Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.050 GeneticVariation disease BEFREE The patient is also homozygous for the two minor variants rs4657139 and rs16847548 on the NOS1AP gene, associated with greater risk for cardiac arrest and sudden death in LQTS mutation carriers of the founder population. hiPSCs, obtained using four retroviruses encoding the reprogramming factors OCT4, SOX2, cMYC and KLF4, display pluripotent stem cell characteristics, and can be differentiated into spontaneously beating cardiomyocytes (hiPSC-CMs). 30878014 2019
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.050 GeneticVariation disease BEFREE Here we assess three non-coding NOS1AP sequence variants, chosen for their previously reported strong association with QTc in normal and LQTS populations, for association with QTc in two Swedish LQT1 founder populations. 28720088 2017
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.050 GeneticVariation disease BEFREE NOS1AP gene variants play a role in modulating QT intervals in healthy subjects and severity of presentation in LQTS. 22682551 2012
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.050 Biomarker disease BEFREE We quantified the association between variant alleles, QTc, and outcomes to assess whether NOS1AP is a useful risk stratifier in LQTS. 20538168 2010
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.050 Biomarker disease BEFREE NOS1AP is a genetic modifier of the long-QT syndrome. 19822806 2009