COL3A1
HGNC:2201 · SaudiVarKB evidence summary derived from retained literature mentions.
8Gene mentions
8Publications
0Linked variants
7Associated phenotypes
Associated phenotypes
Co-mentioned in COL3A1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 1 | 1 |
| epilepsy | HP:0001250 | 1 | 1 |
| Ehlers-Danlos syndrome | — | 1 | 1 |
| developmental delay | HP:0001263 | 1 | 1 |
| neurodevelopmental disorder | HP:0012759 | 1 | 1 |
| Duchenne muscular dystrophy | — | 1 | 1 |
| prostate cancer | — | 1 | 1 |
Linked variants
Variants normalized to COL3A1| Variant | HGVS / rsID | Articles | Mentions |
|---|
No normalized variants are linked to this gene.
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | — | 1 |
Supporting publications
8 records- 2026Beyond MDM2 amplification: chromosomal translocations as diagnostic drivers in adipocytic tumours-a histopathological and molecular reappraisal.The Malaysian journal of pathologyPubMed ↗
- 2025Seven Hub Genes Associated with Huntington's Disease and Diagnostic and Therapeutic Potentials Identified by Computational Biology.Omics : a journal of integrative biologyPubMed ↗
- 2025Monozygotic twins discordant for juvenile dermatomyositis: clinical, serological and gene expression studies.Pediatric rheumatology online journalPubMed ↗
- 2024Discovering Promising Biomarkers and Therapeutic Targets for Duchenne Muscular Dystrophy: a Multiomics Meta-Analysis Approach.Molecular neurobiologyPubMed ↗
- 2023Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy.GenePubMed ↗
- 2021Monocyte Differentiation into Destructive Macrophages on In Vitro Administration of Gingival Crevicular Fluid from Periodontitis Patients.Journal of personalized medicinePubMed ↗
- 2021Characterisation of Collagen Re-Modelling in Localised Prostate Cancer Using Second-Generation Harmonic Imaging and Transrectal Ultrasound Shear Wave Elastography.CancersPubMed ↗
- 2015Myofibroblast expression in skin wounds is enhanced by collagen III suppression.BioMed research internationalPubMed ↗