{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["RICK","RIP2","CARDIAK","CARD3"],"biotype":"protein_coding","hgnc_id":"HGNC:10020","gene_name":"receptor interacting serine/threonine kinase 2","omim_gene":["603455"],"alias_name":null,"gene_symbol":"RIPK2","hgnc_symbol":"RIPK2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:90769975-90803291","ensembl_id":"ENSG00000104312"}},"GRch38":{"90":{"location":"8:89757747-89791063","ensembl_id":"ENSG00000104312"}}},"hgnc_date_symbol_changed":"1999-05-07"},"entity_type":"gene","entity_name":"RIPK2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 20452301 - RIP2 expression levels significantly increased in colonic mucosa of children with ulcerative colitis compared to controls, and was also upregulated (p<0.01) in the ileum of both pancolitis and left-sided colitis children","PMID: 25213858 - Using these markers and the FDA-approved RIPK2 inhibitor Gefitinib, we show that pharmacologic RIPK2 inhibition drastically improves disease in a spontaneous model of Crohn Disease-like ileitis. Furthermore, using novel RIPK2-specific inhibitors, we show that cellular recruitment is inhibited in an in vivo peritonitis model. Altogether, the data presented in this work provides a strong rationale for further development and optimization of RIPK2-targeted pharmaceuticals and diagnostics","PMID: 20645315 - SNP association study in patients with IBD \"No significant association was observed with IBD, CD, or UC and any single SNP including the nonconservative variant rs2230801...These results indicate that Rip2 does not seem to play a crucial role in the genetic predisposition to IBD.\""],"evidence":["Expert Review Red","Expert list"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":176,"hash_id":"56ba026c22c1fc5025762b50","name":"Infantile enterocolitis & monogenic inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.16","version_created":"2017-11-05T02:37:20.171671Z","relevant_disorders":["Infantile enterocolitis and monogenic inflammatory bowel disease"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}}]}