Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.310 GeneticVariation phenotype BEFREE We report seven individuals with distinct de novo missense RAC1 mutations and varying degrees of developmental delay, brain malformations, and additional phenotypes. 28886345 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.310 Biomarker phenotype GENOMICS_ENGLAND We report seven individuals with distinct de novo missense RAC1 mutations and varying degrees of developmental delay, brain malformations, and additional phenotypes. 28886345 2017