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
- endometriosis
- Source Database
- DisGeNET
- Description
- The APEX1 Asp(148)Glu genotype correlates well with its mRNA and protein expression among endometriosis patients and may not serve as a sensitive marker for prediction of endometriosis risk in Taiwan.
- Pubmed
- 25422360
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00290991572276264
- Year of publication
- 2015
Drugs