Annotation Detail
Information
- Associated Genes
- KCNJ13
- Associated Variants
-
GIGYF2 c.532+7354G>A, KCNJ13 p.Arg162Trp (p.R162W)
(
ENST00000233826.4,
ENST00000409779.1,
ENST00000410029.1,
ENST00000373563.9,
ENST00000409196.7,
ENST00000409451.7,
ENST00000409480.5,
ENST00000409547.5,
ENST00000629305.2,
ENST00000677591.1,
ENST00000678466.1 )
GIGYF2 c.532+7354G>A, KCNJ13 p.Arg162Trp (p.R162W) ( ENST00000233826.4, ENST00000409779.1, ENST00000410029.1, ENST00000373563.9, ENST00000409196.7, ENST00000409451.7, ENST00000409480.5, ENST00000409547.5, ENST00000629305.2, ENST00000677591.1, ENST00000678466.1 ) - Associated Disease
- Vitreoretinal degeneration
- Source Database
- DisGeNET
- Description
- These results indicate that the KCNJ13 R162W mutation can cause SVD and further show that vitreoretinal degeneration can arise through mutations in genes whose products are not structural components of the vitreous.
- Pubmed
- 18179896
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2008
Drugs