Disease: nervous system disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.020 GeneticVariation group BEFREE Here we review recent insights into the subunit organization of the mammalian eIF2B complex, gained both from structural studies of the complex and from studies of mutations of eIF2B that result in the neurological disorder leukoencephalopathy with vanishing white matter (VWM). 26614666 2015
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.020 GeneticVariation group BEFREE Mutations in the genes for eIF2B cause an often severe neurological disorder, "vanishing white matter." eIF2Bγ and eIF2Bε contain homologous and conserved domains with sequence similarity to nucleotidyl transferases (NTs) and acyl transferases and can form a binary complex. 22238342 2012