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: rs1060501420
rs1060501420
Entrez Id: 2022;105379841
Gene Symbol: ENG;LOC105379841
ENG;LOC105379841
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		T 0.700 CausalMutation CLINVAR Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function. 11440987 2001