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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 60Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico.
PMID 18414103 | DOI 10.1097/IJG.0b013e31815678c3 · Journal of glaucoma · 2008 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | primary congenital glaucoma | “Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | E387K | “The mutation consisted of a homozygous G to A transition at nucleotide position 1505 in exon 3, which predicted a substitution of glutamic acid for lysine at residue 387 of the protein (E387K).” | 0.82 | literature_variant_regex_v2 |
| gene | CYP1B1 | “Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “PURPOSE: The frequency of primary congenital glaucoma (PCG)-causing CYP1B1 mutations varies importantly among distinct populations, ranging from 20% in Indonesians and Japanese to about 100% among the Saudi Arabians and Slovakian Gypsies. Two cases were familial and with proven consanguinity, originating from distinct regions of the country. RESULTS: An identical pathogenic CYP1B1 mutation was demonstrated in 2 unrelated PCG subjects.” | 0.95 | saudi_context_rules_v1 |