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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:Right Ventricular Hypertrophy
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Accession:DOID:9006102 term browser browse the term
Definition:Enlargement of the RIGHT VENTRICLE of the heart. This increase in ventricular mass is often attributed to PULMONARY HYPERTENSION and is a contributor to cardiovascular morbidity and mortality.
Synonyms:exact_synonym: Right Ventricular Hypertrophies;   hypertrophy of right ventricle
 primary_id: MESH:D017380
 alt_id: RDO:0007043


show annotations for term's descendants           Sort by:
Right Ventricular Hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme IEP associated with Hypertension;protein:increased activity:heart right ventricle (rat) RGD PMID:7585810 RGD:8142368 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 treatment IDA RGD PMID:21357504 RGD:10041003 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP associated with Pulmonary Arterial Hypertension RGD PMID:26959484 RGD:329969898 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Car9 carbonic anhydrase 9 IEP associated with Anoxia;protein:increased expression:heart right ventricle RGD PMID:16714773 RGD:2293204 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838 		JBrowse link
G Cdh5 cadherin 5 IEP protein:decreased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368 		JBrowse link
G Csrp3 cysteine and glycine rich protein 3 IEP RGD PMID:11113014 RGD:1598503 NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653 		JBrowse link
G Ctnnd1 catenin delta 1 treatment IEP RGD PMID:25593290 RGD:38500244 NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment IMP RGD PMID:21294880 RGD:6480473 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Egfr epidermal growth factor receptor treatment IMP RGD PMID:31264901 RGD:38599217 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Eng endoglin ISO RGD PMID:20042709 RGD:11041178 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Right ventricular hypertrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707 		JBrowse link
G Gh1 growth hormone 1 treatment ISO associated with Aortic Valve Stenosis RGD PMID:20060348 RGD:9686081 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: therapeutic CTD PMID:36720419 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 IEP protein:increased activity:heart right ventricel (rat) RGD PMID:23124027 RGD:13792786 NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582 		JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 IEP protein:increased expression:heart right ventricle RGD PMID:12955401 RGD:5132894 NCBI chr16:32,917,448...32,920,791
Ensembl chr16:32,917,823...32,919,891 		JBrowse link
G Hdac1 histone deacetylase 1 IEP protein:increased expression:Right Ventricular: RGD PMID:22711276 RGD:9590133 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111 		JBrowse link
G Hdac5 histone deacetylase 5 IEP protein:increased expression:Right Ventricular: RGD PMID:22711276 RGD:9590133 NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235 		JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:12230867 PMID:14587309 RGD:1598397, RGD:1598408 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Htr1b 5-hydroxytryptamine receptor 1B ISO RGD PMID:11739290 RGD:1626449 NCBI chr 8:82,513,572...82,534,670
Ensembl chr 8:82,517,360...82,534,549 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment IEP RGD PMID:10090325 RGD:12904918 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor treatment IDA RGD PMID:10090325 RGD:12904918 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Il6 interleukin 6 treatment IEP associated with pulmonary arterial hypertension RGD PMID:26959484 RGD:329969898 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Jup junction plakoglobin ISO Naxos disease, OMIM:601214 RGD PMID:10902626 RGD:1600286 NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 treatment IEP associated with Pulmonary Arterial Hypertension RGD PMID:26959484 RGD:329969898 NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340 		JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30689673 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Me1 malic enzyme 1 IEP mRNA:increased expression:right ventricle RGD PMID:23794090 RGD:151361111 NCBI chr 8:87,549,043...87,660,251
Ensembl chr 8:87,549,043...87,660,304 		JBrowse link
G Me2 malic enzyme 2 IEP mRNA:increased expression:right and right ventricles RGD PMID:23794090 RGD:151361111 NCBI chr18:67,350,833...67,400,987
Ensembl chr18:67,355,795...67,400,987 		JBrowse link
G Med13 mediator complex subunit 13 IEP associated with Hypertension, Pulmonary RGD PMID:25287062 RGD:9681715 NCBI chr10:71,086,978...71,176,535
Ensembl chr10:71,090,516...71,177,242 		JBrowse link
G Mir20a microRNA 20a ISO CTD Direct Evidence: marker/mechanism CTD PMID:32720422 NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168 		JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP associated with Hypertension, Pulmonary; protein:increased expression:heart RGD PMID:17913382 RGD:5130174 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP associated with Hypertension, Pulmonary; protein:increased expression:heart RGD PMID:17913382 RGD:5130174 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment IMP RGD PMID:21357504 RGD:10041003 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Mtpn myotrophin IEP RGD PMID:10329199 RGD:1581047 NCBI chr 4:64,159,273...64,186,686
Ensembl chr 4:64,157,641...64,186,724 		JBrowse link
G Myh4 myosin heavy chain 4 IEP associated with Heart Failure;protein:decreased expression:diaphragm RGD PMID:25060722 RGD:9686065 NCBI chr10:51,923,149...51,946,297
Ensembl chr10:51,885,913...51,946,295 		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 Nos1 nitric oxide synthase 1 IDA RGD PMID:17913382 RGD:5130174 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Nos3 nitric oxide synthase 3 treatment IDA associated with Hypertension, Pulmonary RGD PMID:22022327 RGD:7794708 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nppa natriuretic peptide A IDA RGD PMID:2136863 RGD:7247720 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351 		JBrowse link
G Nrf1 nuclear respiratory factor 1 IEP mRNA:increased expression:hear right ventricle RGD PMID:17704287 RGD:2302404 NCBI chr 4:58,664,932...58,772,328
Ensembl chr 4:58,664,957...58,825,328 		JBrowse link
G Pde5a phosphodiesterase 5A IMP
ISO		 mRNA, protein:increased expression:myocardium RGD PMID:17606845 PMID:17606845 RGD:2314467, RGD:2314467 NCBI chr 2:210,858,515...211,003,480
Ensembl chr 2:210,858,063...210,999,701 		JBrowse link
G Plat plasminogen activator, tissue type IEP protein:increased expression:heart right ventricle, heart left ventricle (rat) RGD PMID:9405184 RGD:11080746 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP protein:decreased expression:heart right ventricle (rat) RGD PMID:23152488 RGD:7242015 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
IDA		 RGD PMID:9568714 PMID:16799071 RGD:1579956, RGD:1580700 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 IDA
ISO		 RGD PMID:16496058 PMID:9568714 RGD:1580703, RGD:1579956 NCBI chr15:3,759,950...3,804,976
Ensembl chr15:3,760,030...3,804,981 		JBrowse link
G Prkca protein kinase C, alpha IDA RGD PMID:15532718 RGD:1581272 NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012 		JBrowse link
G Prkcd protein kinase C, delta IDA RGD PMID:15532718 RGD:1581272 NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352 		JBrowse link
G Ptk2 protein tyrosine kinase 2 IEP associated with Hypertension, Pulmonary;protein:increased phosphorylation:ventricle myocardium RGD PMID:17913382 RGD:5130174 NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Right ventricular hypertrophy ClinVar PMID:11992261 PMID:12325025 PMID:12634870 PMID:12717436 PMID:12960218 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rfc1 replication factor C subunit 1 IEP protein:increased expression:heart right ventricle (rat) RGD PMID:22720015 RGD:401940165 NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 IEP mRNA:increased expression:right ventricle RGD PMID:23794090 RGD:151361111 NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952 		JBrowse link
G Slc39a12 solute carrier family 39 member 12 severity IMP RGD PMID:26258299 PMID:26258299 RGD:10401832, RGD:10401832 NCBI chr17:77,353,761...77,440,384
Ensembl chr17:77,353,805...77,440,353 		JBrowse link
G Slc39a12em77Tja solute carrier family 39 (zinc transporter), member 12; zinc finger nuclease induced mutant 77, Timothy J. Aitman severity IMP RGD PMID:26258299 PMID:26258299 RGD:10401832, RGD:10401832
G Slc7a5 solute carrier family 7 member 5 IEP mRNA:increased expression:right and left ventricles RGD PMID:23794090 RGD:151361111 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 IEP mRNA:increased expression:right ventricle myocardium RGD PMID:22588937 RGD:6771239 NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624 		JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18424623 NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP protein:increased expression:pulmonary artery RGD PMID:17213961 RGD:1601553 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tnf tumor necrosis factor treatment IEP associated with Pulmonary Arterial Hypertension RGD PMID:26959484 RGD:329969898 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 treatment IEP RGD PMID:25593290 RGD:38500244 NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653 		JBrowse link
G Ucp2 uncoupling protein 2 IEP RGD PMID:17704287 RGD:2302404 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611 		JBrowse link
G Ucp3 uncoupling protein 3 IEP mRNA:decreased expression:heart right ventricle RGD PMID:17704287 RGD:2302404 NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762 		JBrowse link
G Vegfa vascular endothelial growth factor A treatment IEP associated with Pulmonary arterial hypertension RGD PMID:26959484 RGD:329969898 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
Congenital Heart Defects, Multiple Types, 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 OMIM
ClinVar		 PMID:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 More... NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770 		JBrowse link
Hypertelorism and Tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:20022194 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Bmp10 bone morphogenetic protein 10 ISS OMIM:187500 MouseDO NCBI chr 4:119,872,066...119,877,694
Ensembl chr 4:119,872,045...119,878,627 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788 		JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:25741868 PMID:28492532 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519 		JBrowse link
G Cfc1 cripto, FRL-1, cryptic family 1 ISO DNA:hypermethylation:promoter: RGD PMID:24479926 RGD:155226880 NCBI chr 9:36,742,106...36,751,931
Ensembl chr 9:36,739,071...36,751,930 		JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISS OMIM:187500 MouseDO NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897 		JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISS OMIM:187500 MouseDO NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890 		JBrowse link
G Dock1 dedicator of cyto-kinesis 1 ISS OMIM:187500 MouseDO NCBI chr 1:189,467,143...189,983,777
Ensembl chr 1:189,467,143...189,983,768 		JBrowse link
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISS OMIM:187500 MouseDO NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770 		JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737 		JBrowse link
G Foxh1 forkhead box H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049 		JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot		 OMIM
CTD
ClinVar		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 More... NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Gata5 GATA binding protein 5 ISO DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) RGD PMID:23289003 RGD:155260350 NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751 		JBrowse link
G Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tetralogy of Fallot		 OMIM
CTD
ClinVar		 PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947 NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G Gdf1 growth differentiation factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tetralogy of Fallot		 CTD
ClinVar		 PMID:17924340 PMID:25741868 PMID:28492532 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO RGD PMID:16010294 RGD:1582666 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Gja5 gap junction protein, alpha 5 ISO
ISS		 DNA:duplications
OMIM:187500		 MouseDO
RGD		 PMID:22199024 RGD:7207464 NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952 		JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr16:32,917,448...32,920,791
Ensembl chr16:32,917,823...32,919,891 		JBrowse link
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 ISS OMIM:187500 MouseDO NCBI chr 1:26,822,131...26,832,218
Ensembl chr 1:26,822,131...26,832,218 		JBrowse link
G Hira histone cell cycle regulator ISO mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529 		JBrowse link
G Invs inversin ISS OMIM:187500 MouseDO NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350 		JBrowse link
G Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 More... RGD:1582344 NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISS OMIM:187500 MouseDO NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO
ISS		 DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
OMIM:187500
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... RGD:1581133 NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Nrp1 neuropilin 1 susceptibility ISO DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chr19:56,359,455...56,514,628
Ensembl chr19:56,359,455...56,513,633 		JBrowse link
G Ntf3 neurotrophin 3 ISS OMIM:187500 MouseDO NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596 		JBrowse link
G Phc1 polyhomeotic homolog 1 ISS OMIM:187500 MouseDO NCBI chr 4:155,510,274...155,532,636
Ensembl chr 4:155,510,274...155,533,959 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 susceptibility ISO DNA:snp:intron:c.757-4333A>G (rs11066320) (human) RGD PMID:22503907 RGD:12743641 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Fallot tetralogy ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 PMID:28592524 PMID:29194579 PMID:35227688 NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More... NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Tbx20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter
mRNA:increased expression:heart (human)		 RGD PMID:31138201 PMID:18275040 RGD:155882584, RGD:155882585 NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO
ISS		 OMIM:187500
CTD Direct Evidence: marker/mechanism
DNA,mRNA:hypermethylation,decreased expression:promoter,heart:
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot		 MouseDO
CTD
ClinVar
OMIM
RGD		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... RGD:1580641, RGD:155882486 NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    Pathological Conditions, Signs and Symptoms 13511
      Anatomical Pathological Conditions 2737
        Hypertrophy 1086
          Cardiomegaly 942
            Right Ventricular Hypertrophy 116
              tetralogy of Fallot + 48
paths to the root