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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.

Transparent by designEvery result links extracted entities to its source sentence and publication identifier.

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LACC1 and familial Mediterranean fever are reported together in 1 article.

Gene

LACC1

3articles

3mentions

1variants with confirmed gene link

Most co-reported phenotypes (articles)

Reported variants (articles · ClinVar status)

Phenotype

34articles

34mentions

4co-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 31741047 | DOI 10.1007/s00296-019-04478-3 · Rheumatology international · 2020 · 5 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	LACC1	“The most frequent monogenic SAIDs were LACC1 mediated monogenic disorders (n = 23) followed by CAPS (12), TRAPS (12), HIDS (12), and Majeed's syndrome (6).”	0.98	hgnc_dict_v1
phenotype	familial Mediterranean fever	“Pattern and diagnostic evaluation of systemic autoinflammatory diseases other than familial Mediterranean fever among Arab children: a multicenter study from the Pediatric Rheumatology Arab Group (PRAG).”	0.98	phenotype_alias_lexicon_v2
gene	CAPS	“The most frequent monogenic SAIDs were LACC1 mediated monogenic disorders (n = 23) followed by CAPS (12), TRAPS (12), HIDS (12), and Majeed's syndrome (6).”	0.98	hgnc_dict_v1
phenotype	intellectual disability	“Overall, growth failure was the most frequent accrual damage (36%), followed by cognitive impairment (13%).”	0.93	phenotype_alias_lexicon_v2