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COL5A1 and Ehlers-Danlos syndrome are reported together in 2 articles.
Gene
COL5A1
- HGNC
- HGNC:2209
5articles
5mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Ehlers-Danlos syndrome
19articles
19mentions
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
2 records shown · first 60Intracerebral Hemorrhage in a Middle-Aged Male With Classical Ehlers-Danlos Syndrome in the Absence of Macrovascular Lesions: A Case Report.
PMID 42395220 | PMCID PMC13327669 | DOI 10.7759/cureus.110138 · Cureus · 2026 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL5A1 | “We report a 39-year-old Saudi male with genetically confirmed classical Ehlers-Danlos syndrome (cEDS) associated with COL5A1 variants who presented with acute decreased level of consciousness, expressive aphasia, and mild right-sided weakness.” | 0.98 | hgnc_dict_v1 |
| phenotype | Ehlers-Danlos syndrome | “Intracerebral Hemorrhage in a Middle-Aged Male With Classical Ehlers-Danlos Syndrome in the Absence of Macrovascular Lesions: A Case Report.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “We report a 39-year-old Saudi male with genetically confirmed classical Ehlers-Danlos syndrome (cEDS) associated with COL5A1 variants who presented with acute decreased level of consciousness, expressive aphasia, and mild right-sided weakness.” | 0.95 | saudi_context_rules_v1 |
The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome.
PMID 29250776 | DOI 10.1111/cge.13131 · Clinical genetics · 2018 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL5A1 | “The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | Ehlers-Danlos syndrome | “The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |