Annotation Detail
Information
- Associated Genes
- COL11A1
- 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 loci defined by single nucleotide polymorphisms (SNPs) rs11024102 in PLEKHA7, rs3753841 in COL11A1, and rs1015213 between the PCMTD1 and ST18 genes, recently have been associated with primary angle closure glaucoma (PACG).
- Pubmed
- 23847314
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2013
Drugs