Disease: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970211
Disease: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 		0.700 GeneticVariation disease CLINVAR PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. 23777631 2013
CUI: C1970211
Disease: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 		0.700 Biomarker disease GENOMICS_ENGLAND The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. 17564964 2007
CUI: C1970211
Disease: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 		0.700 GeneticVariation disease UNIPROT The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. 17564964 2007
CUI: C1970211
Disease: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 		0.700 GermlineCausalMutation disease ORPHANET The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. 17564964 2007
CUI: C1970211
Disease: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 		0.700 Biomarker disease GENOMICS_ENGLAND The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. 17564964 2007
CUI: C1970211
Disease: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 		0.700 GeneticVariation disease CLINVAR The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. 17564964 2007
CUI: C1970211
Disease: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 		0.700 CausalMutation disease CLINVAR
CUI: C1970211
Disease: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 		0.700 Biomarker disease CTD_human