Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
0.100 CausalMutation phenotype CLINVAR CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. 24884629 2014
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
0.100 CausalMutation phenotype CLINVAR Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 18546297 2008