Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.120 GeneticVariation disease BEFREE Global inhibition of selenoprotein translation is lethal in the mouse and hypomorphic mutations in selenocysteine synthase in humans leads to Progressive Cerebello Cerebral Atrophy, a neurodevelopmental and neurodegenerative disease in pediatric patients. 22708491 2012
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.120 GeneticVariation disease BEFREE The recent identification of mutations in selenocysteine synthase causing progressive cerebello-cerebral atrophy underlines the central role of selenoproteins in brain development and protection from neurodegeneration. 21670677 2011
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.120 GeneticVariation disease CLINVAR
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.120 Biomarker disease HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.120 CausalMutation disease CLINVAR