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COL1A1 and cystic fibrosis are reported together in 1 article.
Gene
COL1A1
- HGNC
- HGNC:2197
32articles
32mentions
10variants with confirmed gene link (top 10)
Most co-reported phenotypes (articles)
Ehlers-Danlos syndrome 3osteogenesis imperfecta 3Duchenne muscular dystrophy 1asthma 1cystic fibrosis 1developmental delay 1endometrial cancer 1hepatocellular carcinoma 1
Reported variants (articles · ClinVar status)
Phenotype
Cystic fibrosis
157articles
157mentions
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 60Calprotectin inhibition attenuates silica-induced lung fibrosis.
PMID 40381145 | DOI 10.1007/s10787-025-01771-5 · Inflammopharmacology · 2025 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL1A1 | “In vitro, stimulation of human bronchial fibroblasts with S100A8/S100A9 upregulated fibrotic markers (COL1A1 and α-SMA), which were reduced by inhibitors of TLR4 and RAGE receptors, as well as by paquinimod.” | 0.98 | hgnc_dict_v1 |
| phenotype | cystic fibrosis | “Calprotectin constitutes up to 45% of these innate immune cells, and serum levels of these alarmins correlate with inflammation, fibrosis, remodelling, and drug response in chronic diseases, including inflammatory bowel disease, asthma, and cystic fibrosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | S100A8 | “Respirable silica exposure adversely affects lung tissue immunopathology, triggering oxidative bursts in macrophages and neutrophils, releasing Damage-associated molecular patterns (DAMPs), including calprotectin proteins, S100A8, and S100A9.” | 0.98 | hgnc_dict_v1 |
| gene | S100A9 | “Respirable silica exposure adversely affects lung tissue immunopathology, triggering oxidative bursts in macrophages and neutrophils, releasing Damage-associated molecular patterns (DAMPs), including calprotectin proteins, S100A8, and S100A9.” | 0.98 | hgnc_dict_v1 |