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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:Ventricular Outflow Obstruction
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Accession:DOID:9004319 term browser browse the term
Definition:Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS.
Synonyms:exact_synonym: Ventricular Outflow Obstructions
 primary_id: MESH:D014694
 xref: EFO:1001448

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Ventricular Outflow Obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bambi BMP and activin membrane bound inhibitor ISO RGD PMID:23168040 RGD:14390160 NCBI chrNW_004955429:21,024,396...21,025,890
Ensembl chrNW_004955429:21,024,374...21,025,890 		JBrowse link
G Hoxb1 homeobox B1 ISO RGD PMID:26284287 RGD:11052805 NCBI chrNW_004955451:12,707,560...12,708,950
Ensembl chrNW_004955451:12,707,462...12,709,899 		JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8660453 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419 		JBrowse link
aortic valve disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434 NCBI chrNW_004955513:3,533,612...3,660,605
Ensembl chrNW_004955513:3,533,614...3,658,161 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chrNW_004955436:12,416,147...12,477,214
Ensembl chrNW_004955436:12,415,737...12,480,359 		JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28387797 PMID:28492532 PMID:30675029 NCBI chrNW_004955528:1,595,231...1,604,979
Ensembl chrNW_004955528:1,595,231...1,604,979 		JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:23969418 RGD:12792206 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition OMIM
ClinVar		 PMID:9536098 PMID:15472075 PMID:16025100 PMID:16614245 PMID:16729972 More... NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28492532 PMID:30796334 NCBI chrNW_004955450:9,005,332...9,070,790 JBrowse link
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28553164 More... NCBI chrNW_004955460:7,794,313...7,856,906
Ensembl chrNW_004955460:7,794,313...7,856,906 		JBrowse link
aortic valve stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb1 adrenoceptor beta 1 ISO RGD PMID:1648674 RGD:7241565 NCBI chrNW_004955431:19,025,663...19,027,026 JBrowse link
G Apob apolipoprotein B ISO RGD PMID:11903341 RGD:1578425 NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424 		JBrowse link
G Bambi BMP and activin membrane bound inhibitor ISO protein:increased expression:myocardium: RGD PMID:23168040 RGD:14390160 NCBI chrNW_004955429:21,024,396...21,025,890
Ensembl chrNW_004955429:21,024,374...21,025,890 		JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:10700187 RGD:734918 NCBI chrNW_004955456:321,222...456,431 JBrowse link
G Egr1 early growth response 1 ISO protein:increased expression:aortic valve cusp RGD PMID:15597579 RGD:1626496 NCBI chrNW_004955418:2,001,509...2,005,269
Ensembl chrNW_004955418:2,002,699...2,005,007 		JBrowse link
G Eln elastin ISO RGD PMID:11175284 RGD:1580327 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Eno3 enolase 3 ISO mRNA:decreased expression:cardiac muscle cell RGD PMID:8594891 RGD:2301765 NCBI chrNW_004955467:10,363,154...10,368,261
Ensembl chrNW_004955467:10,361,705...10,368,755 		JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:15533858 RGD:1580704 NCBI chrNW_004955466:5,587,003...5,644,765
Ensembl chrNW_004955466:5,575,088...5,638,946 		JBrowse link
G Jarid2 jumonji and AT-rich interaction domain containing 2 ISO mRNA, protein:decreased expression:ventricle endocardium (human) RGD PMID:18805276 RGD:9586018 NCBI chrNW_004955590:383,810...512,854
Ensembl chrNW_004955590:384,817...626,684 		JBrowse link
G Lgals3 galectin 3 ISO RGD PMID:15520318 RGD:9685214 NCBI chrNW_004955409:8,448,120...8,452,437
Ensembl chrNW_004955409:8,447,774...8,452,438 		JBrowse link
G Nfatc1 nuclear factor of activated T cells 1 severity ISO RGD PMID:23578508 RGD:267010069 NCBI chrNW_004955402:62,558,392...62,674,347
Ensembl chrNW_004955402:62,558,286...62,674,457 		JBrowse link
G Nppc natriuretic peptide C ISO mRNA:decreased expression:aortic valve RGD PMID:17709640 RGD:1642267 NCBI chrNW_004955453:3,884,580...3,888,494
Ensembl chrNW_004955453:3,884,560...3,888,850 		JBrowse link
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase ISO mRNA:increased expression:heart left ventricle (human) RGD PMID:22128088 RGD:9590202 NCBI chrNW_004955475:11,062,258...11,112,252
Ensembl chrNW_004955475:11,062,076...11,114,169 		JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO RGD PMID:15533858 RGD:1580704 NCBI chrNW_004955437:18,323,852...18,377,815
Ensembl chrNW_004955437:18,323,857...18,377,815 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO with Egfr mutation RGD PMID:10700187 RGD:734918 NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203 		JBrowse link
G Sp7 Sp7 transcription factor severity ISO RGD PMID:23578508 RGD:267010069 NCBI chrNW_004955458:583,981...602,856
Ensembl chrNW_004955458:583,981...602,856 		JBrowse link
G Tnf tumor necrosis factor ISO OMIM:109730 | OMIM:614823 MouseDO NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO protein:increased expression:serum RGD PMID:20211333 RGD:7205491 NCBI chrNW_004955417:24,804,708...24,831,338
Ensembl chrNW_004955417:24,804,664...24,831,894 		JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:11359741 RGD:1580365 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048 		JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22 OMIM
ClinVar		 PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More... NCBI chrNW_004955502:4,219,067...4,356,988
Ensembl chrNW_004955502:4,218,885...4,356,988 		JBrowse link
Calcification of Aortic Valve term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904 		JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:24374105 RGD:11352276 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ameliorates ISO RGD PMID:22699504 RGD:155641244 NCBI chrNW_004955416:7,807,049...7,816,346
Ensembl chrNW_004955416:7,807,049...7,817,420 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 severity ISO RGD PMID:15120829 RGD:12910476 NCBI chrNW_004955403:3,062,724...3,073,419
Ensembl chrNW_004955403:3,063,133...3,073,419 		JBrowse link
G Meis2 Meis homeobox 2 ISO mRNA,protein:decreased expression:aortic valve: RGD PMID:30594396 RGD:155598679 NCBI chrNW_004955416:4,104,114...4,311,791
Ensembl chrNW_004955416:4,101,977...4,311,791 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16025100 NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells RGD PMID:25722432 RGD:13207434 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171 		JBrowse link
G Pth parathyroid hormone disease_progression ISO protein:increased expression:serum (rat) RGD PMID:22634235 RGD:7242900 NCBI chrNW_004955414:28,828,389...28,831,417
Ensembl chrNW_004955414:28,825,651...28,831,117 		JBrowse link
G Ptpn1 protein tyrosine phosphatase non-receptor type 1 ISO protein:increased expression:aortic valve (human) RGD PMID:35958694 RGD:401976381 NCBI chrNW_004955445:7,754,313...7,819,229
Ensembl chrNW_004955445:7,754,319...7,819,275 		JBrowse link
G Slc20a1 solute carrier family 20 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chrNW_004955470:1,634,470...1,649,234
Ensembl chrNW_004955470:1,634,476...1,649,234 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928 		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 chrNW_004955408:98,995...137,922
Ensembl chrNW_004955408:107,056...140,056 		JBrowse link
COX deficiency, infantile mitochondrial myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC106146232 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:12529715 PMID:14970747 More... NCBI chrNW_004955413:33,503,882...33,505,417 JBrowse link
G Ncaph2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 More... NCBI chrNW_004955413:33,492,348...33,503,804 JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955413:33,505,424...33,509,095
Ensembl chrNW_004955413:33,505,446...33,508,748 		JBrowse link
discrete subaortic stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fads2 fatty acid desaturase 2 treatment ISO associated with Left Ventricular Hypertrophy, Cardiac Fibrosis RGD PMID:24284026 RGD:401901245 NCBI chrNW_004955511:5,827,797...5,842,745
Ensembl chrNW_004955511:5,827,797...5,842,760 		JBrowse link
familial hypertrophic cardiomyopathy 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: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955413:17,385,966...17,510,220
Ensembl chrNW_004955413:17,382,564...17,510,132 		JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356 		JBrowse link
G Actc1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 More... NCBI chrNW_004955416:2,139,541...2,144,678
Ensembl chrNW_004955416:2,137,101...2,145,416 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:14567970 PMID:16199547 PMID:17097056 PMID:17576681 More... NCBI chrNW_004955492:3,483,704...3,554,831
Ensembl chrNW_004955492:3,483,511...3,555,190 		JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chrNW_004955425:2,258,554...2,267,699
Ensembl chrNW_004955425:2,258,392...2,267,878 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31395899 PMID:33874732 NCBI chrNW_004955551:446,322...468,329
Ensembl chrNW_004955551:446,605...469,207 		JBrowse link
G Calm3 calmodulin 3 susceptibility ISO DNA:polymorphism:promoter:¿¿¿34T>A(human) RGD PMID:19429631 RGD:13792494 NCBI chrNW_004955574:672,441...680,924
Ensembl chrNW_004955574:672,300...680,924 		JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004955524:1,245,607...1,256,528
Ensembl chrNW_004955524:1,245,708...1,256,478 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:14672715 PMID:15580566 NCBI chrNW_004955561:326,008...335,911
Ensembl chrNW_004955561:325,944...335,914 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412 		JBrowse link
G Cryab crystallin alpha B ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More... NCBI chrNW_004955412:13,626,018...13,629,495
Ensembl chrNW_004955412:13,625,363...13,640,426 		JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:12642359 PMID:14567970 PMID:16199547 PMID:16352453 PMID:20087448 More... NCBI chrNW_004955476:155,913...176,122
Ensembl chrNW_004955476:154,917...176,616 		JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:11058912 PMID:24033266 PMID:26084686 PMID:28492532 NCBI chrNW_004955493:7,735,996...7,737,559 JBrowse link
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955425:18,623,645...20,126,200
Ensembl chrNW_004955425:18,628,961...20,087,647 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:17221859 PMID:18653338 PMID:19151983 PMID:20171226 PMID:20423733 More... NCBI chrNW_004955453:14,039,502...14,046,572
Ensembl chrNW_004955453:14,039,502...14,047,246 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004955467:9,691,733...9,715,872
Ensembl chrNW_004955467:9,690,469...9,715,872 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28569743 PMID:31333075 More... NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542 		JBrowse link
G Dnaaf3 dynein axonemal assembly factor 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955567:1,030,467...1,036,562
Ensembl chrNW_004955567:1,030,691...1,036,283 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:7971964 PMID:17033975 PMID:20031616 PMID:20031617 PMID:20197793 More... NCBI chrNW_004955402:18,465,631...18,496,948
Ensembl chrNW_004955402:18,464,989...18,489,475 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chrNW_004955402:18,826,400...18,876,188 JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:18632414 PMID:19924139 PMID:20738328 PMID:23381804 PMID:23861362 More... NCBI chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207 		JBrowse link
G Dtna dystrobrevin alpha ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955402:21,414,122...21,676,389
Ensembl chrNW_004955402:21,315,889...21,673,044 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004955436:13,710,366...13,982,379
Ensembl chrNW_004955436:13,709,806...13,982,380 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25246303 PMID:26857240 PMID:28492532 NCBI chrNW_004955489:8,888,845...8,944,778
Ensembl chrNW_004955489:8,888,779...8,901,970 		JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004955470:10,240,117...10,286,117
Ensembl chrNW_004955470:10,240,117...10,286,289 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26555887 PMID:28492532 PMID:31513939 PMID:32112656 NCBI chrNW_004955479:9,633,817...9,661,725
Ensembl chrNW_004955479:9,633,598...9,661,777 		JBrowse link
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:2171331 PMID:8738659 PMID:8878432 PMID:9100224 PMID:9395081 More... NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817 		JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More... NCBI chrNW_004955430:23,481,957...23,536,407
Ensembl chrNW_004955430:23,481,957...23,539,495 		JBrowse link
G Ilk integrin linked kinase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:11402068 PMID:11694518 PMID:14745274 PMID:16199547 More... NCBI chrNW_004955414:22,316,243...22,322,979
Ensembl chrNW_004955414:22,316,047...22,322,979 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25500949 PMID:25741868 PMID:28492532 PMID:30235249 More... NCBI chrNW_004955445:13,117,312...13,190,061
Ensembl chrNW_004955445:13,118,717...13,187,235 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:21859740 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27662471 More... NCBI chrNW_004955451:15,993,055...16,004,152
Ensembl chrNW_004955451:15,989,180...16,004,155 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:15368194 PMID:16487223 PMID:22581653 PMID:24681347 PMID:25741868 More... NCBI chrNW_004955407:33,734,969...33,736,609
Ensembl chrNW_004955407:33,735,148...33,735,513 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:11222472 PMID:11468227 PMID:11668638 PMID:14998624 PMID:20167303 More... NCBI chrNW_004955491:5,391,444...5,422,241
Ensembl chrNW_004955491:5,391,384...5,422,241 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30086531 More... NCBI chrNW_004955526:4,330,388...4,465,810
Ensembl chrNW_004955526:4,330,388...4,465,528 		JBrowse link
G Lamp2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:28492532 NCBI chrNW_004955572:1,423,048...1,464,443
Ensembl chrNW_004955572:1,422,981...1,462,622 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29247119 PMID:30847666 PMID:31333075 More... NCBI chrNW_004955510:5,738,254...5,793,643
Ensembl chrNW_004955510:5,738,041...5,790,557 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:8621584 PMID:9536098 PMID:12057196 PMID:16407522 PMID:16585054 More... NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033 		JBrowse link
G LOC102026964 chromosome unknown open reading frame, human C2orf49 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004955470:10,223,467...10,234,309
Ensembl chrNW_004955470:10,223,467...10,234,309 		JBrowse link
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004955402:10,392,308...10,502,576
Ensembl chrNW_004955402:10,392,308...10,502,576 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy		 ClinVar PMID:203962 PMID:203979 PMID:208206 PMID:208208 PMID:739990 More... NCBI chrNW_004955422:888,529...902,074
Ensembl chrNW_004955422:888,589...901,725 		JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:08673105 PMID:09535554 PMID:11102452 PMID:11748309 PMID:12404107 More... NCBI chrNW_004955482:7,708,436...7,713,877
Ensembl chrNW_004955482:7,705,912...7,713,870 		JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:8673105 PMID:11174330 PMID:12021217 PMID:16754800 PMID:18409188 More... NCBI chrNW_004955420:25,308,513...25,311,959
Ensembl chrNW_004955420:25,305,759...25,312,271 		JBrowse link
G Myl9 myosin light chain 9 ISO RGD PMID:16076902 RGD:1582589 NCBI chrNW_004955422:25,078,011...25,084,853
Ensembl chrNW_004955422:25,074,129...25,084,840 		JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955422:29,141,699...29,154,927
Ensembl chrNW_004955422:29,141,348...29,154,927 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955402:7,293,415...7,418,226
Ensembl chrNW_004955402:7,297,502...7,417,583 		JBrowse link
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chrNW_004955428:21,052,352...21,088,468
Ensembl chrNW_004955428:21,052,137...21,101,795 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:18006477 PMID:25741868 PMID:26084686 PMID:28492532 PMID:28798025 More... NCBI chrNW_004955425:20,461,654...20,545,626
Ensembl chrNW_004955425:20,471,047...20,544,105 		JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More... NCBI chrNW_004955429:7,559,994...7,730,683
Ensembl chrNW_004955429:7,358,758...7,725,648 		JBrowse link
G Nexn nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:16199547 PMID:20970104 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chrNW_004955423:15,278,526...15,299,654
Ensembl chrNW_004955423:15,278,526...15,299,659 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:14672715 PMID:15580566 NCBI chrNW_004955561:340,387...354,499
Ensembl chrNW_004955561:337,902...354,336 		JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chrNW_004955403:23,546,291...23,579,975
Ensembl chrNW_004955403:23,546,291...23,579,975 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:19955750 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20857253 More... NCBI chrNW_004955505:2,878,001...2,959,299
Ensembl chrNW_004955505:2,878,081...2,958,404 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chrNW_004955486:8,139,848...8,327,788
Ensembl chrNW_004955486:8,137,531...8,327,977 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:10355918 PMID:10820940 PMID:11407343 PMID:11407351 PMID:11586962 More... NCBI chrNW_004955491:5,852,534...6,048,820
Ensembl chrNW_004955491:5,852,082...6,019,318 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:12077328 PMID:17603482 PMID:17603483 PMID:17603486 PMID:17603487 More... NCBI chrNW_004955429:17,980,956...18,049,723
Ensembl chrNW_004955429:18,025,932...18,049,723 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25163546 PMID:25351510 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955485:590,094...769,604
Ensembl chrNW_004955485:586,373...769,635 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:12459180 PMID:19216760 PMID:19926015 PMID:20132818 PMID:22787013 More... NCBI chrNW_004955492:2,647,597...3,275,512
Ensembl chrNW_004955492:2,648,956...3,076,509 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:8661019 PMID:10690282 PMID:10727653 PMID:11823453 PMID:12639704 More... NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552 		JBrowse link
G Shoc2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955485:430,493...517,767
Ensembl chrNW_004955485:430,493...517,126 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:27763634 PMID:28492532 NCBI chrNW_004955441:6,649,895...6,724,271
Ensembl chrNW_004955441:6,646,385...6,713,028 		JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:11402068 PMID:11694518 PMID:14745274 PMID:16199547 More... NCBI chrNW_004955414:22,322,954...22,324,412
Ensembl chrNW_004955414:22,323,031...22,324,367 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:10655062 PMID:15582318 PMID:16352453 PMID:16911908 PMID:17097056 More... NCBI chrNW_004955451:14,413,657...14,414,735
Ensembl chrNW_004955451:14,413,657...14,414,735 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26214305 PMID:28492532 PMID:33552729 NCBI chrNW_004955429:16,921,469...16,934,978
Ensembl chrNW_004955429:16,921,469...16,934,978 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955405:34,526,420...34,556,740
Ensembl chrNW_004955405:34,535,306...34,554,835 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy		 ClinVar PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10806205 More... NCBI chrNW_004955567:1,037,325...1,042,102
Ensembl chrNW_004955567:1,037,462...1,042,039 		JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955567:1,039,625...1,050,581
Ensembl chrNW_004955567:1,043,026...1,055,039 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:209262 PMID:541918 PMID:2946667 PMID:7898523 PMID:8205619 More... NCBI chrNW_004955406:37,491,462...37,507,360
Ensembl chrNW_004955406:37,487,154...37,507,639 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chrNW_004955450:12,197,241...12,223,372
Ensembl chrNW_004955450:12,194,755...12,224,011 		JBrowse link
G Trim63 tripartite motif containing 63 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:22821932 PMID:24436435 PMID:25741868 PMID:25801283 PMID:28492532 More... NCBI chrNW_004955452:5,517,969...5,531,490
Ensembl chrNW_004955452:5,520,269...5,531,975 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy		 ClinVar PMID:11846417 PMID:18414213 PMID:18948003 PMID:23396983 PMID:23861362 More... NCBI chrNW_004955403:18,057,344...18,328,389 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26537620 PMID:28492532 PMID:30683924 PMID:31554435 NCBI chrNW_004955402:18,921,235...18,927,976
Ensembl chrNW_004955402:18,921,274...18,928,108 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955442:18,150,060...18,205,775
Ensembl chrNW_004955442:18,152,152...18,204,327 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:20474083 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chrNW_004955437:17,812,998...17,920,253
Ensembl chrNW_004955437:17,813,007...17,920,253 		JBrowse link
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 19 ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:29988065 PMID:30847666 NCBI chrNW_004955524:1,245,607...1,256,528
Ensembl chrNW_004955524:1,245,708...1,256,478 		JBrowse link
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 30, ATRIAL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Corin corin, serine peptidase ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 30, atrial OMIM
ClinVar		 PMID:25741868 PMID:37913506 NCBI chrNW_004955443:721,655...970,600
Ensembl chrNW_004955443:722,201...969,014 		JBrowse link
hypertrophic cardiomyopathy 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: Hypertrophic cardiomyopathy ClinVar PMID:17245405 PMID:25741868 PMID:28492532 NCBI chrNW_004955413:17,385,966...17,510,220
Ensembl chrNW_004955413:17,382,564...17,510,132 		JBrowse link
G Acacb acetyl-CoA carboxylase beta ISO RGD PMID:31709908 RGD:329901803 NCBI chrNW_004955455:10,282,308...10,427,439
Ensembl chrNW_004955455:10,308,192...10,426,076 		JBrowse link
G Ace2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:myocardium (human) RGD PMID:32448590 RGD:40818260 NCBI chrNW_004955519:2,591,229...2,643,705
Ensembl chrNW_004955519:2,591,248...2,633,495 		JBrowse link
G Acp2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955422:954,108...961,522
Ensembl chrNW_004955422:954,089...961,522 		JBrowse link
G Actc1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 More... NCBI chrNW_004955416:2,139,541...2,144,678
Ensembl chrNW_004955416:2,137,101...2,145,416 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17097056 PMID:20022194 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chrNW_004955492:3,483,704...3,554,831
Ensembl chrNW_004955492:3,483,511...3,555,190 		JBrowse link
G Adgrl4 adhesion G protein-coupled receptor L4 ISO protein:decreased expression:heart: RGD PMID:22606234 RGD:13838662 NCBI chrNW_004955423:14,395,712...14,487,803
Ensembl chrNW_004955423:14,395,558...14,487,856 		JBrowse link
G Adm adrenomedullin ISO associated with Diabetes Mellitus, Experimental;protein:decreased expression:cardiomyocyte RGD PMID:17355819 RGD:1625294 NCBI chrNW_004955414:25,951,473...25,953,593
Ensembl chrNW_004955414:25,951,349...25,953,645 		JBrowse link
G Agt angiotensinogen susceptibility
no_association		 ISO DNA:polymorphism:cds:p.M235T(human)
DNA:polymorphisms: :p.T174M, p.M235T (human)		 RGD PMID:9023164 PMID:9270088 RGD:13432163 RGD:1566491 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO RGD PMID:19889059 RGD:401794453 NCBI chrNW_004955410:20,428,531...20,459,482
Ensembl chrNW_004955410:20,428,546...20,456,836 		JBrowse link
G Akap6 A-kinase anchoring protein 6 ISO RGD PMID:24812305 RGD:11251930 NCBI chrNW_004955409:28,067,814...28,516,881
Ensembl chrNW_004955409:28,077,621...28,516,944 		JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chrNW_004955432:8,933,037...9,090,872
Ensembl chrNW_004955432:8,932,952...9,095,065 		JBrowse link
G Alpk3 alpha kinase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:21441111 PMID:24033266 PMID:26846950 PMID:27106955 PMID:28492532 More... NCBI chrNW_004955416:14,279,831...14,322,836
Ensembl chrNW_004955416:14,277,866...14,322,838 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12571597 PMID:15178757 PMID:17242276 PMID:22581653 PMID:23174487 More... NCBI chrNW_004955457:13,624,590...13,938,427
Ensembl chrNW_004955457:13,624,413...14,076,261 		JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... NCBI chrNW_004955425:2,258,554...2,267,699
Ensembl chrNW_004955425:2,258,392...2,267,878 		JBrowse link
G Aph1b aph-1 homolog B, gamma-secretase subunit ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955450:12,000,682...12,022,183
Ensembl chrNW_004955450:12,000,424...12,022,071 		JBrowse link
G Arfgap2 ADP ribosylation factor GTPase activating protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955422:995,672...1,006,008
Ensembl chrNW_004955422:995,672...1,006,008 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955551:446,322...468,329
Ensembl chrNW_004955551:446,605...469,207 		JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO protein:decreased expression:heart
protein:decreased expression:cardiomyocyte		 RGD PMID:25209900 PMID:25820375 RGD:11558015 RGD:13792650 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485 		JBrowse link
G Becn1 beclin 1 ISO protein:increased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chrNW_004955451:16,616,595...16,625,731
Ensembl chrNW_004955451:16,616,595...16,625,730 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Ca12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955450:11,927,730...11,975,553
Ensembl chrNW_004955450:11,943,340...11,975,928 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20817017 PMID:22840528 PMID:23861362 PMID:24439875 PMID:25260352 More... NCBI chrNW_004955454:4,573,647...5,199,046
Ensembl chrNW_004955454:4,490,923...5,198,506 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 severity ISO DNA:missense mutation:cds:c.1598C>T (p.S533L)(human)
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy		 RGD
ClinVar		 PMID:23861362 PMID:25741868 PMID:28492532 PMID:28614222 RGD:13513985 NCBI chrNW_004955429:9,642,725...9,966,175
Ensembl chrNW_004955429:9,644,053...9,966,175 		JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17655857 PMID:23861362 PMID:25741868 PMID:28492532 PMID:31513939 NCBI chrNW_004955524:1,245,607...1,256,528
Ensembl chrNW_004955524:1,245,708...1,256,478 		JBrowse link
G Capn2 calpain 2 ISO protein:increased expression, activity:nucleus RGD PMID:25820375 RGD:13792650 NCBI chrNW_004955520:1,287,829...1,315,318
Ensembl chrNW_004955520:1,286,356...1,315,328 		JBrowse link
G Casp3 caspase 3 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:18192848 RGD:2293330 NCBI chrNW_004955403:24,315,712...24,326,271 JBrowse link
G Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 More... NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210 		JBrowse link
G Cav1 caveolin 1 ISO MouseDO NCBI chrNW_004955432:22,258,262...22,292,403
Ensembl chrNW_004955432:22,258,250...22,292,403 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004955561:326,008...335,911
Ensembl chrNW_004955561:325,944...335,914 		JBrowse link
G Cd36 CD36 molecule (CD36 blood group) ISO mRNA:increased expression:heart RGD PMID:19189074 RGD:2307222 NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313 		JBrowse link
G Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004955532:724,306...749,192
Ensembl chrNW_004955532:725,243...749,173 		JBrowse link
G Cep85l centrosomal protein 85 like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More... NCBI chrNW_004955436:1,352,481...1,482,061
Ensembl chrNW_004955436:1,393,493...1,465,373 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:21667357 PMID:25741868 PMID:27519266 PMID:28492532 PMID:30715774 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073 		JBrowse link
G Cryab crystallin alpha B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More... NCBI chrNW_004955412:13,626,018...13,629,495
Ensembl chrNW_004955412:13,625,363...13,640,426 		JBrowse link
G Cs citrate synthase ISO RGD PMID:10354207 RGD:243048483 NCBI chrNW_004955458:3,881,798...3,913,044
Ensembl chrNW_004955458:3,881,798...3,893,401 		JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:8994428 PMID:9039266 PMID:12507422 PMID:12642359 PMID:14567970 More... NCBI chrNW_004955476:155,913...176,122
Ensembl chrNW_004955476:154,917...176,616 		JBrowse link
G Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955422:1,005,941...1,179,128
Ensembl chrNW_004955422:1,005,941...1,172,618 		JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955493:7,735,996...7,737,559 JBrowse link
G Ctnnb1 catenin beta 1 treatment ISO protein:increased phosphorylation:myocyte: RGD PMID:14993121 RGD:1598718 NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449 		JBrowse link
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955422:961,602...977,066
Ensembl chrNW_004955422:961,893...974,338 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:32528171 NCBI chrNW_004955453:14,039,502...14,046,572
Ensembl chrNW_004955453:14,039,502...14,047,246 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19937601 PMID:19959795 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542 		JBrowse link
G Dnaaf3 dynein axonemal assembly factor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955567:1,030,467...1,036,562
Ensembl chrNW_004955567:1,030,691...1,036,283 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO protein:increased expression:cardiac muscle tissue of interventricular septum (human) RGD PMID:32051532 RGD:126925233 NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20031617 PMID:20152563 PMID:20400443 PMID:20716751 PMID:20857253 More... NCBI chrNW_004955402:18,465,631...18,496,948
Ensembl chrNW_004955402:18,464,989...18,489,475 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20400443 PMID:21220045 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chrNW_004955402:18,826,400...18,876,188 JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18632414 PMID:19863551 PMID:21062920 PMID:21397041 PMID:21606390 More... NCBI chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207 		JBrowse link
G Dtna dystrobrevin alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:30086531 PMID:31568572 NCBI chrNW_004955402:21,414,122...21,676,389
Ensembl chrNW_004955402:21,315,889...21,673,044 		JBrowse link
G Edn1 endothelin 1 ISO associated with Diabetes Mellitus, Experimental; protein:increased secretion:serum (rat) RGD PMID:19000375 RGD:2302065 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904 		JBrowse link
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955402:7,507,674...7,519,978
Ensembl chrNW_004955402:7,508,159...7,519,977 		JBrowse link
G Ephx2 epoxide hydrolase 2 ISO mRNA, protein:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chrNW_004955403:49,999,563...50,038,800
Ensembl chrNW_004955403:49,999,563...50,041,572 		JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955471:12,282,601...12,308,792
Ensembl chrNW_004955471:12,289,857...12,348,167 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955436:13,710,366...13,982,379
Ensembl chrNW_004955436:13,709,806...13,982,380 		JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chrNW_004955506:1,063,002...1,079,939
Ensembl chrNW_004955506:1,063,002...1,079,939 		JBrowse link
G Fbxl22 F-box and leucine rich repeat protein 22 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955450:11,719,678...11,728,093 JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004955489:8,888,845...8,944,778
Ensembl chrNW_004955489:8,888,779...8,901,970 		JBrowse link
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004955402:22,822,060...23,277,993
Ensembl chrNW_004955402:22,821,710...23,279,222 		JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:11741828 PMID:16344347 PMID:16368217 PMID:17994539 PMID:18832576 More... NCBI chrNW_004955574:779,672...789,621
Ensembl chrNW_004955574:786,758...788,348 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18414213 PMID:22037554 PMID:25741868 PMID:28492532 NCBI chrNW_004955419:20,933,662...20,994,793
Ensembl chrNW_004955419:20,933,662...20,994,793 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:26555887 PMID:28492532 PMID:31513939 More... NCBI chrNW_004955479:9,633,817...9,661,725
Ensembl chrNW_004955479:9,633,598...9,661,777 		JBrowse link
G Fxn frataxin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15936968 PMID:25741868 NCBI chrNW_004955434:3,983,225...4,008,324
Ensembl chrNW_004955434:3,980,653...4,008,761 		JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22644586 PMID:25741868 PMID:28492532 NCBI chrNW_004955506:2,764,959...2,783,231
Ensembl chrNW_004955506:2,764,959...2,783,231 		JBrowse link
G Gja5 gap junction protein alpha 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004955568:635,319...652,692
Ensembl chrNW_004955568:635,042...653,349 		JBrowse link
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:7504405 PMID:7911050 PMID:8395937 PMID:8411052 PMID:8878432 More... NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817 		JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More... NCBI chrNW_004955430:23,481,957...23,536,407
Ensembl chrNW_004955430:23,481,957...23,539,495 		JBrowse link
G Gpr149 G protein-coupled receptor 149 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004955448:5,682,132...5,749,533
Ensembl chrNW_004955448:5,685,168...5,749,467 		JBrowse link
G Gtpbp3 GTP binding protein 3, mitochondrial ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25434004 PMID:25741868 PMID:30426380 PMID:34276756 PMID:35413567 NCBI chrNW_004955524:899,475...903,168 JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25145518 PMID:25145519 PMID:25642760 PMID:25741868 More... NCBI chrNW_004955450:4,139,852...4,181,377
Ensembl chrNW_004955450:4,139,852...4,181,377 		JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955450:11,525,245...11,719,992
Ensembl chrNW_004955450:11,525,246...11,719,992 		JBrowse link
G Hey2 hes related family bHLH transcription factor with YRPW motif 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20001863 NCBI chrNW_004955436:7,060,930...7,070,610
Ensembl chrNW_004955436:7,060,930...7,070,030 		JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased activity:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chrNW_004955844:8,094...9,565
Ensembl chrNW_004955844:7,790...10,004 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chrNW_004955403:3,062,724...3,073,419
Ensembl chrNW_004955403:3,063,133...3,073,419 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle (rat) RGD PMID:20601373 RGD:4145536 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363 		JBrowse link
G Igf1 insulin like growth factor 1 severity ISO RGD PMID:12135130 RGD:1598422 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO associated with Diabetes Mellitus;protein:decreased expression:placenta RGD PMID:16750336 RGD:2311505 NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666 		JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8660453 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419 		JBrowse link
G Irf9 interferon regulatory factor 9 exacerbates
ameliorates		 ISO RGD PMID:24144649 RGD:125093743 NCBI chrNW_004955409:36,233,633...36,239,916
Ensembl chrNW_004955409:36,234,077...36,239,500 		JBrowse link
G Jph2 junctophilin 2 disease_progression ISO protein:decreased expression:heart
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy		 RGD
ClinVar		 PMID:9536098 PMID:17476457 PMID:17509612 PMID:17576681 PMID:20576937 More... RGD:6480270 NCBI chrNW_004955445:13,117,312...13,190,061
Ensembl chrNW_004955445:13,118,717...13,187,235 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955451:15,993,055...16,004,152
Ensembl chrNW_004955451:15,989,180...16,004,155 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24217263 PMID:28492532 NCBI chrNW_004955407:33,807,581...33,814,356
Ensembl chrNW_004955407:33,807,581...33,814,356 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:10220144 PMID:15368194 PMID:15840476 PMID:18006462 PMID:20817017 More... NCBI chrNW_004955407:33,734,969...33,736,609
Ensembl chrNW_004955407:33,735,148...33,735,513 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19716085 PMID:22581653 PMID:24033266 PMID:25637381 PMID:25741868 More... NCBI chrNW_004955491:5,391,444...5,422,241
Ensembl chrNW_004955491:5,391,384...5,422,241 		JBrowse link
G Kcnj2 potassium inwardly rectifying channel subfamily J member 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955478:2,734,795...2,745,217
Ensembl chrNW_004955478:2,734,795...2,745,217 		JBrowse link
G Kcnj5 potassium inwardly rectifying channel subfamily J member 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955412:29,850,097...29,874,213
Ensembl chrNW_004955412:29,850,097...29,874,213 		JBrowse link
G Kcnj8 potassium inwardly rectifying channel subfamily J member 8 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19120683 PMID:20558321 PMID:22056721 PMID:22365152 PMID:22562657 More... NCBI chrNW_004955413:17,364,447...17,371,255
Ensembl chrNW_004955413:17,364,213...17,371,255 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19716085 PMID:22581653 PMID:23396983 PMID:24033266 PMID:24055113 More... NCBI chrNW_004955422:14,212,563...14,544,556
Ensembl chrNW_004955422:14,212,553...14,544,556 		JBrowse link
G Klhl24 kelch like family member 24 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004955420:23,700,030...23,733,021
Ensembl chrNW_004955420:23,700,035...23,735,301 		JBrowse link
G Klhl41 kelch like family member 41 ISO RGD PMID:11583900 RGD:1580798 NCBI chrNW_004955449:5,023,362...5,041,006
Ensembl chrNW_004955449:5,023,362...5,061,705 		JBrowse link
G Lactb lactamase beta ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955450:12,140,049...12,155,600
Ensembl chrNW_004955450:12,140,404...12,155,898 		JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955436:9,829,777...10,400,101
Ensembl chrNW_004955436:9,830,030...10,399,891 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955526:4,330,388...4,465,810
Ensembl chrNW_004955526:4,330,388...4,465,528 		JBrowse link
G Lamp2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:15673802 PMID:16199547 PMID:16217705 PMID:17576681 More... NCBI chrNW_004955572:1,423,048...1,464,443
Ensembl chrNW_004955572:1,422,981...1,462,622 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17235623 PMID:17394203 PMID:17438622 PMID:20474083 PMID:23299917 More... NCBI chrNW_004955510:5,738,254...5,793,643
Ensembl chrNW_004955510:5,738,041...5,790,557 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:2338570 PMID:2753225 PMID:23183350 PMID:23328570 PMID:24033266 More... NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033 		JBrowse link
G LOC102005965 cytochrome b-c1 complex subunit 1, mitochondrial ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004955532:685,315...691,286
Ensembl chrNW_004955532:685,395...696,554 		JBrowse link
G LOC102009223 cytochrome P450 1B1 ISO mRNA, protein:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chrNW_004955441:5,803,397...5,812,131
Ensembl chrNW_004955441:5,803,032...5,812,131 		JBrowse link
G LOC102010850 cytochrome P450 1A1 ISO mRNA:increased expression:heatt (rat)
mRNA, protein:increased expression:heart (rat)		 RGD PMID:19889059 PMID:24247421 RGD:401793741 RGD:401794453 NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488 		JBrowse link
G LOC102017801 cytochrome c oxidase assembly protein COX15 homolog ISO RGD PMID:12474143 RGD:1598468 NCBI chrNW_004955507:5,600,605...5,617,556
Ensembl chrNW_004955507:5,600,605...5,617,556 		JBrowse link
G LOC102026028 cytochrome P450 2E1 ISO mRNA, protein:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chrNW_004955507:6,293,162...6,303,255
Ensembl chrNW_004955507:6,289,576...6,304,193 		JBrowse link
G LOC106146232 protein SCO2 homolog, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10749987 PMID:11027508 PMID:14970747 RGD:1580020 NCBI chrNW_004955413:33,503,882...33,505,417 JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955402:7,457,408...7,505,829
Ensembl chrNW_004955402:7,472,538...7,504,231 		JBrowse link
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955422:1,191,338...1,238,227
Ensembl chrNW_004955422:1,191,338...1,238,227 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO DNA:missense mutation:c.1394C>T p.A465V, c.1330G>A p.D444N (human) RGD PMID:32004086 RGD:151708727 NCBI chrNW_004955442:19,315,427...19,333,361
Ensembl chrNW_004955442:19,315,427...19,333,522 		JBrowse link
G Madd MAP kinase activating death domain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955422:902,969...940,201
Ensembl chrNW_004955422:902,969...940,201 		JBrowse link
G Map1lc3a microtubule associated protein 1 light chain 3 alpha ISO protein:increased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chrNW_004955422:26,774,466...26,776,024
Ensembl chrNW_004955422:26,774,922...26,775,884 		JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955495:4,695,239...4,718,380
Ensembl chrNW_004955495:4,695,768...4,722,098 		JBrowse link
G Map3k7 mitogen-activated protein kinase kinase kinase 7 treatment ISO protein:increased phosphorylation:heart (human) RGD PMID:27249171 RGD:155646134 NCBI chrNW_004955411:17,177,335...17,229,957
Ensembl chrNW_004955411:17,177,335...17,229,957 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004955420:20,540,266...20,605,830
Ensembl chrNW_004955420:20,540,016...20,605,854 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:plasma RGD PMID:18585501 RGD:5130889 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma RGD PMID:18585501 RGD:5130889 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:208208 More... NCBI chrNW_004955422:888,529...902,074
Ensembl chrNW_004955422:888,589...901,725 		JBrowse link
G Mybphl myosin binding protein H like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004955435:12,705,467...12,725,320
Ensembl chrNW_004955435:12,705,467...12,725,320 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000973 NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982 		JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004955422:26,383,440...26,409,559
Ensembl chrNW_004955422:26,383,174...26,409,559 		JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:203862 PMID:08673105 PMID:09535554 PMID:9724616 PMID:10948063 More... NCBI chrNW_004955482:7,708,436...7,713,877
Ensembl chrNW_004955482:7,705,912...7,713,870 		JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:6211078 PMID:08673105 PMID:9536098 PMID:11174330 PMID:12021217 More... NCBI chrNW_004955420:25,308,513...25,311,959
Ensembl chrNW_004955420:25,305,759...25,312,271 		JBrowse link
G Myl4 myosin light chain 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chrNW_004955478:9,878,074...9,927,793
Ensembl chrNW_004955478:9,877,710...9,928,053 		JBrowse link
G Myl7 myosin light chain 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chrNW_004955456:7,840,078...7,842,065
Ensembl chrNW_004955456:7,840,078...7,842,129 		JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31513939 NCBI chrNW_004955422:29,141,699...29,154,927
Ensembl chrNW_004955422:29,141,348...29,154,927 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21256114 PMID:24033266 More... NCBI chrNW_004955402:7,293,415...7,418,226
Ensembl chrNW_004955402:7,297,502...7,417,583 		JBrowse link
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:16199547 PMID:17347475 PMID:17434779 PMID:17576681 More... NCBI chrNW_004955428:21,052,352...21,088,468
Ensembl chrNW_004955428:21,052,137...21,101,795 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18006477 PMID:20801532 PMID:22286171 PMID:23861362 PMID:24033266 More... NCBI chrNW_004955425:20,461,654...20,545,626
Ensembl chrNW_004955425:20,471,047...20,544,105 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chrNW_004955457:8,838,216...8,879,059
Ensembl chrNW_004955457:8,838,216...8,883,481 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 susceptibility ISO associated with Mitochondrial Encephalomyopathies;DNA:missense mutations: :p.R228Q, p.P229Q, p.S413P (human) RGD PMID:11220739 RGD:1600573 NCBI chrNW_004955468:12,961,873...12,971,278
Ensembl chrNW_004955468:12,961,915...12,971,095 		JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20951326 PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 More... NCBI chrNW_004955429:7,559,994...7,730,683
Ensembl chrNW_004955429:7,358,758...7,725,648 		JBrowse link
G Nexn nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19881492 PMID:24033266 PMID:25163546 PMID:25741868 PMID:28008423 More... NCBI chrNW_004955423:15,278,526...15,299,654
Ensembl chrNW_004955423:15,278,526...15,299,659 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955408:25,833,649...25,836,673
Ensembl chrNW_004955408:25,832,683...25,836,840 		JBrowse link
G Nmnat2 nicotinamide nucleotide adenylyltransferase 2 ISO protein:decreased expression, decreased activity:heart RGD PMID:22449973 RGD:13782043 NCBI chrNW_004955406:22,077,247...22,274,668
Ensembl chrNW_004955406:22,076,343...22,227,200 		JBrowse link
G Npm1 nucleophosmin 1 ISO protein:increased expression:cardiomyocyte: RGD PMID:21444791 RGD:11535018 NCBI chrNW_004955408:24,151,070...24,218,783 JBrowse link
G Nppa natriuretic peptide A treatment ISO protein:decreased expression:cardiomyocyte
mRNA:increased expression:heart (rat)
mRNA:increased expression:heatt (rat)
protein:increased expression:heart (human)		 RGD PMID:19889059 PMID:24247421 PMID:25820375 PMID:27249171 RGD:13792650 RGD:155646134 RGD:401793741 RGD:401794453 NCBI chrNW_004955486:2,061,196...2,062,805
Ensembl chrNW_004955486:2,060,735...2,063,003 		JBrowse link
G Nppb natriuretic peptide B ISO mRNA:increased expression:heatt (rat)
mRNA:increased expression:heart (rat)		 RGD PMID:19889059 PMID:24247421 RGD:401793741 RGD:401794453 NCBI chrNW_004955486:2,054,775...2,056,130 JBrowse link
G Nr1h3 nuclear receptor subfamily 1 group H member 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955422:940,310...954,170
Ensembl chrNW_004955422:940,310...949,049 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chrNW_004955514:1,084,522...1,162,624
Ensembl chrNW_004955514:1,069,085...1,162,624 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004955561:340,387...354,499
Ensembl chrNW_004955561:337,902...354,336 		JBrowse link
G Pacsin3 protein kinase C and casein kinase substrate in neurons 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955422:989,605...995,140 JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17254821 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955403:23,546,291...23,579,975
Ensembl chrNW_004955403:23,546,291...23,579,975 		JBrowse link
G Pepd peptidase D ISO MouseDO NCBI chrNW_004955468:3,147,871...3,277,294
Ensembl chrNW_004955468:3,146,521...3,277,294 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO MouseDO NCBI chrNW_004955442:15,132,555...15,178,377
Ensembl chrNW_004955442:15,145,640...15,178,377 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:16567567 PMID:17556197 PMID:19863551 PMID:19955750 PMID:20525856 More... NCBI chrNW_004955505:2,878,001...2,959,299
Ensembl chrNW_004955505:2,878,081...2,958,404 		JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More... NCBI chrNW_004955436:1,439,098...1,447,070
Ensembl chrNW_004955436:1,439,098...1,447,070 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:1539879 PMID:7847370 PMID:11555352 PMID:12210792 PMID:12297582 More... NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2536513 PMID:2831920 PMID:2853496 PMID:8381257 PMID:8928979 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386 		JBrowse link
G Ppp6r1 protein phosphatase 6 regulatory subunit 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955567:966,483...985,692
Ensembl chrNW_004955567:972,633...985,075 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:762819 PMID:2526523 PMID:10355918 PMID:10368461 PMID:10820940 More... NCBI chrNW_004955491:5,852,534...6,048,820
Ensembl chrNW_004955491:5,852,082...6,019,318 		JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955422:837,934...843,161
Ensembl chrNW_004955422:837,573...845,341 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:11992261 PMID:12058348 PMID:12960218 PMID:14644997 PMID:14961557 More... NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203 		JBrowse link
G Ptprh protein tyrosine phosphatase receptor type H ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955567:992,880...1,018,343 JBrowse link
G Rab8b RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955450:12,026,784...12,095,332
Ensembl chrNW_004955450:12,026,784...12,095,422 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17603482 PMID:17603483 NCBI chrNW_004955429:17,980,956...18,049,723
Ensembl chrNW_004955429:18,025,932...18,049,723 		JBrowse link
G Rapsn receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955422:826,556...834,483
Ensembl chrNW_004955422:826,727...834,289 		JBrowse link
G Rassf1 Ras association domain family member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19652091 NCBI chrNW_004955532:2,132,892...2,142,106
Ensembl chrNW_004955532:2,132,822...2,142,106 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22004663 PMID:24033266 PMID:24503780 PMID:25637381 PMID:25741868 More... NCBI chrNW_004955485:590,094...769,604
Ensembl chrNW_004955485:586,373...769,635 		JBrowse link
G Retn resistin ISO DNA, protein:SNP, increased expression:promoter, serum:-420G>C (rs1862513) (human) RGD PMID:20171599 RGD:7207251 NCBI chrNW_004955563:1,607,814...1,609,273
Ensembl chrNW_004955563:1,607,814...1,609,273 		JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chrNW_004955532:1,595,970...1,622,633
Ensembl chrNW_004955532:1,596,080...1,625,672 		JBrowse link
G Rps27l ribosomal protein S27 like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955450:12,122,948...12,126,167
Ensembl chrNW_004955450:12,122,921...12,128,101 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12459180 PMID:18752142 PMID:19926015 PMID:22787013 PMID:23022705 More... NCBI chrNW_004955492:2,647,597...3,275,512
Ensembl chrNW_004955492:2,648,956...3,076,509 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:10807545 PMID:15689442 PMID:15851227 PMID:16155735 PMID:17227473 More... NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552 		JBrowse link
G Sgca sarcoglycan alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955451:11,490,891...11,501,618 JBrowse link
G Sgcb sarcoglycan beta ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955447:18,459,562...18,472,367
Ensembl chrNW_004955447:18,459,562...18,469,324 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... NCBI chrNW_004955403:23,878,329...23,882,322
Ensembl chrNW_004955403:23,878,329...23,882,322 		JBrowse link
G Slc30a5 solute carrier family 30 member 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:33547425 NCBI chrNW_004955446:158,843...196,275
Ensembl chrNW_004955446:156,541...196,275 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955422:845,076...852,772
Ensembl chrNW_004955422:845,678...852,772 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19111554 NCBI chrNW_004955452:6,409,833...6,467,841
Ensembl chrNW_004955452:6,409,833...6,467,841 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955402:7,544,265...7,661,191
Ensembl chrNW_004955402:7,544,265...7,649,067 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 More... NCBI chrNW_004955441:6,649,895...6,724,271
Ensembl chrNW_004955441:6,646,385...6,713,028 		JBrowse link
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955422:873,735...886,560
Ensembl chrNW_004955422:873,735...886,560 		JBrowse link
G Syt5 synaptotagmin 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955567:1,018,433...1,024,477
Ensembl chrNW_004955567:1,018,433...1,024,477 		JBrowse link
G Tbca tubulin folding cofactor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chrNW_004955425:23,301,457...23,312,740
Ensembl chrNW_004955425:23,300,480...23,313,497 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:16352453 PMID:17097056 PMID:19035361 PMID:20474083 PMID:22194935 More... NCBI chrNW_004955451:14,413,657...14,414,735
Ensembl chrNW_004955451:14,413,657...14,414,735 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO RGD PMID:22134166 RGD:11073617 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441 		JBrowse link
G Tgfb3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25637381 PMID:25741868 PMID:25835445 PMID:28492532 More... NCBI chrNW_004955438:33,129...55,180
Ensembl chrNW_004955438:29,415...55,180 		JBrowse link
G Tgif1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955402:7,130,809...7,138,945
Ensembl chrNW_004955402:7,129,484...7,138,340 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:15056834 RGD:1580653 NCBI chrNW_004955506:3,769,113...3,812,896
Ensembl chrNW_004955506:3,768,646...3,813,820 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18313022 PMID:19467449 PMID:20010364 PMID:21214875 PMID:22458570 More... NCBI chrNW_004955429:16,921,469...16,934,978
Ensembl chrNW_004955429:16,921,469...16,934,978 		JBrowse link
G Tmem86b transmembrane protein 86B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955567:985,793...987,673
Ensembl chrNW_004955567:985,793...987,673 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31983221 NCBI chrNW_004955405:34,526,420...34,556,740
Ensembl chrNW_004955405:34,535,306...34,554,835 		JBrowse link
G Tnnc1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18572189 PMID:19439414 PMID:20459070 PMID:21056975 PMID:22489623 More... NCBI chrNW_004955430:2,438,644...2,441,596
Ensembl chrNW_004955430:2,434,874...2,441,596 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:3144325 PMID:3349559 PMID:7592712 PMID:9241277 PMID:9536098 More... NCBI chrNW_004955567:1,037,325...1,042,102
Ensembl chrNW_004955567:1,037,462...1,042,039 		JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955567:1,039,625...1,050,581
Ensembl chrNW_004955567:1,043,026...1,055,039 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:541918 PMID:2003160 PMID:2946667 PMID:7898523 PMID:7981753 More... NCBI chrNW_004955406:37,491,462...37,507,360
Ensembl chrNW_004955406:37,487,154...37,507,639 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000973 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chrNW_004955450:12,197,241...12,223,372
Ensembl chrNW_004955450:12,194,755...12,224,011 		JBrowse link
G Traf6 TNF receptor associated factor 6 treatment ISO RGD PMID:27249171 RGD:155646134 NCBI chrNW_004955422:9,925,765...9,950,354
Ensembl chrNW_004955422:9,932,680...9,949,100 		JBrowse link
G Trim63 tripartite motif containing 63 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22821932 PMID:24436435 PMID:25741868 PMID:25801283 PMID:28492532 More... NCBI chrNW_004955452:5,517,969...5,531,490
Ensembl chrNW_004955452:5,520,269...5,531,975 		JBrowse link
G Trpm4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23382873 PMID:25741868 PMID:28492532 NCBI chrNW_004955559:1,539,036...1,581,800
Ensembl chrNW_004955559:1,546,365...1,581,712 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:17344846 PMID:17576681 PMID:18414213 PMID:23396983 More... NCBI chrNW_004955403:18,057,344...18,328,389 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:7868124 PMID:14640030 PMID:20840742 PMID:24033266 PMID:25741868 More... NCBI chrNW_004955402:18,921,235...18,927,976
Ensembl chrNW_004955402:18,921,274...18,928,108 		JBrowse link
G Ucn urocortin ISO RGD PMID:14577573 RGD:1580792 NCBI chrNW_004955469:9,277,637...9,278,641
Ensembl chrNW_004955469:9,277,637...9,278,641 		JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955450:11,729,433...11,802,462
Ensembl chrNW_004955450:11,727,104...11,802,462 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:16712796 PMID:23299917 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chrNW_004955437:17,812,998...17,920,253
Ensembl chrNW_004955437:17,813,007...17,920,253 		JBrowse link
G Xirp1 xin actin binding repeat containing 1 ISO MouseDO NCBI chrNW_004955427:24,778,157...24,787,691
Ensembl chrNW_004955427:24,781,194...24,786,728 		JBrowse link
G Yy1 YY1 transcription factor ISO RGD PMID:12754214 RGD:1580831 NCBI chrNW_004955438:21,341,374...21,377,674 JBrowse link
hypertrophic cardiomyopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actc1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 More... NCBI chrNW_004955416:2,139,541...2,144,678
Ensembl chrNW_004955416:2,137,101...2,145,416 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:9536098 PMID:14567970 PMID:16199547 PMID:17097056 PMID:17576681 More... NCBI chrNW_004955492:3,483,704...3,554,831
Ensembl chrNW_004955492:3,483,511...3,555,190 		JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:16199547 PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chrNW_004955425:2,258,554...2,267,699
Ensembl chrNW_004955425:2,258,392...2,267,878 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:28492532 PMID:31395899 PMID:33874732 NCBI chrNW_004955551:446,322...468,329
Ensembl chrNW_004955551:446,605...469,207 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 ClinVar PMID:25741868 PMID:26253506 PMID:28492532 PMID:30025578 PMID:30172029 More... NCBI chrNW_004955454:4,573,647...5,199,046
Ensembl chrNW_004955454:4,490,923...5,198,506 		JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:17655857 PMID:23861362 More... NCBI chrNW_004955524:1,245,607...1,256,528
Ensembl chrNW_004955524:1,245,708...1,256,478 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19		 OMIM
ClinVar		 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 PMID:11251997 More... NCBI chrNW_004955561:326,008...335,911
Ensembl chrNW_004955561:325,944...335,914 		JBrowse link
G Cryab crystallin alpha B ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More... NCBI chrNW_004955412:13,626,018...13,629,495
Ensembl chrNW_004955412:13,625,363...13,640,426 		JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:16352453 PMID:17097056 PMID:18505755 PMID:23299917 PMID:23396983 More... NCBI chrNW_004955476:155,913...176,122
Ensembl chrNW_004955476:154,917...176,616 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:17221859 PMID:18653338 PMID:19151983 PMID:20171226 PMID:20423733 More... NCBI chrNW_004955453:14,039,502...14,046,572
Ensembl chrNW_004955453:14,039,502...14,047,246 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28569743 PMID:31333075 More... NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:7971964 PMID:17033975 PMID:20031616 PMID:20031617 PMID:20197793 More... NCBI chrNW_004955402:18,465,631...18,496,948
Ensembl chrNW_004955402:18,464,989...18,489,475 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chrNW_004955402:18,826,400...18,876,188 JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:18632414 PMID:19924139 PMID:20738328 PMID:23381804 PMID:23861362 More... NCBI chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:28492532 NCBI chrNW_004955489:8,888,845...8,944,778
Ensembl chrNW_004955489:8,888,779...8,901,970 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:26555887 PMID:28492532 PMID:31513939 PMID:32112656 NCBI chrNW_004955479:9,633,817...9,661,725
Ensembl chrNW_004955479:9,633,598...9,661,777 		JBrowse link
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:2171331 PMID:8738659 PMID:8878432 PMID:9100224 PMID:9395081 More... NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817 		JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More... NCBI chrNW_004955430:23,481,957...23,536,407
Ensembl chrNW_004955430:23,481,957...23,539,495 		JBrowse link
G Ilk integrin linked kinase ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:29915097 PMID:33874732 NCBI chrNW_004955414:22,316,243...22,322,979
Ensembl chrNW_004955414:22,316,047...22,322,979 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:17509612 PMID:22389502 PMID:24033266 PMID:25500949 PMID:25741868 More... NCBI chrNW_004955445:13,117,312...13,190,061
Ensembl chrNW_004955445:13,118,717...13,187,235 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:21859740 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27662471 More... NCBI chrNW_004955451:15,993,055...16,004,152
Ensembl chrNW_004955451:15,989,180...16,004,155 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 More... NCBI chrNW_004955526:4,330,388...4,465,810
Ensembl chrNW_004955526:4,330,388...4,465,528 		JBrowse link
G Lamp2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:28492532 NCBI chrNW_004955572:1,423,048...1,464,443
Ensembl chrNW_004955572:1,422,981...1,462,622 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:28492532 PMID:29247119 PMID:30847666 PMID:32746448 NCBI chrNW_004955510:5,738,254...5,793,643
Ensembl chrNW_004955510:5,738,041...5,790,557 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:8621584 PMID:9536098 PMID:10580070 PMID:16407522 PMID:16585054 More... NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:25741868 NCBI chrNW_004955442:19,315,427...19,333,361
Ensembl chrNW_004955442:19,315,427...19,333,522 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:203962 PMID:203979 PMID:208206 PMID:208208 PMID:739990 More... NCBI chrNW_004955422:888,529...902,074
Ensembl chrNW_004955422:888,589...901,725 		JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar NCBI chrNW_004955422:26,383,440...26,409,559
Ensembl chrNW_004955422:26,383,174...26,409,559 		JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:08673105 PMID:09535554 PMID:11102452 PMID:11748309 PMID:12404107 More... NCBI chrNW_004955482:7,708,436...7,713,877
Ensembl chrNW_004955482:7,705,912...7,713,870 		JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:8673105 PMID:11174330 PMID:12021217 PMID:16754800 PMID:18409188 More... NCBI chrNW_004955420:25,308,513...25,311,959
Ensembl chrNW_004955420:25,305,759...25,312,271 		JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 OMIM
ClinVar		 PMID:9536098 PMID:11733062 PMID:17576681 PMID:22995991 PMID:23299917 More... NCBI chrNW_004955422:29,141,699...29,154,927
Ensembl chrNW_004955422:29,141,348...29,154,927 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955402:7,293,415...7,418,226
Ensembl chrNW_004955402:7,297,502...7,417,583 		JBrowse link
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955428:21,052,352...21,088,468
Ensembl chrNW_004955428:21,052,137...21,101,795 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:26084686 PMID:28492532 PMID:28798025 PMID:30847666 NCBI chrNW_004955425:20,461,654...20,545,626
Ensembl chrNW_004955425:20,471,047...20,544,105 		JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More... NCBI chrNW_004955429:7,559,994...7,730,683
Ensembl chrNW_004955429:7,358,758...7,725,648 		JBrowse link
G Nexn nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:27486136 PMID:28492532 PMID:28798025 PMID:30531895 More... NCBI chrNW_004955423:15,278,526...15,299,654
Ensembl chrNW_004955423:15,278,526...15,299,659 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chrNW_004955561:340,387...354,499
Ensembl chrNW_004955561:337,902...354,336 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:19955750 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20857253 More... NCBI chrNW_004955505:2,878,001...2,959,299
Ensembl chrNW_004955505:2,878,081...2,958,404 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:10355918 PMID:10820940 PMID:11407343 PMID:11407351 PMID:11586962 More... NCBI chrNW_004955491:5,852,534...6,048,820
Ensembl chrNW_004955491:5,852,082...6,019,318 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:17603482 PMID:17603483 PMID:17603486 PMID:17603487 PMID:17603489 More... NCBI chrNW_004955429:17,980,956...18,049,723
Ensembl chrNW_004955429:18,025,932...18,049,723 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:25163546 PMID:25351510 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955485:590,094...769,604
Ensembl chrNW_004955485:586,373...769,635 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:12459180 PMID:19216760 PMID:19926015 PMID:20132818 PMID:22787013 More... NCBI chrNW_004955492:2,647,597...3,275,512
Ensembl chrNW_004955492:2,648,956...3,076,509 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:8661019 PMID:11823453 PMID:12639704 PMID:15121794 PMID:15689442 More... NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552 		JBrowse link
G Sgcd sarcoglycan delta ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26720722 PMID:28492532 NCBI chrNW_004955408:10,273,344...10,820,108
Ensembl chrNW_004955408:10,273,223...10,819,072 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:24033266 PMID:27763634 PMID:28492532 NCBI chrNW_004955441:6,649,895...6,724,271
Ensembl chrNW_004955441:6,646,385...6,713,028 		JBrowse link
G Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chrNW_004955561:254,876...274,581
Ensembl chrNW_004955561:244,675...274,551 		JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:28492532 PMID:29915097 PMID:33874732 NCBI chrNW_004955414:22,322,954...22,324,412
Ensembl chrNW_004955414:22,323,031...22,324,367 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:10655062 PMID:15582318 PMID:16352453 PMID:16911908 PMID:17097056 More... NCBI chrNW_004955451:14,413,657...14,414,735
Ensembl chrNW_004955451:14,413,657...14,414,735 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:25741868 PMID:26214305 PMID:28492532 PMID:33552729 NCBI chrNW_004955429:16,921,469...16,934,978
Ensembl chrNW_004955429:16,921,469...16,934,978 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10806205 More... NCBI chrNW_004955567:1,037,325...1,042,102
Ensembl chrNW_004955567:1,037,462...1,042,039 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:209262 PMID:541918 PMID:2946667 PMID:7898523 PMID:8205619 More... NCBI chrNW_004955406:37,491,462...37,507,360
Ensembl chrNW_004955406:37,487,154...37,507,639 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chrNW_004955450:12,197,241...12,223,372
Ensembl chrNW_004955450:12,194,755...12,224,011 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis		 ClinVar PMID:18414213 PMID:18948003 PMID:23396983 PMID:23861362 PMID:23975875 More... NCBI chrNW_004955403:18,057,344...18,328,389 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:1355416 PMID:1850190 PMID:1997217 PMID:2174830 PMID:2590199 More... NCBI chrNW_004955402:18,921,235...18,927,976
Ensembl chrNW_004955402:18,921,274...18,928,108 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:28492532 NCBI chrNW_004955442:18,150,060...18,205,775
Ensembl chrNW_004955442:18,152,152...18,204,327 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:20474083 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chrNW_004955437:17,812,998...17,920,253
Ensembl chrNW_004955437:17,813,007...17,920,253 		JBrowse link
hypertrophic cardiomyopathy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2 | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 10 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10 OMIM
ClinVar		 PMID:203862 PMID:08673105 PMID:09535554 PMID:9536098 PMID:9673982 More... NCBI chrNW_004955482:7,708,436...7,713,877
Ensembl chrNW_004955482:7,705,912...7,713,870 		JBrowse link
hypertrophic cardiomyopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actc1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 OMIM
ClinVar		 PMID:676951 PMID:2255271 PMID:9536098 PMID:9563954 PMID:10330430 More... NCBI chrNW_004955416:2,139,541...2,144,678
Ensembl chrNW_004955416:2,137,101...2,145,416 		JBrowse link
G Gjd2 gap junction protein delta 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 ClinVar PMID:18458017 PMID:27125413 PMID:28492532 NCBI chrNW_004955416:2,104,985...2,134,937
Ensembl chrNW_004955416:2,104,985...2,134,937 		JBrowse link
G Lpcat4 lysophosphatidylcholine acyltransferase 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 ClinVar PMID:18458017 PMID:27125413 PMID:28492532 NCBI chrNW_004955416:251,057...257,379
Ensembl chrNW_004955416:249,903...257,434 		JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 ClinVar PMID:18458017 PMID:27125413 PMID:28492532 NCBI chrNW_004955416:272,127...273,068
Ensembl chrNW_004955416:272,127...273,068 		JBrowse link
G Nutm1 NUT midline carcinoma family member 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 ClinVar PMID:18458017 PMID:27125413 PMID:28492532 NCBI chrNW_004955416:258,304...271,670
Ensembl chrNW_004955416:258,202...270,075 		JBrowse link
G Slc12a6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 ClinVar PMID:18458017 PMID:27125413 PMID:28492532 NCBI chrNW_004955416:277,215...375,812
Ensembl chrNW_004955416:276,987...375,812 		JBrowse link
hypertrophic cardiomyopathy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 OMIM
ClinVar		 PMID:8994428 PMID:9039266 PMID:9536098 PMID:12507422 PMID:12642359 More... NCBI chrNW_004955476:155,913...176,122
Ensembl chrNW_004955476:154,917...176,616 		JBrowse link
G Igsf22 immunoglobulin superfamily member 22 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chrNW_004955414:33,364,637...33,378,363 JBrowse link
G Ldha lactate dehydrogenase A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chrNW_004955414:33,087,745...33,100,846 JBrowse link
G LOC102020557 L-lactate dehydrogenase C chain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chrNW_004955414:33,109,535...33,138,756
Ensembl chrNW_004955414:33,110,120...33,138,756 		JBrowse link
G Ptpn5 protein tyrosine phosphatase non-receptor type 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chrNW_004955414:33,381,783...33,436,974
Ensembl chrNW_004955414:33,377,322...33,437,118 		JBrowse link
G Spty2d1 SPT2 chromatin protein domain containing 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chrNW_004955414:33,255,048...33,272,861
Ensembl chrNW_004955414:33,256,850...33,272,556 		JBrowse link
G Tmem86a transmembrane protein 86A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chrNW_004955414:33,357,432...33,361,478
Ensembl chrNW_004955414:33,357,383...33,361,478 		JBrowse link
G Tsg101 tumor susceptibility 101 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chrNW_004955414:33,154,812...33,193,769
Ensembl chrNW_004955414:33,154,812...33,193,769 		JBrowse link
G Uevld UEV and lactate/malate dehyrogenase domains ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chrNW_004955414:33,197,202...33,238,473
Ensembl chrNW_004955414:33,197,202...33,238,473 		JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chrNW_004955476:105,347...152,415
Ensembl chrNW_004955476:105,347...154,615 		JBrowse link
hypertrophic cardiomyopathy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnc1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 13 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 13 OMIM
ClinVar		 PMID:9536098 PMID:11385718 PMID:16302972 PMID:17576681 PMID:18042489 More... NCBI chrNW_004955430:2,438,644...2,441,596
Ensembl chrNW_004955430:2,434,874...2,441,596 		JBrowse link
hypertrophic cardiomyopathy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 ClinVar PMID:25741868 NCBI chrNW_004955510:5,738,254...5,793,643
Ensembl chrNW_004955510:5,738,041...5,790,557 		JBrowse link
hypertrophic cardiomyopathy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcl vinculin ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 15 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 15 | ClinVar Annotator: match by term: VCL-related condition OMIM
ClinVar		 PMID:11815424 PMID:16236538 PMID:16712796 PMID:16949038 PMID:17097056 More... NCBI chrNW_004955437:17,812,998...17,920,253
Ensembl chrNW_004955437:17,813,007...17,920,253 		JBrowse link
hypertrophic cardiomyopathy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 16 | ClinVar Annotator: match by term: MYOZ2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17347475 PMID:17434779 PMID:17576681 PMID:19472918 More... NCBI chrNW_004955428:21,052,352...21,088,468
Ensembl chrNW_004955428:21,052,137...21,101,795 		JBrowse link
hypertrophic cardiomyopathy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 17 | ClinVar Annotator: match by term: JPH2-related condition OMIM
ClinVar		 PMID:17476457 PMID:17509612 PMID:22389502 PMID:22584458 PMID:23757202 More... NCBI chrNW_004955445:13,117,312...13,190,061
Ensembl chrNW_004955445:13,118,717...13,187,235 		JBrowse link
hypertrophic cardiomyopathy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep85l centrosomal protein 85 like ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 18 ClinVar PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16829191 More... NCBI chrNW_004955436:1,352,481...1,482,061
Ensembl chrNW_004955436:1,393,493...1,465,373 		JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 18 OMIM
ClinVar		 PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16829191 More... NCBI chrNW_004955436:1,439,098...1,447,070
Ensembl chrNW_004955436:1,439,098...1,447,070 		JBrowse link
hypertrophic cardiomyopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 2 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2 OMIM
ClinVar		 PMID:181617 PMID:209243 PMID:209262 PMID:541918 PMID:936231 More... NCBI chrNW_004955406:37,491,462...37,507,360
Ensembl chrNW_004955406:37,487,154...37,507,639 		JBrowse link
hypertrophic cardiomyopathy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nexn nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 20 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 | ClinVar Annotator: match by term: NEXN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19881492 PMID:20970104 More... NCBI chrNW_004955423:15,278,526...15,299,654
Ensembl chrNW_004955423:15,278,526...15,299,659 		JBrowse link
hypertrophic cardiomyopathy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 21 ClinVar PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532 PMID:32481709 More... NCBI chrNW_004955450:12,197,241...12,223,372
Ensembl chrNW_004955450:12,194,755...12,224,011 		JBrowse link
hypertrophic cardiomyopathy 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casc3 CASC3 exon junction complex subunit ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,784,915...14,804,191
Ensembl chrNW_004955451:14,784,915...14,806,773 		JBrowse link
G Cdc6 cell division cycle 6 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,857,174...14,871,324
Ensembl chrNW_004955451:14,860,309...14,871,494 		JBrowse link
G Csf3 colony stimulating factor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,442,816...14,456,009
Ensembl chrNW_004955451:14,442,816...14,459,379 		JBrowse link
G Grb7 growth factor receptor bound protein 7 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,463,032...14,470,392
Ensembl chrNW_004955451:14,464,541...14,474,070 		JBrowse link
G Gsdma gasdermin A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,650,342...14,663,609
Ensembl chrNW_004955451:14,650,344...14,663,609 		JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,483,669...14,571,108
Ensembl chrNW_004955451:14,484,132...14,536,916 		JBrowse link
G Lrrc3c leucine rich repeat containing 3C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,644,464...14,647,078
Ensembl chrNW_004955451:14,644,305...14,649,084 		JBrowse link
G Med24 mediator complex subunit 24 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,690,721...14,712,038
Ensembl chrNW_004955451:14,690,952...14,711,965 		JBrowse link
G Mien1 migration and invasion enhancer 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,456,484...14,462,082
Ensembl chrNW_004955451:14,456,484...14,462,082 		JBrowse link
G Msl1 MSL complex subunit 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,769,893...14,783,213
Ensembl chrNW_004955451:14,772,224...14,780,839 		JBrowse link
G Nr1d1 nuclear receptor subfamily 1 group D member 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,743,763...14,750,903
Ensembl chrNW_004955451:14,742,735...14,750,999 		JBrowse link
G Ormdl3 ORMDL sphingolipid biosynthesis regulator 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,621,565...14,627,556
Ensembl chrNW_004955451:14,621,399...14,642,763 		JBrowse link
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,418,923...14,428,032
Ensembl chrNW_004955451:14,418,923...14,428,039 		JBrowse link
G Pnmt phenylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,414,836...14,417,972
Ensembl chrNW_004955451:14,416,121...14,417,901 		JBrowse link
G Psmd3 proteasome 26S subunit, non-ATPase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,666,882...14,685,573
Ensembl chrNW_004955451:14,666,882...14,685,277 		JBrowse link
G Rapgefl1 Rap guanine nucleotide exchange factor like 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,802,094...14,818,096
Ensembl chrNW_004955451:14,809,630...14,816,762 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1N | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25
ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25		 OMIM
ClinVar		 PMID:9536098 PMID:10655062 PMID:12507422 PMID:15582318 PMID:16352453 More... NCBI chrNW_004955451:14,413,657...14,414,735
Ensembl chrNW_004955451:14,413,657...14,414,735 		JBrowse link
G Thra thyroid hormone receptor alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,731,746...14,743,545
Ensembl chrNW_004955451:14,731,746...14,744,367 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 ClinVar PMID:16247757 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955405:34,526,420...34,556,740
Ensembl chrNW_004955405:34,535,306...34,554,835 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1N | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:3144325 PMID:3349559 PMID:9241277 PMID:10806205 PMID:11735257 More... NCBI chrNW_004955567:1,037,325...1,042,102
Ensembl chrNW_004955567:1,037,462...1,042,039 		JBrowse link
G Wipf2 WAS/WASL interacting protein family member 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,821,924...14,856,304
Ensembl chrNW_004955451:14,839,088...14,852,872 		JBrowse link
G Zpbp2 zona pellucida binding protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:28492532 NCBI chrNW_004955451:14,571,707...14,579,890
Ensembl chrNW_004955451:14,571,556...14,579,948 		JBrowse link
hypertrophic cardiomyopathy 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnc filamin C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 15 | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 26 | ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 5 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 OMIM
ClinVar		 PMID:9536098 PMID:15929027 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chrNW_004955479:9,633,817...9,661,725
Ensembl chrNW_004955479:9,633,598...9,661,777 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 ClinVar PMID:10722117 PMID:11939509 PMID:24115288 PMID:25741868 NCBI chrNW_004955414:21,188,012...21,189,363 JBrowse link
Hypertrophic Cardiomyopathy 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk3 alpha kinase 3 ISO ClinVar Annotator: match by term: ALPK3-related condition | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic 27 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21441111 PMID:24033266 PMID:25741868 More... NCBI chrNW_004955416:14,279,831...14,322,836
Ensembl chrNW_004955416:14,277,866...14,322,838 		JBrowse link
Hypertrophic Cardiomyopathy 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 28 | ClinVar Annotator: match by term: FHOD3-related condition OMIM
ClinVar		 PMID:24088304 PMID:25741868 PMID:28492532 PMID:30442288 PMID:30898215 More... NCBI chrNW_004955402:22,822,060...23,277,993
Ensembl chrNW_004955402:22,821,710...23,279,222 		JBrowse link
Hypertrophic Cardiomyopathy 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl24 kelch like family member 24 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies OMIM
ClinVar		 PMID:30715372 NCBI chrNW_004955420:23,700,030...23,733,021
Ensembl chrNW_004955420:23,700,035...23,735,301 		JBrowse link
hypertrophic cardiomyopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 3 OMIM
ClinVar		 PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chrNW_004955450:12,197,241...12,223,372
Ensembl chrNW_004955450:12,194,755...12,224,011 		JBrowse link
hypertrophic cardiomyopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar PMID:25741868 NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Dnaaf3 dynein axonemal assembly factor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chrNW_004955567:1,030,467...1,036,562
Ensembl chrNW_004955567:1,030,691...1,036,283 		JBrowse link
G Madd MAP kinase activating death domain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chrNW_004955422:902,969...940,201
Ensembl chrNW_004955422:902,969...940,201 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 4, susceptibility to | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: MYBPC3-related condition OMIM
ClinVar		 PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:747929 More... NCBI chrNW_004955422:888,529...902,074
Ensembl chrNW_004955422:888,589...901,725 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chrNW_004955456:13,353,780...13,363,956
Ensembl chrNW_004955456:13,354,011...13,363,891 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chrNW_004955492:2,647,597...3,275,512
Ensembl chrNW_004955492:2,648,956...3,076,509 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar PMID:12507422 PMID:15582318 PMID:28492532 NCBI chrNW_004955451:14,413,657...14,414,735
Ensembl chrNW_004955451:14,413,657...14,414,735 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 ClinVar NCBI chrNW_004955567:1,037,325...1,042,102
Ensembl chrNW_004955567:1,037,462...1,042,039 		JBrowse link
hypertrophic cardiomyopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 6 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 6 OMIM
ClinVar		 PMID:7657794 PMID:10355918 PMID:10820940 PMID:11371514 PMID:11407343 More... NCBI chrNW_004955491:5,852,534...6,048,820
Ensembl chrNW_004955491:5,852,082...6,019,318 		JBrowse link
hypertrophic cardiomyopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf3 dynein axonemal assembly factor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955567:1,030,467...1,036,562
Ensembl chrNW_004955567:1,030,691...1,036,283 		JBrowse link
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 ClinVar PMID:30442288 NCBI chrNW_004955402:22,822,060...23,277,993
Ensembl chrNW_004955402:22,821,710...23,279,222 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 7 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 OMIM
ClinVar		 PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10731705 More... NCBI chrNW_004955567:1,037,325...1,042,102
Ensembl chrNW_004955567:1,037,462...1,042,039 		JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955567:1,039,625...1,050,581
Ensembl chrNW_004955567:1,043,026...1,055,039 		JBrowse link
hypertrophic cardiomyopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 8 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 8 OMIM
ClinVar		 PMID:6211078 PMID:08673105 PMID:9536098 PMID:11174330 PMID:12021217 More... NCBI chrNW_004955420:25,308,513...25,311,959
Ensembl chrNW_004955420:25,305,759...25,312,271 		JBrowse link
hypertrophic cardiomyopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 ClinVar PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chrNW_004955437:9,915,371...9,924,886
Ensembl chrNW_004955437:9,913,867...9,924,886 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 ClinVar PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chrNW_004955437:9,346,397...9,350,591
Ensembl chrNW_004955437:9,346,397...9,350,591 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9 OMIM
ClinVar		 PMID:9536098 PMID:10462489 PMID:11310621 PMID:16084088 PMID:17344846 More... NCBI chrNW_004955403:18,057,344...18,328,389 JBrowse link
Immunodeficiency 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fnip1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 93 and hypertrophic cardiomyopathy OMIM
ClinVar		 PMID:32181500 PMID:32905580 NCBI chrNW_004955408:3,117,258...3,238,223
Ensembl chrNW_004955408:3,117,277...3,238,223 		JBrowse link
G Rapgef6 Rap guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Immunodeficiency 93 and hypertrophic cardiomyopathy ClinVar PMID:32905580 NCBI chrNW_004955408:2,902,530...3,109,273
Ensembl chrNW_004955408:2,902,530...3,109,273 		JBrowse link
Keutel Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mgp matrix Gla protein ISO ClinVar Annotator: match by term: Keutel syndrome | ClinVar Annotator: match by term: Pulmonic stenosis brachytelephalangism and calcification of cartilages OMIM
ClinVar		 PMID:9916809 PMID:15810001 PMID:25741868 PMID:25741914 PMID:28492532 NCBI chrNW_004955413:11,614,851...11,618,090
Ensembl chrNW_004955413:11,615,078...11,618,024 		JBrowse link
Left Ventricular Outflow Obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chrNW_004955451:2,458,612...2,466,264
Ensembl chrNW_004955451:2,457,568...2,466,639 		JBrowse link
mitochondrial complex IV deficiency nuclear type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102028200 cytochrome c oxidase assembly factor 6 homolog ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 OMIM
ClinVar		 PMID:22277967 PMID:24549041 PMID:25339201 PMID:25741868 PMID:25959673 More... NCBI chrNW_004955492:5,316,594...5,324,913 JBrowse link
mitochondrial complex IV deficiency nuclear type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102006450 cytochrome c oxidase assembly factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955470:5,042,072...5,051,007
Ensembl chrNW_004955470:5,042,072...5,051,007 		JBrowse link
G LOC102017801 cytochrome c oxidase assembly protein COX15 homolog ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955507:5,600,605...5,617,556
Ensembl chrNW_004955507:5,600,605...5,617,556 		JBrowse link
G LOC102028200 cytochrome c oxidase assembly factor 6 homolog ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955492:5,316,594...5,324,913 JBrowse link
G LOC106146232 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 OMIM
ClinVar		 PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:12529715 More... NCBI chrNW_004955413:33,503,882...33,505,417 JBrowse link
G Ncaph2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 ClinVar PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 More... NCBI chrNW_004955413:33,492,348...33,503,804 JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955413:33,505,424...33,509,095
Ensembl chrNW_004955413:33,505,446...33,508,748 		JBrowse link
mitochondrial complex IV deficiency nuclear type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102017801 cytochrome c oxidase assembly protein COX15 homolog ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 OMIM
ClinVar		 PMID:2175025 PMID:9536098 PMID:12474143 PMID:15235026 PMID:15863660 More... NCBI chrNW_004955507:5,600,605...5,617,556
Ensembl chrNW_004955507:5,600,605...5,617,556 		JBrowse link
mitochondrial complex IV deficiency nuclear type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102006450 cytochrome c oxidase assembly factor 5 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 OMIM
ClinVar		 PMID:21457908 NCBI chrNW_004955470:5,042,072...5,051,007
Ensembl chrNW_004955470:5,042,072...5,051,007 		JBrowse link
Noonan syndrome with multiple lentigines term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines ClinVar PMID:17704260 PMID:18042262 PMID:19206169 PMID:19416762 PMID:20301557 More... NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Epha2 EPH receptor A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22845314 NCBI chrNW_004955527:2,120,447...2,151,932
Ensembl chrNW_004955527:2,120,266...2,152,781 		JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines ClinVar PMID:17366577 PMID:24033266 PMID:24719372 PMID:28492532 PMID:30773290 NCBI chrNW_004955495:4,695,239...4,718,380
Ensembl chrNW_004955495:4,695,768...4,722,098 		JBrowse link
G Ppp1r13l protein phosphatase 1 regulatory subunit 13 like ISO ClinVar Annotator: match by term: Cardio-cutaneous syndrome ClinVar PMID:28069640 NCBI chrNW_004955555:2,373,088...2,390,973
Ensembl chrNW_004955555:2,372,259...2,389,626 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685670 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME | ClinVar Annotator: match by term: Multiple lentigines syndrome | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines ClinVar PMID:1635821 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 More... NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines ClinVar PMID:1760348 PMID:10064593 PMID:11447113 PMID:17603482 PMID:17603483 More... NCBI chrNW_004955429:17,980,956...18,049,723
Ensembl chrNW_004955429:18,025,932...18,049,723 		JBrowse link
Noonan syndrome with multiple lentigines 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: LEOPARD syndrome 1 OMIM
ClinVar		 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 PMID:4746100 More... NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203 		JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: LEOPARD syndrome 1 ClinVar NCBI chrNW_004955482:8,917,777...8,923,150 JBrowse link
Noonan syndrome with multiple lentigines 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mkrn2 makorin ring finger protein 2 ISO ClinVar Annotator: match by term: LEOPARD syndrome 2 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955429:18,049,617...18,070,526
Ensembl chrNW_004955429:18,049,624...18,071,185 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: LEOPARD syndrome 2 OMIM
ClinVar		 PMID:1760348 PMID:9536098 PMID:10064593 PMID:10497893 PMID:14701845 More... NCBI chrNW_004955429:17,980,956...18,049,723
Ensembl chrNW_004955429:18,025,932...18,049,723 		JBrowse link
G Tmem40 transmembrane protein 40 ISO ClinVar Annotator: match by term: LEOPARD syndrome 2 ClinVar NCBI chrNW_004955429:17,932,390...17,953,052
Ensembl chrNW_004955429:17,939,197...17,952,505 		JBrowse link
Noonan syndrome with multiple lentigines 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: LEOPARD syndrome 3 OMIM
ClinVar		 PMID:2500657 PMID:11313766 PMID:12068308 PMID:12810628 PMID:12960123 More... NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
nuclear type mitochondrial complex I deficiency 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad9 acyl-CoA dehydrogenase family member 9 ISO ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency OMIM
ClinVar		 PMID:7599230 PMID:9536098 PMID:16199547 PMID:17564966 PMID:17576681 More... NCBI chrNW_004955450:10,576,615...10,603,779 JBrowse link
G Cbs cystathionine beta-synthase ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:10338090 PMID:14972327 PMID:16786517 PMID:22267502 PMID:23981774 More... NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:16909394 PMID:17345604 PMID:20690115 PMID:21866095 PMID:25741868 More... NCBI chrNW_004955405:25,533,037...25,607,021
Ensembl chrNW_004955405:25,533,525...25,606,212 		JBrowse link
G Cfap92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20929961 PMID:21057504 More... NCBI chrNW_004955450:10,532,347...10,593,351 JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:22425360 PMID:22693042 PMID:24178751 PMID:25407461 PMID:25533962 More... NCBI chrNW_004955426:21,867,876...21,991,889
Ensembl chrNW_004955426:21,868,017...21,983,747 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:8655135 PMID:9562578 PMID:11499718 PMID:12881443 PMID:12951062 More... NCBI chrNW_004955422:888,529...902,074
Ensembl chrNW_004955422:888,589...901,725 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:15542397 PMID:19105186 PMID:19877282 PMID:24016303 PMID:25741868 More... NCBI chrNW_004955437:8,945,842...8,964,870
Ensembl chrNW_004955437:8,947,002...8,960,371 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:25607374 PMID:25741868 PMID:28492532 NCBI chrNW_004955528:531,680...578,003
Ensembl chrNW_004955528:532,385...572,398 		JBrowse link
pulmonary valve stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:63,312,588...63,346,307
Ensembl chrNW_004955402:63,311,741...63,347,641 		JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:62,231,875...62,537,311
Ensembl chrNW_004955402:62,231,875...62,537,311 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Pulmonic stenosis ClinVar PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More... NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Pulmonic stenosis ClinVar PMID:28492532 NCBI chrNW_004955454:4,573,647...5,199,046
Ensembl chrNW_004955454:4,490,923...5,198,506 		JBrowse link
G Cbln2 cerebellin 2 precursor ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:56,052,340...56,062,190
Ensembl chrNW_004955402:56,051,496...56,062,190 		JBrowse link
G Ccdc186 coiled-coil domain containing 186 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:33259146 NCBI chrNW_004955431:19,120,937...19,171,332
Ensembl chrNW_004955431:19,121,167...19,161,092 		JBrowse link
G Cd226 CD226 molecule ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:53,408,861...53,560,896
Ensembl chrNW_004955402:53,473,131...53,560,924 		JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:57,970,205...58,019,980
Ensembl chrNW_004955402:57,970,161...58,019,479 		JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:57,939,003...57,960,056
Ensembl chrNW_004955402:57,938,276...57,960,056 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:62,817,822...62,914,250
Ensembl chrNW_004955402:62,817,974...62,914,276 		JBrowse link
G CUNH18orf63 chromosome unknown C18orf63 homolog ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:57,753,626...57,805,255
Ensembl chrNW_004955402:57,753,018...57,805,495 		JBrowse link
G Dipk1c divergent protein kinase domain 1C ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:57,878,727...57,899,315 JBrowse link
G Dok6 docking protein 6 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:53,029,311...53,454,223
Ensembl chrNW_004955402:53,029,420...53,448,138 		JBrowse link
G Fbxo15 F-box protein 15 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:57,524,726...57,586,198
Ensembl chrNW_004955402:57,523,696...57,586,251 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:60,449,660...60,559,549
Ensembl chrNW_004955402:60,546,186...60,559,298 		JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Pulmonic stenosis ClinVar PMID:18055909 PMID:20981092 PMID:25741868 PMID:27535533 PMID:28492532 NCBI chrNW_004955403:52,958,318...53,029,267
Ensembl chrNW_004955403:52,987,644...53,029,267 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Pulmonic stenosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333 		JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:62,997,807...63,033,813 JBrowse link
G LOC102012144 cytochrome b5 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:57,701,931...57,739,163
Ensembl chrNW_004955402:57,701,931...57,739,163 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Pulmonic stenosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,493,299...11,507,022
Ensembl chrNW_004955476:11,491,688...11,506,700 		JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:60,324,060...60,448,926
Ensembl chrNW_004955402:60,323,950...60,441,406 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Pulmonic stenosis ClinVar PMID:25741868 PMID:28492532 PMID:34498425 NCBI chrNW_004955442:528,317...644,252
Ensembl chrNW_004955442:528,880...644,264 		JBrowse link
G Neto1 neuropilin and tolloid like 1 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:56,262,137...56,376,105
Ensembl chrNW_004955402:56,262,137...56,376,142 		JBrowse link
G Nfatc1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:62,558,392...62,674,347
Ensembl chrNW_004955402:62,558,286...62,674,457 		JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:63,374,837...63,459,327
Ensembl chrNW_004955402:63,374,837...63,459,333 		JBrowse link
G Ptgr3 prostaglandin reductase 3 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:58,634,433...58,642,498
Ensembl chrNW_004955402:58,632,530...58,642,007 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:63,213,097...63,224,252
Ensembl chrNW_004955402:63,213,081...63,230,907 		JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:53,600,985...53,753,218
Ensembl chrNW_004955402:53,600,985...53,753,459 		JBrowse link
G Sall3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:62,157,988...62,163,977
Ensembl chrNW_004955402:62,157,970...62,163,057 		JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:63,035,932...63,073,981
Ensembl chrNW_004955402:63,035,932...63,073,980 		JBrowse link
G Socs6 suppressor of cytokine signaling 6 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:53,847,859...53,876,245
Ensembl chrNW_004955402:53,852,510...53,876,245 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Pulmonic stenosis ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... NCBI chrNW_004955441:6,649,895...6,724,271
Ensembl chrNW_004955441:6,646,385...6,713,028 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Pulmonic stenosis ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chrNW_004955489:4,817,753...4,819,858
Ensembl chrNW_004955489:4,817,753...4,819,131 		JBrowse link
G Timm21 translocase of inner mitochondrial membrane 21 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:57,586,651...57,598,817
Ensembl chrNW_004955402:57,586,998...57,599,869 		JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Pulmonic stenosis ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chrNW_004955462:10,925,383...10,973,814
Ensembl chrNW_004955462:10,925,383...10,973,814 		JBrowse link
G Tshz1 teashirt zinc finger homeobox 1 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:58,695,150...58,717,926 JBrowse link
G Txnl4a thioredoxin like 4A ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:63,153,274...63,166,208
Ensembl chrNW_004955402:63,153,052...63,166,199 		JBrowse link
G Znf236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:60,185,687...60,315,589
Ensembl chrNW_004955402:60,185,646...60,315,584 		JBrowse link
G Znf407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:58,036,270...58,507,506 JBrowse link
G Znf516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:59,750,682...59,874,987
Ensembl chrNW_004955402:59,752,106...59,874,743 		JBrowse link
G Znf516-dt ZNF516 divergent transcript ISO ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chrNW_004955402:59,875,642...59,912,201 JBrowse link
G Znf526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Pulmonic stenosis ClinVar PMID:25558065 PMID:25741868 NCBI chrNW_004955555:678,735...682,967
Ensembl chrNW_004955555:678,735...682,967 		JBrowse link
Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igfbp7 insulin like growth factor binding protein 7 ISO ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravascular pulmonic stenosis OMIM
ClinVar		 PMID:12441727 PMID:21835307 PMID:25741868 PMID:25741915 NCBI chrNW_004955447:14,048,834...14,110,264
Ensembl chrNW_004955447:14,047,732...14,108,414 		JBrowse link
Right Ventricular Outflow Obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human)
DNA:SNP:promoter:rs4455026(c.‐1028G>C)(human)		 RGD PMID:30262811 PMID:30525309 RGD:401794414 RGD:401794416 NCBI chrNW_004955451:2,458,612...2,466,264
Ensembl chrNW_004955451:2,457,568...2,466,639 		JBrowse link
Sensorineural Deafness with Hypertrophic Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Sensorineural deafness with hypertrophic cardiomyopathy ClinVar PMID:15060111 PMID:18212818 PMID:18348273 PMID:24033266 PMID:28492532 NCBI chrNW_004955502:4,219,067...4,356,988
Ensembl chrNW_004955502:4,218,885...4,356,988 		JBrowse link
SHONE COMPLEX term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Shone complex ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259 		JBrowse link
subvalvular aortic stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Subvalvular aortic stenosis ClinVar PMID:25741868 PMID:28492532 PMID:31983221 NCBI chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1965992 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386 		JBrowse link
Subvalvular Aortic Stenosis, Eisenberg Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Subvalvular aortic stenosis, Eisenberg type ClinVar PMID:25741868 PMID:28492532 PMID:31983221 NCBI chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207 		JBrowse link
Supravalvar Aortic Stenosis, Eisenberg Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO ClinVar Annotator: match by term: Supravalvar aortic stenosis, Eisenberg type ClinVar PMID:11175284 PMID:16199547 PMID:25741868 PMID:28492532 PMID:30029678 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
supravalvular aortic stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd11 abhydrolase domain containing 11 ISO ClinVar Annotator: match by term: Supravalvar aortic stenosis ClinVar PMID:7557968 PMID:7611295 PMID:7726172 PMID:8968740 PMID:10627943 More... NCBI chrNW_004955456:14,019,073...14,021,536
Ensembl chrNW_004955456:14,018,109...14,021,483 		JBrowse link
G Casq2 calsequestrin 2 onset ISO mRNA:decreased expression:left ventricle myocardium RGD PMID:1531837 RGD:6771235 NCBI chrNW_004955435:18,941,975...18,996,027
Ensembl chrNW_004955435:18,941,936...18,996,200 		JBrowse link
G Cldn4 claudin 4 ISO ClinVar Annotator: match by term: Supravalvar aortic stenosis ClinVar PMID:7557968 PMID:7611295 PMID:7726172 PMID:8968740 PMID:10627943 More... NCBI chrNW_004955456:13,961,743...13,965,498
Ensembl chrNW_004955456:13,962,497...13,963,126 		JBrowse link
G Eif4h eukaryotic translation initiation factor 4H ISO ClinVar Annotator: match by term: Supravalvar aortic stenosis ClinVar PMID:7557968 PMID:7611295 PMID:7726172 PMID:8968740 PMID:10627943 More... NCBI chrNW_004955456:13,699,012...13,710,065
Ensembl chrNW_004955456:13,699,012...13,725,393 		JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: ELN-related condition | ClinVar Annotator: match by term: Supravalvar aortic stenosis OMIM
ClinVar		 PMID:7557968 PMID:7611295 PMID:7726172 PMID:7884000 PMID:8132745 More... NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Supravalvar aortic stenosis ClinVar PMID:7557968 PMID:7611295 PMID:7726172 PMID:8968740 PMID:10627943 More... NCBI chrNW_004955456:13,751,135...13,773,722
Ensembl chrNW_004955456:13,750,889...13,774,021 		JBrowse link
G Mettl27 methyltransferase like 27 ISO ClinVar Annotator: match by term: Supravalvar aortic stenosis ClinVar PMID:7557968 PMID:7611295 PMID:7726172 PMID:8968740 PMID:10627943 More... NCBI chrNW_004955456:13,955,257...13,959,758
Ensembl chrNW_004955456:13,956,294...13,960,213 		JBrowse link
G Tmem270 transmembrane protein 270 ISO ClinVar Annotator: match by term: Supravalvar aortic stenosis ClinVar PMID:7557968 PMID:7611295 PMID:7726172 PMID:8968740 PMID:10627943 More... NCBI chrNW_004955456:13,947,773...13,953,965 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 chrNW_004955492:3,483,704...3,554,831
Ensembl chrNW_004955492:3,483,511...3,555,190 		JBrowse link
G Bmp10 bone morphogenetic protein 10 ISO OMIM:187500 MouseDO NCBI chrNW_004955424:16,124,526...16,130,723
Ensembl chrNW_004955424:16,124,464...16,134,012 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chrNW_004955445:2,154,057...2,235,594
Ensembl chrNW_004955445:2,153,170...2,235,795 		JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:25741868 PMID:28492532 NCBI chrNW_004955524:2,788,672...2,798,068
Ensembl chrNW_004955524:2,788,653...2,796,370 		JBrowse link
G Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO OMIM:187500 MouseDO NCBI chrNW_004955436:20,370,950...20,372,677
Ensembl chrNW_004955436:20,370,950...20,372,677 		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 chrNW_004955561:1,423,229...1,430,679
Ensembl chrNW_004955561:1,423,405...1,433,314 		JBrowse link
G Dnah5 dynein axonemal heavy chain 5 ISO OMIM:187500 MouseDO NCBI chrNW_004955426:3,105,631...3,406,587
Ensembl chrNW_004955426:3,106,410...3,353,502 		JBrowse link
G Dock1 dedicator of cytokinesis 1 ISO OMIM:187500 MouseDO NCBI chrNW_004955477:4,725,780...5,243,812
Ensembl chrNW_004955477:4,725,039...5,243,866 		JBrowse link
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chrNW_004955573:132,328...150,879
Ensembl chrNW_004955573:132,328...152,595 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO OMIM:187500 MouseDO NCBI chrNW_004955485:8,517,412...8,521,732
Ensembl chrNW_004955485:8,517,412...8,521,770 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chrNW_004955479:9,633,817...9,661,725
Ensembl chrNW_004955479:9,633,598...9,661,777 		JBrowse link
G Flt4 fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chrNW_004955408:98,995...137,922
Ensembl chrNW_004955408:107,056...140,056 		JBrowse link
G Foxh1 forkhead box H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chrNW_004955454:3,094,015...3,096,060
Ensembl chrNW_004955454:3,094,033...3,095,512 		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 chrNW_004955403:52,958,318...53,029,267
Ensembl chrNW_004955403:52,987,644...53,029,267 		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 chrNW_004955528:1,595,231...1,604,979
Ensembl chrNW_004955528:1,595,231...1,604,979 		JBrowse link
G Gja1 gap junction protein alpha 1 ISO RGD PMID:16010294 RGD:1582666 NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095 		JBrowse link
G Gja5 gap junction protein alpha 5 ISO DNA:duplications
OMIM:187500		 RGD
MouseDO		 PMID:22199024 RGD:7207464 NCBI chrNW_004955568:635,319...652,692
Ensembl chrNW_004955568:635,042...653,349 		JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chrNW_004955403:33,478,034...33,481,613
Ensembl chrNW_004955403:33,478,924...33,481,608 		JBrowse link
G Hey2 hes related family bHLH transcription factor with YRPW motif 2 ISO OMIM:187500 MouseDO NCBI chrNW_004955436:7,060,930...7,070,610
Ensembl chrNW_004955436:7,060,930...7,070,030 		JBrowse link
G Invs inversin ISO OMIM:187500 MouseDO NCBI chrNW_004955419:25,445,404...25,584,244
Ensembl chrNW_004955419:25,444,582...25,581,201 		JBrowse link
G Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chrNW_004955504:937,152...940,842
Ensembl chrNW_004955504:937,621...940,787 		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 chrNW_004955415:20,490,414...20,526,068
Ensembl chrNW_004955415:20,490,414...20,527,917 		JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583 		JBrowse link
G LOC102009660 protein HIRA ISO mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chrNW_004955442:18,581,370...18,673,590
Ensembl chrNW_004955442:18,581,370...18,673,761 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO OMIM:187500 MouseDO NCBI chrNW_004955451:4,805,542...4,818,233
Ensembl chrNW_004955451:4,804,838...4,821,556 		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 chrNW_004955466:5,422,141...5,485,773
Ensembl chrNW_004955466:5,420,702...5,485,773 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240 		JBrowse link
G Nipbl NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chrNW_004955426:21,666,958...21,841,515
Ensembl chrNW_004955426:21,666,857...21,841,515 		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 chrNW_004955408:25,833,649...25,836,673
Ensembl chrNW_004955408:25,832,683...25,836,840 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259 		JBrowse link
G Nrp1 neuropilin 1 susceptibility ISO DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chrNW_004955462:4,101,997...4,241,012
Ensembl chrNW_004955462:4,101,999...4,241,012 		JBrowse link
G Ntf3 neurotrophin 3 ISO OMIM:187500 MouseDO NCBI chrNW_004955413:3,207,669...3,273,371
Ensembl chrNW_004955413:3,207,123...3,273,491 		JBrowse link
G Phc1 polyhomeotic homolog 1 ISO OMIM:187500 MouseDO NCBI chrNW_004955413:6,156,934...6,176,460 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 chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203 		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 chrNW_004955546:1,221,995...1,252,147
Ensembl chrNW_004955546:1,221,995...1,253,946 		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 chrNW_004955407:12,593,911...13,485,723
Ensembl chrNW_004955407:13,107,235...13,487,053 		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 chrNW_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337 		JBrowse link
G Tbx20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter
mRNA:increased expression:heart (human)		 RGD PMID:18275040 PMID:31138201 RGD:155882584 RGD:155882585 NCBI chrNW_004955460:7,794,313...7,856,906
Ensembl chrNW_004955460:7,794,313...7,856,906 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chrNW_004955450:12,197,241...12,223,372
Ensembl chrNW_004955450:12,194,755...12,224,011 		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 chrNW_004955417:28,931,428...29,268,778
Ensembl chrNW_004955417:28,920,210...29,269,271 		JBrowse link
Watson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots OMIM
ClinVar		 PMID:190611 PMID:1302608 PMID:1568246 PMID:1757093 PMID:1783401 More... NCBI chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179 		JBrowse link
Williams-Beuren syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd11 abhydrolase domain containing 11 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,019,073...14,021,536
Ensembl chrNW_004955456:14,018,109...14,021,483 		JBrowse link
G Baz1b bromodomain adjacent to zinc finger domain 1B ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,185,091...14,242,391
Ensembl chrNW_004955456:14,185,107...14,240,688 		JBrowse link
G Bcl7b BAF chromatin remodeling complex subunit BCL7B ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,149,484...14,166,753
Ensembl chrNW_004955456:14,148,868...14,167,653 		JBrowse link
G Bud23 BUD23 rRNA methyltransferase and ribosome maturation factor ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,047,409...14,057,483
Ensembl chrNW_004955456:14,047,409...14,057,939 		JBrowse link
G Cldn4 claudin 4 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:13,961,743...13,965,498
Ensembl chrNW_004955456:13,962,497...13,963,126 		JBrowse link
G Clip2 CAP-Gly domain containing linker protein 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:13,593,322...13,631,809
Ensembl chrNW_004955456:13,594,336...13,626,012 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO CTD Direct Evidence: marker/mechanism
OMIM:194050		 CTD
MouseDO		 PMID:20952458 NCBI chrNW_004955467:9,691,733...9,715,872
Ensembl chrNW_004955467:9,690,469...9,715,872 		JBrowse link
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,057,517...14,058,729
Ensembl chrNW_004955456:14,057,620...14,058,303 		JBrowse link
G Eif4h eukaryotic translation initiation factor 4H ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:13,699,012...13,710,065
Ensembl chrNW_004955456:13,699,012...13,725,393 		JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB | ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:10942104 PMID:25741868 PMID:28492532 PMID:31829210 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Fkbp6 FKBP prolyl isomerase family member 6 (inactive) ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,291,445...14,318,310
Ensembl chrNW_004955456:14,291,260...14,318,310 		JBrowse link
G Fzd3 frizzled class receptor 3 ISO maps to 2 Mb in chromosome band 7q11.23 deleted in WS RGD PMID:9147651 RGD:1582654 NCBI chrNW_004955403:50,899,658...50,959,077
Ensembl chrNW_004955403:50,899,523...50,959,071 		JBrowse link
G Fzd9 frizzled class receptor 9 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,245,994...14,247,551
Ensembl chrNW_004955456:14,246,324...14,247,550 		JBrowse link
G Gtf2i general transcription factor IIi ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:13,371,306...13,461,846
Ensembl chrNW_004955456:13,369,772...13,446,815 		JBrowse link
G Gtf2ird1 GTF2I repeat domain containing 1 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:13,494,644...13,564,826
Ensembl chrNW_004955456:13,492,496...13,564,826 		JBrowse link
G Lat2 linker for activation of T cells family member 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:13,674,190...13,688,611 JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:13,751,135...13,773,722
Ensembl chrNW_004955456:13,750,889...13,774,021 		JBrowse link
G Lox lysyl oxidase ISO OMIM:194050 MouseDO NCBI chrNW_004955521:178,290...193,926
Ensembl chrNW_004955521:185,792...193,926 		JBrowse link
G Mettl27 methyltransferase like 27 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:13,955,257...13,959,758
Ensembl chrNW_004955456:13,956,294...13,960,213 		JBrowse link
G Mlxipl MLX interacting protein like ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955456:14,096,530...14,116,687
Ensembl chrNW_004955456:14,096,531...14,117,269 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO DNA:deletion RGD PMID:16532385 RGD:1624399 NCBI chrNW_004955456:13,353,780...13,363,956
Ensembl chrNW_004955456:13,354,011...13,363,891 		JBrowse link
G Nsun5 NOP2/Sun RNA methyltransferase 5 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,331,890...14,336,650
Ensembl chrNW_004955456:14,331,924...14,335,973 		JBrowse link
G Rcc1l RCC1 like ISO RGD PMID:12073013 RGD:1580600 NCBI chrNW_004955456:13,285,753...13,300,244
Ensembl chrNW_004955456:13,286,459...13,300,182 		JBrowse link
G Rfc2 replication factor C subunit 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:13,659,122...13,671,405
Ensembl chrNW_004955456:13,659,157...13,671,181 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO OMIM:194050 MouseDO NCBI chrNW_004955445:19,213,210...19,227,670
Ensembl chrNW_004955445:19,215,161...19,228,695 		JBrowse link
G Stx1a syntaxin 1A ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,030,233...14,046,456
Ensembl chrNW_004955456:14,030,226...14,046,456 		JBrowse link
G Tbl2 transducin beta like 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,128,847...14,134,314
Ensembl chrNW_004955456:14,128,188...14,134,314 		JBrowse link
G Tmem270 transmembrane protein 270 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:13,947,773...13,953,965 JBrowse link
G Vps37d VPS37D subunit of ESCRT-I ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chrNW_004955456:14,064,197...14,067,571 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      cardiovascular system disease 4073
        heart disease 2851
          Ventricular Outflow Obstruction 405
            Left Ventricular Outflow Obstruction 1
            Right Ventricular Outflow Obstruction 1
            aortic valve stenosis + 327
            pulmonary valve stenosis + 92
paths to the root