CDC45, cell division cycle 45, 8318

N. diseases: 102; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146559223
rs146559223
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		T 0.800 GeneticVariation CLINVAR Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. 27374770 2016
dbSNP: rs146559223
rs146559223
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		0.800 GeneticVariation UNIPROT Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. 27374770 2016
dbSNP: rs540217942
rs540217942
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		T 0.800 GeneticVariation CLINVAR Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. 27374770 2016
dbSNP: rs540217942
rs540217942
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		0.800 GeneticVariation UNIPROT Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. 27374770 2016
dbSNP: rs754080445
rs754080445
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		0.800 GeneticVariation UNIPROT Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. 27374770 2016
dbSNP: rs754080445
rs754080445
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		G 0.800 GeneticVariation CLINVAR Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. 27374770 2016
dbSNP: rs879255632
rs879255632
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		0.800 GeneticVariation UNIPROT Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. 27374770 2016
dbSNP: rs879255632
rs879255632
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		C 0.800 GeneticVariation CLINVAR Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. 27374770 2016
dbSNP: rs879255633
rs879255633
Entrez Id: 7353;8318
Gene Symbol: UFD1;CDC45
UFD1;CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		0.800 GeneticVariation UNIPROT Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. 27374770 2016
dbSNP: rs879255633
rs879255633
Entrez Id: 7353;8318
Gene Symbol: UFD1;CDC45
UFD1;CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		G 0.800 GeneticVariation CLINVAR Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. 27374770 2016
dbSNP: rs146559223
rs146559223
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		T 0.800 CausalMutation CLINVAR
dbSNP: rs540217942
rs540217942
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		T 0.800 CausalMutation CLINVAR
dbSNP: rs754080445
rs754080445
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		G 0.800 CausalMutation CLINVAR
dbSNP: rs879255632
rs879255632
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		C 0.800 CausalMutation CLINVAR
dbSNP: rs879255633
rs879255633
Entrez Id: 7353;8318
Gene Symbol: UFD1;CDC45
UFD1;CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		G 0.800 CausalMutation CLINVAR
dbSNP: rs151279621
rs151279621
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		0.700 GeneticVariation UNIPROT Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. 27374770 2016
dbSNP: rs778665661
rs778665661
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		0.700 GeneticVariation UNIPROT Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. 27374770 2016
dbSNP: rs13447287
rs13447287
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C0338656
Disease:
Impaired cognition 		T 0.700 GeneticVariation GWASCAT Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level. 26252872 2015
dbSNP: rs1376596361
rs1376596361
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		0.700 GeneticVariation UNIPROT
dbSNP: rs745800041
rs745800041
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		T 0.700 CausalMutation CLINVAR
dbSNP: rs748749078
rs748749078
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		T 0.700 CausalMutation CLINVAR
dbSNP: rs751663397
rs751663397
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		0.700 GeneticVariation UNIPROT
dbSNP: rs9606030
rs9606030
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		0.700 GeneticVariation UNIPROT
dbSNP: rs1548359
rs1548359
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C0036341
Disease:
Schizophrenia 		0.010 GeneticVariation BEFREE The global chi-square (chi(2)) test showed that the 3-SNP haplotype system was not associated with schizophrenia although the 1-df test for individual haplotypes showed that the rs1548359(C)-rs10314(G)-rs739371(C) haplotype was excessively non-transmitted (chi(2) = 5.32, P = 0.02). 15363474 2004