Annotation Detail
Information
- Associated Genes
- PLEKHA7
- Associated Variants
-
PLEKHA7 c.2158-372C>T
(
ENST00000355661.7,
ENST00000532079.1,
ENST00000531066.6,
ENST00000698836.1,
ENST00000696749.1 )
PLEKHA7 c.221+26931A>G ( ENST00000698836.1, ENST00000531066.6, ENST00000355661.7, ENST00000532079.1 )
COL11A1 p.Ser1535Pro (p.S1535P) ( ENST00000358392.6, ENST00000353414.8, ENST00000370096.9, ENST00000512756.5 )
COL11A1 c.3601-4512G>A ( ENST00000370096.9, ENST00000353414.8, ENST00000358392.6, ENST00000512756.5 )
PLEKHA7 c.2158-372C>T ( ENST00000355661.7, ENST00000531066.6, ENST00000532079.1, ENST00000696749.1, ENST00000698836.1 )
PLEKHA7 c.221+26931A>G ( ENST00000355661.7, ENST00000531066.6, ENST00000532079.1, ENST00000698836.1 )
COL11A1 p.Ser1535Pro (p.S1535P) ( ENST00000353414.8, ENST00000358392.6, ENST00000370096.9, ENST00000512756.5 )
COL11A1 c.3601-4512G>A ( ENST00000353414.8, ENST00000358392.6, ENST00000370096.9, ENST00000512756.5 ) - Associated Disease
- Angle Closure Glaucoma
- Source Database
- DisGeNET
- Description
- Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 and rs11024102 in PLEKHA7 are associated with an increased risk of PAC/PACG in the Han Chinese population, supporting prior reports of the association of COL11A1 and PLEKH7 with angle closure glaucoma.
- Pubmed
- 24854855
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.12027144187208
- Year of publication
- 2014
Drugs