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: rs1060501408
rs1060501408
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		A 0.700 CausalMutation CLINVAR Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia. 21967607 2011
dbSNP: rs1060501408
rs1060501408
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		A 0.700 CausalMutation CLINVAR 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia. 22192717 2011