Annotation Detail

Information
Associated Genes
CYP1B1
Associated Variants
CYP1B1 MUTATION
CYP1B1 MUTATION
Associated Disease
primary congenital glaucoma
Source Database
DisGeNET
Description
This study confirms that CYP1B1 mutations are associated with POAG and PCG in the Pakistani population.
Pubmed
25091052
Section of the abstract supporting the evidence
CONCLUSIONS
Number of the section of the abstract supporting the evidence
7
Number of the sentence supporting the evidence
15
Original source reporting the Gene Disease association
BeFree,GAD
DisGENET score for the Gene Disease association
0.0251681492333475
Drugs