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 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 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 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 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 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 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 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 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 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: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.700 Biomarker disease CTD_human
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 GENOMICS_ENGLAND HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum. 25274842 2014
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: 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: 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: 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: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 Biomarker group HPO
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		0.100 Biomarker phenotype HPO
CUI: C1854494
Disease: Slow progression
Slow progression 		0.100 Biomarker phenotype HPO