ORC1, origin recognition complex subunit 1, 4998

N. diseases: 103; N. variants: 8
Disease: MEIER-GORLIN SYNDROME 1 ×
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 GeneticVariation disease CLINVAR A Meier-Gorlin syndrome mutation impairs the ORC1-nucleosome association. 25689043 2015
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		0.600 GeneticVariation disease CLINVAR Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication. 22855792 2012
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		0.600 GeneticVariation disease CLINVAR Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. 23023959 2012
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		0.600 GeneticVariation disease CLINVAR Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		0.600 GeneticVariation disease UNIPROT Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. 21358631 2011
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		0.600 GeneticVariation disease UNIPROT Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		0.600 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: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		0.600 GeneticVariation disease UNIPROT Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. 21358633 2011
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. 21358631 2011
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		0.600 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: C4552001
Disease: MEIER-GORLIN SYNDROME 1
MEIER-GORLIN SYNDROME 1 		0.600 CausalMutation disease CLINVAR