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IFIH1 and primary congenital glaucoma are reported together in 1 article.
Gene
IFIH1
- HGNC
- HGNC:18873
8articles
8mentions
2variants with confirmed gene link
Most co-reported phenotypes (articles)
developmental delay 2COVID-19 1MERS 1epilepsy 1intellectual disability 1primary congenital glaucoma 1rheumatoid arthritis 1systemic lupus erythematosus 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
1 records shown · first 60Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center.
PMID 29703882 | PMCID PMC5944404 | DOI 10.12659/AJCR.908036 · The American journal of case reports · 2018 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | IFIH1 | “A whole-exome sequencing identified IFIH1 heterozygous missense mutation of the patient, which is associated with AGS Type 7.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | CYP1B1 | “Also, he was diagnosed as having congenital glaucoma with CYP1B1 mutation, homozygous recessive.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Family history was positive for glaucoma, with consanguineously married parents. The aim of this paper is to lay the foundation for a national database on AGS in Saudi Arabia, which will help create a bridge between genetic data and clinical findings of AGS patients.” | 0.95 | saudi_context_rules_v1 |