Annotation Detail
Information
- Associated Genes
- DCLK1
- Associated Variants
-
DCLK1 c.723+33389A>G
(
ENST00000379892.4,
ENST00000360631.8,
ENST00000255448.8 )
rs10483727
RERE c.-144-43054A>G ( ENST00000337907.7, ENST00000400908.7, ENST00000659924.1 )
DCLK1 c.723+33389A>G ( ENST00000255448.8, ENST00000360631.8, ENST00000379892.4 )
rs10483727
RERE c.-144-43054A>G ( ENST00000337907.7, ENST00000400908.7, ENST00000659924.1 ) - Associated Disease
- Glaucoma, Primary Open Angle
- Source Database
- DisGeNET
- Description
- Although the rs10483727 (SIX1), rs1926320 (DCLK1), or rs12025126 (RERE) alone may not be sufficient for the development of POAG, the association of these SNPs with a phenotypic feature in patients with NTG or HTG suggests that these loci contribute to the pathogenesis of POAG.
- Pubmed
- 22584021
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2012
Drugs