{"orpha":726004,"name":"Astrocytoma grade 4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-726004/","orphanet_url":"https://www.orpha.net/en/disease/detail/726004","names":{"fr":{"name":"Astrocytome de grade 4"},"de":{"name":"Astrozytom Grad 4"},"es":{"name":"Astrocitoma grado 4"},"it":{"name":"Astrocitoma di grado 4"},"nl":{"name":"Astrocytoom graad 4"},"pt":{"name":"Astrocytoma grade 4"},"pl":{"name":"Astrocytoma grade 4"},"cs":{"name":"Astrocytoma grade 4"}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":251561,"name":"High-grade astrocytoma","classifications":[181,202]}],"children":[],"genes":[{"symbol":"ATRX","name":"ATRX chromatin remodeler","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"35047821[PMID]","hgnc":"886","ensembl":"ENSG00000085224","omim":"300032","loci":["Xq21.1"]},{"symbol":"IDH1","name":"isocitrate dehydrogenase (NADP(+)) 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"37667984[PMID]_33177376[PMID]_31996992[PMID]","hgnc":"5382","ensembl":"ENSG00000138413","omim":"147700","loci":["2q34"]},{"symbol":"IDH2","name":"isocitrate dehydrogenase (NADP(+)) 2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"33177376[PMID]","hgnc":"5383","ensembl":"ENSG00000182054","omim":"147650","loci":["15q26.1"]},{"symbol":"TP53","name":"tumor protein p53","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"37667984[PMID]_33177376[PMID]_31996992[PMID]","hgnc":"11998","ensembl":"ENSG00000141510","omim":"191170","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}