CDC45, cell division cycle 45, 8318

N. diseases: 102; N. variants: 14
Disease: MEIER-GORLIN SYNDROME 7 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs540217942
rs540217942
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7 		T 0.800 CausalMutation CLINVAR