Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272137
Disease: Tn Syndrome
Tn Syndrome
0.020 AlteredExpression disease BEFREE Compromised C1GalT1 activity has been associated with immune-mediated diseases in humans, most notably Tn syndrome and IgA nephropathy. 17062753 2006
CUI: C0272137
Disease: Tn Syndrome
Tn Syndrome
0.020 GeneticVariation disease BEFREE A human hematopoietic disorder designated as Tn syndrome or permanent mixed-field polyagglutinability has been ascribed to a stem cell mutation leading to a specific deficiency of UDP-Gal:GalNAc alpha 1-O-Ser/Thr beta 1-3 galactosyltransferase (beta 3 Gal-T) activity in affected cells. 7683697 1993