CRYAB, crystallin alpha B, 1410

N. diseases: 200; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837317
Disease: Alpha-B Crystallinopathy
Alpha-B Crystallinopathy 		0.900 GeneticVariation disease UNIPROT A novel CRYAB mutation resulting in multisystemic disease. 21920752 2012
CUI: C1837317
Disease: Alpha-B Crystallinopathy
Alpha-B Crystallinopathy 		0.900 Biomarker disease MGD A knock-in mouse model for the R120G mutation of αB-crystallin recapitulates human hereditary myopathy and cataracts. 21445271 2011
CUI: C1837317
Disease: Alpha-B Crystallinopathy
Alpha-B Crystallinopathy 		0.900 Biomarker disease GENOMICS_ENGLAND Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy. 21337604 2011
CUI: C1837317
Disease: Alpha-B Crystallinopathy
Alpha-B Crystallinopathy 		0.900 GermlineCausalMutation disease ORPHANET The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. 20171888 2010
CUI: C1837317
Disease: Alpha-B Crystallinopathy
Alpha-B Crystallinopathy 		0.900 GeneticVariation disease UNIPROT Alteration of protein-protein interactions of congenital cataract crystallin mutants. 12601044 2003
CUI: C1837317
Disease: Alpha-B Crystallinopathy
Alpha-B Crystallinopathy 		0.900 GeneticVariation disease UNIPROT Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. 14681890 2003
CUI: C1837317
Disease: Alpha-B Crystallinopathy
Alpha-B Crystallinopathy 		0.900 GeneticVariation disease UNIPROT A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. 9731540 1998
CUI: C1837317
Disease: Alpha-B Crystallinopathy
Alpha-B Crystallinopathy 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1837317
Disease: Alpha-B Crystallinopathy
Alpha-B Crystallinopathy 		0.900 CausalMutation disease CLINVAR
CUI: C1837317
Disease: Alpha-B Crystallinopathy
Alpha-B Crystallinopathy 		0.900 Biomarker disease CTD_human
CUI: C3808377
Disease: CATARACT 16, MULTIPLE TYPES
CATARACT 16, MULTIPLE TYPES 		0.800 Biomarker disease MGD p62 expression and autophagy in αB-crystallin R120G mutant knock-in mouse model of hereditary cataract. 23872361 2013
CUI: C3808377
Disease: CATARACT 16, MULTIPLE TYPES
CATARACT 16, MULTIPLE TYPES 		0.800 Biomarker disease GENOMICS_ENGLAND Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy. 21337604 2011
CUI: C3808377
Disease: CATARACT 16, MULTIPLE TYPES
CATARACT 16, MULTIPLE TYPES 		0.800 Biomarker disease GENOMICS_ENGLAND Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. 11577372 2001
CUI: C3808377
Disease: CATARACT 16, MULTIPLE TYPES
CATARACT 16, MULTIPLE TYPES 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C3808377
Disease: CATARACT 16, MULTIPLE TYPES
CATARACT 16, MULTIPLE TYPES 		0.800 CausalMutation disease CLINVAR
CUI: C3808377
Disease: CATARACT 16, MULTIPLE TYPES
CATARACT 16, MULTIPLE TYPES 		0.800 Biomarker disease CTD_human
CUI: C3554649
Disease: CARDIOMYOPATHY, DILATED, 1II
CARDIOMYOPATHY, DILATED, 1II 		0.700 GeneticVariation disease CLINVAR The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy. 28493373 2017
CUI: C3554649
Disease: CARDIOMYOPATHY, DILATED, 1II
CARDIOMYOPATHY, DILATED, 1II 		0.700 CausalMutation disease CLINVAR The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility. 27226619 2016
CUI: C3554649
Disease: CARDIOMYOPATHY, DILATED, 1II
CARDIOMYOPATHY, DILATED, 1II 		0.700 GeneticVariation disease CLINVAR Targeted next-generation sequencing assay for detection of mutations in primary myopathies. 26627873 2016
CUI: C3554649
Disease: CARDIOMYOPATHY, DILATED, 1II
CARDIOMYOPATHY, DILATED, 1II 		0.700 GeneticVariation disease CLINVAR Mutants of human αB-crystallin cause enhanced protein aggregation and apoptosis in mammalian cells: influence of co-expression of HspB1. 23194663 2013
CUI: C3554649
Disease: CARDIOMYOPATHY, DILATED, 1II
CARDIOMYOPATHY, DILATED, 1II 		0.700 GeneticVariation disease CLINVAR A novel CRYAB mutation resulting in multisystemic disease. 21920752 2012
CUI: C3151236
Disease: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 		0.700 Biomarker disease GENOMICS_ENGLAND Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy. 21337604 2011
CUI: C3151236
Disease: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 		0.700 GermlineCausalMutation disease ORPHANET Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy. 21337604 2011
CUI: C3554649
Disease: CARDIOMYOPATHY, DILATED, 1II
CARDIOMYOPATHY, DILATED, 1II 		0.700 CausalMutation disease CLINVAR Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. 21130652 2011
CUI: C3554649
Disease: CARDIOMYOPATHY, DILATED, 1II
CARDIOMYOPATHY, DILATED, 1II 		0.700 GeneticVariation disease UNIPROT Alpha B-crystallin mutation in dilated cardiomyopathy. 16483541 2006