ORC4, origin recognition complex subunit 4, 5000

N. diseases: 75; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.130 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
0.130 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
0.130 GeneticVariation disease BEFREE Height is dependent on ethnic background and underlying molecular cause, with ORC1 and ORC4 mutations causing more severe short stature and microcephaly. 23023959 2012
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.130 Biomarker disease HPO