Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007384
Disease: Cataplexy
Cataplexy
0.200 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: C0007384
Disease: Cataplexy
Cataplexy
0.200 Biomarker disease BEFREE The results showed that HLA DQB1*0602 was present in 4 (8%) individual of controls and 20 (45.5%) patients with higher prevalence in patients with cataplexy (78.9%) than patients without cataplexy (p<0.001). 29149785 2017
CUI: C0007384
Disease: Cataplexy
Cataplexy
0.200 Biomarker disease BEFREE Narcolepsy, a sleep disorder characterized by excessive daytime sleepiness, cataplexy and rapid eye movement sleep abnormalities, is tightly associated with human leukocyte antigen HLA-DQB1*06:02. 25256355 2015
CUI: C0007384
Disease: Cataplexy
Cataplexy
0.200 AlteredExpression disease BEFREE Narcolepsy in African Americans is characterized by earlier symptom onset, higher Epworth Sleepiness Scale score, higher HLA-DQB1*06:02 positivity, and low cerebrospinal fluid hypocretin-1 level in the absence of cataplexy. 26158891 2015
CUI: C0007384
Disease: Cataplexy
Cataplexy
0.200 Biomarker disease BEFREE The findings suggest that the presence of HLA-DQB1*06:02 may be a predictor of cataplexy in narcoleptic patients and could therefore be used as an additional diagnostic marker alongside hypocretin. 24571861 2014
CUI: C0007384
Disease: Cataplexy
Cataplexy
0.200 GeneticVariation 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: C0007384
Disease: Cataplexy
Cataplexy
0.200 Biomarker disease BEFREE Patients were included either when hypocretin deficiency was documented (CSF hypocretin-1≤110 pg/ml, n=91) or on the basis of the presence of clear cataplexy and HLA-DQB1∗0602 positivity (n=419). 22177342 2012
CUI: C0007384
Disease: Cataplexy
Cataplexy
0.200 GeneticVariation disease BEFREE The prevalence of the HLA-DQB1*0602 allele was increased in idiopathic hypersomnia and in narcoleptic patients with and without cataplexy when compared to healthy subjects (p = 0.04; p = 0.03 and p < 0.0001, respectively). 19506770 2009
CUI: C0007384
Disease: Cataplexy
Cataplexy
0.200 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: C0007384
Disease: Cataplexy
Cataplexy
0.200 GeneticVariation disease BEFREE The HLA-DQB1*0602 allele was identified in 10 (62.5%) of our 16 cataplexic subjects and in 2 (33.3%) of the 6 patients without cataplexy (p=0.24). 17665008 2007
CUI: C0007384
Disease: Cataplexy
Cataplexy
0.200 GeneticVariation disease BEFREE This study was designed to investigate the frequency of the HLA-DQB1 allele and cerebrospinal fluid (CSF) hypocretin levels in Korean narcoleptics with cataplexy as compared with those who do not have cataplexy. 17297265 2007
CUI: C0007384
Disease: Cataplexy
Cataplexy
0.200 Biomarker disease BEFREE We tested sera from strictly diagnosed HLA DQB1*0602-positive narcoleptic patients with cataplexy for evidence of autoantibodies against human preprohypocretin, hypocretin 1 and 2, N-terminal leader and C-terminal peptides of preprohypocretin using enzyme-linked immunosorbent assays (ELISA). 16171287 2005
CUI: C0007384
Disease: Cataplexy
Cataplexy
0.200 Biomarker disease BEFREE The objectives of the present study were to determine whether the month-of-birth pattern would (a) vary with the presence and severity of cataplexy and (b) differ for patients positive and negative for HLA-DQB1*0602. 15683136 2004
CUI: C0007384
Disease: Cataplexy
Cataplexy
0.200 Biomarker disease BEFREE Association with HLA DQB1*0602 was observed in 99.4% of narcoleptics with cataplexy and in 89.5% of those without cataplexy. 11833861 2002
CUI: C0007384
Disease: Cataplexy
Cataplexy
0.200 Biomarker disease BEFREE No antibody test yielded significantly positive results for the group as a whole or for subgroups of patients with cataplexy or positive HLA DQB1*0602 status. 12405606 2002
CUI: C0007384
Disease: Cataplexy
Cataplexy
0.200 Biomarker disease BEFREE Subjects with definite cataplexy as observed by an experienced clinician were more frequently HLA DQB1*0602-positive than those with doubtful cataplexy, and the manifestations of cataplexy were clinically more typical in DQB1*0602-positive patients. 9456467 1997
CUI: C0007384
Disease: Cataplexy
Cataplexy
0.200 Biomarker disease HPO