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: rs1564452075
rs1564452075
Entrez Id: 2022;102723566
Gene Symbol: ENG;LOC102723566
ENG;LOC102723566
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		T 0.700 CausalMutation CLINVAR Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension. 23919827 2013
dbSNP: rs1564452075
rs1564452075
Entrez Id: 2022;102723566
Gene Symbol: ENG;LOC102723566
ENG;LOC102723566
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		T 0.700 CausalMutation CLINVAR Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. 20414677 2010