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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
For additional species annotation, visit the Alliance of Genome Resources.



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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:25741868 PMID:26871653 PMID:28492532 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 treatment
susceptibility
ISO
IMP
IEP
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)
CTD
RGD
PMID:8349331 PMID:15118671 PMID:10072897 PMID:9344638 PMID:15503682 More... RGD:1331525, RGD:12880015, RGD:12879391, RGD:11038918, RGD:8157600, RGD:8142350 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Ace2 angiotensin I 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 chr19:51,883,713...51,886,725
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 1:255,772,217...255,773,617
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:112,119,673...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 chr13:85,131,635...85,175,179
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 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 chr10:16,680,489...16,683,276 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
ISO
IDA
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 chr14:91,176,931...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 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 chr16:18,805,312...18,807,893
Ensembl chr16:18,805,239...18,808,055
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 treatment
severity
ISO
IMP
associated with Hypertension;protein:increased expression:lymphocyte RGD PMID:15097244 PMID:26224342 PMID:28759639 PMID:9618528 RGD:1625786, RGD:11534182, RGD:13513977, RGD:737775 NCBI chr 1:201,581,480...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 chr17:10,368,355...10,407,791
Ensembl chr17:10,368,298...10,407,631
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: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 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:2136805 PMID:3203908 PMID:7883988 PMID:7909436 PMID:8614836 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:23549607 PMID:24033266 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:28492532 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 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
CTD Direct Evidence: marker/mechanism
associated with Kidney Failure, Chronic;mRNA:increased expression:heart
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
IDA
IEP
protein:increased expression:plasma
associated with Kidney Failure, Chronic
mRNA:increased expression:heart left ventricle
RGD PMID:17118955 PMID:24013683 PMID:16272201 RGD:1642202, RGD:7297044, RGD:1580154 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 Pamr1 peptidase domain containing associated with muscle regeneration 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chr 3:88,888,687...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...91,606,230
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 4:10,010,574...10,252,152
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 chr16:5,769,226...5,807,214
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 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:18542928 RGD:2300276 NCBI chr13:62,164,080...62,169,770
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 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 chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
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 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
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:1315715 PMID:1846223 PMID:2171331 PMID:7596372 PMID:8738659 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 18154
    Pathological Conditions, Signs and Symptoms 11299
      Anatomical Pathological Conditions 2255
        Hypertrophy 913
          Cardiomegaly 768
            Left Ventricular Hypertrophy 190
              Fabry Disease, Cardiac Variant 1
paths to the root