CRYAB, crystallin alpha B, 1410

N. diseases: 200; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894201
rs104894201
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C1837317
Disease:
Alpha-B Crystallinopathy 		0.800 GeneticVariation UNIPROT A novel CRYAB mutation resulting in multisystemic disease. 21920752 2012
dbSNP: rs150516929
rs150516929
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C3554649
Disease:
CARDIOMYOPATHY, DILATED, 1II 		0.800 GeneticVariation UNIPROT Alpha B-crystallin mutation in dilated cardiomyopathy. 16483541 2006
dbSNP: rs150516929
rs150516929
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C3554649
Disease:
CARDIOMYOPATHY, DILATED, 1II 		0.800 GeneticVariation UNIPROT alphaB-crystallin mutation in dilated cardiomyopathies: low prevalence in a consecutive series of 200 unrelated probands. 16793013 2006
dbSNP: rs104894201
rs104894201
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C1837317
Disease:
Alpha-B Crystallinopathy 		0.800 GeneticVariation UNIPROT Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. 14681890 2003
dbSNP: rs104894201
rs104894201
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C1837317
Disease:
Alpha-B Crystallinopathy 		0.800 GeneticVariation UNIPROT Alteration of protein-protein interactions of congenital cataract crystallin mutants. 12601044 2003
dbSNP: rs104894201
rs104894201
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C1837317
Disease:
Alpha-B Crystallinopathy 		0.800 GeneticVariation UNIPROT A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. 9731540 1998
dbSNP: rs104894201
rs104894201
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C1837317
Disease:
Alpha-B Crystallinopathy 		C 0.800 CausalMutation CLINVAR
dbSNP: rs150516929
rs150516929
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C3554649
Disease:
CARDIOMYOPATHY, DILATED, 1II 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1114167341
rs1114167341
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C1861861
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		0.710 GeneticVariation BEFREE We identified by a next-generation sequencing panel the novel CRYAB missense mutation c.326A>G, p.D109G in a small family with RCM in combination with skeletal myopathy with an early onset of the disease. 28493373 2017
dbSNP: rs1114167341
rs1114167341
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C1861861
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		C 0.710 CausalMutation CLINVAR
dbSNP: rs1114167341
rs1114167341
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C3554649
Disease:
CARDIOMYOPATHY, DILATED, 1II 		C 0.700 GeneticVariation CLINVAR The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy. 28493373 2017
dbSNP: rs1114167341
rs1114167341
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C3554649
Disease:
CARDIOMYOPATHY, DILATED, 1II 		C 0.700 GeneticVariation CLINVAR Targeted next-generation sequencing assay for detection of mutations in primary myopathies. 26627873 2016
dbSNP: rs144451841
rs144451841
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C0009691
Disease:
Congenital cataract 		A 0.700 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
dbSNP: rs281865142
rs281865142
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C3554649
Disease:
CARDIOMYOPATHY, DILATED, 1II 		G 0.700 CausalMutation CLINVAR The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility. 27226619 2016
dbSNP: rs1114167341
rs1114167341
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C3554649
Disease:
CARDIOMYOPATHY, DILATED, 1II 		C 0.700 GeneticVariation CLINVAR Mutants of human αB-crystallin cause enhanced protein aggregation and apoptosis in mammalian cells: influence of co-expression of HspB1. 23194663 2013
dbSNP: rs1114167341
rs1114167341
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C3554649
Disease:
CARDIOMYOPATHY, DILATED, 1II 		C 0.700 GeneticVariation CLINVAR A novel CRYAB mutation resulting in multisystemic disease. 21920752 2012
dbSNP: rs281865142
rs281865142
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C3554649
Disease:
CARDIOMYOPATHY, DILATED, 1II 		G 0.700 CausalMutation CLINVAR Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. 21130652 2011
dbSNP: rs104894201
rs104894201
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C2678065
Disease:
Myofibrillar Myopathy 		C 0.700 CausalMutation CLINVAR
dbSNP: rs104894202
rs104894202
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C1837317
Disease:
Alpha-B Crystallinopathy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs141638421
rs141638421
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C3554649
Disease:
CARDIOMYOPATHY, DILATED, 1II 		0.700 GeneticVariation UNIPROT
dbSNP: rs1566402514
rs1566402514
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C1837317
Disease:
Alpha-B Crystallinopathy 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1566402656
rs1566402656
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C3808377
Disease:
CATARACT 16, MULTIPLE TYPES 		G 0.700 CausalMutation CLINVAR
dbSNP: rs202024436
rs202024436
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C0878544
Disease:
Cardiomyopathies 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs281865141
rs281865141
Entrez Id: 1410;3316;100528019
Gene Symbol: CRYAB;HSPB2;HSPB2-C11orf52
CRYAB;HSPB2;HSPB2-C11orf52
CUI: C2678065
Disease:
Myofibrillar Myopathy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs281865141
rs281865141
Entrez Id: 1410;3316;100528019
Gene Symbol: CRYAB;HSPB2;HSPB2-C11orf52
CRYAB;HSPB2;HSPB2-C11orf52
CUI: C3151236
Disease:
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 		T 0.700 CausalMutation CLINVAR