{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["p67phox","NOXA2"],"biotype":"protein_coding","hgnc_id":"HGNC:7661","gene_name":"neutrophil cytosolic factor 2","omim_gene":["608515"],"alias_name":["NADPH oxidase activator 2","chronic granulomatous disease, autosomal 2"],"gene_symbol":"NCF2","hgnc_symbol":"NCF2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:183524698-183560011","ensembl_id":"ENSG00000116701"}},"GRch38":{"90":{"location":"1:183555563-183590876","ensembl_id":"ENSG00000116701"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"NCF2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["UKGTN","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","Expert list"],"phenotypes":["Chronic granulomatous disease due to deficiency of 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