Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
0.110 Biomarker disease BEFREE Haploinsufficiency of USP9X in females has been associated with ID and congenital malformations that include heart defects, scoliosis, dental abnormalities, anal atresia, polydactyly, Dandy Walker malformation and hypoplastic corpus callosum. 28377321 2017
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
0.110 Biomarker disease HPO