| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.480 | GeneticVariation | disease | BEFREE | Mutations in human γS-crystallin are contingent with childhood cataracts. | 31738854 | 2019 | ||||
|
0.480 | GeneticVariation | disease | BEFREE | Overall, our results establish a direct conformational link between the structure, dynamics, design and function in human γS-crystallin such that the G57W cataract variant promotes enhanced structural excursions concomitant with increased instability, elucidating very crucial molecular details of cataract formation affecting infants across the globe. | 31084934 | 2019 | ||||
|
0.480 | GeneticVariation | disease | BEFREE | Structure of G57W mutant of human γS-crystallin and its involvement in cataract formation. | 30769148 | 2019 | ||||
|
0.480 | GeneticVariation | disease | BEFREE | The cataract-causing mutation G75V promotes γS-crystallin aggregation by modifying and destabilizing the native structure. | 29857103 | 2018 | ||||
|
0.480 | GeneticVariation | disease | BEFREE | The cataract-associated mutant D26G of HGSC is remarkably close to the WT molecule in structural features, with only a microenvironmental change in the packing around the mutation site. | 23761725 | 2013 | ||||
|
0.480 | GeneticVariation | disease | BEFREE | Preferential and specific binding of human αB-crystallin to a cataract-related variant of γS-crystallin. | 24183572 | 2013 | ||||
|
0.480 | AlteredExpression | disease | BEFREE | Removal of Hsf4 leads to cataract development in mice through down-regulation of gamma S-crystallin and Bfsp expression. | 19224648 | 2009 | ||||
|
0.480 | GeneticVariation | disease | BEFREE | The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress. | 19558189 | 2009 | ||||
|
0.480 | Biomarker | disease | CTD_human | This report is the first description of a mutation in CRYGS with autosomal dominant cataract in humans. | 16141006 | 2005 | ||||
|
0.480 | Biomarker | disease | HPO |