rs797044870, CDC42

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Monosomy 1p36 deletion syndrome. 17918734 2007
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Involvement of E-cadherin, beta-catenin, Cdc42 and CXCR4 in the progression and prognosis of cutaneous melanoma. 17970806 2007
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR GEFs and GAPs: critical elements in the control of small G proteins. 17540168 2007
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Monosomy 1p36 deletion syndrome. 17918734 2007
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR GEFs and GAPs: critical elements in the control of small G proteins. 17540168 2007
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Cdc42 deficiency causes Sonic hedgehog-independent holoprosencephaly. 17050694 2006
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Cdc42 deficiency causes Sonic hedgehog-independent holoprosencephaly. 17050694 2006
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Rho GTPases and actin dynamics in membrane protrusions and vesicle trafficking. 16949823 2006
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Rho GTPases and actin dynamics in membrane protrusions and vesicle trafficking. 16949823 2006
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Rho GTPases, dendritic structure, and mental retardation. 15884002 2005
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Rho GTPases, dendritic structure, and mental retardation. 15884002 2005
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Overexpression of RhoA, Rac1, and Cdc42 GTPases is associated with progression in testicular cancer. 15269155 2004
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Overexpression of RhoA, Rac1, and Cdc42 GTPases is associated with progression in testicular cancer. 15269155 2004
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. 12915473 2003
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Structural basis of the Rho GTPase signaling. 14561717 2003
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Structural basis of the Rho GTPase signaling. 14561717 2003
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. 12915473 2003
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. 12687501 2003
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. 12687501 2003
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation. 12195014 2002
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Rho GTPases in cell biology. 12478284 2002
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR The evolutionary history of effectors downstream of Cdc42 and Rac. 11864373 2002
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Rho GTPases in cell biology. 12478284 2002
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation. 12195014 2002
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR The evolutionary history of effectors downstream of Cdc42 and Rac. 11864373 2002