Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 AlteredExpression disease BEFREE There was no difference in the MX2 expression level between the narcolepsy subjects and the HLA-DQB1 genotype-matched control subjects. 18517045 2008
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 The cataplectic narcolepsy differed from non-cataplectic narcolepsy by having more rapid eye movement (REM)-related clinical symptoms (more sleep paralysis and sleep-related hallucination) and sleep disturbances (shorter REM latency), as well as tighter association with HLA DQB1*0602. 18388176 2008
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 Biomarker disease BEFREE The association between narcolepsy and human leukocyte antigen HLA- DQB1*06:02 has been established elsewhere but remains to be investigated among Saudi Arabian patients with narcolepsy. 30187366 2019
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 The importance of HLA DQB1*0602 typing in Slovene patients with narcolepsy. 12097985 2002
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 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 Biomarker disease BEFREE We decided to test for the presence of several neuron-specific and organ-specific autoantibodies to see if they were present in HLA DQB1*0602-associated or cataplexy-associated narcolepsy or could serve as a serologic marker of the illness. 12405606 2002
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 Biomarker disease BEFREE These results indicate that HLA-DQB1*0602 homozygosity increases susceptibility to narcolepsy but does not appear to influence disease severity. 9459509 1998
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.800 Biomarker disease BEFREE The month-of-birth pattern in narcolepsy is moderated by cataplexy severity and may be independent of HLA-DQB1*0602. 15683136 2004
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 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 GENOMICS_ENGLAND Familial Kleine-Levin Syndrome: A Specific Entity? 27253765 2016
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 This diagnosis was defined as narcolepsy associated with cataplexy plus HLA-DQB1*06:02 positivity (no cerebrospinal fluid hypocretin-1 results available) or narcolepsy with documented low (≤ 110 pg/mL) cerebrospinal fluid hypocretin-1 level. 23649748 2013
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 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 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 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