Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.700 GeneticVariation disease CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.700 Biomarker disease CTD_human
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.700 GermlineCausalMutation disease ORPHANET A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. 22522442 2012
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.700 Biomarker disease GENOMICS_ENGLAND A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. 22522442 2012
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.700 GeneticVariation disease UNIPROT Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. 24627108 2014
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.700 CausalMutation disease CLINVAR Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation. 27083531 2016
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.700 GeneticVariation disease UNIPROT HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum. 25274842 2014
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.700 CausalMutation disease CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.700 CausalMutation disease CLINVAR A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. 22522442 2012
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.700 GeneticVariation disease CLINVAR HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum. 25274842 2014
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.700 GeneticVariation disease UNIPROT A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. 22522442 2012
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.700 GeneticVariation disease CLINVAR A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. 22522442 2012
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.320 Biomarker disease GENOMICS_ENGLAND HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum. 25274842 2014
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.320 GeneticVariation disease BEFREE Mutations in the DNAJB2 gene lead to inherited neuropathies such as Charcot-Marie-Tooth type-2, distal hereditary motor neuropathies, spinal muscular atrophy with parkinsonism and the later stages can resemble amyotrophic lateral sclerosis. 28031292 2017
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.320 Biomarker disease BEFREE HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum. 25274842 2014
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.110 GeneticVariation disease BEFREE Mutations in the DNAJB2 gene lead to inherited neuropathies such as Charcot-Marie-Tooth type-2, distal hereditary motor neuropathies, spinal muscular atrophy with parkinsonism and the later stages can resemble amyotrophic lateral sclerosis. 28031292 2017
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.110 CausalMutation disease CLINVAR
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.110 Biomarker disease HPO
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.110 GeneticVariation disease BEFREE Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism. 27449489 2016
CUI: C4015635
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T 		0.100 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation disease BEFREE Mutations in the DNAJB2 gene lead to inherited neuropathies such as Charcot-Marie-Tooth type-2, distal hereditary motor neuropathies, spinal muscular atrophy with parkinsonism and the later stages can resemble amyotrophic lateral sclerosis. 28031292 2017
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation disease BEFREE Here we show that the molecular chaperone, HSJ1 (DNAJB2), mutations in which cause distal hereditary motor neuropathy, can reduce mutant SOD1 aggregation and improve motor neuron survival in mutant SOD1 models of ALS. 24023695 2013
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.020 GeneticVariation disease BEFREE One family with a dHMN phenotype showed the homozygous splice-site mutation c.229+1G>A, which leads to retention of intron 4 in the HSJ1 messenger RNA with a premature stop codon and loss of protein expression. 25274842 2014
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.020 GeneticVariation disease BEFREE A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. 22522442 2012
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.010 AlteredExpression disease BEFREE Here we identified DNAJB2 expression in regenerating fibers in skeletal muscles of the dystrophic mdx mouse and patients with Duchenne muscular dystrophy. 20395441 2010