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COL3A1 and Ehlers-Danlos syndrome are reported together in 1 article.
Gene
COL3A1
- HGNC
- HGNC:2201
12articles
12mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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
1 records shown · first 60Myofibroblast expression in skin wounds is enhanced by collagen III suppression.
PMID 25789326 | PMCID PMC4350964 | DOI 10.1155/2015/958695 · BioMed research international · 2015 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL3A1 | “One exception is seen in patients and animal models of Ehlers-Danlos syndrome type IV in which the COL3A1 gene mutation results in reduced collagen III but with concurrent increased myofibroblast expression.” | 0.98 | hgnc_dict_v1 |
| phenotype | Ehlers-Danlos syndrome | “One exception is seen in patients and animal models of Ehlers-Danlos syndrome type IV in which the COL3A1 gene mutation results in reduced collagen III but with concurrent increased myofibroblast expression.” | 0.98 | phenotype_alias_lexicon_v2 |