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NOS1AP and long QT syndrome are reported together in 2 articles.
Gene
NOS1AP
- HGNC
- HGNC:16859
5articles
5mentions
2variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Long QT syndrome
44articles
44mentions
10co-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
2 records shown · first 60Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.
PMID 25737393 | PMCID PMC4770255 | DOI 10.1161/CIRCGENETICS.114.000785 · Circulation. Cardiovascular genetics · 2015 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NOS1AP | “In an analysis for quantitative effects on the QTc-interval, 3 independent SNPs at NOS1AP (rs10494366, P=9.5×10(-8); rs12143842, P=4.8×10(-7); and rs2880058, P=8.6×10(-7)) were strongly associated with the QTc-interval with marked effects (>12 ms/allele).” | 0.98 | hgnc_dict_v1 |
| phenotype | long QT syndrome | “Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | KCNH2 | “METHODS AND RESULTS: We searched for single-nucleotide polymorphisms (SNPs) that modulate the corrected QT (QTc)-interval and the occurrence of cardiac events in 639 patients harboring different mutations in KCNH2.” | 0.98 | hgnc_dict_v1 |
| gene | KCNQ1 | “Analysis of patients versus general population controls uncovered enrichment of QTc-prolonging alleles in patients for 2 SNPs, located respectively at NOS1AP (rs12029454; odds ratio, 1.85; 95% confidence interval, 1.32-2.59; P=3×10(-4)) and KCNQ1 (rs12576239; odds ratio, 1.84; 95% confidence interval, 1.31-2.60; P=5×10(-4)).” | 0.98 | hgnc_dict_v1 |
Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.
PMID 22708720 | DOI 10.1111/j.1399-0004.2012.01914.x · Clinical genetics · 2013 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NOS1AP | “Screening the family members for three LQTS modifiers (rs4657139 and rs16847548 in NOS1AP and KCNE1-D85N) did not reveal a correlation with symptoms or QTc intervals.” | 0.98 | hgnc_dict_v1 |
| phenotype | long QT syndrome | “Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | KCNQ1 | “Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.” | 0.98 | hgnc_dict_v1 |
| gene | KCNH2 | “Mutations in three genes (KCNQ1, KCNH2, and SCN5A) account for the majority of the cases.” | 0.98 | hgnc_dict_v1 |