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MTHFR and primary congenital glaucoma are reported together in 1 article.
Gene
MTHFR
- HGNC
- HGNC:7436
81articles
81mentions
7variants with confirmed gene link
Most co-reported phenotypes (articles)
stroke 9breast cancer 7diabetes mellitus 7coronary artery disease 6hypertension 6obesity 6epilepsy 5autism spectrum disorder 4
Reported variants (articles · ClinVar status)
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 60Genetic Risk Factors and Clinical Implications of Glaucoma in the Saudi Population: A Review.
PMID 42074148 | PMCID PMC13116526 | DOI 10.3390/ijms27083506 · International journal of molecular sciences · 2026 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MTHFR | “The MTHFR T/T genotype, common in European and Asian POAG patients, is entirely absent locally, indicating population-specific allelic distributions that alter folate-metabolism-related optic nerve susceptibility.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “First, CYP1B1 functions as the dominant causal gene across both primary congenital glaucoma (PCG) and juvenile-onset open-angle glaucoma (JOAG), accounting for 76-86% of cases, with two founder alleles, p.G61E (penetrance 87.7%) and p.R469W (penetrance 93%), driving severe, early-onset phenotypes.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | CYP1B1 | “First, CYP1B1 functions as the dominant causal gene across both primary congenital glaucoma (PCG) and juvenile-onset open-angle glaucoma (JOAG), accounting for 76-86% of cases, with two founder alleles, p.G61E (penetrance 87.7%) and p.R469W (penetrance 93%), driving severe, early-onset phenotypes.” | 0.98 | hgnc_dict_v1 |
| gene | MYOC | “Critically, MYOC and LTBP2, the primary JOAG genes in other populations, carry no pathogenic variants in Saudi cohorts, rendering standard multi-ethnic gene panels inadequate for this population.” | 0.98 | hgnc_dict_v1 |