B3GAT1, beta-1,3-glucuronyltransferase 1, 27087

N. diseases: 199; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.040 Biomarker group BEFREE Anti-HNK1 positive patients had the classical predominantly distal acquired demyelinating symmetric (DADS) neuropathy with a benign course, while anti-PNM positive but anti-HNK1 negative patients had predominantly axonal neuropathy with a high frequency of anti-sulfatide reactivity and the worst long-term prognosis. 31654362 2020
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.040 Biomarker group BEFREE In anti-MAG neuropathies, anti-HNK1 titre was correlated with sensory deficiency evaluated with the INCAT sensory sum score (r = 0.4, p = 0.01) and with disability evaluated with the Rasch-built Overall Disability Scale (r = [Formula: see text] 0.4, p = 0.01) and Overall Neuropathy Limitation Scale (r = 0.4, p = 0.02). 31089861 2019
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.040 GeneticVariation group BEFREE It has been suggested, however, that serum autoantibodies in IgM anti-myelin-associated glycoprotein (MAG) antibody-associated neuropathy patients show heterogeneous reactivity to the HNK-1 epitope. 28709864 2017
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.040 Biomarker group BEFREE A correctly glycosylated myelin-associated glycoprotein (MAG) must express the carbohydrate epitope HNK-1, which is the target antigen for IgM antibodies in some patients with neuropathy. 9792616 1998