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 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
0.100 CausalMutation phenotype CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014