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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 |
|---|---|---|---|---|
| variant | p.Lys1154Gln | “A novel homozygous missense aberration (p.Lys1154Gln) was identified in both sisters in the DNAH1 gene that segregated completely with the disease phenotype.” | 0.95 | hgvs_regex_v1 |
| gene | DNAH1 | “Variation in DNAH1 may contribute to primary ciliary dyskinesia.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary ciliary dyskinesia | “Variation in DNAH1 may contribute to primary ciliary dyskinesia.” | 0.98 | phenotype_alias_lexicon_v2 |
| 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 |