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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 intellectual disability are reported together in 1 article.

Gene

F9

4articles

4mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

736articles

736mentions

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.

1 records shown · first 60

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	intellectual disability	“In humans, over- and underdosage of SOX3 is associated with X-linked hypopituitarism with variable phenotypes ranging from isolated GH deficiency (GHD) to panhypopituitarism, with or without mental retardation and, in most cases, with reported pituitary imaging, an ectopic/undescended posterior pituitary.”	0.93	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