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AKNA and primary ciliary dyskinesia are reported together in 1 article.
Gene
AKNA
- HGNC
- HGNC:24108
1articles
1mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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 60An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
PMID 32367404 | DOI 10.1007/s00439-020-02170-2 · Human genetics · 2020 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | AKNA | “Biallelic likely deleterious variants were also encountered in AKNA and GOLGA3, which we propose as novel candidates in a lung phenotype that overlaps clinically with PCD.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary ciliary dyskinesia | “An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | GOLGA3 | “Biallelic likely deleterious variants were also encountered in AKNA and GOLGA3, which we propose as novel candidates in a lung phenotype that overlaps clinically with PCD.” | 0.98 | hgnc_dict_v1 |
| gene | ITCH | “We also encountered a PCD phenocopy caused by a pathogenic variant in ITCH, and a pathogenic variant in CEP164 causing Bardet-Biedl syndrome and PCD presentation as a very rare example of the dual presentation of these two disorders of the primary and motile cilia.” | 0.98 | hgnc_dict_v1 |