Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 ×
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