TPK1, thiamin pyrophosphokinase 1, 27010

N. diseases: 21; N. variants: 9
Disease: Dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker phenotype GENOMICS_ENGLAND TPK1 mutation induced childhood onset idiopathic generalized dystonia: Report of a rare mutation and effect of deep brain stimulation. 28431625 2017
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker phenotype HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker phenotype GENOMICS_ENGLAND