NCF4, neutrophil cytosolic factor 4, 4689

N. diseases: 58; N. variants: 5
Disease: Crohn's disease of large bowel ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0156147
Disease: Crohn's disease of large bowel
Crohn's disease of large bowel 		0.320 GeneticVariation disease BEFREE Early Onset Granulomatous Colitis Associated with a Mutation in NCF4 Resolved with Hematopoietic Stem Cell Transplantation. 31027832 2019
CUI: C0156147
Disease: Crohn's disease of large bowel
Crohn's disease of large bowel 		0.320 GeneticVariation disease BEFREE We report the first case of autosomal recessive mutations in NCF4, the gene encoding p40(phox), in a boy who presented with granulomatous colitis. 19692703 2009
CUI: C0156147
Disease: Crohn's disease of large bowel
Crohn's disease of large bowel 		0.320 Biomarker disease CTD_human Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 17435756 2007