TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.040 Biomarker disease BEFREE Magnitude of gluten-specific T-cell responses in coeliac disease (CD) might be dependent on HLA-DQ2 gene dose. 30779476 2019
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.040 Biomarker disease BEFREE Experimental data suggest that the HLA-DQ2 gene dose has a strong quantitative effect on clinical outcomes and severity of celiac disease (CD). 30763397 2019
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.040 GeneticVariation disease BEFREE We present a fluorescent genosensor, exploiting molecular-beacon-functionalized gold nanoparticles, for the identification of human leukocyte antigen (HLA) DQ2 gene, a key genetic factor in coeliac disease. 22086396 2012
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.040 Biomarker disease BEFREE The HLA-DQ2 gene dose effect in celiac disease is directly related to the magnitude and breadth of gluten-specific T cell responses. 14530392 2003