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: | aortic valve disease |
|
Accession: | DOID:62
|
browse the term
|
Definition: | Diseases involving the AORTIC VALVE functionality. Aortic valve disease often results in a backward and/or regurgitated blood flow into the LEFT VENTRICLE or a decreased blood flow from the heart. It includes congenital (e.g., bicuspid aortic valve), syndromic, and acquired (e.g., age-related, infection-associated) conditions. (MESH) |
Synonyms: | exact_synonym: | aortic heart disease; aortic valve disorder; aortic valvular heart disease; aortic valvular heart disorder |
| primary_id: | MESH:D000082862 |
| xref: | ICD9CM:424.1; NCI:C78650 |
For additional species annotation, visit the
Alliance of Genome Resources.
|
|
|
|
G |
Col1a2 |
collagen type I alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Aortic valve disease |
ClinVar |
PMID:30311386 |
|
NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
|
|
G |
Col5a1 |
collagen type V alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: AORTIC VALVE DISEASE |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
|
|
G |
Dsg1 |
desmoglein 1 |
|
ISO |
ClinVar Annotator: match by term: Bicuspid aortic valve |
ClinVar |
|
|
NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
|
|
G |
Egfr |
epidermal growth factor receptor |
|
ISS |
|
MouseDO |
|
|
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
|
|
G |
Eln |
elastin |
|
ISS |
|
MouseDO |
|
|
NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
|
|
G |
Gata5 |
GATA binding protein 5 |
|
ISO |
ClinVar Annotator: match by term: AORTIC VALVE DISEASE |
ClinVar |
|
|
NCBI chr 3:175,701,278...175,709,465
Ensembl chr 3:175,701,280...175,709,465
|
|
G |
Hey2 |
hes-related family bHLH transcription factor with YRPW motif 2 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 1:29,191,170...29,201,257
Ensembl chr 1:29,191,192...29,201,531
|
|
G |
Lsm1 |
LSM1 homolog, mRNA degradation associated |
|
ISO |
ClinVar Annotator: match by term: Aortic valve disease |
ClinVar |
PMID:25741868 PMID:31010896 |
|
NCBI chr16:71,046,475...71,057,883
Ensembl chr16:71,046,475...71,057,883
|
|
G |
Myh11 |
myosin heavy chain 11 |
|
ISO |
ClinVar Annotator: match by term: Aortic valve disease |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
|
|
G |
Nos3 |
nitric oxide synthase 3 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
|
|
G |
Notch1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: AORTIC VALVE DISEASE ClinVar Annotator: match by term: Aortic valve disease |
ClinVar |
PMID:16025100 PMID:16729972 PMID:18593716 PMID:24113472 PMID:24728327 PMID:25326637 PMID:25587027 PMID:25741868 PMID:26188975 PMID:26708639 PMID:26820064 PMID:27760138 PMID:28492532 PMID:29907982 PMID:30311386 |
|
NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
|
|
G |
Rbpj |
recombination signal binding protein for immunoglobulin kappa J region |
|
ISS |
|
MouseDO |
|
|
NCBI chr14:59,657,738...59,865,427
Ensembl chr14:59,658,935...59,735,450
|
|
G |
Robo4 |
roundabout guidance receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Aortic valve disease |
ClinVar |
PMID:30455415 |
|
NCBI chr 8:39,082,693...39,093,344
Ensembl chr 8:39,083,327...39,093,277
|
|
G |
Smad6 |
SMAD family member 6 |
|
ISO |
ClinVar Annotator: match by term: AORTIC VALVE DISEASE |
ClinVar |
PMID:28492532 PMID:30796334 |
|
NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
|
|
G |
Tbx20 |
T-box transcription factor 20 |
|
ISO |
ClinVar Annotator: match by term: AORTIC VALVE DISEASE |
ClinVar |
|
|
NCBI chr 8:25,849,394...25,904,570
Ensembl chr 8:25,850,962...25,904,570
|
|
|
G |
Col5a1 |
collagen type V alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: AORTIC VALVE DISEASE 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
|
|
G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
|
IEP |
mRNA:increased expression:aorta (rat) |
RGD |
PMID:22659116 |
RGD:12914785 |
NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
|
|
G |
Il6 |
interleukin 6 |
severity |
ISO |
|
RGD |
PMID:23969418 |
RGD:12792206 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
|
|
G |
Mgp |
matrix Gla protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19350115 |
|
NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
|
|
G |
Notch1 |
notch receptor 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 OMIM:109730 |
ClinVar OMIM |
PMID:16729972 PMID:24113472 PMID:24728327 PMID:25587027 PMID:25741868 PMID:26188975 PMID:26708639 PMID:26820064 PMID:28492532, PMID:16025100 |
RGD:1580758 |
NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
|
|
|
G |
Chrng |
cholinergic receptor nicotinic gamma subunit |
|
ISO |
ClinVar Annotator: match by term: Aortic valve stenosis |
ClinVar |
PMID:16826531 PMID:22167768 PMID:24038971 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26752647 PMID:27245440 PMID:30311386 |
|
NCBI chr 9:94,302,218...94,308,591
|
|
G |
Lmna |
lamin A/C |
|
ISO |
protein:decreased expression:aorta wall, nucleus (human) |
RGD |
PMID:24560417 |
RGD:12791292 |
NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
|
|
G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:23615040 |
RGD:13204802 |
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
|
|
G |
Nkx2-5 |
NK2 homeobox 5 |
|
ISO |
DNA:nonsense mutation:exon:p.K192X (human) DNA:missense mutations: :p.Q22K, p.R36S, p.E54K (human) |
RGD |
PMID:25438918, PMID:22179962 |
RGD:12914790, RGD:12914791 |
NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
|
|
G |
Smad6 |
SMAD family member 6 |
|
ISO |
ClinVar Annotator: match by term: Aortic valve disease 2 ClinVar Annotator: match by term: AORTIC VALVE STENOSIS ClinVar Annotator: match by OMIM:614823 |
OMIM ClinVar |
PMID:22275001 PMID:25741868 PMID:27606499 PMID:28492532 PMID:28659821 PMID:30796334 PMID:30848080 |
|
NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
|
|
G |
Tbx5 |
T-box transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Aortic valve disease 2 ClinVar Annotator: match by term: AORTIC VALVE STENOSIS |
ClinVar |
PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:10077612 PMID:10077762 PMID:11431700 PMID:11555635 PMID:12499378 PMID:12789647 PMID:14402857 PMID:15710732 PMID:16183809 PMID:16380715 PMID:16917909 PMID:17534187 PMID:18706711 PMID:19648116 PMID:20450920 PMID:20519243 PMID:21637475 PMID:21897873 PMID:24033266 PMID:24664498 PMID:25260786 PMID:25263169 PMID:25500235 PMID:25623069 PMID:25680289 PMID:25741868 PMID:25931334 PMID:26219450 PMID:26401820 PMID:26762269 PMID:26859351 PMID:28492532 PMID:30143665 |
|
NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
|
|
|
G |
Robo4 |
roundabout guidance receptor 4 |
|
ISO |
ClinVar Annotator: match by term: AORTIC VALVE DISEASE 3 |
OMIM ClinVar |
PMID:30455415 |
|
NCBI chr 8:39,082,693...39,093,344
Ensembl chr 8:39,083,327...39,093,277
|
|
|
G |
Ccn2 |
cellular communication network factor 2 |
|
IEP ISO |
mRNA:increased expression:left ventricle (rat) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21216836, PMID:19112094 |
RGD:2314539 |
NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
|
|
G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21216836 |
|
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
|
|
G |
Col3a1 |
collagen type III alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21216836 |
|
NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
|
|
G |
Col5a2 |
collagen type V alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Aortic valve regurgitation |
ClinVar |
PMID:30311386 |
|
NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
|
|
G |
Fbn1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Aortic valve regurgitation |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
|
|
G |
Fn1 |
fibronectin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21216836 |
|
NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
|
|
G |
Foxe3 |
forkhead box E3 |
|
ISO |
ClinVar Annotator: match by term: Aortic valve regurgitation |
ClinVar |
PMID:30311386 |
|
NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656
|
|
G |
Fstl1 |
follistatin-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21216836 |
|
NCBI chr11:65,791,196...65,845,721
Ensembl chr11:65,782,567...65,845,418
|
|
G |
Lox |
lysyl oxidase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21216836 |
|
NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
|
|
G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
associated with Rheumatic Fever;DNA:polymorphism:exon: |
RGD |
PMID:18400978 |
RGD:12910860 |
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
|
|
G |
Nppa |
natriuretic peptide A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21216836 |
|
NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
|
|
G |
Nppb |
natriuretic peptide B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21216836 |
|
NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21216836 |
|
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
|
|
G |
Tgfb2 |
transforming growth factor, beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21216836 |
|
NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
|
|
G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Aortic valve regurgitation |
ClinVar |
PMID:30311386 |
|
NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
|
|
G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21216836 |
|
NCBI chr X:1,364,771...1,369,451
Ensembl chr X:1,364,786...1,369,384
|
|
|
G |
Adrb1 |
adrenoceptor beta 1 |
|
ISO |
|
RGD |
PMID:1648674 |
RGD:7241565 |
NCBI chr 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985
|
|
G |
Apob |
apolipoprotein B |
|
ISO |
|
RGD |
PMID:11903341 |
RGD:1578425 |
NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
|
|
G |
Bambi |
BMP and activin membrane-bound inhibitor |
|
ISO |
protein:increased expression:myocardium: |
RGD |
PMID:23168040 |
RGD:14390160 |
NCBI chr17:56,905,419...56,909,675
Ensembl chr17:56,905,112...56,909,992
|
|
G |
Chrng |
cholinergic receptor nicotinic gamma subunit |
|
ISO |
ClinVar Annotator: match by term: Aortic stenosis |
ClinVar |
PMID:16826531 PMID:22167768 PMID:24038971 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26752647 PMID:27245440 PMID:30311386 |
|
NCBI chr 9:94,302,218...94,308,591
|
|
G |
Egfr |
epidermal growth factor receptor |
|
ISO |
|
RGD |
PMID:10700187 |
RGD:734918 |
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
|
|
G |
Egr1 |
early growth response 1 |
|
ISO |
protein:increased expression:aortic valve cusp |
RGD |
PMID:15597579 |
RGD:1626496 |
NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
|
|
G |
Eln |
elastin |
|
ISO |
|
RGD |
PMID:11175284 |
RGD:1580327 |
NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
|
|
G |
Eno3 |
enolase 3 |
|
IEP |
mRNA:decreased expression:cardiac muscle cell |
RGD |
PMID:8594891 |
RGD:2301765 |
NCBI chr10:57,278,271...57,283,661
Ensembl chr10:57,278,307...57,283,653
|
|
G |
Esr2 |
estrogen receptor 2 |
|
ISO |
|
RGD |
PMID:15533858 |
RGD:1580704 |
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
|
|
G |
Jarid2 |
jumonji and AT-rich interaction domain containing 2 |
|
ISO |
mRNA, protein:decreased expression:ventricle endocardium (human) |
RGD |
PMID:18805276 |
RGD:9586018 |
NCBI chr17:20,183,440...20,365,219
Ensembl chr17:20,184,245...20,364,714
|
|
G |
Lgals3 |
galectin 3 |
|
ISO |
|
RGD |
PMID:15520318 |
RGD:9685214 |
NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
|
|
G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
|
RGD |
PMID:15780799 |
RGD:1582522 |
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
|
|
G |
Nppc |
natriuretic peptide C |
|
IEP |
mRNA:decreased expression:aortic valve |
RGD |
PMID:17709640 |
RGD:1642267 |
NCBI chr 9:93,731,436...93,735,636
Ensembl chr 9:93,731,436...93,735,636
|
|
G |
Ogt |
O-linked N-acetylglucosamine (GlcNAc) transferase |
|
ISO |
mRNA:increased expression:heart left ventricle (human) |
RGD |
PMID:22128088 |
RGD:9590202 |
NCBI chr X:71,540,870...71,585,906
Ensembl chr X:71,528,988...71,585,908
|
|
G |
Ppp3cb |
protein phosphatase 3 catalytic subunit beta |
|
ISO |
|
RGD |
PMID:15533858 |
RGD:1580704 |
NCBI chr15:4,209,702...4,236,895
Ensembl chr15:4,209,703...4,236,895
|
|
G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
with Egfr mutation |
RGD |
PMID:10700187 |
RGD:734918 |
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
|
|
G |
Tnf |
tumor necrosis factor |
|
ISS |
OMIM:109730 | OMIM:614823 |
MouseDO |
|
|
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
|
|
G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:20211333 |
RGD:7205491 |
NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
|
|
G |
Vdr |
vitamin D receptor |
|
ISO |
|
RGD |
PMID:11359741 |
RGD:1580365 |
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
|
|
|
G |
Akt1 |
AKT serine/threonine kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23308213 |
|
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
|
|
G |
Cd40lg |
CD40 ligand |
treatment |
IDA |
|
RGD |
PMID:24374105 |
RGD:11352276 |
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
|
|
G |
Col5a1 |
collagen type V alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
|
|
G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
severity |
ISO |
|
RGD |
PMID:15120829 |
RGD:12910476 |
NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
|
|
G |
Notch1 |
notch receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF |
CTD ClinVar |
PMID:16025100 PMID:16729972 PMID:24113472 PMID:24728327 PMID:25587027 PMID:25741868 PMID:26188975 PMID:26708639 PMID:26820064 PMID:28492532 |
|
NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
|
|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
disease_progression |
ISO |
protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells |
RGD |
PMID:25722432, PMID:25722432 |
RGD:13207434, RGD:13207434 |
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
|
|
G |
Pth |
parathyroid hormone |
disease_progression |
IEP |
protein:increased expression:serum (rat) |
RGD |
PMID:22634235 |
RGD:7242900 |
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
|
|
G |
Slc20a1 |
solute carrier family 20 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23308213 |
|
NCBI chr 3:121,725,204...121,739,160
Ensembl chr 3:121,725,859...121,739,173
|
|
G |
Tp53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29358327 |
|
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
|
|
|
G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy |
ClinVar |
PMID:21686774 |
|
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
|
|
G |
Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy |
OMIM ClinVar |
PMID:21686774 |
|
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
|
|
|
G |
Myo6 |
myosin VI |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 22 ClinVar Annotator: match by OMIM:606346 |
OMIM ClinVar |
PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 PMID:18212818 PMID:18348273 PMID:24033266 PMID:25741868 PMID:26445815 PMID:26467025 PMID:28492532 |
|
NCBI chr 8:87,583,649...87,731,271
Ensembl chr 8:87,630,916...87,731,269
|
|
|
G |
Col1a2 |
collagen type I alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Bicuspid aortic valve |
ClinVar |
PMID:30311386 |
|
NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
|
|
G |
Dsg1 |
desmoglein 1 |
|
ISO |
ClinVar Annotator: match by term: Bicuspid aortic valve |
ClinVar |
|
|
NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
|
|
G |
Lsm1 |
LSM1 homolog, mRNA degradation associated |
|
ISO |
ClinVar Annotator: match by term: Bicuspid aortic valve |
ClinVar |
PMID:25741868 PMID:31010896 |
|
NCBI chr16:71,046,475...71,057,883
Ensembl chr16:71,046,475...71,057,883
|
|
G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Bicuspid aortic valve |
ClinVar |
PMID:18495510 |
|
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
|
|
G |
Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Bicuspid aortic valve |
ClinVar |
|
|
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
|
|
G |
Myh11 |
myosin heavy chain 11 |
|
ISO |
ClinVar Annotator: match by term: Bicuspid aortic valve |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
|
|
G |
Notch1 |
notch receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bicuspid aortic valve |
CTD ClinVar |
PMID:24728327 PMID:25741868 PMID:28492532 PMID:30311386 PMID:30455415 |
|
NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
|
|
G |
Pdia2 |
protein disulfide isomerase family A, member 2 |
|
ISO |
ClinVar Annotator: match by term: Bicuspid aortic valve |
ClinVar |
|
|
|
|
G |
Robo4 |
roundabout guidance receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bicuspid aortic valve |
CTD ClinVar |
PMID:30455415 |
|
NCBI chr 8:39,082,693...39,093,344
Ensembl chr 8:39,083,327...39,093,277
|
|
G |
Slc2a10 |
solute carrier family 2 member 10 |
|
ISO |
ClinVar Annotator: match by term: Bicuspid aortic valve |
ClinVar |
|
|
NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804
|
|
G |
Smad6 |
SMAD family member 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bicuspid aortic valve |
CTD ClinVar |
PMID:25741868 PMID:28492532 PMID:30455415 |
|
NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
|
|
|
G |
Abcc9 |
ATP binding cassette subfamily C member 9 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic |
ClinVar |
|
|
NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
|
|
G |
Acadvl |
acyl-CoA dehydrogenase, very long chain |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic |
ClinVar |
|
|
NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
|
|
G |
Actc1 |
actin, alpha, cardiac muscle 1 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic |
ClinVar |
PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 PMID:16611632 PMID:17611253 PMID:17623677 PMID:17916152 PMID:17947298 PMID:18379140 PMID:18400036 PMID:18506004 PMID:18519860 PMID:18801786 PMID:19184181 PMID:19467449 PMID:19799913 PMID:20497191 PMID:20965760 PMID:21297463 PMID:21524215 PMID:21551322 PMID:21622575 PMID:24033266 PMID:24736382 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:105,507,403...105,512,939
Ensembl chr 3:105,507,403...105,512,939
|
|
G |
Actn2 |
actinin alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar Annotator: match by term: Hereditary ventricular hypertrophy ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:14567970 PMID:17097056 PMID:20022194 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25224718 PMID:25611685 PMID:25626705 PMID:25741868 PMID:26899768 PMID:27287556 PMID:27532257 PMID:27854218 PMID:27884168 PMID:27896284 PMID:28301460 PMID:28492532 PMID:28790153 PMID:28986455 PMID:29247119 PMID:30311386 PMID:30615648 PMID:30775854 PMID:31333075 PMID:31568572 |
|
NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
|
|
G |
Ankrd1 |
ankyrin repeat domain 1 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
|
|
G |
Bag3 |
BAG cochaperone 3 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
|
|
G |
Calm3 |
calmodulin 3 |
susceptibility |
ISO |
DNA:polymorphism:promoter:¿¿¿34T>A(human) |
RGD |
PMID:19429631 |
RGD:13792494 |
NCBI chr 1:78,844,520...78,851,628
Ensembl chr 1:78,843,080...78,851,719
|
|
G |
Calr3 |
calreticulin 3 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic |
ClinVar |
|
|
NCBI chr16:19,097,391...19,124,062
Ensembl chr16:19,097,391...19,124,062
|
|
G |
Cav3 |
caveolin 3 |
|
ISO |
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:14672715 PMID:15580566 |
|
NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
|
|
G |
Comt |
catechol-O-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
|
|
G |
Cryab |
crystallin, alpha B |
|
ISO |
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:1560021 PMID:16483541 PMID:16793013 PMID:17116488 PMID:20171888 PMID:21920752 PMID:22106715 PMID:22995991 PMID:23194663 PMID:23299917 PMID:24033266 PMID:25073507 PMID:25208129 PMID:25741868 PMID:26694549 PMID:26961874 PMID:28492532 |
|
NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
|
|
G |
Csrp3 |
cysteine and glycine rich protein 3 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:16352453 PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532 |
|
NCBI chr 1:104,147,205...104,166,389
Ensembl chr 1:104,147,206...104,166,367
|
|
G |
Ctf1 |
cardiotrophin 1 |
|
ISO |
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:11058912 PMID:24033266 PMID:28492532 |
|
NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
|
|
G |
Ctnna3 |
catenin alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr20:25,063,124...26,640,428
Ensembl chr20:26,516,836...26,589,209
|
|
G |
Des |
desmin |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:17221859 PMID:18653338 PMID:19151983 PMID:20171226 PMID:20423733 PMID:20448486 PMID:22106715 PMID:22153487 PMID:22403400 PMID:23349452 PMID:24033266 PMID:25557463 PMID:26467025 PMID:27854218 PMID:28492532 |
|
NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
|
|
G |
Dlg4 |
discs large MAGUK scaffold protein 4 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic |
ClinVar |
|
|
NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
|
|
G |
Dmd |
dystrophin |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 |
|
NCBI chr X:51,149,358...53,519,271
Ensembl chr X:51,286,737...53,519,259
|
|
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 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
|
|
G |
Dsc2 |
desmocollin 2 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:7971964 PMID:17033975 PMID:20031616 PMID:20031617 PMID:20197793 PMID:20400443 PMID:20716751 PMID:20829228 PMID:21062920 PMID:21606390 PMID:21606396 PMID:21859740 PMID:23299917 PMID:23757202 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24967631 PMID:25351510 PMID:25447171 PMID:25637381 PMID:25741868 PMID:28255936 PMID:28492532 |
|
NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
|
|
G |
Dsg2 |
desmoglein 2 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:17105751 PMID:18678517 PMID:19039334 PMID:20031616 PMID:20031617 PMID:20716751 PMID:20864495 PMID:21606390 PMID:21606396 PMID:23810883 PMID:23861362 PMID:24033266 PMID:24055113 PMID:25741868 PMID:28492532 |
|
NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
|
|
G |
Dsp |
desmoplakin |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar Annotator: match by term: Hereditary ventricular hypertrophy |
ClinVar |
PMID:18632414 PMID:19924139 PMID:20738328 PMID:23381804 PMID:23861362 PMID:23911551 PMID:24033266 PMID:24125834 PMID:24503780 PMID:24704780 PMID:25225338 PMID:25351510 PMID:25693453 PMID:25741868 PMID:26585738 PMID:27854218 PMID:28492532 PMID:30354334 |
|
NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
|
|
G |
Dtna |
dystrobrevin, alpha |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr18:14,544,725...14,671,514
Ensembl chr18:14,471,213...14,657,332
|
|
G |
Emd |
emerin |
|
ISO |
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,452,847...156,455,858
Ensembl chr X:156,452,818...156,456,035
|
|
G |
Eya4 |
EYA transcriptional coactivator and phosphatase 4 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic |
ClinVar |
|
|
NCBI chr 1:23,237,617...23,611,580
Ensembl chr 1:23,409,408...23,610,164
|
|
G |
Fhl1 |
four and a half LIM domains 1 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:25246303 PMID:26857240 PMID:28492532 |
|
NCBI chr X:159,112,516...159,172,528
Ensembl chr X:159,112,880...159,172,524
|
|
G |
Fhl2 |
four and a half LIM domains 2 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic |
ClinVar |
|
|
NCBI chr 9:49,920,611...49,994,906
Ensembl chr 9:49,920,854...49,950,093
|
|
G |
Flnc |
filamin C |
|
ISO |
ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
|
|
G |
Gla |
galactosidase, alpha |
|
ISO |
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:2171331 PMID:8738659 PMID:9100224 PMID:9395081 PMID:9883849 PMID:10208848 PMID:10838196 PMID:10916280 PMID:11322659 PMID:11668641 PMID:11688386 PMID:12428061 PMID:15702404 PMID:15806320 PMID:16533976 PMID:16595074 PMID:16773563 PMID:17040996 PMID:17532296 PMID:17804462 PMID:18154965 PMID:18596132 PMID:20031620 PMID:20360539 PMID:20505683 PMID:21549080 PMID:21598360 PMID:22241068 PMID:22805550 PMID:23219219 PMID:23378663 PMID:23430526 PMID:23935525 PMID:24033266 PMID:24082139 PMID:24380807 PMID:24386359 PMID:24784157 PMID:25040344 PMID:25382311 PMID:25741868 PMID:27142856 PMID:27356758 PMID:27560961 PMID:27979989 PMID:28492532 PMID:28799081 PMID:29867742 PMID:29982630 |
|
NCBI chr X:105,405,915...105,417,331
Ensembl chr X:105,406,792...105,417,323
|
|
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 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24715918 PMID:25741868 PMID:25998140 PMID:28492532 PMID:28837624 |
|
NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
|
|
G |
Ilk |
integrin-linked kinase |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:29915097 |
|
NCBI chr 1:170,578,941...170,585,192
Ensembl chr 1:170,578,889...170,585,189
|
|
G |
Jph2 |
junctophilin 2 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:159,709,998...159,776,536
Ensembl chr 3:159,712,325...159,775,643
|
|
G |
Jup |
junction plakoglobin |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:21859740 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27662471 PMID:28492532 PMID:28831623 PMID:30311386 |
|
NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
|
|
G |
Kcne2 |
potassium voltage-gated channel subfamily E regulatory subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:15368194 PMID:16487223 PMID:22581653 PMID:24681347 PMID:25741868 PMID:28492532 |
|
NCBI chr11:32,434,786...32,447,264
Ensembl chr11:32,440,237...32,447,259
|
|
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:22581653 PMID:24606995 PMID:25417810 PMID:25741868 PMID:28492532 |
|
NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
|
|
G |
Lama4 |
laminin subunit alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 |
|
NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
|
|
G |
Lamp2 |
lysosomal-associated membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic |
ClinVar |
PMID:24033266 |
|
NCBI chr X:124,722,628...124,766,079
Ensembl chr X:124,722,628...124,766,044
|
|
G |
Ldb3 |
LIM domain binding 3 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29247119 PMID:30311386 PMID:31333075 PMID:31568572 |
|
NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
|
|
G |
Lmna |
lamin A/C |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:8621584 PMID:12057196 PMID:16407522 PMID:16585054 PMID:18414213 PMID:18714801 PMID:19589617 PMID:20627339 PMID:21535365 PMID:22071332 PMID:23142632 PMID:24033266 PMID:24375749 PMID:24503780 PMID:24846508 PMID:25525159 PMID:25741868 PMID:27532257 PMID:28492532 PMID:28518168 PMID:28663758 PMID:28679633 PMID:29095976 PMID:29237690 PMID:31333075 PMID:31568572 |
|
NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
|
|
G |
Mib1 |
MIB E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic |
ClinVar |
|
|
NCBI chr18:1,970,914...2,094,920
Ensembl chr18:1,970,914...2,094,920
|
|
G |
Mybpc3 |
myosin binding protein C3 |
|
ISO |
DNA:nonsense mutations: :multiple ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar Annotator: match by term: Hereditary ventricular hypertrophy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial 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 |
PMID:1853307 PMID:2073894 PMID:2732257 PMID:2943217 PMID:7493025 PMID:7493026 PMID:9048664 PMID:9241277 PMID:9503187 PMID:9562578 PMID:9631872 PMID:9742053 PMID:10521296 PMID:10610770 PMID:10736283 PMID:11499718 PMID:11499719 PMID:11748309 PMID:11815426 PMID:11847170 PMID:12110947 PMID:12117842 PMID:12202917 PMID:12386147 PMID:12403824 PMID:12566107 PMID:12628722 PMID:12707239 PMID:12818575 PMID:12951062 PMID:12974739 PMID:14563344 PMID:15010274 PMID:15114369 PMID:15115610 PMID:15166115 PMID:15519027 PMID:15563892 PMID:15769446 PMID:15823648 PMID:15936968 PMID:16004897 PMID:16181148 PMID:16199542 PMID:16267253 PMID:16335287 PMID:16566405 PMID:16651346 PMID:16679492 PMID:16715312 PMID:16754800 PMID:16831826 PMID:16858239 PMID:17081393 PMID:17560888 PMID:17908752 PMID:18258667 PMID:18374358 PMID:18400036 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:18713777 PMID:18761664 PMID:18809796 PMID:18926831 PMID:18929575 PMID:18957093 PMID:19035361 PMID:19150014 PMID:19273718 PMID:19293840 PMID:19356534 PMID:19574547 PMID:19590044 PMID:19659763 PMID:19808356 PMID:19996403 PMID:20019025 PMID:20031602 PMID:20031618 PMID:20045868 PMID:20051424 PMID:20128375 PMID:20159828 PMID:20173211 PMID:20215591 PMID:20359594 PMID:20378854 PMID:20414521 PMID:20433692 PMID:20435227 PMID:20439259 PMID:20474083 PMID:20505798 PMID:20530761 PMID:20624503 PMID:20738943 PMID:20800588 PMID:20818890 PMID:20864638 PMID:21088121 PMID:21185001 PMID:21239446 PMID:21252143 PMID:21297165 PMID:21302287 PMID:21310275 PMID:21415409 PMID:21424860 PMID:21472310 PMID:21488259 PMID:21488307 PMID:21499742 PMID:21511876 PMID:21551322 PMID:21638988 PMID:21750094 PMID:21817903 PMID:21832025 PMID:21832052 PMID:21835320 PMID:21839045 PMID:21943931 PMID:21959974 PMID:21985754 PMID:22057632 PMID:22115648 PMID:22177269 PMID:22194935 PMID:22267749 PMID:22337857 PMID:22361390 PMID:22386539 PMID:22429680 PMID:22455086 PMID:22462493 PMID:22464770 PMID:22555271 PMID:22560514 PMID:22563033 PMID:22569109 PMID:22574137 PMID:22589294 PMID:22763267 PMID:22765922 PMID:22857948 PMID:22907696 PMID:22958901 PMID:22995991 PMID:23054336 PMID:23074333 PMID:23140321 PMID:23164068 PMID:23197398 PMID:23217326 PMID:23233322 PMID:23283745 PMID:23299917 PMID:23348723 PMID:23349452 PMID:23396983 PMID:23418287 PMID:23527136 PMID:23534983 PMID:23549607 PMID:23642604 PMID:23674513 PMID:23690394 PMID:23711808 PMID:23782526 PMID:23820649 PMID:23840593 PMID:23861362 PMID:23896226 PMID:23980194 PMID:24033266 PMID:24055113 PMID:24062880 PMID:24083979 PMID:24093860 PMID:24111713 PMID:24113344 PMID:24119082 PMID:24503780 PMID:24510615 PMID:24602869 PMID:24621997 PMID:24704860 PMID:24721642 PMID:24774285 PMID:24774606 PMID:24793961 PMID:24795128 PMID:24810389 PMID:24835277 PMID:24865491 PMID:25031304 PMID:25037680 PMID:25058872 PMID:25078086 PMID:25086479 PMID:25127965 PMID:25163546 PMID:25210889 PMID:25214167 PMID:25262865 PMID:25335496 PMID:25342278 PMID:25351510 PMID:25377941 PMID:25443708 PMID:25447171 PMID:25524337 PMID:25525159 PMID:25558701 PMID:25569433 PMID:25611685 PMID:25631583 PMID:25637381 PMID:25740977 PMID:25741868 PMID:25741869 PMID:25971843 PMID:26090888 PMID:26178432 PMID:26189708 PMID:26267065 PMID:26332198 PMID:26332594 PMID:26383716 PMID:26458567 PMID:26467025 PMID:26654849 PMID:26671970 PMID:26688216 PMID:26822237 PMID:26899768 PMID:26914223 PMID:26936621 PMID:27096365 PMID:27108529 PMID:27112610 PMID:27153395 PMID:27194543 PMID:27267291 PMID:27418595 PMID:27435932 PMID:27483260 PMID:27532257 PMID:27561770 PMID:27576561 PMID:27600940 PMID:27618852 PMID:27650965 PMID:27688314 PMID:27737317 PMID:27831900 PMID:27834932 PMID:27841901 PMID:27854218 PMID:27896284 PMID:27930701 PMID:28024942 PMID:28074886 PMID:28087566 PMID:28138913 PMID:28166282 PMID:28193612 PMID:28214152 PMID:28323875 PMID:28356264 PMID:28408708 PMID:28416588 PMID:28420666 PMID:28436997 PMID:28492532 PMID:28498465 PMID:28518168 PMID:28538763 PMID:28614222 PMID:28615295 PMID:28679633 PMID:28750076 PMID:28771489 PMID:28790153 PMID:28794111 PMID:28807990 PMID:28971120 PMID:29029073 PMID:29032884 PMID:29121657 PMID:29212898 PMID:29247119 PMID:29367541 PMID:29447731 PMID:29451820 PMID:29497013 PMID:29540445 PMID:29555771 PMID:29661763 PMID:29663722 PMID:29709087 PMID:29710196 PMID:29875314 PMID:29875424 PMID:29988065 PMID:30165862 PMID:30206291 PMID:30297972 PMID:30311386 PMID:30645170 PMID:30762279 PMID:30847666 PMID:30871747 PMID:30959811 PMID:31333075 PMID:31568572 PMID:397516074, PMID:9048664, PMID:12110947, PMID:16004897, PMID:9562578 |
RGD:1580239, RGD:1580237, RGD:1580234, RGD:1580238 |
NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
|
|
G |
Myh6 |
myosin heavy chain 6 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic |
ClinVar CTD |
PMID:11815426 PMID:15998695 PMID:20215591 PMID:20656787 PMID:22011241 PMID:22194935 PMID:22361390 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24082139 PMID:24119082 PMID:25351510 PMID:25467552 PMID:25500235 PMID:25741868 PMID:25931334 PMID:26085007 PMID:26656175 PMID:27194543 PMID:27760138 PMID:27789736 PMID:28088328 PMID:28416588 PMID:28492532, PMID:8614836 |
RGD:11065341 |
NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
|
|
G |
Myh7 |
myosin heavy chain 7 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar Annotator: match by term: Primary familial Hypertrophic cardiomyopathy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic |
ClinVar CTD |
PMID:1423936 PMID:1430197 PMID:1552912 PMID:1634614 PMID:1638703 PMID:1739523 PMID:1975517 PMID:1975599 PMID:2249844 PMID:7581410 PMID:7731997 PMID:7788887 PMID:7789380 PMID:7796500 PMID:7848441 PMID:7874131 PMID:7883988 PMID:7994801 PMID:8250038 PMID:8281650 PMID:8282798 PMID:8335820 PMID:8435239 PMID:8483915 PMID:8514894 PMID:8533830 PMID:8614836 PMID:8655135 PMID:8788376 PMID:8898372 PMID:8981935 PMID:9001794 PMID:9058851 PMID:9062359 PMID:9105042 PMID:9140839 PMID:9154300 PMID:9172070 PMID:9271024 PMID:9541509 PMID:9544842 PMID:9822100 PMID:9826622 PMID:9829907 PMID:9835779 PMID:10024460 PMID:10086390 PMID:10328076 PMID:10521296 PMID:10567705 PMID:10606622 PMID:10662815 PMID:10725281 PMID:10750581 PMID:10764406 PMID:10862102 PMID:10874840 PMID:10882745 PMID:10957787 PMID:11113006 PMID:11133230 PMID:11186938 PMID:11227787 PMID:11377367 PMID:11424919 PMID:11433818 PMID:11447480 PMID:11498078 PMID:11723028 PMID:11861410 PMID:11861413 PMID:11904418 PMID:12081993 PMID:12084606 PMID:12117842 PMID:12473556 PMID:12566107 PMID:12601548 PMID:12707239 PMID:12820698 PMID:12881443 PMID:12951062 PMID:12953063 PMID:12974739 PMID:12975413 PMID:13732753 PMID:14656445 PMID:15000344 PMID:15001446 PMID:15008060 PMID:15136674 PMID:15358028 PMID:15483641 PMID:15519027 PMID:15528230 PMID:15550524 PMID:15556047 PMID:15563892 PMID:15757018 PMID:15856146 PMID:15858117 PMID:16115294 PMID:16137545 PMID:16199542 PMID:16253604 PMID:16267253 PMID:16335287 PMID:16352453 PMID:16504640 PMID:16630450 PMID:16650083 PMID:16715312 PMID:16858239 PMID:16918501 PMID:17097032 PMID:17125710 PMID:17180650 PMID:17192269 PMID:17351073 PMID:17383184 PMID:17438619 PMID:17476457 PMID:17495353 PMID:17502101 PMID:17560888 PMID:17599605 PMID:17703256 PMID:17987111 PMID:18020371 PMID:18029407 PMID:18175163 PMID:18258667 PMID:18374998 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18411228 PMID:18414213 PMID:18533079 PMID:18565996 PMID:18761664 PMID:18953637 PMID:19149795 PMID:19150014 PMID:19645038 PMID:19651039 PMID:19659763 PMID:19666645 PMID:19808356 PMID:19880069 PMID:20031602 PMID:20031618 PMID:20075948 PMID:20086309 PMID:20215591 PMID:20298698 PMID:20350521 PMID:20359594 PMID:20378854 PMID:20428263 PMID:20624503 PMID:20664766 PMID:20800588 PMID:20819418 PMID:20865685 PMID:20975235 PMID:21127202 PMID:21211974 PMID:21239280 PMID:21239446 PMID:21252143 PMID:21302287 PMID:21310275 PMID:21425739 PMID:21511876 PMID:21576279 PMID:21642240 PMID:21674835 PMID:21750094 PMID:21769673 PMID:21799269 PMID:21817903 PMID:21835320 PMID:21839045 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22213221 PMID:22260945 PMID:22267749 PMID:22429680 PMID:22455086 PMID:22735528 PMID:22763267 PMID:22765922 PMID:22857948 PMID:22958901 PMID:23054336 PMID:23074333 PMID:23140321 PMID:23197161 PMID:23233322 PMID:23271734 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23318932 PMID:23349452 PMID:23396983 PMID:23403236 PMID:23408646 PMID:23508784 PMID:23580644 PMID:23674513 PMID:23690394 PMID:23711808 PMID:23712688 PMID:23751935 PMID:23782526 PMID:23785128 PMID:23794396 PMID:23798412 PMID:23816408 PMID:23861362 PMID:23896226 PMID:24033266 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24183960 PMID:24268868 PMID:24344137 PMID:24498601 PMID:24510615 PMID:24621997 PMID:24704860 PMID:24793961 PMID:24829265 PMID:24835277 PMID:24888384 PMID:24928957 PMID:25031304 PMID:25078086 PMID:25086479 PMID:25132132 PMID:25239116 PMID:25326637 PMID:25342278 PMID:25346696 PMID:25351510 PMID:25467552 PMID:25524337 PMID:25558701 PMID:25569433 PMID:25611685 PMID:25637381 PMID:25714468 PMID:25741868 PMID:25892673 PMID:25935763 PMID:25937619 PMID:25961035 PMID:26187847 PMID:26246073 PMID:26332594 PMID:26458567 PMID:26467025 PMID:26573135 PMID:26627873 PMID:26743238 PMID:26912705 PMID:26914223 PMID:26936621 PMID:26969127 PMID:26969327 PMID:27000522 PMID:27066507 PMID:27082122 PMID:27153395 PMID:27161364 PMID:27247418 PMID:27352967 PMID:27387980 PMID:27460395 PMID:27483260 PMID:27532257 PMID:27574918 PMID:27688314 PMID:27707468 PMID:27737317 PMID:27831900 PMID:27841901 PMID:27930701 PMID:27974200 PMID:28087426 PMID:28138913 PMID:28193612 PMID:28202948 PMID:28241245 PMID:28296734 PMID:28356264 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28518168 PMID:28606303 PMID:28611029 PMID:28615295 PMID:28640247 PMID:28687478 PMID:28704380 PMID:28771489 PMID:28790153 PMID:28794111 PMID:28798025 PMID:28971120 PMID:29029073 PMID:29101517 PMID:29121657 PMID:29169752 PMID:29300372 PMID:29343710 PMID:29661763 PMID:29709087 PMID:29875424 PMID:29907873 PMID:30022097 PMID:30206291 PMID:30217213 PMID:30275503 PMID:30297972 PMID:30311386 PMID:30623132 PMID:30775854 PMID:30871747 PMID:31112422 PMID:31333075 PMID:31568572 PMID:31638223 |
|
NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
|
|
G |
Myl2 |
myosin light chain 2 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic DNA:missense mutations, splice-site mutation:exon, intron:multiple DNA:missense mutations:exon:p.F18L, p.R58Q (human) |
ClinVar CTD |
PMID:8673105 PMID:9241277 PMID:09535554 PMID:11102452 PMID:11748309 PMID:12404107 PMID:12668451 PMID:12707239 PMID:12818575 PMID:14594949 PMID:15483641 PMID:15706574 PMID:16837010 PMID:18506004 PMID:18533079 PMID:18929571 PMID:19150977 PMID:20173211 PMID:20855589 PMID:21310275 PMID:21415409 PMID:21723297 PMID:21835320 PMID:22091967 PMID:22260945 PMID:22797899 PMID:22958901 PMID:23197161 PMID:23283745 PMID:23299917 PMID:23343568 PMID:23396983 PMID:23727233 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24111713 PMID:24793961 PMID:25324513 PMID:25333069 PMID:25351510 PMID:25524337 PMID:25637381 PMID:25741868 PMID:26116789 PMID:26187847 PMID:26284228 PMID:26664906 PMID:26914223 PMID:27153395 PMID:27435932 PMID:27483260 PMID:27532257 PMID:27600940 PMID:28223422 PMID:28467684 PMID:28492532 PMID:28771489 PMID:29398688 PMID:29452157 PMID:29710196 PMID:30403391 PMID:30430732, PMID:11748309, PMID:9535554 |
RGD:1580241, RGD:1580240 |
NCBI chr12:39,951,863...39,959,065
Ensembl chr12:39,951,987...39,958,239
|
|
G |
Myl3 |
myosin light chain 3 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:8673105 PMID:11174330 PMID:12021217 PMID:16754800 PMID:20641121 PMID:21239446 PMID:21823217 PMID:22131351 PMID:22957257 PMID:22958901 PMID:23283745 PMID:23396983 PMID:23426552 PMID:23549607 PMID:23594557 PMID:23748425 PMID:24033266 PMID:24111713 PMID:25132132 PMID:25326637 PMID:25342278 PMID:25351510 PMID:25611685 PMID:25637381 PMID:25741868 PMID:25910212 PMID:26633542 PMID:27483260 PMID:27532257 PMID:27574918 PMID:28356264 PMID:28371863 PMID:28492532 PMID:28518168 PMID:28658286 PMID:28771489 PMID:28971120 PMID:29669825 PMID:29710196 PMID:29914921 PMID:30297972 PMID:30706179 PMID:31110529 PMID:31199839 |
|
NCBI chr 8:119,030,852...119,036,996
Ensembl chr 8:119,030,875...119,036,996
|
|
G |
Myl9 |
myosin light chain 9 |
|
ISO |
|
RGD |
PMID:16076902 |
RGD:1582589 |
NCBI chr 3:152,857,573...152,863,961
Ensembl chr 3:152,857,592...152,863,960
|
|
G |
Mylk2 |
myosin light chain kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic |
ClinVar |
|
|
NCBI chr 3:148,386,185...148,397,851
Ensembl chr 3:148,386,189...148,399,501
|
|
G |
Myom1 |
myomesin 1 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:24033266 PMID:28492532 |
|
NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
|
|
G |
Myoz2 |
myozenin 2 |
|
ISO |
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:25326637 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 |
|
NCBI chr 2:227,180,887...227,207,629
Ensembl chr 2:227,180,886...227,207,635
|
|
G |
Mypn |
myopalladin |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:18006477 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 |
|
NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
|
|
G |
Nebl |
nebulette |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr17:84,141,014...84,247,038
Ensembl chr17:84,140,489...84,488,601
|
|
G |
Nexn |
nexilin (F actin binding protein) |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:20970104 PMID:24033266 PMID:24503780 PMID:25741868 PMID:27532257 PMID:28492532 PMID:28798025 |
|
NCBI chr 2:257,452,937...257,484,607
Ensembl chr 2:257,453,347...257,484,587
|
|
G |
Pdlim3 |
PDZ and LIM domain 3 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic |
ClinVar |
|
|
NCBI chr16:49,543,140...49,574,362
Ensembl chr16:49,543,142...49,574,390
|
|
G |
Pkp2 |
plakophilin 2 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:19955750 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20857253 PMID:21062920 PMID:21606390 PMID:22170284 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24352520 PMID:25395996 PMID:25741868 PMID:26676851 PMID:28341588 PMID:28492532 PMID:31539150 |
|
NCBI chr11:88,912,163...88,972,213
|
|
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 chr 5:171,662,277...171,711,561
Ensembl chr 5:171,662,277...171,710,316
|
|
G |
Prkag2 |
protein kinase AMP-activated non-catalytic subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar Annotator: match by term: Hereditary ventricular hypertrophy |
ClinVar |
PMID:10355918 PMID:10820940 PMID:11407343 PMID:11827995 PMID:14722619 PMID:15611370 PMID:15673802 PMID:16836667 PMID:17483151 PMID:17711718 PMID:19808419 PMID:20031621 PMID:20381067 PMID:20888928 PMID:23778007 PMID:23829931 PMID:23992123 PMID:24033266 PMID:25326637 PMID:25741868 PMID:25997934 PMID:27532257 PMID:28341588 PMID:28431061 PMID:28492532 PMID:28917552 PMID:29298659 PMID:30311386 |
|
NCBI chr 4:6,559,153...6,799,888
Ensembl chr 4:6,559,545...6,799,632
|
|
G |
Raf1 |
Raf-1 proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:12077328 PMID:17603482 PMID:17603483 PMID:17603486 PMID:17603487 PMID:20052757 PMID:20679480 PMID:20683980 PMID:21784453 PMID:22465605 PMID:22781091 PMID:23737487 PMID:23885229 PMID:24033266 PMID:24803665 PMID:25741868 PMID:26266034 PMID:26580448 PMID:28492532 PMID:28750076 PMID:29493581 |
|
NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
|
|
G |
Rbm20 |
RNA binding motif protein 20 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:274,391,932...274,589,816
Ensembl chr 1:274,391,932...274,589,816
|
|
G |
Ryr2 |
ryanodine receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic |
ClinVar |
PMID:23861362 PMID:24033266 PMID:25163546 PMID:25650408 PMID:25741868 PMID:26656175 PMID:27054166 PMID:27930701 PMID:28492532 |
|
NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
|
|
G |
Scn5a |
sodium voltage-gated channel alpha subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:8661019 PMID:10690282 PMID:10727653 PMID:11823453 PMID:12639704 PMID:15121794 PMID:15689442 PMID:15851227 PMID:15851440 PMID:15992732 PMID:16155735 PMID:16568155 PMID:16707561 PMID:17210839 PMID:17605181 PMID:17905336 PMID:18245395 PMID:18378609 PMID:18976777 PMID:19251209 PMID:19412328 PMID:19841300 PMID:20110800 PMID:20129283 PMID:20486126 PMID:20981092 PMID:22378279 PMID:22519808 PMID:22581653 PMID:22682427 PMID:22840528 PMID:23174487 PMID:23321620 PMID:23414114 PMID:23465283 PMID:23853484 PMID:23861362 PMID:24033266 PMID:24529773 PMID:24573164 PMID:24784157 PMID:24795344 PMID:25051102 PMID:25172307 PMID:25650408 PMID:25741868 PMID:25748040 PMID:26111534 PMID:26131924 PMID:26159999 PMID:26467025 PMID:27153395 PMID:27281089 PMID:27554632 PMID:28472724 PMID:28491758 PMID:28492532 PMID:28493952 PMID:28498465 PMID:28638671 PMID:28798025 PMID:29672598 PMID:29997009 PMID:30079003 PMID:30146492 PMID:30419068 PMID:31333075 PMID:31568572 |
|
NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
|
|
G |
Shoc2 |
SHOC2 leucine-rich repeat scaffold protein |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic |
ClinVar |
|
|
NCBI chr 1:274,700,621...274,751,195
Ensembl chr 1:274,688,580...274,751,816
|
|
G |
Sos1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic |
ClinVar |
PMID:24033266 |
|
NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
|
|
G |
Taf10 |
TATA-box binding protein associated factor 10 |
|
ISO |
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:24033266 PMID:28492532 PMID:29915097 |
|
NCBI chr 1:170,585,160...170,586,428
Ensembl chr 1:170,585,167...170,586,603
|
|
G |
Taz |
tafazzin |
|
ISO |
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,421,006...156,429,461
Ensembl chr X:156,421,009...156,428,593
|
|
G |
Tcap |
titin-cap |
|
ISO |
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar Annotator: match by term: Hereditary ventricular hypertrophy |
ClinVar |
PMID:12955720 PMID:15689448 PMID:16783378 PMID:16911908 PMID:18414213 PMID:18484607 PMID:18585512 PMID:19035361 PMID:19412328 PMID:19881469 PMID:20215591 PMID:20301515 PMID:20301718 PMID:20301788 PMID:20474083 PMID:21735565 PMID:21943391 PMID:22194935 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24037902 PMID:24503780 PMID:25326637 PMID:25741868 PMID:26084686 PMID:26332198 PMID:26350513 PMID:26467025 PMID:27532257 PMID:27854218 PMID:28492532 PMID:30311386 PMID:30871747 |
|
NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
|
|
G |
Tmem43 |
transmembrane protein 43 |
|
ISO |
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
|
|
G |
Tmpo |
thymopoietin |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
|
|
G |
Tnni3 |
troponin I3, cardiac type |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:3144325 PMID:9241277 PMID:10098965 PMID:10806205 PMID:11735257 PMID:11801593 PMID:11815426 PMID:12531876 PMID:12707239 PMID:12860912 PMID:15070570 PMID:15201162 PMID:15524171 PMID:15607392 PMID:15631686 PMID:15698845 PMID:15961398 PMID:15992656 PMID:16020591 PMID:16199542 PMID:16335287 PMID:16352453 PMID:16531415 PMID:17027633 PMID:17463320 PMID:18408133 PMID:18423659 PMID:19033660 PMID:19289050 PMID:19449150 PMID:19645627 PMID:19754353 PMID:19914256 PMID:20161772 PMID:20350521 PMID:20624503 PMID:20641121 PMID:20800588 PMID:21239446 PMID:21310275 PMID:21511876 PMID:21533915 PMID:21799269 PMID:21839045 PMID:21896538 PMID:21967901 PMID:22112859 PMID:22301726 PMID:22429680 PMID:22675533 PMID:22876777 PMID:23270746 PMID:23283745 PMID:23396983 PMID:23540544 PMID:23610579 PMID:23906401 PMID:23967088 PMID:24033266 PMID:24111713 PMID:24113344 PMID:24474965 PMID:24510615 PMID:24704860 PMID:25132132 PMID:25228707 PMID:25239116 PMID:25326637 PMID:25342278 PMID:25351510 PMID:25440410 PMID:25524337 PMID:25558701 PMID:25611685 PMID:25741868 PMID:25940119 PMID:26169204 PMID:26506446 PMID:26741492 PMID:26914223 PMID:27532257 PMID:27600940 PMID:28138913 PMID:28166811 PMID:28193612 PMID:28356264 PMID:28492532 PMID:28771489 PMID:28790153 PMID:30384889 PMID:31333075 PMID:31568572 |
|
NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
|
|
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 chr 1:72,889,270...72,899,629
Ensembl chr 1:72,889,270...72,899,659
|
|
G |
Tnnt2 |
troponin T2, cardiac type |
|
ISO |
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial |
ClinVar CTD |
PMID:2946667 PMID:7898523 PMID:8205619 PMID:8951566 PMID:9060892 PMID:9140840 PMID:9201030 PMID:9241277 PMID:10085122 PMID:10405326 PMID:10467159 PMID:10497196 PMID:10521296 PMID:10525521 PMID:10610467 PMID:10617660 PMID:10978365 PMID:11346248 PMID:11432788 PMID:11560853 PMID:11606294 PMID:11968089 PMID:12084606 PMID:12409295 PMID:12600890 PMID:12707239 PMID:12818575 PMID:12860912 PMID:12881443 PMID:14563299 PMID:14636924 PMID:14640471 PMID:14654368 PMID:14722098 PMID:15246915 PMID:15519027 PMID:15542288 PMID:15631686 PMID:15958377 PMID:16115294 PMID:16115869 PMID:16199542 PMID:16326803 PMID:16715312 PMID:16754800 PMID:16777946 PMID:16858239 PMID:17101185 PMID:17612745 PMID:18029407 PMID:18403758 PMID:18533079 PMID:19033660 PMID:19035361 PMID:19150014 PMID:19275886 PMID:19412328 PMID:19645627 PMID:19880069 PMID:19914256 PMID:20031601 PMID:20031602 PMID:20031618 PMID:20038417 PMID:20215591 PMID:20414521 PMID:20439259 PMID:20530761 PMID:20624503 PMID:20800588 PMID:21310275 PMID:21483645 PMID:21511876 PMID:21683708 PMID:21846512 PMID:22017532 PMID:22112859 PMID:22144547 PMID:22321274 PMID:22334656 PMID:22455086 PMID:22500102 PMID:22579624 PMID:22857948 PMID:22958901 PMID:23074333 PMID:23233322 PMID:23283745 PMID:23299917 PMID:23396983 PMID:23494605 PMID:23674365 PMID:23711808 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24111713 PMID:24418317 PMID:24503780 PMID:24721642 PMID:25086479 PMID:25351510 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25668678 PMID:25741868 PMID:26183555 PMID:26468400 PMID:26507537 PMID:26633542 PMID:26656175 PMID:26681313 PMID:26688388 PMID:26743238 PMID:26914223 PMID:27022107 PMID:27074551 PMID:27082122 PMID:27483260 PMID:27493864 PMID:27532257 PMID:27600940 PMID:27930701 PMID:28193612 PMID:28356264 PMID:28492532 PMID:28771489 PMID:28790153 PMID:28973083 PMID:29121657 PMID:29661763 PMID:29907873 PMID:30165862 PMID:30311386, PMID:7898523 |
RGD:1559062 |
NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
|
|
G |
Tpm1 |
tropomyosin 1 |
|
ISO |
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar Annotator: match by term: Hereditary ventricular hypertrophy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial |
ClinVar CTD |
PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 PMID:09060904 PMID:9241277 PMID:9245729 PMID:09440709 PMID:09822100 PMID:10400910 PMID:10900175 PMID:11606294 PMID:11968089 PMID:12473556 PMID:12858563 PMID:12860912 PMID:14734051 PMID:15000344 PMID:15519027 PMID:16014439 PMID:16365313 PMID:16504640 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:19035361 PMID:20031602 PMID:20965760 PMID:21295541 PMID:21310275 PMID:21320446 PMID:21376702 PMID:21551322 PMID:21835320 PMID:22112859 PMID:22155441 PMID:22187526 PMID:22462493 PMID:22789852 PMID:22794249 PMID:23204897 PMID:23396983 PMID:23508784 PMID:23700264 PMID:23771913 PMID:24033266 PMID:24510615 PMID:24753537 PMID:25241052 PMID:25524337 PMID:25548289 PMID:25607779 PMID:25611685 PMID:25741868 PMID:26936621 PMID:26960954 PMID:27376658 PMID:27532257 PMID:27600940 PMID:27639548 PMID:28138913 PMID:28492532 PMID:29121657 PMID:29760186 PMID:30165862 PMID:30240712 PMID:30311386 PMID:31308319, PMID:15000344 |
RGD:1580447 |
NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
|
|
G |
Trim63 |
tripartite motif containing 63 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:22821932 PMID:24436435 PMID:25801283 PMID:28492532 |
|
NCBI chr 5:152,533,362...152,547,138
Ensembl chr 5:152,533,349...152,547,179
|
|
G |
Ttn |
titin |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic |
ClinVar |
PMID:11846417 PMID:18414213 PMID:23396983 PMID:23861362 PMID:24033266 PMID:25589632 PMID:25741868 PMID:26467025 PMID:28045975 PMID:28492532 |
|
NCBI chr 3:63,565,160...63,837,815
|
|
G |
Ttr |
transthyretin |
|
ISO |
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:25741868 PMID:26537620 PMID:28492532 |
|
NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
|
|
G |
Txnrd2 |
thioredoxin reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:26833332 PMID:28492532 |
|
NCBI chr11:86,667,994...86,716,063
Ensembl chr11:86,667,997...86,716,254
|
|
G |
Vcl |
vinculin |
|
ISO |
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy |
ClinVar |
PMID:20474083 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25351510 PMID:26656175 PMID:28492532 |
|
NCBI chr15:3,455,211...3,544,738
Ensembl chr15:3,455,211...3,544,702
|
|
|
G |
Calr3 |
calreticulin 3 |
|
ISO |
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 19 |
ClinVar |
PMID:17655857 PMID:23861362 PMID:25163546 PMID:25741868 PMID:28492532 PMID:29988065 |
|
NCBI chr16:19,097,391...19,124,062
Ensembl chr16:19,097,391...19,124,062
|
|
|
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:10749987 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 PMID:16326995 PMID:18924171 PMID:23643385 PMID:25741868 PMID:25959673 PMID:28492532 PMID:30311386 |
|
NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
|
|
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 chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
|
|
|
G |
Coa5 |
cytochrome C oxidase assembly factor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 9:44,011,471...44,024,876
Ensembl chr 9:44,011,471...44,024,876
|
|
G |
Coa6 |
cytochrome c oxidase assembly factor 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr19:59,327,328...59,333,706
Ensembl chr19:59,328,960...59,331,192
|
|
G |
Cox15 |
cytochrome c oxidase assembly homolog COX15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505
|
|
G |
Ncaph2 |
non-SMC condensin II complex, subunit H2 |
|
ISO |
ClinVar Annotator: match by term: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1 |
ClinVar |
PMID:23643385 PMID:25741868 PMID:28492532 |
|
NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
|
|
G |
Tymp |
thymidine phosphorylase |
|
ISO |
ClinVar Annotator: match by term: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1 |
ClinVar |
PMID:23643385 PMID:25741868 PMID:28492532 |
|
NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
|
|
|
G |
Cox15 |
cytochrome c oxidase assembly homolog COX15 |
|
ISO |
ClinVar Annotator: match by OMIM:615119 ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 |
ClinVar OMIM |
PMID:2175025 PMID:12474143 PMID:15235026 PMID:15863660 PMID:21412973 PMID:22310368 PMID:25741868 PMID:26959537 PMID:28492532 |
|
NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505
|
|
|
G |
Coa5 |
cytochrome C oxidase assembly factor 5 |
|
ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 |
ClinVar OMIM |
PMID:21457908 |
|
NCBI chr 9:44,011,471...44,024,876
Ensembl chr 9:44,011,471...44,024,876
|
|
|
G |
Coa6 |
cytochrome c oxidase assembly factor 6 |
|
ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 |
ClinVar OMIM |
PMID:22277967 PMID:24549041 PMID:25339201 PMID:25959673 PMID:26160915 |
|
NCBI chr19:59,327,328...59,333,706
Ensembl chr19:59,328,960...59,331,192
|
|
|
G |
Abcc9 |
ATP binding cassette subfamily C member 9 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
|
|
G |
Ace |
angiotensin I converting enzyme |
no_association |
ISO |
DNA:insertion/deletion:intron |
RGD |
PMID:9270088 |
RGD:1566491 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
|
|
G |
Ace2 |
angiotensin I converting enzyme 2 |
|
ISO |
mRNA, protein:increased expression:myocardium (human) |
RGD |
PMID:32448590 |
RGD:40818260 |
NCBI chr X:32,050,734...32,095,860
Ensembl chr X:32,049,931...32,096,016
|
|
G |
Acp2 |
acid phosphatase 2, lysosomal |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:80,020,346...80,030,365
Ensembl chr 3:80,021,440...80,030,363
|
|
G |
Actc1 |
actin, alpha, cardiac muscle 1 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 PMID:16611632 PMID:17611253 PMID:17623677 PMID:17916152 PMID:17947298 PMID:18379140 PMID:18400036 PMID:18506004 PMID:18519860 PMID:18801786 PMID:19184181 PMID:19467449 PMID:19799913 PMID:20497191 PMID:20965760 PMID:21297463 PMID:21524215 PMID:21551322 PMID:21622575 PMID:21839045 PMID:22563033 PMID:24033266 PMID:24736382 PMID:25239116 PMID:25741868 PMID:27532257 PMID:28408708 PMID:28492532 PMID:28790153 |
|
NCBI chr 3:105,507,403...105,512,939
Ensembl chr 3:105,507,403...105,512,939
|
|
G |
Actg1 |
actin, gamma 1 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:30311386 |
|
NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954 Ensembl chr10:75,643,054...75,644,954
|
|
G |
Actn2 |
actinin alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:17097056 PMID:20022194 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24082139 PMID:25224718 PMID:25741868 PMID:26084686 PMID:26132555 PMID:27287556 PMID:27532257 PMID:27884168 PMID:28492532 PMID:30311386 |
|
NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
|
|
G |
Adgrl4 |
adhesion G protein-coupled receptor L4 |
|
ISO |
protein:decreased expression:heart: |
RGD |
PMID:22606234 |
RGD:13838662 |
NCBI chr 2:256,609,787...256,724,642
Ensembl chr 2:256,609,787...256,724,641
|
|
G |
Adm |
adrenomedullin |
|
IEP |
associated with Diabetes Mellitus, Experimental;protein:decreased expression:cardiomyocyte |
RGD |
PMID:17355819 |
RGD:1625294 |
NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
|
|
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 chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
|
|
G |
Akap6 |
A-kinase anchoring protein 6 |
|
ISO |
|
RGD |
PMID:24812305 |
RGD:11251930 |
NCBI chr 6:73,553,111...73,991,992
Ensembl chr 6:73,553,210...73,990,534
|
|
G |
Akap9 |
A-kinase anchoring protein 9 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 |
|
NCBI chr 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
|
|
G |
Alpk3 |
alpha-kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:21441111 PMID:24033266 PMID:26846950 PMID:27106955 |
|
NCBI chr 1:142,882,997...142,931,940
Ensembl chr 1:142,883,040...142,931,940
|
|
G |
Ank2 |
ankyrin 2 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:17242276 PMID:22581653 PMID:25741868 PMID:28492532 |
|
NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
|
|
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 |
PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 PMID:25089522 PMID:25741868 PMID:27143260 PMID:28492532 PMID:28672880, PMID:19608031 |
RGD:5133276 |
NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
|
|
G |
Aph1b |
aph-1 homolog B, gamma secretase subunit |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:72,508,008...72,598,921
Ensembl chr 8:72,476,425...72,629,265
|
|
G |
Arfgap2 |
ADP-ribosylation factor GTPase activating protein 2 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:80,081,541...80,093,659
Ensembl chr 3:80,081,647...80,093,658
|
|
G |
Bag3 |
BAG cochaperone 3 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
|
|
G |
Bcl2 |
BCL2, apoptosis regulator |
|
ISO IEP |
protein:decreased expression:heart protein:decreased expression:cardiomyocyte |
RGD |
PMID:25209900, PMID:25820375 |
RGD:11558015, RGD:13792650 |
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
|
|
G |
Becn1 |
beclin 1 |
|
ISO |
protein:increased expression:heart |
RGD |
PMID:25209900 |
RGD:11558015 |
NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
|
|
G |
Ca12 |
carbonic anhydrase 12 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:72,405,770...72,461,425
Ensembl chr 8:72,405,748...72,460,240
|
|
G |
Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:20817017 PMID:22840528 PMID:23631430 PMID:23861362 PMID:24439875 PMID:25637381 PMID:25741868 PMID:26230511 PMID:26498160 PMID:27231019 PMID:28341588 PMID:28492532 PMID:30311386 |
|
NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
|
|
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 |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532, PMID:28614222 |
RGD:13513985 |
NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
|
|
G |
Calr3 |
calreticulin 3 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:17655857 PMID:23861362 PMID:25741868 PMID:28492532 |
|
NCBI chr16:19,097,391...19,124,062
Ensembl chr16:19,097,391...19,124,062
|
|
G |
Camta1 |
calmodulin binding transcription activator 1 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:30311386 |
|
NCBI chr 5:168,138,207...169,017,295
Ensembl chr 5:168,141,372...169,017,295
|
|
G |
Capn2 |
calpain 2 |
|
IEP |
protein:increased expression, activity:nucleus |
RGD |
PMID:25820375 |
RGD:13792650 |
NCBI chr13:100,878,649...100,928,811
Ensembl chr13:100,878,650...100,928,811
|
|
G |
Casp3 |
caspase 3 |
|
IEP |
associated with Diabetes Mellitus, Non-Insulin-Dependent |
RGD |
PMID:18192848 |
RGD:2293330 |
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
|
|
G |
Cav1 |
caveolin 1 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
|
|
G |
Cav3 |
caveolin 3 |
|
ISO ISS |
ClinVar Annotator: match by term: Hypertrophic myocardiopathy, UMLS MESH term: Hypertrophic Obstructive Cardiomyopathy |
ClinVar MouseDO |
|
|
NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
|
|
G |
Cd36 |
CD36 molecule |
|
IEP |
mRNA:increased expression:heart |
RGD |
PMID:19189074 |
RGD:2307222 |
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
|
|
G |
Celsr3 |
cadherin, EGF LAG seven-pass G-type receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
|
|
NCBI chr 8:117,620,293...117,648,034
Ensembl chr 8:117,620,317...117,648,028
|
|
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 PMID:22137083 PMID:23861362 PMID:24033266 PMID:25611685 PMID:25741868 PMID:26535225 PMID:27532257 PMID:28492532 PMID:28600387 PMID:28790153 |
|
NCBI chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418
|
|
G |
Cma1 |
chymase 1 |
susceptibility |
ISO |
DNA:snp:5' utr:g.-1903G>A rs1800875 (human) |
RGD |
PMID:8759823 |
RGD:5128572 |
NCBI chr15:34,601,037...34,603,819
Ensembl chr15:34,601,037...34,603,819
|
|
G |
Col5a2 |
collagen type V alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 PMID:30311386 |
|
NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
|
|
G |
Cox15 |
cytochrome c oxidase assembly homolog COX15 |
|
ISO |
|
RGD |
PMID:12474143 |
RGD:1598468 |
NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505
|
|
G |
Cryab |
crystallin, alpha B |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:1560021 PMID:16483541 PMID:16793013 PMID:17116488 PMID:20171888 PMID:21920752 PMID:22106715 PMID:22995991 PMID:23194663 PMID:23299917 PMID:24033266 PMID:25073507 PMID:25208129 PMID:25741868 PMID:26694549 PMID:26961874 PMID:28492532 |
|
NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
|
|
G |
Crybb2 |
crystallin, beta B2 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:30311386 |
|
NCBI chr12:49,577,580...49,588,555
Ensembl chr12:49,578,633...49,588,555
|
|
G |
Csrp3 |
cysteine and glycine rich protein 3 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic |
ClinVar |
PMID:9039266 PMID:12507422 PMID:12642359 PMID:14567970 PMID:15781201 PMID:16352453 PMID:17084280 PMID:18505755 PMID:19035361 PMID:20044516 PMID:20474083 PMID:21425739 PMID:22337857 PMID:22429680 PMID:23299917 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24082139 PMID:25351510 PMID:25741868 PMID:26656175 PMID:27353086 PMID:27532257 PMID:28492532 PMID:28790153 PMID:30012424 PMID:30048712, PMID:12642359 |
RGD:1598499 |
NCBI chr 1:104,147,205...104,166,389
Ensembl chr 1:104,147,206...104,166,367
|
|
G |
Ctf1 |
cardiotrophin 1 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
|
|
G |
Ctnnb1 |
catenin beta 1 |
treatment |
ISO |
protein:increased phosphorylation:myocyte: |
RGD |
PMID:14993121 |
RGD:1598718 |
NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
|
|
G |
Ctsl |
cathepsin L |
|
ISO |
|
RGD |
PMID:19096818 |
RGD:2315555 |
NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
|
|
G |
Ddb2 |
damage specific DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:80,030,437...80,052,984
Ensembl chr 3:80,030,437...80,052,953
|
|
G |
Des |
desmin |
|
ISO |
|
RGD |
PMID:10591032 |
RGD:13525010 |
NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
|
|
G |
Dmd |
dystrophin |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:19937601 PMID:19959795 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr X:51,149,358...53,519,271
Ensembl chr X:51,286,737...53,519,259
|
|
G |
Dnaaf3 |
dynein, axonemal, assembly factor 3 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
|
|
G |
Dsc2 |
desmocollin 2 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:20031617 PMID:20152563 PMID:20400443 PMID:20716751 PMID:20857253 PMID:21606396 PMID:21636032 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26498160 PMID:27930701 PMID:28492532 |
|
NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
|
|
G |
Dsg2 |
desmoglein 2 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:20400443 PMID:21220045 PMID:23861362 PMID:24033266 PMID:24070718 PMID:24125834 PMID:25213555 PMID:25741868 PMID:27055156 PMID:28492532 PMID:28600387 PMID:30311386 |
|
NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
|
|
G |
Dsp |
desmoplakin |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic |
ClinVar |
PMID:18632414 PMID:19863551 PMID:21062920 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21859740 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24125834 PMID:24503780 PMID:24825141 PMID:25741868 PMID:28492532 PMID:30311386, PMID:8944586 |
RGD:1580892 |
NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
|
|
G |
Dtna |
dystrobrevin, alpha |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:23861362 PMID:25741868 |
|
NCBI chr18:14,544,725...14,671,514
Ensembl chr18:14,471,213...14,657,332
|
|
G |
Edn1 |
endothelin 1 |
|
IEP |
associated with Diabetes Mellitus, Experimental; protein:increased secretion:serum (rat) |
RGD |
PMID:19000375 |
RGD:2302065 |
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
|
|
G |
Eln |
elastin |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:30311386 |
|
NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
|
|
G |
Emilin2 |
elastin microfibril interfacer 2 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:119,594,049...119,653,675
Ensembl chr 9:119,594,629...119,653,255
|
|
G |
Etfdh |
electron transfer flavoprotein dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:178,367,547...178,389,641
Ensembl chr 2:178,367,549...178,389,608
|
|
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 chr 1:23,237,617...23,611,580
Ensembl chr 1:23,409,408...23,610,164
|
|
G |
Fasn |
fatty acid synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26670611 |
|
NCBI chr10:109,987,735...110,005,901
Ensembl chr10:109,987,735...110,005,901
|
|
G |
Fbxl22 |
F-box and leucine-rich repeat protein 22 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:72,198,043...72,204,730
Ensembl chr 8:72,198,043...72,204,730
|
|
G |
Fhl1 |
four and a half LIM domains 1 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic |
ClinVar |
PMID:11583900 |
RGD:1580798 |
NCBI chr X:159,112,516...159,172,528
Ensembl chr X:159,112,880...159,172,524
|
|
G |
Fhod3 |
formin homology 2 domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
|
|
NCBI chr18:16,650,786...17,332,209
Ensembl chr18:16,650,806...17,332,210
|
|
G |
Fktn |
fukutin |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:18414213 PMID:22037554 PMID:25741868 PMID:28492532 |
|
NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
|
|
G |
Flnb |
filamin B |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:30311386 |
|
NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
|
|
G |
Flnc |
filamin C |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:21520333 PMID:25741868 PMID:26436962 PMID:26467025 PMID:28492532 PMID:29858533 PMID:30311386 |
|
NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
|
|
G |
Fxn |
frataxin |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:15936968 PMID:25741868 |
|
NCBI chr 1:242,123,975...242,152,834
Ensembl chr 1:242,123,975...242,152,834
|
|
G |
Gaa |
alpha glucosidase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
CTD ClinVar |
PMID:11328962 PMID:22644586 PMID:25741868 PMID:28492532 |
|
NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
|
|
G |
Gja5 |
gap junction protein, alpha 5 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
|
|
NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
|
|
G |
Gla |
galactosidase, alpha |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:7504405 PMID:7911050 PMID:8395937 PMID:8411052 PMID:9452111 PMID:10666480 PMID:11531969 PMID:11668641 PMID:11914245 PMID:14635108 PMID:14680977 PMID:15091117 PMID:15702404 PMID:15712228 PMID:15806320 PMID:16232095 PMID:16754800 PMID:16773563 PMID:17555407 PMID:18057066 PMID:18154965 PMID:18297328 PMID:18849176 PMID:19373884 PMID:20110537 PMID:20122163 PMID:20360539 PMID:20464614 PMID:21062768 PMID:21092187 PMID:21229318 PMID:21517827 PMID:21598360 PMID:21683120 PMID:21972175 PMID:22226368 PMID:22682330 PMID:23219219 PMID:23332617 PMID:23393592 PMID:23430502 PMID:23568732 PMID:23677059 PMID:23818648 PMID:23935525 PMID:24033266 PMID:24829596 PMID:25078086 PMID:25468652 PMID:25611685 PMID:25637381 PMID:25741868 PMID:26047621 PMID:26415523 PMID:27532257 PMID:27832731 PMID:27979989 PMID:28492532 PMID:29018006 |
|
NCBI chr X:105,405,915...105,417,331
Ensembl chr X:105,406,792...105,417,323
|
|
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 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24715918 PMID:25741868 PMID:25998140 PMID:28492532 PMID:28837624 |
|
NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
|
|
G |
Gpr149 |
G protein-coupled receptor 149 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
|
|
NCBI chr 2:152,838,836...152,912,027
Ensembl chr 2:152,839,117...152,911,553
|
|
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 PMID:26467025 PMID:27173043 PMID:27659478 PMID:28104484 PMID:28182231 PMID:28254189 PMID:28492532 |
|
NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
|
|
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 8:72,029,550...72,198,363
Ensembl chr 8:72,029,489...72,198,358
|
|
G |
Hey2 |
hes-related family bHLH transcription factor with YRPW motif 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20001863 |
|
NCBI chr 1:29,191,170...29,201,257
Ensembl chr 1:29,191,192...29,201,531
|
|
G |
Hspb1 |
heat shock protein family B (small) member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9527842 |
|
NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
|
|
G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9527842 |
|
NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
|
|
G |
Htr2b |
5-hydroxytryptamine receptor 2B |
|
ISS |
|
MouseDO |
|
|
NCBI chr 9:93,112,781...93,130,135
Ensembl chr 9:93,112,805...93,125,014
|
|
G |
Icam1 |
intercellular adhesion molecule 1 |
|
IEP |
associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle (rat) |
RGD |
PMID:20601373 |
RGD:4145536 |
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
|
|
G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27469509 |
|
NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
|
|
G |
Igf1 |
insulin-like growth factor 1 |
severity |
ISO |
|
RGD |
PMID:12135130 |
RGD:1598422 |
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
|
|
G |
Igf1r |
insulin-like growth factor 1 receptor |
|
ISO |
associated with Diabetes Mellitus;protein:decreased expression:placenta |
RGD |
PMID:16750336 |
RGD:2311505 |
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
|
|
G |
Ins2 |
insulin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8660453 |
|
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
|
|
G |
Insr |
insulin receptor |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:30311386 |
|
NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
|
|
G |
Jph2 |
junctophilin 2 |
disease_progression |
ISO IEP |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy protein:decreased expression:heart |
ClinVar |
PMID:17476457 PMID:22584458 PMID:23757202 PMID:23834499 PMID:23861362 PMID:23973696 PMID:24033266 PMID:25333069 PMID:25741868 PMID:27532831 PMID:28087566 PMID:28254189 PMID:28393127 PMID:28492532 PMID:28771489, PMID:15541368, PMID:20576937 |
RGD:1580652, RGD:6480270 |
NCBI chr 3:159,709,998...159,776,536
Ensembl chr 3:159,712,325...159,775,643
|
|
G |
Jup |
junction plakoglobin |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
|
|
G |
Kat8 |
lysine acetyltransferase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27768893 |
|
NCBI chr 1:199,360,645...199,372,925
Ensembl chr 1:199,360,645...199,372,923
|
|
G |
Kcne1 |
potassium voltage-gated channel subfamily E regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
|
|
NCBI chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
|
|
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 PMID:26332594 PMID:26467025 PMID:28492532 |
|
NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
|
|
G |
Kcnj2 |
potassium inwardly-rectifying channel, subfamily J, member 2 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:25741868 |
|
NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
|
|
G |
Kcnj5 |
potassium inwardly-rectifying channel, subfamily J, member 5 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
|
|
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 PMID:22840528 PMID:23632791 PMID:24700710 PMID:25741868 PMID:28492532 |
|
NCBI chr 4:176,783,287...176,789,143
Ensembl chr 4:176,782,498...176,789,304
|
|
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 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26332594 PMID:28492532 PMID:28794082 PMID:29197658 |
|
NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
|
|
G |
Klf1 |
Kruppel like factor 1 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:30311386 |
|
NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
|
|
G |
Klhl41 |
kelch-like family member 41 |
|
ISO |
|
RGD |
PMID:11583900 |
RGD:1580798 |
NCBI chr 3:55,910,177...55,923,303
Ensembl chr 3:55,910,177...55,923,303
|
|
G |
Lactb |
lactamase, beta |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:72,750,174...72,766,307
Ensembl chr 8:72,750,171...72,766,389
|
|
G |
Lama4 |
laminin subunit alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
|
|
G |
Lamp2 |
lysosomal-associated membrane protein 2 |
|
ISO IMP |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy in hemizygote mutant male (LAMP2y/-) ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic |
ClinVar |
PMID:15673802 PMID:18282207 PMID:19533775 PMID:21415759 PMID:24033266 PMID:24503780 PMID:25458169 PMID:25741868 PMID:26748608 PMID:27532257 PMID:28492532, PMID:16144992, PMID:29720683, PMID:15673802 |
RGD:1580822, RGD:13703117, RGD:1580826 |
NCBI chr X:124,722,628...124,766,079
Ensembl chr X:124,722,628...124,766,044
|
|
G |
Lamp2em1 |
lysosomal-associated membrane protein 2; TALEN induced mutant1 |
|
IMP |
in hemizygote mutant male (LAMP2y/-) |
RGD |
PMID:29720683 |
RGD:13703117 |
|
|
G |
Ldb3 |
LIM domain binding 3 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:17235623 PMID:17394203 PMID:17438622 PMID:23299917 PMID:24033266 PMID:25041374 PMID:25616123 PMID:25741868 PMID:27532257 PMID:27561770 PMID:27896284 PMID:28492532 |
|
NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
|
|
G |
Lmna |
lamin A/C |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:10612827 PMID:23183350 PMID:23328570 PMID:24033266 PMID:24503780 PMID:24768879 PMID:25741868 PMID:26183555 PMID:26752647 PMID:27532257 PMID:27813223 PMID:28492532 PMID:28531892 PMID:28663758 |
|
NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
|
|
G |
Lpin2 |
lipin 2 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:119,517,101...119,591,533
Ensembl chr 9:119,517,101...119,591,533
|
|
G |
Lrp4 |
LDL receptor related protein 4 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
|
|
G |
Madd |
MAP-kinase activating death domain |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:79,960,301...80,003,023
Ensembl chr 3:79,960,301...80,003,032
|
|
G |
Map1lc3a |
microtubule-associated protein 1 light chain 3 alpha |
|
ISO |
protein:increased expression:heart |
RGD |
PMID:25209900 |
RGD:11558015 |
NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
|
|
G |
Map2k2 |
mitogen activated protein kinase kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
|
|
G |
Masp1 |
mannan-binding lectin serine peptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
|
|
NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
|
|
G |
Mir208a |
microRNA 208a |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr15:33,613,451...33,613,533
|
|
G |
Mir208b |
microRNA 208b |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr15:33,639,510...33,639,621
Ensembl chr15:33,639,510...33,639,621
|
|
G |
Mir451a |
microRNA 451a |
|
ISO |
RNA:decreased expression:heart |
RGD |
PMID:25209900 |
RGD:11558015 |
NCBI chr10:65,291,204...65,291,275
Ensembl chr10:65,291,204...65,291,275
|
|
G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
|
RGD |
PMID:12952838 |
RGD:1582538 |
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
|
|
G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:18585501 |
RGD:5130889 |
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:18585501 |
RGD:5130889 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
|
|
G |
Mtpn |
myotrophin |
|
ISS |
|
MouseDO |
|
|
NCBI chr 4:63,012,009...63,039,422
Ensembl chr 4:63,012,011...63,039,422
|
|
G |
Mybpc3 |
myosin binding protein C3 |
|
ISO |
DNA:mutations: :multiple ClinVar Annotator: match by term: Hypertrophic cardiomyopathy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic DNA:polymorphism:exon:18443A>G (human) |
ClinVar CTD |
PMID:1853307 PMID:2073894 PMID:2561168 PMID:2732257 PMID:2943217 PMID:3140859 PMID:7493025 PMID:7493026 PMID:7786104 PMID:9048664 PMID:9218526 PMID:9241277 PMID:9503187 PMID:9541100 PMID:9541104 PMID:9541115 PMID:9562578 PMID:9631872 PMID:9742053 PMID:10424815 PMID:10521296 PMID:10610770 PMID:10736283 PMID:11499718 PMID:11499719 PMID:11748309 PMID:11815426 PMID:11835941 PMID:11847170 PMID:12110947 PMID:12117842 PMID:12202917 PMID:12386147 PMID:12403824 PMID:12566107 PMID:12601548 PMID:12628722 PMID:12707239 PMID:12787675 PMID:12788380 PMID:12818575 PMID:12951062 PMID:12974739 PMID:14563344 PMID:14613868 PMID:14718142 PMID:15010274 PMID:15114369 PMID:15115610 PMID:15166115 PMID:15519027 PMID:15563892 PMID:15671604 PMID:15769446 PMID:15823648 PMID:15936968 PMID:16004897 PMID:16061003 PMID:16181148 PMID:16199542 PMID:16267253 PMID:16335287 PMID:16352453 PMID:16566405 PMID:16651346 PMID:16679492 PMID:16715312 PMID:16754800 PMID:16831826 PMID:16858239 PMID:17081393 PMID:17386157 PMID:17394878 PMID:17521870 PMID:17536430 PMID:17560888 PMID:17612681 PMID:17643520 PMID:17655857 PMID:17908752 PMID:17937428 PMID:18258667 PMID:18273486 PMID:18337725 PMID:18374358 PMID:18400036 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18467358 PMID:18533079 PMID:18713777 PMID:18761664 PMID:18803133 PMID:18809796 PMID:18926831 PMID:18929575 PMID:18957093 PMID:19035361 PMID:19134269 PMID:19150014 PMID:19151713 PMID:19273718 PMID:19293840 PMID:19356534 PMID:19574547 PMID:19590044 PMID:19632136 PMID:19659763 PMID:19666645 PMID:19763152 PMID:19808356 PMID:19858127 PMID:19996403 PMID:20019025 PMID:20031602 PMID:20031618 PMID:20031619 PMID:20045868 PMID:20051424 PMID:20128375 PMID:20159828 PMID:20173211 PMID:20201939 PMID:20215591 PMID:20298698 PMID:20307669 PMID:20359594 PMID:20378854 PMID:20414521 PMID:20433692 PMID:20435227 PMID:20439259 PMID:20458009 PMID:20474083 PMID:20505798 PMID:20513729 PMID:20530761 PMID:20542340 PMID:20605413 PMID:20624503 PMID:20641121 PMID:20738943 PMID:20800588 PMID:20818890 PMID:20864638 PMID:20975235 PMID:21088121 PMID:21165360 PMID:21185001 PMID:21239446 PMID:21252143 PMID:21297165 PMID:21302287 PMID:21310275 PMID:21415409 PMID:21424860 PMID:21425739 PMID:21472310 PMID:21488259 PMID:21488307 PMID:21499742 PMID:21511876 PMID:21520333 PMID:21551322 PMID:21638988 PMID:21750094 PMID:21799269 PMID:21817903 PMID:21832025 PMID:21832052 PMID:21835286 PMID:21835320 PMID:21839045 PMID:21896538 PMID:21915287 PMID:21939669 PMID:21943931 PMID:21959974 PMID:21985754 PMID:22057632 PMID:22076249 PMID:22112859 PMID:22115648 PMID:22122802 PMID:22177269 PMID:22178992 PMID:22194935 PMID:22267749 PMID:22314326 PMID:22337857 PMID:22361390 PMID:22386539 PMID:22406018 PMID:22429680 PMID:22455086 PMID:22462493 PMID:22464770 PMID:22555271 PMID:22560514 PMID:22563033 PMID:22569109 PMID:22574137 PMID:22589294 PMID:22763267 PMID:22765922 PMID:22857948 PMID:22907696 PMID:22958901 PMID:22995991 PMID:23054336 PMID:23074333 PMID:23140321 PMID:23164068 PMID:23197398 PMID:23217326 PMID:23233322 PMID:23283745 PMID:23299917 PMID:23348723 PMID:23349452 PMID:23396983 PMID:23418287 PMID:23508784 PMID:23527136 PMID:23534983 PMID:23549607 PMID:23642604 PMID:23674513 PMID:23690394 PMID:23711808 PMID:23782526 PMID:23785128 PMID:23816408 PMID:23820649 PMID:23840593 PMID:23861362 PMID:23980194 PMID:24033266 PMID:24055113 PMID:24062880 PMID:24083979 PMID:24093860 PMID:24111713 PMID:24113344 PMID:24119082 PMID:24327208 PMID:24447051 PMID:24503780 PMID:24510615 PMID:24602869 PMID:24621997 PMID:24704860 PMID:24721642 PMID:24774285 PMID:24774606 PMID:24793961 PMID:24795128 PMID:24810389 PMID:24835277 PMID:24865491 PMID:25031304 PMID:25034069 PMID:25037680 PMID:25058872 PMID:25078086 PMID:25086479 PMID:25127965 PMID:25132132 PMID:25163546 PMID:25210889 PMID:25214167 PMID:25228707 PMID:25262865 PMID:25281569 PMID:25335496 PMID:25342278 PMID:25351510 PMID:25377941 PMID:25443708 PMID:25447171 PMID:25512492 PMID:25524337 PMID:25525159 PMID:25543971 PMID:25558701 PMID:25566086 PMID:25569433 PMID:25583989 PMID:25611685 PMID:25631583 PMID:25637381 PMID:25740977 PMID:25741868 PMID:25741869 PMID:25849606 PMID:25856671 PMID:25971843 PMID:26090888 PMID:26163040 PMID:26178432 PMID:26189708 PMID:26267065 PMID:26332198 PMID:26332594 PMID:26358504 PMID:26383716 PMID:26458567 PMID:26467025 PMID:26497160 PMID:26654849 PMID:26656175 PMID:26671970 PMID:26688216 PMID:26743238 PMID:26822237 PMID:26899768 PMID:26914223 PMID:26936621 PMID:27000522 PMID:27066507 PMID:27096365 PMID:27108529 PMID:27112610 PMID:27153395 PMID:27173948 PMID:27194543 PMID:27267291 PMID:27332903 PMID:27391121 PMID:27418595 PMID:27435932 PMID:27476098 PMID:27483260 PMID:27532257 PMID:27561770 PMID:27576561 PMID:27590665 PMID:27600940 PMID:27618852 PMID:27620334 PMID:27650965 PMID:27688314 PMID:27737317 PMID:27831900 PMID:27834932 PMID:27841901 PMID:27854218 PMID:27885498 PMID:27896284 PMID:27930701 PMID:27994558 PMID:28024942 PMID:28029522 PMID:28074886 PMID:28087566 PMID:28138913 PMID:28166282 PMID:28166811 PMID:28193612 PMID:28202948 PMID:28214152 PMID:28241245 PMID:28323875 PMID:28356264 PMID:28408708 PMID:28416588 PMID:28420666 PMID:28436997 PMID:28450932 PMID:28492532 PMID:28498465 PMID:28518168 PMID:28538763 PMID:28611029 PMID:28614222 PMID:28615295 PMID:28640247 PMID:28658286 PMID:28679633 PMID:28749478 PMID:28750076 PMID:28771489 PMID:28790153 PMID:28794111 PMID:28797094 PMID:28798025 PMID:28807990 PMID:28824454 PMID:28840316 PMID:28843747 PMID:28855170 PMID:28916354 PMID:28971120 PMID:29029073 PMID:29030401 PMID:29032884 PMID:29121657 PMID:29212898 PMID:29247119 PMID:29255176 PMID:29367541 PMID:29398688 PMID:29447731 PMID:29451820 PMID:29493010 PMID:29497013 PMID:29524613 PMID:29540445 PMID:29540472 PMID:29555771 PMID:29661763 PMID:29663722 PMID:29709087 PMID:29710196 PMID:29875314 PMID:29875424 PMID:29907873 PMID:29988065 PMID:30025578 PMID:30165862 PMID:30188508 PMID:30206291 PMID:30282064 PMID:30297972 PMID:30311386 PMID:30645170 PMID:30762279 PMID:30790116 PMID:30847666 PMID:30871747 PMID:30896616 PMID:30959811 PMID:30972196 PMID:30984009 PMID:30985088 PMID:31006259 PMID:31333075 PMID:31568572 PMID:31730716 PMID:32860008 PMID:397516074, PMID:15519027, PMID:15737656 |
RGD:1580235, RGD:1580233 |
NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
|
|
G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22000973 |
|
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
|
|
G |
Myh6 |
myosin heavy chain 6 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic ClinVar Annotator: match by term: Hypertrophic cardiomyopathy CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:15998695 PMID:20656787 PMID:22011241 PMID:23861362 PMID:24033266 PMID:24082139 PMID:25741868 PMID:27600940 PMID:27789736 PMID:28416588 PMID:28492532 PMID:29741611 PMID:30311386 |
|
NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
|
|
G |
Myh7 |
myosin heavy chain 7 |
severity |
ISO |
DNA:missense mutations: :multiple ClinVar Annotator: match by term: Hypertrophic cardiomyopathy CTD Direct Evidence: marker/mechanism DNA:missense mutation: :p.R719W (human) ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic DNA:deletion, missense mutations: :multiple |
ClinVar CTD |
PMID:1361491 PMID:1423936 PMID:1430197 PMID:1472461 PMID:1552912 PMID:1634614 PMID:1638703 PMID:1739523 PMID:1944483 PMID:1975517 PMID:1975599 PMID:2062450 PMID:2136805 PMID:2249844 PMID:2411171 PMID:2753225 PMID:2790153 PMID:3203908 PMID:4104682 PMID:7532257 PMID:7581410 PMID:7648684 PMID:7662452 PMID:7731997 PMID:7786104 PMID:7788887 PMID:7789380 PMID:7796500 PMID:7848420 PMID:7848441 PMID:7874131 PMID:7883988 PMID:7909436 PMID:7994801 PMID:8186698 PMID:8250038 PMID:8254035 PMID:8268932 PMID:8281650 PMID:8282798 PMID:8335820 PMID:8343162 PMID:8435239 PMID:8483915 PMID:8490051 PMID:8514894 PMID:8533830 PMID:8614836 PMID:8655135 PMID:8788376 PMID:8898372 PMID:8981935 PMID:9001794 PMID:9058851 PMID:9062359 PMID:9105042 PMID:9140824 PMID:9140839 PMID:9154300 PMID:9172070 PMID:9271024 PMID:9476679 PMID:9541509 PMID:9544842 PMID:9822100 PMID:9826622 PMID:9829907 PMID:9835779 PMID:9874056 PMID:9884344 PMID:10024460 PMID:10065021 PMID:10086390 PMID:10328076 PMID:10424815 PMID:10521296 PMID:10563488 PMID:10567705 PMID:10606622 PMID:10662815 PMID:10679957 PMID:10725281 PMID:10750581 PMID:10764406 PMID:10862102 PMID:10874840 PMID:10882745 PMID:10900182 PMID:10957787 PMID:11106718 PMID:11113006 PMID:11133230 PMID:11186938 PMID:11196015 PMID:11227787 PMID:11377367 PMID:11424919 PMID:11433818 PMID:11447480 PMID:11498078 PMID:11723028 PMID:11733062 PMID:11748309 PMID:11861410 PMID:11861413 PMID:11904418 PMID:11968089 PMID:12081993 PMID:12084606 PMID:12117842 PMID:12379228 PMID:12473556 PMID:12566107 PMID:12590187 PMID:12601548 PMID:12707239 PMID:12749056 PMID:12818575 PMID:12820698 PMID:12881443 PMID:12951062 PMID:12953063 PMID:12974739 PMID:12975413 PMID:13732753 PMID:14520662 PMID:14656445 PMID:14659406 PMID:15000344 PMID:15001446 PMID:15008060 PMID:15010274 PMID:15114369 PMID:15136674 PMID:15184651 PMID:15322983 PMID:15358028 PMID:15483641 PMID:15519027 PMID:15528230 PMID:15550524 PMID:15556047 PMID:15563892 PMID:15699387 PMID:15757018 PMID:15769782 PMID:15856146 PMID:15858117 PMID:15940186 PMID:16115294 PMID:16137545 PMID:16199542 PMID:16253604 PMID:16267253 PMID:16335287 PMID:16352453 PMID:16504640 PMID:16630449 PMID:16630450 PMID:16650083 PMID:16684601 PMID:16715312 PMID:16754800 PMID:16858239 PMID:16918501 PMID:16938236 PMID:16983074 PMID:17019812 PMID:17095604 PMID:17097032 PMID:17118657 PMID:17125710 PMID:17180650 PMID:17192269 PMID:17336526 PMID:17351073 PMID:17372140 PMID:17383184 PMID:17438619 PMID:17476457 PMID:17495353 PMID:17502101 PMID:17548557 PMID:17560888 PMID:17599605 PMID:17612745 PMID:17703256 PMID:17947214 PMID:17987111 PMID:18020371 PMID:18029407 PMID:18076673 PMID:18175163 PMID:18258667 PMID:18374998 PMID:18380764 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18411228 PMID:18414213 PMID:18506004 PMID:18519860 PMID:18533079 PMID:18555187 PMID:18565996 PMID:18660445 PMID:18761664 PMID:18953637 PMID:19035361 PMID:19134269 PMID:19138847 PMID:19149795 PMID:19150014 PMID:19293840 PMID:19336582 PMID:19412328 PMID:19477645 PMID:19586842 PMID:19645038 PMID:19651039 PMID:19659763 PMID:19666645 PMID:19808347 PMID:19808356 PMID:19843903 PMID:19854198 PMID:19864899 PMID:19880069 PMID:19913502 PMID:20031602 PMID:20031618 PMID:20031619 PMID:20038417 PMID:20075948 PMID:20086309 PMID:20215591 PMID:20298698 PMID:20309391 PMID:20350521 PMID:20359594 PMID:20376763 PMID:20378854 PMID:20394946 PMID:20428263 PMID:20439259 PMID:20474083 PMID:20513729 PMID:20530761 PMID:20573160 PMID:20594303 PMID:20624503 PMID:20641121 PMID:20646679 PMID:20664766 PMID:20733148 PMID:20738943 PMID:20800588 PMID:20811150 PMID:20817590 PMID:20818890 PMID:20819418 PMID:20865685 PMID:20952769 PMID:20965760 PMID:20975235 PMID:20981092 PMID:21127202 PMID:21185001 PMID:21216834 PMID:21239280 PMID:21239446 PMID:21252143 PMID:21302287 PMID:21310275 PMID:21425739 PMID:21426742 PMID:21482996 PMID:21483645 PMID:21499742 PMID:21511876 PMID:21520333 PMID:21551322 PMID:21576279 PMID:21642240 PMID:21674835 PMID:21750094 PMID:21769673 PMID:21799269 PMID:21811976 PMID:21817903 PMID:21832052 PMID:21835320 PMID:21839045 PMID:21896538 PMID:21943931 PMID:21958740 PMID:21959974 PMID:22112859 PMID:22155079 PMID:22177269 PMID:22213221 PMID:22260945 PMID:22267749 PMID:22286171 PMID:22337857 PMID:22429680 PMID:22455086 PMID:22464770 PMID:22555271 PMID:22735528 PMID:22763267 PMID:22765922 PMID:22784669 PMID:22811549 PMID:22857948 PMID:22859017 PMID:22918376 PMID:22949430 PMID:22958901 PMID:23054336 PMID:23074333 PMID:23140321 PMID:23153285 PMID:23197161 PMID:23197398 PMID:23233322 PMID:23271734 PMID:23281406 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23313350 PMID:23318932 PMID:23349452 PMID:23396983 PMID:23403236 PMID:23408646 PMID:23426552 PMID:23508784 PMID:23549607 PMID:23580644 PMID:23674513 PMID:23690394 PMID:23707328 PMID:23711808 PMID:23712688 PMID:23751935 PMID:23782526 PMID:23785128 PMID:23794396 PMID:23798412 PMID:23816408 PMID:23861362 PMID:24033266 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24119082 PMID:24183960 PMID:24215330 PMID:24268868 PMID:24298987 PMID:24344137 PMID:24498601 PMID:24503780 PMID:24510615 PMID:24558114 PMID:24621997 PMID:24664454 PMID:24691700 PMID:24704860 PMID:24721642 PMID:24749114 PMID:24793961 PMID:24829265 PMID:24835277 PMID:24865491 PMID:24888384 PMID:24928957 PMID:25031304 PMID:25078086 PMID:25086479 PMID:25125180 PMID:25132132 PMID:25163446 PMID:25163546 PMID:25214167 PMID:25228707 PMID:25239116 PMID:25326635 PMID:25326637 PMID:25327599 PMID:25332820 PMID:25342278 PMID:25346696 PMID:25351510 PMID:25422285 PMID:25447171 PMID:25447691 PMID:25448463 PMID:25467552 PMID:25524337 PMID:25543971 PMID:25558701 PMID:25569433 PMID:25576864 PMID:25611685 PMID:25637381 PMID:25649125 PMID:25666907 PMID:25714468 PMID:25741868 PMID:25892673 PMID:25931334 PMID:25935763 PMID:25937279 PMID:25937619 PMID:25961035 PMID:25979592 PMID:26025024 PMID:26084686 PMID:26162782 PMID:26187847 PMID:26199943 PMID:26220970 PMID:26223264 PMID:26246073 PMID:26271555 PMID:26332594 PMID:26383716 PMID:26406308 PMID:26446785 PMID:26458567 PMID:26467025 PMID:26468400 PMID:26497160 PMID:26573135 PMID:26627873 PMID:26656175 PMID:26688388 PMID:26743238 PMID:26782017 PMID:26846766 PMID:26899768 PMID:26912705 PMID:26914223 PMID:26936621 PMID:26969127 PMID:26969327 PMID:27000522 PMID:27066506 PMID:27066507 PMID:27082122 PMID:27153395 PMID:27161364 PMID:27161882 PMID:27224906 PMID:27247418 PMID:27282841 PMID:27352967 PMID:27387980 PMID:27460395 PMID:27483260 PMID:27519903 PMID:27532257 PMID:27574918 PMID:27576561 PMID:27600940 PMID:27662471 PMID:27688314 PMID:27707468 PMID:27737317 PMID:27788187 PMID:27831900 PMID:27841901 PMID:27854218 PMID:27884173 PMID:27885498 PMID:27930701 PMID:27965028 PMID:27974200 PMID:28005231 PMID:28045975 PMID:28087426 PMID:28125727 PMID:28138913 PMID:28152038 PMID:28193612 PMID:28202948 PMID:28241245 PMID:28246639 PMID:28265379 PMID:28296734 PMID:28323875 PMID:28356264 PMID:28396031 PMID:28408708 PMID:28416588 PMID:28420666 PMID:28449774 PMID:28481356 PMID:28492532 PMID:28498465 PMID:28518168 PMID:28566242 PMID:28588093 PMID:28606303 PMID:28611029 PMID:28615295 PMID:28640247 PMID:28642161 PMID:28687478 PMID:28699631 PMID:28704380 PMID:28750076 PMID:28771489 PMID:28777849 PMID:28790153 PMID:28794111 PMID:28798025 PMID:28807990 PMID:28815794 PMID:28855170 PMID:28878402 PMID:28971120 PMID:28973424 PMID:28986452 PMID:29029073 PMID:29093449 PMID:29101517 PMID:29121657 PMID:29169752 PMID:29178653 PMID:29212898 PMID:29255176 PMID:29300372 PMID:29343710 PMID:29343803 PMID:29447731 PMID:29497013 PMID:29540472 PMID:29661763 PMID:29666183 PMID:29686627 PMID:29709087 PMID:29710196 PMID:29741611 PMID:29773157 PMID:29867217 PMID:29875424 PMID:29892087 PMID:29907873 PMID:29915097 PMID:29970176 PMID:29997562 PMID:30022097 PMID:30105547 PMID:30165862 PMID:30206291 PMID:30217213 PMID:30275503 PMID:30297972 PMID:30311386 PMID:30384889 PMID:30511546 PMID:30623132 PMID:30674652 PMID:30696458 PMID:30775854 PMID:30868567 PMID:30871747 PMID:30972196 PMID:31110529 PMID:31112422 PMID:31130376 PMID:31199839 PMID:31333075 PMID:31568572 PMID:31638223, PMID:15856146, PMID:9154300, PMID:15358028 |
RGD:1580926, RGD:11065270, RGD:1580929 |
NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
|
|
G |
Myl2 |
myosin light chain 2 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic ClinVar Annotator: match by term: Hypertrophic cardiomyopathy CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:08673105 PMID:9527842 PMID:09535554 PMID:9724616 PMID:10948063 PMID:11102452 PMID:11748309 PMID:12404107 PMID:12668451 PMID:12707239 PMID:12818575 PMID:14594949 PMID:15483641 PMID:16076902 PMID:16751284 PMID:16837010 PMID:17606808 PMID:18506004 PMID:18533079 PMID:18929571 PMID:19150977 PMID:20173211 PMID:20855589 PMID:21310275 PMID:21723297 PMID:21835320 PMID:21896538 PMID:22091967 PMID:22797899 PMID:22958901 PMID:23197161 PMID:23283745 PMID:23299917 PMID:23343568 PMID:23365102 PMID:23396983 PMID:23727233 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24111713 PMID:24793961 PMID:25324513 PMID:25333069 PMID:25351510 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25741868 PMID:26116789 PMID:26187847 PMID:26497160 PMID:26664906 PMID:26914223 PMID:27153395 PMID:27435932 PMID:27483260 PMID:27532257 PMID:27600940 PMID:28223422 PMID:28492532 PMID:28771489 PMID:29398688 PMID:29452157 PMID:29710196 PMID:30403391 PMID:30430732 |
|
NCBI chr12:39,951,863...39,959,065
Ensembl chr12:39,951,987...39,958,239
|
|
G |
Myl3 |
myosin light chain 3 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:6211078 PMID:8673105 PMID:11174330 PMID:12021217 PMID:16267253 PMID:16754800 PMID:17142342 PMID:18403758 PMID:18409188 PMID:20031618 PMID:20641121 PMID:21239446 PMID:21823217 PMID:21885653 PMID:22131351 PMID:22957257 PMID:22958901 PMID:23054336 PMID:23283745 PMID:23396983 PMID:23426552 PMID:23549607 PMID:23594557 PMID:23748425 PMID:24033266 PMID:24111713 PMID:24510615 PMID:24911555 PMID:25132132 PMID:25326637 PMID:25342278 PMID:25351510 PMID:25637381 PMID:25741868 PMID:25856671 PMID:25910212 PMID:26385864 PMID:26443374 PMID:26633542 PMID:27153395 PMID:27483260 PMID:27532257 PMID:27574918 PMID:27831900 PMID:28193612 PMID:28241245 PMID:28356264 PMID:28371863 PMID:28492532 PMID:28518168 PMID:28615295 PMID:28658286 PMID:28771489 PMID:28790153 PMID:28971120 PMID:29121657 PMID:29420653 PMID:29669825 PMID:29709087 PMID:29710196 PMID:29914921 PMID:30297972 PMID:30706179 PMID:31110529 PMID:31199839 PMID:31447099 PMID:31513939 PMID:32380161 PMID:32492895 |
|
NCBI chr 8:119,030,852...119,036,996
Ensembl chr 8:119,030,875...119,036,996
|
|
G |
Myl4 |
myosin, light chain 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9527842 |
|
NCBI chr10:92,628,356...92,638,100
Ensembl chr10:92,628,356...92,638,100
|
|
G |
Myl7 |
myosin light chain 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9527842 |
|
NCBI chr14:86,144,770...86,147,075
Ensembl chr14:86,143,862...86,147,553
|
|
G |
Mylk2 |
myosin light chain kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:148,386,185...148,397,851
Ensembl chr 3:148,386,189...148,399,501
|
|
G |
Myom1 |
myomesin 1 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26036949 PMID:26656175 PMID:27662471 PMID:28492532 |
|
NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
|
|
G |
Myoz2 |
myozenin 2 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:17347475 PMID:17434779 PMID:19472918 PMID:22310962 PMID:22987565 PMID:23861362 PMID:24033266 PMID:25326637 PMID:25741868 PMID:27532257 PMID:27788187 PMID:28492532 PMID:28798025 |
|
NCBI chr 2:227,180,887...227,207,629
Ensembl chr 2:227,180,886...227,207,635
|
|
G |
Mypn |
myopalladin |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:18006477 PMID:20801532 PMID:22286171 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27884173 PMID:27896284 PMID:28492532 |
|
NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
|
|
G |
Ndufs1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9527842 |
|
NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182
|
|
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 chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398
|
|
G |
Nebl |
nebulette |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr17:84,141,014...84,247,038
Ensembl chr17:84,140,489...84,488,601
|
|
G |
Nexn |
nexilin (F actin binding protein) |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 2:257,452,937...257,484,607
Ensembl chr 2:257,453,347...257,484,587
|
|
G |
Nkx2-5 |
NK2 homeobox 5 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:25741868 |
|
NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
|
|
G |
Nme1 |
NME/NM23 nucleoside diphosphate kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9527842 |
|
NCBI chr10:81,657,152...81,666,542
Ensembl chr10:81,657,153...81,666,523
|
|
G |
Nmnat2 |
nicotinamide nucleotide adenylyltransferase 2 |
|
IEP |
protein:decreased expression, decreased activity:heart |
RGD |
PMID:22449973 |
RGD:13782043 |
NCBI chr13:70,379,346...70,559,311
Ensembl chr13:70,379,346...70,559,458
|
|
G |
Npm1 |
nucleophosmin 1 |
|
ISO |
protein:increased expression:cardiomyocyte: |
RGD |
PMID:21444791 |
RGD:11535018 |
NCBI chr10:18,080,949...18,091,062
Ensembl chr10:18,080,950...18,090,950
|
|
G |
Nppa |
natriuretic peptide A |
|
IEP |
protein:decreased expression:cardiomyocyte |
RGD |
PMID:25820375 |
RGD:13792650 |
NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
|
|
G |
Nr1h3 |
nuclear receptor subfamily 1, group H, member 3 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:80,004,130...80,014,197
Ensembl chr 3:80,004,130...80,012,750
|
|
G |
Nsun6 |
NOP2/Sun RNA methyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 |
|
NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
|
|
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 3:80,072,425...80,081,058
Ensembl chr 3:80,072,489...80,081,047
|
|
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 chr16:49,543,140...49,574,362
Ensembl chr16:49,543,142...49,574,390
|
|
G |
Pepd |
peptidase D |
|
ISS |
|
MouseDO |
|
|
NCBI chr 1:90,820,670...91,285,128
|
|
G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
|
|
G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
|
ISS |
|
MouseDO |
|
|
NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
|
|
G |
Pkp2 |
plakophilin 2 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:189621 PMID:16567567 PMID:17556197 PMID:19863551 PMID:19955750 PMID:20525856 PMID:20716751 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24352520 PMID:25163546 PMID:25637381 PMID:25741868 PMID:26498160 PMID:28301460 PMID:28492532 PMID:29802319 PMID:30445427 |
|
NCBI chr11:88,912,163...88,972,213
|
|
G |
Pln |
phospholamban |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 PMID:22137083 PMID:23861362 PMID:24033266 PMID:25611685 PMID:25741868 PMID:26535225 PMID:27532257 PMID:28492532 PMID:28600387 PMID:28790153 |
|
NCBI chr20:34,633,157...34,642,904
Ensembl chr20:34,633,157...34,642,904
|
|
G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2536513 PMID:2831920 PMID:2853496 PMID:8381257 PMID:8928979 |
|
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
|
|
G |
Ppp6r1 |
protein phosphatase 6, regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:72,756,819...72,784,492
Ensembl chr 1:72,756,809...72,784,482
|
|
G |
Prdm16 |
PR/SET domain 16 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:30311386 |
|
NCBI chr 5:171,662,277...171,711,561
Ensembl chr 5:171,662,277...171,710,316
|
|
G |
Prkag2 |
protein kinase AMP-activated non-catalytic subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:10355918 PMID:10368461 PMID:10820940 PMID:11407343 PMID:11748095 PMID:11827995 PMID:14519435 PMID:14696860 PMID:14722619 PMID:15611370 PMID:15673802 PMID:15877279 PMID:16487706 PMID:16836667 PMID:17483151 PMID:17597581 PMID:17711718 PMID:18403758 PMID:19808419 PMID:20005292 PMID:20031621 PMID:20381067 PMID:20600102 PMID:20888928 PMID:23778007 PMID:23829931 PMID:23992123 PMID:24033266 PMID:24503780 PMID:25092788 PMID:25611685 PMID:25741868 PMID:25997934 PMID:26085771 PMID:26729852 PMID:27189955 PMID:27532257 PMID:27573176 PMID:27621313 PMID:28341588 PMID:28431061 PMID:28492532 PMID:28917552 PMID:29121657 PMID:29298659 PMID:30311386, PMID:16275868 |
RGD:1580716 |
NCBI chr 4:6,559,153...6,799,888
Ensembl chr 4:6,559,545...6,799,632
|
|
G |
Psmc3 |
proteasome 26S subunit, ATPase 3 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:79,876,938...79,882,319
Ensembl chr 3:79,876,938...79,882,319
|
|
G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO ISS |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar MouseDO |
PMID:11992261 PMID:12058348 PMID:14644997 PMID:14961557 PMID:15121796 PMID:15520399 PMID:15539800 PMID:15712196 PMID:15987685 PMID:16338218 PMID:16358218 PMID:16377799 PMID:16638574 PMID:17020470 PMID:17339163 PMID:17361219 PMID:17935252 PMID:18372317 PMID:18373317 PMID:18849586 PMID:19020799 PMID:19054014 PMID:19133693 PMID:19174044 PMID:19737548 PMID:19825837 PMID:19864201 PMID:20308328 PMID:20493809 PMID:20535210 PMID:20883402 PMID:21365175 PMID:21706501 PMID:21901340 PMID:21910245 PMID:22190897 PMID:22315187 PMID:22411627 PMID:22555271 PMID:22585553 PMID:22681964 PMID:23312806 PMID:23317994 PMID:23457302 PMID:23584145 PMID:23813970 PMID:24033266 PMID:24037001 PMID:24451042 PMID:24628801 PMID:24767283 PMID:24775816 PMID:24935154 PMID:25544017 PMID:25585602 PMID:25741868 PMID:25884655 PMID:25917897 PMID:26337637 PMID:27238887 PMID:27484170 PMID:27659786 PMID:28363362 PMID:28492532 PMID:28681392 PMID:29493581 PMID:30311386 PMID:32581362, PMID:22058153 |
RGD:11072362 |
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
|
|
G |
Ptprh |
protein tyrosine phosphatase, receptor type, H |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:72,809,935...72,859,161
Ensembl chr 1:72,810,545...72,859,161
|
|
G |
Rab8b |
RAB8B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:72,641,680...72,714,646
Ensembl chr 8:72,638,003...72,714,664
|
|
G |
Raf1 |
Raf-1 proto-oncogene, serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
CTD ClinVar |
PMID:1760348 PMID:10064593 PMID:17603482 PMID:17603483 PMID:19568997 PMID:19953625 PMID:20052757 PMID:21440552 PMID:21784453 PMID:22389993 PMID:23312806 PMID:23321623 PMID:23877478 PMID:24033266 PMID:24775816 PMID:25706034 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29084544 PMID:29493581 PMID:30311386 |
|
NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
|
|
G |
Rapsn |
receptor-associated protein of the synapse |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
|
|
G |
Rassf1 |
Ras association domain family member 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19652091 |
|
NCBI chr 8:116,307,149...116,318,289
Ensembl chr 8:116,307,141...116,318,289
|
|
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 PMID:27896284 PMID:28492532 PMID:29650543 |
|
NCBI chr 1:274,391,932...274,589,816
Ensembl chr 1:274,391,932...274,589,816
|
|
G |
Retn |
resistin |
|
ISO |
DNA, protein:SNP, increased expression:promoter, serum:-420G>C (rs1862513) (human) |
RGD |
PMID:20171599 |
RGD:7207251 |
NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
|
|
G |
RGD1309540 |
similar to hypothetical protein MGC40841; similar to hypothetical protein MGC4707 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:80,092,589...80,349,249
Ensembl chr 3:80,095,042...80,349,145
|
|
G |
Rnf123 |
ring finger protein 123 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
|
|
NCBI chr 8:116,829,050...116,857,050
Ensembl chr 8:116,829,050...116,856,548
|
|
G |
Rps27l |
ribosomal protein S27-like |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:72,741,155...72,746,090
Ensembl chr 8:72,741,155...72,746,090
|
|
G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 PMID:30311386 |
|
NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
|
|
G |
Ryr2 |
ryanodine receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:18752142 PMID:19926015 PMID:23022705 PMID:24025405 PMID:24033266 PMID:24631775 PMID:25041964 PMID:25741868 PMID:26633542 PMID:27538377 PMID:28404607 PMID:28492532 |
|
NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
|
|
G |
Scn5a |
sodium voltage-gated channel alpha subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:10807545 PMID:12123767 PMID:15689442 PMID:15851227 PMID:16155735 PMID:17227473 PMID:18426444 PMID:19841300 PMID:20129283 PMID:21321465 PMID:22581653 PMID:23861362 PMID:24033266 PMID:24463578 PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
|
|
G |
Sgca |
sarcoglycan, alpha |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:25741868 |
|
NCBI chr10:82,770,905...82,785,142
Ensembl chr10:82,770,905...82,785,142
|
|
G |
Sgcb |
sarcoglycan, beta |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr14:37,113,194...37,128,623
Ensembl chr14:37,113,210...37,128,737
|
|
G |
Slc25a4 |
solute carrier family 25 member 4 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:16155110 PMID:25741868 PMID:30311386, PMID:16155110 |
RGD:1580619 |
NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
|
|
G |
Slc39a13 |
solute carrier family 39 member 13 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:79,884,524...79,892,664
Ensembl chr 3:79,884,524...79,892,429
|
|
G |
Slc9a1 |
solute carrier family 9 member A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19111554 |
|
NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
|
|
G |
Smchd1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:119,675,750...119,818,620
Ensembl chr 9:119,676,628...119,818,310
|
|
G |
Sos1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:21387466 PMID:24033266 PMID:25741868 |
|
NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
|
|
G |
Spi1 |
Spi-1 proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:79,918,127...79,937,708
Ensembl chr 3:79,918,969...79,938,301
|
|
G |
Syt5 |
synaptotagmin 5 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:72,859,806...72,867,934
Ensembl chr 1:72,860,218...72,867,930
|
|
G |
Tbca |
tubulin folding cofactor A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9527842 |
|
NCBI chr 2:24,449,498...24,505,351
Ensembl chr 2:24,449,485...24,505,334
|
|
G |
Tcap |
titin-cap |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:16352453 PMID:17097056 PMID:19035361 PMID:20474083 PMID:22194935 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24037902 PMID:25741868 PMID:26084686 PMID:26350513 PMID:27532257 PMID:27854218 PMID:28492532 |
|
NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
|
|
G |
Tcof1 |
treacle ribosome biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:30311386 |
|
NCBI chr18:56,081,863...56,115,719
Ensembl chr18:56,082,195...56,115,593
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
|
RGD |
PMID:22134166 |
RGD:11073617 |
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
|
|
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 PMID:30311386 |
|
NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
|
|
G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
|
ISO |
|
RGD |
PMID:15056834 |
RGD:1580653 |
NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
|
|
G |
Tmem43 |
transmembrane protein 43 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:18313022 PMID:20010364 PMID:21214875 PMID:22458570 PMID:22725725 PMID:23671136 PMID:23810883 PMID:23812740 PMID:24125834 PMID:24598986 PMID:25343256 PMID:25741868 PMID:26513349 PMID:28491673 PMID:28492532 PMID:29040414 PMID:29980933 PMID:30700137 |
|
NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
|
|
G |
Tmem86b |
transmembrane protein 86B |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:72,784,147...72,807,768
Ensembl chr 1:72,784,966...72,787,367
|
|
G |
Tmpo |
thymopoietin |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
|
|
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 PMID:23425245 PMID:24033266 PMID:24744096 PMID:25741868 PMID:26304555 PMID:26529187 PMID:26779504 PMID:26976709 PMID:27574918 PMID:27604170 PMID:27721798 PMID:28473771 PMID:28492532 PMID:28533433 PMID:30165862, PMID:11385718 |
RGD:1580739 |
NCBI chr16:7,292,207...7,295,238
Ensembl chr16:7,292,096...7,295,465
|
|
G |
Tnni3 |
troponin I3, cardiac type |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic |
ClinVar |
PMID:3144325 PMID:7592712 PMID:9241277 PMID:10098965 PMID:10731705 PMID:10806205 PMID:11055985 PMID:11724573 PMID:11735257 PMID:11801593 PMID:11815426 PMID:11853553 PMID:12044157 PMID:12531876 PMID:12707239 PMID:12746413 PMID:12860912 PMID:12974739 PMID:14575308 PMID:15070570 PMID:15201162 PMID:15519027 PMID:15524171 PMID:15607392 PMID:15631686 PMID:15698845 PMID:15718266 PMID:15774859 PMID:15961398 PMID:15992656 PMID:16020591 PMID:16199542 PMID:16274223 PMID:16288990 PMID:16335287 PMID:16352453 PMID:16531415 PMID:17010989 PMID:17027633 PMID:17463320 PMID:17599605 PMID:17872964 PMID:17932326 PMID:18006163 PMID:18175163 PMID:18269819 PMID:18403758 PMID:18408133 PMID:18409188 PMID:18414213 PMID:18423659 PMID:18430738 PMID:18467357 PMID:18533079 PMID:18548271 PMID:18801787 PMID:19033660 PMID:19035361 PMID:19289050 PMID:19449150 PMID:19645627 PMID:19651143 PMID:19754353 PMID:19914256 PMID:20031602 PMID:20031618 PMID:20035081 PMID:20057144 PMID:20161772 PMID:20215591 PMID:20350521 PMID:20474083 PMID:20530761 PMID:20569525 PMID:20617149 PMID:20624503 PMID:20641121 PMID:20800588 PMID:21239446 PMID:21310275 PMID:21483645 PMID:21511876 PMID:21533915 PMID:21777381 PMID:21799269 PMID:21839045 PMID:21896538 PMID:21967901 PMID:22112859 PMID:22301726 PMID:22361390 PMID:22429680 PMID:22464770 PMID:22675533 PMID:22765922 PMID:22876777 PMID:22958901 PMID:23270746 PMID:23283745 PMID:23396983 PMID:23540544 PMID:23610579 PMID:23690394 PMID:23785128 PMID:23906401 PMID:23967088 PMID:24033266 PMID:24111713 PMID:24113344 PMID:24474965 PMID:24503780 PMID:24510615 PMID:24704860 PMID:24793961 PMID:25086479 PMID:25132132 PMID:25228707 PMID:25239116 PMID:25324519 PMID:25326637 PMID:25342278 PMID:25351510 PMID:25440410 PMID:25524337 PMID:25558701 PMID:25611685 PMID:25741868 PMID:25940119 PMID:26169204 PMID:26199943 PMID:26440512 PMID:26506446 PMID:26688388 PMID:26741492 PMID:26914223 PMID:26936621 PMID:27532257 PMID:27557662 PMID:27600940 PMID:27895589 PMID:28138913 PMID:28166811 PMID:28193612 PMID:28356264 PMID:28382084 PMID:28408708 PMID:28436080 PMID:28492532 PMID:28498465 PMID:28771489 PMID:28790153 PMID:29121657 PMID:29176140 PMID:29255176 PMID:29661763 PMID:29710196 PMID:29907873 PMID:30165862 PMID:30384889 PMID:31568572, PMID:15698845 |
RGD:1580420 |
NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
|
|
G |
Tnnt1 |
troponin T1, slow skeletal type |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar Annotator: match by term: Hypertrophic myocardiopathy, UMLS MESH term: Hypertrophic Obstructive Cardiomyopathy |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:72,889,270...72,899,629
Ensembl chr 1:72,889,270...72,899,659
|
|
G |
Tnnt2 |
troponin T2, cardiac type |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic |
ClinVar CTD |
PMID:2003160 PMID:2946667 PMID:7898523 PMID:8205619 PMID:8951566 PMID:8958207 PMID:9060892 PMID:9140840 PMID:9201030 PMID:9637714 PMID:9788962 PMID:10085122 PMID:10405326 PMID:10449439 PMID:10521296 PMID:10525521 PMID:10529204 PMID:10610467 PMID:10617660 PMID:10850966 PMID:10978365 PMID:11034944 PMID:11060291 PMID:11060294 PMID:11113119 PMID:11158969 PMID:11346248 PMID:11432788 PMID:11560853 PMID:11606294 PMID:11968089 PMID:12084606 PMID:12186860 PMID:12409295 PMID:12473556 PMID:12707239 PMID:12818575 PMID:12860912 PMID:12881443 PMID:12974739 PMID:14563299 PMID:14636924 PMID:14640471 PMID:14654368 PMID:14722098 PMID:15246915 PMID:15542288 PMID:15563892 PMID:15568820 PMID:15631686 PMID:15958377 PMID:16115294 PMID:16115869 PMID:16199542 PMID:16326803 PMID:16715312 PMID:16777946 PMID:16858239 PMID:17101185 PMID:17456375 PMID:17612745 PMID:17932326 PMID:18029407 PMID:18258667 PMID:18403758 PMID:18533079 PMID:18651846 PMID:18809796 PMID:19033660 PMID:19087273 PMID:19150014 PMID:19487599 PMID:19880069 PMID:19914256 PMID:19996403 PMID:20031602 PMID:20031618 PMID:20038417 PMID:20159828 PMID:20414521 PMID:20439259 PMID:20513729 PMID:20624503 PMID:20800588 PMID:21185001 PMID:21245263 PMID:21310275 PMID:21511876 PMID:21683708 PMID:21846512 PMID:22144547 PMID:22321274 PMID:22334656 PMID:22500102 PMID:22579624 PMID:22675533 PMID:22857948 PMID:23074333 PMID:23233322 PMID:23283745 PMID:23396983 PMID:23494605 PMID:23663841 PMID:23674365 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24367593 PMID:24418317 PMID:24503780 PMID:24691700 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25668678 PMID:25741868 PMID:25849606 PMID:26183555 PMID:26507537 PMID:26681313 PMID:26743238 PMID:26914223 PMID:27022107 PMID:27036851 PMID:27483260 PMID:27532257 PMID:27600940 PMID:27930701 PMID:28073646 PMID:28193612 PMID:28408708 PMID:28420666 PMID:28492532 PMID:28566242 PMID:28735292 PMID:28771489 PMID:28790153 PMID:28973951 PMID:29121657 PMID:30311386, PMID:12881443 |
RGD:1580440 |
NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
|
|
G |
Tp53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22000973 |
|
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
|
|
G |
Tpm1 |
tropomyosin 1 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 PMID:09060904 PMID:9245729 PMID:9400381 PMID:09440709 PMID:09822100 PMID:10400910 PMID:10900175 PMID:11136687 PMID:11603924 PMID:11606294 PMID:11968089 PMID:12006676 PMID:12169652 PMID:12473556 PMID:12651045 PMID:12858563 PMID:12860912 PMID:12900417 PMID:14734051 PMID:15000344 PMID:15059934 PMID:15249230 PMID:15479242 PMID:16014439 PMID:16365313 PMID:16504640 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:19035361 PMID:19659763 PMID:20031602 PMID:20117437 PMID:20159828 PMID:20161772 PMID:20215591 PMID:20965760 PMID:21109227 PMID:21239446 PMID:21295541 PMID:21310275 PMID:21320446 PMID:21376702 PMID:21520333 PMID:21551322 PMID:21642532 PMID:21835320 PMID:21840315 PMID:22112859 PMID:22155441 PMID:22187526 PMID:22462493 PMID:22789852 PMID:22794249 PMID:22958901 PMID:23204897 PMID:23283745 PMID:23349452 PMID:23396983 PMID:23508784 PMID:23539503 PMID:23674513 PMID:23700264 PMID:23771913 PMID:24033266 PMID:24170035 PMID:24183960 PMID:24503780 PMID:24510615 PMID:24691700 PMID:24793961 PMID:25031304 PMID:25241052 PMID:25242052 PMID:25326635 PMID:25351510 PMID:25524337 PMID:25525159 PMID:25548289 PMID:25607779 PMID:25611685 PMID:25741868 PMID:26899768 PMID:26936621 PMID:26960954 PMID:27177193 PMID:27376658 PMID:27532257 PMID:27600940 PMID:27639548 PMID:28138913 PMID:28301460 PMID:28356264 PMID:28359939 PMID:28408708 PMID:28492532 PMID:28600229 PMID:28603979 PMID:28615295 PMID:28771489 PMID:28797094 PMID:29024827 PMID:29121657 PMID:29496559 PMID:29517769 PMID:29540472 PMID:29760186 PMID:30165862 PMID:30240712 PMID:30311386 PMID:31308319 PMID:31333075 PMID:31568572 |
|
NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
|
|
G |
Trim63 |
tripartite motif containing 63 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:22821932 PMID:24436435 PMID:25801283 PMID:28492532 |
|
NCBI chr 5:152,533,362...152,547,138
Ensembl chr 5:152,533,349...152,547,179
|
|
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 chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
|
|
G |
Ttn |
titin |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic |
ClinVar |
PMID:17344846 PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 PMID:24271327 PMID:24440382 PMID:24503780 PMID:25163546 PMID:25447171 PMID:25589632 PMID:25741868 PMID:26383259 PMID:26467025 PMID:26498160 PMID:26516846 PMID:26559152 PMID:27930701 PMID:28492532 PMID:28600387 PMID:28750076 PMID:28771489 PMID:28822653 PMID:30311386 PMID:30993396, PMID:10462489 |
RGD:1580781 |
NCBI chr 3:63,565,160...63,837,815
|
|
G |
Ttr |
transthyretin |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:30311386 |
|
NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
|
|
G |
Ucn |
urocortin |
|
ISO |
|
RGD |
PMID:14577573 |
RGD:1580792 |
NCBI chr 6:26,602,144...26,602,974
Ensembl chr 6:26,602,144...26,602,974
|
|
G |
Uqcrc1 |
ubiquinol-cytochrome c reductase core protein 1 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
|
|
NCBI chr 8:117,679,328...117,691,073
Ensembl chr 8:117,679,278...117,691,071
|
|
G |
Usp3 |
ubiquitin specific peptidase 3 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:72,207,970...72,284,871
Ensembl chr 8:72,207,972...72,284,873
|
|
G |
Vcl |
vinculin |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic |
ClinVar |
PMID:16712796 PMID:23299917 PMID:24033266 PMID:24503780 PMID:25741868 PMID:27930701 PMID:28492532 PMID:29875424, PMID:16236538 |
RGD:1580356 |
NCBI chr15:3,455,211...3,544,738
Ensembl chr15:3,455,211...3,544,702
|
|
G |
Xirp1 |
xin actin-binding repeat containing 1 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 8:128,694,809...128,712,092
Ensembl chr 8:128,702,133...128,711,221
|
|
G |
Yy1 |
YY1 transcription factor |
|
ISO |
|
RGD |
PMID:12754214 |
RGD:1580831 |
NCBI chr 6:132,702,443...132,726,848
Ensembl chr 6:132,702,448...132,727,046
|
|
G |
Zic2 |
Zic family member 2 |
|
ISO |
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy |
ClinVar |
PMID:30311386 |
|
NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737
|
|
|
G |
Actn2 |
actinin alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis |
ClinVar |
PMID:14567970 PMID:17097056 PMID:20022194 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25224718 PMID:25611685 PMID:25626705 PMID:25741868 PMID:26899768 PMID:27287556 PMID:27532257 PMID:27854218 PMID:27884168 PMID:27896284 PMID:28301460 PMID:28492532 PMID:29247119 PMID:30311386 PMID:30615648 PMID:30775854 PMID:31333075 PMID:31568572 |
|
NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
|
|
G |
Ankrd1 |
ankyrin repeat domain 1 |
|
ISO |
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 |
ClinVar |
PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
|
|
G |
Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
|
ISO |
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 |
ClinVar |
PMID:26253506 PMID:28492532 PMID:30025578 |
|
NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
|
|
G |
Cav3 |
caveolin 3 |
|
ISO |
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 |
OMIM ClinVar |
PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:17060380 PMID:17210839 PMID:19380584 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26498160 PMID:27483260 PMID:27930701 PMID:28492532 PMID:29961767 |
|
NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
|
|
G |
Cryab |
crystallin, alpha B |
|
ISO |
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis |
ClinVar |
PMID:1560021 PMID:16483541 PMID:16793013 PMID:17116488 PMID:20171888 PMID:21920752 PMID:22106715 PMID:22995991 PMID:23194663 PMID:23299917 PMID:24033266 PMID:25073507 PMID:25208129 PMID:25741868 PMID:26694549 PMID:26961874 PMID:28492532 |
|
NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
|
|
G |
Csrp3 |
cysteine and glycine rich protein 3 |
|
ISO |
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 |
ClinVar |
PMID:16352453 PMID:18505755 PMID:23299917 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28790153 |
|
NCBI chr 1:104,147,205...104,166,389
Ensembl chr 1:104,147,206...104,166,367
|
|
G |
Des |
desmin |
|
ISO |
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
|
|
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 PMID:20400443 PMID:20716751 PMID:20829228 PMID:21062920 PMID:21606390 PMID:21606396 PMID:21859740 PMID:23299917 PMID:23757202 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24967631 PMID:25351510 PMID:25447171 PMID:25637381 PMID:25741868 PMID:28255936 PMID:28492532 |
|
NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
|
|
G |
Dsg2 |
desmoglein 2 |
|
ISO |
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis |
ClinVar |
PMID:17105751 PMID:18678517 PMID:19039334 PMID:20031616 PMID:20031617 PMID:20716751 PMID:20864495 PMID:21606390 PMID:23810883 PMID:23861362 PMID:24033266 PMID:24055113 PMID:25741868 PMID:28492532 |
|
NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
|
|
G |
Dsp |
desmoplakin |
|
ISO |
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 |
ClinVar |
PMID:18632414 PMID:19924139 PMID:20738328 PMID:23381804 PMID:23861362 PMID:23911551 PMID:24033266 PMID:24125834 PMID:24503780 PMID:24704780 PMID:25225338 PMID:25351510 PMID:25693453 PMID:25741868 PMID:26585738 PMID:27854218 PMID:28492532 PMID:30354334 |
|
NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
|
|
G |
Fhl1 |
four and a half LIM domains 1 |
|
ISO |
ClinVar Annotator: match by term: Asymmetric septal hypertrophy |
ClinVar |
|
|
NCBI chr X:159,112,516...159,172,528
Ensembl chr X:159,112,880...159,172,524
|
|
G |
Flnc |
filamin C |
|
ISO |
ClinVar Annotator: match by term: Asymmetric septal hypertrophy |
ClinVar |
|
|
NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
|
|
G |
Gla |
galactosidase, alpha |
|
ISO |
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 |
ClinVar |
PMID:2171331 PMID:8738659 PMID:9100224 PMID:9395081 PMID:9883849 PMID:10208848 PMID:10838196 PMID:10916280 PMID:11322659 PMID:11668641 PMID:11688386 PMID:12428061 PMID:15702404 PMID:15806320 PMID:16533976 PMID:16595074 PMID:16773563 PMID:17040996 PMID:17532296 PMID:17804462 PMID:18154965 PMID:18596132 PMID:20031620 PMID:20360539 PMID:20505683 PMID:21549080 PMID:21598360 PMID:22241068 PMID:22805550 PMID:23219219 PMID:23378663 PMID:23430526 PMID:23935525 PMID:24033266 PMID:24082139 PMID:24380807 PMID:24386359 PMID:24784157 PMID:25040344 PMID:25382311 PMID:25741868 PMID:26415523 PMID:27142856 PMID:27356758 PMID:27560961 PMID:27979989 PMID:28253518 PMID:28492532 PMID:28799081 PMID:29794742 PMID:29867742 PMID:29982630 |
|
NCBI chr X:105,405,915...105,417,331
Ensembl chr X:105,406,792...105,417,323
|
|
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 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24715918 PMID:25741868 PMID:25998140 PMID:28492532 PMID:28837624 |
|
NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
|
|
G |
Ilk |
integrin-linked kinase |
|
ISO |
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:170,578,941...170,585,192
Ensembl chr 1:170,578,889...170,585,189
|
|
G |
Jph2 |
junctophilin 2 |
|
ISO |
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 |
ClinVar |
PMID:17509612 PMID:25741868 |
|
NCBI chr 3:159,709,998...159,776,536
Ensembl chr 3:159,712,325...159,775,643
|
|
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 PMID:28492532 PMID:28831623 PMID:30311386 |
|
NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
|
|
G |
Lama4 |
laminin subunit alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 |
|
NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
|
|
G |
Ldb3 |
LIM domain binding 3 |
|
ISO |
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
|
|
G |
Lmna |
lamin A/C |
|
ISO |
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 |
ClinVar |
PMID:10580070 PMID:16407522 PMID:16585054 PMID:20627339 PMID:22071332 PMID:23142632 PMID:24033266 PMID:24503780 PMID:24846508 PMID:25741868 PMID:27532257 PMID:27760138 PMID:28492532 PMID:28518168 PMID:28663758 PMID:28679633 PMID:29095976 PMID:29237690 |
|
NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
|
|
G |
Mybpc3 |
myosin binding protein C3 |
|
ISO |
ClinVar Annotator: match by term: CMH ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar Annotator: match by term: Asymmetric septal hypertrophy ClinVar Annotator: match by term: HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC |
ClinVar |
PMID:1853307 PMID:2073894 PMID:2561168 PMID:2732257 PMID:2943217 PMID:7493025 PMID:7493026 PMID:9048664 PMID:9503187 PMID:9541104 PMID:9562578 PMID:9631872 PMID:9742053 PMID:10521296 PMID:10610770 PMID:10736283 PMID:11499718 PMID:11499719 PMID:11815426 PMID:11847170 PMID:12110947 PMID:12117842 PMID:12202917 PMID:12386147 PMID:12403824 PMID:12566107 PMID:12628722 PMID:12707239 PMID:12818575 PMID:12951062 PMID:12974739 PMID:14563344 PMID:15010274 PMID:15114369 PMID:15115610 PMID:15166115 PMID:15519027 PMID:15563892 PMID:15769446 PMID:15823648 PMID:15936968 PMID:16004897 PMID:16181148 PMID:16199542 PMID:16267253 PMID:16335287 PMID:16566405 PMID:16651346 PMID:16679492 PMID:16715312 PMID:16754800 PMID:16831826 PMID:16858239 PMID:17560888 PMID:17908752 PMID:18374358 PMID:18400036 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:18713777 PMID:18761664 PMID:18809796 PMID:18926831 PMID:18929575 PMID:18957093 PMID:19035361 PMID:19134269 PMID:19150014 PMID:19273718 PMID:19293840 PMID:19356534 PMID:19574547 PMID:19590044 PMID:19659763 PMID:19808356 PMID:19996403 PMID:20019025 PMID:20031602 PMID:20031618 PMID:20045868 PMID:20051424 PMID:20159828 PMID:20173211 PMID:20215591 PMID:20359594 PMID:20378854 PMID:20414521 PMID:20433692 PMID:20435227 PMID:20439259 PMID:20474083 PMID:20505798 PMID:20530761 PMID:20624503 PMID:20738943 PMID:20800588 PMID:20818890 PMID:20864638 PMID:21088121 PMID:21185001 PMID:21239446 PMID:21252143 PMID:21297165 PMID:21302287 PMID:21310275 PMID:21415409 PMID:21424860 PMID:21472310 PMID:21488307 PMID:21499742 PMID:21511876 PMID:21551322 PMID:21638988 PMID:21750094 PMID:21832025 PMID:21832052 PMID:21835320 PMID:21839045 PMID:21959974 PMID:21985754 PMID:22057632 PMID:22115648 PMID:22177269 PMID:22194935 PMID:22267749 PMID:22337857 PMID:22361390 PMID:22386539 PMID:22429680 PMID:22455086 PMID:22462493 PMID:22464770 PMID:22555271 PMID:22563033 PMID:22569109 PMID:22574137 PMID:22589294 PMID:22763267 PMID:22765922 PMID:22857948 PMID:22907696 PMID:22958901 PMID:22995991 PMID:23054336 PMID:23074333 PMID:23140321 PMID:23164068 PMID:23197398 PMID:23217326 PMID:23233322 PMID:23283745 PMID:23299917 PMID:23348723 PMID:23349452 PMID:23396983 PMID:23418287 PMID:23527136 PMID:23534983 PMID:23549607 PMID:23642604 PMID:23674513 PMID:23690394 PMID:23782526 PMID:23820649 PMID:23840593 PMID:23861362 PMID:23980194 PMID:24033266 PMID:24055113 PMID:24062880 PMID:24083979 PMID:24093860 PMID:24111713 PMID:24113344 PMID:24119082 PMID:24503780 PMID:24510615 PMID:24602869 PMID:24621997 PMID:24704860 PMID:24721642 PMID:24774285 PMID:24774606 PMID:24793961 PMID:24795128 PMID:24810389 PMID:24835277 PMID:24865491 PMID:25031304 PMID:25037680 PMID:25058872 PMID:25078086 PMID:25086479 PMID:25163546 PMID:25214167 PMID:25262865 PMID:25335496 PMID:25342278 PMID:25351510 PMID:25377941 PMID:25447171 PMID:25524337 PMID:25525159 PMID:25558701 PMID:25569433 PMID:25611685 PMID:25631583 PMID:25637381 PMID:25740977 PMID:25741868 PMID:25971843 PMID:26090888 PMID:26178432 PMID:26189708 PMID:26267065 PMID:26332198 PMID:26332594 PMID:26458567 PMID:26467025 PMID:26654849 PMID:26671970 PMID:26688216 PMID:26822237 PMID:26914223 PMID:26936621 PMID:27000522 PMID:27096365 PMID:27108529 PMID:27153395 PMID:27194543 PMID:27267291 PMID:27418595 PMID:27435932 PMID:27483260 PMID:27532257 PMID:27561770 PMID:27576561 PMID:27600940 PMID:27650965 PMID:27688314 PMID:27737317 PMID:27831900 PMID:27834932 PMID:27841901 PMID:27854218 PMID:27896284 PMID:27930701 PMID:28024942 PMID:28087566 PMID:28166282 PMID:28193612 PMID:28214152 PMID:28323875 PMID:28356264 PMID:28408708 PMID:28416588 PMID:28420666 PMID:28436997 PMID:28492532 PMID:28498465 PMID:28518168 PMID:28538763 PMID:28615295 PMID:28679633 PMID:28771489 PMID:28790153 PMID:28794111 PMID:28807990 PMID:28971120 PMID:29029073 PMID:29030401 PMID:29121657 PMID:29212898 PMID:29247119 PMID:29367541 PMID:29451820 PMID:29540445 PMID:29555771 PMID:29663722 PMID:29875314 PMID:29875424 PMID:30165862 PMID:30297972 PMID:30311386 PMID:30645170 PMID:30762279 PMID:30847666 PMID:30871747 PMID:31333075 PMID:31568572 PMID:397516074 |
|
NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
|
|
G |
Myh6 |
myosin heavy chain 6 |
|
ISO |
ClinVar Annotator: match by OMIM:192600 ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:15998695 PMID:16858239 PMID:20031618 PMID:20173211 PMID:20215591 PMID:20359594 PMID:20656787 PMID:21302287 PMID:21483645 PMID:21835320 PMID:22194935 PMID:22361390 PMID:23299917 PMID:23674513 PMID:23861362 PMID:24033266 PMID:24119082 PMID:25163546 PMID:25351510 PMID:25741868 PMID:26656175 PMID:27194543 PMID:27789736 PMID:28088328 PMID:28492532 PMID:28600387 PMID:28771489 PMID:28797094 PMID:28991257 PMID:29332214 |
|
NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
|
|
G |
Myh7 |
myosin heavy chain 7 |
|
ISO |
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar Annotator: match by OMIM:192600 |
OMIM ClinVar |
PMID:1361491 PMID:1423936 PMID:1430197 PMID:1472461 PMID:1552912 PMID:1634614 PMID:1638703 PMID:1739523 PMID:1944483 PMID:1975517 PMID:1975599 PMID:2136805 PMID:2249844 PMID:2790153 PMID:3203908 PMID:4104682 PMID:7581410 PMID:7662452 PMID:7731997 PMID:7786104 PMID:7788887 PMID:7789380 PMID:7796500 PMID:7848420 PMID:7848441 PMID:7874131 PMID:7883988 PMID:7909436 PMID:7994801 PMID:8186698 PMID:8250038 PMID:8254035 PMID:8268932 PMID:8281650 PMID:8282798 PMID:8335820 PMID:8343162 PMID:8435239 PMID:8483915 PMID:8490051 PMID:8514894 PMID:8533830 PMID:8614836 PMID:8655135 PMID:8788376 PMID:8898372 PMID:8981935 PMID:9001794 PMID:9058851 PMID:9062359 PMID:9105042 PMID:9140824 PMID:9140839 PMID:9154300 PMID:9172070 PMID:9271024 PMID:9541509 PMID:9544842 PMID:9822100 PMID:9826622 PMID:9829907 PMID:9835779 PMID:9874056 PMID:9884344 PMID:10024460 PMID:10065021 PMID:10086390 PMID:10328076 PMID:10424815 PMID:10521296 PMID:10563488 PMID:10567705 PMID:10606622 PMID:10662815 PMID:10725281 PMID:10750581 PMID:10764406 PMID:10862102 PMID:10874840 PMID:10882745 PMID:10900182 PMID:10957787 PMID:11113006 PMID:11133230 PMID:11186938 PMID:11196015 PMID:11227787 PMID:11377367 PMID:11424919 PMID:11433818 PMID:11447480 PMID:11498078 PMID:11723028 PMID:11733062 PMID:11861410 PMID:11861413 PMID:11904418 PMID:11968089 PMID:12081993 PMID:12084606 PMID:12117842 PMID:12379228 PMID:12473556 PMID:12566107 PMID:12601548 PMID:12707239 PMID:12749056 PMID:12818575 PMID:12820698 PMID:12881443 PMID:12951062 PMID:12953063 PMID:12974739 PMID:12975413 PMID:13732753 PMID:15000344 PMID:15001446 PMID:15008060 PMID:15010274 PMID:15114369 PMID:15136674 PMID:15322983 PMID:15358028 PMID:15483641 PMID:15519027 PMID:15528230 PMID:15550524 PMID:15556047 PMID:15563892 PMID:15757018 PMID:15769782 PMID:15856146 PMID:15858117 PMID:16115294 PMID:16137545 PMID:16199542 PMID:16253604 PMID:16267253 PMID:16335287 PMID:16352453 PMID:16504640 PMID:16630449 PMID:16630450 PMID:16650083 PMID:16684601 PMID:16715312 PMID:16754800 PMID:16858239 PMID:16918501 PMID:16938236 PMID:17097032 PMID:17125710 PMID:17180650 PMID:17192269 PMID:17336526 PMID:17351073 PMID:17372140 PMID:17383184 PMID:17438619 PMID:17476457 PMID:17495353 PMID:17548557 PMID:17560888 PMID:17599605 PMID:17612745 PMID:17703256 PMID:17947214 PMID:17987111 PMID:18020371 PMID:18029407 PMID:18076673 PMID:18175163 PMID:18258667 PMID:18374998 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18411228 PMID:18414213 PMID:18506004 PMID:18533079 PMID:18555187 PMID:18565996 PMID:18761664 PMID:18953637 PMID:19134269 PMID:19138847 PMID:19149795 PMID:19150014 PMID:19336582 PMID:19412328 PMID:19645038 PMID:19651039 PMID:19659763 PMID:19666645 PMID:19808347 PMID:19808356 PMID:19864899 PMID:19880069 PMID:20031602 PMID:20031618 PMID:20075948 PMID:20086309 PMID:20215591 PMID:20298698 PMID:20309391 PMID:20350521 PMID:20359594 PMID:20378854 PMID:20394946 PMID:20428263 PMID:20439259 PMID:20474083 PMID:20513729 PMID:20624503 PMID:20641121 PMID:20646679 PMID:20664766 PMID:20733148 PMID:20738943 PMID:20800588 PMID:20811150 PMID:20817590 PMID:20819418 PMID:20865685 PMID:20965760 PMID:20975235 PMID:20981092 PMID:21127202 PMID:21216834 PMID:21239280 PMID:21239446 PMID:21252143 PMID:21302287 PMID:21310275 PMID:21425739 PMID:21426742 PMID:21499742 PMID:21511876 PMID:21551322 PMID:21576279 PMID:21642240 PMID:21674835 PMID:21750094 PMID:21769673 PMID:21799269 PMID:21811976 PMID:21835320 PMID:21839045 PMID:21896538 PMID:21943931 PMID:21958740 PMID:21959974 PMID:22112859 PMID:22213221 PMID:22260945 PMID:22337857 PMID:22429680 PMID:22455086 PMID:22464770 PMID:22555271 PMID:22735528 PMID:22763267 PMID:22765922 PMID:22784669 PMID:22811549 PMID:22857948 PMID:22918376 PMID:22958901 PMID:23054336 PMID:23074333 PMID:23140321 PMID:23197161 PMID:23233322 PMID:23271734 PMID:23281406 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23318932 PMID:23349452 PMID:23396983 PMID:23403236 PMID:23408646 PMID:23426552 PMID:23508784 PMID:23549607 PMID:23580644 PMID:23674513 PMID:23690394 PMID:23707328 PMID:23711808 PMID:23712688 PMID:23751935 PMID:23782526 PMID:23785128 PMID:23794396 PMID:23798412 PMID:23816408 PMID:23861362 PMID:24033266 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24119082 PMID:24183960 PMID:24268868 PMID:24298987 PMID:24344137 PMID:24498601 PMID:24503780 PMID:24510615 PMID:24621997 PMID:24664454 PMID:24691700 PMID:24704860 PMID:24721642 PMID:24749114 PMID:24793961 PMID:24829265 PMID:24835277 PMID:24865491 PMID:24888384 PMID:24928957 PMID:25031304 PMID:25078086 PMID:25086479 PMID:25125180 PMID:25132132 PMID:25163446 PMID:25163546 PMID:25228707 PMID:25239116 PMID:25326637 PMID:25327599 PMID:25342278 PMID:25346696 PMID:25351510 PMID:25467552 PMID:25524337 PMID:25558701 PMID:25611685 PMID:25637381 PMID:25649125 PMID:25666907 PMID:25714468 PMID:25741868 PMID:25892673 PMID:25935763 PMID:25937619 PMID:25961035 PMID:26187847 PMID:26220970 PMID:26332594 PMID:26446785 PMID:26458567 PMID:26467025 PMID:26468400 PMID:26497160 PMID:26573135 PMID:26627873 PMID:26688388 PMID:26743238 PMID:26846766 PMID:26912705 PMID:26914223 PMID:26936621 PMID:26969127 PMID:26969327 PMID:27000522 PMID:27066506 PMID:27066507 PMID:27082122 PMID:27153395 PMID:27161882 PMID:27247418 PMID:27352967 PMID:27460395 PMID:27483260 PMID:27532257 PMID:27574918 PMID:27576561 PMID:27600940 PMID:27688314 PMID:27707468 PMID:27737317 PMID:27788187 PMID:27831900 PMID:27841901 PMID:27854218 PMID:27884173 PMID:27885498 PMID:27930701 PMID:27974200 PMID:28087426 PMID:28125727 PMID:28138913 PMID:28193612 PMID:28202948 PMID:28241245 PMID:28246639 PMID:28265379 PMID:28296734 PMID:28356264 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28498465 PMID:28518168 PMID:28588093 PMID:28606303 PMID:28611029 PMID:28615295 PMID:28640247 PMID:28687478 PMID:28704380 PMID:28771489 PMID:28790153 PMID:28794111 PMID:28798025 PMID:28807990 PMID:28878402 PMID:28971120 PMID:28973424 PMID:28986452 PMID:29029073 PMID:29030401 PMID:29101517 PMID:29121657 PMID:29169752 PMID:29178653 PMID:29212898 PMID:29300372 PMID:29343710 PMID:29540472 PMID:29661763 PMID:29875424 PMID:29907873 PMID:29970176 PMID:30022097 PMID:30206291 PMID:30217213 PMID:30275503 PMID:30297972 PMID:30311386 PMID:30511546 PMID:30775854 PMID:30868567 PMID:30871747 PMID:31112422 PMID:31130376 PMID:31333075 PMID:31568572 |
|
NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
|
|
G |
Myh7b |
myosin heavy chain 7B |
|
ISO |
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 |
ClinVar |
|
|
NCBI chr 3:151,105,038...151,150,621
Ensembl chr 3:151,126,591...151,150,344
|
|
G |
Myl2 |
myosin light chain 2 |
|
ISO |
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis |
ClinVar |
PMID:08673105 PMID:09535554 PMID:11102452 PMID:11748309 PMID:12404107 PMID:12668451 PMID:12707239 PMID:12818575 PMID:14594949 PMID:15483641 PMID:15706574 PMID:16837010 PMID:18506004 PMID:18533079 PMID:18929571 PMID:19150977 PMID:20173211 PMID:20855589 PMID:21310275 PMID:21415409 PMID:21723297 PMID:21835320 PMID:22091967 PMID:22260945 PMID:22797899 PMID:22958901 PMID:23197161 PMID:23283745 PMID:23299917 PMID:23343568 PMID:23396983 PMID:23727233 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24111713 PMID:25324513 PMID:25333069 PMID:25351510 PMID:25524337 PMID:25637381 PMID:25741868 PMID:26116789 PMID:26187847 PMID:26284228 PMID:26664906 PMID:26914223 PMID:27153395 PMID:27435932 PMID:27483260 PMID:27532257 PMID:27600940 PMID:28223422 PMID:28467684 PMID:28492532 PMID:28771489 PMID:29398688 PMID:29452157 PMID:29710196 PMID:30403391 PMID:30430732 |
|
NCBI chr12:39,951,863...39,959,065
Ensembl chr12:39,951,987...39,958,239
|
|
G |
Myl3 |
myosin light chain 3 |
|
ISO |
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 |
ClinVar |
PMID:8673105 PMID:11174330 PMID:12021217 PMID:16754800 PMID:20641121 PMID:21239446 PMID:21823217 PMID:22131351 PMID:22958901 PMID:23283745 PMID:23396983 PMID:23426552 PMID:23549607 PMID:23594557 PMID:23748425 PMID:24033266 PMID:24111713 PMID:25132132 PMID:25326637 PMID:25342278 PMID:25351510 PMID:25637381 PMID:25741868 PMID:25910212 PMID:26633542 PMID:27483260 PMID:27532257 PMID:27574918 PMID:28356264 PMID:28371863 PMID:28492532 PMID:28518168 PMID:28658286 PMID:28771489 PMID:28971120 PMID:29669825 PMID:29710196 PMID:29914921 PMID:30297972 PMID:30706179 PMID:31110529 PMID:31199839 |
|
NCBI chr 8:119,030,852...119,036,996
Ensembl chr 8:119,030,875...119,036,996
|
|
G |
Mylk2 |
myosin light chain kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar Annotator: match by OMIM:192600 |
OMIM ClinVar |
PMID:11733062 PMID:22995991 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 |
|
NCBI chr 3:148,386,185...148,397,851
Ensembl chr 3:148,386,189...148,399,501
|
|
G |
Mypn |
myopalladin |
|
ISO |
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
|
|
G |
Nexn |
nexilin (F actin binding protein) |
|
ISO |
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28798025 |
|
NCBI chr 2:257,452,937...257,484,607
Ensembl chr 2:257,453,347...257,484,587
|
|
G |
Pkp2 |
plakophilin 2 |
|
ISO |
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis |
ClinVar |
PMID:19955750 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20857253 PMID:21062920 PMID:21606390 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26676851 PMID:28492532 PMID:31539150 |
|
NCBI chr11:88,912,163...88,972,213
|
|
G |
Prkag2 |
protein kinase AMP-activated non-catalytic subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 |
ClinVar |
PMID:10355918 PMID:10820940 PMID:11407343 PMID:11827995 PMID:14722619 PMID:15611370 PMID:15673802 PMID:16836667 PMID:17483151 PMID:17711718 PMID:19808419 PMID:20031621 PMID:20381067 PMID:20888928 PMID:23778007 PMID:23829931 PMID:23992123 PMID:24033266 PMID:25741868 PMID:25997934 PMID:27532257 PMID:28431061 PMID:28492532 PMID:28917552 PMID:29298659 PMID:30311386 |
|
NCBI chr 4:6,559,153...6,799,888
Ensembl chr 4:6,559,545...6,799,632
|
|
G |
Raf1 |
Raf-1 proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 |
ClinVar |
PMID:17603482 PMID:17603483 PMID:17603487 PMID:17603489 PMID:18241070 PMID:18505544 PMID:19933846 PMID:19953625 PMID:20052757 PMID:20679480 PMID:20683980 PMID:21339642 PMID:21784453 PMID:22465605 PMID:22781091 PMID:22826437 PMID:23321623 PMID:24033266 PMID:24803665 PMID:25741868 PMID:26266034 PMID:26918529 PMID:28492532 PMID:29948256 |
|
NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
|
|
G |
Rbm20 |
RNA binding motif protein 20 |
|
ISO |
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:274,391,932...274,589,816
Ensembl chr 1:274,391,932...274,589,816
|
|
G |
Scn5a |
sodium voltage-gated channel alpha subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis |
ClinVar |
PMID:8661019 PMID:11823453 PMID:12639704 PMID:15121794 PMID:15689442 PMID:15851227 PMID:15851440 PMID:15992732 PMID:16155735 PMID:16568155 PMID:16707561 PMID:17210839 PMID:17605181 PMID:17905336 PMID:18245395 PMID:18378609 PMID:18976777 PMID:19841300 PMID:20129283 PMID:20981092 PMID:22378279 PMID:22519808 PMID:22581653 PMID:22682427 PMID:23465283 PMID:23853484 PMID:23861362 PMID:24033266 PMID:24784157 PMID:25051102 PMID:25741868 PMID:26131924 PMID:26159999 PMID:26467025 PMID:27153395 PMID:28472724 PMID:28491758 PMID:28492532 PMID:28493952 PMID:28498465 PMID:28638671 PMID:29672598 PMID:29997009 PMID:30079003 PMID:30146492 PMID:30419068 |
|
NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
|
|
G |
Sgcd |
sarcoglycan, delta |
|
ISO |
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 |
ClinVar |
PMID:23861362 PMID:24033266 PMID:28492532 |
|
NCBI chr10:32,062,946...32,471,454
Ensembl chr10:32,062,946...32,471,454
|
|
G |
Taf10 |
TATA-box binding protein associated factor 10 |
|
ISO |
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:170,585,160...170,586,428
Ensembl chr 1:170,585,167...170,586,603
|
|
G |
Tcap |
titin-cap |
|
ISO |
ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 |
ClinVar |
PMID:12955720 PMID:15689448 PMID:16783378 PMID:16911908 PMID:18414213 PMID:18484607 PMID:18585512 PMID:19035361 PMID:19412328 PMID:19881469 PMID:20215591 PMID:20301515 PMID:20301718 PMID:20301788 PMID:20474083 PMID:21735565 PMID:21943391 PMID:22194935 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24037902 PMID:24503780 PMID:25326637 PMID:25741868 PMID:26084686 PMID:26332198 PMID:26350513 PMID:26467025 PMID:27532257 PMID:27854218 PMID:28492532 PMID:30311386 PMID:30871747 |
|
NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
|
|
G |
Tnni3 |
troponin I3, cardiac type |
|
ISO |
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis |
ClinVar |
PMID:3144325 PMID:9241277 PMID:10098965 PMID:10806205 PMID:11735257 PMID:12531876 PMID:12707239 PMID:12860912 PMID:15070570 PMID:15607392 PMID:15698845 PMID:15961398 PMID:15992656 PMID:16020591 PMID:16199542 PMID:16352453 PMID:16531415 PMID:17027633 PMID:17463320 PMID:18408133 PMID:18423659 PMID:19289050 PMID:19449150 PMID:20161772 PMID:20350521 PMID:20474083 PMID:20624503 PMID:20641121 PMID:20800588 PMID:21239446 PMID:21310275 PMID:21511876 PMID:21533915 PMID:21799269 PMID:21839045 PMID:21896538 PMID:21967901 PMID:22301726 PMID:22429680 PMID:22464770 PMID:22675533 PMID:22876777 PMID:23270746 PMID:23283745 PMID:23540544 PMID:23610579 PMID:23906401 PMID:23967088 PMID:24033266 PMID:24111713 PMID:24113344 PMID:24474965 PMID:24503780 PMID:24510615 PMID:25132132 PMID:25228707 PMID:25326637 PMID:25342278 PMID:25351510 PMID:25440410 PMID:25524337 PMID:25611685 PMID:25741868 PMID:25940119 PMID:26169204 PMID:26440512 PMID:26741492 PMID:27532257 PMID:27600940 PMID:28138913 PMID:28166811 PMID:28193612 PMID:28356264 PMID:28492532 PMID:28771489 PMID:28790153 |
|
NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
|
|
G |
Tnnt2 |
troponin T2, cardiac type |
|
ISO |
ClinVar Annotator: match by term: CMH ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis |
ClinVar |
PMID:2946667 PMID:7898523 PMID:8205619 PMID:8951566 PMID:9060892 PMID:9154300 PMID:9201030 PMID:10085122 PMID:10405326 PMID:10467159 PMID:10497196 PMID:10521296 PMID:10525521 PMID:10610467 PMID:10617660 PMID:10978365 PMID:11346248 PMID:11432788 PMID:11560853 PMID:11606294 PMID:11968089 PMID:12084606 PMID:12707239 PMID:12818575 PMID:12860912 PMID:12881443 PMID:12974739 PMID:14563299 PMID:14636924 PMID:14640471 PMID:14654368 PMID:14722098 PMID:15246915 PMID:15519027 PMID:15542288 PMID:15958377 PMID:16115294 PMID:16115869 PMID:16199542 PMID:16326803 PMID:16715312 PMID:16777946 PMID:17101185 PMID:17612745 PMID:18029407 PMID:18403758 PMID:18533079 PMID:19033660 PMID:19035361 PMID:19150014 PMID:19275886 PMID:19412328 PMID:19880069 PMID:19914256 PMID:20031601 PMID:20031602 PMID:20031618 PMID:20038417 PMID:20057144 PMID:20215591 PMID:20414521 PMID:20624503 PMID:20800588 | |