Annotation Detail

Information
Associated Genes
TIMP1
Associated Variants
SYN1 c.775-8085A>G, TIMP1 p.Phe124= (p.F124=) ( ENST00000295987.13, ENST00000340666.5, ENST00000218388.9, ENST00000377017.5, ENST00000456754.6 )
SYN1 c.775-8085A>G, TIMP1 p.Phe124= (p.F124=) ( ENST00000295987.13, ENST00000340666.5, ENST00000218388.9, ENST00000377017.5, ENST00000456754.6 )
Associated Disease
Glaucoma, Primary Open Angle
Source Database
DisGeNET
Description
Association of MMP1-1607 1G/2G and TIMP1 372 T/C gene polymorphisms with risk of primary open angle glaucoma in a Polish population.
Pubmed
21709637
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2011
Drugs