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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 (peptidyl-dipeptidase A) 1 ISO associated with Hypertension;protein:increased activity:heart right ventricle (rat) RGD PMID:7585810 RGD:8142368 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 treatment ISO RGD PMID:21357504 RGD:10041003
G BAX BCL2 associated X, apoptosis regulator treatment ISO associated with Pulmonary Arterial Hypertension RGD PMID:26959484 RGD:329969898 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140 		JBrowse link
G CA9 carbonic anhydrase 9 ISO associated with Anoxia;protein:increased expression:heart right ventricle RGD PMID:16714773 RGD:2293204 NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,394,306...236,400,822 		JBrowse link
G CDH5 cadherin 5 ISO protein:decreased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 6:27,108,560...27,142,145
Ensembl chr 6:27,108,597...27,142,177 		JBrowse link
G CSRP3 cysteine and glycine rich protein 3 ISO RGD PMID:11113014 RGD:1598503 NCBI chr 2:40,219,288...40,240,614
Ensembl chr 2:40,215,353...40,240,616 		JBrowse link
G CTNND1 catenin delta 1 treatment ISO RGD PMID:25593290 RGD:38500244 NCBI chr 2:13,143,604...13,209,251
Ensembl chr 2:13,154,338...13,209,250 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:21294880 RGD:6480473 NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232 		JBrowse link
G EGFR epidermal growth factor receptor treatment ISO RGD PMID:31264901 RGD:38599217 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589 		JBrowse link
G ENG endoglin ISO RGD PMID:20042709 RGD:11041178 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783 		JBrowse link
G GJA1 gap junction protein alpha 1 ISO CTD Direct Evidence: therapeutic CTD PMID:36720419 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO protein:increased activity:heart right ventricel (rat) RGD PMID:23124027 RGD:13792786 NCBI chr 2:5,209,435...5,227,543
Ensembl chr 2:5,209,439...5,227,758 		JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 ISO protein:increased expression:heart right ventricle RGD PMID:12955401 RGD:5132894 NCBI chr14:16,460,089...16,462,979
Ensembl chr14:16,459,971...16,462,207 		JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:Right Ventricular: RGD PMID:22711276 RGD:9590133 NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,411 		JBrowse link
G HDAC5 histone deacetylase 5 ISO protein:increased expression:Right Ventricular: RGD PMID:22711276 RGD:9590133 NCBI chr12:19,077,910...19,119,463
Ensembl chr12:19,078,005...19,121,154 		JBrowse link
G HMOX1 heme oxygenase 1 ISO RGD PMID:12230867 PMID:14587309 RGD:1598397 RGD:1598408
G HTR1B 5-hydroxytryptamine receptor 1B ISO RGD PMID:11739290 RGD:1626449 NCBI chr 1:88,597,510...88,598,682
Ensembl chr 1:88,596,237...88,601,757 		JBrowse link
G IGF1 insulin like growth factor 1 treatment ISO RGD PMID:10090325 RGD:12904918 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033 		JBrowse link
G IGF1R insulin like growth factor 1 receptor treatment ISO RGD PMID:10090325 RGD:12904918 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058 		JBrowse link
G IL6 interleukin 6 treatment ISO associated with pulmonary arterial hypertension RGD PMID:26959484 RGD:329969898 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G JUP junction plakoglobin ISO Naxos disease, OMIM:601214 DNA:deletion:CDS:2157delTG RGD PMID:10902626 RGD:1600286 NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210 		JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 treatment ISO associated with Pulmonary Arterial Hypertension RGD PMID:26959484 RGD:329969898 NCBI chr 6:50,580,016...50,593,518
Ensembl chr 6:50,580,022...50,593,544 		JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30689673 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995 		JBrowse link
G ME1 malic enzyme 1 ISO mRNA:increased expression:right ventricle RGD PMID:23794090 RGD:151361111 NCBI chr 1:82,799,878...82,989,895
Ensembl chr 1:82,799,684...82,991,085 		JBrowse link
G ME2 malic enzyme 2 ISO mRNA:increased expression:right and right ventricles RGD PMID:23794090 RGD:151361111 NCBI chr 1:100,419,404...100,475,778
Ensembl chr 1:100,419,760...100,476,733 		JBrowse link
G MED13 mediator complex subunit 13 ISO associated with Hypertension, Pulmonary RGD PMID:25287062 RGD:9681715 NCBI chr12:36,333,741...36,430,740
Ensembl chr12:36,333,191...36,429,291 		JBrowse link
G MIR20A microRNA mir-20a ISO CTD Direct Evidence: marker/mechanism CTD PMID:32720422 NCBI chr11:60,735,109...60,735,179
Ensembl chr11:60,735,099...60,735,196 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO associated with Hypertension, Pulmonary; protein:increased expression:heart RGD PMID:17913382 RGD:5130174 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO associated with Hypertension, Pulmonary; protein:increased expression:heart RGD PMID:17913382 RGD:5130174 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MTOR mechanistic target of rapamycin kinase treatment ISO RGD PMID:21357504 RGD:10041003 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888 		JBrowse link
G MTPN myotrophin ISO RGD PMID:10329199 RGD:1581047 NCBI chr18:13,330,049...13,395,297
Ensembl chr18:13,330,029...13,395,460 		JBrowse link
G MYH4 myosin, heavy chain 4, skeletal muscle ISO associated with Heart Failure;protein:decreased expression:diaphragm RGD PMID:25060722 RGD:9686065 NCBI chr12:55,190,545...55,216,294
Ensembl chr12:55,190,433...55,212,813 		JBrowse link
G NFATC3 nuclear factor of activated T cells 3 ISO RGD PMID:9568714 RGD:1579956 NCBI chr 6:28,666,458...28,806,432
Ensembl chr 6:28,666,549...28,806,419 		JBrowse link
G NFATC4 nuclear factor of activated T cells 4 ISO human gene in a mouse model RGD PMID:9568714 RGD:1579956 NCBI chr 7:74,918,982...74,929,688
Ensembl chr 7:74,918,984...74,929,600 		JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:17913382 RGD:5130174 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944 		JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO associated with Hypertension, Pulmonary RGD PMID:22022327 RGD:7794708 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G NPPA natriuretic peptide A ISO RGD PMID:2136863 RGD:7247720 NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,918,845...71,921,405 		JBrowse link
G NRF1 nuclear respiratory factor 1 ISO mRNA:increased expression:hear right ventricle RGD PMID:17704287 RGD:2302404 NCBI chr18:19,008,408...19,142,678
Ensembl chr18:18,998,930...19,142,628 		JBrowse link
G PDE5A phosphodiesterase 5A ISO mRNA, protein:increased expression:myocardium RGD PMID:17606845 RGD:2314467 NCBI chr 8:104,270,858...104,420,955
Ensembl chr 8:104,270,881...104,420,953 		JBrowse link
G PLAT plasminogen activator, tissue type ISO protein:increased expression:heart right ventricle, heart left ventricle (rat) RGD PMID:9405184 RGD:11080746 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO protein:decreased expression:heart right ventricle (rat) RGD PMID:23152488 RGD:7242015 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:9568714 PMID:16799071 RGD:1579956 RGD:1580700 NCBI chr 8:119,429,181...119,754,615
Ensembl chr 8:119,428,779...119,753,105 		JBrowse link
G PPP3CB protein phosphatase 3 catalytic subunit beta ISO RGD PMID:9568714 PMID:16496058 RGD:1579956 RGD:1580703 NCBI chr14:76,239,497...76,305,345
Ensembl chr14:76,248,841...76,305,328 		JBrowse link
G PRKCA protein kinase C alpha ISO RGD PMID:15532718 RGD:1581272 NCBI chr12:12,882,287...13,268,647
Ensembl chr12:12,882,064...13,263,554 		JBrowse link
G PRKCD protein kinase C delta ISO RGD PMID:15532718 RGD:1581272 NCBI chr13:35,290,835...35,323,245
Ensembl chr13:35,290,610...35,323,356 		JBrowse link
G PTK2 protein tyrosine kinase 2 ISO associated with Hypertension, Pulmonary;protein:increased phosphorylation:ventricle myocardium RGD PMID:17913382 RGD:5130174 NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,614...2,896,054 		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 chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G RFC1 replication factor C subunit 1 ISO protein:increased expression:heart right ventricle (rat) RGD PMID:22720015 RGD:401940165 NCBI chr 8:30,552,369...30,635,932
Ensembl chr 8:30,552,400...30,635,867 		JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO mRNA:increased expression:right ventricle RGD PMID:23794090 RGD:151361111 NCBI chr 6:52,647,432...52,661,464
Ensembl chr 6:52,647,438...52,661,459 		JBrowse link
G SLC39A12 solute carrier family 39 member 12 severity ISO RGD PMID:26258299 RGD:10401832 NCBI chr10:44,239,279...44,320,974
Ensembl chr10:44,239,274...44,320,971 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO mRNA:increased expression:right and left ventricles RGD PMID:23794090 RGD:151361111 NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285 		JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO mRNA:increased expression:right ventricle myocardium RGD PMID:22588937 RGD:6771239 NCBI chr 6:84,373,921...84,426,447
Ensembl chr 6:84,372,649...84,426,997 		JBrowse link
G TGFA transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18424623 NCBI chr 3:71,948,232...72,054,257
Ensembl chr 3:71,948,137...72,050,474 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:increased expression:pulmonary artery RGD PMID:17213961 RGD:1601553 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TNF tumor necrosis factor treatment ISO associated with Pulmonary Arterial Hypertension RGD PMID:26959484 RGD:329969898 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 treatment ISO RGD PMID:25593290 RGD:38500244 NCBI chr 9:88,286,911...88,290,131
Ensembl chr 9:88,289,407...88,290,015 		JBrowse link
G UCP2 uncoupling protein 2 ISO RGD PMID:17704287 RGD:2302404 NCBI chr 9:8,358,559...8,364,552
Ensembl chr 9:8,358,025...8,365,547 		JBrowse link
G UCP3 uncoupling protein 3 ISO mRNA:decreased expression:heart right ventricle RGD PMID:17704287 RGD:2302404 NCBI chr 9:8,378,023...8,389,452
Ensembl chr 9:8,378,021...8,386,211 		JBrowse link
G VEGFA vascular endothelial growth factor A treatment ISO associated with Pulmonary arterial hypertension RGD PMID:26959484 RGD:329969898 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		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 chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126 		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 chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805 		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:24503780 PMID:25741868 PMID:28492532 More... NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778 		JBrowse link
G BMP10 bone morphogenetic protein 10 ISO OMIM:187500 MouseDO NCBI chr 3:73,519,904...73,530,448
Ensembl chr 3:73,519,934...73,529,950 		JBrowse link
G BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr17:57,567,770...57,676,516
Ensembl chr17:57,584,956...57,675,986 		JBrowse link
G CFC1B cryptic, EGF-CFC family member 1B ISO DNA:hypermethylation:promoter: RGD PMID:24479926 RGD:155226880 NCBI chr15:56,943,183...56,951,929 JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO OMIM:187500 MouseDO NCBI chr 1:25,155,652...25,158,517
Ensembl chr 1:25,155,664...25,160,279 		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 chr13:66,194,795...66,203,419
Ensembl chr13:66,194,865...66,203,412 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 ISO OMIM:187500 MouseDO NCBI chr16:3,114,267...3,366,189
Ensembl chr16:3,114,273...3,430,341 		JBrowse link
G DOCK1 dedicator of cytokinesis 1 ISO OMIM:187500 MouseDO NCBI chr14:136,199,747...136,745,488
Ensembl chr14:136,257,807...136,741,882 		JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO OMIM:187500 MouseDO NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248 		JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chr18:19,759,734...19,787,616
Ensembl chr18:19,759,740...19,787,618 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126 		JBrowse link
G FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805 		JBrowse link
G FOXC2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 6:2,552,141...2,555,041
Ensembl chr 6:2,552,862...2,554,367 		JBrowse link
G FOXH1 forkhead box H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 4:320,610...324,570
Ensembl chr 4:322,838...324,481 		JBrowse link
G GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 More... NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,884,662...14,939,941 		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 chr17:61,824,891...61,834,742
Ensembl chr17:61,824,899...61,834,267 		JBrowse link
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947 NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,849...107,314,626 		JBrowse link
G GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:25741868 PMID:28492532 NCBI chr 2:58,972,918...58,976,294
Ensembl chr 2:58,951,726...58,974,672 		JBrowse link
G GJA1 gap junction protein alpha 1 ISO RGD PMID:16010294 RGD:1582666 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156 		JBrowse link
G GJA5 gap junction protein alpha 5 ISO DNA:duplications
OMIM:187500		 RGD
MouseDO		 PMID:22199024 RGD:7207464 NCBI chr 4:99,854,129...99,871,288
Ensembl chr 4:99,854,392...99,871,286 		JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr14:16,460,089...16,462,979
Ensembl chr14:16,459,971...16,462,207 		JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISO OMIM:187500 MouseDO NCBI chr 1:37,219,887...37,231,321
Ensembl chr 1:37,219,883...37,231,385 		JBrowse link
G HIRA histone cell cycle regulator ISO mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409 		JBrowse link
G INVS inversin ISO OMIM:187500 MouseDO NCBI chr 1:241,897,685...242,058,293
Ensembl chr 1:241,897,764...242,059,050 		JBrowse link
G IRX4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr16:78,940,033...78,944,855
Ensembl chr16:78,937,566...78,945,269 		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 OMIM
ClinVar		 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 More... NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641 		JBrowse link
G KDR kinase insert domain receptor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISO OMIM:187500 MouseDO NCBI chr12:34,499,139...34,512,191
Ensembl chr12:34,499,142...34,512,187 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:8,203...8,890
Ensembl chr MT:8,203...8,890 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:9,800...10,583
Ensembl chr MT:9,800...10,583 		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 7:88,471,317...88,533,690
Ensembl chr 7:88,471,414...88,537,387 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G NIPBL NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr16:22,152,455...22,364,373
Ensembl chr16:22,152,469...22,363,821 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,162 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138
G NRP1 neuropilin 1 susceptibility ISO DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chr10:56,280,673...56,430,832
Ensembl chr10:56,280,665...56,430,777 		JBrowse link
G NTF3 neurotrophin 3 ISO OMIM:187500 MouseDO NCBI chr 5:65,052,608...65,122,645
Ensembl chr 5:65,052,519...65,123,788 		JBrowse link
G PHC1 polyhomeotic homolog 1 ISO OMIM:187500 MouseDO NCBI chr 5:62,557,774...62,580,640
Ensembl chr 5:62,557,776...62,580,651 		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 chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		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 chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412 		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 chr13:175,348,223...176,479,482
Ensembl chr13:175,348,410...176,479,481 		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 OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More... NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725 		JBrowse link
G TBX20 T-box transcription factor 20 ISO mRNA:increased expression:heart (human)
DNA:hypomethylation:promoter		 RGD PMID:18275040 PMID:31138201 RGD:155882584 RGD:155882585 NCBI chr18:38,635,603...38,681,690
Ensembl chr18:38,635,617...38,678,133 		JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,986...109,020,035 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,773...32,094,287 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Pathological Conditions, Signs and Symptoms 11803
      Anatomical Pathological Conditions 2455
        Hypertrophy 883
          Cardiomegaly 745
            Right Ventricular Hypertrophy 103
              tetralogy of Fallot + 47
paths to the root