Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities. 29386872 2017
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1
0.600 GeneticVariation disease UNIPROT Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 23508780 2013
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1
0.600 Biomarker disease GENOMICS_ENGLAND Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. 17460281 2007
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1
0.600 GeneticVariation disease UNIPROT Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. 17460281 2007
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1
0.600 GeneticVariation disease UNIPROT A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. 12360425 2002
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1
0.600 CausalMutation disease CLINVAR