RENBP, renin binding protein, 5973

N. diseases: 156; N. variants: 2
Disease: NONAKA MYOPATHY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.030 GeneticVariation disease BEFREE Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria. 19917666 2010
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.030 GeneticVariation disease BEFREE Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy. 16503651 2006
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.030 GeneticVariation disease BEFREE Hereditary inclusion body myopathy (HIBM) is an autosomal recessive neuromuscular disorder associated with mutations in uridine diphosphate (UDP)-N-acetylglucosamine (GlcNAc) 2-epimerase (GNE)/N-acetylmannosamine (ManNAc) kinase (MNK), the bifunctional and rate-limiting enzyme of sialic acid biosynthesis. 15987957 2005