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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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NPM1 and lymphoma are reported together in 1 article.
Gene
NPM1
- HGNC
- HGNC:7910
15articles
15mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Lymphoma
428articles
428mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Comprehensive Genomic Analysis of Noonan Syndrome and Acute Myeloid Leukemia in Adults: A Review and Future Directions.
PMID 32541138 | DOI 10.1159/000505715 · Acta haematologica · 2020 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NPM1 | “Somatic mutations in NPM1 occur frequently in 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 | 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 |