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FBN1 and congenital cataract are reported together in 1 article.
Gene
FBN1
- HGNC
- HGNC:3603
9articles
9mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Congenital cataract
165articles
165mentions
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 60Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation.
PMID 24698609 | DOI 10.1016/j.jaapos.2013.11.012 · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2014 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FBN1 | “BACKGROUND: Autosomal dominant mutation of the FBN1 gene (fibrillin-1) results in a spectrum of disease (type 1 fibrillopathies) ranging from Marfan syndrome with lens subluxation and cardiovascular complications to milder connective tissues phenotypes.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital cataract | “We report the results of routine FBN1 sequencing for children from inbred families referred with nontraumatic lens subluxation without cataract or vitreoretinal degeneration.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | Marfan syndrome | “BACKGROUND: Autosomal dominant mutation of the FBN1 gene (fibrillin-1) results in a spectrum of disease (type 1 fibrillopathies) ranging from Marfan syndrome with lens subluxation and cardiovascular complications to milder connective tissues phenotypes.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation. RESULTS: Eight identified probands (3-11 years old; 4 boys) from consanguineous and/or endogamous Saudi Arabian families all harbored FBN1 mutation--7 autosomal dominant and 1 autosomal recessive (homozygous).” | 0.95 | saudi_context_rules_v1 |