Type	Entity	Source evidence	Confidence	Extractor
gene	IDH1	“Analysis of ALK, IDH1, IDH2 and MMP8 somatic mutations in differentiated thyroid cancers.”	0.98	hgnc_dict_v1
phenotype	lymphoma	“Anaplastic lymphoma kinase (ALK), isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) and matrix metalloproteinase 8 (MMP8) gene mutations have been frequently reported in human cancers; however, to the best of our knowledge, they have not been specifically examined in differentiated thyroid cancers (DTCs).”	0.98	phenotype_alias_lexicon_v2
gene	ALK	“Analysis of ALK, IDH1, IDH2 and MMP8 somatic mutations in differentiated thyroid cancers.”	0.98	hgnc_dict_v1
gene	IDH2	“Analysis of ALK, IDH1, IDH2 and MMP8 somatic mutations in differentiated thyroid cancers.”	0.98	hgnc_dict_v1

PMID 32541138 | DOI 10.1159/000505715 · Acta haematologica · 2020 · 7 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	IDH1	“Here, we describe a young adult patient with a novel combined germline PTPN11 and somatic NPM1, IDH1,and BCL6 mutations who presented with fatal AML.”	0.98	hgnc_dict_v1
phenotype	lymphoma	“While mutations in the transcriptional repressor BCL6 are known to contribute to the pathogenesis of diffuse large B cell lymphoma (DLBCL) and chronic lymphocytic leukemia (CLL), its novel identification in this patient suggests an expanded role in aggressive AML.”	0.98	phenotype_alias_lexicon_v2
gene	PTPN11	“Germline mutations in PTPN11 are the most common cause of NS.”	0.98	hgnc_dict_v1
gene	NPM1	“Somatic mutations in NPM1 occur frequently in AML.”	0.98	hgnc_dict_v1