Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
0.700 GeneticVariation disease UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
0.700 GeneticVariation disease UNIPROT Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes. 11133775 2001
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
0.700 Biomarker disease GENOMICS_ENGLAND Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes. 11133775 2001
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
0.700 Biomarker disease GENOMICS_ENGLAND Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease. 10706888 2000
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
0.700 Biomarker disease CTD_human
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
0.700 CausalMutation disease CLINVAR