RAC1, Rac family small GTPase 1, 5879

N. diseases: 415; N. variants: 20
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 GeneticVariation disease 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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker disease 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
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker disease HPO