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
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906808
rs387906808
Entrez Id: 4689;107985578
Gene Symbol: NCF4;NCF4-AS1
NCF4;NCF4-AS1
CUI: C3151409
Disease:
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III 		0.700 GeneticVariation 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