Gene: ACVRL1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 Biomarker disease CTD_human
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 Biomarker disease CLINGEN Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. 8640225 1996
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. 8640225 1996
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 GeneticVariation disease UNIPROT Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. 8640225 1996
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 Biomarker disease CLINGEN The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. 9245985 1997
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 GeneticVariation disease CLINVAR The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. 9245985 1997
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. 9245985 1997
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 GeneticVariation disease UNIPROT The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. 9245985 1997
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR Assignment of transforming growth factor beta1 and beta3 and a third new ligand to the type I receptor ALK-1. 10187774 1999
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online. 10694922 1998
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 GeneticVariation disease UNIPROT Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online. 10694922 1998
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR However, in the absence of ligand, ALK-1 and endoglin interactions were observed by immunoprecipitation/western blot in HUVEC from normal as well as HHT1 and HHT2 patients. 10767348 2000
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 GeneticVariation disease UNIPROT However, in the absence of ligand, ALK-1 and endoglin interactions were observed by immunoprecipitation/western blot in HUVEC from normal as well as HHT1 and HHT2 patients. 10767348 2000
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 GeneticVariation disease UNIPROT Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families. 11170071 2001
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 GeneticVariation disease UNIPROT Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. 11484689 2001
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. 11484689 2001
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 Biomarker disease CLINGEN Extracellular and cytoplasmic domains of endoglin interact with the transforming growth factor-beta receptors I and II. 12015308 2002
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia. 12114496 2002
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 Biomarker disease CLINGEN A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2. 12588795 2003
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR Disease-associated mutations in conserved residues of ALK-1 kinase domain. 12700602 2003
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 Biomarker disease BEFREE We also analysed the data published on 44 families with HHT2 and conclude that visceral manifestations occur in 26 of these families and affect 30% of HHT2 patients. 12843319 2003
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR Visceral manifestations in hereditary haemorrhagic telangiectasia type 2. 12843319 2003
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 Biomarker disease GENOMICS_ENGLAND Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. 14684682 2003
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. 14684682 2003