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DNAH1 and infertility are reported together in 1 article.
Gene
DNAH1
- HGNC
- HGNC:2940
2articles
2mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Infertility
199articles
199mentions
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 60Variation in DNAH1 may contribute to primary ciliary dyskinesia.
PMID 25927852 | PMCID PMC4422061 | DOI 10.1186/s12881-015-0162-5 · BMC medical genetics · 2015 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | DNAH1 | “Variation in DNAH1 may contribute to primary ciliary dyskinesia.” | 0.98 | hgnc_dict_v1 |
| phenotype | infertility | “BACKGROUND: Primary Ciliary Dyskinesia (PCD) is a genetically heterogeneous ciliopathy caused by ultrastructural defects in ciliary or flagellar structure and is characterized by a number of clinical symptoms including recurrent respiratory infections progressing to permanent lung damage and infertility.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | primary ciliary dyskinesia | “Variation in DNAH1 may contribute to primary ciliary dyskinesia.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “CASE PRESENTATION: Here we describe our search to delineate the molecular basis in two affected sisters with clinically diagnosed PCD from a consanguineous Saudi Arabian family, in which all known genes have been excluded. A homozygosity mapping-based approach was utilized that ultimately identified one single affected-shared region of homozygosity using 10 additional unaffected family members.” | 0.95 | saudi_context_rules_v1 |