Source: CLINGEN

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 Biomarker CLINGEN Biochemical and behavioral phenotype of AGAT and GAMT deficient mice following long-term Creatine monohydrate supplementation. 28808834

2017
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker 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
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker CLINGEN Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology. 17466557

2007
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker 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
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker CLINGEN A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme. 16293431

2006
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker CLINGEN Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency. 15028668

2004
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker CLINGEN Characterization of seven novel mutations in seven patients with GAMT deficiency. 15108290

2004
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker CLINGEN Lack of creatine in muscle and brain in an adult with GAMT deficiency. 12557293

2003
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker CLINGEN Creatine deficiency syndromes. 12701824

2003
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker CLINGEN Two new severe mutations causing guanidinoacetate methyltransferase deficiency. 11136556

2000
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker CLINGEN Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. 8651275

1996
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker CLINGEN A Na(+)-dependent creatine transporter in rabbit brain, muscle, heart, and kidney. cDNA cloning and functional expression. 8473283

1993
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker CLINGEN Enzymatic mechanism of creatine synthesis. 13192118

1954
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker CLINGEN THE SYNTHESIS OF GLYCOCYAMINE IN RAT KIDNEY AND A MECHANISM OF CREATINE SYNTHESIS IN VIVO. 17789505

1940