Disease: Inclusion Body Myopathy, Autosomal Recessive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833373
Disease: Inclusion Body Myopathy, Autosomal Recessive
Inclusion Body Myopathy, Autosomal Recessive 		0.540 GeneticVariation disease BEFREE Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy. 15833430 2005
CUI: C1833373
Disease: Inclusion Body Myopathy, Autosomal Recessive
Inclusion Body Myopathy, Autosomal Recessive 		0.540 GeneticVariation disease BEFREE Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy. 12811782 2003
CUI: C1833373
Disease: Inclusion Body Myopathy, Autosomal Recessive
Inclusion Body Myopathy, Autosomal Recessive 		0.540 GeneticVariation disease BEFREE GNE mutations are known to cause two other disorders: sialuria (OMIM #269921) and autosomal recessive inclusion body myopathy (IBM2, OMIM #600737). 11916006 2002
CUI: C1833373
Disease: Inclusion Body Myopathy, Autosomal Recessive
Inclusion Body Myopathy, Autosomal Recessive 		0.540 Biomarker disease CTD_human An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene. 12473780 2002
CUI: C1833373
Disease: Inclusion Body Myopathy, Autosomal Recessive
Inclusion Body Myopathy, Autosomal Recessive 		0.540 GeneticVariation disease BEFREE Analysis for GNE mutations was performed in an American, non-Iranian Jewish, family with quadriceps-sparing inclusion body myopathy (QS-IBM) and in 11 patients with sporadic IBM (s-IBM). 12473769 2002
CUI: C1833373
Disease: Inclusion Body Myopathy, Autosomal Recessive
Inclusion Body Myopathy, Autosomal Recessive 		0.540 GermlineCausalMutation disease ORPHANET Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). 11916006 2002