121...91,606,907 		JBrowse link
G Ppp5c protein phosphatase 5, catalytic subunit ISO RGD PMID:20875921 RGD:8693745 NCBI chr 1:77,690,203...77,714,507
Ensembl chr 1:77,690,208...77,714,456 		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 chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142 		JBrowse link
G Prkca protein kinase C, alpha IDA RGD PMID:12619877 RGD:1581273 NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012 		JBrowse link
G Prkcb protein kinase C, beta IDA RGD PMID:16900949 RGD:1581275 NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536 		JBrowse link
G Prkcd protein kinase C, delta IDA RGD PMID:15532718 RGD:1581272 NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352 		JBrowse link
G Prkcz protein kinase C, zeta IDA RGD PMID:16900949 RGD:1581275 NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:28522833 RGD:13432569 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Pten phosphatase and tensin homolog treatment IDA
IEP		 associated with Arteriovenous Fistula RGD PMID:15929827 PMID:22609523 RGD:1581281, RGD:12801498 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:18542928 RGD:2300276 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		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:23168286 PMID:22647434 RGD:7242699, RGD:7242899 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Ptk2 protein tyrosine kinase 2 IEP associated with Hypertension;protein:increased expression, increased serine and tyrosine phosphorylation:ventricle myocardium RGD PMID:12732587 RGD:729831 NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783 		JBrowse link
G Ptk2b protein tyrosine kinase 2 beta IEP associated with Hypertension;protein:increased expression, increased phosphorylation:cardiac muscle cell RGD PMID:12124218 RGD:1642607 NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282 		JBrowse link
G Ptn pleiotrophin IEP protein:increased expression:heart left ventricle (rat) RGD PMID:21224495 RGD:10043833 NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456 		JBrowse link
G Ptprf protein tyrosine phosphatase, receptor type, F ISO CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chr 5:131,741,959...131,824,000
Ensembl chr 5:131,742,754...131,810,023 		JBrowse link
G Rac1 Rac family small GTPase 1 IAGP RGD PMID:12642504 RGD:1581295 NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251 		JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor 3 ISO protein:increased expression:heart (mouse) RGD PMID:24721545 RGD:9835365 NCBI chr 7:128,875,772...128,898,203
Ensembl chr 7:128,875,773...128,898,521 		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 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IEP associated with Hypertension;protein:increased expression:ventricle myocardium, heart left ventricle RGD PMID:18543397 RGD:2298779 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Ren renin IEP
ISO		 protein:decreased activity:plasma (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:8349331 PMID:18679781 PMID:22796710 RGD:6771379 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Rhoa ras homolog family member A IMP RGD PMID:17316608 RGD:1642807 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G Rock1 Rho-associated coiled-coil containing protein kinase 1 IMP RGD PMID:17316608 RGD:1642807 NCBI chr18:1,114,532...1,236,345
Ensembl chr18:1,115,905...1,235,571 		JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 IMP RGD PMID:17316608 RGD:1642807 NCBI chr 6:39,679,116...39,774,033
Ensembl chr 6:39,679,082...39,774,031 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19289642 NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908 		JBrowse link
G Ryr1 ryanodine receptor 1 susceptibility ISO DAN:SNPs:introns:rs2071090,rs10500279,rs2960321(human) RGD PMID:21828061 RGD:329812015 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Shc1 SHC adaptor protein 1 ISO RGD PMID:15998704 RGD:1643176 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536 		JBrowse link
G Sirt1 sirtuin 1 IEP associated with Hypertension;mRNA, protein:increased expression:heart
associated with Diabetes Mellitus, Type 2;protein:increased expression:myocardium		 RGD PMID:19142216 PMID:18192848 RGD:9495934, RGD:2293330 NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Sirt6 sirtuin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35798905 NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar
RGD		 PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... RGD:1580618 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 IMP associated with Hypertension RGD PMID:19179646 RGD:6771336 NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IEP associated with Hypertension;protein:increased expression:heart left ventricle RGD PMID:23702776 RGD:9586349 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Smarcd3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 IEP associated with Hypertension;protein:increased expression:heart left ventricle RGD PMID:23702776 RGD:9586349 NCBI chr 4:10,548,693...10,580,334
Ensembl chr 4:10,548,751...10,580,326 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19289642 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Tgm2 transglutaminase 2 IMP RGD PMID:12702643 RGD:1302539 NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981 		JBrowse link
G Thra thyroid hormone receptor alpha IEP associated with Myocardial Infarction;protein:increased expression:heart RGD PMID:17389455 RGD:2314321 NCBI chr10:83,701,885...83,729,408
Ensembl chr10:83,700,755...83,729,936 		JBrowse link
G Thrb thyroid hormone receptor beta IEP associated with Myocardial Infarction;protein:decreased expression:heart RGD PMID:17389455 RGD:2314321 NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916 		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
RGD		 PMID:15631686 PMID:16754800 PMID:19645627 PMID:21846512 PMID:22017532 More... RGD:1580232 NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31983221 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Ucn urocortin IEP associated with Hypertension;mRNA:increased expression:heart left ventricle RGD PMID:11087261 RGD:1642796 NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO RGD PMID:12172318 RGD:1580350 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
G Xdh xanthine dehydrogenase treatment ISO associated with Renal Insufficiency, Chronic RGD PMID:21719783 RGD:7247645 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		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 chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444 		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:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    Pathological Conditions, Signs and Symptoms 13531
      Anatomical Pathological Conditions 2743
        Hypertrophy 1087
          Cardiomegaly 942
            Left Ventricular Hypertrophy 197
              Fabry Disease, Cardiac Variant 1
paths to the root