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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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FGFR2 and primary congenital glaucoma are reported together in 1 article.

Gene

FGFR2

16articles

16mentions

1variants with confirmed gene link

Most co-reported phenotypes (articles)

Reported variants (articles · ClinVar status)

Phenotype

70articles

70mentions

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 29557836 | DOI 10.1097/IJG.0000000000000946 · Journal of glaucoma · 2018 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	FGFR2	“BACKGROUND: Crouzon syndrome is the most common form of craniosynostosis, and mutations in the fibroblast growth factor receptor 2 and 3 (FGFR2 and FGFR3) genes are implicated in its pathogenesis.”	0.98	hgnc_dict_v1
phenotype	primary congenital glaucoma	“OBSERVATION: A 10-year-old female patient with Crouzon syndrome and congenital glaucoma treated with trabeculectomy and ocular hypotensive medications was examined.”	0.93	phenotype_alias_lexicon_v2
gene	FGFR3	“BACKGROUND: Crouzon syndrome is the most common form of craniosynostosis, and mutations in the fibroblast growth factor receptor 2 and 3 (FGFR2 and FGFR3) genes are implicated in its pathogenesis.”	0.98	hgnc_dict_v1
phenotype	congenital cataract	“The patient had proptosis, exposure keratopathy, megalocornea, thin central corneal thickness, a shallow anterior chamber, mild anterior subcapsular cataract, and a cup-to-disc ratio of 0.9.”	0.93	phenotype_alias_lexicon_v2