COL1A2
HGNC:2198 · SaudiVarKB evidence summary derived from retained literature mentions.
8Gene mentions
8Publications
0Linked variants
6Associated phenotypes
Associated phenotypes
Co-mentioned in COL1A2 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| osteogenesis imperfecta | — | 3 | 3 |
| Ehlers-Danlos syndrome | — | 2 | 2 |
| developmental delay | HP:0001263 | 1 | 1 |
| Duchenne muscular dystrophy | — | 1 | 1 |
| Turner syndrome | — | 1 | 1 |
| recurrent pregnancy loss | — | 1 | 1 |
Linked variants
Variants normalized to COL1A2| 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 |
|---|---|---|---|
| Saudi Arabia | — | — | 1 |
| Saudi Arabia | — | — | 1 |
| Not specified | — | 18 | 1 |
| Not specified | — | 87 | 1 |
| Not specified | — | 11 | 1 |
Supporting publications
8 records- 2026Clinical utility of chromosomal microarray and whole exome sequencing in evaluating genetic causes for pregnancy loss using products of conception specimens.Journal of perinatal medicinePubMed ↗
- 2026Beyond MDM2 amplification: chromosomal translocations as diagnostic drivers in adipocytic tumours-a histopathological and molecular reappraisal.The Malaysian journal of pathologyPubMed ↗
- 2026A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.GenesPubMed ↗
- 2025Seven Hub Genes Associated with Huntington's Disease and Diagnostic and Therapeutic Potentials Identified by Computational Biology.Omics : a journal of integrative biologyPubMed ↗
- 2024Discovering Promising Biomarkers and Therapeutic Targets for Duchenne Muscular Dystrophy: a Multiomics Meta-Analysis Approach.Molecular neurobiologyPubMed ↗
- 2021Detection of a Recurrent TMEM38B Gene Deletion Associated with Recessive Osteogenesis Imperfecta.Discoveries (Craiova, Romania)PubMed ↗
- 2021Diagnostic utility of next-generation sequence genetic panel testing in children presenting with a clinically significant fracture history.Archives of osteoporosisPubMed ↗
- 2012Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.Journal of medical geneticsPubMed ↗