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COL18A1 and Marfan syndrome are reported together in 1 article.
Gene
COL18A1
- HGNC
- HGNC:2195
6articles
6mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Marfan syndrome
19articles
19mentions
7co-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 60Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.
PMID 40725504 | PMCID PMC12294696 | DOI 10.3390/genes16070848 · Genes · 2025 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL18A1 | “The causative genes linked to the Knobloch, Marfan, and Pierson syndromes are COL18A1, FBN1, and LAMB2, respectively.” | 0.98 | hgnc_dict_v1 |
| phenotype | Marfan syndrome | “The prevalence of syndromic myopathies in SA, like Stickler syndrome (SS), Knobloch syndrome (KS), and Marfan syndrome (MFS), further complicates the disease spectrum.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | FBN1 | “The causative genes linked to the Knobloch, Marfan, and Pierson syndromes are COL18A1, FBN1, and LAMB2, respectively.” | 0.98 | hgnc_dict_v1 |
| gene | LAMB2 | “The causative genes linked to the Knobloch, Marfan, and Pierson syndromes are COL18A1, FBN1, and LAMB2, respectively.” | 0.98 | hgnc_dict_v1 |