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PTPN11 and neurodevelopmental disorder are reported together in 1 article.
Gene
PTPN11
- HGNC
- HGNC:9644
11articles
11mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Neurodevelopmental disorder
- HPO
- HP:0012759
450articles
450mentions
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 |
|---|---|---|---|---|
| gene | PTPN11 | “The tyrosine phosphatase known as SHP2 is a cytoplasmic protein and encodes by proto-oncogene PTPN11.” | 0.98 | hgnc_dict_v1 |
| phenotype | neurodevelopmental disorder | “Mutations in SHP2 are frequently associated with human malignancies and neurodevelopmental disorders (NDDs).” | 0.93 | phenotype_alias_lexicon_v2 |
| 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 |