Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
0.120 Biomarker disease BEFREE Furthermore, patients presenting with mild cerebral malformations such as subcortical band heterotopia or cerebellar hypoplasia should be considered for genetic analysis of the LIS1 gene. 17664403 2007
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
0.120 Biomarker disease BEFREE Identifying these mechanisms has shed light on typical human neuronal migration disorders such as periventricular heterotopias (disorder of migration initiation linked to filamin), type I lissencephaly (cytoskeletal abnormality linked to Lis1, a microtubule-associated protein), double cortex syndrome (cytoskeletal abnormality linked to doublecortin, a microtubule-associated protein), or lissencephaly plus cerebellar hypoplasia (reelin defect). 16538086 2006
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
0.120 Biomarker disease HPO