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IL6ST and skeletal dysplasia are reported together in 1 article.
Gene
IL6ST
- HGNC
- HGNC:6021
1articles
1mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Skeletal dysplasia
49articles
49mentions
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 60Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.
PMID 31914175 | PMCID PMC7062520 | DOI 10.1084/jem.20191306 · The Journal of experimental medicine · 2020 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | IL6ST | “The gene IL6ST encodes GP130, the common signal transducer of the IL-6 cytokine family consisting of 10 cytokines.” | 0.98 | hgnc_dict_v1 |
| phenotype | skeletal dysplasia | “We describe three unrelated families with at least five affected individuals who presented with lethal Stüve-Wiedemann-like syndrome characterized by skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | leukemia | “Functional tests showed absent cellular responses to GP130-dependent cytokines including IL-6, IL-11, IL-27, oncostatin M (OSM), and leukemia inhibitory factor (LIF).” | 0.98 | phenotype_alias_lexicon_v2 |