Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
MTHFR p.Glu474Ala (p.E474A) ( ENST00000376592.6, ENST00000641407.1, ENST00000376590.9, ENST00000423400.7, ENST00000641820.1, ENST00000376583.7, ENST00000376585.6 )
MTHFR p.Glu474Ala (p.E474A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
Associated Disease
oligospermia
Source Database
DisGeNET
Description
The objective of this study was to analyze the distribution of the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in idiopathic infertile Brazilian patients with nonobstructive azoospermia (NOA) or severe oligozoospermia and fertile Brazilian men as controls to explore the possible association of these polymorphisms and male infertility.
Pubmed
21138341
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00818686342412731
Year of publication
2011
Drugs