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: rs863223415
rs863223415
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		CG 0.700 CausalMutation 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
dbSNP: rs863223415
rs863223415
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		CG 0.700 CausalMutation 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
dbSNP: rs863223415
rs863223415
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		C 0.700 CausalMutation CLINVAR