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PTPN11 and leukemia are reported together in 3 articles.
Gene
PTPN11
- HGNC
- HGNC:9644
11articles
11mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Leukemia
652articles
652mentions
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
3 records shown · first 60Deciphering the structural and dynamic effects of SHP2-E76 mutations: mechanistic insights into oncogenic activation.
PMID 40369628 | PMCID PMC12079960 | DOI 10.1186/s13065-025-01494-2 · BMC chemistry · 2025 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PTPN11 | “The tyrosine phosphatase known as SHP2 is a cytoplasmic protein and encodes by proto-oncogene PTPN11.” | 0.98 | hgnc_dict_v1 |
| phenotype | leukemia | “Specifically, a germline mutation (E76D) in SHP2 is linked to neurodevelopmental disorders, such as Noonan syndrome, while somatic mutations (E76G and E76A) and altered SHP2 expression are implicated in several forms of leukemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Noonan syndrome | “Specifically, a germline mutation (E76D) in SHP2 is linked to neurodevelopmental disorders, such as Noonan syndrome, while somatic mutations (E76G and E76A) and altered SHP2 expression are implicated in several forms of leukemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | neurodevelopmental disorder | “Mutations in SHP2 are frequently associated with human malignancies and neurodevelopmental disorders (NDDs).” | 0.93 | phenotype_alias_lexicon_v2 |
Exploring the interplay between microRNA expression and DNA mutation analysis in AML patients.
PMID 38831894 | PMCID PMC11145380 | DOI 10.1016/j.sjbs.2024.104027 · Saudi journal of biological sciences · 2024 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PTPN11 | “The molecular analysis results unveiled mutations in specific genes (FLT3, KIT, PTPN11, BCR, DNMT3A, and NRAS) targeted by nine microRNAs.” | 0.98 | hgnc_dict_v1 |
| phenotype | leukemia | “Exploring the interplay between microRNA expression and DNA mutation analysis in AML patients.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | CD99 | “Cell surface protein expression analysis revealed upregulation of CD45, CD99, CD34, HLA-DR, CD38, CD13, CD33, MPO, CD15 and CD117 in AML patients.” | 0.98 | hgnc_dict_v1 |
| gene | CD34 | “Cell surface protein expression analysis revealed upregulation of CD45, CD99, CD34, HLA-DR, CD38, CD13, CD33, MPO, CD15 and CD117 in AML patients.” | 0.98 | hgnc_dict_v1 |
Comprehensive 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 | PTPN11 | “Germline mutations in PTPN11 are the most common cause of NS.” | 0.98 | hgnc_dict_v1 |
| phenotype | leukemia | “Comprehensive Genomic Analysis of Noonan Syndrome and Acute Myeloid Leukemia in Adults: A Review and Future Directions.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | NPM1 | “Somatic mutations in NPM1 occur frequently in AML.” | 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 |