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: rs387906391
rs387906391
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		T 0.700 CausalMutation CLINVAR 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: rs387906391
rs387906391
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		T 0.700 CausalMutation CLINVAR Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. 15024723 2004
dbSNP: rs387906391
rs387906391
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		T 0.700 CausalMutation CLINVAR Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. 10767348 2000
dbSNP: rs387906391
rs387906391
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		T 0.700 CausalMutation CLINVAR Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. 8640225 1996