{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["PEN2"],"biotype":"protein_coding","hgnc_id":"HGNC:30100","gene_name":"presenilin enhancer gamma-secretase subunit","omim_gene":["607632"],"alias_name":null,"gene_symbol":"PSENEN","hgnc_symbol":"PSENEN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:36236015-36237911","ensembl_id":"ENSG00000205155"}},"GRch38":{"90":{"location":"19:35745114-35747519","ensembl_id":"ENSG00000205155"}}},"hgnc_date_symbol_changed":"2005-02-08"},"entity_type":"gene","entity_name":"PSENEN","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27900998","21412258","20929727"],"evidence":["Expert Review Green","Literature","Radboud University Medical Center, Nijmegen"],"phenotypes":["Acne inversa, familial, 2, 613736","Acne inversa (AI)","hidradenitis suppurativa"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status 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