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FOXC1 and primary congenital glaucoma are reported together in 4 articles.
Gene
FOXC1
- HGNC
- HGNC:3800
14articles
14mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
primary congenital glaucoma 4Parkinson disease 1cardiomyopathy 1diabetes mellitus 1intellectual disability 1neurodevelopmental disorder 1renal failure 1
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
4 records shown · first 60Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.
PMID 33641569 | DOI 10.1080/09286586.2021.1883676 · Ophthalmic epidemiology · 2022 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FOXC1 | “Sixty-nine variants were identified in the CYP1B1 gene, five variants were in the MYOC gene and single variants were reported in NTF4, FOXC1, and WDR36 genes.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | CYP1B1 | “Variants in CYP1B1 gene are the most encountered in PCG cases.” | 0.98 | hgnc_dict_v1 |
| gene | MYOC | “Sixty-nine variants were identified in the CYP1B1 gene, five variants were in the MYOC gene and single variants were reported in NTF4, FOXC1, and WDR36 genes.” | 0.98 | hgnc_dict_v1 |
Congenital glaucoma with acquired peripheral circumferential iris degeneration.
PMID 23363883 | DOI 10.1016/j.jaapos.2012.09.011 · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2013 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FOXC1 | “Genetic testing revealed a common homozygous CYP1B1 mutation in one (p.Gly61Glu) and a novel heterozygous FOXC1 deletion in the other (p.Tyr81_Pro95del).” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Congenital glaucoma with acquired peripheral circumferential iris degeneration.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | CYP1B1 | “Genetic testing revealed a common homozygous CYP1B1 mutation in one (p.Gly61Glu) and a novel heterozygous FOXC1 deletion in the other (p.Tyr81_Pro95del).” | 0.98 | hgnc_dict_v1 |
| variant | p.Gly61Glu | “Genetic testing revealed a common homozygous CYP1B1 mutation in one (p.Gly61Glu) and a novel heterozygous FOXC1 deletion in the other (p.Tyr81_Pro95del).” | 0.95 | hgvs_regex_v1 |
Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.
PMID 18484311 | DOI 10.1080/13816810801908152 · Ophthalmic genetics · 2008 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FOXC1 | “Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | PAX6 | “Although the presumed clinical diagnosis was aniridia (On-line Mendelian Inheritance in Man [OMIM] AN2, # 106210), PAX6 sequencing was normal.” | 0.98 | hgnc_dict_v1 |
| variant | M161K | “Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.” | 0.82 | literature_variant_regex_v2 |
Molecular basis of Peters anomaly in Saudi Arabia.
PMID 15621878 | DOI 10.1080/13816810490902648 · Ophthalmic genetics · 2004 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FOXC1 | “The coding exons of FOXC1, PITX2, and PAX6 were screened and those of CYP1B1 and FOXE3 sequenced.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Peters anomaly (PA) and primary congenital glaucoma (PCG) are genetically and phenotypically distinct conditions.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | CYP1B1 | “Mutations in cytochrome P4501B1 (CYP1B1) are the most common cause of PCG in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | PITX2 | “The coding exons of FOXC1, PITX2, and PAX6 were screened and those of CYP1B1 and FOXE3 sequenced.” | 0.98 | hgnc_dict_v1 |