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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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AR and hearing loss are reported together in 1 article.
Gene
AR
- HGNC
- HGNC:644
61articles
61mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Hearing loss
- HPO
- HP:0000365
663articles
663mentions
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 60Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.
PMID 28944242 | PMCID PMC5606890 | DOI 10.1002/mgg3.305 · Molecular genetics & genomic medicine · 2017 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | AR | “Occasionally, bi-allelic mutations in KCNQ1 are also found in patients without any deafness, referred to as autosomal recessive long QT syndrome, type 1 (AR LQT1).” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “Bi-allelic mutations in the KCNQ1 gene are causal to Jervell and Lange-Nielsen syndrome (JLNS), characterized by severe and early-onset arrhythmias with prolonged QTc interval on surface ECG and sensorineural deafness.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | KCNQ1 | “BACKGROUND: One of the most common primary cardiac arrhythmia syndromes is autosomal dominant long QT syndrome, type 1 (LQT1), chiefly caused by mono-allelic mutations in the KCNQ1 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | long QT syndrome | “Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |