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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


show annotations for term's descendants           Sort by:
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 IEP
IMP		 protein:increased expression:myocardium: RGD PMID:23168040 PMID:23168040 RGD:14390160, RGD:14390160 NCBI chr18:3,507,011...3,516,404
Ensembl chr18:3,507,923...3,516,404 		JBrowse link
G Hoxb1 homeobox B1 IMP RGD PMID:26284287 RGD:11052805 NCBI chr11:96,256,547...96,259,082
Ensembl chr11:96,256,578...96,259,082 		JBrowse link
G Ins2 insulin II ISO CTD Direct Evidence: marker/mechanism CTD PMID:8660453 NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118 		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 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434 NCBI chr 2:27,776,393...27,929,522
Ensembl chr 2:27,776,437...27,929,526 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057 		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 chr 2:179,966,881...179,977,296
Ensembl chr 2:179,966,926...179,976,492 		JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:23969418 RGD:12792206 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Notch1 notch 1 ISO DNA:nonsense mutation, deletion:cds:p.R1108X, p.H1505Xfs (human)
ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition		 ClinVar
OMIM
RGD		 PMID:9536098 PMID:15472075 PMID:16025100 PMID:16614245 PMID:16729972 More... RGD:1580758 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28492532 PMID:30796334 NCBI chr 9:63,860,358...63,929,374
Ensembl chr 9:63,860,358...63,929,341 		JBrowse link
G Tbx20 T-box 20 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28553164 More... NCBI chr 9:24,632,108...24,685,580
Ensembl chr 9:24,629,434...24,685,599 		JBrowse link
aortic valve stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb1 adrenergic receptor, beta 1 ISO RGD PMID:1648674 RGD:7241565 NCBI chr19:56,710,549...56,713,582
Ensembl chr19:56,710,631...56,721,545 		JBrowse link
G Apob apolipoprotein B ISO RGD PMID:11903341 RGD:1578425 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835 		JBrowse link
G Bambi BMP and activin membrane-bound inhibitor ISO protein:increased expression:myocardium: RGD PMID:23168040 RGD:14390160 NCBI chr18:3,507,011...3,516,404
Ensembl chr18:3,507,923...3,516,404 		JBrowse link
G Egfr epidermal growth factor receptor IMP RGD PMID:10700187 RGD:734918 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Egr1 early growth response 1 ISO protein:increased expression:aortic valve cusp RGD PMID:15597579 RGD:1626496 NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037 		JBrowse link
G Eln elastin ISO RGD PMID:11175284 RGD:1580327 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G Eno3 enolase 3, beta muscle ISO mRNA:decreased expression:cardiac muscle cell RGD PMID:8594891 RGD:2301765 NCBI chr11:70,543,973...70,553,339
Ensembl chr11:70,548,028...70,553,339 		JBrowse link
G Esr2 estrogen receptor 2 (beta) ISO RGD PMID:15533858 RGD:1580704 NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033 		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 chr13:44,881,817...45,075,119
Ensembl chr13:44,882,950...45,075,119 		JBrowse link
G Lgals3 lectin, galactose binding, soluble 3 ISO RGD PMID:15520318 RGD:9685214 NCBI chr14:47,611,317...47,623,624
Ensembl chr14:47,605,208...47,623,617 		JBrowse link
G Mir210 microRNA 210 severity ISO miRNA:increased expression:blood serum (human) RGD PMID:24626394 RGD:155269043 NCBI chr 7:140,801,297...140,801,406
Ensembl chr 7:140,801,297...140,801,406 		JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO RGD PMID:15780799 RGD:1582522 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO RGD PMID:15780799 RGD:1582522 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
G Nfatc1 nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1 severity ISO RGD PMID:23578508 RGD:267010069 NCBI chr18:80,649,418...80,756,286
Ensembl chr18:80,649,420...80,756,286 		JBrowse link
G Nppc natriuretic peptide type C ISO mRNA:decreased expression:aortic valve RGD PMID:17709640 RGD:1642267 NCBI chr 1:86,594,015...86,598,295
Ensembl chr 1:86,594,013...86,598,293 		JBrowse link
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) ISO mRNA:increased expression:heart left ventricle (human) RGD PMID:22128088 RGD:9590202 NCBI chr  X:100,683,617...100,727,957
Ensembl chr  X:100,683,666...100,727,957 		JBrowse link
G Ppp3cb protein phosphatase 3, catalytic subunit, beta isoform ISO RGD PMID:15533858 RGD:1580704 NCBI chr14:20,549,432...20,596,641
Ensembl chr14:20,549,432...20,596,641 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 IMP with Egfr mutation RGD PMID:10700187 RGD:734918 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Sp7 Sp7 transcription factor 7 severity ISO RGD PMID:23578508 RGD:267010069 NCBI chr15:102,265,038...102,275,498
Ensembl chr15:102,265,041...102,275,617 		JBrowse link
G Tnf tumor necrosis factor IAGP OMIM:109730 | OMIM:614823 MouseDO NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf11b tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) ISO protein:increased expression:serum RGD PMID:20211333 RGD:7205491 NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO RGD PMID:11359741 RGD:1580365 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
Apical Hypertrophic Cardiomyopathy and Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy ClinVar PMID:17954552 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607 		JBrowse link
G mt-Atp8 ATP synthase 8, mitochondrial ISO ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy ClinVar PMID:17954552 NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969 		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
IAGP		 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:606346		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More... NCBI chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011 		JBrowse link
Calcification of Aortic Valve term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 thymoma viral proto-oncogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318 		JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:24374105 RGD:11352276 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ameliorates IMP RGD PMID:22699504 RGD:155641244 NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443 		JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) severity ISO RGD PMID:15120829 RGD:12910476 NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402 		JBrowse link
G Meis2 Meis homeobox 2 ISO mRNA,protein:decreased expression:aortic valve: RGD PMID:30594396 RGD:155598679 NCBI chr 2:115,691,745...115,897,925
Ensembl chr 2:115,693,545...115,896,320 		JBrowse link
G Notch1 notch 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16025100 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression IMP
IEP		 protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells RGD PMID:25722432 PMID:25722432 RGD:13207434, RGD:13207434 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Pth parathyroid hormone disease_progression ISO protein:increased expression:serum (rat) RGD PMID:22634235 RGD:7242900 NCBI chr 7:112,984,783...112,987,879
Ensembl chr 7:112,984,787...112,987,777 		JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO protein:increased expression:aortic valve (human) RGD PMID:35958694 RGD:401976381 NCBI chr 2:167,772,670...167,821,305
Ensembl chr 2:167,773,977...167,821,305 		JBrowse link
G Slc20a1 solute carrier family 20, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr 2:129,038,662...129,053,535
Ensembl chr 2:129,040,684...129,053,536 		JBrowse link
G Trp53 transformation related protein 53 ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		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-like 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 chr11:49,500,506...49,543,566
Ensembl chr11:49,500,090...49,543,566 		JBrowse link
COX deficiency, infantile mitochondrial myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr15:89,239,920...89,257,030
Ensembl chr15:89,239,922...89,257,029 		JBrowse link
G Sco2 SCO2 cytochrome c oxidase assembly protein 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 chr15:89,255,833...89,258,094
Ensembl chr15:89,255,840...89,258,049 		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 chr15:89,255,834...89,261,282
Ensembl chr15:89,256,134...89,261,242 		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 chr19:10,040,129...10,078,867
Ensembl chr19:10,040,129...10,079,110 		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, sub-family C member 9 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 6:142,533,592...142,648,472
Ensembl chr 6:142,533,588...142,648,041 		JBrowse link
G Acadvl acyl-Coenzyme A dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr11:69,901,009...69,906,254
Ensembl chr11:69,901,009...69,906,237 		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 chr 2:113,877,763...113,883,356
Ensembl chr 2:113,877,763...113,884,029 		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 chr13:12,284,312...12,355,613
Ensembl chr13:12,284,312...12,355,641 		JBrowse link
G Actn2lp-pending actinin alpha 2 associated LIM protein ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr 8:46,338,524...46,372,672
Ensembl chr 8:46,338,498...46,372,585 		JBrowse link
G AI597479 expressed sequence AI597479 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr 1:43,137,870...43,155,106
Ensembl chr 1:43,137,870...43,155,107 		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 chr19:36,089,365...36,097,244
Ensembl chr19:36,089,361...36,097,499 		JBrowse link
G Bag3 BCL2-associated athanogene 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31395899 PMID:33874732 NCBI chr 7:128,125,307...128,148,705
Ensembl chr 7:128,125,340...128,148,705 		JBrowse link
G Calm3 calmodulin 3 susceptibility ISO DNA:polymorphism:promoter:¿¿¿34T>A(human) RGD PMID:19429631 RGD:13792494 NCBI chr 7:16,649,304...16,657,957
Ensembl chr 7:16,649,304...16,658,039 		JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr 8:73,178,020...73,197,638
Ensembl chr 8:73,178,020...73,197,714 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:14672715 PMID:15580566 NCBI chr 6:112,436,466...112,449,833
Ensembl chr 6:112,436,466...112,449,833 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602 		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 chr 9:50,657,251...50,667,936
Ensembl chr 9:50,662,625...50,667,936 		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 chr 7:48,480,146...48,497,799
Ensembl chr 7:48,480,146...48,497,781 		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 chr 7:127,311,872...127,317,360
Ensembl chr 7:127,311,908...127,317,364 		JBrowse link
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr10:63,265,877...64,841,174
Ensembl chr10:63,265,877...64,839,446 		JBrowse link
G D9Ertd660e DNA segment, Chr 9, ERATO Doi 660, expressed ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More... NCBI chr 9:114,728,407...114,763,055
Ensembl chr 9:114,728,409...114,763,055 		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 chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr11:69,908,029...69,938,107
Ensembl chr11:69,907,768...69,938,348 		JBrowse link
G Dmd dystrophin, muscular dystrophy ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28569743 PMID:31333075 More... NCBI chr  X:81,858,244...84,248,656
Ensembl chr  X:81,992,476...84,249,747 		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 chr 7:4,525,932...4,535,487
Ensembl chr 7:4,525,932...4,535,452 		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 chr18:20,163,690...20,192,611
Ensembl chr18:20,163,690...20,192,611 		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 chr18:20,691,247...20,737,583
Ensembl chr18:20,691,131...20,737,578 		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 chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553 		JBrowse link
G Dtna dystrobrevin alpha ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr18:23,443,063...23,792,776
Ensembl chr18:23,548,192...23,792,772 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr  X:73,298,297...73,305,188
Ensembl chr  X:73,298,293...73,305,154 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr10:22,978,861...23,226,785
Ensembl chr10:22,978,862...23,226,684 		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 chr  X:55,776,569...55,838,704
Ensembl chr  X:55,777,147...55,838,706 		JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr 1:43,162,233...43,237,501
Ensembl chr 1:43,162,234...43,236,144 		JBrowse link
G Flnc filamin, gamma 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 chr 6:29,433,150...29,461,888
Ensembl chr 6:29,433,255...29,461,882 		JBrowse link
G Gjd2os gap junction protein, delta 2 opposite strand ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 More... NCBI chr 2:113,844,046...113,862,773
Ensembl chr 2:113,844,083...113,862,773
Ensembl chr 2:113,844,083...113,862,773 		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 chr  X:133,488,912...133,501,707
Ensembl chr  X:133,488,898...133,501,874 		JBrowse link
G Ilk integrin linked kinase 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 chr 7:105,385,797...105,392,132
Ensembl chr 7:105,385,799...105,392,132 		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 chr 2:163,178,162...163,239,969
Ensembl chr 2:163,178,162...163,239,913 		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 chr11:100,259,682...100,288,639
Ensembl chr11:100,259,784...100,288,589 		JBrowse link
G Kcne2 potassium voltage-gated channel, Isk-related subfamily, gene 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:15368194 PMID:16487223 PMID:17310097 PMID:22581653 PMID:24681347 More... NCBI chr16:92,089,277...92,095,021
Ensembl chr16:92,089,277...92,095,017 		JBrowse link
G Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), 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 chr 5:24,524,583...24,556,671
Ensembl chr 5:24,524,587...24,556,602 		JBrowse link
G Lama4 laminin, 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 chr10:38,841,511...38,986,184
Ensembl chr10:38,841,511...38,986,184 		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 chr  X:37,488,524...37,545,337
Ensembl chr  X:37,490,234...37,545,331 		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 chr14:34,248,656...34,312,276
Ensembl chr14:34,248,560...34,310,639 		JBrowse link
G Lmna lamin A 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 chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar NCBI chr18:10,725,523...10,822,969
Ensembl chr18:10,725,548...10,818,704 		JBrowse link
G mt-Tg tRNA glycine, mitochondrial ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:7459150 PMID:8079988 NCBI chr MT:9,391...9,458
Ensembl chr MT:9,391...9,458 		JBrowse link
G mt-Th tRNA histidine, mitochondrial ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:11038324 PMID:12560876 PMID:31965079 NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612 		JBrowse link
G mt-Ti tRNA isoleucine, mitochondrial ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:8889580 PMID:9461455 PMID:11406419 PMID:12655007 PMID:12767666 More... NCBI chr MT:3,706...3,774
Ensembl chr MT:3,706...3,774 		JBrowse link
G Mybpc3 myosin binding protein C, cardiac ISO DNA:nonsense mutations: :multiple
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation, splice-site mutation, deletion:exon, intron:multiple
DNA:missense mutations: :p.V771M, p.V342D, p.A627V (human)
DNA:missense mutations, nonsense mutations: :multiple		 ClinVar
CTD
RGD		 PMID:203962 PMID:203979 PMID:208206 PMID:208208 PMID:739990 More... RGD:1580239, RGD:1580237, RGD:1580234, RGD:1580238 NCBI chr 2:90,948,459...90,966,862
Ensembl chr 2:90,948,489...90,966,861 		JBrowse link
G Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha ISO
IMP		 CTD Direct Evidence: marker/mechanism
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		 CTD
ClinVar
RGD		 PMID:11815426 PMID:15998695 PMID:20215591 PMID:20458009 PMID:20656787 More... RGD:11065341 NCBI chr14:55,179,378...55,205,553
Ensembl chr14:55,179,378...55,204,384 		JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO CTD Direct Evidence: marker/mechanism
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		 CTD
ClinVar		 PMID:199274 PMID:546198 PMID:564455 PMID:1423936 PMID:1430197 More... NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083 		JBrowse link
G Myl2 myosin, light polypeptide 2, regulatory, cardiac, slow ISO DNA:missense mutations:exon:p.F18L, p.R58Q (human)
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, splice-site mutation:exon, intron:multiple		 ClinVar
CTD
RGD		 PMID:08673105 PMID:9241277 PMID:09535554 PMID:11102452 PMID:11748309 More... RGD:1580240, RGD:1580241 NCBI chr 5:122,230,787...122,251,536
Ensembl chr 5:122,239,014...122,251,535 		JBrowse link
G Myl3 myosin, light polypeptide 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:8673105 PMID:11174330 PMID:12021217 PMID:16754800 PMID:18409188 More... NCBI chr 9:110,592,746...110,598,870
Ensembl chr 9:110,570,929...110,598,866 		JBrowse link
G Myl9 myosin, light polypeptide 9, regulatory ISO RGD PMID:16076902 RGD:1582589 NCBI chr 2:156,617,373...156,623,578
Ensembl chr 2:156,617,340...156,623,578 		JBrowse link
G Mylk2 myosin, light polypeptide kinase 2, skeletal muscle ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 2:152,753,265...152,764,985
Ensembl chr 2:152,753,272...152,764,988 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:71,326,455...71,433,851
Ensembl chr17:71,309,628...71,433,851 		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 chr 3:122,799,855...122,828,649
Ensembl chr 3:122,799,855...122,828,664 		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 chr10:62,951,574...63,039,731
Ensembl chr10:62,951,574...63,039,731 		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 chr 2:17,347,484...17,740,634
Ensembl chr 2:17,348,720...17,736,275 		JBrowse link
G Nexn nexilin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:16199547 PMID:20970104 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 3:151,942,619...151,972,000
Ensembl chr 3:151,942,619...151,971,987 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:14672715 PMID:15580566 NCBI chr 6:112,450,646...112,467,800
Ensembl chr 6:112,450,644...112,466,904 		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 chr16:16,031,209...16,090,576
Ensembl chr16:16,031,182...16,090,576 		JBrowse link
G Prdm16 PR domain containing 16 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 4:154,400,579...154,721,851
Ensembl chr 4:154,400,582...154,721,330 		JBrowse link
G Prkag2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 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 chr 5:25,067,733...25,311,576
Ensembl chr 5:25,067,742...25,305,640 		JBrowse link
G Raf1 v-raf-leukemia viral oncogene 1 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 chr 6:115,595,530...115,653,596
Ensembl chr 6:115,595,028...115,653,596 		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 chr19:53,649,422...53,855,514
Ensembl chr19:53,665,737...53,855,511 		JBrowse link
G Ryr2 ryanodine receptor 2, cardiac 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 chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831 		JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha 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 chr 9:119,312,470...119,408,096
Ensembl chr 9:119,312,474...119,408,082 		JBrowse link
G Shoc2 Shoc2, leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr19:53,932,018...54,021,711
Ensembl chr19:53,932,737...54,021,564 		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 chr17:80,701,181...80,787,882
Ensembl chr17:80,701,180...80,787,882 		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 chr 7:105,392,101...105,393,550
Ensembl chr 7:105,388,600...105,393,568 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr  X:73,325,498...73,340,182
Ensembl chr  X:73,325,518...73,333,757 		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 chr11:98,274,637...98,275,779
Ensembl chr11:98,274,637...98,275,779 		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 chr 6:91,450,689...91,465,445
Ensembl chr 6:91,450,685...91,465,445 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr10:90,983,433...91,017,614
Ensembl chr10:90,983,433...91,017,177 		JBrowse link
G Tnni3 troponin I, cardiac 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy		 CTD
ClinVar		 PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10806205 More... NCBI chr 7:4,521,304...4,526,228
Ensembl chr 7:4,521,304...4,527,228 		JBrowse link
G Tnnt1 troponin T1, skeletal, slow ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:4,507,568...4,518,974
Ensembl chr 7:4,507,569...4,519,381 		JBrowse link
G Tnnt2 troponin T2, cardiac ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:209262 PMID:541918 PMID:2946667 PMID:7898523 PMID:8205619 More... RGD:1559062 NCBI chr 1:135,763,933...135,780,006
Ensembl chr 1:135,764,092...135,779,998 		JBrowse link
G Tpm1 tropomyosin 1, alpha ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... RGD:1580447 NCBI chr 9:66,929,872...66,956,954
Ensembl chr 9:66,929,872...66,956,688 		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 chr 4:134,042,431...134,056,940
Ensembl chr 4:134,042,431...134,056,940 		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 chr 2:76,534,324...76,812,901
Ensembl chr 2:76,534,324...76,812,891 		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 chr18:20,797,266...20,807,383
Ensembl chr18:20,798,337...20,807,378 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr16:18,245,167...18,297,823
Ensembl chr16:18,245,134...18,297,823 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:20474083 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr14:20,979,436...21,083,744
Ensembl chr14:20,979,466...21,083,744 		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 chr 8:73,178,020...73,197,638
Ensembl chr 8:73,178,020...73,197,714 		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 chr 5:72,457,291...72,661,884
Ensembl chr 5:72,457,368...72,661,816 		JBrowse link
Hypertelorism and Tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		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, sub-family C member 9 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17245405 PMID:25741868 PMID:28492532 NCBI chr 6:142,533,592...142,648,472
Ensembl chr 6:142,533,588...142,648,041 		JBrowse link
G Acacb acetyl-Coenzyme A carboxylase beta IMP RGD PMID:31709908 RGD:329901803 NCBI chr 5:114,284,748...114,388,822
Ensembl chr 5:114,284,596...114,388,822 		JBrowse link
G Ace angiotensin I converting enzyme no_association ISO DNA:insertion/deletion:intron RGD PMID:9270088 RGD:1566491 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Ace2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:myocardium (human) RGD PMID:32448590 RGD:40818260 NCBI chr  X:162,922,338...162,971,414
Ensembl chr  X:162,922,328...162,971,416 		JBrowse link
G Acp2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 2:91,033,157...91,044,443
Ensembl chr 2:91,033,230...91,044,443 		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 chr 2:113,877,763...113,883,356
Ensembl chr 2:113,877,763...113,884,029 		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 chr13:12,284,312...12,355,613
Ensembl chr13:12,284,312...12,355,641 		JBrowse link
G Actn2lp-pending actinin alpha 2 associated LIM protein ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17254821 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:46,338,524...46,372,672
Ensembl chr 8:46,338,498...46,372,585 		JBrowse link
G Adgrl4 adhesion G protein-coupled receptor L4 ISO protein:decreased expression:heart: RGD PMID:22606234 RGD:13838662 NCBI chr 3:151,143,519...151,250,718
Ensembl chr 3:151,143,524...151,250,723 		JBrowse link
G Adm adrenomedullin ISO associated with Diabetes Mellitus, Experimental;protein:decreased expression:cardiomyocyte RGD PMID:17355819 RGD:1625294 NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027 		JBrowse link
G Agt angiotensinogen no_association
susceptibility		 ISO DNA:polymorphisms: :p.T174M, p.M235T (human)
DNA:polymorphism:cds:p.M235T(human)		 RGD PMID:9270088 PMID:9023164 RGD:1566491, RGD:13432163 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		JBrowse link
G Ahr aryl-hydrocarbon receptor ISO RGD PMID:19889059 RGD:401794453 NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037 		JBrowse link
G Akap6 A kinase anchor protein 6 IMP RGD PMID:24812305 RGD:11251930 NCBI chr12:52,745,371...53,202,351
Ensembl chr12:52,746,166...53,202,382 		JBrowse link
G Akap9 A kinase (PRKA) anchor protein (yotiao) 9 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 5:3,977,410...4,130,204
Ensembl chr 5:3,978,054...4,131,310 		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 chr 7:80,707,321...80,755,360
Ensembl chr 7:80,707,348...80,755,360 		JBrowse link
G Ank2 ankyrin 2, brain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12571597 PMID:15178757 PMID:17242276 PMID:22581653 PMID:23174487 More... NCBI chr 3:126,715,256...127,293,996
Ensembl chr 3:126,715,261...127,292,999 		JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO DNA:missense mutations:exon:p.P52A, p.T123M, p.I280V (human)
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy		 ClinVar
RGD		 PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... RGD:5133276 NCBI chr19:36,089,365...36,097,244
Ensembl chr19:36,089,361...36,097,499 		JBrowse link
G Aph1b aph1 homolog B, gamma secretase subunit ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:66,682,484...66,704,671
Ensembl chr 9:66,682,484...66,702,772 		JBrowse link
G Arfgap2 ADP-ribosylation factor GTPase activating protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 2:91,095,460...91,107,716
Ensembl chr 2:91,095,319...91,107,276 		JBrowse link
G Bag3 BCL2-associated athanogene 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:128,125,307...128,148,705
Ensembl chr 7:128,125,340...128,148,705 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 ISO protein:decreased expression:heart
protein:decreased expression:cardiomyocyte		 RGD PMID:25209900 PMID:25820375 RGD:11558015, RGD:13792650 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Becn1 beclin 1, autophagy related ISO protein:increased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112 		JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G C2cd4a C2 calcium-dependent domain containing 4A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:67,737,814...67,739,612
Ensembl chr 9:67,737,771...67,739,612 		JBrowse link
G C2cd4b C2 calcium-dependent domain containing 4B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:67,623,506...67,668,215
Ensembl chr 9:67,666,719...67,668,212 		JBrowse link
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit 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 chr 6:118,564,201...119,174,345
Ensembl chr 6:118,564,201...119,173,851 		JBrowse link
G Cacnb2 calcium channel, voltage-dependent, beta 2 subunit severity ISO DNA:missense mutation:cds:c.1598C>T (p.S533L)(human)
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy		 ClinVar
RGD		 PMID:23861362 PMID:25741868 PMID:28492532 PMID:28614222 RGD:13513985 NCBI chr 2:14,608,672...14,993,622
Ensembl chr 2:14,607,899...14,992,719 		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 chr 8:73,178,020...73,197,638
Ensembl chr 8:73,178,020...73,197,714 		JBrowse link
G Capn2 calpain 2 ISO protein:increased expression, activity:nucleus RGD PMID:25820375 RGD:13792650 NCBI chr 1:182,294,818...182,345,175
Ensembl chr 1:182,294,825...182,345,173 		JBrowse link
G Car12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:66,619,026...66,674,127
Ensembl chr 9:66,620,968...66,674,127 		JBrowse link
G Casp3 caspase 3 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:18192848 RGD:2293330 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724 		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 chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503 		JBrowse link
G Cav1 caveolin 1, caveolae protein IAGP MouseDO NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451 		JBrowse link
G Cav3 caveolin 3 ISO
IAGP		 ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
MouseDO		 NCBI chr 6:112,436,466...112,449,833
Ensembl chr 6:112,436,466...112,449,833 		JBrowse link
G Cd36 CD36 molecule ISO mRNA:increased expression:heart RGD PMID:19189074 RGD:2307222 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799 		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 chr 9:108,703,244...108,730,168
Ensembl chr 9:108,703,519...108,730,168 		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 chr10:53,149,537...53,256,765
Ensembl chr10:53,149,539...53,256,043 		JBrowse link
G Cma1 chymase 1, mast cell susceptibility ISO DNA:snp:5' utr:g.-1903G>A rs1800875 (human) RGD PMID:8759823 RGD:5128572 NCBI chr14:56,178,908...56,182,132
Ensembl chr14:56,178,908...56,182,132 		JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:21667357 PMID:25741868 PMID:27519266 PMID:28492532 PMID:30715774 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Cox15 cytochrome c oxidase assembly protein 15 ISO RGD PMID:12474143 RGD:1598468 NCBI chr19:43,721,693...43,741,439
Ensembl chr19:43,721,693...43,741,439 		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 chr 9:50,657,251...50,667,936
Ensembl chr 9:50,662,625...50,667,936 		JBrowse link
G Cs citrate synthase ISO RGD PMID:10354207 RGD:243048483 NCBI chr10:128,173,596...128,198,351
Ensembl chr10:128,173,603...128,198,348 		JBrowse link
G Csrp3 cysteine and glycine-rich protein 3 ISO
IAGP		 ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
MouseDO
RGD		 PMID:8994428 PMID:9039266 PMID:12507422 PMID:12642359 PMID:14567970 More... RGD:1598499 NCBI chr 7:48,480,146...48,497,799
Ensembl chr 7:48,480,146...48,497,781 		JBrowse link
G Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 2:91,103,585...91,275,059
Ensembl chr 2:91,105,413...91,275,049 		JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
mRNA:increased expression:heatt (rat)		 ClinVar
RGD		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:24247421 RGD:401793741 NCBI chr 7:127,311,872...127,317,360
Ensembl chr 7:127,311,908...127,317,364 		JBrowse link
G Ctnnb1 catenin beta 1 treatment IEP protein:increased phosphorylation:myocyte: RGD PMID:14993121 RGD:1598718 NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G Ctsl cathepsin L ISO RGD PMID:19096818 RGD:2315555 NCBI chr13:64,509,704...64,518,586
Ensembl chr13:64,507,151...64,518,704 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO mRNA:increased expression:heatt (rat)
mRNA, protein:increased expression:heart (rat)		 RGD PMID:24247421 PMID:19889059 RGD:401793741, RGD:401794453 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO mRNA, protein:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO mRNA, protein:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900 		JBrowse link
G D9Ertd660e DNA segment, Chr 9, ERATO Doi 660, expressed ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More... NCBI chr 9:114,728,407...114,763,055
Ensembl chr 9:114,728,409...114,763,055 		JBrowse link
G Ddb2 damage specific DNA binding protein 2 (48 kDa) ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 2:91,041,924...91,067,465
Ensembl chr 2:91,041,917...91,067,327 		JBrowse link
G Des desmin IMP
ISO		 ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:32528171 PMID:10591032 RGD:13525010 NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223 		JBrowse link
G Dmd dystrophin, muscular dystrophy ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19937601 PMID:19959795 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr  X:81,858,244...84,248,656
Ensembl chr  X:81,992,476...84,249,747 		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 chr 7:4,525,932...4,535,487
Ensembl chr 7:4,525,932...4,535,452 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO protein:increased expression:cardiac muscle tissue of interventricular septum (human) RGD PMID:32051532 RGD:126925233 NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184 		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 chr18:20,163,690...20,192,611
Ensembl chr18:20,163,690...20,192,611 		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 chr18:20,691,247...20,737,583
Ensembl chr18:20,691,131...20,737,578 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
RGD		 PMID:18632414 PMID:19863551 PMID:21062920 PMID:21397041 PMID:21606390 More... RGD:1580892 NCBI chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553 		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 chr18:23,443,063...23,792,776
Ensembl chr18:23,548,192...23,792,772 		JBrowse link
G Edn1 endothelin 1 ISO associated with Diabetes Mellitus, Experimental; protein:increased secretion:serum (rat) RGD PMID:19000375 RGD:2302065 NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr  X:73,298,297...73,305,188
Ensembl chr  X:73,298,293...73,305,154 		JBrowse link
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr17:71,559,167...71,618,551
Ensembl chr17:71,559,167...71,618,973 		JBrowse link
G Ephx2 epoxide hydrolase 2, cytoplasmic ISO mRNA, protein:increased expression:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chr14:66,321,821...66,361,971
Ensembl chr14:66,321,823...66,361,949 		JBrowse link
G Etfdh electron transferring flavoprotein, dehydrogenase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:79,511,095...79,536,074
Ensembl chr 3:79,511,095...79,536,807 		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 chr10:22,978,861...23,226,785
Ensembl chr10:22,978,862...23,226,684 		JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr11:120,696,784...120,715,992
Ensembl chr11:120,696,672...120,715,373 		JBrowse link
G Fbxl22 F-box and leucine-rich repeat protein 22 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:66,415,738...66,425,752
Ensembl chr 9:66,415,657...66,421,891 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
RGD		 PMID:11583900 RGD:1580798 NCBI chr  X:55,776,569...55,838,704
Ensembl chr  X:55,777,147...55,838,706 		JBrowse link
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr18:24,841,445...25,266,564
Ensembl chr18:24,841,680...25,266,558 		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 chr 7:16,543,192...16,550,657
Ensembl chr 7:16,543,171...16,550,657 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18414213 PMID:22037554 PMID:25741868 PMID:28492532 NCBI chr 4:53,713,745...53,765,785
Ensembl chr 4:53,713,998...53,777,890 		JBrowse link
G Flnc filamin, gamma ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:26555887 PMID:28492532 PMID:31513939 More... NCBI chr 6:29,433,150...29,461,888
Ensembl chr 6:29,433,255...29,461,882 		JBrowse link
G Fxn frataxin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15936968 PMID:25741868 NCBI chr19:24,236,909...24,257,954
Ensembl chr19:24,238,817...24,257,969 		JBrowse link
G Gaa glucosidase, alpha, acid ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy		 CTD
ClinVar		 PMID:11328962 PMID:22644586 PMID:25741868 PMID:28492532 NCBI chr11:119,158,789...119,176,284
Ensembl chr11:119,158,713...119,176,280 		JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 3:96,939,718...96,960,950
Ensembl chr 3:96,812,009...96,984,732 		JBrowse link
G Gjd2os gap junction protein, delta 2 opposite strand ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:676951 PMID:2255271 PMID:9536098 PMID:9563954 PMID:10494087 More... NCBI chr 2:113,844,046...113,862,773
Ensembl chr 2:113,844,083...113,862,773
Ensembl chr 2:113,844,083...113,862,773 		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 chr  X:133,488,912...133,501,707
Ensembl chr  X:133,488,898...133,501,874 		JBrowse link
G Gpr149 G protein-coupled receptor 149 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 3:62,436,851...62,512,861
Ensembl chr 3:62,436,498...62,512,561 		JBrowse link
G Gtpbp3 GTP binding protein 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25434004 PMID:25741868 PMID:30426380 PMID:34276756 PMID:35413567 NCBI chr 8:71,938,788...71,952,268
Ensembl chr 8:71,940,747...71,952,227 		JBrowse link
G Hcn4 hyperpolarization-activated, cyclic nucleotide-gated K+ 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25145518 PMID:25145519 PMID:25642760 PMID:25741868 More... NCBI chr 9:58,730,232...58,770,458
Ensembl chr 9:58,730,695...58,770,458 		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 chr 9:66,257,694...66,416,057
Ensembl chr 9:66,257,732...66,416,057 		JBrowse link
G Hey2 hairy/enhancer-of-split related with YRPW motif 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20001863 NCBI chr10:30,708,355...30,718,779
Ensembl chr10:30,708,355...30,718,797 		JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased activity:heart (rat) RGD PMID:19889059 RGD:401794453 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Hspb1 heat shock protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417 		JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402 		JBrowse link
G Htr2b 5-hydroxytryptamine (serotonin) receptor 2B IAGP MouseDO NCBI chr 1:86,025,268...86,043,960
Ensembl chr 1:86,026,748...86,039,692 		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 chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140 		JBrowse link
G Igf1 insulin-like growth factor 1 severity ISO RGD PMID:12135130 RGD:1598422 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Igf1r insulin-like growth factor I receptor ISO associated with Diabetes Mellitus;protein:decreased expression:placenta RGD PMID:16750336 RGD:2311505 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		JBrowse link
G Ins2 insulin II ISO CTD Direct Evidence: marker/mechanism CTD PMID:8660453 NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118 		JBrowse link
G Irf9 interferon regulatory factor 9 exacerbates
ameliorates		 IMP
IDA		 RGD PMID:24144649 PMID:24144649 RGD:125093743, RGD:125093743 NCBI chr14:55,841,442...55,847,487
Ensembl chr14:55,841,028...55,847,487 		JBrowse link
G Jph2 junctophilin 2 disease_progression IEP
ISO		 ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
protein:decreased expression:heart		 ClinVar
RGD		 PMID:9536098 PMID:17476457 PMID:17509612 PMID:17576681 PMID:22584458 More... RGD:1580652, RGD:6480270 NCBI chr 2:163,178,162...163,239,969
Ensembl chr 2:163,178,162...163,239,913 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:100,259,682...100,288,639
Ensembl chr11:100,259,784...100,288,589 		JBrowse link
G Kat8 K(lysine) acetyltransferase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27768893 NCBI chr 7:127,511,689...127,525,010
Ensembl chr 7:127,511,688...127,525,009 		JBrowse link
G Kcne1 potassium voltage-gated channel, Isk-related subfamily, member 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24217263 PMID:28492532 NCBI chr16:92,142,889...92,156,356
Ensembl chr16:92,142,870...92,156,356 		JBrowse link
G Kcne2 potassium voltage-gated channel, Isk-related subfamily, gene 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:10220144 PMID:15368194 PMID:15840476 PMID:18006462 PMID:20817017 More... NCBI chr16:92,089,277...92,095,021
Ensembl chr16:92,089,277...92,095,017 		JBrowse link
G Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), member 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19716085 PMID:22581653 PMID:24033266 PMID:25637381 PMID:25741868 More... NCBI chr 5:24,524,583...24,556,671
Ensembl chr 5:24,524,587...24,556,602 		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 chr11:110,956,990...110,967,651
Ensembl chr11:110,956,990...110,967,647 		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 chr 9:32,226,002...32,255,640
Ensembl chr 9:32,226,003...32,255,646 		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 chr 6:142,510,563...142,517,340
Ensembl chr 6:142,510,563...142,517,340 		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 chr 7:142,660,614...142,980,787
Ensembl chr 7:142,660,099...142,980,779 		JBrowse link
G Klhl24 kelch-like 24 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr16:19,916,286...19,947,976
Ensembl chr16:19,916,292...19,947,971 		JBrowse link
G Klhl41 kelch-like 41 ISO RGD PMID:11583900 RGD:1580798 NCBI chr 2:69,500,464...69,514,583
Ensembl chr 2:69,500,464...69,514,574 		JBrowse link
G Lactb lactamase, beta ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:66,862,668...66,882,706
Ensembl chr 9:66,862,670...66,882,766 		JBrowse link
G Lama2 laminin, alpha 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:26,857,281...27,493,021
Ensembl chr10:26,856,032...27,495,754 		JBrowse link
G Lama4 laminin, alpha 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:38,841,511...38,986,184
Ensembl chr10:38,841,511...38,986,184 		JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO in hemizygote mutant male (LAMP2y/-)
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy		 ClinVar
RGD		 PMID:9536098 PMID:15673802 PMID:16199547 PMID:16217705 PMID:17576681 More... RGD:13703117 NCBI chr  X:37,488,524...37,545,337
Ensembl chr  X:37,490,234...37,545,331 		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 chr14:34,248,656...34,312,276
Ensembl chr14:34,248,560...34,310,639 		JBrowse link
G Lmna lamin A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:2338570 PMID:2753225 PMID:23183350 PMID:23328570 PMID:24033266 More... NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr17:71,490,527...71,556,813
Ensembl chr17:71,489,555...71,556,812 		JBrowse link
G Lrp4 low density lipoprotein receptor-related protein 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 2:91,287,794...91,344,246
Ensembl chr 2:91,287,856...91,344,124 		JBrowse link
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO DNA:missense mutation:c.1394C>T p.A465V, c.1330G>A p.D444N (human) RGD PMID:32004086 RGD:151708727 NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197 		JBrowse link
G Madd MAP-kinase activating death domain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 2:90,967,705...91,013,404
Ensembl chr 2:90,967,705...91,014,182 		JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha ISO protein:increased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chr 2:155,118,284...155,119,993
Ensembl chr 2:155,118,217...155,119,993 		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 chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809 		JBrowse link
G Map3k7 mitogen-activated protein kinase kinase kinase 7 treatment IMP
ISO		 protein:increased phosphorylation:heart (human) RGD PMID:27249171 PMID:27249171 RGD:155646134, RGD:155646134 NCBI chr 4:31,963,659...32,023,470
Ensembl chr 4:31,964,097...32,023,467 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr16:23,261,778...23,340,127
Ensembl chr16:23,268,167...23,339,565 		JBrowse link
G Mir208a microRNA 208a ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr14:55,186,517...55,186,599
Ensembl chr14:55,186,517...55,186,599 		JBrowse link
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:27247418 PMID:28492532 PMID:29121657 PMID:31638223 NCBI chr14:55,213,157...55,213,233
Ensembl chr14:55,213,157...55,213,233 		JBrowse link
G Mir451a microRNA 451a ISO RNA:decreased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chr11:77,963,996...77,964,067
Ensembl chr11:77,963,996...77,964,067 		JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO RGD PMID:12952838 RGD:1582538 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO RGD PMID:12952838 RGD:1582538 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:plasma RGD PMID:18585501 RGD:5130889 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma RGD PMID:18585501 RGD:5130889 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750 		JBrowse link
G Mtpn myotrophin IAGP MouseDO NCBI chr 6:35,485,759...35,516,823
Ensembl chr 6:35,485,841...35,516,823 		JBrowse link
G Mybpc3 myosin binding protein C, cardiac ISO DNA:polymorphism:exon:18443A>G (human)
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
DNA:mutations: :multiple		 ClinVar
CTD
RGD		 PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:208208 More... RGD:1580233, RGD:1580235 NCBI chr 2:90,948,459...90,966,862
Ensembl chr 2:90,948,489...90,966,861 		JBrowse link
G Mybphl myosin binding protein H-like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 3:108,272,227...108,287,373
Ensembl chr 3:108,272,227...108,287,373 		JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000973 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223 		JBrowse link
G Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy		 CTD
ClinVar		 PMID:15998695 PMID:20656787 PMID:22011241 PMID:23861362 PMID:24033266 More... NCBI chr14:55,179,378...55,205,553
Ensembl chr14:55,179,378...55,204,384 		JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta treatment
severity		 ISO
IEP		 DNA:deletion, missense mutations: :multiple
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
protein:increased expression:heart (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.R719W (human)
DNA:missense mutations: :multiple		 ClinVar
CTD
RGD		 PMID:1975 PMID:177788 PMID:199274 PMID:204029 PMID:319790 More... RGD:1580929, RGD:155646134, RGD:11065270, RGD:1580926 NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083 		JBrowse link
G Myh7b myosin, heavy chain 7B, cardiac muscle, beta ISO DNA:polymorphism:CDS:multiple (human)
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy		 ClinVar
RGD		 PMID:25741868 PMID:32207065 PMID:32207065 RGD:126925946, RGD:126925946 NCBI chr 2:155,453,129...155,476,227
Ensembl chr 2:155,453,132...155,476,227 		JBrowse link
G Myl12a myosin, light chain 12A, regulatory, non-sarcomeric ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr17:71,300,788...71,309,528
Ensembl chr17:71,300,651...71,309,873 		JBrowse link
G Myl2 myosin, light polypeptide 2, regulatory, cardiac, slow ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy		 CTD
ClinVar		 PMID:203862 PMID:08673105 PMID:9527842 PMID:09535554 PMID:9536098 More... NCBI chr 5:122,230,787...122,251,536
Ensembl chr 5:122,239,014...122,251,535 		JBrowse link
G Myl3 myosin, light polypeptide 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:6211078 PMID:08673105 PMID:9536098 PMID:9927691 PMID:10948063 More... NCBI chr 9:110,592,746...110,598,870
Ensembl chr 9:110,570,929...110,598,866 		JBrowse link
G Myl4 myosin, light polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr11:104,427,604...104,478,041
Ensembl chr11:104,441,489...104,486,579 		JBrowse link
G Myl7 myosin, light polypeptide 7, regulatory ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr11:5,846,637...5,848,782
Ensembl chr11:5,846,637...5,848,782 		JBrowse link
G Mylc2b myosin light chain, regulatory B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr17:71,280,958...71,297,511
Ensembl chr17:71,280,128...71,297,885 		JBrowse link
G Mylk2 myosin, light polypeptide kinase 2, skeletal muscle ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31513939 NCBI chr 2:152,753,265...152,764,985
Ensembl chr 2:152,753,272...152,764,988 		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 chr17:71,326,455...71,433,851
Ensembl chr17:71,309,628...71,433,851 		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 chr 3:122,799,855...122,828,649
Ensembl chr 3:122,799,855...122,828,664 		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 chr10:62,951,574...63,039,731
Ensembl chr10:62,951,574...63,039,731 		JBrowse link
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:32722639 NCBI chr 8:70,346,813...70,355,208
Ensembl chr 8:70,346,830...70,355,208 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr 1:63,182,751...63,215,981
Ensembl chr 1:63,182,755...63,215,992 		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 chr 1:171,062,426...171,078,956
Ensembl chr 1:171,062,422...171,078,957 		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 chr 2:17,347,484...17,740,634
Ensembl chr 2:17,348,720...17,736,275 		JBrowse link
G Nexn nexilin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19881492 PMID:24033266 PMID:25163546 PMID:25741868 PMID:26659360 More... NCBI chr 3:151,942,619...151,972,000
Ensembl chr 3:151,942,619...151,971,987 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr11:93,849,751...93,859,341
Ensembl chr11:93,847,805...93,859,347 		JBrowse link
G Nmnat2 nicotinamide nucleotide adenylyltransferase 2 ISO protein:decreased expression, decreased activity:heart RGD PMID:22449973 RGD:13782043 NCBI chr 1:152,830,532...152,995,012
Ensembl chr 1:152,830,744...152,995,007 		JBrowse link
G Npm1 nucleophosmin 1 IEP protein:increased expression:cardiomyocyte: RGD PMID:21444791 RGD:11535018 NCBI chr11:33,102,498...33,114,143
Ensembl chr11:33,102,287...33,113,206 		JBrowse link
G Nppa natriuretic peptide precursor type A treatment ISO
IEP		 protein:decreased expression:cardiomyocyte
mRNA:increased expression:heart (rat)
mRNA:increased expression:heatt (rat)
protein:increased expression:heart (human)		 RGD PMID:25820375 PMID:19889059 PMID:24247421 PMID:27249171 RGD:13792650, RGD:401794453, RGD:401793741, RGD:155646134 NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536 		JBrowse link
G Nppb natriuretic peptide type B ISO mRNA:increased expression:heatt (rat)
mRNA:increased expression:heart (rat)		 RGD PMID:24247421 PMID:19889059 RGD:401793741, RGD:401794453 NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 2:91,014,406...91,033,189
Ensembl chr 2:91,014,406...91,033,179 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 6:112,450,646...112,467,800
Ensembl chr 6:112,450,644...112,466,904 		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 chr 2:91,086,215...91,095,025
Ensembl chr 2:91,086,299...91,095,024 		JBrowse link
G Pepd peptidase D IAGP MouseDO NCBI chr 7:34,611,832...34,744,131
Ensembl chr 7:34,611,804...34,744,133 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting IAGP MouseDO NCBI chr17:24,767,657...24,815,457
Ensembl chr17:24,768,808...24,815,482 		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 chr16:16,031,209...16,090,576
Ensembl chr16:16,031,182...16,090,576 		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 chr10:53,213,782...53,222,095
Ensembl chr10:53,213,763...53,222,083 		JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:1539879 PMID:7847370 PMID:11555352 PMID:12210792 PMID:12297582 More... NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110 		JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:2536513 PMID:2831920 PMID:2853496 PMID:8381257 PMID:8928979 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642 		JBrowse link
G Ppp6r1 protein phosphatase 6, regulatory subunit 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 7:4,634,494...4,661,949
Ensembl chr 7:4,634,494...4,662,018 		JBrowse link
G Prkag2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit IAGP
ISO		 ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
RGD		 PMID:762819 PMID:2526523 PMID:9536098 PMID:10355918 PMID:10368461 More... RGD:1580716 NCBI chr 5:25,067,733...25,311,576
Ensembl chr 5:25,067,742...25,305,640 		JBrowse link
G Psmc3 proteasome (prosome, macropain) 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 2:90,884,361...90,889,783
Ensembl chr 2:90,884,354...90,896,714 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 IMP
ISO
IAGP		 ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
MouseDO
RGD		 PMID:11992261 PMID:12058348 PMID:12960218 PMID:14644997 PMID:14961557 More... RGD:11072362 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Ptprh protein tyrosine phosphatase receptor type H ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 7:4,551,607...4,607,040
Ensembl chr 7:4,551,611...4,607,040 		JBrowse link
G Rab8b RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:66,750,891...66,826,987
Ensembl chr 9:66,750,946...66,826,969 		JBrowse link
G Raf1 v-raf-leukemia viral oncogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17603482 PMID:17603483 NCBI chr 6:115,595,530...115,653,596
Ensembl chr 6:115,595,028...115,653,596 		JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 2:90,864,594...90,876,074
Ensembl chr 2:90,865,965...90,876,074 		JBrowse link
G Rassf1 Ras association (RalGDS/AF-6) domain family member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19652091 NCBI chr 9:107,428,752...107,439,460
Ensembl chr 9:107,428,754...107,439,466 		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 chr19:53,649,422...53,855,514
Ensembl chr19:53,665,737...53,855,511 		JBrowse link
G Ren2 renin 2 tandem duplication of Ren1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27428043
G Retn resistin ISO DNA, protein:SNP, increased expression:promoter, serum:-420G>C (rs1862513) (human) RGD PMID:20171599 RGD:7207251 NCBI chr 8:3,705,770...3,709,818
Ensembl chr 8:3,705,770...3,710,110 		JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 9:107,928,869...107,957,183
Ensembl chr 9:107,928,733...107,960,545 		JBrowse link
G Rps27l ribosomal protein S27-like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:66,851,906...66,856,804
Ensembl chr 9:66,853,368...66,856,798 		JBrowse link
G Ryr2 ryanodine receptor 2, cardiac ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12459180 PMID:18752142 PMID:19926015 PMID:22787013 PMID:23022705 More... NCBI chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831 		JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:10807545 PMID:15689442 PMID:15851227 PMID:16155735 PMID:17227473 More... NCBI chr 9:119,312,470...119,408,096
Ensembl chr 9:119,312,474...119,408,082 		JBrowse link
G Sco2 SCO2 cytochrome c oxidase assembly protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11027508 PMID:14970747 NCBI chr15:89,255,833...89,258,094
Ensembl chr15:89,255,840...89,258,049 		JBrowse link
G Sgca sarcoglycan, alpha (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:94,853,603...94,867,153
Ensembl chr11:94,853,617...94,867,153 		JBrowse link
G Sgcb sarcoglycan, beta (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:73,790,092...73,805,080
Ensembl chr 5:73,790,092...73,805,133 		JBrowse link
G Slc25a4 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
RGD		 PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... RGD:1580619 NCBI chr 8:46,660,205...46,664,099
Ensembl chr 8:46,659,834...46,664,321 		JBrowse link
G Slc30a5 solute carrier family 30 (zinc transporter), member 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:33547425 NCBI chr13:100,939,153...100,969,988
Ensembl chr13:100,939,156...100,969,935 		JBrowse link
G Slc39a13 solute carrier family 39 (metal ion transporter), member 13 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19574547 PMID:28492532 PMID:30924982 NCBI chr 2:90,892,136...90,900,754
Ensembl chr 2:90,892,136...90,900,762 		JBrowse link
G Slc9a1 solute carrier family 9 (sodium/hydrogen exchanger), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19111554 NCBI chr 4:133,097,022...133,151,013
Ensembl chr 4:133,097,017...133,151,013 		JBrowse link
G Smchd1 SMC hinge domain containing 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr17:71,651,484...71,782,361
Ensembl chr17:71,651,484...71,782,338 		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 chr17:80,701,181...80,787,882
Ensembl chr17:80,701,180...80,787,882 		JBrowse link
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19574547 PMID:28492532 PMID:30924982 NCBI chr 2:90,912,750...90,946,104
Ensembl chr 2:90,912,735...90,946,101 		JBrowse link
G Syt5 synaptotagmin V ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 7:4,542,764...4,550,540
Ensembl chr 7:4,542,764...4,550,540 		JBrowse link
G Tbca tubulin cofactor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr13:94,925,428...94,979,431
Ensembl chr13:94,925,418...94,979,430 		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 chr11:98,274,637...98,275,779
Ensembl chr11:98,274,637...98,275,779 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 IMP RGD PMID:22134166 RGD:11073617 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		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 chr12:86,103,517...86,125,815
Ensembl chr12:86,103,519...86,125,815 		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 chr17:71,151,200...71,160,527
Ensembl chr17:71,151,200...71,160,541 		JBrowse link
G Timp2 tissue inhibitor of metalloproteinase 2 ISO RGD PMID:15056834 RGD:1580653 NCBI chr11:118,191,887...118,246,237
Ensembl chr11:118,191,887...118,246,566 		JBrowse link
G Tln2 talin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:67,124,371...67,541,357
Ensembl chr 9:67,124,369...67,466,985 		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 chr 6:91,450,689...91,465,445
Ensembl chr 6:91,450,685...91,465,445 		JBrowse link
G Tmem86b transmembrane protein 86B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 7:4,631,039...4,634,211
Ensembl chr 7:4,631,039...4,634,421 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31983221 NCBI chr10:90,983,433...91,017,614
Ensembl chr10:90,983,433...91,017,177 		JBrowse link
G Tnnc1 troponin C, cardiac/slow skeletal ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
RGD		 PMID:18572189 PMID:19439414 PMID:20459070 PMID:21056975 PMID:22489623 More... RGD:1580739 NCBI chr14:30,930,274...30,933,671
Ensembl chr14:30,930,269...30,933,686 		JBrowse link
G Tnni3 troponin I, cardiac 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
RGD		 PMID:3144325 PMID:3349559 PMID:7592712 PMID:9241277 PMID:9536098 More... RGD:1580420 NCBI chr 7:4,521,304...4,526,228
Ensembl chr 7:4,521,304...4,527,228 		JBrowse link
G Tnnt1 troponin T1, skeletal, slow ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:4,507,568...4,518,974
Ensembl chr 7:4,507,569...4,519,381 		JBrowse link
G Tnnt2 troponin T2, cardiac ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:209262 PMID:541918 PMID:2003160 PMID:2946667 PMID:7898523 More... RGD:1580440 NCBI chr 1:135,763,933...135,780,006
Ensembl chr 1:135,764,092...135,779,998 		JBrowse link
G Tpm1 tropomyosin 1, alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330