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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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F9 and developmental delay are reported together in 1 article.
Gene
F9
- HGNC
- HGNC:3551
4articles
4mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Developmental delay
- HPO
- HP:0001263
480articles
480mentions
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 60SOX3 deletion in mouse and human is associated with persistence of the craniopharyngeal canal.
PMID 25140394 | DOI 10.1210/jc.2014-1160 · The Journal of clinical endocrinology and metabolism · 2014 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | F9 | “PATIENT: We present a young patient with hemophilia B and developmental delay who had a 2.31-Mb deletion on Xq27 including SOX3, F9, and eight other contiguous genes.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “PATIENT: We present a young patient with hemophilia B and developmental delay who had a 2.31-Mb deletion on Xq27 including SOX3, F9, and eight other contiguous genes.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SOX3 | “SOX3 deletion in mouse and human is associated with persistence of the craniopharyngeal canal.” | 0.98 | hgnc_dict_v1 |
| phenotype | hemophilia | “PATIENT: We present a young patient with hemophilia B and developmental delay who had a 2.31-Mb deletion on Xq27 including SOX3, F9, and eight other contiguous genes.” | 0.98 | phenotype_alias_lexicon_v2 |