{"count":5,"next":null,"previous":null,"results":[{"gene_data":{"alias":["L-JAK","JAKL","LJAK","JAK3_HUMAN","JAK-3"],"biotype":"protein_coding","hgnc_id":"HGNC:6193","gene_name":"Janus kinase 3","omim_gene":["600173"],"alias_name":["tyrosine-protein kinase JAK3","leukocyte Janus kinase"],"gene_symbol":"JAK3","hgnc_symbol":"JAK3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:17935589-17958880","ensembl_id":"ENSG00000105639"}},"GRch38":{"90":{"location":"19:17824780-17848071","ensembl_id":"ENSG00000105639"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"JAK3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["NHS GMS","North West GLH","London North GLH","IUIS Classification February 2018","Victorian Clinical Genetics Services","Expert Review Green","ESID Registry 20171117","GRID V2.0","GOSH PID v.8.0","SCID v1.6"],"phenotypes":["SCID, autosomal recessive, T-negative/B-positive 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