Annotation Detail

Information
Associated Genes
COL11A1
Associated Variants
COL11A1 p.Pro1323Leu (p.P1323L) ( ENST00000353414.8, ENST00000358392.6, ENST00000512756.5, ENST00000370096.9 )
COL11A1 p.Pro1323Leu (p.P1323L) ( ENST00000353414.8, ENST00000358392.6, ENST00000370096.9, ENST00000512756.5 )
Associated Disease
glaucoma
Source Database
DisGeNET
Description
Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.
Pubmed
22922875
Original source reporting the Gene Disease association
GWASCAT
DisGENET score for the Gene Disease association
0.120542883744161
Year of publication
2012
Drugs