Annotation Detail
Information
- Associated Genes
- INSR
- Associated Variants
-
INSR c.1861+56T>C
(
ENST00000302850.10,
ENST00000341500.9 )
THADA c.4059-13560T>G ( ENST00000405006.8, ENST00000405975.7 )
THADA c.3744+4464G>A ( ENST00000405006.8, ENST00000405975.7 )
ENSG00000279956 c.161+4491T>C, LHCGR c.161+4491T>C ( ENST00000294954.12, ENST00000401907.5, ENST00000403273.5, ENST00000405626.5, ENST00000402114.6 )
DENND1A c.303-7710C>T ( ENST00000373618.1, ENST00000373620.7, ENST00000373624.6, ENST00000394215.7 )
AOPEP c.1365-37681G>A ( ENST00000277198.6, ENST00000297979.9, ENST00000375315.8 )
INSR c.1861+56T>C ( ENST00000302850.10, ENST00000341500.9 )
THADA c.4059-13560T>G ( ENST00000405006.8, ENST00000405975.7 )
THADA c.3744+4464G>A ( ENST00000405006.8, ENST00000405975.7 )
ENSG00000279956 c.161+4491T>C, LHCGR c.161+4491T>C ( ENST00000294954.12, ENST00000401907.5, ENST00000403273.5, ENST00000405626.5, ENST00000402114.6 )
DENND1A c.303-7710C>T ( ENST00000373618.1, ENST00000373620.7, ENST00000373624.6, ENST00000394215.7 )
AOPEP c.1365-37681G>A ( ENST00000277198.6, ENST00000297979.9, ENST00000375315.8 ) - Associated Disease
- anovulation
- Source Database
- DisGeNET
- Description
- After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR) (rs13405728), C9orf3 (rs4385527) and insulin receptor gene (INSR) (rs2059807) were strongly associated with OA (Padjust < 0.01, <0.001 and <0.05, respectively); rs4385527 in C9orf3 was strongly associated with HA (Padjust< 0.001); variants in the thyroid adenoma associated gene (THADA) (rs13429458 and rs12478601), DENN/MADD domain containing 1A (DENND1A)(rs10818854), and C9orf3 (rs4385527) were significantly associated with PCOM (Padjust < 0.01, <0.001, <0.05 and <0.001, respectively).
- Pubmed
- 25586784
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2015
Drugs