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RSPH9 and congenital heart disease are reported together in 1 article.
Gene
RSPH9
- HGNC
- HGNC:21057
4articles
4mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Congenital heart disease
363articles
363mentions
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 60Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience.
PMID 34401452 | PMCID PMC8356118 | DOI 10.1016/j.ijpam.2021.03.002 · International journal of pediatrics & adolescent medicine · 2021 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RSPH9 | “RESULTS: In our cohort, 56% of patients had molecularly confirmed PCD, and RSPH9 was the most common gene identified.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital heart disease | “Situs inversus (SI) was observed in 50% of patients, and congenital heart disease was observed in 33%.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | primary ciliary dyskinesia | “Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “We enrolled 18 patients who were diagnosed with confirmed PCD between 2015 and 2019. CONCLUSION: We describe the clinical and molecular characteristics of patients with confirmed PCD in a tertiary centre in Saudi Arabia and report 9 new pathogenic or likely pathogenic variants in one of the PCD-associated genes.” | 0.95 | saudi_context_rules_v1 |