ENG, endoglin, 2022

N. diseases: 371; N. variants: 114
Disease: Hereditary hemorrhagic telangiectasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060501410
rs1060501410
Entrez Id: 2022;105379841
Gene Symbol: ENG;LOC105379841
ENG;LOC105379841
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		T 0.700 CausalMutation CLINVAR Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1. 25970827 2016
dbSNP: rs1060501410
rs1060501410
Entrez Id: 2022;105379841
Gene Symbol: ENG;LOC105379841
ENG;LOC105379841
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		T 0.700 CausalMutation CLINVAR Hereditary hemorrhagic telangiectasia in Japanese patients. 24196379 2014
dbSNP: rs1060501410
rs1060501410
Entrez Id: 2022;105379841
Gene Symbol: ENG;LOC105379841
ENG;LOC105379841
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		T 0.700 CausalMutation CLINVAR Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations. 22991266 2012
dbSNP: rs1060501410
rs1060501410
Entrez Id: 2022;105379841
Gene Symbol: ENG;LOC105379841
ENG;LOC105379841
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		T 0.700 CausalMutation CLINVAR Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation. 19767588 2009
dbSNP: rs1060501410
rs1060501410
Entrez Id: 2022;105379841
Gene Symbol: ENG;LOC105379841
ENG;LOC105379841
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		T 0.700 CausalMutation CLINVAR Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations. 16690726 2006
dbSNP: rs1060501410
rs1060501410
Entrez Id: 2022;105379841
Gene Symbol: ENG;LOC105379841
ENG;LOC105379841
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		T 0.700 CausalMutation CLINVAR Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. 15517393 2005