Annotation Detail
Information
- Associated Genes
- LOC102724652
- Associated Variants
-
LOC102724652 MUTATION
LOC102724652 MUTATION - Associated Disease
- Congenital cataract
- Source Database
- DisGeNET
- Description
- A novel disease-causing mutation, c.246_248delCGC (p.117delR), of the CRYAA gene has been identified in a Chinese family with autosomal-type perinuclear congenital cataracts.
- Pubmed
- 25729975
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 12
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
Drugs