Disease: OVARIOLEUKODYSTROPHY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		0.810 Biomarker disease MGD Astrocytes are central in the pathomechanisms of vanishing white matter. 26974157 2016
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		0.810 Biomarker disease MGD Poor cerebral inflammatory response in eIF2B knock-in mice: implications for the aetiology of vanishing white matter disease. 23056417 2012
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		0.810 GeneticVariation disease BEFREE Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene. 22699478 2011
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		0.810 Biomarker disease MGD A mouse model for eukaryotic translation initiation factor 2B-leucodystrophy reveals abnormal development of brain white matter. 20826436 2010
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		0.810 GermlineCausalMutation disease ORPHANET The effect of genotype on the natural history of eIF2B-related leukodystrophies. 15136673 2004
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		0.810 Biomarker disease CTD_human Ovarian failure related to eukaryotic initiation factor 2B mutations. 12707859 2003
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		0.810 CausalMutation disease CLINVAR