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: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 GeneticVariation disease BEFREE Further studies and the accumulation of patients with CDC42 mutations are needed to clarify the phenotype in patients with TKS and the pathophysiological roles of the CDC42 mutation. 29335451 2018
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 Biomarker disease GENOMICS_ENGLAND Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. 29394990 2018
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 Biomarker disease GENOMICS_ENGLAND Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. 26708094 2016
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 GermlineCausalMutation disease ORPHANET Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. 26708094 2016
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 GeneticVariation disease UNIPROT Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. 26708094 2016
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 GermlineCausalMutation disease ORPHANET Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay. 26386261 2015
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 GeneticVariation disease UNIPROT Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay. 26386261 2015
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 CausalMutation disease CLINVAR
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 GeneticVariation disease CLINVAR
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 Biomarker disease CTD_human
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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.350 Biomarker disease BEFREE This study reveals a new role of ZDHHC8-cdc42-palm molecular pathway in postsynaptic structural plasticity and provides new evidence in favor of the dysconnectivity hypothesis for schizophrenia. 27365300 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.350 AlteredExpression disease BEFREE Using laser microdissection, samples of DLPFC deep layer 3 were collected from 56 matched pairs of subjects with schizophrenia and comparison subjects, and levels of CDC42-PAK-LIMK pathway messenger RNAs were measured by quantitative polymerase chain reaction. 25981171 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.350 Biomarker disease PSYGENET These results imply that subchronic MK-801 administration during adolescence might disturb the expression of RhoA, Rac1 and Cdc42 mRNA, and then lead to the decay of the spines in hippocampus, which could be involved in cognitive impairments in schizophrenia. 23747234 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.350 Biomarker disease PSYGENET We found evidence that rs2473307, in strong LD with the schizophrenia associated SNP rs2473277, is a functional variant at CDC42 that may increase risk for schizophrenia by reducing expression of CDC42. 22385474 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.350 GeneticVariation disease BEFREE We found evidence that rs2473307, in strong LD with the schizophrenia associated SNP rs2473277, is a functional variant at CDC42 that may increase risk for schizophrenia by reducing expression of CDC42. 22385474 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.350 Biomarker disease PSYGENET We measured transcript levels of CDC42, CDC42EP3, CDC42EP4; their interacting proteins (septins [SEPT2, 3, 5, 6, 7, 8, and 11], anillin), and other spine-specific proteins (spinophilin, PSD-95, and synaptopodin) in the DLPFC from 31 subjects with schizophrenia and matched normal comparison subjects. 20385374 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.350 AlteredExpression disease BEFREE The expression of CDC42 (cell division cycle 42), a RhoGTPase that regulates the outgrowth of the actin cytoskeleton and promotes spine formation, is also lower in schizophrenia; however, CDC42 mRNA is lower across layers 3-6, suggesting that other lamina-specific molecular alterations are critical for the spine deficits in the illness. 20385374 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.350 AlteredExpression disease BEFREE In order to determine whether the mRNA expression levels of Cdc42, Rac1, RhoA, Duo or drebrin are altered in schizophrenia, tissue sections containing DLPFC area 9 from 15 matched pairs of subjects with schizophrenia and control subjects were processed for in situ hybridization. 16402129 2006
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.350 Biomarker disease PSYGENET The expression of each of these mRNAs was lower in the gray matter of the subjects with schizophrenia compared to the control subjects, although only the reductions in Cdc42 and Duo remained significant after corrections for multiple comparisons. 16402129 2006
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.330 GeneticVariation group BEFREE Eight tumors (including three carcinomas) had many somatic copy number variants (CNVs) with frequent deletion of CDC42 and CDKN2A, amplification of 5q31.2 and protein-altering mutations in TP53 and RB1. 24747643 2014