CDC42, cell division cycle 42, 998

N. diseases: 327; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.430 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
0.430 Biomarker group GENOMICS_ENGLAND Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. 29394990 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.430 GeneticVariation group BEFREE Pathogenic variants in theP21 protein (Cdc42/Rac)-activated kinase 3gene (PAK3) lead to a rare non syndromic X-linked intellectual disability. 28126652 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.430 GeneticVariation group BEFREE Considering the pleiotropic cellular functions of Rho GTPases (Rho, Rac and Cdc42) and their dysregulation in several forms of mental retardation, we have investigated the so far unexplored function of the RhoGAP domain of OCRL1. 12915445 2003
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.430 Biomarker group HPO