Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
About your search
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 60Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertility.
PMID 32757986 | PMCID PMC7410224 | DOI 10.5144/0256-4947.2020.321 · Annals of Saudi medicine · 2020 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | cystic fibrosis | “Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertility.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.1210-6T>A | “The detected variants and polymorphisms were: c.1408G>A, c.4389G>A, c.2562T>G, c.869+11C>T, c.2909-92G>A, c.3469-65C>A, c.1210-6delT, c.1210-6T>A, c.2988+1G>A, and c.1210-13GT>TG.” | 0.95 | hgvs_regex_v1 |
| gene | CFTR | “BACKGROUND: Some mutations of the cystic fibrosis transmembrane regulator (CFTR) gene may impair spermatogenesis or cause a congenital absence of the vas deferens that manifests as isolated male infertility.” | 0.98 | hgnc_dict_v1 |
| gene | TG | “The detected variants and polymorphisms were: c.1408G>A, c.4389G>A, c.2562T>G, c.869+11C>T, c.2909-92G>A, c.3469-65C>A, c.1210-6delT, c.1210-6T>A, c.2988+1G>A, and c.1210-13GT>TG.” | 0.98 | hgnc_dict_v1 |