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: C1868684
Disease:
EAR, PATELLA, SHORT STATURE SYNDROME 		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
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C1868684
Disease:
EAR, PATELLA, SHORT STATURE SYNDROME 		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
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C1868684
Disease:
EAR, PATELLA, SHORT STATURE SYNDROME 		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
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C1868684
Disease:
EAR, PATELLA, SHORT STATURE SYNDROME 		T 0.710 CausalMutation 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: C1868684
Disease:
EAR, PATELLA, SHORT STATURE SYNDROME 		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
dbSNP: rs1378348220
rs1378348220
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1557573504
rs1557573504
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C4552001
Disease:
MEIER-GORLIN SYNDROME 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs143141689
rs143141689
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C1969653
Disease:
MUNGAN SYNDROME 		0.010 GeneticVariation BEFREE The R105Q mutation reduces the hORC1BAH-DNA binding affinity, leading to impaired hORC1BAH-nucleosome interaction, which likely influences DNA replication initiation and MGS pathogenesis. 25689043 2015
dbSNP: rs765136006
rs765136006
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C0599035
Disease:
Hyperornithinemia 		0.010 GeneticVariation BEFREE In this study, we identified a novel p.Ala15Val (c.44C>T) mutation by genomic DNA sequencing in a Turkish child presenting severe tantrum, confusion, gait disturbances and loss of speech abilities in addition to hyperornithinemia, hyperammonemia and homocitrullinuria. 24721342 2014
dbSNP: rs765136006
rs765136006
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C0233558
Disease:
Temper tantrum 		0.010 GeneticVariation BEFREE In this study, we identified a novel p.Ala15Val (c.44C>T) mutation by genomic DNA sequencing in a Turkish child presenting severe tantrum, confusion, gait disturbances and loss of speech abilities in addition to hyperornithinemia, hyperammonemia and homocitrullinuria. 24721342 2014