CRYAA, crystallin alpha A, 1409

N. diseases: 40; N. variants: 18
Disease: Congenital cataract ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515625
rs397515625
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C0009691
Disease:
Congenital cataract 		0.720 GeneticVariation BEFREE Two mutations at arginine 21 in the N-terminal domain of αA-crystallin - αA-R21L and αA-R21W have been associated with congenital cataract. 29782825 2018
dbSNP: rs397515625
rs397515625
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C0009691
Disease:
Congenital cataract 		T 0.720 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
dbSNP: rs397515625
rs397515625
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C0009691
Disease:
Congenital cataract 		0.720 GeneticVariation BEFREE The c.61C>T (p.R21W) mutation in CRYAA has been previously reported in a family with congenital cataract and microcornea. 23441109 2013
dbSNP: rs864309685
rs864309685
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C0009691
Disease:
Congenital cataract 		G 0.700 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
dbSNP: rs1114167311
rs1114167311
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C0009691
Disease:
Congenital cataract 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs397515623
rs397515623
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C0009691
Disease:
Congenital cataract 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397515626
rs397515626
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C0009691
Disease:
Congenital cataract 		0.010 GeneticVariation BEFREE A third mutant of R21, αA-R21Q, was recently identified to be associated with congenital cataract in a South Australian family. 29782825 2018
dbSNP: rs7278468
rs7278468
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C0009691
Disease:
Congenital cataract 		0.010 GeneticVariation BEFREE Our findings demonstrated that CRYAA rs7278468 and CRYAB rs370803064/rs387907338 are correlated with the risk and clinicopathological features of children suffering from congenital cataract. 28640093 2017
dbSNP: rs756635396
rs756635396
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C0009691
Disease:
Congenital cataract 		0.010 GeneticVariation BEFREE The p.(Val50Met) mutation in CRYBA2 cosegregated with disease phenotype in a four-generation pedigree with autosomal dominant congenital cataracts with incomplete penetrance. 23508780 2013
dbSNP: rs143349894
rs143349894
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C0009691
Disease:
Congenital cataract 		0.010 GeneticVariation BEFREE Of the three mutations, two novel heterozygous mutations in GJA8, c.136G>A (p.Gly46Arg) and c.116C>G (p.Thr39Arg), were found in two families with congenital cataract and microcornea. 21686328 2011
dbSNP: rs74315439
rs74315439
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C0009691
Disease:
Congenital cataract 		0.010 GeneticVariation BEFREE The current study extends those findings to the following crystallin genes involved in some congenital cataracts: CRYAA (R116C), CRYAB (R120G), and CRYGC (T5P). 12601044 2003