Annotation Detail
Information
- Associated Genes
- MSH5
- Associated Variants
-
MLH3 p.Pro844Leu (p.P844L)
(
ENST00000380968.6,
ENST00000355774.7,
ENST00000556257.5 )
MSH5-SAPCD1 p.Pro29Ser (p.P29S), MSH5 p.Pro29Ser (p.P29S) ( ENST00000375703.7, ENST00000375740.7, ENST00000375750.9, ENST00000375755.8, ENST00000493662.6 )
MLH3 p.Pro844Leu (p.P844L) ( ENST00000355774.7, ENST00000380968.6, ENST00000556257.5 )
MSH5-SAPCD1 p.Pro29Ser (p.P29S), MSH5 p.Pro29Ser (p.P29S) ( ENST00000375703.7, ENST00000375740.7, ENST00000375750.9, ENST00000375755.8, ENST00000493662.6 ) - Associated Disease
- oligospermia
- Source Database
- DisGeNET
- Description
- The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia.
- Pubmed
- 19808033
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00290991572276264
- Year of publication
- 2010
Drugs