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COL1A2 and Ehlers-Danlos syndrome are reported together in 2 articles.
Gene
COL1A2
- HGNC
- HGNC:2198
10articles
10mentions
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
2 records shown · first 60Clinical utility of chromosomal microarray and whole exome sequencing in evaluating genetic causes for pregnancy loss using products of conception specimens.
PMID 41331780 | DOI 10.1515/jpm-2025-0240 · Journal of perinatal medicine · 2026 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL1A2 | “WES detected pathogenic or likely pathogenic mutations in 21 genes (e.g., KCNQ1, KCNE1, COL1A2, ROBO1) in 18 cases, adding a 10.46 % diagnostic yield.” | 0.98 | hgnc_dict_v1 |
| phenotype | Ehlers-Danlos syndrome | “K-means clustering grouped 17 of these genes into three pathways: chondrocyte differentiation, fibrin clot formation, and Ehlers-Danlos syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | KCNQ1 | “WES detected pathogenic or likely pathogenic mutations in 21 genes (e.g., KCNQ1, KCNE1, COL1A2, ROBO1) in 18 cases, adding a 10.46 % diagnostic yield.” | 0.98 | hgnc_dict_v1 |
| gene | KCNE1 | “WES detected pathogenic or likely pathogenic mutations in 21 genes (e.g., KCNQ1, KCNE1, COL1A2, ROBO1) in 18 cases, adding a 10.46 % diagnostic yield.” | 0.98 | hgnc_dict_v1 |
A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.
PMID 42353838 | PMCID PMC13300355 | DOI 10.3390/genes17060679 · Genes · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL1A2 | “It is typically caused by heterozygous splice-site variants in COL1A1 or COL1A2, leading to exon 6 skipping.” | 0.98 | hgnc_dict_v1 |
| phenotype | Ehlers-Danlos syndrome | “A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | COL1A1 | “A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Autosomal recessive forms are extremely rare and have been reported predominantly in families from Saudi Arabia carrying the homozygous COL1A1 missense variant c.2050G>A, p.(Glu684Lys), with clinical presentations ranging from severe to mild.” | 0.95 | saudi_context_rules_v1 |