Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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