rs797044870, CDC42

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay. 26386261 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay. 26386261 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Characterization of a Cdc42 protein inhibitor and its use as a molecular probe. 23382385 2013
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Dual lipidation of the brain-specific Cdc42 isoform regulates its functional properties. 24059268 2013
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Dual lipidation of the brain-specific Cdc42 isoform regulates its functional properties. 24059268 2013
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Characterization of a Cdc42 protein inhibitor and its use as a molecular probe. 23382385 2013
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Expression analysis of Cdc42 in lung cancer and modulation of its expression by curcumin in lung cancer cell lines. 22266952 2012
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Expression analysis of Cdc42 in lung cancer and modulation of its expression by curcumin in lung cancer cell lines. 22266952 2012
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Cdc42 in oncogenic transformation, invasion, and tumorigenesis. 21515363 2011
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Local, persistent activation of Rho GTPases during plasticity of single dendritic spines. 21423166 2011
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Cdc42 in oncogenic transformation, invasion, and tumorigenesis. 21515363 2011
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Local, persistent activation of Rho GTPases during plasticity of single dendritic spines. 21423166 2011
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR RHO GTPase signaling for axon extension: is prenylation important? 20878268 2010
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Cdc42 and vesicle trafficking in polarized cells. 20633244 2010
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Cdc42 and vesicle trafficking in polarized cells. 20633244 2010
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR RHO GTPase signaling for axon extension: is prenylation important? 20878268 2010
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Kainic acid-induced F-344 rat model of mesial temporal lobe epilepsy: gene expression and canonical pathways. 19700661 2009
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Kainic acid-induced F-344 rat model of mesial temporal lobe epilepsy: gene expression and canonical pathways. 19700661 2009
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Molecular basis of dendritic arborization. 18511961 2008
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Neural palmitoyl-proteomics reveals dynamic synaptic palmitoylation. 19092927 2008
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. 18245432 2008
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. 18245432 2008
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Neural palmitoyl-proteomics reveals dynamic synaptic palmitoylation. 19092927 2008
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Molecular basis of dendritic arborization. 18511961 2008
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Involvement of E-cadherin, beta-catenin, Cdc42 and CXCR4 in the progression and prognosis of cutaneous melanoma. 17970806 2007