Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1
CUI: C3888124
Disease: CATARACT 17, MULTIPLE TYPES
CATARACT 17, MULTIPLE TYPES 		0.600 Biomarker GENOMICS_ENGLAND Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities. 29386872

2017
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1
CUI: C3888124
Disease: CATARACT 17, MULTIPLE TYPES
CATARACT 17, MULTIPLE TYPES 		0.600 GeneticVariation 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
CUI: C3888124
Disease: CATARACT 17, MULTIPLE TYPES
CATARACT 17, MULTIPLE TYPES 		0.600 Biomarker GENOMICS_ENGLAND Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. 17460281

2007
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1
CUI: C3888124
Disease: CATARACT 17, MULTIPLE TYPES
CATARACT 17, MULTIPLE TYPES 		0.600 GeneticVariation UNIPROT Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. 17460281

2007
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1
CUI: C3888124
Disease: CATARACT 17, MULTIPLE TYPES
CATARACT 17, MULTIPLE TYPES 		0.600 GeneticVariation 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
CUI: C3888124
Disease: CATARACT 17, MULTIPLE TYPES
CATARACT 17, MULTIPLE TYPES 		0.600 CausalMutation CLINVAR