ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Disease: OSLER-RENDU-WEBER SYNDROME 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 Biomarker disease CTD_human
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 Biomarker disease CLINGEN Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. 8640225 1996
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 CausalMutation disease CLINVAR Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. 8640225 1996
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 GeneticVariation disease UNIPROT Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. 8640225 1996
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 Biomarker disease CLINGEN The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. 9245985 1997
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 GeneticVariation disease CLINVAR The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. 9245985 1997
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 CausalMutation disease CLINVAR The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. 9245985 1997
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 GeneticVariation disease UNIPROT The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. 9245985 1997
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		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
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		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
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		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
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		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
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		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
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		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
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 GeneticVariation disease UNIPROT Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. 11484689 2001
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 CausalMutation disease CLINVAR Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. 11484689 2001
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 Biomarker disease CLINGEN Extracellular and cytoplasmic domains of endoglin interact with the transforming growth factor-beta receptors I and II. 12015308 2002
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		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
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 Biomarker disease CLINGEN A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2. 12588795 2003
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 CausalMutation disease CLINVAR Disease-associated mutations in conserved residues of ALK-1 kinase domain. 12700602 2003
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		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
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 CausalMutation disease CLINVAR Visceral manifestations in hereditary haemorrhagic telangiectasia type 2. 12843319 2003
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		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
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		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