Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes. 7473653

1995
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Clinical and molecular analyses of deletion 3p25-pter syndrome. 8103286

1993
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Cdc42 is required for PIP(2)-induced actin polymerization and early development but not for cell viability. 10898977

2000
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Function of Rho family proteins in actin dynamics during phagocytosis and engulfment. 11025683

2000
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Differential localization of Rho GTPases in live cells: regulation by hypervariable regions and RhoGDI binding. 11149925

2001
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR The evolutionary history of effectors downstream of Cdc42 and Rac. 11864373

2002
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation. 12195014

2002
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Rho GTPases in cell biology. 12478284

2002
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. 12687501

2003
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. 12915473

2003
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Structural basis of the Rho GTPase signaling. 14561717

2003
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Overexpression of RhoA, Rac1, and Cdc42 GTPases is associated with progression in testicular cancer. 15269155

2004
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Rho GTPases, dendritic structure, and mental retardation. 15884002

2005
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Rho GTPases and actin dynamics in membrane protrusions and vesicle trafficking. 16949823

2006
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Cdc42 deficiency causes Sonic hedgehog-independent holoprosencephaly. 17050694

2006
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR GEFs and GAPs: critical elements in the control of small G proteins. 17540168

2007
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Monosomy 1p36 deletion syndrome. 17918734

2007
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Involvement of E-cadherin, beta-catenin, Cdc42 and CXCR4 in the progression and prognosis of cutaneous melanoma. 17970806

2007
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 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
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Molecular basis of dendritic arborization. 18511961

2008
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Neural palmitoyl-proteomics reveals dynamic synaptic palmitoylation. 19092927

2008
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Kainic acid-induced F-344 rat model of mesial temporal lobe epilepsy: gene expression and canonical pathways. 19700661

2009
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Cdc42 and vesicle trafficking in polarized cells. 20633244

2010
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR RHO GTPase signaling for axon extension: is prenylation important? 20878268

2010
dbSNP: rs797044916
rs797044916
CDC42
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Local, persistent activation of Rho GTPases during plasticity of single dendritic spines. 21423166

2011