RBM45, RNA binding motif protein 45, 129831

N. diseases: 557; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 GeneticVariation disease BEFREE Thirty-four of the 54 children were HLA-typed, and they were all positive for narcolepsy risk allele DQB1*0602/DRB1*15. 22470463 2012
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 Biomarker disease BEFREE These results illustrate the extraordinary conservation of HLA class II effects in narcolepsy across populations and show that DRB1*15:01 has no effect on narcolepsy susceptibility in the absence of DQB1*06:02. 22862152 2012
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 GeneticVariation disease BEFREE To further define the genetic basis of narcolepsy risk, we performed a genome-wide association study (GWAS) in 562 European individuals with narcolepsy (cases) and 702 ethnically matched controls, with independent replication in 370 cases and 495 controls, all heterozygous for DRB1*1501-DQB1*0602. 20711174 2010
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 GeneticVariation disease BEFREE The susceptibility alleles found in Mexicans with narcolepsy are also present in Japanese and Caucasians; DRB1*04 linked protection has also been shown in Koreans. 18706091 2008
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 Biomarker disease BEFREE Complementary approaches were used to investigate residual predisposing effects of microsatellite alleles comprising the extended DRB1*15 haplotype taking into account the strong predisposing effect of DRB1*15: (1) Disease association of the extended DRB1*15 haplotype was compared for MS and narcolepsy families--predisposing effects were observed for extended class I microsatellite marker alleles in MS families, but not narcolepsy families; (2) disease association of the extended DRB1*15 haplotype was investigated after conditioning MS and control haplotypes on the absence of DRB1*15--a significant predisposing effect was observed for a 627-kb haplotype (D6S258 allele 8-MOGCA allele 4; MOG, myelin oligodendrocyte glycoprotein) spanning the extended class I region. 17256150 2007
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 GeneticVariation disease BEFREE Several DRB1 (*0101, *0405, *0901) and DQB1 alleles (*0303, *0401, *0501, *0601, *0604) were found to have weak protective effects against narcolepsy. 17002906 2006
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 GeneticVariation disease BEFREE The T-allele of the C-857T polymorphism was strongly associated with narcolepsy in the subgroup of DRB1*15/16 (HLA-DR2 type) negative patients, but not in DRB1*15/16 positive patients. 12823767 2003
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 GeneticVariation disease BEFREE In previous studies, we suggested that the tumor necrosis factor (TNF-alpha and its receptor 2 (TNFR2) genes could be associated with the susceptibility to human narcolepsy, and that haplotype carrying DRB1*1502 had a negative association with the disorder. 11285131 2001
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 Biomarker disease BEFREE Although narcolepsy is highly associated with human leukocyte antigen (HLA) DQ6/DQB1*0602 and/or DR2/DRB1*1501, most individuals with the HLA haplotype are free of narcolepsy. 10777671 2000
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 GeneticVariation disease BEFREE A genetic factor strongly associated with the disorder has been found in the human leukocyte antigen (HLA) class II region: the haplotype, DRB1*1501-DQB1*0602, predisposes to narcolepsy. 10488740 1999
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 Biomarker disease BEFREE DQB1*0602 was found to be a more sensitive marker for narcolepsy than DRB1*15 across all ethnic groups. 9456467 1997
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 GeneticVariation disease BEFREE The haplotype DRB1*1501-DRB5*0101-DQA1*0102-DQB1*0602 was found to be significantly associated with the disease, while the haplotype DRB1*0701-DRB4*01-DQA1*0201-DQB1*02 might confer a slight protective effect against narcolepsy. 9534039 1997
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 Biomarker disease BEFREE In Black Americans, however, DRB1*1501 (DR2) was a poor marker for narcolepsy. 7701202 1994