Disease: West Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.120 GeneticVariation disease BEFREE A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms. 24063851 2013
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.120 GeneticVariation disease BEFREE Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome. 24105702 2013
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.120 Biomarker disease HPO