Disease: Natural Killer Cell Deficiency, Familial Isolated ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864947
Disease: Natural Killer Cell Deficiency, Familial Isolated
Natural Killer Cell Deficiency, Familial Isolated 		0.700 GermlineCausalMutation disease ORPHANET MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. 22354170 2012
CUI: C1864947
Disease: Natural Killer Cell Deficiency, Familial Isolated
Natural Killer Cell Deficiency, Familial Isolated 		0.700 GermlineCausalMutation disease ORPHANET Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. 22405088 2012
CUI: C1864947
Disease: Natural Killer Cell Deficiency, Familial Isolated
Natural Killer Cell Deficiency, Familial Isolated 		0.700 Biomarker disease GENOMICS_ENGLAND A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8. 16532402 2006
CUI: C1864947
Disease: Natural Killer Cell Deficiency, Familial Isolated
Natural Killer Cell Deficiency, Familial Isolated 		0.700 CausalMutation disease CLINVAR
CUI: C1864947
Disease: Natural Killer Cell Deficiency, Familial Isolated
Natural Killer Cell Deficiency, Familial Isolated 		0.700 Biomarker disease CTD_human