ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
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 In addition, we modeled effects of GNE/MNK missense mutations associated with HIBM or sialuria on helix arrangement, substrate binding, and enzyme action. 19917666 2010
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.030 Biomarker disease BEFREE The generation of HIBM animal models has led to novel insights into both the disease and the role of GNE/MNK in pathophysiology. 19596068 2009
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.030 GeneticVariation disease BEFREE Mutations in the key enzyme of sialic acid biosynthesis, uridine diphospho-N-acetylglucosamine 2-epimerase/N-acetylmannosamine (ManNAc) kinase (GNE/MNK), result in hereditary inclusion body myopathy (HIBM), an adult-onset, progressive neuromuscular disorder. 17549255 2007