Gene: CRYBB1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		0.450 GeneticVariation disease BEFREE Cataract-causing mutation S228P promotes βB1-crystallin aggregation and degradation by separating two interacting loops in C-terminal domain. 27318838 2016
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		0.450 GeneticVariation disease LHGDN A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract. 18432316 2008
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		0.450 GeneticVariation disease LHGDN A c.752T-->C mutation in exon 6 of CRYBB1 gene, which resulted in a heterozygous S228P mutation in predicted protein, was found to cosegregate with cataract in the family. 17531125 2007
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		0.450 GeneticVariation disease BEFREE A c.752T-->C mutation in exon 6 of CRYBB1 gene, which resulted in a heterozygous S228P mutation in predicted protein, was found to cosegregate with cataract in the family. 17531125 2007
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		0.450 GeneticVariation disease LHGDN CRYBB1 mutation associated with congenital cataract and microcornea. 16110300 2005
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		0.450 Biomarker disease BEFREE Sequencing failed to detect any nucleotide changes in CRYBA4; however, a G-->T transversion in exon 6 of CRYBB1 was found to cosegregate with cataract in the family. 12360425 2002
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		0.450 Biomarker disease CTD_human This study has identified the first CRYBB1 mutation associated with autosomal dominant cataract in humans. 12360425 2002
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		0.450 Biomarker disease HPO