CDC42, cell division cycle 42, 998

N. diseases: 327; N. variants: 16
Disease: TAKENOUCHI-KOSAKI SYNDROME ×
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: rs1064795845
rs1064795845
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C4225222
Disease:
TAKENOUCHI-KOSAKI SYNDROME 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553196100
rs1553196100
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C4225222
Disease:
TAKENOUCHI-KOSAKI SYNDROME 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1553196101
rs1553196101
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C4225222
Disease:
TAKENOUCHI-KOSAKI SYNDROME 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553196539
rs1553196539
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C4225222
Disease:
TAKENOUCHI-KOSAKI SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs797044870
rs797044870
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C4225222
Disease:
TAKENOUCHI-KOSAKI SYNDROME 		G 0.700 CausalMutation CLINVAR