Annotation Detail

Information
Associated Genes
CRYAA
Associated Variants
CRYAA MUTATION
CRYAA MUTATION
Associated Disease
CATARACT, MARNER TYPE
Source Database
DisGeNET
Description
A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract.
Pubmed
25729975
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
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs