RAC1, Rac family small GTPase 1, 5879

N. diseases: 415; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.450 Biomarker group BEFREE Such insights may have implications for the utility of Rac1 inhibitors in the treatment of intellectual disability caused by <i>Cc2d1a</i> mutations in human patients. 30992372 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.450 GeneticVariation group BEFREE Loss-of-function mutations in RAC1 and other genes of the Rac signaling pathway have been implicated in the pathogenesis of Intellectual Disability (ID). 29740022 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.450 AlteredExpression group BEFREE Misregulated RhoA, Rac1/Rac3 and cdc42 activity has been linked with intellectual disability (ID) and other neurodevelopmental conditions that comprise ID. 29925821 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.450 GeneticVariation group BEFREE An Intellectual Disability-Related Missense Mutation in Rac1 Prevents LTP Induction. 30042656 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.450 Biomarker group GENOMICS_ENGLAND RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. 28886345 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.450 AlteredExpression group BEFREE Non-syndromic mental retardation is not expressed in RAC1 gene polymorphisms. 18440141 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.450 Biomarker group HPO