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COL1A2 and Turner syndrome are reported together in 1 article.
Gene
COL1A2
- HGNC
- HGNC:2198
10articles
10mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Turner syndrome
23articles
23mentions
10co-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 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 | Turner syndrome | “Turner syndrome (5.8 %) and various trisomies (5.8 %) were frequent numerical anomalies.” | 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 |