GAMT, guanidinoacetate N-methyltransferase, 2593

N. diseases: 62; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker disease CLINGEN Biochemical and behavioral phenotype of AGAT and GAMT deficient mice following long-term Creatine monohydrate supplementation. 28808834 2017
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 AlteredExpression disease BEFREE Biochemical investigations including GAA, creatine and GAMT enzyme activity measurements are essential to confirm the diagnosis of GAMT deficiency. 26319512 2016
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 GeneticVariation disease BEFREE Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene. 26003046 2015
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 CausalMutation disease CLINVAR Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. 24268530 2014
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker disease GENOMICS_ENGLAND Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. 24268530 2014
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 GeneticVariation disease UNIPROT 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
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker disease CLINGEN 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
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 AlteredExpression disease 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
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 CausalMutation disease CLINVAR 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
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker disease GENOMICS_ENGLAND Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. 24268530 2014
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 CausalMutation disease CLINVAR Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 23660394 2013
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 GeneticVariation disease UNIPROT Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 23660394 2013
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 CausalMutation disease CLINVAR Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency. 24071436 2013
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 CausalMutation disease CLINVAR Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency. 23583224 2013
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 CausalMutation disease CLINVAR Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency. 19027335 2009
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 GeneticVariation disease UNIPROT Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language. 19388150 2009
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 CausalMutation disease CLINVAR A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal. 17336114 2007
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker disease CLINGEN Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology. 17466557 2007
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 CausalMutation disease CLINVAR Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy. 17171576 2007
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 GeneticVariation disease UNIPROT Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology. 17466557 2007
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 GeneticVariation disease CLINVAR Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy. 17171576 2007
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 CausalMutation disease CLINVAR GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. 16855203 2006
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker disease CLINGEN 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
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 GeneticVariation disease UNIPROT GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. 16855203 2006
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 GeneticVariation disease 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