{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["MADR1","JV4-1"],"biotype":"protein_coding","hgnc_id":"HGNC:6767","gene_name":"SMAD family member 1","omim_gene":["601595"],"alias_name":null,"gene_symbol":"SMAD1","hgnc_symbol":"SMAD1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:146402346-146479231","ensembl_id":"ENSG00000170365"}},"GRch38":{"90":{"location":"4:145481194-145558079","ensembl_id":"ENSG00000170365"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"SMAD1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["21898662","23478097","24355637","24959202","26387786","29650961"],"evidence":["Expert list","Literature"],"phenotypes":["Idiopathic pulmonary arterial hypertension","IPAH","heritable pulmonary arterial hypertension","HPAH"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":193,"hash_id":"58c7f8a78f62033482c42716","name":"Pulmonary arterial hypertension","disease_group":"Cardiovascular disorders","disease_sub_group":"Pulmonary heart disease","status":"public","version":"2.0","version_created":"2019-09-23T17:04:36.560383Z","relevant_disorders":["PAH","R188"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}}]}
