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 Narcolepsy symptom severity varies in a linear manner according to HLA-DQB1*0602 allele status. 20120618 2010
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 GeneticVariation disease BEFREE Narcolepsy is strongly associated with the HLA DQB1*0602 allele, and its symptoms stem from destruction of hypocretin-secreting neurons in the hypothalamus. 22213222 2012
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 GeneticVariation disease BEFREE HLA-DQB1*0602 and HLA DRB1 alleles are closely associated with narcolepsy. 18345414 2007
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 Biomarker disease BEFREE HLA DQB1*0602 is found in most individuals with hypocretin-deficient narcolepsy, a disorder characterized by a severe disruption of sleep and wake. 21292329 2011
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 HLA-DQB1*0602 forms a heterodimer with HLA-DQA1*0102 and may act as an antigen presenter to the T cell receptors, resulting in narcolepsy susceptibility. 28108192 2018
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 Biomarker disease BEFREE Although narcolepsy presents one of the tightest associations with a specific human leukocyte antigen (HLA) (DQB1*0602), there is strong evidence that non-HLA genes also confer susceptibility. 16754256 2006
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 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
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 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 GeneticVariation disease BEFREE Clock gene polymorphisms and narcolepsy in positive and negative HLA-DQB1*0602 patients. 16125818 2005
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 Biomarker disease GENOMICS_ENGLAND Familial Kleine-Levin Syndrome: A Specific Entity? 27253765 2016
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 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 GWASCAT Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic. 24204295 2013
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 Biomarker disease CTD_human Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. 20711174 2010
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 Biomarker disease BEFREE Human narcolepsy is tightly associated with HLA-DQB1*0602; canine narcolepsy is linked with a DNA segment with high homology with the human immunoglobulin mu-switch segment, and the onset of canine narcolepsy is associated with increased microglial expression of major histocompatibility complex DQ and DR molecules. 9363189 1996
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 GeneticVariation disease BEFREE In the present study, HLA-DQB1 in 664 Japanese narcoleptic subjects and 3131 Japanese control subjects was examined to determine whether HLA-DQB1 alleles located in trans of DQB1*06:02 are associated with narcolepsy. 25256355 2015
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 Biomarker disease BEFREE In this paper, we extend an analysis of the effect of HLA-DQB1 on narcolepsy risk published recently by Tafti et al. 25325462 2015
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 Biomarker disease BEFREE Increased prevalence of HLA-DQB1*0602, a marker of narcolepsy, was observed in males but not in females with > or =2 SOREMPs. 16597649 2006
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 GeneticVariation disease BEFREE Our data add further support to the strong association of the HLA-DQB1(∗)06:02 allele with narcolepsy, especially in narcolepsy+cataplexy patients. 24157097 2013
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