ORC1, origin recognition complex subunit 1, 4998

N. diseases: 103; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		0.600 CausalMutation disease CLINVAR
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.450 GeneticVariation disease BEFREE A form of dwarfism known as Meier-Gorlin syndrome (MGS) is caused by recessive mutations in one of six different genes (ORC1, ORC4, ORC6, CDC6, CDT1, and MCM5). 29036220 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.450 GeneticVariation disease BEFREE Patients with ORC1 and ORC4 mutations appear to have the most severe short stature and microcephaly. 26381604 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.450 Biomarker disease BEFREE Together, our results identify the BAH domain as a novel methyl-lysine-binding module, thereby establishing the first direct link between histone methylation and the metazoan DNA replication machinery, and defining a pivotal aetiological role for the canonical H4K20me2 mark, via ORC1, in primordial dwarfism. 22398447 2012
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.450 GeneticVariation disease BEFREE One individual with ORC1 mutations only had short stature, emphasizing the highly variable clinical spectrum of MGS. 22333897 2012
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.450 GeneticVariation disease BEFREE We suggest that the Orc1 mutations present in some Meier-Gorlin syndrome patients contribute to the pronounced microcephaly and dwarfism observed in these individuals by altering centrosome duplication in addition to DNA replication defects. 22855792 2012
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.450 Biomarker disease CTD_human Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. 21358633 2011
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.450 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 GeneticVariation disease BEFREE Patients with ORC1 and ORC4 mutations appear to have the most severe short stature and microcephaly. 26381604 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 GeneticVariation disease BEFREE We suggest that the Orc1 mutations present in some Meier-Gorlin syndrome patients contribute to the pronounced microcephaly and dwarfism observed in these individuals by altering centrosome duplication in addition to DNA replication defects. 22855792 2012
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 Biomarker disease CTD_human Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. 21358633 2011
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.400 Biomarker phenotype CTD_human Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. 21358633 2011
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker disease GENOMICS_ENGLAND Expression of the HsOrc1 gene, a human ORC1 homolog, is regulated by cell proliferation via the E2F transcription factor. 8943353 1996
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.400 Biomarker phenotype HPO
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker disease HPO
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.310 Biomarker disease GENOMICS_ENGLAND Here we report that mutations in ORC1, encoding a subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. 21358633 2011
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.310 GeneticVariation disease BEFREE Here we report that mutations in ORC1, encoding a subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. 21358633 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.300 Biomarker disease CTD_human Computational Discovery of Niclosamide Ethanolamine, a Repurposed Drug Candidate That Reduces Growth of Hepatocellular Carcinoma Cells In Vitro and in Mice by Inhibiting Cell Division Cycle 37 Signaling. 28284560 2017
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. 21358633 2011
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		0.300 Biomarker disease CTD_human Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. 21358633 2011
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		0.300 Biomarker disease CTD_human Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. 21358633 2011
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.100 Biomarker disease HPO
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		0.100 Biomarker phenotype HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO