Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4543926
Disease: Narcolepsy type 1
Narcolepsy type 1
0.070 GeneticVariation disease BEFREE Narcolepsy type 1 (NT1) is caused by severe loss of the orexin neurons, and is highly associated with HLA DQB1*06:02. 31730293 2019
CUI: C4543926
Disease: Narcolepsy type 1
Narcolepsy type 1
0.070 Biomarker disease BEFREE The aims are to determine autoantibody levels against nine candidate autoantigens representing (1) proteins of the hypocretin transmitter system; Preprohypocretin (ppHypocretin), Hypocretin peptides 1 and 2 (HCRT1 and HCRT2) and Hypocretin receptor 2 (HCRTR2); (2) proteins previously associated with NT1; Tribbles homologue 2 (TRIB2), Pro-opiomelanocortin/alpha-melanocyte-stimulating-hormone (POMC/α-MSH) and Prostaglandin D2 Receptor DP1 (DP1); (3) proteins suggested as autoantigens for multiple sclerosis (another <i>HLA DQB1*06:02</i>-associated neurological disease); ATP-dependent Inwardly Rectifying Potassium Channel Kir4.1 (KIR4.1) and Calcium-activated chloride channel Anoctamin 2 (ANO2). 31328572 2019
CUI: C4543926
Disease: Narcolepsy type 1
Narcolepsy type 1
0.070 AlteredExpression disease BEFREE These findings suggest that a certain level of CD8<sup>+</sup> T-cell reactivity combined with HLA-DQB1*06:02 expression is important for NT1 development. 30783092 2019
CUI: C4543926
Disease: Narcolepsy type 1
Narcolepsy type 1
0.070 GeneticVariation disease BEFREE In the population-stratified analysis, HLA-DQB1*06:02 conferred an increased risk for NT1 (OR: 24.1, IC: 14.6-39.5, p < 0.001) and NT2 (OR: 3.9; IC: 2.2-6.8, p < 0.001). 30321823 2018
CUI: C4543926
Disease: Narcolepsy type 1
Narcolepsy type 1
0.070 Biomarker disease BEFREE We compared four diffusion tensor imaging-based microstructural indices (fractional anisotropy [FA], mean diffusivity [MD], radial diffusivity [RD], and axial diffusivity [AD]) in 57 patients with NT1 (39 females, mean age 21.8 years, 51/57 H1N1-vaccinated, 57/57 HLA-DQB1*06:02-positive, 54/54 hypocretin-deficient), 54 first-degree relatives (29 females, mean age 19.1 years, 37/54 H1N1-vaccinated, 32/54 HLA-DQB1*06:02-positive), and 55 healthy controls (38 females, mean age 22.3 years). 30016530 2018
CUI: C4543926
Disease: Narcolepsy type 1
Narcolepsy type 1
0.070 GeneticVariation disease BEFREE This specific loss of hypocretin and the strong association with the HLA-DQB1*06:02 allele led to the hypothesis that NT1 could be an immune-mediated pathology. 28107375 2017
CUI: C4543926
Disease: Narcolepsy type 1
Narcolepsy type 1
0.070 Biomarker disease BEFREE The aim of our study was to analyze the distribution of HLA-DQB1 in Czech patients with central hypersomnias and differences between diagnostic groups of narcolepsy type 1 (NT1), type 2 (NT2), idiopathic hypersomnia (IH) and no central hypersomnia subjects (no-CH). 28083611 2016