aortic 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:	aortic disease	go back to main search page
Accession:	DOID:520	browse the term
Definition:	An artery disease that is characterized by degeneration of the cells composing the aortic wall. (DO)
Synonyms:	exact_synonym:	Aortopathy; Familial Aortopathy; aortic diseases; aortic disorder; disorder of the aorta
	primary_id:	MESH:D001018
	xref:	EFO:0005775; NCI:C101253
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (816) Mouse (812) Human (49976) Chinchilla (743) Bonobo (780) Dog (797) Squirrel (753) Pig (782) Green Monkey (774) Naked Mole-rat (748) All
Genes (805) QTL (2) Strains (9)

aortic disease

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: Familial aortopathy

PMID:24871971 PMID:27516224 PMID:36808083 PMID:37108718

NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745

G

actin alpha 2, smooth muscle

ClinVar Annotator: match by term: Familial aortopathy

PMID:19409525 PMID:20734336 PMID:21212136 PMID:21248741 PMID:21733706 More...

NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554

G

advanced glycosylation end product-specific receptor

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

biglycan

ClinVar Annotator: match by term: Familial aortopathy

NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461

G

catalase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

collagen type III alpha 1 chain

ClinVar Annotator: match by term: Familial aortopathy

PMID:7695699 PMID:8218237 PMID:10706896 PMID:18272325 PMID:19344236 More...

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

G

collagen type V alpha 2 chain

ClinVar Annotator: match by term: Familial aortopathy

PMID:25741868 PMID:28492532

NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154

G

coagulation factor VIII

ClinVar Annotator: match by term: Familial aortopathy

PMID:1301932 PMID:1908096 PMID:7728145 PMID:8281136 PMID:19548904 More...

NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857

G

fibrillin 1

ClinVar Annotator: match by term: Familial aortopathy

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

G

fibrillin 2

ClinVar Annotator: match by term: Familial aortopathy

NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976

G

laminin subunit gamma 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:65,374,372...65,501,492
Ensembl chr13:65,374,372...65,501,492

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

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

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

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

G

myosin heavy chain 11

ClinVar Annotator: match by term: Familial aortopathy

PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532

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

G

myosin light chain kinase

ClinVar Annotator: match by term: Familial aortopathy

NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261

G

nudE neurodevelopment protein 1

ClinVar Annotator: match by term: Familial aortopathy

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869

G

retinol binding protein 4

exacerbates

RGD

NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399

G

solute carrier family 12 member 3

ClinVar Annotator: match by term: Familial aortopathy

PMID:8812482 PMID:8900229 PMID:10988270 PMID:12039972 PMID:15102966 More...

NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091

G

solute carrier family 2 member 10

ClinVar Annotator: match by term: Familial aortopathy

PMID:18774132 PMID:25741868 PMID:28492532 PMID:28726533

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

G

SMAD family member 3

ClinVar Annotator: match by term: Familial aortopathy

PMID:21778426 PMID:24804794 PMID:25741868 PMID:28492532 PMID:31098894

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

G

SMAD family member 4

associated with Juvenile Polyposis Syndrome

RGD

NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

transforming growth factor, beta 2

ClinVar Annotator: match by term: Familial aortopathy

PMID:22772368 PMID:23102774 PMID:25741868 PMID:26854089 PMID:28492532 More...

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

G

transforming growth factor, beta receptor 1

ClinVar Annotator: match by term: Familial aortopathy

PMID:10025408 PMID:16799921 PMID:16928994 PMID:19542084 PMID:23884466 More...

NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777

G

vascular cell adhesion molecule 1

RGD

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

abdominal aortic aneurysm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment

RGD

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

G

angiotensin converting enzyme 2

CTD Direct Evidence: therapeutic

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

G

adrenomedullin

protein:increased expression:mast cell, abdominal aorta

RGD

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

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

PMID:16514081 PMID:20937366 PMID:22539767 PMID:25301841 PMID:30354818 More...

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

G

angiotensin II receptor, type 1a

mRNA:increased expression:abdominal aorta
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22539767 PMID:18451329

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

adenosylhomocysteinase

susceptibility

DNA:SNPs,haplotypes:intron: (rs819146, rs7271501) (human)

RGD

NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393

G

apolipoprotein E

disease_progression

DNA:missense mutations, haplotypes:cds:p.C112R (rs7412), p.R158C (rs429358) (human)

RGD

PMID:10848855 PMID:10841519

RGD:1578483, RGD:6903247

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

caspase 3

protein:increased expression:aorta (rat)

RGD

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

G

caveolin 1

associated with Hypertension

RGD

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

G

C-C motif chemokine ligand 2

protein:increased expression:aorta

RGD

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

G

collagen type XI alpha 1 chain

ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm

NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853

G

C-reactive protein

protein:increased expression:plasma

RGD

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

colony stimulating factor 2

severity

mRNA:increased expression:aorta:
protein:decreased expression:serum (rat)

RGD

PMID:15010288 PMID:15238617

RGD:10450246, RGD:1302825

NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199

G

DAB2 interacting protein

sexual_dimorphism

CTD Direct Evidence: marker/mechanism
DNA:SNP:CDS:rs7025486 (human)
mRNA:increased expression:aorta (human)
DNA:SNP:CDS:intron 1 (rs7025486) (human)

CTD
RGD

PMID:20622881 PMID:28698188 PMID:31028191 PMID:20622881

RGD:401938619, RGD:401938604, RGD:401901599

NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280

G

death associated protein kinase 1

CTD Direct Evidence: therapeutic

NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991

G

ets homologous factor

treatment

RGD

NCBI chr 3:89,639,845...89,680,061
Ensembl chr 3:89,641,833...89,679,997

G

elastin

treatment

RGD

PMID:15944607 PMID:18585885

RGD:1580157, RGD:9585668

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

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

mRNA:decreased expression:aorta (human)

RGD

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

Fas ligand

protein:increased expression:aorta (rat)

RGD

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

folate hydrolase 1

susceptibility

DNA:SNPs,haplotypes:exon: (rs202676,rs202680) (human)

RGD

NCBI chr 1:140,428,101...140,501,563
Ensembl chr 1:140,428,101...140,501,379

G

ferritin light chain 1

ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm

PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532

NCBI chr 1:95,936,387...95,938,234
Ensembl chr 1:95,936,387...95,939,725
Ensembl chr10:95,936,387...95,939,725

G

FTO, alpha-ketoglutarate dependent dioxygenase

mRNA, protein:altered expression:aorta

RGD

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

G

glycine amidinotransferase

RGD

NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129

G

glutathione peroxidase 1

treatment

RGD

PMID:21530968 PMID:24337353

RGD:401827823, RGD:401827834

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

glutathione peroxidase 3

treatment

RGD

PMID:21530968 PMID:24337353

RGD:401827823, RGD:401827834

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

G

glycogen synthase 1

ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm

PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532

NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292

G

heme oxygenase 1

RGD

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

G

interferon gamma

protein:increased expression:serum (rat)

RGD

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

interleukin 10

protein:decreased expression:serum (rat)

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 1 beta

protein:decreased expression:serum (rat)

RGD

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

G

integrin subunit alpha M

ameliorates

protein:increased expression:aorta (human)

RGD

PMID:33749307 PMID:33749307

RGD:329853751, RGD:329853751

NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503

G

integrin subunit alpha V

RGD

NCBI chr 3:68,838,514...68,926,653
Ensembl chr 3:68,838,189...68,926,639

G

kininogen 1

DNA:SNP:487G>A

RGD

NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555

G

lysyl oxidase

RGD

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

G

mitogen-activated protein kinase 8

RGD

NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981

G

microRNA 363

mRNA:decreased expression:aorta (human)

RGD

NCBI chr X:132,421,791...132,421,877
Ensembl chr X:132,421,791...132,421,877

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 12

no_association

RGD

PMID:16115023 PMID:16082623

RGD:1582355, RGD:1582356

NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611

G

matrix metallopeptidase 13

no_association

RGD

PMID:15944607 PMID:15156361

RGD:1580157, RGD:1582548

NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239

G

matrix metallopeptidase 14

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:19010778 PMID:15300177 PMID:11877705

RGD:1582579, RGD:1582584

NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864

G

matrix metallopeptidase 2

treatment
no_association

RGD

PMID:20016209 PMID:21256058 PMID:24484904 PMID:15238617 PMID:16458924 More...

RGD:2325698, RGD:13207313, RGD:8657104, RGD:1302825, RGD:1582621, RGD:1582579

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

G

matrix metallopeptidase 3

protein:increased expression:aorta (rat)

RGD

NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961

G

matrix metallopeptidase 8

severity

PMID:16432074 PMID:16432074

RGD:1582641, RGD:1582641

NCBI chr 8:4,724,009...4,733,864
Ensembl chr 8:4,724,029...4,733,520

G

matrix metallopeptidase 9

severity
treatment

CTD Direct Evidence: marker/mechanism

PMID:16432074 PMID:17196988 PMID:16432074 PMID:21256058

RGD:1582641, RGD:1582641, RGD:13207313

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

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

susceptibility

DNA:SNPs,haplotypes:intron: (rs8003379) (human)

RGD

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

G

methylenetetrahydrofolate reductase

DNA:transition:cds:g.677C>T (human)

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

DNA:SNPs,haplotypes:multiple

RGD

NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

DNA:SNP: (rs326118) (human)

RGD

NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425

G

myosin heavy chain 11

protein:increased expression:plasma

RGD

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

G

neutrophil cytosolic factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646

G

nicotinamide N-methyltransferase

susceptibility

DNA:SNPs,haplotypes::

RGD

NCBI chr 8:48,928,663...48,947,734
Ensembl chr 8:48,933,598...48,946,655

G

non-POU domain containing, octamer-binding

ameliorates

RGD

NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952

G

nitric oxide synthase 2

protein:increased expression:aorta tunica media

RGD

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

nuclear receptor subfamily 1, group H, member 3

mRNA:increased expression:abdominal aorta (human)

RGD

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

G

purinergic receptor P2Y12

RGD

NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361

G

poly (ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404

G

phospholipase A2 group VII

RGD

NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476

G

paraoxonase 1

susceptibility

DNA:SNPs, haplotypes:exon:(rs854660,rs662,rs3917594) (human)

RGD

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

periostin

protein:increased expression:aorta:

RGD

PMID:24260297 PMID:24260297

RGD:10041046, RGD:10041046

NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

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

G

RT1 class II, locus Ba

DNA:polymorphism (human)

RGD

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Db1

DNA:polymorphism (human)

RGD

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

selectin L

RGD

NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456

G

serpin family E member 1

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

solute carrier family 19 member 1

susceptibility

DNA:SNP:: (rs3788205) (human)

NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972

G

superoxide dismutase 2

mRNA, protein:increased expression:aorta
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17196988 PMID:17196988

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

sortilin 1

DNA:SNP:CDS:rs599839 (human)

RGD

NCBI chr 2:195,924,033...196,002,354
Ensembl chr 2:195,924,099...196,002,354

G

TIMP metallopeptidase inhibitor 4

protein:decreased expression:aorta (rat)

RGD

NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558

G

thymidylate synthetase

susceptibility

DNA:SNPs,haplotypes:intron, 3'utr: (rs502396,rs16430,rs8423) (human)

RGD

NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536

aortic aneurysm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

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

G

arachidonate 5-lipoxygenase

RGD

NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743

G

amine oxidase, copper containing 3

RGD

NCBI chr10:86,272,757...86,280,702

G

ariadne RBR E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Aortic aneurysm

PMID:28492532 PMID:29689197

NCBI chr 8:59,777,378...59,879,762
Ensembl chr 8:59,777,379...59,880,245

G

ATPase copper transporting alpha

NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354

G

collagen type III alpha 1 chain

ClinVar Annotator: match by term: Aortic aneurysm

PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532

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

G

collagen type V alpha 1 chain

ClinVar Annotator: match by term: Aortic dilatation

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

G

EGF containing fibulin extracellular matrix protein 2

DNA:missense mutation:CDS:p.E161K (human)

NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414

G

elastin

associated with Cutis Laxa;

RGD

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

G

fibrillin 1

severity

DNA:missense mutation:cds:p.G1127S (human)
ClinVar Annotator: match by term: Ascending aortic dilation
DNA:missense mutation:cds:p.C1039G (mouse)

PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 More...

RGD:1300362, RGD:7365039

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

G

filamin A

ClinVar Annotator: match by term: Aortic dilatation

PMID:18414213 PMID:21836662 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052

G

histone deacetylase 4

mRNA:decreased expression:aorta:

RGD

NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164

G

jagged canonical Notch ligand 1

ClinVar Annotator: match by term: Aortic dilatation

PMID:25741868 PMID:28492532

NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209

G

KLF transcription factor 15

NCBI chr 4:122,965,718...122,978,403
Ensembl chr 4:122,965,807...122,978,374

G

lysyl oxidase

RGD

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

G

microRNA 145

disease_progression

miRNA:increased expression:aorta (human)

RGD

NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

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

G

myosin heavy chain 11

ClinVar Annotator: match by term: Aortic aneurysm | ClinVar Annotator: match by term: Aortic dilatation

PMID:22001912 PMID:25741868 PMID:28492532 PMID:36973604

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

G

myosin light chain kinase

ClinVar Annotator: match by term: Familial aortic aneurysms

PMID:26017485 PMID:28492532

NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261

G

nudE neurodevelopment protein 1

ClinVar Annotator: match by term: Aortic aneurysm

PMID:22001912 PMID:25741868 PMID:28492532 PMID:36973604

NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869

G

prostaglandin E receptor 4

RGD

PMID:22570740 PMID:22570740

RGD:6483518, RGD:6483518

NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670

G

roundabout guidance receptor 4

ClinVar Annotator: match by term: Ascending aortic dilation

PMID:25741868 PMID:30455415

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

G

serpin family E member 1

treatment

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

Ski proto-oncogene

CTD Direct Evidence: marker/mechanism

NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733

G

SMAD family member 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aortic aneurysm

PMID:21217753 PMID:25741868

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

G

secreted phosphoprotein 1

protein:increased expression:aorta (human)

RGD

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

G

transforming growth factor, beta 2

ClinVar Annotator: match by term: Aortic aneurysm

PMID:22772371 PMID:25741868 PMID:28492532

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

G

transforming growth factor, beta receptor 1

RGD

NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777

G

transforming growth factor, beta receptor 2

ClinVar Annotator: match by term: Ascending aortic dilation
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:16791849 PMID:16885183 PMID:17061023 PMID:18781618 PMID:24033266 More...

NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228

G

thrombospondin type 1 domain containing 1

ClinVar Annotator: match by term: Aortic aneurysm

PMID:25741868 PMID:27895300

NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504

Aortic Aneurysm, Familial Abdominal 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin light chain kinase

ClinVar Annotator: match by term: Aortic aneurysm, familial abdominal, 1

NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261

Aortic Aneurysm, Giant Congenital

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: Aortic aneurysm, giant congenital

PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More...

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

aortic atherosclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 1

mRNA,protein:decreased expression:aorta

RGD

NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170

G

apolipoprotein E

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

calpain 1

protein:increased activity:aorta

RGD

NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177

G

endothelin 1

exacerbates

associated with type 1 diabetes mellitus;

RGD

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

G

interleukin 33

protein:increased expression:artery:

RGD

NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373

G

low density lipoprotein receptor

RGD

NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580

G

low density lipoprotein receptor; CRISPR/Cas9 induced mutant 1, Dlli

RGD

G

microRNA 223

RNA:increased expression:serum,aorta

RGD

NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996

G

myocardin

exacerbates

protein:decreased expression:aorta

RGD

PMID:33035679 PMID:33035679

RGD:401793744, RGD:401793744

NCBI chr10:49,833,219...49,928,806
Ensembl chr10:49,836,641...49,927,627

G

NADPH oxidase 1

ameliorates

associated with type 1 diabetes mellitus;

RGD

NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236

G

pro-platelet basic protein

protein:increased expression:thrombus,artery

RGD

NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130

G

sterol O-acyltransferase 1

ameliorates

associated with Hypercholesterolemia

RGD

NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494

aortic dissection

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin, alpha 1, skeletal muscle

protein:decreased expression:aorta (human)

RGD

NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742

G

actin alpha 2, smooth muscle

ameliorates

ClinVar Annotator: match by term: Descending aortic dissection
Apolipoprotein E knockout

PMID:25741868 PMID:33403385

NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554

G

bestrophin 3

NCBI chr 7:52,586,824...52,656,776
Ensembl chr 7:52,615,776...52,656,766

G

EGF containing fibulin extracellular matrix protein 2

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

RGD

NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414

G

Eph receptor B1

protein:increased phosphorylation:aorta (human)

RGD

NCBI chr 8:102,507,549...102,944,839
Ensembl chr 8:102,507,549...102,944,839

G

fibrillin 1

ClinVar Annotator: match by term: Acute aortic dissection | ClinVar Annotator: match by term: Aortic dissection

PMID:8040326 PMID:8541880 PMID:8791520 PMID:9399842 PMID:9401003 More...

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

G

forkhead box E3

ClinVar Annotator: match by term: Acute aortic dissection

PMID:26854927 PMID:28492532 PMID:29314435

NCBI chr 5:128,444,912...128,446,494
Ensembl chr 5:128,445,594...128,446,454

G

H19 imprinted maternally expressed transcript

treatment

RNA:increased expression:thoracic aorta (human)

RGD

PMID:33403385 PMID:33403385

RGD:156420156, RGD:156420156

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

interleukin 18 receptor 1

ClinVar Annotator: match by term: Ascending aortic dissection

NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715

G

interleukin 18 receptor accessory protein

ClinVar Annotator: match by term: Ascending aortic dissection

NCBI chr 9:42,768,112...42,800,964
Ensembl chr 9:42,768,220...42,800,959

G

interleukin 1 receptor type 1

ClinVar Annotator: match by term: Ascending aortic dissection

NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937

G

interleukin 1 receptor-like 1

ClinVar Annotator: match by term: Ascending aortic dissection

NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256

G

interleukin 1 receptor-like 2

ClinVar Annotator: match by term: Ascending aortic dissection

NCBI chr 9:42,591,658...42,639,351
Ensembl chr 9:42,591,934...42,636,667

G

kinesin family member 6

DNA:SNP: :p.W719R (rs20455) (human)

RGD

NCBI chr 9:11,076,203...11,373,205
Ensembl chr 9:11,072,824...11,373,006

G

low density lipoprotein receptor

ClinVar Annotator: match by term: Aortic dissection

PMID:1301956 PMID:2088165 PMID:2318961 PMID:3263645 PMID:8882879 More...

NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580

G

lysyl oxidase

ClinVar Annotator: match by term: Acute aortic dissection

PMID:12417550 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 More...

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

G

microRNA 143

miRNA:decreased expression:aorta (human)

RGD

PMID:28167124 PMID:30787994

RGD:155260287, RGD:155260309

NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110

G

microRNA 145

severity

miRNA:decreased expression:aorta (human)

RGD

PMID:28167124 PMID:30787994 PMID:30900421

RGD:155260287, RGD:155260309, RGD:155260292

NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727

G

microRNA 193b

treatment

RGD

NCBI chr10:1,317,742...1,317,824
Ensembl chr10:1,317,742...1,317,824

G

matrix metallopeptidase 2

treatment

Apolipoprotein E knockout

RGD

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

G

matrix metallopeptidase 9

treatment

Apolipoprotein E knockout

RGD

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

G

myosin light chain kinase

ClinVar Annotator: match by term: Aortic dissection

PMID:25326637 PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261

G

non-POU domain containing, octamer-binding

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

RGD

NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952

G

NADPH oxidase 1

ameliorates

RGD

NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236

G

solute carrier family 9 member A2

ClinVar Annotator: match by term: Ascending aortic dissection

NCBI chr 9:42,932,001...43,014,447
Ensembl chr 9:42,931,346...43,014,444

G

solute carrier family 9 member A4

ClinVar Annotator: match by term: Ascending aortic dissection

NCBI chr 9:42,825,334...42,879,729
Ensembl chr 9:42,825,064...42,879,422

G

SMAD family member 3

ClinVar Annotator: match by term: Ascending aortic dissection

PMID:20301312 PMID:25741868 PMID:28492532 PMID:29907982 PMID:30661052 More...

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

G

secreted phosphoprotein 1

protein:increased expression:aorta (human)

RGD

PMID:28167124 PMID:30787994

RGD:155260287, RGD:155260309

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

G

serum response factor binding protein 1

ClinVar Annotator: match by term: Acute aortic dissection

PMID:12417550 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 More...

NCBI chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515

G

transgelin

treatment

Apolipoprotein E knockout

RGD

NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668

Aortic Injuries

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein-L-isoaspartate (D-aspartate) O-methyltransferase 1

RGD

NCBI chr 1:2,111,756...2,160,354
Ensembl chr 1:2,111,763...2,159,201

G

von Willebrand factor

protein:increased expression:endothelial cell:

RGD

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

Aortic Rupture

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase copper transporting alpha

CTD Direct Evidence: marker/mechanism

PMID:2346371 PMID:25449986

NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354

G

endothelin 2

RGD

NCBI chr 5:133,751,316...133,756,814
Ensembl chr 5:133,751,217...133,756,814

G

fibrillin 1

CTD Direct Evidence: marker/mechanism

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

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

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

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

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

G

natriuretic peptide receptor 1

associated with Hypertension

RGD

NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505

G

vitamin K epoxide reductase complex, subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008

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

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

aortitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Large vessel vasculitis

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

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
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
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
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
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

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

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

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: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: 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

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
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | 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

Familial Thoracic Aortic Aneurysm 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin alpha 2, smooth muscle

ClinVar Annotator: match by term: Familial thoracic aortic aneurysm

PMID:25741868 PMID:28492532

NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554

G

collagen type II alpha 1 chain

ClinVar Annotator: match by term: Familial thoracic aortic aneurysm

NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546

G

collagen type III alpha 1 chain

ClinVar Annotator: match by term: Annuloaortic ectasia

PMID:7695699 PMID:8218237 PMID:19344236 PMID:24922459 PMID:25758994 More...

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 ANEURYSM, FAMILIAL THORACIC 1 | ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm

PMID:7870075 PMID:8653794 PMID:8723076 PMID:9399842 PMID:9837823 More...

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

G

forkhead box E3

ClinVar Annotator: match by term: Familial thoracic aortic aneurysm

PMID:26854927 PMID:28492532 PMID:29314435

NCBI chr 5:128,444,912...128,446,494
Ensembl chr 5:128,445,594...128,446,454

G

lysyl oxidase

ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm

PMID:12417550 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 More...

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

G

myosin heavy chain 11

ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm

PMID:22511748 PMID:24033266 PMID:25433566 PMID:25637381 PMID:25741868 More...

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

G

myosin light chain kinase

ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm

PMID:25637381 PMID:25741868 PMID:27879251 PMID:28492532

NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261

G

nudE neurodevelopment protein 1

ClinVar Annotator: match by term: Familial thoracic aortic aneurysm

PMID:25741868 PMID:28492532

NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Familial thoracic aortic aneurysm

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

G

SMAD family member 3

ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm

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

G

serum response factor binding protein 1

ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm

PMID:12417550 PMID:26838787 PMID:27432961 PMID:28492532 PMID:29961567 More...

NCBI chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515

G

transforming growth factor, beta receptor 2

ClinVar Annotator: match by term: Annuloaortic ectasia

PMID:8246946 PMID:11212236 PMID:16791849 PMID:16928994 PMID:17061023 More...

NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228

Familial Thoracic Aortic Aneurysm 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysyl oxidase

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder

PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More...

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

G

serum response factor binding protein 1

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder

PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More...

NCBI chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515

Familial Thoracic Aortic Aneurysm 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box E3

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 11, susceptibility to

PMID:25741868 PMID:26854927 PMID:28492532

NCBI chr 5:128,444,912...128,446,494
Ensembl chr 5:128,445,594...128,446,454

Familial Thoracic Aortic Aneurysm 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thrombospondin type 1 domain containing 4

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 12

PMID:25741868 PMID:32855533

NCBI chr 8:60,384,636...60,984,419
Ensembl chr 8:60,386,875...61,024,995

Familial Thoracic Aortic Aneurysm 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin alpha 2, smooth muscle

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2

PMID:17994018 PMID:19409525 PMID:19639654 PMID:21212136 PMID:21248741 More...

NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554

G

collagen type III alpha 1 chain

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2

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 aneurysm, familial thoracic 2

PMID:25741868 PMID:28492532

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

G

fibrillin 2

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2

NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976

G

filamin A

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2

PMID:25741868 PMID:28492532

NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052

G

solute carrier family 2 member 10

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2

PMID:25741868 PMID:28492532

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

Familial Thoracic Aortic Aneurysm 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bMERB domain containing 1

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4

PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725

NCBI chr10:1,779,834...1,946,586
Ensembl chr10:1,779,835...1,946,575

G

centrosomal protein 20

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4

PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725

NCBI chr10:714,051...736,826
Ensembl chr10:714,151...736,837

G

meiosis regulator and mRNA stability factor 1

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4

PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725

NCBI chr10:888,053...932,760
Ensembl chr10:888,076...932,753

G

MPV17 mitochondrial inner membrane protein like

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4

PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725

NCBI chr10:1,988,451...2,025,300
Ensembl chr10:1,988,136...2,007,649

G

myosin heavy chain 11

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:11249915 PMID:16199547 PMID:16444274 PMID:17576681 More...

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

G

nudE neurodevelopment protein 1

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus

PMID:9536098 PMID:16199547 PMID:16444274 PMID:17576681 PMID:18391202 More...

NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869

Familial Thoracic Aortic Aneurysm 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin alpha 2, smooth muscle

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 | ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 More...

NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554

G

cholesterol 25-hydroxylase

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6

NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195

G

Fas cell surface death receptor

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

fibrillin 1

ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

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

G

lipase A, lysosomal acid type

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6

NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633

G

myosin heavy chain 11

ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532

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

G

myosin light chain kinase

ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532

NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261

G

nudE neurodevelopment protein 1

ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532

NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869

G

solute carrier family 2 member 10

ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

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 3

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6

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

G

transforming growth factor, beta receptor 1

ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

PMID:25741868 PMID:27879313 PMID:28492532

NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777

Familial Thoracic Aortic Aneurysm 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylate cyclase 5

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7

PMID:21055718 PMID:28492532 PMID:28602422

NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974

G

coiled-coil domain containing 14

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7

NCBI chr11:66,052,063...66,087,915
Ensembl chr11:66,052,620...66,087,956

G

3-hydroxyacyl-CoA dehydratase 2

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7

PMID:21055718 PMID:28492532 PMID:28602422

NCBI chr11:65,667,671...65,762,903
Ensembl chr11:65,670,281...65,762,889

G

heart development protein with EGF-like domains 1

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7

NCBI chr11:67,006,954...67,095,020
Ensembl chr11:66,957,190...67,095,051

G

integrin subunit beta 5

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7

NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472

G

kalirin, RhoGEF kinase

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7

NCBI chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610

G

mucin 13, cell surface associated

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7

NCBI chr11:66,957,208...66,980,264
Ensembl chr11:66,960,595...66,984,727

G

myosin light chain kinase

ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7

PMID:9536098 PMID:11029314 PMID:11096123 PMID:16199547 PMID:16399953 More...

NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261

G

oxysterol binding protein-like 11

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7

NCBI chr11:67,533,669...67,616,795
Ensembl chr11:67,533,672...67,596,444

G

rhophilin associated tail protein 1

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7

NCBI chr11:66,097,854...66,127,148
Ensembl chr11:66,097,856...66,127,148

G

solute carrier family 12, member 8

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7

NCBI chr11:67,116,876...67,266,548
Ensembl chr11:67,116,877...67,266,834

G

sorting nexin 4

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7

NCBI chr11:67,460,872...67,518,143
Ensembl chr11:67,460,870...67,518,174

G

uridine monophosphate synthetase

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7

NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903

G

zinc finger protein 148

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7

NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772

Familial Thoracic Aortic Aneurysm 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cleavage stimulation factor subunit 2, tau variant

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8

PMID:25640679 PMID:28492532

NCBI chr 1:228,952,617...228,956,183
Ensembl chr 1:228,952,504...228,955,873

G

dickkopf WNT signaling pathway inhibitor 1

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8

NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202

G

mannose binding lectin 2

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8

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

G

protein kinase cGMP-dependent 1

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 | ClinVar Annotator: match by term: PRKG1-related condition

PMID:9536098 PMID:16199547 PMID:16646045 PMID:17576681 PMID:23910461 More...

NCBI chr 1:228,409,605...229,638,794
Ensembl chr 1:228,408,947...229,639,080

Familial Thoracic Aortic Aneurysm 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

microfibril associated protein 5

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 9 | ClinVar Annotator: match by term: MFAP5-related condition

PMID:25434006 PMID:25741868 PMID:26854089 PMID:27016457 PMID:28492532 More...

NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458

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