Gene: NDE1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514037
rs397514037
MYH11 ; NDE1
T 0.700 CausalMutation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016
dbSNP: rs397514037
rs397514037
MYH11 ; NDE1
T 0.700 CausalMutation CLINVAR Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. 21937134

2013
dbSNP: rs397514037
rs397514037
MYH11 ; NDE1
A 0.700 GeneticVariation CLINVAR Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. 16444274

2006
dbSNP: rs397514037
rs397514037
MYH11 ; NDE1
T 0.700 CausalMutation CLINVAR Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. 16444274

2006
dbSNP: rs1567692384
rs1567692384
MYH11 ; NDE1
C 0.700 CausalMutation CLINVAR