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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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Phenotype
Primary ciliary dyskinesia
29articles
29mentions
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 60A Study on the Genetics of Primary Ciliary Dyskinesia.
PMID 34768622 | PMCID PMC8584573 | DOI 10.3390/jcm10215102 · Journal of clinical medicine · 2021 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | primary ciliary dyskinesia | “A Study on the Genetics of Primary Ciliary Dyskinesia.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs558323413 | “Homozygous C1orf127:p.Arg113Ter (rs558323413) was also associated with laterality defects in two related patients.” | 0.90 | hgvs_regex_v1 |
| gene | DNAH11 | “Of the thirteen novel variants, two, c.11839 + 1G > A in dynein, axonemal, heavy chain 11 (DNAH11) and p.Lys92Trpfs in dynein, axonemal, intermediate chain 1 (DNAI1) were associated with dextrocardia with situs inversus, and one, p.Gly21Val in coiled-coil domain-containing protein 40 (CCDC40), with absent inner dynein arms.” | 0.98 | hgnc_dict_v1 |
| gene | DNAI1 | “Of the thirteen novel variants, two, c.11839 + 1G > A in dynein, axonemal, heavy chain 11 (DNAH11) and p.Lys92Trpfs in dynein, axonemal, intermediate chain 1 (DNAI1) were associated with dextrocardia with situs inversus, and one, p.Gly21Val in coiled-coil domain-containing protein 40 (CCDC40), with absent inner dynein arms.” | 0.98 | hgnc_dict_v1 |