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: rs1565594311
rs1565594311
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		T 0.700 CausalMutation CLINVAR Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations. 16690726 2006
dbSNP: rs1565594311
rs1565594311
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		T 0.700 CausalMutation CLINVAR High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients. 15880681 2005
dbSNP: rs1565594311
rs1565594311
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