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DNAH11 and primary ciliary dyskinesia are reported together in 2 articles.
Gene
DNAH11
- HGNC
- HGNC:2942
3articles
3mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
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
2 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 |
|---|---|---|---|---|
| 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 |
| phenotype | primary ciliary dyskinesia | “A Study on the Genetics of Primary Ciliary Dyskinesia.” | 0.98 | phenotype_alias_lexicon_v2 |
| 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 |
| gene | CCDC40 | “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 |
A genomics approach to females with infertility and recurrent pregnancy loss.
PMID 32172300 | DOI 10.1007/s00439-020-02143-5 · Human genetics · 2020 · 17 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | DNAH11 | “Candidate variants in genes linked to primary ciliary dyskinesia (DNAH11 and CCNO) were identified in individuals with and without systemic features of the disease.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary ciliary dyskinesia | “Candidate variants in genes linked to primary ciliary dyskinesia (DNAH11 and CCNO) were identified in individuals with and without systemic features of the disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | TLE6 | “These include variants in previously established female infertility-related genes (TLE6, NLRP7, FSHR, and ZP1) as well as genes with only tentative links in the literature (NLRP5).” | 0.98 | hgnc_dict_v1 |
| gene | NLRP7 | “These include variants in previously established female infertility-related genes (TLE6, NLRP7, FSHR, and ZP1) as well as genes with only tentative links in the literature (NLRP5).” | 0.98 | hgnc_dict_v1 |