NCF4, neutrophil cytosolic factor 4, 4689

N. diseases: 58; N. variants: 5
Disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151409
Disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III 		0.600 Biomarker disease GENOMICS_ENGLAND Inherited p40phox deficiency differs from classic chronic granulomatous disease. 29969437 2018
CUI: C3151409
Disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III 		0.600 GeneticVariation disease UNIPROT A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. 19692703 2009
CUI: C3151409
Disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III 		0.600 Biomarker disease GENOMICS_ENGLAND Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 17435756 2007
CUI: C3151409
Disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III 		0.600 Biomarker disease GENOMICS_ENGLAND Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 17435756 2007
CUI: C3151409
Disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III 		0.600 Biomarker disease CTD_human