Annotation Detail

Information
Associated Genes
APEX1
Associated Variants
APEX1 MUTATION
APEX1 MUTATION
Associated Disease
Intraocular pressure disorder
Source Database
DisGeNET
Description
Gene-based analysis found suggestive associations between IOP and the genes HAP1, MTBP, FREM3, and PHF12.
Pubmed
25525164
Section of the abstract supporting the evidence
RESULTS
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
7
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs