Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 AlteredExpression BEFREE Biochemical investigations including GAA, creatine and GAMT enzyme activity measurements are essential to confirm the diagnosis of GAMT deficiency. 26319512

2016
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 GeneticVariation BEFREE Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene. 26003046

2015
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 AlteredExpression BEFREE The effect of these variants on GAMT enzyme activity was overexpressed using primary GAMT-D fibroblasts: 17 variants retained no significant activity and are therefore considered pathogenic. 24415674

2014
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 GeneticVariation BEFREE Here, we prove that mutations in the GAMT gene are responsible for GAMT deficiency, since overexpression of the GAMT open reading frame restores GAMT activity in GAMT-deficient fibroblasts. 16899382

2006