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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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Phenotype
Primary congenital glaucoma
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 60Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.
PMID 22128238 | PMCID PMC3224840 · Molecular vision · 2011 · 17 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | primary congenital glaucoma | “Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | P437L | “We detected a total of 13 mutations: 9 missense mutations (G61E, A119S, R390H, P437L, D441G, A443G, G466S, G466D, and R469W), 2 deletions (g.4238_4247del and g.7901_7913del), and 2 nonsense mutations (R355X and R444X).” | 0.82 | literature_variant_regex_v2 |
| gene | CYP1B1 | “Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.” | 0.98 | hgnc_dict_v1 |
| gene | LTBP2 | “Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.” | 0.98 | hgnc_dict_v1 |