Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
0.500 GeneticVariation disease BEFREE Mutations of HSPB5 (also known as CRYAB or αB-crystallin), a bona fide heat shock protein and molecular chaperone encoded by the HSPB5 (crystallin, alpha B) gene, are linked to multisystem disorders featuring variable combinations of cataracts, cardiomyopathy, and skeletal myopathy. 27226619 2016
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
0.500 GeneticVariation disease BEFREE Physico-chemical properties of G154S, R157H and A171T mutants of αB-crystallin (HspB5) associated with congenital human diseases including certain myopathies and cataract were investigated. 28919577 2017
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
0.500 GeneticVariation disease BEFREE A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family. 25195561 2014