DisGeNET - a database of gene-disease associations

ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1085307429

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

11484689

2001

dbSNP:

rs121909284

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

dbSNP:

rs121909287

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

dbSNP:

rs121909288

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

11484689

2001

dbSNP:

rs121909288

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation.

20056902

2010

dbSNP:

rs121909289

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

dbSNP:

rs121909289

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

Pulmonary arterial hypertension as the first manifestation in a patient with hereditary hemorrhagic telangiectasia.

25318803

2014

dbSNP:

rs28936401

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia.

15065824

2004

dbSNP:

rs28936401

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

26387786

2015

dbSNP:

rs28936401

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.

14684682

2003

dbSNP:

rs28936687

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

dbSNP:

rs28936688

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

dbSNP:

rs387906393

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

dbSNP:

rs863223408

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension.

18159113

2008

dbSNP:

rs863223408

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension.

23919827

2013

dbSNP:

rs863223408

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients.

21378382

2011

dbSNP:

rs863223408

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension.

23298310

2013

dbSNP:

rs863223408

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

26387786

2015

dbSNP:

rs863223408

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.

15687131

2005

dbSNP:

rs886043123

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1832529
Disease:

HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION

0.700

CausalMutation

CLINVAR

Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension.

23919827

2013

dbSNP:

rs2277382

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C3203102
Disease:

Idiopathic pulmonary arterial hypertension

0.010

GeneticVariation

BEFREE

The genotyping of 22 SNP including the latter showed that only rs2277382 was associated with SSc-PAH (p=0.0066, OR 2.13, 95% CI 1.24 to 3.65).

22896741

2012

dbSNP:

rs1700159

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C0200637
Disease:

Monocyte count procedure

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs1700159

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C0750880
Disease:

Monocyte count result

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs139142865

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C0027651
Disease:

Neoplasms

0.010

GeneticVariation

BEFREE

One patient with a gonadotroph tumor had a confirmed A482V germline mutation in the Alk1 gene within kinase subdomains X-XI.

10323406

1999

dbSNP:

rs1060503248

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C1838163
Disease:

OSLER-RENDU-WEBER SYNDROME 2

0.800

CausalMutation

CLINVAR

Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.

18285823

2008