ORC1, origin recognition complex subunit 1, 4998

N. diseases: 103; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143141689
rs143141689
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		T 0.800 GeneticVariation CLINVAR A Meier-Gorlin syndrome mutation impairs the ORC1-nucleosome association. 25689043 2015
dbSNP: rs143141689
rs143141689
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		T 0.800 GeneticVariation CLINVAR Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication. 22855792 2012
dbSNP: rs143141689
rs143141689
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		T 0.800 GeneticVariation CLINVAR Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. 23023959 2012
dbSNP: rs143141689
rs143141689
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		T 0.800 GeneticVariation CLINVAR Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
dbSNP: rs143141689
rs143141689
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
dbSNP: rs143141689
rs143141689
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. 21358631 2011
dbSNP: rs143141689
rs143141689
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. 21358633 2011
dbSNP: rs201253919
rs201253919
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
dbSNP: rs201253919
rs201253919
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. 21358631 2011
dbSNP: rs201253919
rs201253919
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. 21358633 2011
dbSNP: rs387906826
rs387906826
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
dbSNP: rs387906826
rs387906826
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. 21358633 2011
dbSNP: rs387906826
rs387906826
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. 21358631 2011
dbSNP: rs387906827
rs387906827
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
dbSNP: rs387906827
rs387906827
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. 21358633 2011
dbSNP: rs387906827
rs387906827
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. 21358631 2011
dbSNP: rs387906828
rs387906828
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. 21358633 2011
dbSNP: rs387906828
rs387906828
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. 21358631 2011
dbSNP: rs387906828
rs387906828
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
dbSNP: rs143141689
rs143141689
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs201253919
rs201253919
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387906826
rs387906826
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs387906827
rs387906827
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs387906828
rs387906828
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs143141689
rs143141689
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C1868684
Disease:
EAR, PATELLA, SHORT STATURE SYNDROME 		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