CRYBB3, crystallin beta B3, 1417

N. diseases: 10; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857853
Disease: Cataract, Congenital Nuclear, Autosomal Recessive 2
Cataract, Congenital Nuclear, Autosomal Recessive 2 		0.700 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
CUI: C1857853
Disease: Cataract, Congenital Nuclear, Autosomal Recessive 2
Cataract, Congenital Nuclear, Autosomal Recessive 2 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. 15914629 2005
CUI: C1857853
Disease: Cataract, Congenital Nuclear, Autosomal Recessive 2
Cataract, Congenital Nuclear, Autosomal Recessive 2 		0.700 GeneticVariation disease UNIPROT Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. 15914629 2005
CUI: C1857853
Disease: Cataract, Congenital Nuclear, Autosomal Recessive 2
Cataract, Congenital Nuclear, Autosomal Recessive 2 		0.700 Biomarker disease CTD_human
CUI: C1857853
Disease: Cataract, Congenital Nuclear, Autosomal Recessive 2
Cataract, Congenital Nuclear, Autosomal Recessive 2 		0.700 CausalMutation disease CLINVAR
CUI: C1857853
Disease: Cataract, Congenital Nuclear, Autosomal Recessive 2
Cataract, Congenital Nuclear, Autosomal Recessive 2 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1857853
Disease: Cataract, Congenital Nuclear, Autosomal Recessive 2
Cataract, Congenital Nuclear, Autosomal Recessive 2 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.400 GermlineCausalMutation disease ORPHANET Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 23508780 2013
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.400 GermlineCausalMutation disease ORPHANET Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 23508780 2013
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.400 GermlineCausalMutation disease ORPHANET Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. 15914629 2005
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.400 GermlineCausalMutation disease ORPHANET Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. 15914629 2005
CUI: C0158551
Disease: Embryonal nuclear cataract (disorder)
Embryonal nuclear cataract (disorder) 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0158551
Disease: Embryonal nuclear cataract (disorder)
Embryonal nuclear cataract (disorder) 		0.400 Biomarker disease HPO
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.400 Biomarker disease HPO
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.400 Biomarker disease HPO
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
CATARACT, ANTERIOR POLAR 		0.300 GermlineCausalMutation disease ORPHANET Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 23508780 2013
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.120 GeneticVariation disease BEFREE A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts. 27326458 2016
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.120 GeneticVariation disease CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.120 CausalMutation disease CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.120 GeneticVariation disease BEFREE For the first time, a mutation in CRYBB3 is reported in two consanguineous Pakistani families with autosomal recessive congenital cataracts. 15914629 2005
CUI: C0086543
Disease: Cataract
Cataract 		0.040 GeneticVariation disease BEFREE We observed that the four patients with CRYBB3 mutations had three different cataract phenotypes. 27307692 2016
CUI: C0086543
Disease: Cataract
Cataract 		0.040 GeneticVariation disease BEFREE We also tested some polymorphic markers; two (GJA8, CRYBB3) were significantly associated with cataracts. 21873656 2011
CUI: C0086543
Disease: Cataract
Cataract 		0.040 GeneticVariation disease BEFREE Linkage was excluded for the known cataract candidate gene loci at 1p34-36, 1q21-25 (gap junction protein, alpha 8 [GJA8]), 2q33-36 (crystallin, gamma A [CRYGA], crystallin, gamma B [CRYGB], crystallin, gamma C [CRYGC], crystallin, gamma D [CRYGD], crystallin, beta A2 [CRYBA2]), 3q21-22 (beaded filament structural protein 2, phakinin [BFSP2]), 12q12-14 (aquaporin 0 [AQP0]), 13q11-13 (gap junction protein, alpha 3 [GJA3]), 15q21-22, 16q22-23 (v-maf musculoaponeurotic fibrosarcoma oncogene homolog [MAF], heat shock transcription factor 4 [HSF4]), 17q11-12 (crystallin, beta A1 [CRYBA1]), 17q24, 21q22.3 (crystallin, alpha A [CRYAA]), and 22q11.2 (crystallin, beta B1 [CRYBB1], crystallin, beta B2 [CRYBB2], crystallin, beta B3 [CRYBB3], crystallin, beta A4 [CRYBA4]). 19262743 2009
CUI: C0086543
Disease: Cataract
Cataract 		0.040 GeneticVariation disease LHGDN Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. 15914629 2005
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 GeneticVariation disease BEFREE Here, we report a common ancestral mutation in CRYBB3 associated with autosomal recessive congenital cataracts identified in four familial cases of Pakistani origin. 27326458 2016