UBAC2, UBA domain containing 2, 337867

N. diseases: 97; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.340 GeneticVariation disease BEFREE Our findings suggest that enhanced UBAC2 expression associated with the homozygous risk allele (TT) of rs9517723 could induce overactivation of ubiquitination-related pathway, resulting in the development of ocular and CNS lesions in BD. 28389674 2017
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.340 AlteredExpression disease BEFREE The mRNA expression of UBAC2 transcript variant 1 was significantly decreased in PBMCs and skin of BD patients as compared with controls (P = 0.025; P = 0.047, respectively). 22455605 2012
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.340 SusceptibilityMutation disease ORPHANET The mRNA expression of UBAC2 transcript variant 1 was significantly decreased in PBMCs and skin of BD patients as compared with controls (P = 0.025; P = 0.047, respectively). 22455605 2012
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.340 GeneticVariation disease BEFREE Indeed, we demonstrated that rs7999348 tags a functional variant associated with increased messenger RNA expression of a UBAC2 transcript variant in peripheral blood mononuclear cells of individuals homozygous for the Behçet's disease-associated "G" allele. 21918955 2011
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.340 SusceptibilityMutation disease ORPHANET A putative functional variant within the UBAC2 gene is associated with increased risk of Behçet's disease. 21918955 2011
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.340 GeneticVariation disease BEFREE We identified genetic associations between Behçet's disease and single-nucleotide polymorphisms (SNPs) in KIAA1529, CPVL, LOC100129342, UBASH3B, and UBAC2 (odds ratio = 2.04, 2.26, 1.84, 1.71, and 1.61, respectively; P value = 4.2 x 10-5, 1.0 x 10-4, 3.0 x 10-4, 1.5 x 10-3, and 5.8 x 10-3, respectively). 19442274 2009