Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 GeneticVariation disease BEFREE Narcolepsy (hypocretin deficiency), a sleep disorder characterized by sleepiness, cataplexy and rapid eye movement (REM) sleep abnormalities, is tightly associated with HLA-DRB1*1501 (M17378) and HLA-DQB1*0602 (M20432). 18820697 2008
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 GeneticVariation disease BEFREE This comprehensive genetic study sought to assess variations in CHKB and CPT1B susceptibility genes and HLA-DQB1*06:02 allele status in Turkish patients with narcolepsy and healthy persons. 24571861 2014
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 GeneticVariation disease BEFREE Prevalence of the HLA-DQB1*0602 allele in narcolepsy and idiopathic hypersomnia patients seen at a sleep disorders outpatient unit in São Paulo. 19506770 2009
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 GeneticVariation disease BEFREE Genetic studies confirmed the association with the allele HLA-DQB1*06:02, which is known to be related to sporadic narcolepsy. 26123389 2015
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 GeneticVariation disease BEFREE Passive smoking may be a risk factor for narcolepsy in subjects with HLA DQB1*0602. 19039244 2009
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 GeneticVariation disease BEFREE Carrying HLA-DQB1*06:02 was significantly associated with narcolepsy, odds ratio (OR) 39.4 [95% confidence interval (CI) 11.3, 137], p = 7.9 × 10<sup>-9</sup>. 30711515 2019
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 Biomarker disease GENOMICS_ENGLAND An association analysis of HLA-DQB1 with narcolepsy without cataplexy and idiopathic hypersomnia with/without long sleep time in a Japanese population. 27081540 2015
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 Biomarker disease BEFREE The association of narcolepsy with HLA-DQB1*0602 is established in Japanese, African-Americans, European, and North American Caucasians. 17207713 2007
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 Biomarker disease BEFREE HLA DQB1*06:02 negative narcolepsy with hypocretin/orexin deficiency. 25197808 2014
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 Biomarker disease BEFREE Biological markers of narcolepsy with cataplexy (classical narcolepsy) include sleep-onset REM periods (SOREM) on multiple sleep latency tests (MSLT), HLA-DQB1*0602 positivity, low levels of cerebrospinal fluid (CSF) hypocretin-1 (orexin A), increased body mass index (BMI), and high levels of CSF leptin. 14592354 2003
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 Biomarker disease BEFREE Correlation between HLA-DQB1*06:02 and narcolepsy with and without cataplexy: approving a safe and sensitive genetic test in four major ethnic groups. A systematic meta-analysis. 30321823 2018
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 GeneticVariation disease BEFREE The HLA-DQB1*06:02 allele alone was not sufficient to cause MS patients to develop narcolepsy. 28658402 2017
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 Biomarker disease BEFREE The tight co-segregation of HLA DQB1*0602 and narcolepsy spectrum disorders might suggest that HLA typing, especially DQB1*0602, at least partly confer the familial risk of narcolepsy. 17682655 2007
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 GeneticVariation disease BEFREE Our study aimed to determine the prevalence of HLA-DQB1*0602 allele in Iranian patients with narcolepsy and assess its predictive parameters for diagnosing narcolepsy. 29149785 2017
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 Biomarker disease BEFREE Polygenic risks in narcolepsy were estimated to explain 58.1% (P<sub>HLA-DQB1*06:02</sub>=2.30 × 10<sup>-48</sup>, P<sub>whole genome without HLA-DQB1*06:02</sub>=6.73 × 10<sup>-2</sup>) including HLA-DQB1*06:02 effects and 1.3% (P<sub>whole genome without HLA-DQB1*06:02</sub>=2.43 × 10<sup>-2</sup>) excluding HLA-DQB1*06:02 effects. 27305985 2016
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 AlteredExpression disease BEFREE The high frequency of HLA-DQB1*0602, low frequency of HLA-DQB1*0601 and low hypocretin levels in cataplexy-positive groups suggest that cataplexy-positive narcolepsy might be an etiologically different disease entity from the cataplexy-negative. 17297265 2007
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 Biomarker disease BEFREE We investigated the association between birth order and narcolepsy risk in a population-based case-control study in which all study subjects were HLA-DQB1*0602 positive. 22281000 2012
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 Biomarker disease LHGDN [Diagnosis of childhood narcolepsy and significance of HLA in its diagnosis]. 15157381 2004
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 GeneticVariation disease BEFREE For narcolepsy with HLA-DQB1 *0602, prevalence was 15.3 (95% CI: 12.8-17.9). 19013100 2009
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 SusceptibilityMutation disease ORPHANET Association of narcolepsy-cataplexy with HLA-DRB1 and DQB1 in Mexican patients: a relationship between HLA and gender is suggested. 18706091 2008