CDC42, cell division cycle 42, 998

N. diseases: 327; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864309721
rs864309721
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C4225222
Disease:
TAKENOUCHI-KOSAKI SYNDROME 		0.820 GeneticVariation BEFREE The combined phenotype of thrombocytopenia accompanied by intellectual disability in patients with a de novo heterozygous mutation, i.e., p.Tyr64Cys in CDC42, signifies a clinically recognizable novel syndrome that has been eponymized as "Takenouchi-Kosaki syndrome" (OMIM #616737). 30872706 2019
dbSNP: rs864309721
rs864309721
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C4225222
Disease:
TAKENOUCHI-KOSAKI SYNDROME 		0.820 GeneticVariation BEFREE Thus, despite the heterozygous mutation of CDC42 (p.Tyr64Cys) likely being a hot-spot mutation for TKS, its phenotype may be variable. 29335451 2018
dbSNP: rs864309721
rs864309721
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C4225222
Disease:
TAKENOUCHI-KOSAKI SYNDROME 		0.820 GeneticVariation UNIPROT Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. 26708094 2016
dbSNP: rs864309721
rs864309721
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C4225222
Disease:
TAKENOUCHI-KOSAKI SYNDROME 		0.820 GeneticVariation UNIPROT Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay. 26386261 2015
dbSNP: rs864309721
rs864309721
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C4225222
Disease:
TAKENOUCHI-KOSAKI SYNDROME 		G 0.820 CausalMutation CLINVAR
dbSNP: rs864309721
rs864309721
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C4225222
Disease:
TAKENOUCHI-KOSAKI SYNDROME 		G 0.820 GeneticVariation CLINVAR
dbSNP: rs10917151
rs10917151
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C0014175
Disease:
Endometriosis 		A 0.800 GeneticVariation GWASCAT Genome-wide association study link novel loci to endometriosis. 23472165 2013
dbSNP: rs10917151
rs10917151
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C0014175
Disease:
Endometriosis 		0.800 GeneticVariation GWASDB Genome-wide association study link novel loci to endometriosis. 23472165 2013
dbSNP: rs2501276
rs2501276
Entrez Id: 998;112268223
Gene Symbol: CDC42;CDC42-AS1
CDC42;CDC42-AS1
CUI: C2699541
Disease:
Cytokine Measurement 		A 0.800 GeneticVariation GWASCAT Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502 2012
dbSNP: rs2501276
rs2501276
Entrez Id: 998;112268223
Gene Symbol: CDC42;CDC42-AS1
CDC42;CDC42-AS1
CUI: C2699541
Disease:
Cytokine Measurement 		A 0.800 GeneticVariation GWASDB Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502 2012
dbSNP: rs10917123
rs10917123
Entrez Id: 998;29092;112268223
Gene Symbol: CDC42;LINC00339;CDC42-AS1
CDC42;LINC00339;CDC42-AS1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs10917151
rs10917151
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C2242776
Disease:
Plexiform leiomyoma 		A 0.700 GeneticVariation GWASCAT A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids. 31249589 2019
dbSNP: rs10917151
rs10917151
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C0042133
Disease:
Uterine Fibroids 		A 0.700 GeneticVariation GWASCAT A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids. 31249589 2019
dbSNP: rs2473290
rs2473290
Entrez Id: 998;112268223
Gene Symbol: CDC42;CDC42-AS1
CDC42;CDC42-AS1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10917151
rs10917151
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C2242776
Disease:
Plexiform leiomyoma 		A 0.700 GeneticVariation GWASCAT Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits. 30194396 2018
dbSNP: rs10917151
rs10917151
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C0042133
Disease:
Uterine Fibroids 		A 0.700 GeneticVariation GWASCAT Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits. 30194396 2018
dbSNP: rs10917152
rs10917152
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C0021704
Disease:
Intelligence 		T 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
dbSNP: rs797044870
rs797044870
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay. 26386261 2015
dbSNP: rs797044870
rs797044870
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay. 26386261 2015
dbSNP: rs797044916
rs797044916
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay. 26386261 2015
dbSNP: rs797044870
rs797044870
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Characterization of a Cdc42 protein inhibitor and its use as a molecular probe. 23382385 2013
dbSNP: rs797044870
rs797044870
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Dual lipidation of the brain-specific Cdc42 isoform regulates its functional properties. 24059268 2013
dbSNP: rs797044870
rs797044870
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Dual lipidation of the brain-specific Cdc42 isoform regulates its functional properties. 24059268 2013
dbSNP: rs797044870
rs797044870
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Characterization of a Cdc42 protein inhibitor and its use as a molecular probe. 23382385 2013
dbSNP: rs797044916
rs797044916
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Dual lipidation of the brain-specific Cdc42 isoform regulates its functional properties. 24059268 2013