GAMT, guanidinoacetate N-methyltransferase, 2593

N. diseases: 62; N. variants: 18
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 Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. 24268530 2014
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker phenotype HPO