ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
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 GeneticVariation disease CLINVAR Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. 21158752 2011
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 CausalMutation disease CLINVAR Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. 21158752 2011
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 CausalMutation disease CLINVAR Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients. 21378382 2011
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 GeneticVariation disease BEFREE This study gives a preliminary insight into the potential structure of ALK1(EC) and into the structural effects of HHT2 associated mutations, which can be useful to predict the potential effect of each single mutation, to devise new biological experiments and to interpret the biological significance of new mutations, private mutations, or non-synonymous polymorphisms. 22028876 2011
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 CausalMutation disease CLINVAR Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain. 22028876 2011
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 Biomarker disease CLINGEN Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. 20414677 2010
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 CausalMutation disease CLINVAR Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. 20414677 2010
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 Biomarker disease CLINGEN Thalidomide stimulates vessel maturation and reduces epistaxis in individuals with hereditary hemorrhagic telangiectasia. 20364125 2010
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 GeneticVariation disease UNIPROT Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. 20414677 2010
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 CausalMutation disease CLINVAR Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations. 20501893 2010
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 CausalMutation disease CLINVAR Genetics and genomics of pulmonary arterial hypertension. 19555857 2009
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 GeneticVariation disease BEFREE EDTA (ethylene diamine tetraacetic acid) blood samples of 24 patients were sequenced genetically into genotype HHT1 (ENG) vs HHT2 (ALK-1) and mutation type missense vs nonsense. 18855162 2009
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 CausalMutation disease CLINVAR "Mutation analysis of ""Endoglin"" and ""Activin receptor-like kinase"" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique." 19508727 2009
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 CausalMutation disease CLINVAR Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia. 18673552 2008
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 Biomarker disease CLINGEN ALK5- and TGFBR2-independent role of ALK1 in the pathogenesis of hereditary hemorrhagic telangiectasia type 2. 17911384 2008
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 CausalMutation disease CLINVAR Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia. 18498373 2008
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 CausalMutation disease 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
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 CausalMutation disease CLINVAR Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients. 18285823 2008
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 GeneticVariation disease CLINVAR Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. 17384219 2007
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 CausalMutation disease CLINVAR Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. 17786384 2007
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 GeneticVariation disease CLINVAR Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. 17786384 2007
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 Biomarker disease CLINGEN Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. 17384219 2007
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 CausalMutation disease CLINVAR Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. 17384219 2007
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 GeneticVariation disease CLINVAR Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1. 16470589 2006
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		0.760 GeneticVariation disease CLINVAR Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. 15879500 2006