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RUNX1 and Down syndrome are reported together in 2 articles.
Gene
RUNX1
- HGNC
- HGNC:10471
25articles
25mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
leukemia 14Down syndrome 2breast cancer 1diabetes mellitus 1hepatocellular carcinoma 1myocardial infarction 1rheumatoid arthritis 1
Reported variants (articles · ClinVar status)
Phenotype
Down syndrome
171articles
171mentions
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
2 records shown · first 60SUMO3/RUNX1/AIRE/RCAN1 and DNMT3L/DYRK1A/Let-7c-5p/VEGF axes: immune dysregulation and genetic susceptibility as pulmonary risk factors in Down syndrome.
PMID 42245386 | PMCID PMC13230349 | DOI 10.1007/s13205-026-04879-9 · 3 Biotech · 2026 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RUNX1 | “SUMO3/RUNX1/AIRE/RCAN1 and DNMT3L/DYRK1A/Let-7c-5p/VEGF axes: immune dysregulation and genetic susceptibility as pulmonary risk factors in Down syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | Down syndrome | “SUMO3/RUNX1/AIRE/RCAN1 and DNMT3L/DYRK1A/Let-7c-5p/VEGF axes: immune dysregulation and genetic susceptibility as pulmonary risk factors in Down syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SUMO3 | “SUMO3/RUNX1/AIRE/RCAN1 and DNMT3L/DYRK1A/Let-7c-5p/VEGF axes: immune dysregulation and genetic susceptibility as pulmonary risk factors in Down syndrome.” | 0.98 | hgnc_dict_v1 |
| gene | AIRE | “SUMO3/RUNX1/AIRE/RCAN1 and DNMT3L/DYRK1A/Let-7c-5p/VEGF axes: immune dysregulation and genetic susceptibility as pulmonary risk factors in Down syndrome.” | 0.98 | hgnc_dict_v1 |
Mutations Encountered in Acute Lymphoblastic Leukemia: A Retrospective Study in a Teaching Hospital in Jeddah, Saudi Arabia.
PMID 33542873 | PMCID PMC7849922 | DOI 10.7759/cureus.12426 · Cureus · 2021 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RUNX1 | “Several mutations, including BCR-ABL and ETV6/RUNX1, were more common in B-ALL, whereas the MLL-F0X04mutation was more commonly observed in T-ALL.” | 0.98 | hgnc_dict_v1 |
| phenotype | Down syndrome | “Patients were excluded if they had Down syndrome or central nervous system involvement, Li-Fraumeni syndrome, or neurofibromatosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | ETV6 | “Several mutations, including BCR-ABL and ETV6/RUNX1, were more common in B-ALL, whereas the MLL-F0X04mutation was more commonly observed in T-ALL.” | 0.98 | hgnc_dict_v1 |
| phenotype | leukemia | “Mutations Encountered in Acute Lymphoblastic Leukemia: A Retrospective Study in a Teaching Hospital in Jeddah, Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |