Advanced search

Combine gene, variant, phenotype, region and year filters

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.
About your search

BCO2 and primary congenital glaucoma are reported together in 1 article.

Gene

BCO2

HGNC
HGNC:18503
3articles
3mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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.

Publications

1 records shown · first 60

Congenital glaucoma and CYP1B1: an old story revisited.

PMID 29556725 | DOI 10.1007/s00439-018-1878-z · Human genetics · 2019 · 14 validated mentions
TypeEntitySource evidenceConfidenceExtractor
geneBCO2“We also encountered candidate causal variants in genes not previously linked to human diseases: BCO2, TULP2, and DGKQ.”0.98hgnc_dict_v1
phenotypeprimary congenital glaucoma“Congenital glaucoma and CYP1B1: an old story revisited.”0.93phenotype_alias_lexicon_v2
geneCYP1B1“Congenital glaucoma and CYP1B1: an old story revisited.”0.98hgnc_dict_v1
geneLTBP2“No mutations in LTBP2, MYOC or TEK were encountered.”0.98hgnc_dict_v1