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: rs1564452747
rs1564452747
Entrez Id: 2022;102723566
Gene Symbol: ENG;LOC102723566
ENG;LOC102723566
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		A 0.700 CausalMutation CLINVAR High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients. 15880681 2005
dbSNP: rs1564452747
rs1564452747
Entrez Id: 2022;102723566
Gene Symbol: ENG;LOC102723566
ENG;LOC102723566
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		A 0.700 CausalMutation CLINVAR Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. 9554745 1998