heart valve disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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:	heart valve disease	go back to main search page
Accession:	DOID:4079	browse the term
Definition:	A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right). (DO)
Synonyms:	exact_synonym:	Valvular Heart Disease; Valvular Heart Diseases; heart valve diseases
	primary_id:	MESH:D006349
	xref:	EFO:0009551; NCI:C45525
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (543) Mouse (544) Human (24536) Chinchilla (493) Bonobo (526) Dog (533) Squirrel (507) Pig (520) Green Monkey (522) Naked Mole-rat (501) All
Genes (539) Strains (4)

heart valve disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

susceptibility

associated with rheumatic fever;DNA:insertion/deletion:intron 16:

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

ADAM metallopeptidase with thrombospondin type 1 motif, 19

CTD Direct Evidence: marker/mechanism

NCBI chr18:52,346,448...52,531,245
Ensembl chr18:52,347,428...52,530,509

G

ADAMTS-like 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554

G

bone gamma-carboxyglutamate protein

CTD Direct Evidence: marker/mechanism

NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495

G

complement C6

CTD Direct Evidence: marker/mechanism

NCBI chr 2:53,846,028...53,921,279
Ensembl chr 2:53,851,985...53,921,275

G

caspase 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 9

CTD Direct Evidence: marker/mechanism

NCBI chr10:68,366,486...68,371,408
Ensembl chr10:68,366,487...68,371,369

G

collagen type XVIII alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

collagen type I alpha 2 chain

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15077201 PMID:15077201 PMID:16816023

RGD:1581198, RGD:1581196

NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867

G

Fc gamma receptor 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994

G

Fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350

G

polypeptide N-acetylgalactosaminyltransferase 1

NCBI chr18:15,489,015...15,568,849
Ensembl chr18:15,489,020...15,568,245

G

5-hydroxytryptamine receptor 2B

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:10617681 PMID:11104741 PMID:16141947 PMID:19505264 PMID:19346455

NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108

G

interleukin 18

CTD Direct Evidence: marker/mechanism

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600

G

Janus kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

lipocalin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095

G

LDL receptor related protein 5

protein:increased expression:heart valve

RGD

NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581

G

lymphocyte-specific protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:197,614,677...197,648,414
Ensembl chr 1:197,614,687...197,648,416

G

lymphocyte antigen 86

CTD Direct Evidence: marker/mechanism

NCBI chr17:27,415,807...27,499,695
Ensembl chr17:27,415,830...27,487,260

G

matrix metallopeptidase 2

protein:increased expression:serum

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

protein:increased expression:serum

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

protocadherin alpha 9

CTD Direct Evidence: marker/mechanism

Ensembl chr18:28,581,225...28,846,211

G

protein tyrosine phosphatase, non-receptor type 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955

G

receptor-interacting serine-threonine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121

G

sialophorin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664

G

tumor necrosis factor

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

aortic valve disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif, 19

NCBI chr18:52,346,448...52,531,245
Ensembl chr18:52,347,428...52,530,509

G

epidermal growth factor receptor

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

elastin

NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928

G

glutathione peroxidase 3

mRNA:decreased expression:aortic valve

RGD

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

G

hes-related family bHLH transcription factor with YRPW motif 2

NCBI chr 1:26,822,131...26,832,218
Ensembl chr 1:26,822,131...26,832,218

G

nitric oxide synthase 3

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

notch receptor 1

ClinVar Annotator: match by term: AORTIC VALVE DISEASE

PMID:18593716 PMID:20951801 PMID:20981092 PMID:25260786 PMID:25741868 More...

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

recombination signal binding protein for immunoglobulin kappa J region

NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353

aortic valve disease 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type V alpha 1 chain

ClinVar Annotator: match by term: Aortic valve disease 1

PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434 More...

NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

mRNA:increased expression:aorta (rat)

RGD

NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715

G

GATA binding protein 5

ClinVar Annotator: match by term: Aortic valve disease 1

PMID:28387797 PMID:28492532 PMID:30675029

NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751

G

interleukin 6

severity

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

notch receptor 1

DNA:nonsense mutation, deletion:cds:p.R1108X, p.H1505Xfs (human)
ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition

ClinVar
OMIM
RGD

PMID:9536098 PMID:15472075 PMID:16025100 PMID:16614245 PMID:16729972 More...

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

SMAD family member 6

ClinVar Annotator: match by term: Aortic valve disease 1

PMID:28492532 PMID:30796334

NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763

G

T-box transcription factor 20

ClinVar Annotator: match by term: Aortic valve disease 1

PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28553164 More...

NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175

aortic valve disease 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FTO, alpha-ketoglutarate dependent dioxygenase

sexual_dimorphism

DNA:SNP: :rs9939609 (human)

RGD

NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083

G

lamin A/C

protein:decreased expression:aorta wall, nucleus (human)

RGD

NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423

G

matrix metallopeptidase 2

protein:increased expression:serum

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

NK2 homeobox 5

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 chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934

G

SMAD family member 3

ClinVar Annotator: match by term: Aortic valve disease 2

NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960

G

SMAD family member 6

ClinVar Annotator: match by term: Aortic valve disease 2

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22275001 PMID:25741868 More...

NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763

G

T-box transcription factor 3

ClinVar Annotator: match by term: Aortic valve disease 2

PMID:28492532 PMID:33930582

NCBI chr12:36,879,924...36,894,849
Ensembl chr12:36,881,445...36,893,708

G

T-box transcription factor 5

ClinVar Annotator: match by term: Aortic valve disease 2

PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:9536098 More...

NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885

aortic valve disease 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

roundabout guidance receptor 4

ClinVar Annotator: match by term: Aortic valve disease 3 | ClinVar Annotator: match by term: ROBO4-related condition

PMID:25741868 PMID:28492532 PMID:30455415

NCBI chr 8:37,119,953...37,133,887
Ensembl chr 8:37,119,988...37,132,519

aortic valve insufficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cellular communication network factor 2

mRNA:increased expression:left ventricle (rat)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21216836 PMID:19112094

NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

collagen type III alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547

G

fibrillin 1

ClinVar Annotator: match by term: Aortic regurgitation

PMID:25741868 PMID:28492532

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

G

fibronectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678

G

follistatin-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:62,895,391...62,948,581
Ensembl chr11:62,779,783...62,948,677

G

lysyl oxidase

CTD Direct Evidence: marker/mechanism

NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477

G

mannose binding lectin 2

susceptibility

associated with Rheumatic Fever;DNA:polymorphism:exon:

RGD

NCBI chr 1:228,016,439...228,024,736

G

natriuretic peptide A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351

G

natriuretic peptide B

CTD Direct Evidence: marker/mechanism

NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

transforming growth factor, beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664

aortic valve stenosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenoceptor beta 1

RGD

NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259

G

apolipoprotein B

RGD

NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497

G

BMP and activin membrane-bound inhibitor

protein:increased expression:myocardium:

RGD

NCBI chr17:54,121,251...54,125,816
Ensembl chr17:54,121,255...54,126,060

G

epidermal growth factor receptor

RGD

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

early growth response 1

protein:increased expression:aortic valve cusp

RGD

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

elastin

RGD

NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928

G

enolase 3

mRNA:decreased expression:cardiac muscle cell

RGD

NCBI chr10:55,370,531...55,375,921
Ensembl chr10:55,366,975...55,375,921

G

estrogen receptor 2

RGD

NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

G

jumonji and AT-rich interaction domain containing 2

mRNA, protein:decreased expression:ventricle endocardium (human)

RGD

NCBI chr17:19,777,487...19,957,696
Ensembl chr17:19,777,266...19,955,690

G

galectin 3

RGD

NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025

G

microRNA 210

severity

miRNA:increased expression:blood serum (human)

RGD

NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454

G

matrix metallopeptidase 1

RGD

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

nuclear factor of activated T-cells 1

severity

RGD

NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028

G

natriuretic peptide C

mRNA:decreased expression:aortic valve

RGD

NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251

G

O-linked N-acetylglucosamine (GlcNAc) transferase

mRNA:increased expression:heart left ventricle (human)

RGD

NCBI chr X:66,771,278...66,816,148
Ensembl chr X:66,771,349...66,816,146

G

protein phosphatase 3 catalytic subunit beta

RGD

NCBI chr15:3,759,950...3,804,976
Ensembl chr15:3,760,030...3,804,981

G

protein tyrosine phosphatase, non-receptor type 11

with Egfr mutation

RGD

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

Sp7 transcription factor

severity

RGD

NCBI chr 7:133,484,609...133,494,788
Ensembl chr 7:133,484,609...133,494,847

G

tumor necrosis factor

OMIM:109730 | OMIM:614823

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 11B

protein:increased expression:serum

RGD

NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538

G

vitamin D receptor

RGD

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

Apical Hypertrophic Cardiomyopathy and Neuropathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrially encoded ATP synthase membrane subunit 6

ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy

NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599

G

mitochondrially encoded ATP synthase membrane subunit 8

ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy

NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961

autosomal dominant nonsyndromic deafness 22

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin VI

ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22
OMIM:606346

OMIM
ClinVar
MouseDO

PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More...

NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292

bicuspid aortic valve disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor type 1

RGD

NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241

G

GATA binding protein 5

exacerbates

DNA:mutations:cds:c.46T>G (p.Y16D), c.754A>C ((p.T252P)(human)

RGD

PMID:21633169 PMID:22536403 PMID:24638895

RGD:155260352, RGD:329337340, RGD:155260354

NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751

G

matrix Gla protein

CTD Direct Evidence: marker/mechanism

NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667

G

mitochondrially encoded ATP synthase membrane subunit 6

ClinVar Annotator: match by term: Bicuspid aortic valve

NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599

G

mitochondrially encoded ATP synthase membrane subunit 8

ClinVar Annotator: match by term: Bicuspid aortic valve

NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961

G

myosin heavy chain 11

ClinVar Annotator: match by term: Bicuspid aortic valve

PMID:25741868 PMID:28492532

NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459

G

notch receptor 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bicuspid aortic valve

PMID:24728327 PMID:25741868 PMID:28492532 PMID:30255099 PMID:30455415

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

protein disulfide isomerase family A, member 2

ClinVar Annotator: match by term: Bicuspid aortic valve

NCBI chr10:15,215,824...15,218,937
Ensembl chr10:15,215,824...15,220,931

G

roundabout guidance receptor 2

RGD

NCBI chr11:12,528,949...14,096,726
Ensembl chr11:12,528,951...13,041,536

G

roundabout guidance receptor 4

ClinVar Annotator: match by term: Bicuspid aortic valve
CTD Direct Evidence: marker/mechanism

PMID:25741868 PMID:30455415

NCBI chr 8:37,119,953...37,133,887
Ensembl chr 8:37,119,988...37,132,519

G

solute carrier family 2 member 10

ClinVar Annotator: match by term: Bicuspid aortic valve

PMID:25741868 PMID:28492532

NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690

G

SMAD family member 6

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bicuspid aortic valve

PMID:25741868 PMID:28492532 PMID:30455415

NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763

Calcification of Aortic Valve

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

CD40 ligand

treatment

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

delta like canonical Notch ligand 4

ameliorates

RGD

NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931

G

heat shock protein family D (Hsp60) member 1

severity

RGD

NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662

G

Meis homeobox 2

mRNA,protein:decreased expression:aortic valve:

RGD

NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

prostaglandin-endoperoxide synthase 2

disease_progression

protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells

PMID:25722432 PMID:25722432

RGD:13207434, RGD:13207434

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

parathyroid hormone

disease_progression

protein:increased expression:serum (rat)

RGD

NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530

G

protein tyrosine phosphatase, non-receptor type 1

protein:increased expression:aortic valve (human)

RGD

NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504

G

solute carrier family 20 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,427,095...116,441,049
Ensembl chr 3:116,427,098...116,441,051

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

CARDIAC VALVULAR DYSPLASIA 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif, 19

ClinVar Annotator: match by term: Cardiac valvular dysplasia 2

PMID:25741868 PMID:31844321 PMID:32323311

NCBI chr18:52,346,448...52,531,245
Ensembl chr18:52,347,428...52,530,509

Congenital Heart Defects, Multiple Types, 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fms related receptor tyrosine kinase 4

ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7

PMID:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 More...

NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770

COX deficiency, infantile mitochondrial myopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

non-SMC condensin II complex, subunit H2

ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency

PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 More...

NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938

G

thymidine phosphorylase

ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency

PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874

developmental cardiac valvular defect

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

susceptibility

DNA:SNP:cds:p.R653Q(c.1958G>A)(human)

RGD

NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372

G

phospholipase D1

ClinVar Annotator: match by term: Cardiac valvular defect, developmental

PMID:16199547 PMID:25741868 PMID:27799408 PMID:28492532 PMID:33645542

NCBI chr 2:110,849,205...111,047,304
Ensembl chr 2:110,893,608...111,047,692

discrete subaortic stenosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fatty acid desaturase 2

treatment

associated with Left Ventricular Hypertrophy, Cardiac Fibrosis

RGD

NCBI chr 1:206,707,384...206,747,333
Ensembl chr 1:206,708,783...206,748,789

Ebstein anomaly

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 1A

OMIM:224700

NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616

G

cyclin-dependent kinase 8

ClinVar Annotator: match by term: Ebstein anomaly

NCBI chr12:8,737,198...8,805,026
Ensembl chr12:8,737,262...8,804,177

G

centrosomal protein 85-like

ClinVar Annotator: match by term: Ebstein anomaly

NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516

G

myosin heavy chain 7

ClinVar Annotator: match by term: Ebstein anomaly

PMID:21127202 PMID:23956225 PMID:24033266 PMID:25741868 PMID:27153395 More...

NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217

G

phospholamban

ClinVar Annotator: match by term: Ebstein anomaly

NCBI chr20:32,629,537...32,639,559

familial hypertrophic cardiomyopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 9

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356

G

acyl-CoA dehydrogenase, very long chain

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075

G

actin, alpha, cardiac muscle 1

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 More...

NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523

G

actinin alpha 2

ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:9536098 PMID:14567970 PMID:16199547 PMID:17097056 PMID:17576681 More...

NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622

G

ankyrin repeat domain 1

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 More...

NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919

G

BAG cochaperone 3

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:25741868 PMID:28492532 PMID:29970176 PMID:31395899 PMID:33874732

NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858

G

similar to human chromosome 2 open reading frame 49

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

NCBI chr 9:45,371,396...45,382,123
Ensembl chr 9:45,371,430...45,382,120

G

calmodulin 3

susceptibility

DNA:polymorphism:promoter:¿¿¿34T>A(human)

RGD

NCBI chr 1:77,590,668...77,597,776
Ensembl chr 1:77,589,230...77,592,207

G

calreticulin 3

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

NCBI chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015

G

caveolin 3

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:14672715 PMID:15580566

NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137

G

catechol-O-methyltransferase

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642

G

crystallin, alpha B

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More...

NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157

G

cysteine and glycine rich protein 3

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:12642359 PMID:14567970 PMID:16199547 PMID:16352453 PMID:20087448 More...

NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653

G

cardiotrophin 1

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:11058912 PMID:24033266 PMID:26084686 PMID:28492532

NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335

G

catenin alpha 3

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978

G

desmin

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:17221859 PMID:18653338 PMID:19151983 PMID:20171226 PMID:20423733 More...

NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699

G

discs large MAGUK scaffold protein 4

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153

G

dystrophin

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:24033266 PMID:25741868 PMID:28492532 PMID:28569743 PMID:31333075 More...

NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207

G

dynein, axonemal, assembly factor 3

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344

G

desmocollin 2

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:7971964 PMID:17033975 PMID:20031616 PMID:20031617 PMID:20197793 More...

NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392

G

desmoglein 2

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More...

NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156

G

desmoplakin

ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:18632414 PMID:19924139 PMID:20738328 PMID:23381804 PMID:23861362 More...

NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800

G

dystrobrevin, alpha

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

NCBI chr18:14,687,193...14,944,232
Ensembl chr18:14,587,852...14,944,261

G

emerin

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807

G

EYA transcriptional coactivator and phosphatase 4

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976

G

four and a half LIM domains 1

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:25246303 PMID:25965631 PMID:26857240 PMID:28492532 PMID:33673806 More...

NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928

G

four and a half LIM domains 2

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

NCBI chr 9:45,388,979...45,462,421
Ensembl chr 9:45,388,981...45,431,192

G

filamin C

ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:25741868 PMID:26555887 PMID:28492532 PMID:31513939 PMID:32112656

NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844

G

galactosidase, alpha

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:2171331 PMID:8738659 PMID:8878432 PMID:9100224 PMID:9395081 More...

NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664

G

glycerol-3-phosphate dehydrogenase 1 like

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More...

NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723

G

integrin-linked kinase

ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:9536098 PMID:11402068 PMID:11694518 PMID:14745274 PMID:16199547 More...

NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140

G

junctophilin 2

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:24033266 PMID:25500949 PMID:25741868 PMID:28492532 PMID:30235249 More...

NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904

G

junction plakoglobin

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:21859740 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27662471 More...

NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057

G

potassium voltage-gated channel subfamily E regulatory subunit 2

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:15368194 PMID:16487223 PMID:17310097 PMID:22581653 PMID:24681347 More...

NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043

G

potassium voltage-gated channel subfamily H member 2

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:11222472 PMID:11468227 PMID:11668638 PMID:14998624 PMID:20167303 More...

NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008

G

laminin subunit alpha 4

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30086531 More...

NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347

G

lysosomal-associated membrane protein 2

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:24033266 PMID:28492532 PMID:31638414

NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522

G

LIM domain binding 3

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:25741868 PMID:28492532 PMID:29247119 PMID:30847666 PMID:31333075 More...

NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532

G

lamin A/C

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:8621584 PMID:9536098 PMID:12057196 PMID:16407522 PMID:16585054 More...

NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423

G

MIB E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

NCBI chr18:1,802,519...1,926,988
Ensembl chr18:1,802,519...1,920,689

G

myosin binding protein C3

DNA:nonsense mutations: :multiple
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation, splice-site mutation, deletion:exon, intron:multiple
DNA:missense mutations: :p.V771M, p.V342D, p.A627V (human)
DNA:missense mutations, nonsense mutations: :multiple

ClinVar
CTD
RGD

PMID:203962 PMID:203979 PMID:208206 PMID:208208 PMID:739990 More...

RGD:1580239, RGD:1580237, RGD:1580234, RGD:1580238

NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405

G

myosin heavy chain 6

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

CTD
ClinVar
RGD

PMID:11815426 PMID:15998695 PMID:20215591 PMID:20458009 PMID:20656787 More...

NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720

G

myosin heavy chain 7

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:199274 PMID:546198 PMID:564455 PMID:1423936 PMID:1430197 More...

NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217

G

myosin light chain 2

DNA:missense mutations:exon:p.F18L, p.R58Q (human)
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, splice-site mutation:exon, intron:multiple

ClinVar
CTD
RGD

PMID:08673105 PMID:9241277 PMID:09535554 PMID:11102452 PMID:11748309 More...

RGD:1580240, RGD:1580241

NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983

G

myosin light chain 3

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:8673105 PMID:11174330 PMID:12021217 PMID:16754800 PMID:18409188 More...

NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816

G

myosin light chain 9

RGD

NCBI chr 3:145,281,943...145,288,333
Ensembl chr 3:145,281,937...145,288,333

G

myosin light chain kinase 2

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728

G

myomesin 1

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344

G

myozenin 2

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572

NCBI chr 2:211,141,463...211,168,187
Ensembl chr 2:211,141,463...211,168,221

G

myopalladin

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:18006477 PMID:25741868 PMID:26084686 PMID:28492532 PMID:28798025 More...

NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443

G

nebulette

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More...

NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210

G

nexilin (F actin binding protein)

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:16199547 PMID:20970104 PMID:24033266 PMID:24503780 PMID:25741868 More...

NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342

G

oxytocin receptor

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:14672715 PMID:15580566

NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674

G

PDZ and LIM domain 3

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657

G

plakophilin 2

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:19955750 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20857253 More...

NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730

G

PR/SET domain 16

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:24033266 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572

NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601

G

protein kinase AMP-activated non-catalytic subunit gamma 2

ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:10355918 PMID:10820940 PMID:11407343 PMID:11407351 PMID:11586962 More...

NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142

G

Raf-1 proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:12077328 PMID:17603482 PMID:17603483 PMID:17603486 PMID:17603487 More...

NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317

G

RNA binding motif protein 20

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:25163546 PMID:25351510 PMID:25741868 PMID:28492532 PMID:30847666 More...

NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060

G

ryanodine receptor 2

ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:12459180 PMID:19216760 PMID:19926015 PMID:20132818 PMID:22787013 More...

NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:8661019 PMID:10690282 PMID:10727653 PMID:11823453 PMID:12639704 More...

NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769

G

SHOC2 leucine-rich repeat scaffold protein

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337

G

SOS Ras/Rac guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:24033266 PMID:27763634 PMID:28492532

NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107

G

TATA-box binding protein associated factor 10

ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:9536098 PMID:11402068 PMID:11694518 PMID:14745274 PMID:16199547 More...

NCBI chr 1:160,095,108...160,096,401
Ensembl chr 1:160,095,108...160,096,376

G

tafazzin, phospholipid-lysophospholipid transacylase

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001

G

titin-cap

ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:10655062 PMID:15582318 PMID:16352453 PMID:16911908 PMID:17097056 More...

NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887

G

transmembrane protein 43

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:25741868 PMID:26214305 PMID:28492532 PMID:33552729

NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825

G

thymopoietin

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727

G

troponin I3, cardiac type

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10806205 More...

NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580

G

troponin T1, slow skeletal type

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721

G

troponin T2, cardiac type

ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:209262 PMID:541918 PMID:2946667 PMID:7898523 PMID:8205619 More...

NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388

G

tropomyosin 1

ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More...

NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802

G

tripartite motif containing 63

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:22821932 PMID:24436435 PMID:25741868 PMID:25801283 PMID:28492532 More...

NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322

G

titin

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:11846417 PMID:18414213 PMID:18948003 PMID:23396983 PMID:23861362 More...

NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741

G

transthyretin

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:25741868 PMID:26537620 PMID:28492532 PMID:30683924 PMID:31554435

NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008

G

thioredoxin reductase 2

ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy

PMID:25741868 PMID:28492532

NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156

G

vinculin

ClinVar Annotator: match by term: Hereditary ventricular hypertrophy

PMID:20474083 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More...

NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606

FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calreticulin 3

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 19

PMID:23861362 PMID:25741868 PMID:28492532 PMID:29988065 PMID:30847666

NCBI chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015

FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 30, ATRIAL

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

corin, serine peptidase

ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 30, atrial

PMID:25741868 PMID:37913506

NCBI chr14:35,680,601...35,910,703
Ensembl chr14:35,681,304...35,909,503

Forney Robinson Pascoe Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitogen activated protein kinase kinase kinase 7

CTD Direct Evidence: marker/mechanism

NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597

Frank-Ter Haar syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SH3 and PX domains 2B

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BORRONE DERMATOCARDIOSKELETAL SYNDROME | ClinVar Annotator: match by term: Frank-Ter Haar syndrome | ClinVar Annotator: match by term: Megalocornea, multiple skeletal anomalies, and developmental delay

OMIM
CTD
ClinVar

PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 More...

NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170

Hypertelorism and Tetralogy of Fallot

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box C1

ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot

NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803

hypertrophic cardiomyopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 9

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:17245405 PMID:25741868 PMID:28492532

NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356

G

acetyl-CoA carboxylase beta

RGD

NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655

G

angiotensin I converting enzyme

no_association

DNA:insertion/deletion:intron

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

angiotensin converting enzyme 2

mRNA, protein:increased expression:myocardium (human)

RGD

NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977

G

acid phosphatase 2, lysosomal

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 3:77,175,022...77,185,180
Ensembl chr 3:77,175,895...77,185,680

G

actin, alpha, cardiac muscle 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:676951 PMID:2255271 PMID:9536098 PMID:9563954 PMID:10494087 More...

NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523

G

actinin alpha 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:17097056 PMID:20022194 PMID:23299917 PMID:23861362 PMID:24033266 More...

NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622

G

adhesion G protein-coupled receptor L4

protein:decreased expression:heart:

RGD

NCBI chr 2:240,354,909...240,457,231
Ensembl chr 2:240,354,941...240,457,225

G

adrenomedullin

associated with Diabetes Mellitus, Experimental;protein:decreased expression:cardiomyocyte

RGD

NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654

G

angiotensinogen

no_association
susceptibility

DNA:polymorphisms: :p.T174M, p.M235T (human)
DNA:polymorphism:cds:p.M235T(human)

RGD

PMID:9270088 PMID:9023164

RGD:1566491, RGD:13432163

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

aryl hydrocarbon receptor

RGD

NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568

G

A-kinase anchoring protein 6

RGD

NCBI chr 6:70,184,101...70,624,369
Ensembl chr 6:70,184,175...70,619,738

G

A-kinase anchoring protein 9

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:23861362 PMID:25741868 PMID:28492532

NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606

G

alpha-kinase 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:21441111 PMID:24033266 PMID:25741868 PMID:26846950 PMID:27106955 More...

NCBI chr 1:135,014,455...135,062,294
Ensembl chr 1:135,014,499...135,062,302

G

ankyrin 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:12571597 PMID:15178757 PMID:17242276 PMID:22581653 PMID:23174487 More...

NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923

G

ankyrin repeat domain 1

DNA:missense mutations:exon:p.P52A, p.T123M, p.I280V (human)
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More...

NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919

G

aph-1 homolog B, gamma secretase subunit

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 8:67,429,198...67,454,735
Ensembl chr 8:67,429,198...67,450,243

G

ADP-ribosylation factor GTPase activating protein 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 3:77,236,305...77,248,445
Ensembl chr 3:77,236,322...77,248,455

G

BAG cochaperone 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858

G

BCL2, apoptosis regulator

protein:decreased expression:heart
protein:decreased expression:cardiomyocyte

RGD

PMID:25209900 PMID:25820375

RGD:11558015, RGD:13792650

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

beclin 1

protein:increased expression:heart

RGD

NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:25741868 PMID:28492532

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

C2 calcium-dependent domain containing 4A

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 8:68,467,017...68,469,781
Ensembl chr 8:68,466,664...68,470,031

G

C2 calcium-dependent domain containing 4B

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 8:68,372,793...68,396,477
Ensembl chr 8:68,384,847...68,396,328

G

calcium voltage-gated channel subunit alpha1 C

ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:20817017 PMID:22840528 PMID:23861362 PMID:24439875 PMID:25260352 More...

NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648

G

calcium voltage-gated channel auxiliary subunit beta 2

severity

DNA:missense mutation:cds:c.1598C>T (p.S533L)(human)
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:23861362 PMID:25741868 PMID:28492532 PMID:28614222

NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106

G

calreticulin 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:17655857 PMID:23861362 PMID:25741868 PMID:28492532 PMID:31513939

NCBI chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015

G

calpain 2

protein:increased expression, activity:nucleus

RGD

NCBI chr13:94,150,244...94,200,969
Ensembl chr13:94,150,240...94,200,969

G

carbonic anhydrase 12

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440

G

caspase 3

associated with Diabetes Mellitus, Non-Insulin-Dependent

RGD

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

G

calcium-sensing receptor

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 More...

NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811

G

caveolin 1

NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

G

caveolin 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

ClinVar
MouseDO

NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137

G

CD36 molecule

mRNA:increased expression:heart

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

cadherin, EGF LAG seven-pass G-type receptor 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354

G

centrosomal protein 85-like

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More...

NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516

G

chymase 1

susceptibility

DNA:snp:5' utr:g.-1903G>A rs1800875 (human)

RGD

NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233

G

collagen type I alpha 1 chain

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:21667357 PMID:25741868 PMID:27519266 PMID:28492532 PMID:30715774

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

cytochrome c oxidase assembly homolog COX15

RGD

NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261

G

crystallin, alpha B

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More...

NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157

G

citrate synthase

RGD

NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421

G

cysteine and glycine rich protein 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

ClinVar
MouseDO
RGD

PMID:8994428 PMID:9039266 PMID:12507422 PMID:12642359 PMID:14567970 More...

NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653

G

centriolar satellite-associated tubulin polyglutamylase complex regulator 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 3:77,247,393...77,416,307
Ensembl chr 3:77,248,375...77,416,274

G

cardiotrophin 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
mRNA:increased expression:heatt (rat)

PMID:24033266 PMID:25741868 PMID:28492532 PMID:24247421

NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335

G

catenin beta 1

treatment

protein:increased phosphorylation:myocyte:

RGD

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

cathepsin L

RGD

NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548

G

cytochrome P450, family 1, subfamily a, polypeptide 1

mRNA:increased expression:heatt (rat)
mRNA, protein:increased expression:heart (rat)

RGD

PMID:24247421 PMID:19889059

RGD:401793741, RGD:401794453

NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

G

cytochrome P450, family 1, subfamily b, polypeptide 1

mRNA, protein:increased expression:heart (rat)

RGD

NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917

G

cytochrome P450, family 2, subfamily e, polypeptide 1

mRNA, protein:increased expression:heart (rat)

RGD

NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023

G

cytochrome P450, family 4, subfamily f, polypeptide 4

mRNA:increased expression:heart (rat)

RGD

NCBI chr 7:11,717,208...11,733,507
Ensembl chr 7:11,717,208...11,733,506

G

cytochrome P450, family 4, subfamily f, polypeptide 5

mRNA:increased expression:heart (rat)

RGD

NCBI chr 7:11,544,040...11,558,982
Ensembl chr 7:11,544,082...11,558,978

G

damage specific DNA binding protein 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631

G

desmin

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:25741868 PMID:28492532 PMID:32528171 PMID:10591032

NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699

G

dystrophin

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:19937601 PMID:19959795 PMID:24033266 PMID:25741868 PMID:26467025 More...

NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207

G

dynein, axonemal, assembly factor 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344

G

DNA methyltransferase 1

protein:increased expression:cardiac muscle tissue of interventricular septum (human)

RGD

NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659

G

desmocollin 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:20031617 PMID:20152563 PMID:20400443 PMID:20716751 PMID:20857253 More...

NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392

G

desmoglein 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:20400443 PMID:21220045 PMID:23299917 PMID:23861362 PMID:24033266 More...

NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156

G

desmoplakin

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:18632414 PMID:19863551 PMID:21062920 PMID:21397041 PMID:21606390 More...

NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800

G

dystrobrevin, alpha

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:23861362 PMID:25741868 PMID:28492532 PMID:30086531 PMID:31568572

NCBI chr18:14,687,193...14,944,232
Ensembl chr18:14,587,852...14,944,261

G

endothelin 1

associated with Diabetes Mellitus, Experimental; protein:increased secretion:serum (rat)

RGD

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

emerin

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807

G

elastin microfibril interfacer 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:23143600 PMID:25820463 PMID:28492532

NCBI chr 9:111,160,708...111,220,463
Ensembl chr 9:111,160,712...111,220,352

G

epoxide hydrolase 2

mRNA, protein:increased expression:heart (rat)

RGD

NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615

G

electron transfer flavoprotein dehydrogenase

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:25741868 PMID:28492532

NCBI chr 2:164,740,547...164,762,754
Ensembl chr 2:164,729,749...164,762,745

G

EYA transcriptional coactivator and phosphatase 4

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976

G

fatty acid synthase

CTD Direct Evidence: marker/mechanism

NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261

G

F-box and leucine-rich repeat protein 22

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 8:67,069,998...67,076,685
Ensembl chr 8:67,069,998...67,076,685

G

four and a half LIM domains 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928

G

formin homology 2 domain containing 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr18:15,993,079...16,425,796
Ensembl chr18:15,993,324...16,425,796

G

fukutin related protein

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:11741828 PMID:16344347 PMID:16368217 PMID:17994539 PMID:18832576 More...

NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992

G

fukutin

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:18414213 PMID:22037554 PMID:25741868 PMID:28492532

NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409

G

filamin C

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:25741868 PMID:26467025 PMID:26555887 PMID:28492532 PMID:31513939 More...

NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844

G

frataxin

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:15936968 PMID:25741868

NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540

G

alpha glucosidase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:11328962 PMID:22644586 PMID:25741868 PMID:28492532 PMID:31228295

NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836

G

gap junction protein, alpha 5

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952

G

galactosidase, alpha

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:7504405 PMID:7911050 PMID:8395937 PMID:8411052 PMID:8878432 More...

NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664

G

glycerol-3-phosphate dehydrogenase 1 like

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More...

NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723

G

G protein-coupled receptor 149

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 2:146,909,710...146,981,924
Ensembl chr 2:146,909,713...146,981,167

G

GTP binding protein 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:25434004 PMID:25741868 PMID:30426380 PMID:34276756 PMID:35413567

NCBI chr16:18,175,766...18,180,857
Ensembl chr16:18,175,766...18,180,857

G

hyperpolarization activated cyclic nucleotide-gated potassium channel 4

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:23861362 PMID:25145518 PMID:25145519 PMID:25642760 PMID:25741868 More...

NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639

G

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312

G

hes-related family bHLH transcription factor with YRPW motif 2

CTD Direct Evidence: therapeutic

NCBI chr 1:26,822,131...26,832,218
Ensembl chr 1:26,822,131...26,832,218

G

heme oxygenase 1

protein:increased activity:heart (rat)

RGD

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743

G

heat shock protein family D (Hsp60) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662

G

5-hydroxytryptamine receptor 2B

NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108

G

intercellular adhesion molecule 1

associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle (rat)

RGD

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

isocitrate dehydrogenase (NADP(+)) 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

insulin-like growth factor 1

severity

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

insulin-like growth factor 1 receptor

associated with Diabetes Mellitus;protein:decreased expression:placenta

RGD

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

insulin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775

G

interferon regulatory factor 9

exacerbates
ameliorates

RGD

PMID:24144649 PMID:24144649

RGD:125093743, RGD:125093743

NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236

G

junctophilin 2

disease_progression

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
protein:decreased expression:heart

PMID:9536098 PMID:17476457 PMID:17509612 PMID:17576681 PMID:22584458 More...

RGD:1580652, RGD:6480270

NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904

G

junction plakoglobin

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057

G

lysine acetyltransferase 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,524,355...182,536,638
Ensembl chr 1:182,515,327...182,536,633

G

potassium voltage-gated channel subfamily E regulatory subunit 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:24217263 PMID:28492532

NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901

G

potassium voltage-gated channel subfamily E regulatory subunit 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:10220144 PMID:15368194 PMID:15840476 PMID:18006462 PMID:20817017 More...

NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043

G

potassium voltage-gated channel subfamily H member 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:19716085 PMID:22581653 PMID:24033266 PMID:25637381 PMID:25741868 More...

NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008

G

potassium inwardly-rectifying channel, subfamily J, member 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:25741868 PMID:28492532

NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445

G

potassium inwardly-rectifying channel, subfamily J, member 5

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:25741868 PMID:28492532

NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518

G

potassium inwardly-rectifying channel, subfamily J, member 8

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:19120683 PMID:20558321 PMID:22056721 PMID:22365152 PMID:22562657 More...

NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603

G

potassium voltage-gated channel subfamily Q member 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:19716085 PMID:22581653 PMID:23396983 PMID:24033266 PMID:24055113 More...

NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669

G

kelch-like family member 24

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr11:80,843,621...80,877,649
Ensembl chr11:80,846,755...80,877,636

G

kelch-like family member 41

RGD

NCBI chr 3:54,434,291...54,447,415
Ensembl chr 3:54,434,234...54,449,222

G

lactamase, beta

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 8:67,571,504...67,587,592
Ensembl chr 8:67,571,500...67,587,539

G

laminin subunit alpha 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:25741868 PMID:28492532

NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530

G

laminin subunit alpha 4

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347

G

lysosomal-associated membrane protein 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
in hemizygote mutant male (LAMP2y/-)

PMID:9536098 PMID:15673802 PMID:16199547 PMID:16217705 PMID:17576681 More...

RGD:1580822, RGD:13703117, RGD:1580826

NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522

G

lysosomal-associated membrane protein 2; TALEN induced mutant1

in hemizygote mutant male (LAMP2y/-)

RGD

G

LIM domain binding 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:17235623 PMID:17394203 PMID:17438622 PMID:20474083 PMID:23299917 More...

NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532

G

lamin A/C

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:2338570 PMID:2753225 PMID:23183350 PMID:23328570 PMID:24033266 More...

NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423

G

lipin 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:23143600 PMID:25820463 PMID:28492532

NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193

G

LDL receptor related protein 4

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593

G

leucine zipper like post translational regulator 1

DNA:missense mutation:c.1394C>T p.A465V, c.1330G>A p.D444N (human)

RGD

NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633

G

MAP-kinase activating death domain

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701

G

microtubule-associated protein 1 light chain 3 alpha

protein:increased expression:heart

RGD

NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670

G

mitogen activated protein kinase kinase 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243

G

mitogen activated protein kinase kinase kinase 7

treatment

protein:increased phosphorylation:heart (human)

RGD

PMID:27249171 PMID:27249171

RGD:155646134, RGD:155646134

NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597

G

MBL associated serine protease 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974

G

microRNA 208a

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr15:28,425,570...28,425,652

G

microRNA 208b

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:25741868 PMID:27247418 PMID:28492532 PMID:29121657 PMID:31638223

NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749

G

microRNA 451a

RNA:decreased expression:heart

RGD

NCBI chr10:62,961,520...62,961,591
Ensembl chr10:62,961,520...62,961,591

G

matrix metallopeptidase 1

RGD

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 2

protein:increased expression:plasma

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

protein:increased expression:plasma

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

myotrophin

NCBI chr 4:64,159,273...64,186,686
Ensembl chr 4:64,157,641...64,186,724

G

myosin binding protein C3

DNA:mutations: :multiple
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:exon:18443A>G (human)

ClinVar
CTD
RGD

PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:208208 More...

RGD:1580235, RGD:1580233

NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405

G

myosin binding protein H-like

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 2:196,005,297...196,018,826
Ensembl chr 2:196,005,325...196,018,824

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

myosin heavy chain 6

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:15998695 PMID:20656787 PMID:22011241 PMID:23861362 PMID:24033266 More...

NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720

G

myosin heavy chain 7

treatment
severity

DNA:missense mutations: :multiple
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
protein:increased expression:heart (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.R719W (human)
DNA:deletion, missense mutations: :multiple

ClinVar
CTD
RGD

PMID:1975 PMID:177788 PMID:199274 PMID:204029 PMID:319790 More...

RGD:1580926, RGD:155646134, RGD:11065270, RGD:1580929

NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217

G

myosin heavy chain 7B

DNA:polymorphism:CDS:multiple (human)
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:25741868 PMID:32207065 PMID:32207065

RGD:126925946, RGD:126925946

NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084

G

myosin heavy chain 7B; CRISPR/Cas9 induced mutant 1, Blar

RGD

G

myosin light chain 12A

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:23143600 PMID:25820463 PMID:28492532

NCBI chr 9:110,891,970...110,899,655
Ensembl chr 9:110,873,959...110,916,580

G

myosin light chain 12B

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:23143600 PMID:25820463 PMID:28492532

NCBI chr 9:110,873,855...110,888,187

G

myosin light chain 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:203862 PMID:08673105 PMID:9527842 PMID:09535554 PMID:9536098 More...

NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983

G

myosin light chain 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:6211078 PMID:08673105 PMID:9536098 PMID:9927691 PMID:10948063 More...

NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816

G

myosin, light chain 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:89,449,456...89,485,365
Ensembl chr10:89,449,443...89,485,363

G

myosin light chain 7

CTD Direct Evidence: marker/mechanism

NCBI chr14:80,780,684...80,783,259
Ensembl chr14:80,779,776...80,783,244

G

myosin light chain kinase 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31513939

NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728

G

myomesin 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21256114 PMID:23143600 More...

NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344

G

myozenin 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:9536098 PMID:16199547 PMID:17347475 PMID:17434779 PMID:17576681 More...

NCBI chr 2:211,141,463...211,168,187
Ensembl chr 2:211,141,463...211,168,221

G

myopalladin

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:18006477 PMID:20801532 PMID:22286171 PMID:23861362 PMID:24033266 More...

NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443

G

NADH:ubiquinone oxidoreductase subunit A13

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:25741868 PMID:32722639

NCBI chr16:19,526,633...19,533,567
Ensembl chr16:19,526,565...19,535,726

G

NADH:ubiquinone oxidoreductase core subunit S1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893

G

NADH:ubiquinone oxidoreductase core subunit S2

susceptibility

associated with Mitochondrial Encephalomyopathies;DNA:missense mutations: :p.R228Q, p.P229Q, p.S413P (human)

RGD

NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420

G

nebulette

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:20951326 PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 More...

NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210

G

nexilin (F actin binding protein)

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:19881492 PMID:24033266 PMID:25163546 PMID:25741868 PMID:26659360 More...

NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342

G

NK2 homeobox 5

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:25741868 PMID:28492532

NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934

G

NME/NM23 nucleoside diphosphate kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408

G

nicotinamide nucleotide adenylyltransferase 2

protein:decreased expression, decreased activity:heart

RGD

NCBI chr13:65,105,950...65,277,350
Ensembl chr13:65,105,950...65,278,484

G

nucleophosmin 1

protein:increased expression:cardiomyocyte:

RGD

NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645

G

natriuretic peptide A

treatment

protein:decreased expression:cardiomyocyte
mRNA:increased expression:heart (rat)
mRNA:increased expression:heatt (rat)
protein:increased expression:heart (human)

RGD

PMID:25820375 PMID:19889059 PMID:24247421 PMID:27249171

RGD:13792650, RGD:401794453, RGD:401793741, RGD:155646134

NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351

G

natriuretic peptide B

mRNA:increased expression:heatt (rat)
mRNA:increased expression:heart (rat)

RGD

PMID:24247421 PMID:19889059

RGD:401793741, RGD:401794453

NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168

G

nuclear receptor subfamily 1, group H, member 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641

G

oxytocin receptor

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674

G

protein kinase C and casein kinase substrate in neurons 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 3:77,227,187...77,235,820
Ensembl chr 3:77,222,710...77,235,811

G

PDZ and LIM domain 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:17254821 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657

G

peptidase D

NCBI chr 1:87,536,650...87,681,233
Ensembl chr 1:87,536,609...87,681,231

G

polycystin 1, transient receptor potential channel interacting

NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128

G

plakophilin 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:16567567 PMID:17556197 PMID:19863551 PMID:19955750 PMID:20525856 More...

NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730

G

phospholamban

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More...

NCBI chr20:32,629,537...32,639,559

G

DNA polymerase gamma, catalytic subunit

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:1539879 PMID:7847370 PMID:11555352 PMID:12210792 PMID:12297582 More...

NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

PMID:2536513 PMID:2831920 PMID:2853496 PMID:8381257 PMID:8928979

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

G

protein phosphatase 6, regulatory subunit 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 1:69,190,856...69,217,598
Ensembl chr 1:69,189,822...69,216,272

G

protein kinase AMP-activated non-catalytic subunit gamma 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:762819 PMID:2526523 PMID:9536098 PMID:10355918 PMID:10368461 More...

NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142

G

proteasome 26S subunit, ATPase 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358

G

protein tyrosine phosphatase, non-receptor type 11

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

ClinVar
MouseDO
RGD

PMID:11992261 PMID:12058348 PMID:12960218 PMID:14644997 PMID:14961557 More...

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

protein tyrosine phosphatase, receptor type, H

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 1:69,243,704...69,276,294
Ensembl chr 1:69,242,321...69,285,077

G

RAB8B, member RAS oncogene family

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 8:67,458,921...67,536,466
Ensembl chr 8:67,458,923...67,536,384

G

Raf-1 proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

PMID:17603482 PMID:17603483

NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317

G

receptor-associated protein of the synapse

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373

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Ras association domain family member 1

CTD Direct Evidence: therapeutic

NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164

G

RNA binding motif protein 20

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:22004663 PMID:24033266 PMID:24503780 PMID:25637381 PMID:25741868 More...

NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060

G

resistin

DNA, protein:SNP, increased expression:promoter, serum:-420G>C (rs1862513) (human)

RGD

NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620

G

ring finger protein 123

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 8:108,740,176...108,768,177
Ensembl chr 8:108,739,620...108,767,675

G

ribosomal protein S27-like

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 8:67,562,483...67,567,418
Ensembl chr 8:67,562,483...67,567,418

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ryanodine receptor 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:12459180 PMID:18752142 PMID:19926015 PMID:22787013 PMID:23022705 More...

NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:10807545 PMID:15689442 PMID:15851227 PMID:16155735 PMID:17227473 More...

NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769

G

sarcoglycan, alpha

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:25741868 PMID:28492532

NCBI chr10:79,904,698...79,922,808
Ensembl chr10:79,908,738...79,922,813

G

sarcoglycan, beta

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr14:34,563,614...34,578,614
Ensembl chr14:34,563,608...34,578,583

G

solute carrier family 25 member 4

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More...

NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733

G

solute carrier family 30 member 5

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:25741868 PMID:33547425

NCBI chr 2:31,945,745...31,975,969
Ensembl chr 2:31,945,729...31,975,934

G

solute carrier family 39 member 13

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:19574547 PMID:28492532 PMID:30924982

NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226

G

solute carrier family 9 member A1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624

G

structural maintenance of chromosomes flexible hinge domain containing 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:23143600 PMID:25820463 PMID:28492532

NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665

G

SOS Ras/Rac guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 More...

NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107

G

Spi-1 proto-oncogene

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:19574547 PMID:28492532 PMID:30924982

NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393

G

synaptotagmin 5

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 1:69,277,351...69,285,071
Ensembl chr 1:69,277,351...69,285,067

G

tubulin folding cofactor A

CTD Direct Evidence: marker/mechanism

NCBI chr 2:26,011,714...26,065,909
Ensembl chr 2:26,011,795...26,065,907

G

titin-cap

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:16352453 PMID:17097056 PMID:19035361 PMID:20474083 PMID:22194935 More...

NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887

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transforming growth factor, beta 1

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

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transforming growth factor, beta 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:23861362 PMID:25637381 PMID:25741868 PMID:25835445 PMID:28492532 More...

NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564

G

TGFB-induced factor homeobox 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:23143600 PMID:25820463 PMID:28492532

NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802

G

TIMP metallopeptidase inhibitor 2

RGD

NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611

G

talin 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 8:67,830,920...68,252,240
Ensembl chr 8:67,834,326...68,252,219

G

transmembrane protein 43

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:18313022 PMID:19467449 PMID:20010364 PMID:21214875 PMID:22458570 More...

NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825

G

transmembrane protein 86B

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 1:69,218,109...69,220,474
Ensembl chr 1:69,218,608...69,220,124

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thymopoietin

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:24033266 PMID:25741868 PMID:28492532 PMID:31983221

NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727

G

troponin C1, slow skeletal and cardiac type

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:18572189 PMID:19439414 PMID:20459070 PMID:21056975 PMID:22489623 More...

NCBI chr16:6,400,801...6,405,634
Ensembl chr16:6,402,171...6,405,634

G

troponin I3, cardiac type

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:3144325 PMID:3349559 PMID:7592712 PMID:9241277 PMID:9536098 More...

NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580

G

troponin T1, slow skeletal type

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721

G

troponin T2, cardiac type

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:209262 PMID:541918 PMID:2003160 PMID:2946667 PMID:7898523 More...

NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388

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tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

tropomyosin 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More...

NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802

G

TNF receptor associated factor 6

treatment

protein:increased expression:heart (human)

RGD

NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507

G

tripartite motif containing 63

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:22821932 PMID:24436435 PMID:25741868 PMID:25801283 PMID:28492532 More...

NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322

G

transient receptor potential cation channel, subfamily M, member 4

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:23382873 PMID:25741868 PMID:28492532

NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532

G

titin

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:9536098 PMID:17344846 PMID:17576681 PMID:18414213 PMID:23396983 More...

NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741

G

transthyretin

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:2349941 PMID:7868124 PMID:14640030 PMID:20840742 PMID:25741868 More...

NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008

G

urocortin

RGD

NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950

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ubiquinol-cytochrome c reductase core protein 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480

G

ubiquitin specific peptidase 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 8:67,078,249...67,154,109
Ensembl chr 8:67,079,927...67,154,111

G

vinculin

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:16712796 PMID:23299917 PMID:24033266 PMID:24503780 PMID:25741868 More...

NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606

G

vacuolar protein sorting 13 homolog C

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy

NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895

G

xin actin-binding repeat containing 1

NCBI chr 8:119,744,778...119,757,547
Ensembl chr 8:119,747,419...119,757,349

G

YY1 transcription factor

RGD

NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747

hypertrophic cardiomyopathy 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin, alpha, cardiac muscle 1

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 More...

NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523

G

actinin alpha 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:9536098 PMID:14567970 PMID:16199547 PMID:17097056 PMID:17576681 More...

NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622

G

ankyrin repeat domain 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:16199547 PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 More...

NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919

G

BAG cochaperone 3

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:25741868 PMID:28492532 PMID:29970176 PMID:31395899 PMID:33874732

NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858

G

calcium voltage-gated channel subunit alpha1 C

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1

PMID:25741868 PMID:26253506 PMID:28492532 PMID:30025578 PMID:30172029 More...

NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648

G

calreticulin 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:9536098 PMID:16199547 PMID:17576681 PMID:17655857 PMID:23861362 More...

NCBI chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015

G

caveolin 3

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19

OMIM
ClinVar
CTD

PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 PMID:11251997 More...

NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137

G

crystallin, alpha B

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More...

NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157

G

cysteine and glycine rich protein 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:16352453 PMID:17097056 PMID:18505755 PMID:23299917 PMID:23396983 More...

NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653

G

desmin

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:17221859 PMID:18653338 PMID:19151983 PMID:20171226 PMID:20423733 More...

NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699

G

dystrophin

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:24033266 PMID:25741868 PMID:28492532 PMID:28569743 PMID:31333075 More...

NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207

G

desmocollin 2

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:7971964 PMID:17033975 PMID:20031616 PMID:20031617 PMID:20197793 More...

NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392

G

desmoglein 2

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More...

NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156

G

desmoplakin

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:18632414 PMID:19924139 PMID:20738328 PMID:23381804 PMID:23861362 More...

NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800

G

four and a half LIM domains 1

ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:25246303 PMID:25965631 PMID:26857240 PMID:28492532 PMID:33673806 More...

NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928

G

filamin C

ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:25741868 PMID:26555887 PMID:28492532 PMID:31513939 PMID:32112656

NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844

G

galactosidase, alpha

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:2171331 PMID:8738659 PMID:8878432 PMID:9100224 PMID:9395081 More...

NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664

G

glycerol-3-phosphate dehydrogenase 1 like

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More...

NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723

G

integrin-linked kinase

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:24033266 PMID:25741868 PMID:28492532 PMID:29915097 PMID:33874732

NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140

G

junctophilin 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:17509612 PMID:22389502 PMID:24033266 PMID:25500949 PMID:25741868 More...

NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904

G

junction plakoglobin

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:21859740 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27662471 More...

NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057

G

potassium voltage-gated channel subfamily E regulatory subunit 2

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:15368194 PMID:16487223 PMID:17310097 PMID:22581653 PMID:24681347 More...

NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043

G

laminin subunit alpha 4

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:23861362 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 More...

NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347

G

lysosomal-associated membrane protein 2

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:28492532 PMID:31638414

NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522

G

LIM domain binding 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:25741868 PMID:28492532 PMID:29247119 PMID:30847666 PMID:32746448

NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532

G

lamin A/C

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:8621584 PMID:9536098 PMID:10580070 PMID:16407522 PMID:16585054 More...

NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1

NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633

G

microRNA 208b

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1

PMID:25741868 PMID:27247418 PMID:28492532 PMID:29121657 PMID:31638223

NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749

G

myosin binding protein C3

ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:203962 PMID:203979 PMID:208206 PMID:208208 PMID:739990 More...

NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405

G

myosin heavy chain 6

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:7731997 PMID:9172070 PMID:9536098 PMID:11815426 PMID:15998695 More...

NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720

G

myosin heavy chain 7

ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

OMIM
ClinVar
CTD

PMID:1975 PMID:199274 PMID:204029 PMID:546198 PMID:564455 More...

NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217

G

myosin heavy chain 7B

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1

NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084

G

myosin light chain 2

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:08673105 PMID:09535554 PMID:11102452 PMID:11748309 PMID:12404107 More...

NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983

G

myosin light chain 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:8673105 PMID:11174330 PMID:12021217 PMID:16754800 PMID:18409188 More...

NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816

G

myosin light chain kinase 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

OMIM
CTD
ClinVar

PMID:9536098 PMID:11733062 PMID:17576681 PMID:22995991 PMID:23299917 More...

NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728

G

myomesin 1

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344

G

myozenin 2

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:25741868 PMID:28492532

NCBI chr 2:211,141,463...211,168,187
Ensembl chr 2:211,141,463...211,168,221

G

myopalladin

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:25741868 PMID:26084686 PMID:28492532 PMID:28798025 PMID:30847666

NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443

G

nebulette

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More...

NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210

G

nexilin (F actin binding protein)

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:16199547 PMID:20970104 PMID:24033266 PMID:24503780 PMID:25741868 More...

NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342

G

oxytocin receptor

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More...

NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674

G

plakophilin 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:19955750 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20857253 More...

NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730

G

protein kinase AMP-activated non-catalytic subunit gamma 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:10355918 PMID:10820940 PMID:11407343 PMID:11407351 PMID:11586962 More...

NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142

G

Raf-1 proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:17603482 PMID:17603483 PMID:17603486 PMID:17603487 PMID:17603489 More...

NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317

G

RNA binding motif protein 20

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:25163546 PMID:25351510 PMID:25741868 PMID:28492532 PMID:30847666 More...

NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060

G

ryanodine receptor 2

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:12459180 PMID:19216760 PMID:19926015 PMID:20132818 PMID:22787013 More...

NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:8661019 PMID:10690282 PMID:10727653 PMID:11823453 PMID:12639704 More...

NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769

G

sarcoglycan, delta

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1

PMID:23861362 PMID:24033266 PMID:25741868 PMID:26720722 PMID:28492532

NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840

G

SOS Ras/Rac guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:24033266 PMID:27763634 PMID:28492532

NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107

G

ssu-2 homolog

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1

PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More...

NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735

G

TATA-box binding protein associated factor 10

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:25741868 PMID:28492532 PMID:29915097 PMID:33874732

NCBI chr 1:160,095,108...160,096,401
Ensembl chr 1:160,095,108...160,096,376

G

titin-cap

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:10655062 PMID:15582318 PMID:16352453 PMID:16911908 PMID:17097056 More...

NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887

G

transmembrane protein 43

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:25741868 PMID:26214305 PMID:28492532 PMID:33552729

NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825

G

troponin I3, cardiac type

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10806205 More...

NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580

G

troponin T2, cardiac type

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:209262 PMID:541918 PMID:2946667 PMID:7898523 PMID:8205619 More...

NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388

G

tropomyosin 1

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More...

NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802

G

titin

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:18414213 PMID:18948003 PMID:23396983 PMID:23861362 PMID:23975875 More...

NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741

G

transthyretin

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:1355416 PMID:1850190 PMID:1997217 PMID:2174830 PMID:2590199 More...

NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008

G

thioredoxin reductase 2

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156

G

vinculin

ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis

PMID:20474083 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More...

NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606

hypertrophic cardiomyopathy 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin light chain 2

ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2 | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 10 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:203862 PMID:678511 PMID:4942892 PMID:08673105 PMID:09535554 More...

NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983

hypertrophic cardiomyopathy 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin, alpha, cardiac muscle 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:676951 PMID:2255271 PMID:9536098 PMID:9563954 PMID:10330430 More...

NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523

G

gap junction protein, delta 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11

PMID:18458017 PMID:27125413 PMID:28492532

NCBI chr 3:100,771,450...100,776,134
Ensembl chr 3:100,772,062...100,775,061

G

lysophosphatidylcholine acyltransferase 4

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11

PMID:18458017 PMID:27125413 PMID:28492532

NCBI chr 3:99,044,729...99,052,963
Ensembl chr 3:99,044,729...99,052,875

G

NOP10 ribonucleoprotein

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11

PMID:18458017 PMID:27125413 PMID:28492532

NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942

G

NUT midline carcinoma, family member 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11

PMID:18458017 PMID:27125413 PMID:28492532

NCBI chr 3:99,053,510...99,064,311
Ensembl chr 3:99,053,510...99,064,311

G

solute carrier family 12, member 6

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11

PMID:18458017 PMID:27125413 PMID:28492532

NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258

hypertrophic cardiomyopathy 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cysteine and glycine rich protein 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12
OMIM:612124

OMIM
ClinVar
MouseDO

PMID:8994428 PMID:9039266 PMID:9536098 PMID:12507422 PMID:12642359 More...

NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653

G

immunoglobulin superfamily member 22

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12

PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More...

NCBI chr 1:97,601,938...97,618,144

G

lactate dehydrogenase A

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12

PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More...

NCBI chr 1:97,371,823...97,381,247
Ensembl chr 1:97,366,021...97,433,472

G

lactate dehydrogenase C

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12

PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More...

NCBI chr 1:97,385,984...97,403,382
Ensembl chr 1:97,382,379...97,403,378

G

MAS-related GPR, member B2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12

PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More...

NCBI chr 1:98,401,140...98,403,162
Ensembl chr 1:98,401,538...98,415,284

G

MAS related GPR family member X2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12

PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More...

NCBI chr 1:98,116,192...98,135,534

G

protein tyrosine phosphatase, non-receptor type 5

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12

PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More...

NCBI chr 1:97,620,638...97,681,186
Ensembl chr 1:97,620,642...97,679,882

G

SPT2 chromatin protein domain containing 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12

PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More...

NCBI chr 1:97,531,495...97,549,616
Ensembl chr 1:97,531,508...97,549,581

G

transmembrane protein 86A

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12

PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More...

NCBI chr 1:97,595,910...97,600,260
Ensembl chr 1:97,595,842...97,600,260

G

tumor susceptibility 101

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12

PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More...

NCBI chr 1:97,412,689...97,442,589
Ensembl chr 1:97,410,848...97,442,554

G

UEV and lactate/malate dehyrogenase domains

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12

PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More...

NCBI chr 1:97,454,188...97,486,004
Ensembl chr 1:97,453,946...97,486,000

G

zinc finger DHHC-type palmitoyltransferase 13

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12

PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More...

NCBI chr 1:98,487,319...98,525,906
Ensembl chr 1:98,487,358...98,525,905

hypertrophic cardiomyopathy 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

troponin C1, slow skeletal and cardiac type

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 13 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 13
OMIM:613243
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9536098 PMID:11385718 PMID:16302972 PMID:17576681 PMID:18042489 More...

NCBI chr16:6,400,801...6,405,634
Ensembl chr16:6,402,171...6,405,634

hypertrophic cardiomyopathy 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LIM domain binding 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14

NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532

G

microRNA 208a

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14

NCBI chr15:28,425,570...28,425,652

G

microRNA 208b

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14

NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749

G

myosin heavy chain 6

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14
OMIM:613251
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:7731997 PMID:9172070 PMID:9536098 PMID:11815426 PMID:15735645 More...

NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720

G

myosin heavy chain 7

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14

NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217

hypertrophic cardiomyopathy 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

vinculin

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 15 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 15 | ClinVar Annotator: match by term: VCL-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:11815424 PMID:16236538 PMID:16712796 PMID:16949038 PMID:17097056 More...

NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606

hypertrophic cardiomyopathy 16

term browser

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Evidence

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PubMed Reference(s)

RGD Reference(s)

Position

G

myozenin 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 16 | ClinVar Annotator: match by term: MYOZ2-related condition

PMID:9536098 PMID:17347475 PMID:17434779 PMID:17576681 PMID:19472918 More...

NCBI chr 2:211,141,463...211,168,187
Ensembl chr 2:211,141,463...211,168,221

hypertrophic cardiomyopathy 17

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

junctophilin 2

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 17 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 17 | ClinVar Annotator: match by term: JPH2-related condition

PMID:17476457 PMID:17509612 PMID:22389502 PMID:22584458 PMID:23757202 More...

NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904

hypertrophic cardiomyopathy 18

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centrosomal protein 85-like

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 18

PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16829191 More...

NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516

G

phospholamban

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 18

PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16829191 More...

NCBI chr20:32,629,537...32,639,559

hypertrophic cardiomyopathy 2

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 9

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2

PMID:12166651 PMID:25741868 PMID:28492532

NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356

G

ankyrin repeat domain 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2

PMID:19608031 PMID:25741868 PMID:28492532

NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919

G

desmoplakin

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2

PMID:19863551 PMID:21062920 PMID:21397041 PMID:21606390 PMID:21606396 More...

NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800

G

GATA zinc finger domain containing 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107

G

junctophilin 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2

NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904

G

LIM domain binding 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2

NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532

G

lamin A/C

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2

PMID:12920062 PMID:18414213 PMID:18795223 PMID:19318026 PMID:19424285 More...

NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423

G

myosin heavy chain 6

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2

PMID:25741868 PMID:28492532

NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720

G

myosin heavy chain 7

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2

NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217

G

nebulette

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2

NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210

G

troponin T2, cardiac type

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 2 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2
OMIM:115195
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:181617 PMID:209243 PMID:209262 PMID:541918 PMID:936231 More...

NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388

G

titin

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 2 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2

PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27585509 More...

NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741

G

vinculin

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2

NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606

hypertrophic cardiomyopathy 20

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nexilin (F actin binding protein)

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 20 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 | ClinVar Annotator: match by term: NEXN-related condition
OMIM:613876

OMIM
ClinVar
MouseDO

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19881492 PMID:20970104 More...

NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342

hypertrophic cardiomyopathy 21

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tropomyosin 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 21

PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532 PMID:33673806 More...

NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802

hypertrophic cardiomyopathy 25

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CASC3 exon junction complex subunit

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,769,014...83,788,966
Ensembl chr10:83,769,001...83,788,966

G

cell division cycle 6

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,864,189...83,878,011
Ensembl chr10:83,864,638...83,878,011

G

colony stimulating factor 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

erb-b2 receptor tyrosine kinase 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

growth factor receptor bound protein 7

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,443,387...83,453,057
Ensembl chr10:83,444,004...83,453,052

G

gasdermin A

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,614,336...83,639,543
Ensembl chr10:83,627,051...83,639,543

G

IKAROS family zinc finger 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591

G

leucine rich repeat containing 3C

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,608,797...83,610,128
Ensembl chr10:83,608,483...83,611,646

G

mediator complex subunit 24

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,664,609...83,702,315
Ensembl chr10:83,664,609...83,690,123

G

migration and invasion enhancer 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,435,198...83,436,491
Ensembl chr10:83,434,710...83,436,488

G

MSL complex subunit 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,755,380...83,767,147
Ensembl chr10:83,755,720...83,765,726

G

nuclear receptor subfamily 1, group D, member 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705

G

ORMDL sphingolipid biosynthesis regulator 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,590,052...83,596,035
Ensembl chr10:83,590,071...83,598,620

G

post-GPI attachment to proteins phospholipase 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628

G

phenylethanolamine-N-methyltransferase

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556

G

proteasome 26S subunit, non-ATPase 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,643,473...83,655,620
Ensembl chr10:83,643,647...83,655,618

G

Rap guanine nucleotide exchange factor like 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,793,711...83,810,373
Ensembl chr10:83,793,694...83,810,371

G

titin-cap

ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1N | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25
ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:10655062 PMID:12507422 PMID:15582318 PMID:16352453 More...

NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887

G

thyroid hormone receptor alpha

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,701,885...83,729,408
Ensembl chr10:83,700,755...83,729,936

G

thymopoietin

ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25

PMID:16247757 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727

G

troponin I3, cardiac type

ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1N | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

PMID:3144325 PMID:3349559 PMID:9241277 PMID:10806205 PMID:11735257 More...

NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580

G

WAS/WASL interacting protein family, member 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,821,067...83,861,634
Ensembl chr10:83,821,068...83,857,028

G

zona pellucida binding protein 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25

NCBI chr10:83,558,772...83,567,511
Ensembl chr10:83,559,016...83,567,508

hypertrophic cardiomyopathy 26

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

filamin C

ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 15 | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 26 | ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 5 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26

PMID:9536098 PMID:15929027 PMID:16199547 PMID:17576681 PMID:18414213 More...

NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844

G

hemoglobin subunit beta

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26

PMID:10722117 PMID:11939509 PMID:24115288 PMID:25741868

NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012

Hypertrophic Cardiomyopathy 27

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-kinase 3

ClinVar Annotator: match by term: ALPK3-related condition | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic 27

PMID:9536098 PMID:17576681 PMID:21441111 PMID:24033266 PMID:25741868 More...

NCBI chr 1:135,014,455...135,062,294
Ensembl chr 1:135,014,499...135,062,302

Hypertrophic Cardiomyopathy 28

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

formin homology 2 domain containing 3

ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 28 | ClinVar Annotator: match by term: FHOD3-related condition

PMID:24088304 PMID:25741868 PMID:28492532 PMID:28991257 PMID:30442288 More...

NCBI chr18:15,993,079...16,425,796
Ensembl chr18:15,993,324...16,425,796

Hypertrophic Cardiomyopathy 29

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kelch-like family member 24

ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies

NCBI chr11:80,843,621...80,877,649
Ensembl chr11:80,846,755...80,877,636

hypertrophic cardiomyopathy 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tropomyosin 1

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 3 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 3
OMIM:115196
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More...

NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802

hypertrophic cardiomyopathy 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

dynein, axonemal, assembly factor 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4

NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344

G

LIM domain binding 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4

NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532

G

MAP-kinase activating death domain

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4

NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701

G

myosin binding protein C3

ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 4, susceptibility to | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: MYBPC3-related condition
OMIM:115197
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:747929 More...

NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405

G

myosin heavy chain 7

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4

PMID:23233322 PMID:24111713 PMID:25741868 PMID:28492532 PMID:34460321

NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217

G

neutrophil cytosolic factor 1

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4

NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646

G

ryanodine receptor 2

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4

NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142

G

titin-cap

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4

PMID:12507422 PMID:15582318 PMID:28492532

NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887

G

troponin I3, cardiac type

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4

NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580

G

troponin T2, cardiac type

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4

PMID:25741868 PMID:28492532 PMID:30696458 PMID:31737537

NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388

hypertrophic cardiomyopathy 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein kinase AMP-activated non-catalytic subunit gamma 2

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 6 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 6
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:7657794 PMID:10355918 PMID:10820940 PMID:11371514 PMID:11407343 More...

NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142

hypertrophic cardiomyopathy 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein, axonemal, assembly factor 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7

PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344

G

formin homology 2 domain containing 3

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7

NCBI chr18:15,993,079...16,425,796
Ensembl chr18:15,993,324...16,425,796

G

troponin I3, cardiac type

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 7 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7
OMIM:613690

OMIM
ClinVar
MouseDO

PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10731705 More...

NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580

G

troponin T1, slow skeletal type

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721

hypertrophic cardiomyopathy 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin light chain 3

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 8 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 8
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:6211078 PMID:08673105 PMID:9536098 PMID:9927691 PMID:10948063 More...

NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816

hypertrophic cardiomyopathy 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alanyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9

PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More...

NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090

G

PMS1 homolog 2, mismatch repair system component

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9

PMID:7628019 PMID:15256438 PMID:16144131 PMID:16619239 PMID:17557300 More...

NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066

G

titin

ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:10462489 PMID:11310621 PMID:16084088 PMID:17344846 More...

NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741

Immunodeficiency 93

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

folliculin interacting protein 1

ClinVar Annotator: match by term: Immunodeficiency 93 and hypertrophic cardiomyopathy

PMID:25741868 PMID:32181500 PMID:32905580

NCBI chr10:38,567,728...38,650,824
Ensembl chr10:38,567,729...38,650,824

G

Rap guanine nucleotide exchange factor 6

ClinVar Annotator: match by term: Immunodeficiency 93 and hypertrophic cardiomyopathy

NCBI chr10:38,655,854...38,824,227
Ensembl chr10:38,655,867...38,823,211

infantile hypertrophic cardiomyopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrially encoded ATP synthase membrane subunit 6

ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic

PMID:19188198 PMID:26803244

NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599

G

mitochondrially encoded ATP synthase membrane subunit 8

ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic

PMID:19188198 PMID:26803244

NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961

Keutel Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrix Gla protein

DNA:deletion,nonsense mutation, splice-site mutation:exon, intron:c.69delG, IVS1-2A>G, c.113T>A (human)
ClinVar Annotator: match by term: Keutel syndrome | ClinVar Annotator: match by term: Pulmonic stenosis brachytelephalangism and calcification of cartilages
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:9916809 PMID:15810001 PMID:21705322 PMID:25741868 PMID:28492532 More...

NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667

MASS Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type II alpha 1 chain

ClinVar Annotator: match by term: MASS syndrome

PMID:25741868 PMID:28492532 PMID:35296718

NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546

G

fibrillin 1

ClinVar Annotator: match by term: MASS syndrome | ClinVar Annotator: match by term: Overlap connective tissue disease
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:627879 PMID:948948 PMID:1569206 PMID:2005308 PMID:2254511 More...

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

mitochondrial complex IV deficiency nuclear type 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome c oxidase assembly factor 6

ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

PMID:22277967 PMID:24549041 PMID:25339201 PMID:25741868 PMID:25959673 More...

NCBI chr19:54,395,746...54,398,348
Ensembl chr19:54,395,742...54,399,407

mitochondrial complex IV deficiency nuclear type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome C oxidase assembly factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:39,651,459...39,664,870

G

cytochrome c oxidase assembly factor 6

CTD Direct Evidence: marker/mechanism

NCBI chr19:54,395,746...54,398,348
Ensembl chr19:54,395,742...54,399,407

G

cytochrome c oxidase assembly homolog COX15

CTD Direct Evidence: marker/mechanism

NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261

G

non-SMC condensin II complex, subunit H2

ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2

PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 More...

NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938

G

thymidine phosphorylase

ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2

PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874

mitochondrial complex IV deficiency nuclear type 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome c oxidase assembly homolog COX15

ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

PMID:2175025 PMID:9536098 PMID:12474143 PMID:15235026 PMID:15863660 More...

NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261

mitochondrial complex IV deficiency nuclear type 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome C oxidase assembly factor 5

ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3

NCBI chr 9:39,651,459...39,664,870

Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitogen activated protein kinase kinase kinase 7

DNA:missense mutations, deletions:CDS:multiple (human)
ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome

OMIM
ClinVar
RGD

PMID:20186786 PMID:25741868 PMID:27426733 PMID:27426734 PMID:28492532 More...

NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597

mitral valve disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

susceptibility

DNA:insertion/deletion:intron 16:

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

intraflagellar transport 88

NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147

G

methylenetetrahydrofolate reductase

susceptibility

associated with rheumatic heart disease;DNA:SNP:cds:677C>T (human)

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

mitral valve insufficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arachidonate epidermal lipoxygenase 3

ClinVar Annotator: match by term: Mitral regurgitation

NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328

G

fibrillin 1

ClinVar Annotator: match by term: Mitral regurgitation

PMID:16571647 PMID:16905551 PMID:17657824 PMID:17701892 PMID:19349279 More...

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

G

hes family bHLH transcription factor 7

ClinVar Annotator: match by term: Mitral regurgitation

NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097

G

LIM and cysteine-rich domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:145,393,153...145,452,049
Ensembl chr 4:145,393,145...145,452,046

mitral valve prolapse

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

severity

associated with Marfan Syndrome;DNA:polymorphism,haplotype:

GAD
RGD

PMID:15118671 PMID:17379330

RGD:1331525, RGD:13432357

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

angiotensinogen

severity

associated with Marfan Syndrome;DNA:haplotype:cds: p.M235T(human)

GAD
RGD

PMID:15118671 PMID:17379330

RGD:1331525, RGD:13432357

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

dachsous cadherin-related 1

OMIM:157700 | OMIM:607829 | OMIM:610840

NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808

G

desmin

protein:altered expression:;eft ventricule

RGD

NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699

G

DAZ interacting zinc finger protein 1

OMIM:157700 | OMIM:607829 | OMIM:610840

NCBI chr15:95,956,329...96,009,994
Ensembl chr15:95,956,398...96,010,066

G

fibrillin 1

ClinVar Annotator: match by term: Mitral valve prolapse

PMID:25741868 PMID:12918850

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

G

filamin A

DNA:missense mutation:cds:p.G288R (human)

RGD

NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052

G

LIM and cysteine-rich domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:145,393,153...145,452,049
Ensembl chr 4:145,393,145...145,452,046

G

latent transforming growth factor beta binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975

G

mitogen activated protein kinase kinase 2

ClinVar Annotator: match by term: Mitral valve prolapse

PMID:25741868 PMID:28492532

NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243

G

phosphofurin acidic cluster sorting protein 1

ClinVar Annotator: match by term: Mitral valve prolapse

PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25533962 More...

NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473

G

plasminogen activator, urokinase

RGD

NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775

G

RT1 class I, locus CE13

associated with Graves Disease; DNA:polymorphisms:cds:HLA-B15 (human)

RGD

NCBI chr20:3,314,830...3,318,106

G

solute carrier family 39 member 13

ClinVar Annotator: match by term: Mitral valve prolapse

PMID:25741868 PMID:28492532

NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226

G

thyroid stimulating hormone receptor

RGD

NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538

G

titin

ClinVar Annotator: match by term: Mitral valve prolapse

PMID:22335739 PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 More...

NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741

mitral valve stenosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 10

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

Myxomatous Mitral Valve Prolapse 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dachsous cadherin-related 1

ClinVar Annotator: match by term: DCHS1-related disorder | ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 2
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:12707861 PMID:17576681 PMID:25741868 PMID:26258302 More...

NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808

Myxomatous Mitral Valve Prolapse 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DAZ interacting zinc finger protein 1

ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 3
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:25741868 PMID:31118289

NCBI chr15:95,956,329...96,009,994
Ensembl chr15:95,956,398...96,010,066

Noonan syndrome with multiple lentigines

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines

PMID:17704260 PMID:18042262 PMID:19206169 PMID:19416762 PMID:20301557 More...

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

Eph receptor A2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117

G

mitogen activated protein kinase kinase 2

ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines

PMID:17366577 PMID:24033266 PMID:24719372 PMID:28492532 PMID:30773290

NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243

G

protein phosphatase 1, regulatory subunit 13 like

ClinVar Annotator: match by term: Cardio-cutaneous syndrome

NCBI chr 1:79,010,997...79,030,714
Ensembl chr 1:79,011,745...79,030,712

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

protein tyrosine phosphatase, non-receptor type 11

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | ClinVar Annotator: match by term: LEOPARD syndrome | ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME | ClinVar Annotator: match by term: Multiple lentigines syndrome | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines

CTD
ClinVar
MouseDO
RGD

PMID:1635821 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 More...

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

Raf-1 proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines

PMID:1760348 PMID:10064593 PMID:11447113 PMID:17603482 PMID:17603483 More...

NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317

Noonan syndrome with multiple lentigines 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein tyrosine phosphatase, non-receptor type 11

DNA:missense mutations:exons:p.Y279C, p.T468M (human)
ClinVar Annotator: match by term: LEOPARD syndrome 1
DNA:missense mutations:cds:multiple (human)
DNA:missense mutations:cds:p.Y279S, p.Q510P (human)

ClinVar
OMIM
RGD

PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 PMID:3274644 More...

RGD:1601571, RGD:11062587, RGD:11062391

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

ribosomal protein L6

ClinVar Annotator: match by term: LEOPARD syndrome 1

NCBI chr12:35,347,493...35,352,011
Ensembl chr12:35,347,497...35,351,921

Noonan syndrome with multiple lentigines 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

makorin, ring finger protein, 2

ClinVar Annotator: match by term: LEOPARD syndrome 2

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 4:148,661,529...148,679,580
Ensembl chr 4:148,661,553...148,679,642

G

Raf-1 proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: LEOPARD syndrome 2
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1760348 PMID:9536098 PMID:10064593 PMID:10497893 PMID:14701845 More...

NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317

G

transmembrane protein 40

ClinVar Annotator: match by term: LEOPARD syndrome 2

NCBI chr 4:148,791,509...148,819,287
Ensembl chr 4:148,791,505...148,823,665

Noonan syndrome with multiple lentigines 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: LEOPARD syndrome 3

PMID:11313766 PMID:12068308 PMID:12810628 PMID:12960123 PMID:14749708 More...

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

nuclear type mitochondrial complex I deficiency 20

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA dehydrogenase family, member 9

ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency
OMIM:611126
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:7599230 PMID:9536098 PMID:16199547 PMID:17564966 PMID:17576681 More...

NCBI chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547

G

coiled-coil and C2 domain containing 2A

ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

PMID:19777577 PMID:22241855 PMID:22425360 PMID:23012439 PMID:25741868 More...

NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949

G

centrosomal protein 290

ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency

PMID:16909394 PMID:17345604 PMID:20690115 PMID:21866095 PMID:25741868 More...

NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392

G

cilia and flagella associated protein 92

ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency

PMID:9536098 PMID:16199547 PMID:17576681 PMID:20929961 PMID:21057504 More...

NCBI chr 4:120,126,565...120,181,575
Ensembl chr 4:120,126,567...120,181,546

G

ciliogenesis and planar polarity effector complex subunit 1

ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

PMID:20301500 PMID:22425360 PMID:22693042 PMID:24178751 PMID:25407461 More...

NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500

G

myosin binding protein C3

ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

PMID:8655135 PMID:9562578 PMID:11499718 PMID:12881443 PMID:12951062 More...

NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405

G

nibrin

ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

PMID:23555315 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26467025 More...

NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150

G

peroxisomal biogenesis factor 6

ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

PMID:15542397 PMID:19105186 PMID:19877282 PMID:24016303 PMID:25741868 More...

NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303

G

transmembrane protein 216

ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

PMID:20512146 PMID:25741868 PMID:26092869 PMID:28492532

NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754

Pulmonary Atresia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Rho GTPase activating protein 5

ClinVar Annotator: match by term: Pulmonary artery atresia

NCBI chr 6:69,975,904...70,039,299
Ensembl chr 6:69,976,214...70,037,660

G

BCL2-associated transcription factor 1

ClinVar Annotator: match by term: Pulmonary artery atresia

NCBI chr 1:15,088,436...15,117,666
Ensembl chr 1:15,070,894...15,148,832

G

cell division cycle 27

ClinVar Annotator: match by term: Pulmonary artery atresia

NCBI chr10:89,400,720...89,449,816
Ensembl chr10:89,400,940...89,449,736

G

calponin 2

ClinVar Annotator: match by term: Pulmonary artery atresia

NCBI chr 7:9,712,505...9,719,678
Ensembl chr 7:9,712,516...9,719,656

G

C-terminal binding protein 2

ClinVar Annotator: match by term: Pulmonary artery atresia

NCBI chr 1:187,782,064...187,918,115
Ensembl chr 1:187,782,682...187,920,222

G

FSHD region gene 1

ClinVar Annotator: match by term: Pulmonary artery atresia

NCBI chr16:50,925,783...50,946,661
Ensembl chr16:50,925,803...50,946,661

G

GATA binding protein 4

ClinVar Annotator: match by term: Pulmonary valve atresia

PMID:18055909 PMID:20981092 PMID:25741868 PMID:27535533 PMID:28492532

NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636

G

nodal growth differentiation factor

susceptibility

DNA:mutations

RGD

NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837

G

nucleoporin 153

ClinVar Annotator: match by term: Pulmonary artery atresia

NCBI chr17:17,972,217...18,024,876
Ensembl chr17:17,972,217...18,024,876

G

poly(A) binding protein, cytoplasmic 1

ClinVar Annotator: match by term: Pulmonary artery atresia

NCBI chr 7:67,777,438...67,789,731
Ensembl chr 7:67,777,381...67,789,744

G

RT1 class II, locus Db1

ClinVar Annotator: match by term: Pulmonary artery atresia

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Pulmonary artery atresia

NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535

Pulmonary Atresia with Intact Ventricular Septum

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tropomyosin 1

ClinVar Annotator: match by term: Pulmonary atresia with intact ventricular septum

NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802

Pulmonary Atresia with Ventricular Septal Defect

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box P1

ClinVar Annotator: match by term: Pulmonary atresia with ventricular septal defect

PMID:25741868 PMID:28492532

NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258

pulmonary valve insufficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 3

ClinVar Annotator: match by term: Pulmonary valve insufficiency

PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 More...

NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745

pulmonary valve stenosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADNP homeobox 2

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484

G

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Pulmonic stenosis

PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More...

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

similar to human chromosome 18 open reading frame 63

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:78,159,334...78,202,317
Ensembl chr18:78,164,661...78,202,326

G

calcium voltage-gated channel subunit alpha1 C

ClinVar Annotator: match by term: Pulmonic stenosis

NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648

G

cerebellin 2 precursor

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:79,940,412...79,948,766
Ensembl chr18:79,942,590...79,947,855

G

coiled-coil domain containing 186

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr 1:255,831,663...255,871,954
Ensembl chr 1:255,839,595...255,871,935

G

CD226 molecule

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:82,449,924...82,545,107
Ensembl chr18:82,450,568...82,543,051

G

carnosine dipeptidase 1

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765

G

carnosine dipeptidase 2

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:78,039,924...78,057,030
Ensembl chr18:78,039,932...78,056,922

G

CTD phosphatase subunit 1

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457

G

cytochrome b5 type A

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535
Ensembl chr18:78,202,342...78,258,535

G

divergent protein kinase domain 1C

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:78,087,972...78,109,910
Ensembl chr18:78,087,991...78,109,904

G

docking protein 6

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:82,572,762...83,015,951
Ensembl chr18:82,572,762...83,015,951

G

F-box protein 15

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:78,319,577...78,634,695
Ensembl chr18:78,319,534...78,390,765

G

galanin receptor 1

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577

G

GATA binding protein 4

ClinVar Annotator: match by term: Pulmonic stenosis

PMID:18055909 PMID:20981092 PMID:25741868 PMID:27535533 PMID:28492532

NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Pulmonic stenosis

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

heat shock factor binding protein 1-like 1

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045

G

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Pulmonic stenosis

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

myelin basic protein

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404

G

myosin heavy chain 11

ClinVar Annotator: match by term: Pulmonic stenosis

PMID:25741868 PMID:28492532 PMID:34498425

NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459

G

neuropilin and tolloid like 1

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:79,635,633...79,753,913
Ensembl chr18:79,635,633...79,749,030

G

nuclear factor of activated T-cells 1

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028

G

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:73,497,992...73,565,048
Ensembl chr18:73,498,021...73,565,029

G

prostaglandin reductase 3

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:77,454,435...77,463,785
Ensembl chr18:77,454,435...77,463,785

G

ribosome binding factor A

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:73,639,264...73,648,914
Ensembl chr18:73,639,260...73,648,915

G

rotatin

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333

G

spalt-like transcription factor 3

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789

G

solute carrier family 66 member 2

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676

G

suppressor of cytokine signaling 6

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:82,111,866...82,139,193
Ensembl chr18:82,111,827...82,139,219

G

SOS Ras/Rac guanine nucleotide exchange factor 1

associated with Noonan Syndrome;DNA:missense mutations:CDS:multiple (human)
ClinVar Annotator: match by term: Pulmonic stenosis

PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More...

NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107

G

SRY-box transcription factor 3

ClinVar Annotator: match by term: Pulmonic stenosis

PMID:23757202 PMID:25741868 PMID:28492532

NCBI chr X:139,308,608...139,310,687
Ensembl chr X:139,309,329...139,310,678

G

translocase of inner mitochondrial membrane 21

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:78,314,900...78,319,362
Ensembl chr18:78,314,909...78,319,454

G

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Pulmonic stenosis

PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227

NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555

G

teashirt zinc finger homeobox 1

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:77,376,399...77,452,815
Ensembl chr18:77,377,394...77,453,509

G

thioredoxin-like 4A

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893

G

zinc finger protein 236

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737

G

zinc finger protein 407

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129

G

zinc finger protein 516

ClinVar Annotator: match by term: Pulmonary valve stenosis

NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269

G

zinc finger protein 526

ClinVar Annotator: match by term: Pulmonic stenosis

PMID:25558065 PMID:25741868

NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180

Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin-like growth factor binding protein 7

ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravascular pulmonic stenosis

PMID:12441727 PMID:21835307 PMID:25741868

NCBI chr14:30,737,414...30,797,317
Ensembl chr14:30,737,164...30,797,314

rheumatic heart disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin alpha 2, smooth muscle

mRNA, protein:increases expression:mitral valve, heart (rat)

RGD

NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554

G

BCL2 associated X, apoptosis regulator

mRNA:increases expression:mitral valve, heart (rat)

RGD

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

CD209d molecule

protein:increased expression:left cardiac atrium, dendritic cell (human)

RGD

NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171

G

CD36 molecule

mRNA:decreased expression:blood, mononuclear cell

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

collagen type I alpha 1 chain

mRNA, protein:increases expression:mitral valve, heart (rat)

RGD

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

collagen type III alpha 1 chain

mRNA:increases expression:mitral valve, heart (rat)

RGD

NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547

G

glyceraldehyde-3-phosphate dehydrogenase

RGD

NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235

G

insulin-like growth factor 1

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

interleukin 10

no_association

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

inhibin subunit beta A

mRNA, protein:increases expression:mitral valve, heart (rat)

RGD

NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982

G

lymphoid enhancer binding factor 1

mRNA, protein:increases expression:mitral valve, heart (rat)

RGD

NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794

G

microRNA 155

RGD

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

matrix metallopeptidase 9

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

RT1 class II, locus Ba

susceptibility

DNA:polymorphisms, haplotypes:multiple
DNA:polymorphism, haplotype: :HLA-DQA1*0101, HLA-DQA1*0103, HLA-DQA1*0301 (human)

RGD

PMID:17559688 PMID:29029143

RGD:5147792, RGD:126925989

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

DNA:polymorphisms:cds:HLA-DQB1*08 (human)

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphism (human)
DNA:polymorphism:cds:HLA-DRB1*13 (human)

RGD

PMID:17578051 PMID:16426242

RGD:5147630, RGD:5147643

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

snail family transcriptional repressor 1

mRNA, protein:increases expression:mitral valve, heart (rat)

RGD

NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969

G

suppressor of cytokine signaling 1

treatment

RGD

NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383

G

twist family bHLH transcription factor 1

mRNA, protein:increases expression:mitral valve, heart (rat)

RGD

NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653

G

zinc finger E-box binding homeobox 1

mRNA, protein:increases expression:mitral valve, heart (rat)

RGD

NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214

G

zinc finger E-box binding homeobox 2

mRNA, protein:increases expression:mitral valve, heart (rat)

RGD

NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157

rheumatic myocarditis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gelsolin

protein:decreased expression:blood plasma (human)

RGD

NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402

G

intercellular adhesion molecule 1

severity

protein:increased expression:serum

RGD

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

selectin E

severity

protein:increased expression:serum

RGD

NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741

G

vascular cell adhesion molecule 1

severity

protein:increased expression:serum

RGD

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

Sensorineural Deafness with Hypertrophic Cardiomyopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin VI

ClinVar Annotator: match by term: Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

PMID:15060111 PMID:18212818 PMID:18348273 PMID:24033266 PMID:28492532

NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292

SHONE COMPLEX

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 1

ClinVar Annotator: match by term: Shone complex

PMID:25741868 PMID:28492532

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

subvalvular aortic stenosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

desmoplakin

ClinVar Annotator: match by term: Subvalvular aortic stenosis

PMID:25741868 PMID:28492532 PMID:31983221

NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

Subvalvular Aortic Stenosis, Eisenberg Type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

desmoplakin

ClinVar Annotator: match by term: Subvalvular aortic stenosis, Eisenberg type

PMID:25741868 PMID:28492532 PMID:31983221

NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800

Supravalvar Aortic Stenosis, Eisenberg Type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elastin

ClinVar Annotator: match by term: SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPE | ClinVar Annotator: match by term: Supravalvar aortic stenosis, Eisenberg type

PMID:9215670 PMID:9536098 PMID:9580666 PMID:11175284 PMID:16199547 More...

NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928

supravalvular aortic stenosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abhydrolase domain containing 11

ClinVar Annotator: match by term: Supravalvar aortic stenosis

PMID:7557968 PMID:7611295 PMID:7726172 PMID:8968740 PMID:10627943 More...

NCBI chr12:21,682,206...21,685,331
Ensembl chr12:21,682,202...21,685,398

G

calsequestrin 2

onset

mRNA:decreased expression:left ventricle myocardium

RGD

NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267

G

claudin 3

ClinVar Annotator: match by term: Supravalvar aortic stenosis

PMID:7557968 PMID:7611295 PMID:7726172 PMID:8968740 PMID:10627943 More...

NCBI chr12:21,708,538...21,710,010
Ensembl chr12:21,708,398...21,711,001

G

claudin 4

ClinVar Annotator: match by term: Supravalvar aortic stenosis

PMID:7557968 PMID:7611295 PMID:7726172 PMID:8968740 PMID:10627943 More...

NCBI chr12:21,751,638...21,753,436
Ensembl chr12:21,751,331...21,753,436

G

eukaryotic translation initiation factor 4H

ClinVar Annotator: match by term: Supravalvar aortic stenosis

PMID:7557968 PMID:7611295 PMID:7726172 PMID:8968740 PMID:10627943 More...

NCBI chr12:22,083,155...22,099,876
Ensembl chr12:22,082,835...22,099,876

G

elastin

SVAS,OMIM:185500;DNA:deletion
ClinVar Annotator: match by term: Supravalvar aortic stenosis
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:7557968 PMID:7611295 PMID:7726172 PMID:7884000 PMID:8096434 More...

NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928

G

LIM domain kinase 1

ClinVar Annotator: match by term: Supravalvar aortic stenosis

PMID:7557968 PMID:7611295 PMID:7726172 PMID:8968740 PMID:10627943 More...

NCBI chr12:22,026,697...22,060,605
Ensembl chr12:22,026,672...22,060,606

G

methyltransferase like 27

ClinVar Annotator: match by term: Supravalvar aortic stenosis

PMID:7557968 PMID:7611295 PMID:7726172 PMID:8968740 PMID:10627943 More...

NCBI chr12:21,757,545...21,766,698
Ensembl chr12:21,757,329...21,766,685

G

transmembrane protein 270

ClinVar Annotator: match by term: Supravalvar aortic stenosis

PMID:7557968 PMID:7611295 PMID:7726172 PMID:8968740 PMID:10627943 More...

NCBI chr12:21,793,631...21,798,723
Ensembl chr12:21,794,130...21,798,731

tetralogy of Fallot

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actinin alpha 2

ClinVar Annotator: match by term: Tetralogy of Fallot

PMID:20022194 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622

G

bone morphogenetic protein 10

OMIM:187500

NCBI chr 4:119,872,066...119,877,694
Ensembl chr 4:119,872,045...119,878,627

G

bone morphogenetic protein 7

ClinVar Annotator: match by term: Tetralogy of Fallot

NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788

G

ceramide synthase 1

ClinVar Annotator: match by term: Tetralogy of Fallot

PMID:17924340 PMID:25741868 PMID:28492532

NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519

G

cripto, FRL-1, cryptic family 1

DNA:hypermethylation:promoter:

RGD

NCBI chr 9:36,742,106...36,751,931
Ensembl chr 9:36,739,071...36,751,930

G

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2

OMIM:187500

NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897

G

cysteine-rich with EGF-like domains 1

ClinVar Annotator: match by term: Tetralogy of Fallot

PMID:25741868 PMID:28492532

NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499

G

dynein, axonemal, heavy chain 5

OMIM:187500

NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890

G

dedicator of cyto-kinesis 1

OMIM:187500

NCBI chr 1:189,467,143...189,983,777
Ensembl chr 1:189,467,143...189,983,768

G

EPH receptor B4

ClinVar Annotator: match by term: Tetralogy of Fallot

PMID:19597493 PMID:27760138

NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314

G

fibroblast growth factor 8

OMIM:187500

NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359

G

filamin C

ClinVar Annotator: match by term: Tetralogy of Fallot

NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844

G

Fms related receptor tyrosine kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770

G

forkhead box C1

CTD Direct Evidence: marker/mechanism

NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803

G

forkhead box C2

CTD Direct Evidence: marker/mechanism

NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737

G

forkhead box H1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049

G

GATA binding protein 4

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot

OMIM
CTD
ClinVar

PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 More...

NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636

G

GATA binding protein 5

DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human)

RGD

NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751

G

GATA binding protein 6

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tetralogy of Fallot

OMIM
CTD
ClinVar

PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947

NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532

G

growth differentiation factor 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tetralogy of Fallot

PMID:17924340 PMID:25741868 PMID:28492532

NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519

G

gap junction protein, alpha 1

RGD

NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582

G

gap junction protein, alpha 5

DNA:duplications
OMIM:187500

NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952

G

heart and neural crest derivatives expressed 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:32,917,448...32,920,791
Ensembl chr16:32,917,823...32,919,891

G

hes-related family bHLH transcription factor with YRPW motif 2

OMIM:187500

NCBI chr 1:26,822,131...26,832,218
Ensembl chr 1:26,822,131...26,832,218

G

histone cell cycle regulator

mRNA,protein:decreased expression: myocardium :

RGD

NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529

G

inversin

OMIM:187500

NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350

G

iroquois homeobox 4

ClinVar Annotator: match by term: Tetralogy of Fallot

NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549

G

jagged canonical Notch ligand 1

ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:9536098 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 More...

NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209

G

kinase insert domain receptor

ClinVar Annotator: match by term: Tetralogy of Fallot

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

MKS transition zone complex subunit 1

OMIM:187500

NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655

G

mitochondrially encoded cytochrome c oxidase I

ClinVar Annotator: match by term: Tetralogy of Fallot

NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867

G

mitochondrially encoded cytochrome c oxidase II

ClinVar Annotator: match by term: Tetralogy of Fallot

NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689

G

mitochondrially encoded cytochrome c oxidase III

ClinVar Annotator: match by term: Tetralogy of Fallot

NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

susceptibility

DNA:SNP:cds:p.R653Q(c.1958G>A)(human)

RGD

NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372

G

methylenetetrahydrofolate reductase

susceptibility

DNA:SNP: : rs1801133(human)

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

NIPBL, cohesin loading factor

ClinVar Annotator: match by term: Tetralogy of Fallot

NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899

G

NK2 homeobox 5

DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
OMIM:187500
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More...

NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934

G

notch receptor 1

ClinVar Annotator: match by term: Tetralogy of Fallot

PMID:19597493 PMID:27760138

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

neuropilin 1

susceptibility

DNA:SNP: :rs2228638(human)

RGD

NCBI chr19:56,359,455...56,514,628
Ensembl chr19:56,359,455...56,513,633

G

neurotrophin 3

OMIM:187500

NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596

G

polyhomeotic homolog 1

OMIM:187500

NCBI chr 4:155,510,274...155,532,636
Ensembl chr 4:155,510,274...155,533,959

G

protein tyrosine phosphatase, non-receptor type 11

susceptibility

DNA:snp:intron:c.757-4333A>G (rs11066320) (human)

RGD

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

ret proto-oncogene

ClinVar Annotator: match by term: Fallot tetralogy

PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More...

NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176

G

roundabout guidance receptor 1

ClinVar Annotator: match by term: Tetralogy of Fallot

PMID:25741868 PMID:28492532 PMID:28592524 PMID:29194579 PMID:35227688

NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203

G

T-box transcription factor 1

ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More...

NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380

G

T-box transcription factor 20

DNA:hypomethylation:promoter
mRNA:increased expression:heart (human)

RGD

PMID:31138201 PMID:18275040

RGD:155882584, RGD:155882585

NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175

G

tropomyosin 1

ClinVar Annotator: match by term: Tetralogy of Fallot

NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802

G

zinc finger protein, multitype 2

OMIM:187500
CTD Direct Evidence: marker/mechanism
DNA,mRNA:hypermethylation,decreased expression:promoter,heart:
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot

MouseDO
CTD
ClinVar
OMIM
RGD

PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More...

RGD:1580641, RGD:155882486

NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205

tricuspid atresia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LDL receptor related protein 1

ClinVar Annotator: match by term: Tricuspid atresia

NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910

G

zinc finger protein, multitype 2

OMIM:605067

NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205

tricuspid valve insufficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 4

ClinVar Annotator: match by term: Tricuspid regurgitation

PMID:18055909 PMID:20981092 PMID:25741868 PMID:27535533 PMID:28492532

NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636

G

myosin heavy chain 11

ClinVar Annotator: match by term: Tricuspid regurgitation

NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459

G

nudE neurodevelopment protein 1

ClinVar Annotator: match by term: Tricuspid regurgitation

NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869

G

protein tyrosine phosphatase, non-receptor type 11

ClinVar Annotator: match by term: tricuspid valve insufficiency

PMID:11992261 PMID:12325025 PMID:12634870 PMID:12717436 PMID:12960218 More...

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

Watson syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

neurofibromin 1

ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots

PMID:1302608 PMID:1568246 PMID:1757093 PMID:1783401 PMID:2114220 More...

NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658

Williams-Beuren syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abhydrolase domain containing 11

ClinVar Annotator: match by term: Williams syndrome

NCBI chr12:21,682,206...21,685,331
Ensembl chr12:21,682,202...21,685,398

G

ABHD11 antisense RNA 1 (tail to tail)

ClinVar Annotator: match by term: Williams syndrome

NCBI chr12:21,681,118...21,682,106

G

bromodomain adjacent to zinc finger domain, 1B

CTD Direct Evidence: marker/mechanism
OMIM:194050
ClinVar Annotator: match by term: Williams syndrome

CTD
MouseDO
ClinVar

PMID:16448863 PMID:25741868

NCBI chr12:21,431,985...21,489,956
Ensembl chr12:21,431,985...21,490,426

G

BAF chromatin remodeling complex subunit BCL7B

ClinVar Annotator: match by term: Williams syndrome

NCBI chr12:21,496,860...21,510,079
Ensembl chr12:21,496,856...21,510,202

G

BUD23, rRNA methyltransferase and ribosome maturation factor

ClinVar Annotator: match by term: Williams syndrome

NCBI chr12:21,629,551...21,640,758
Ensembl chr12:21,629,536...21,640,751

G

claudin 3

ClinVar Annotator: match by term: Williams syndrome

NCBI chr12:21,708,538...21,710,010
Ensembl chr12:21,708,398...21,711,001

G

claudin 4

ClinVar Annotator: match by term: Williams syndrome

NCBI chr12:21,751,638...21,753,436
Ensembl chr12:21,751,331...21,753,436

G

CAP-GLY domain containing linker protein 2

ClinVar Annotator: match by term: Williams syndrome
OMIM:194050

ClinVar
MouseDO
RGD

PMID:25741868 PMID:12195424

NCBI chr12:22,163,044...22,227,023
Ensembl chr12:22,163,218...22,227,023

G

discs large MAGUK scaffold protein 4

CTD Direct Evidence: marker/mechanism
OMIM:194050

NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153

G

DnaJ heat shock protein family (Hsp40) member C30

ClinVar Annotator: match by term: Williams syndrome

NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408

G

eukaryotic translation initiation factor 4H

ClinVar Annotator: match by term: Williams syndrome
OMIM:194050

ClinVar
MouseDO
RGD

PMID:25741868 PMID:8812460

NCBI chr12:22,083,155...22,099,876
Ensembl chr12:22,082,835...22,099,876

G

elastin

ClinVar Annotator: match by term: CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB | ClinVar Annotator: match by term: Williams syndrome | ClinVar Annotator: match by term: Williams-Beuren syndrome
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:10942104 PMID:25741868 PMID:28492532 PMID:31829210 PMID:7545578 More...

RGD:7207897, RGD:9585755

NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928

G

FKBP prolyl isomerase family member 6

ClinVar Annotator: match by term: Williams syndrome

PMID:25741868 PMID:9782077

NCBI chr12:21,318,251...21,390,350
Ensembl chr12:21,319,568...21,390,350

G

frizzled class receptor 3

RGD

NCBI chr15:39,421,366...39,488,369
Ensembl chr15:39,421,355...39,488,369

G

frizzled class receptor 9

OMIM:194050
ClinVar Annotator: match by term: Williams syndrome

MouseDO
ClinVar

NCBI chr12:21,427,084...21,429,398
Ensembl chr12:21,427,084...21,429,398

G

general transcription factor II I

CTD Direct Evidence: marker/mechanism
OMIM:194050
ClinVar Annotator: match by term: Williams syndrome

CTD
MouseDO
ClinVar

PMID:20007321 PMID:21328569 PMID:25741868

NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243

G

GTF2I repeat domain containing 1

CTD Direct Evidence: marker/mechanism
OMIM:194050
ClinVar Annotator: match by term: Williams syndrome

CTD
MouseDO
ClinVar

PMID:20007321 PMID:25741868

NCBI chr12:22,254,113...22,361,052
Ensembl chr12:22,254,221...22,361,040

G

linker for activation of T cells family, member 2

ClinVar Annotator: match by term: Williams syndrome

PMID:25741868 PMID:11003705

NCBI chr12:22,104,173...22,118,294
Ensembl chr12:22,104,219...22,118,288

G

LIM domain kinase 1

OMIM:194050
ClinVar Annotator: match by term: Williams syndrome

MouseDO
ClinVar

NCBI chr12:22,026,697...22,060,605
Ensembl chr12:22,026,672...22,060,606

G

lysyl oxidase

OMIM:194050

NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477

G

methyltransferase like 27

ClinVar Annotator: match by term: Williams syndrome

NCBI chr12:21,757,545...21,766,698
Ensembl chr12:21,757,329...21,766,685

G

MLX interacting protein-like

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Williams syndrome

PMID:25741868 PMID:28492532

NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112

G

neutrophil cytosolic factor 1

RGD

NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646

G

NOP2/Sun RNA methyltransferase 5

ClinVar Annotator: match by term: Williams syndrome

NCBI chr12:21,293,637...21,299,319
Ensembl chr12:21,293,645...21,299,272

G

RCC1 like

RGD

NCBI chr12:22,543,125...22,574,042
Ensembl chr12:22,543,734...22,574,036

G

replication factor C subunit 2

ClinVar Annotator: match by term: Williams syndrome

NCBI chr12:22,120,449...22,133,576
Ensembl chr12:22,120,010...22,133,557

G

SRC proto-oncogene, non-receptor tyrosine kinase

OMIM:194050

NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476

G

syntaxin 1A

ClinVar Annotator: match by term: Williams syndrome

NCBI chr12:21,641,971...21,670,022
Ensembl chr12:21,641,969...21,669,930

G

transducin (beta)-like 2

ClinVar Annotator: match by term: Williams syndrome

NCBI chr12:21,517,600...21,531,896
Ensembl chr12:21,520,682...21,531,896

G

transmembrane protein 270

ClinVar Annotator: match by term: Williams syndrome

NCBI chr12:21,793,631...21,798,723
Ensembl chr12:21,794,130...21,798,731

G

tripartite motif-containing 50

ClinVar Annotator: match by term: Williams syndrome

NCBI chr12:21,300,784...21,317,668
Ensembl chr12:21,300,785...21,317,668

G

VPS37D subunit of ESCRT-I

ClinVar Annotator: match by term: Williams syndrome

NCBI chr12:21,609,210...21,614,669
Ensembl chr12:21,609,182...21,614,659

X-linked cardiac valvular dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

filamin A

ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, deletion:cds, exons, introns:multiple (human)

OMIM
ClinVar
CTD
RGD

PMID:240645 PMID:1854572 PMID:8230166 PMID:9497244 PMID:9536098 More...

NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052

Term paths to the root

Path 1
Term	Annotations
disease	19057
disease of anatomical entity	18393
thoracic disease	4025
heart disease	3447
heart valve disease	543
Cardiac Papillary Fibroelastoma	0
Cardiac Valvular Dysplasia +	3
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions	0
Heart Valve Prolapse +	18
Pulmonary Atresia +	14
Storm Syndrome	0
aortic valve disease +	387
mitral valve disease +	25
pulmonary valve disease +	101
rheumatic heart disease +	25
tricuspid valve disease +	11
Path 2
Term	Annotations
disease	19057
disease of anatomical entity	18393
respiratory system disease	5220
thoracic disease	4025
heart disease	3447
heart valve disease	543
Cardiac Papillary Fibroelastoma	0
Cardiac Valvular Dysplasia +	3
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions	0
Heart Valve Prolapse +	18
Pulmonary Atresia +	14
Storm Syndrome	0
aortic valve disease +	387
mitral valve disease +	25
pulmonary valve disease +	101
rheumatic heart disease +	25
tricuspid valve disease +	11

paths to the root