Annotation Detail

Information
Associated Genes
CYP1B1
Associated Variants
CYP1B1 MUTATION
CYP1B1 MUTATION
Associated Disease
hydrophthalmos
Source Database
DisGeNET
Description
A novel CYP1B1 mutation with congenital glaucoma and total aniridia.
Pubmed
24001018
Section of the abstract supporting the evidence
TITLE
Number of the section of the abstract supporting the evidence
0
Number of the sentence supporting the evidence
0
Original source reporting the Gene Disease association
BeFree,CLINVAR,GAD
DisGENET score for the Gene Disease association
0.134701468354055
Drugs