ORC1, origin recognition complex subunit 1, 4998

N. diseases: 103; N. variants: 8
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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