Annotation Detail
Information
- Associated Genes
- PCMTD1
- Associated Variants
-
PLEKHA7 c.221+26931A>G
(
ENST00000698836.1,
ENST00000531066.6,
ENST00000355661.7,
ENST00000532079.1 )
COL11A1 p.Pro1323Leu (p.P1323L) ( ENST00000353414.8, ENST00000358392.6, ENST00000512756.5, ENST00000370096.9 )
rs1015213
PLEKHA7 c.221+26931A>G ( ENST00000355661.7, ENST00000531066.6, ENST00000532079.1, ENST00000698836.1 )
COL11A1 p.Pro1323Leu (p.P1323L) ( ENST00000353414.8, ENST00000358392.6, ENST00000370096.9, ENST00000512756.5 )
rs1015213 - Associated Disease
- primary angle-closure glaucoma
- Source Database
- DisGeNET
- Description
- Three susceptibility loci for primary angle-closure glaucoma (PACG) were recently identified: PLEKHA7 rs11024102, COL11A1 rs3753841, and rs1015213 located in the intergenic region between PCMTD1 and ST18.
- Pubmed
- 23920366
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2013
Drugs