Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4173
Gene Symbol: MCM4
MCM4
CUI: C1864947
Disease: Natural Killer Cell Deficiency, Familial Isolated
Natural Killer Cell Deficiency, Familial Isolated 		0.700 GermlineCausalMutation ORPHANET MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. 22354170

2012
Entrez Id: 4173
Gene Symbol: MCM4
MCM4
CUI: C1864947
Disease: Natural Killer Cell Deficiency, Familial Isolated
Natural Killer Cell Deficiency, Familial Isolated 		0.700 GermlineCausalMutation ORPHANET Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. 22405088

2012
Entrez Id: 4173
Gene Symbol: MCM4
MCM4
CUI: C1864947
Disease: Natural Killer Cell Deficiency, Familial Isolated
Natural Killer Cell Deficiency, Familial Isolated 		0.700 Biomarker GENOMICS_ENGLAND A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8. 16532402

2006
Entrez Id: 4173
Gene Symbol: MCM4
MCM4
CUI: C1864947
Disease: Natural Killer Cell Deficiency, Familial Isolated
Natural Killer Cell Deficiency, Familial Isolated 		0.700 CausalMutation CLINVAR

Entrez Id: 4173
Gene Symbol: MCM4
MCM4
CUI: C1864947
Disease: Natural Killer Cell Deficiency, Familial Isolated
Natural Killer Cell Deficiency, Familial Isolated 		0.700 Biomarker CTD_human