Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
0.110 GeneticVariation disease BEFREE GPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral frontoparietal polymicrogyria, white matter abnormalities and cerebellar hypoplasia. 20929962 2010
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
0.110 Biomarker disease HPO