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 Differential localization of Rho GTPases in live cells: regulation by hypervariable regions and RhoGDI binding. 11149925 2001
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Differential localization of Rho GTPases in live cells: regulation by hypervariable regions and RhoGDI binding. 11149925 2001
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Function of Rho family proteins in actin dynamics during phagocytosis and engulfment. 11025683 2000
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Cdc42 is required for PIP(2)-induced actin polymerization and early development but not for cell viability. 10898977 2000
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Function of Rho family proteins in actin dynamics during phagocytosis and engulfment. 11025683 2000
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Cdc42 is required for PIP(2)-induced actin polymerization and early development but not for cell viability. 10898977 2000
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes. 7473653 1995
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes. 7473653 1995
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Clinical and molecular analyses of deletion 3p25-pter syndrome. 8103286 1993
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Clinical and molecular analyses of deletion 3p25-pter syndrome. 8103286 1993
TAKENOUCHI-KOSAKI SYNDROME
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
0.700 CausalMutation CLINVAR