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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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Phenotype
Noonan syndrome
8articles
8mentions
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 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 |
|---|---|---|---|---|
| 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 |
| variant | E76D | “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.” | 0.82 | literature_variant_regex_v2 |
| 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 |