×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
Biomarker
disease
GENOMICS_ENGLAND
Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler's Disease, Uppsala University Hospital.
30251589
2018
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
GeneticVariation
disease
CLINVAR
Clinical and genetic findings in children with central nervous system arteriovenous fistulas.
29171923
2017
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
GeneticVariation
disease
CLINVAR
Identification of multiple ACVRL1 mutations in patients with pulmonary arterial hypertension by targeted exome capture.
27316748
2016
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
CausalMutation
disease
CLINVAR
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.
25970827
2016
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
Biomarker
disease
GENOMICS_ENGLAND
Genetic counselling in a national referral centre for pulmonary hypertension.
26699722
2016
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
GeneticVariation
disease
UNIPROT
Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.
26176610
2015
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
GeneticVariation
disease
CLINVAR
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
26387786
2015
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
Biomarker
disease
CLINGEN
Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.
26176610
2015
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
GeneticVariation
disease
CLINVAR
Heart failure and pulmonary arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia type 2.
26245826
2015
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
CausalMutation
disease
CLINVAR
Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.
26176610
2015
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
GeneticVariation
disease
CLINVAR
Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia.
24603890
2014
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
CausalMutation
disease
CLINVAR
Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes.
23722869
2014
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
Biomarker
disease
CLINGEN
Endothelial depletion of Acvrl1 in mice leads to arteriovenous malformations associated with reduced endoglin expression.
24896812
2014
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
GeneticVariation
disease
BEFREE
To do this we expressed wild-type ALK1 and a number of HHT2 patient mutant variants as C-terminally tagged EGFP fusion proteins and tested their localisation in HeLa cells.
23124896
2013
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
CausalMutation
disease
CLINVAR
Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension.
23298310
2013
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
CausalMutation
disease
CLINVAR
Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension.
23919827
2013
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
CausalMutation
disease
CLINVAR
HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis.
23805858
2013
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
CausalMutation
disease
CLINVAR
A rare cause of fatal right ventricular cardiac decompensation.
22377182
2013
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
CausalMutation
disease
CLINVAR
Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.
23124896
2013
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
CausalMutation
disease
CLINVAR
Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex.
22718755
2012
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
CausalMutation
disease
CLINVAR
Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties.
22799562
2012
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
GeneticVariation
disease
CLINVAR
Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations.
22991266
2012
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
CausalMutation
disease
CLINVAR
Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers.
22632830
2012
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
CausalMutation
disease
CLINVAR
Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient.
22553411
2012
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.760
CausalMutation
disease
CLINVAR
Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations.
22991266
2012