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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 chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496 		JBrowse link
G ACE angiotensin I converting enzyme treatment
susceptibility		 ISO associated with Aortic Coarctation
protein:increased activity:lung, heart left ventricle, plasma (rat)
associated with Anemia
CTD Direct Evidence: marker/mechanism
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 chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853 		JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO RGD PMID:18544849 RGD:9685455 NCBI chr  X:8,189,267...8,229,415
Ensembl chr  X:15,470,896...15,510,891 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:10601118 NCBI chr 1:204,975,646...204,978,523
Ensembl chr 1:210,007,622...210,010,469 		JBrowse link
G ADAM17 ADAM metallopeptidase domain 17 ISO associated with hypertension RGD PMID:23850346 RGD:13703040 NCBI chr2A:9,478,080...9,545,363
Ensembl chr2A:9,641,201...9,708,054 		JBrowse link
G ADGRL4 adhesion G protein-coupled receptor L4 ISO RGD PMID:22606234 RGD:13838662 NCBI chr 1:78,099,504...78,216,060
Ensembl chr 1:80,236,040...80,353,157 		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 chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885 		JBrowse link
G ADRB1 adrenoceptor beta 1 ISO protein:decreased expression:left ventricle: RGD PMID:8181801 PMID:17143192 RGD:7241557 RGD:7241563 NCBI chr10:110,642,491...110,646,595 JBrowse link
G ADRB2 adrenoceptor beta 2 susceptibility ISO associated with hypertension;DNA:polymorphism: :p.Q27E RGD PMID:17178264 RGD:1601120 NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892 		JBrowse link
G ADRB3 adrenoceptor beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17345787 NCBI chr 8:37,263,730...37,267,475
Ensembl chr 8:34,441,311...34,443,949 		JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO associated with Renal Insufficiency, Chronic; protein:decreased expression:plasma (human) RGD PMID:21470837 RGD:7243956 NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641 		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 chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044 		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 chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380 		JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20467270 NCBI chr  X:105,252,903...105,257,171
Ensembl chr  X:115,671,594...115,672,685 		JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:14644620 PMID:31016362 NCBI chr 7:17,949,254...17,998,737
Ensembl chr 7:17,278,637...17,326,171 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta treatment ISO RGD PMID:25738576 RGD:13792675
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 chr21:12,169,567...12,180,717
Ensembl chr21:25,519,441...25,537,363 		JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO RGD PMID:18993028 RGD:2316133 NCBI chr 6:33,146,998...33,154,755
Ensembl chr 6:34,255,769...34,263,211 		JBrowse link
G BDKRB1 bradykinin receptor B1 ISO mRNA:increased expression:heart RGD PMID:12489796 RGD:704379 NCBI chr14:76,885,923...76,894,456 JBrowse link
G BDKRB2 bradykinin receptor B2 ISO mRNA:increased expression:heart RGD PMID:12489796 RGD:704379 NCBI chr14:76,832,833...76,873,860
Ensembl chr14:96,156,494...96,196,253 		JBrowse link
G BMP10 bone morphogenetic protein 10 ISO associated with Hypertension;mRNA:increased expression:heart left ventricle RGD PMID:17921333 RGD:2302083 NCBI chr2A:68,901,944...68,912,559
Ensembl chr2A:70,023,655...70,034,420 		JBrowse link
G BRD4 bromodomain containing 4 ISO protein:increased expression:heart: RGD PMID:23939492 RGD:9586348 NCBI chr19:14,768,239...14,805,770
Ensembl chr19:15,754,930...15,789,600 		JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G ISO mRNA:increased expression:ventricle (rat) RGD PMID:14615287 RGD:2316207 NCBI chr17:44,654,558...44,786,037
Ensembl chr17:49,529,402...49,595,166 		JBrowse link
G CAT catalase ISO protein:decreased expression:heart left ventricle RGD PMID:19298531 RGD:5130755 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160 		JBrowse link
G CCN2 cellular communication network factor 2 ISO RGD PMID:19707545 RGD:2314476 NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077 		JBrowse link
G CCND2 cyclin D2 ISO protein:increased expression:left ventricle: RGD PMID:26300251 RGD:151664604 NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:heart RGD PMID:9321826 RGD:2293630 NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541 		JBrowse link
G CKB creatine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406506 NCBI chr14:84,145,931...84,149,093 JBrowse link
G CKM creatine kinase, M-type ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406506 NCBI chr19:42,255,158...42,271,467
Ensembl chr19:50,854,556...50,870,366 		JBrowse link
G CMA1 chymase 1 ISO human gene in mouse model
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:14620933 RGD:5128600 NCBI chr14:5,277,269...5,280,335
Ensembl chr14:23,400,345...23,403,548 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956 		JBrowse link
G COQ7 coenzyme Q7, hydroxylase ISO associated with Hypertension;protein:altered expression:heart RGD PMID:17130255 RGD:2313649 NCBI chr16:19,229,649...19,242,131
Ensembl chr16:19,172,135...19,184,158 		JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO mRNA:decreased expression:left ventricle (rat) RGD PMID:11087261 RGD:1642796 NCBI chr 7:31,265,619...31,313,902
Ensembl chr 7:31,386,026...31,434,220 		JBrowse link
G CROT carnitine O-octanoyltransferase ISO mRNA:increased expression:heart left ventricle, cardiac muscle cell RGD PMID:14618266 RGD:1599987 NCBI chr 7:79,339,498...79,393,676
Ensembl chr 7:92,989,868...93,043,832 		JBrowse link
G CRP C-reactive protein ISO associated with Lupus Nephritis; protein:increased expression:serum RGD PMID:21076530 RGD:6907433 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G CTF1 cardiotrophin 1 ISO associated with hypertension;protein:increased expression:plasma RGD PMID:15716706 RGD:1626411 NCBI chr16:24,065,866...24,072,973 JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 no_association ISO DNA:transition:5' utr:-344C>T (human) RGD PMID:9494027 PMID:11275936 RGD:4891150 RGD:4891151 NCBI chr 8:139,622,632...139,630,014
Ensembl chr 8:142,666,534...142,672,575 		JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar NCBI chr18:24,296,505...24,332,997
Ensembl chr18:27,894,603...27,930,843 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28611029 PMID:29802319 More... NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391 		JBrowse link
G DUSP1 dual specificity phosphatase 1 treatment ISO RGD PMID:19347983 RGD:7771584 NCBI chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO associated with Hypertension, Renovascular and Diabetes Mellitus, Experimental;mRNA,protein:increased expression:heart left ventricle RGD PMID:14627492 RGD:7244172 NCBI chr 1:20,166,019...20,290,803
Ensembl chr 1:21,206,199...21,278,909 		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 chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545 		JBrowse link
G EGFR epidermal growth factor receptor ISO RGD PMID:12624003 RGD:1580955 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO Associated with end stage renal disease RGD PMID:21602183 RGD:6906934 NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644 		JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:16280269 PMID:16627800 RGD:1581013 RGD:1581018 NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO mRNA, protein:decreased expression:heart RGD PMID:23727574 RGD:9588322 NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO associated with hypertension RGD PMID:16549517 RGD:155663564 NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		JBrowse link
G FN1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003 		JBrowse link
G FOXO3 forkhead box O3 ISO associated with Diabetes Mellitus, Type 2;protein:decreased phosphorylation:heart: RGD PMID:18192848 RGD:2293330 NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272 		JBrowse link
G FZD2 frizzled class receptor 2 ISO mRNA:increased expression:heart left ventricle RGD PMID:8762054 RGD:4107053 NCBI chr17:12,839,362...12,843,803 JBrowse link
G GAA alpha glucosidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11328962 NCBI chr17:74,188,296...74,206,593
Ensembl chr17:79,723,699...79,741,839 		JBrowse link
G GDF15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19505289 NCBI chr19:17,864,840...17,867,883
Ensembl chr19:18,835,216...18,838,470 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 treatment
severity		 ISO associated with Hypertension;protein:increased expression:lymphocyte RGD PMID:9618528 PMID:15097244 PMID:26224342 PMID:28759639 RGD:11534182 RGD:13513977 RGD:1625786 RGD:737775 NCBI chr11:62,624,647...62,644,846
Ensembl chr11:65,939,164...65,959,066 		JBrowse link
G GSK3A glycogen synthase kinase 3 alpha ISO RGD PMID:17855351 RGD:10401823 NCBI chr19:39,118,330...39,130,768
Ensembl chr19:47,710,197...47,726,948 		JBrowse link
G HBEGF heparin binding EGF like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9709397 NCBI chr 5:135,699,553...135,713,366
Ensembl chr 5:141,816,402...141,830,531 		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 chr19:521,348...528,203 JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO mRNA,protein:increased expression:myocyte: RGD PMID:19471099 RGD:9693689 NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285 		JBrowse link
G HRH2 histamine receptor H2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30310171 NCBI chr 5:171,004,893...171,057,539
Ensembl chr 5:177,928,039...177,931,566 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 susceptibility ISO DNA:SNP:5'utr: (rs846910) (human) RGD PMID:21402901 RGD:329901915 NCBI chr 1:185,262,599...185,311,417
Ensembl chr 1:190,086,449...190,116,765 		JBrowse link
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar NCBI chr20:40,439,975...40,517,438 JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO RGD PMID:18802029 RGD:7297042 NCBI chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729 		JBrowse link
G KCNK2 potassium two pore domain channel subfamily K member 2 ISO protein:increased expression:endocardium of left ventricle (rat) RGD PMID:23232841 RGD:9831114 NCBI chr 1:190,576,180...190,807,367
Ensembl chr 1:195,430,994...195,662,840 		JBrowse link
G LEPR leptin receptor ISO RGD PMID:18469142 RGD:5129122 NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768 		JBrowse link
G LIFR LIF receptor subunit alpha ISO RGD PMID:15786720 RGD:1581858 NCBI chr 5:71,817,431...71,899,101
Ensembl chr 5:76,878,633...76,928,267 		JBrowse link
G LOC100978529 myosin-7 ISO ClinVar Annotator: match by term: Increased left ventricular wall thickness | ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:16754800 PMID:20031602 PMID:20624503 PMID:20800588 PMID:21499742 More... NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:19298531 RGD:5130755 NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335 		JBrowse link
G MEF2C myocyte enhancer factor 2C ISO RGD PMID:20041152 RGD:5131608 NCBI chr 5:26,480,489...26,650,813
Ensembl chr 5:26,681,700...26,786,426 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO associated with Hypertension, Renovascular RGD PMID:23073243 RGD:8657108 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:25664255 RGD:14696732 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15367823 PMID:19289642 RGD:1582609 NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841 		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 chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472269 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		JBrowse link
G MYH6 myosin heavy chain 6 treatment ISO RGD PMID:2950137 PMID:17592507 RGD:12792940 RGD:12792943 NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331 		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 3:46,758,058...46,782,425
Ensembl chr 3:47,859,467...47,865,084 		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 chr10:64,590,232...64,696,512
Ensembl chr10:66,902,008...67,004,967 		JBrowse link
G NCL nucleolin ISO protein:increased expression:heart RGD PMID:24608397 RGD:9686390 NCBI chr2B:118,703,148...118,712,893
Ensembl chr2B:237,490,378...237,500,193 		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 1:77,104,269...77,162,517
Ensembl chr 1:79,187,779...79,244,732 		JBrowse link
G NFATC3 nuclear factor of activated T cells 3 ISO RGD PMID:9568714 RGD:1579956 NCBI chr16:48,456,144...48,603,306
Ensembl chr16:67,888,806...67,996,274 		JBrowse link
G NFATC4 nuclear factor of activated T cells 4 ISO human gene in a mouse model RGD PMID:9568714 RGD:1579956 NCBI chr14:5,141,699...5,156,021
Ensembl chr14:23,266,702...23,279,249 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA, protein:altered expression:cardiac myocyte (rat) RGD PMID:9747440 RGD:7794715 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G NOX4 NADPH oxidase 4 ISO associated with hypertension RGD PMID:23850346 RGD:13703040 NCBI chr11:84,330,362...84,496,755 JBrowse link
G NPPA natriuretic peptide A ISO associated with Kidney Failure, Chronic;mRNA:increased expression:heart
mRNA:increased expression:heart left ventricle
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:9455993 PMID:10755198 PMID:16272201 PMID:24013683 RGD:1580154 RGD:7297044 NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373 		JBrowse link
G NPPB natriuretic peptide B treatment ISO mRNA:increased expression:heart left ventricle
associated with Kidney Failure, Chronic
protein:increased expression:plasma		 RGD PMID:16272201 PMID:17118955 PMID:24013683 RGD:1580154 RGD:1642202 RGD:7297044 NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995 		JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO mRNA:increased expression:heart left ventricle RGD PMID:16272201 RGD:1580154 NCBI chr 1:129,034,972...129,050,439
Ensembl chr 1:132,664,948...132,679,327 		JBrowse link
G NPY neuropeptide Y ISO in dialysis patients with a NPY receptor Y2 mutation RGD PMID:20543711 RGD:7175091 NCBI chr 7:24,963,056...24,970,803
Ensembl chr 7:24,568,041...24,574,657 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO associated with Hypertension RGD PMID:22990325 RGD:11035227 NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731 		JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 treatment ISO associated with morphine dependence RGD PMID:22304485 RGD:401965468 NCBI chr 4:140,418,624...140,785,180
Ensembl chr 4:152,108,508...152,430,298 		JBrowse link
G PAMR1 peptidase domain containing associated with muscle regeneration 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chr11:35,404,636...35,498,705
Ensembl chr11:35,279,225...35,373,862 		JBrowse link
G PBRM1 polybromo 1 ISO associated with Hypertension;protein:increased expression:heart left ventricle RGD PMID:23702776 RGD:9586349 NCBI chr 3:52,487,083...52,626,418
Ensembl chr 3:53,718,051...53,850,146 		JBrowse link
G PDE1A phosphodiesterase 1A ISO RGD PMID:12834273 RGD:2312523 NCBI chr2B:69,407,511...69,798,513
Ensembl chr2B:187,215,046...187,604,948 		JBrowse link
G PDE2A phosphodiesterase 2A ISO RGD PMID:12834273 RGD:2312523 NCBI chr11:67,653,335...67,753,450
Ensembl chr11:70,875,552...70,975,322 		JBrowse link
G PDE3A phosphodiesterase 3A ISO RGD PMID:12834273 RGD:2312523 NCBI chr12:20,380,213...20,690,540
Ensembl chr12:20,763,999...21,064,391 		JBrowse link
G PLAU plasminogen activator, urokinase ISO RGD PMID:15631996 RGD:7241205 NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35218467 NCBI chr11:838,339...844,035
Ensembl chr11:881,934...886,896 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO DNA:snp:intron: (human) RGD PMID:11864924 RGD:1580229 Ensembl chr22:45,218,364...45,302,970 JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO associated with Hypertension RGD PMID:18360056 RGD:2301893 NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:increased expression:heart (mouse) RGD PMID:18802029 RGD:7297042 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:9568714 PMID:15336966 PMID:18344631 RGD:1579951 RGD:1579956 NCBI chr 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394 		JBrowse link
G PPP3CB protein phosphatase 3 catalytic subunit beta ISO RGD PMID:9568714 PMID:16688406 RGD:1579956 RGD:1580706 NCBI chr10:69,984,241...70,043,352
Ensembl chr10:72,443,051...72,501,752 		JBrowse link
G PPP3R1 protein phosphatase 3 regulatory subunit B, alpha ISO CTD Direct Evidence: marker/mechanism
DNA:insertion/deletion:promoter:		 CTD
RGD		 PMID:16209992 PMID:16688406 PMID:18344631 RGD:1580706 RGD:1580708 NCBI chr2A:68,227,282...68,300,482 JBrowse link
G PPP5C protein phosphatase 5 catalytic subunit ISO RGD PMID:20875921 RGD:8693745 NCBI chr19:43,329,680...43,373,282
Ensembl chr19:51,865,317...51,909,027 		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 7:143,143,556...143,463,492
Ensembl chr 7:155,293,748...155,610,078 		JBrowse link
G PRKCA protein kinase C alpha ISO RGD PMID:12619877 RGD:1581273 NCBI chr17:60,246,485...60,747,158
Ensembl chr17:65,454,907...65,947,903 		JBrowse link
G PRKCB protein kinase C beta ISO RGD PMID:16900949 RGD:1581275 NCBI chr16:13,888,936...14,268,759
Ensembl chr16:24,091,289...24,466,203 		JBrowse link
G PRKCD protein kinase C delta ISO RGD PMID:15532718 RGD:1581272 NCBI chr 3:53,104,137...53,135,588
Ensembl chr 3:54,330,328...54,357,910 		JBrowse link
G PRKCZ protein kinase C zeta ISO RGD PMID:16900949 RGD:1581275 NCBI chr 1:763,942...901,531
Ensembl chr 1:1,920,219...2,045,855 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:28522833 RGD:13432569 NCBI chr 6:159,293,016...160,679,106
Ensembl chr 6:164,314,990...165,678,770 		JBrowse link
G PTEN phosphatase and tensin homolog treatment ISO associated with Arteriovenous Fistula RGD PMID:15929827 PMID:22609523 RGD:12801498 RGD:1581281 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:18542928 RGD:2300276 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		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 chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802 		JBrowse link
G PTK2 protein tyrosine kinase 2 ISO associated with Hypertension;protein:increased expression, increased serine and tyrosine phosphorylation:ventricle myocardium RGD PMID:12732587 RGD:729831 NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898 		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 chr 8:26,580,855...26,729,378
Ensembl chr 8:23,869,825...23,932,474 		JBrowse link
G PTN pleiotrophin ISO protein:increased expression:heart left ventricle (rat) RGD PMID:21224495 RGD:10043833 NCBI chr 7:129,184,786...129,300,815
Ensembl chr 7:141,701,430...141,705,623 		JBrowse link
G PTPRF protein tyrosine phosphatase receptor type F ISO CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chr 1:42,878,344...42,923,539
Ensembl chr 1:44,220,991...44,297,647 		JBrowse link
G PYGM glycogen phosphorylase, muscle associated ISO mRNA:increased expression:heart left ventricle, cardiac muscle cell RGD PMID:14618266 RGD:1599987 NCBI chr11:60,101,810...60,115,813
Ensembl chr11:63,443,609...63,457,430 		JBrowse link
G RAC1 Rac family small GTPase 1 ISO RGD PMID:12642504 RGD:1581295 NCBI chr 7:7,039,379...7,068,866 JBrowse link
G RAPGEF3 Rap guanine nucleotide exchange factor 3 ISO protein:increased expression:heart (mouse) RGD PMID:24721545 RGD:9835365 NCBI chr12:40,974,756...40,999,471
Ensembl chr12:41,848,785...41,873,252 		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 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321 		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 chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868 		JBrowse link
G REN renin ISO CTD Direct Evidence: marker/mechanism
protein:decreased activity:plasma (rat)		 CTD
RGD		 PMID:8349331 PMID:18679781 PMID:22796710 RGD:6771379 NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393 		JBrowse link
G RHOA ras homolog family member A ISO RGD PMID:17316608 RGD:1642807 NCBI chr 3:49,282,009...49,339,887 JBrowse link
G ROCK1 Rho associated coiled-coil containing protein kinase 1 ISO RGD PMID:17316608 RGD:1642807 NCBI chr18:14,192,293...14,352,357
Ensembl chr18:17,833,047...17,990,086 		JBrowse link
G ROCK2 Rho associated coiled-coil containing protein kinase 2 ISO RGD PMID:17316608 RGD:1642807 NCBI chr2A:11,167,353...11,331,339
Ensembl chr2A:11,318,370...11,478,986 		JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19289642 NCBI chr17:53,958,807...54,014,752
Ensembl chr17:58,799,069...58,853,653 		JBrowse link
G RYR1 ryanodine receptor 1 susceptibility ISO DAN:SNPs:introns:rs2071090,rs10500279,rs2960321(human) RGD PMID:21828061 RGD:329812015 NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		JBrowse link
G SHC1 SHC adaptor protein 1 ISO RGD PMID:15998704 RGD:1643176 NCBI chr 1:130,310,778...130,323,001
Ensembl chr 1:133,920,532...133,929,008 		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 chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069 		JBrowse link
G SIRT6 sirtuin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35798905 NCBI chr19:3,196,092...3,204,602
Ensembl chr19:4,146,057...4,154,126 		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 chr 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549 		JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO associated with Hypertension RGD PMID:19179646 RGD:6771336 NCBI chr 1:26,359,818...26,418,910
Ensembl chr 1:27,414,937...27,475,089 		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 chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952 		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 chr 7:142,825,864...142,864,159
Ensembl chr 7:154,977,858...155,013,681 		JBrowse link
G STK11 serine/threonine kinase 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19289642 Ensembl chr19:1,188,537...1,210,677 JBrowse link
G TGM2 transglutaminase 2 ISO RGD PMID:12702643 RGD:1302539 NCBI chr20:34,450,845...34,488,106
Ensembl chr20:35,561,819...35,599,042 		JBrowse link
G THRA thyroid hormone receptor alpha ISO associated with Myocardial Infarction;protein:increased expression:heart RGD PMID:17389455 RGD:2314321 NCBI chr17:17,196,459...17,226,263 JBrowse link
G THRB thyroid hormone receptor beta ISO associated with Myocardial Infarction;protein:decreased expression:heart RGD PMID:17389455 RGD:2314321 NCBI chr 3:24,024,025...24,401,024
Ensembl chr 3:24,346,824...24,564,960 		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 chr 1:176,957,298...176,976,033 JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31983221 NCBI chr2B:65,783,512...66,064,618 JBrowse link
G UCN urocortin ISO associated with Hypertension;mRNA:increased expression:heart left ventricle RGD PMID:11087261 RGD:1642796 NCBI chr2A:27,309,458...27,311,268
Ensembl chr2A:27,397,295...27,397,669 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:12172318 RGD:1580350 NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732 		JBrowse link
G XDH xanthine dehydrogenase treatment ISO associated with Renal Insufficiency, Chronic RGD PMID:21719783 RGD:7247645 NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455 		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 chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037 		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:90,600,412...90,610,594
Ensembl chr  X:100,732,311...100,742,280 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15754
    Pathological Conditions, Signs and Symptoms 12239
      Anatomical Pathological Conditions 2563
        Hypertrophy 958
          Cardiomegaly 819
            Left Ventricular Hypertrophy 146
              Fabry Disease, Cardiac Variant 1
paths to the root