Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 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 GeneticVariation disease BEFREE To quantify T CD4, T CD8 and B lymphocytes in subgroups of patients with narcolepsy and the presence or absence of the HLA-DQB1*0602 allele between groups. 17665008 2007
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 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 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 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 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 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 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 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 LHGDN [Diagnosis of childhood narcolepsy and significance of HLA in its diagnosis]. 15157381 2004
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 The importance of HLA DQB1*0602 typing in Slovene patients with narcolepsy. 12097985 2002
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 GeneticVariation disease BEFREE These results could be explained by increased disease heterogeneity in the noncataplexy group or by a direct effect of the HLA DQB1*0602 genotype on the clinical expression of narcolepsy. 9456467 1997
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