Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly
0.300 Biomarker disease CTD_human Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. 18628313 2008
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly
0.300 Biomarker disease CTD_human Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. 10739753 2000