Disease: Presenile cataract ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Presenile cataract
CUI: C0154971
Disease: Presenile cataract
0.010 GeneticVariation BEFREE The G98R mutation in αA-crystallin is associated with the onset of presenile cataract and is characterized biochemically by an increased oligomeric mass, altered chaperone function, and loss of structural stability over time. 31523965 2019