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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 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 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: Hereditary ventricular hypertrophy | 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:25965631 PMID:26857240 PMID:28492532 PMID:33673806 More... 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:17310097 PMID:22581653 PMID:24681347 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: 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 Annotator: match by term: Hereditary ventricular hypertrophy | 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:25163546 PMID:25351510 PMID:25741868 PMID:28492532 PMID:30847666 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: Hereditary ventricular hypertrophy | 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:25741868 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: Hereditary ventricular hypertrophy 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:676951 PMID:2255271 PMID:9536098 PMID:9563954 PMID:10494087 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:25741868 PMID:26846950 PMID:27106955 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 PMID:25741868 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:23143600 PMID:25820463 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 Htr2b 5-hydroxytryptamine receptor 2B ISO MouseDO NCBI chrNW_004955453:4,352,278...4,367,807
Ensembl chrNW_004955453:4,351,668...4,367,807
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:23143600 PMID:25820463 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 Mtpn myotrophin ISO MouseDO NCBI chrNW_004955494:6,805,518...6,844,454
Ensembl chrNW_004955494:6,805,262...6,845,394
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:9536098 PMID:9724616 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:9927691 PMID:10948063 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:23143600 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 Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:32722639 NCBI chrNW_004955524:2,426,604...2,433,682
Ensembl chrNW_004955524:2,426,604...2,433,679
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:26659360 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:9536098 PMID:10355918 PMID:10368461 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:19574547 PMID:28492532 PMID:30924982 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:23143600 PMID:25820463 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:19574547 PMID:28492532 PMID:30924982 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:23143600 PMID:25820463 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 Tln2 talin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955450:12,391,049...12,740,232
Ensembl chrNW_004955450:12,394,377...12,728,925
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:209262 PMID:541918 PMID:2003160 PMID:2946667 PMID:7898523 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:2349941 PMID:7868124 PMID:14640030 PMID:20840742 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 Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chrNW_004955450:13,016,933...13,178,797
Ensembl chrNW_004955450:13,016,950...13,174,990
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: 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 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 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: 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
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 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: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 Annotator: match by term: 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:25246303 PMID:25965631 PMID:26857240 PMID:28492532 PMID:33673806 More... 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 Annotator: match by term: Hypertrophic cardiomyopathy 1 | 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 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar PMID:15368194 PMID:16487223 PMID:17310097 PMID:22581653 PMID:24681347 More... NCBI chrNW_004955407:33,734,969...33,736,609
Ensembl chrNW_004955407:33,735,148...33,735,513
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: Idiopathic hypertrophic subaortic stenosis 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 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: Familial hypertrophic cardiomyopathy 1 | 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