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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 IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:22608503 PMID:22610116 PMID:23307537 PMID:25741868 PMID:25790160 More... NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACE angiotensin I converting enzyme treatment
susceptibility		 IEA
EXP
ISO
IDA
IAGP		 CTD Direct Evidence: marker/mechanism
associated with Aortic Coarctation
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 chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO RGD PMID:18544849 RGD:9685455 NCBI chr  X:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle EXP CTD Direct Evidence: marker/mechanism CTD PMID:10601118 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ADAM17 ADAM metallopeptidase domain 17 ISO associated with hypertension RGD PMID:23850346 RGD:13703040 NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732 		JBrowse link
G ADGRL4 adhesion G protein-coupled receptor L4 ISO RGD PMID:22606234 RGD:13838662 NCBI chr 1:78,889,764...79,006,730
Ensembl chr 1:78,889,764...79,282,124 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IEP associated with hypertension, overweight;protein:decreased expression:serum RGD PMID:22053557 RGD:5686385 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G ADRB1 adrenoceptor beta 1 ISO
IEP		 protein:decreased expression:left ventricle: RGD PMID:17143192 PMID:8181801 RGD:7241557, RGD:7241563 NCBI chr10:114,043,866...114,046,904
Ensembl chr10:114,043,866...114,046,904 		JBrowse link
G ADRB2 adrenoceptor beta 2 susceptibility IAGP associated with hypertension;DNA:polymorphism: :p.Q27E RGD PMID:17178264 RGD:1601120 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623 		JBrowse link
G ADRB3 adrenoceptor beta 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17345787 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599 		JBrowse link
G AGER advanced glycosylation end-product specific receptor IEP associated with Renal Insufficiency, Chronic; protein:decreased expression:plasma (human) RGD PMID:21470837 RGD:7243956 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G AGT angiotensinogen EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:10805403 PMID:14644620 PMID:14751847 PMID:18679781 PMID:20837116 More... NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G AGTR1 angiotensin II receptor type 1 susceptibility IAGP associated with hypertension;DNA:polymorphism:3' utr:1166A>C RGD PMID:15612584 RGD:1601151 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008 		JBrowse link
G AGTR2 angiotensin II receptor type 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20467270 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974 		JBrowse link
G AHR aryl hydrocarbon receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:14644620 PMID:31016362 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta treatment ISO RGD PMID:25738576 RGD:13792675 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G ATP5PF ATP synthase peripheral stalk subunit F6 ISO associated with hypertension;protein:increased expression:heart left ventricle (rat) RGD PMID:25900768 RGD:11085539 NCBI chr21:25,724,500...25,735,653
Ensembl chr21:25,716,503...25,735,673 		JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO RGD PMID:18993028 RGD:2316133 NCBI chr 6:33,572,552...33,580,276
Ensembl chr 6:33,572,547...33,580,293 		JBrowse link
G BDKRB1 bradykinin receptor B1 ISO mRNA:increased expression:heart RGD PMID:12489796 RGD:704379 NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967 		JBrowse link
G BDKRB2 bradykinin receptor B2 ISO mRNA:increased expression:heart RGD PMID:12489796 RGD:704379 NCBI chr14:96,204,839...96,244,164
Ensembl chr14:96,204,679...96,244,166 		JBrowse link
G BMP10 bone morphogenetic protein 10 ISO associated with Hypertension;mRNA:increased expression:heart left ventricle RGD PMID:17921333 RGD:2302083 NCBI chr 2:68,860,909...68,871,397
Ensembl chr 2:68,860,909...68,871,397 		JBrowse link
G BRD4 bromodomain containing 4 ISO protein:increased expression:heart: RGD PMID:23939492 RGD:9586348 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G ISO mRNA:increased expression:ventricle (rat) RGD PMID:14615287 RGD:2316207 NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474 		JBrowse link
G CAT catalase ISO protein:decreased expression:heart left ventricle RGD PMID:19298531 RGD:5130755 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CCN2 cellular communication network factor 2 ISO RGD PMID:19707545 RGD:2314476 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CCND2 cyclin D2 ISO protein:increased expression:left ventricle: RGD PMID:26300251 RGD:151664604 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:heart RGD PMID:9321826 RGD:2293630 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CKB creatine kinase B EXP CTD Direct Evidence: marker/mechanism CTD PMID:11406506 NCBI chr14:103,519,667...103,522,830
Ensembl chr14:103,519,667...103,522,833 		JBrowse link
G CKM creatine kinase, M-type EXP CTD Direct Evidence: marker/mechanism CTD PMID:11406506 NCBI chr19:45,306,413...45,322,875
Ensembl chr19:45,306,413...45,322,875 		JBrowse link
G CMA1 chymase 1 IMP
EXP		 human gene in mouse model
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:14620933 PMID:14620933 RGD:5128600 NCBI chr14:24,505,353...24,508,265
Ensembl chr14:24,505,353...24,508,265 		JBrowse link
G COL1A1 collagen type I alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL3A1 collagen type III alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COQ7 coenzyme Q7, hydroxylase ISO associated with Hypertension;protein:altered expression:heart RGD PMID:17130255 RGD:2313649 NCBI chr16:19,067,614...19,083,097
Ensembl chr16:19,067,614...19,080,095 		JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO mRNA:decreased expression:left ventricle (rat) RGD PMID:11087261 RGD:1642796 NCBI chr 7:30,651,942...30,700,103
Ensembl chr 7:30,651,942...30,700,129 		JBrowse link
G CROT carnitine O-octanoyltransferase ISO mRNA:increased expression:heart left ventricle, cardiac muscle cell RGD PMID:14618266 RGD:1599987 NCBI chr 7:87,345,664...87,399,794
Ensembl chr 7:87,345,664...87,399,794 		JBrowse link
G CRP C-reactive protein IEP associated with Lupus Nephritis; protein:increased expression:serum RGD PMID:21076530 RGD:6907433 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CTF1 cardiotrophin 1 IEP associated with hypertension;protein:increased expression:plasma RGD PMID:15716706 RGD:1626411 NCBI chr16:30,895,846...30,903,560
Ensembl chr16:30,896,614...30,903,547 		JBrowse link
G CTNNB1 catenin beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO mRNA:increased expression:cardiac muscle tissue, left ventricle (rat) RGD PMID:19349910 RGD:4145630 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846 		JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 no_association IAGP DNA:transition:5' utr:-344C>T (human) RGD PMID:9494027 PMID:11275936 RGD:4891150, RGD:4891151 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843 		JBrowse link
G DSC2 desmocollin 2 IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600 		JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28611029 PMID:29802319 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G DUSP1 dual specificity phosphatase 1 treatment ISO RGD PMID:19347983 RGD:7771584 NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195 		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 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572 		JBrowse link
G EDN1 endothelin 1 treatment ISO
EXP		 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 chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G EGFR epidermal growth factor receptor ISO RGD PMID:12624003 RGD:1580955 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP Associated with end stage renal disease RGD PMID:21602183 RGD:6906934 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G ESR2 estrogen receptor 2 IAGP RGD PMID:16280269 RGD:1581013 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		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 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO associated with hypertension RGD PMID:16549517 RGD:155663564 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FN1 fibronectin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11181017 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		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 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774 		JBrowse link
G FZD2 frizzled class receptor 2 ISO mRNA:increased expression:heart left ventricle RGD PMID:8762054 RGD:4107053 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GAA alpha glucosidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:11328962 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881 		JBrowse link
G GDF15 growth differentiation factor 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19505289 NCBI chr19:18,386,158...18,389,176
Ensembl chr19:18,374,731...18,389,176 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 treatment
severity		 IEP
ISO		 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 chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556 		JBrowse link
G GSK3A glycogen synthase kinase 3 alpha ISO RGD PMID:17855351 RGD:10401823 NCBI chr19:42,230,190...42,242,602
Ensembl chr19:42,226,225...42,242,625 		JBrowse link
G HBEGF heparin binding EGF like growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9709397 NCBI chr 5:140,332,843...140,346,603
Ensembl chr 5:140,332,843...140,346,603 		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 chr19:589,881...617,159
Ensembl chr19:589,881...617,159 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO mRNA,protein:increased expression:myocyte: RGD PMID:19471099 RGD:9693689 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958 		JBrowse link
G HRH2 histamine receptor H2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30310171 NCBI chr 5:175,658,071...175,710,756
Ensembl chr 5:175,658,030...175,710,756 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 susceptibility IAGP DNA:SNP:5'utr: (rs846910) (human) RGD PMID:21402901 RGD:329901915 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949 		JBrowse link
G JPH2 junctophilin 2 IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188 		JBrowse link
G JUP junction plakoglobin IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO RGD PMID:18802029 RGD:7297042 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		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 1:215,005,542...215,237,090
Ensembl chr 1:215,005,775...215,237,090 		JBrowse link
G LEPR leptin receptor ISO RGD PMID:18469142 RGD:5129122 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G LIFR LIF receptor subunit alpha ISO RGD PMID:15786720 RGD:1581858 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LOC126861898 BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:23,424,400...23,425,599 JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:19298531 RGD:5130755 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MEF2C myocyte enhancer factor 2C ISO RGD PMID:20041152 RGD:5131608 NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257 		JBrowse link
G MIR133A2 microRNA 133a-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chr20:62,564,912...62,565,013
Ensembl chr20:62,564,912...62,565,013 		JBrowse link
G MIR30A microRNA 30a IEP RGD PMID:23326547 RGD:11561904 NCBI chr 6:71,403,551...71,403,621
Ensembl chr 6:71,403,551...71,403,621 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO associated with Hypertension, Renovascular RGD PMID:23073243 RGD:8657108 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:25664255 RGD:14696732 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19289642 PMID:15367823 RGD:1582609 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:16199542 PMID:16715312 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472269 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951 		JBrowse link
G MYH6 myosin heavy chain 6 treatment ISO RGD PMID:17592507 PMID:2950137 RGD:12792940, RGD:12792943 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 ISO
IAGP		 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 chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYL3 myosin light chain 3 IAGP ClinVar Annotator: match by term: Increased left ventricular wall thickness ClinVar PMID:16754800 PMID:22958901 PMID:23549607 PMID:24111713 PMID:25132132 More... NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,110...46,882,178 		JBrowse link
G MYPN myopalladin IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:25741868 PMID:28492532 PMID:29447731 PMID:30847666 PMID:31110529 More... NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NCL nucleolin ISO protein:increased expression:heart RGD PMID:24608397 RGD:9686390 NCBI chr 2:231,453,531...231,464,484
Ensembl chr 2:231,453,531...231,483,641 		JBrowse link
G NEXN nexilin F-actin binding protein IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:24033266 PMID:28492532 PMID:33029862 NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895 		JBrowse link
G NFATC3 nuclear factor of activated T cells 3 ISO RGD PMID:9568714 RGD:1579956 NCBI chr16:68,085,370...68,229,259
Ensembl chr16:68,084,751...68,229,259 		JBrowse link
G NFATC4 nuclear factor of activated T cells 4 IMP human gene in a mouse model RGD PMID:9568714 RGD:1579956 NCBI chr14:24,366,911...24,379,604
Ensembl chr14:24,365,673...24,379,604 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA, protein:altered expression:cardiac myocyte (rat) RGD PMID:9747440 RGD:7794715 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NOX4 NADPH oxidase 4 ISO associated with hypertension RGD PMID:23850346 RGD:13703040 NCBI chr11:89,324,353...89,589,557
Ensembl chr11:89,324,353...89,498,187 		JBrowse link
G NPPA natriuretic peptide A ISO
EXP		 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 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345 		JBrowse link
G NPPB natriuretic peptide B treatment IEP
ISO		 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 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945 		JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO mRNA:increased expression:heart left ventricle RGD PMID:16272201 RGD:1580154 NCBI chr 1:153,678,688...153,693,992
Ensembl chr 1:153,678,688...153,693,992 		JBrowse link
G NPY neuropeptide Y IEP in dialysis patients with a NPY receptor Y2 mutation RGD PMID:20543711 RGD:7175091 NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO associated with Hypertension RGD PMID:22990325 RGD:11035227 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668 		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 4:148,078,764...148,445,508
Ensembl chr 4:148,078,762...148,444,698 		JBrowse link
G PAMR1 peptidase domain containing associated with muscle regeneration 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chr11:35,431,827...35,530,300
Ensembl chr11:35,431,823...35,530,300 		JBrowse link
G PBRM1 polybromo 1 ISO associated with Hypertension;protein:increased expression:heart left ventricle RGD PMID:23702776 RGD:9586349 NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917 		JBrowse link
G PDE1A phosphodiesterase 1A ISO RGD PMID:12834273 RGD:2312523 NCBI chr 2:182,140,041...182,716,797
Ensembl chr 2:182,139,968...182,523,359 		JBrowse link
G PDE2A phosphodiesterase 2A ISO RGD PMID:12834273 RGD:2312523 NCBI chr11:72,576,141...72,674,422
Ensembl chr11:72,576,141...72,674,591 		JBrowse link
G PDE3A phosphodiesterase 3A ISO RGD PMID:12834273 RGD:2312523 NCBI chr12:20,368,537...20,688,583
Ensembl chr12:20,368,537...20,688,583 		JBrowse link
G PLAU plasminogen activator, urokinase ISO RGD PMID:15631996 RGD:7241205 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35218467 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha IAGP DNA:snp:intron: (human) RGD PMID:11864924 RGD:1580229 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO associated with Hypertension RGD PMID:18360056 RGD:2301893 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:increased expression:heart (mouse) RGD PMID:18802029 RGD:7297042 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18344631 PMID:9568714 RGD:1579956 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278 		JBrowse link
G PPP3CB protein phosphatase 3 catalytic subunit beta IDA
ISO		 RGD PMID:16688406 PMID:9568714 RGD:1580706, RGD:1579956 NCBI chr10:73,436,433...73,496,024
Ensembl chr10:73,436,433...73,496,024 		JBrowse link
G PPP3R1 protein phosphatase 3 regulatory subunit B, alpha IDA
EXP
IAGP		 CTD Direct Evidence: marker/mechanism
DNA:insertion/deletion:promoter:		 CTD
RGD		 PMID:18344631 PMID:16688406 PMID:16209992 RGD:1580706, RGD:1580708 NCBI chr 2:68,178,857...68,252,532
Ensembl chr 2:68,178,857...68,256,237 		JBrowse link
G PPP5C protein phosphatase 5 catalytic subunit ISO RGD PMID:20875921 RGD:8693745 NCBI chr19:46,347,087...46,390,975
Ensembl chr19:46,347,087...46,392,981 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214 		JBrowse link
G PRKCA protein kinase C alpha ISO RGD PMID:12619877 RGD:1581273 NCBI chr17:66,302,613...66,810,743
Ensembl chr17:66,302,613...66,810,743 		JBrowse link
G PRKCB protein kinase C beta ISO RGD PMID:16900949 RGD:1581275 NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611 		JBrowse link
G PRKCD protein kinase C delta ISO RGD PMID:15532718 RGD:1581272 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G PRKCZ protein kinase C zeta ISO RGD PMID:16900949 RGD:1581275 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:28522833 RGD:13432569 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G PTEN phosphatase and tensin homolog treatment ISO associated with Arteriovenous Fistula RGD PMID:15929827 PMID:22609523 RGD:1581281, RGD:12801498 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:18542928 RGD:2300276 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G PTH parathyroid hormone treatment IEP
IDA		 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 chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		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 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216 		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 8:27,310,506...27,459,391
Ensembl chr 8:27,311,482...27,459,391 		JBrowse link
G PTN pleiotrophin ISO protein:increased expression:heart left ventricle (rat) RGD PMID:21224495 RGD:10043833 NCBI chr 7:137,227,341...137,343,733
Ensembl chr 7:137,227,341...137,343,774 		JBrowse link
G PTPRF protein tyrosine phosphatase receptor type F EXP CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chr 1:43,522,051...43,623,666
Ensembl chr 1:43,525,187...43,623,666 		JBrowse link
G PYGM glycogen phosphorylase, muscle associated ISO mRNA:increased expression:heart left ventricle, cardiac muscle cell RGD PMID:14618266 RGD:1599987 NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974 		JBrowse link
G RAC1 Rac family small GTPase 1 ISO RGD PMID:12642504 RGD:1581295 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967 		JBrowse link
G RAPGEF3 Rap guanine nucleotide exchange factor 3 ISO protein:increased expression:heart (mouse) RGD PMID:24721545 RGD:9835365 NCBI chr12:47,734,363...47,758,880
Ensembl chr12:47,734,363...47,771,040 		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 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		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 chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090 		JBrowse link
G REN renin ISO
EXP		 protein:decreased activity:plasma (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:8349331 PMID:18679781 PMID:22796710 RGD:6771379 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324 		JBrowse link
G RHOA ras homolog family member A ISO RGD PMID:17316608 RGD:1642807 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998 		JBrowse link
G ROCK1 Rho associated coiled-coil containing protein kinase 1 ISO RGD PMID:17316608 RGD:1642807 NCBI chr18:20,946,906...21,111,813
Ensembl chr18:20,944,612...21,111,813 		JBrowse link
G ROCK2 Rho associated coiled-coil containing protein kinase 2 ISO RGD PMID:17316608 RGD:1642807 NCBI chr 2:11,179,759...11,345,437
Ensembl chr 2:11,179,759...11,348,330 		JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19289642 NCBI chr17:59,893,121...59,950,574
Ensembl chr17:59,893,046...59,950,574 		JBrowse link
G RYR1 ryanodine receptor 1 susceptibility IAGP DAN:SNPs:introns:rs2071090,rs10500279,rs2960321(human) RGD PMID:21828061 RGD:329812015 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SHC1 SHC adaptor protein 1 ISO RGD PMID:15998704 RGD:1643176 NCBI chr 1:154,962,298...154,974,376
Ensembl chr 1:154,962,298...154,974,395 		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:19142216 PMID:18192848 RGD:9495934, RGD:2293330 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390 		JBrowse link
G SIRT6 sirtuin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35798905 NCBI chr19:4,174,109...4,182,563
Ensembl chr19:4,174,109...4,182,566 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IEP
IAGP		 ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar
RGD		 PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... RGD:1580618 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO associated with Hypertension RGD PMID:19179646 RGD:6771336 NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO associated with Hypertension;protein:increased expression:heart left ventricle RGD PMID:23702776 RGD:9586349 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 ISO associated with Hypertension;protein:increased expression:heart left ventricle RGD PMID:23702776 RGD:9586349 NCBI chr 7:151,238,780...151,277,149
Ensembl chr 7:151,238,764...151,277,896 		JBrowse link
G STK11 serine/threonine kinase 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19289642 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G TGM2 transglutaminase 2 ISO RGD PMID:12702643 RGD:1302539 NCBI chr20:38,127,385...38,168,475
Ensembl chr20:38,127,385...38,166,578 		JBrowse link
G THRA thyroid hormone receptor alpha ISO associated with Myocardial Infarction;protein:increased expression:heart RGD PMID:17389455 RGD:2314321 NCBI chr17:40,062,193...40,093,867
Ensembl chr17:40,058,290...40,093,867 		JBrowse link
G THRB thyroid hormone receptor beta ISO associated with Myocardial Infarction;protein:decreased expression:heart RGD PMID:17389455 RGD:2314321 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP 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 chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31983221 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Left ventricular hypertrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31983221 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G UCN urocortin ISO associated with Hypertension;mRNA:increased expression:heart left ventricle RGD PMID:11087261 RGD:1642796 NCBI chr 2:27,307,400...27,308,445
Ensembl chr 2:27,307,400...27,308,445 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 IEP RGD PMID:12172318 RGD:1580350 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045 		JBrowse link
G XDH xanthine dehydrogenase treatment IMP associated with Renal Insufficiency, Chronic RGD PMID:21719783 RGD:7247645 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742 		JBrowse link
G XRCC3 X-ray repair cross complementing 3 susceptibility IAGP associated with hypertension; DNA:SNP:exon 7: p.T241M (rs861539) (Human) RGD PMID:29626209 RGD:401827272 NCBI chr14:103,697,617...103,715,451
Ensembl chr14:103,697,609...103,715,504 		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 IAGP ClinVar Annotator: match by term: Fabry disease, cardiac variant ClinVar PMID:105759 PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 More... NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough IAGP ClinVar Annotator: match by term: Fabry disease, cardiac variant ClinVar PMID:105759 PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 More... NCBI chr  X:101,391,011...101,414,133
Ensembl chr  X:101,391,011...101,412,297 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97544
    Pathological Conditions, Signs and Symptoms 53728
      Anatomical Pathological Conditions 4172
        Hypertrophy 1395
          Cardiomegaly 1105
            Left Ventricular Hypertrophy 155
              Fabry Disease, Cardiac Variant 2
paths to the root