Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 GeneticVariation group BEFREE These results suggest that a deficiency in GEF activity underlies the encephalopathy associated eIF2B-related disease. 15054402 2004
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 Biomarker group BEFREE This review focuses on advances in the understanding of the role of eIF2B as a cause of a common leukodystrophy syndrome. eIF2B-related disorders have a clinical spectrum ranging from a severe, rapidly progressive congenital or early infantile encephalopathy to a slowly progressive cognitive and motor deterioration often associated with premature ovarian failure. 15021247 2004
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 GeneticVariation group BEFREE We analyzed the eIF2B genes of nine patients with an antenatal- or early-infantile-onset encephalopathy and an early demise and found mutations in eight of the patients. 14566705 2003