ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Disease: OSLER-RENDU-WEBER SYNDROME 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia. 26176610 2015
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. 19553198 2011
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. 20414677 2010
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		A 0.800 CausalMutation CLINVAR Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations. 20501893 2010
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		A 0.800 CausalMutation CLINVAR Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. 16470787 2006
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype. 16752392 2006
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia. 16525724 2006
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations. 15712270 2005
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. 15024723 2004
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. 14684682 2003
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. 11484689 2001
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families. 11170071 2001
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). 10751092 2000
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. 10767348 2000
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation 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
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. 9245985 1997
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. 8640225 1996