Gene: ORC1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143141689
rs143141689
ORC1
T 0.710 CausalMutation CLINVAR Recent studies have identified several genetic mutations within the BAH domain of human Origin Recognition Complex subunit 1 (hORC1BAH), including the R105Q mutation, implicated in Meier-Gorlin Syndrome (MGS). 25689043

2015
dbSNP: rs143141689
rs143141689
ORC1
0.710 GeneticVariation BEFREE Recent studies have identified several genetic mutations within the BAH domain of human Origin Recognition Complex subunit 1 (hORC1BAH), including the R105Q mutation, implicated in Meier-Gorlin Syndrome (MGS). 25689043

2015
dbSNP: rs143141689
rs143141689
ORC1
T 0.710 CausalMutation CLINVAR Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome. 23516378

2013
dbSNP: rs143141689
rs143141689
ORC1
T 0.710 CausalMutation CLINVAR Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. 22333897

2012
dbSNP: rs143141689
rs143141689
ORC1
T 0.710 CausalMutation CLINVAR Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication. 22855792

2012
dbSNP: rs143141689
rs143141689
ORC1
T 0.710 CausalMutation CLINVAR Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. 21358633

2011