TGM6, transglutaminase 6, 343641

N. diseases: 54; N. variants: 7
Disease: Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.040 Biomarker phenotype BEFREE Transglutaminase 6 antibodies (anti-TG6) have been considered a biomarker for gluten-related ataxia and neuropathy, but their prevalence in epilepsies with cerebral calcifications is unknown. 31698178 2019
CUI: C0004134
Disease: Ataxia
Ataxia 		0.040 Biomarker phenotype BEFREE Many patients with gluten ataxia produce antibodies toward the newly identified neuronal transglutaminase 6 (TG6). 25867286 2015
CUI: C0004134
Disease: Ataxia
Ataxia 		0.040 Biomarker phenotype BEFREE Exome and targeted sequencing has recently identified four new genes causing ataxia: TGM6, ANO10, SYT14, and rundataxin. 22527681 2012
CUI: C0004134
Disease: Ataxia
Ataxia 		0.040 Biomarker phenotype BEFREE Whereas the development of anti-transglutaminase 2 IgA is linked with gastrointestinal disease, an anti-transglutaminase 6 IgG and IgA response is prevalent in gluten ataxia, independent of intestinal involvement. 18825674 2008