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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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CFTR and dyslipidemia are reported together in 1 article.
Gene
CFTR
- HGNC
- HGNC:1884
54articles
54mentions
10variants with confirmed gene link (top 10)
Most co-reported phenotypes (articles)
cystic fibrosis 50infertility 4Duchenne muscular dystrophy 2primary ciliary dyskinesia 2spinal muscular atrophy 2Crohn disease 1breast cancer 1dyslipidemia 1
Reported variants (articles · ClinVar status)
Phenotype
Dyslipidemia
338articles
338mentions
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 60Lipidome Alterations Induced by Cystic Fibrosis, CFTR Mutation, and Lung Function.
PMID 33089695 | DOI 10.1021/acs.jproteome.0c00556 · Journal of proteome research · 2021 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CFTR | “Lipidome Alterations Induced by Cystic Fibrosis, CFTR Mutation, and Lung Function.” | 0.98 | hgnc_dict_v1 |
| phenotype | dyslipidemia | “Cystic fibrosis patients showed dyslipidemia for most lipid subclasses, with significantly elevated odd-chain and polyunsaturated fatty acyl lipids.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | cystic fibrosis | “Lipidome Alterations Induced by Cystic Fibrosis, CFTR Mutation, and Lung Function.” | 0.98 | phenotype_alias_lexicon_v2 |