CRYBB1, crystallin beta B1, 1414

N. diseases: 30; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia
0.300 Biomarker disease CTD_human A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. 12360425 2002