Annotation Detail
Information
- Associated Genes
- ESR2
- Associated Variants
-
ESR2 c.*39G>A
(
ENST00000556275.5,
ENST00000553796.5,
ENST00000555278.5,
ENST00000353772.7,
ENST00000341099.6,
ENST00000554572.5,
ENST00000557772.5,
ENST00000267525.10,
ENST00000358599.9 )
ESR2 c.535+520C>T ( ENST00000555278.5, ENST00000353772.7, ENST00000341099.6, ENST00000554572.5, ENST00000556275.5, ENST00000553796.5, ENST00000267525.10, ENST00000358599.9, ENST00000557772.5 )
ESR2 c.*39G>A ( ENST00000267525.10, ENST00000341099.6, ENST00000353772.7, ENST00000358599.9, ENST00000553796.5, ENST00000554572.5, ENST00000555278.5, ENST00000556275.5, ENST00000557772.5 )
ESR2 c.535+520C>T ( ENST00000267525.10, ENST00000341099.6, ENST00000353772.7, ENST00000358599.9, ENST00000553796.5, ENST00000554572.5, ENST00000555278.5, ENST00000556275.5, ENST00000557772.5 ) - Associated Disease
- low tension glaucoma
- Source Database
- DisGeNET
- Description
- Four hundred and twenty-five Japanese patients with POAG, including normal-tension glaucoma (NTG, n = 213) and high-tension glaucoma (HTG, n = 212), and 191 control subjects without glaucoma were analyzed for polymorphisms of rs1256031 and rs4986938 in the ESR2 gene.
- Pubmed
- 20399928
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00263847385068233
- Year of publication
- 2010
Drugs