GGCT, gamma-glutamylcyclotransferase, 79017

N. diseases: 108; N. variants: 3
Disease: Neuronal intranuclear inclusion disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1863843
Disease: Neuronal intranuclear inclusion disease
Neuronal intranuclear inclusion disease 		0.020 Biomarker disease BEFREE Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders. 31178126 2019
CUI: C1863843
Disease: Neuronal intranuclear inclusion disease
Neuronal intranuclear inclusion disease 		0.020 GeneticVariation disease BEFREE Recently, the GGC repeated expansion in the 5'-untranslated region (5'UTR) of the <i>NOTCH2NLC</i> gene has been found in adult-onset NIID in Japanese individuals. 31413119 2019