ORC1, origin recognition complex subunit 1, 4998

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