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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
2 records shown · first 60Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.
PMID 40169658 | PMCID PMC11962170 | DOI 10.1038/s41598-025-85913-3 · Scientific reports · 2025 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | primary congenital glaucoma | “Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.R390H | “R290Pfs36) and c.1169G > A (p.R390H), were also detected in PCG-01 and PCG-04 families, respectively.” | 0.95 | hgvs_regex_v1 |
| gene | CYP1B1 | “A prioritization strategy was employed to identify variants in known PCG-related genes, primarily focusing on CYP1B1.” | 0.98 | hgnc_dict_v1 |
| population | Population | “Despite being a well-known condition, the genetic basis of PCG, particularly in highly consanguineous populations like the Pashtun community, still needs to be explored. Six consanguineous Pashtun families (PCG-01, PCG-02, PCG-03, PCG-04, PCG-05, & PCG-07) suffering from PCG were recruited for whole exome sequencing. R290Pfs36) and c.1169G > A (p.R390H), were also detected in PCG-01 and PCG-04 families, respectively. This study identifies novel pathogenic variants associated with PCG in consanguineous Pashtun families, highlighting the role of CYP1B1 mutations in PCG development.” | 0.80 | saudi_context_rules_v1 |
Screening 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 | R390H | “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 |