Annotation Detail
Information
- Associated Genes
- POTEM
- Associated Variants
-
RAN c.*770C>T
(
ENST00000541630.5,
ENST00000543796.6 )
DICER1 c.*3473T>C ( ENST00000531162.7, ENST00000526495.6, ENST00000529720.2, ENST00000674628.2, ENST00000343455.8 )
DICER1 c.*88T>A ( ENST00000393063.6, ENST00000529720.2, ENST00000343455.8, ENST00000527414.5, ENST00000674628.2, ENST00000531162.7, ENST00000526495.6 )
DROSHA c.*92T>C ( ENST00000344624.8, ENST00000511367.6, ENST00000513349.5 )
C5orf22 c.81+58G>C ( ENST00000325366.14 )
XPO5 c.*659A>C ( ENST00000304004.7, ENST00000607635.2, ENST00000643799.1, ENST00000646433.1, ENST00000265351.12 )
XPO5 p.Tyr1101= (p.Y1101=) ( ENST00000304004.7, ENST00000607635.2, ENST00000643799.1, ENST00000646433.1, ENST00000265351.12 )
RAN c.*770C>T ( ENST00000541630.5, ENST00000543796.6 )
DICER1 c.*3473T>C ( ENST00000343455.8, ENST00000526495.6, ENST00000529720.2, ENST00000531162.7, ENST00000674628.2 )
DICER1 c.*88T>A ( ENST00000343455.8, ENST00000393063.6, ENST00000526495.6, ENST00000527414.5, ENST00000529720.2, ENST00000531162.7, ENST00000674628.2 )
DROSHA c.*92T>C ( ENST00000344624.8, ENST00000511367.6, ENST00000513349.5 )
C5orf22 c.81+58G>C ( ENST00000325366.14 )
XPO5 c.*659A>C ( ENST00000304004.7, ENST00000607635.2, ENST00000643799.1, ENST00000646433.1, ENST00000265351.12 )
XPO5 p.Tyr1101= (p.Y1101=) ( ENST00000304004.7, ENST00000607635.2, ENST00000643799.1, ENST00000646433.1, ENST00000265351.12 ) - Associated Disease
- Ovarian Failure, Premature
- Source Database
- DisGeNET
- Description
- A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence.
- Pubmed
- 23549446
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs