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 GeneticVariation disease UNIPROT 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 GeneticVariation disease UNIPROT Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. 15024723 2004
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 GeneticVariation disease CLINVAR Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. 15024723 2004
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. 15024723 2004
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. 15065824 2004
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes. 15375013 2004
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. 15517393 2005
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 GeneticVariation disease CLINVAR Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. 15517393 2005
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood. 15687131 2005
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 Biomarker disease CLINGEN Interaction and functional interplay between endoglin and ALK-1, two components of the endothelial transforming growth factor-beta receptor complex. 15702480 2005
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 GeneticVariation disease UNIPROT Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations. 15712270 2005
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations. 15712270 2005
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia. 15712271 2005
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 GeneticVariation disease CLINVAR Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia. 15712271 2005
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 GeneticVariation disease CLINVAR Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. 15879500 2006
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. 15879500 2006
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients. 15880681 2005
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 GeneticVariation disease BEFREE Circulating levels of TGF-beta1 were reduced in HHT1 patients (with Endoglin mutations) compared to control, but not in HHT2 patients (with ALK1 mutations). 15907823 2005
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR ALK-1 mutations in liver transplanted patients with hereditary hemorrhagic telangiectasia. 16123970 2005
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 GeneticVariation disease CLINVAR ALK-1 mutations in liver transplanted patients with hereditary hemorrhagic telangiectasia. 16123970 2005
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 GeneticVariation disease BEFREE Single-allele mutations in the ALK1 gene have been linked to the human type 2 hereditary hemorrhagic telangiectasia (HHT2). 16282348 2006
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR Functional analysis of mutations in the kinase domain of the TGF-beta receptor ALK1 reveals different mechanisms for induction of hereditary hemorrhagic telangiectasia. 16282348 2006
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 CausalMutation disease CLINVAR DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population. 16429404 2006
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 GeneticVariation disease CLINVAR Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1. 16470589 2006
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.760 Biomarker disease GENOMICS_ENGLAND Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. 16470787 2006