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COL2A1 and hearing loss are reported together in 1 article.
Gene
COL2A1
- HGNC
- HGNC:2200
7articles
7mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Hearing loss
- HPO
- HP:0000365
663articles
663mentions
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 60Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.
PMID 41715899 | PMCID PMC12930911 | DOI 10.12659/AJCR.951257 · The American journal of case reports · 2026 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL2A1 | “Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “It is characterized by a distinctive craniofacial appearance, high myopia, vitreoretinal degeneration, hearing loss, and early-onset arthritis.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | COL11A1 | “BACKGROUND Stickler syndrome is a genetically heterogeneous connective tissue disorder caused by mutations in collagen genes (COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2).” | 0.98 | hgnc_dict_v1 |
| gene | COL11A2 | “BACKGROUND Stickler syndrome is a genetically heterogeneous connective tissue disorder caused by mutations in collagen genes (COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2).” | 0.98 | hgnc_dict_v1 |