Annotation Detail
Information
- Associated Genes
- APEX1
- Associated Variants
-
APEX1 p.Asp148Glu (p.D148E)
(
ENST00000557054.1,
ENST00000398030.8,
ENST00000216714.8,
ENST00000555414.5 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000555414.5, ENST00000216714.8, ENST00000557054.1, ENST00000398030.8 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 ) - Associated Disease
- Amyotrophic Lateral Sclerosis, Sporadic
- Source Database
- DisGeNET
- Description
- Lack of association between the APEX1 Asp148Glu polymorphism and sporadic amyotrophic lateral sclerosis.
- Pubmed
- 18482781
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2010
Drugs