Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2628
Gene Symbol: GATM
GATM
CUI: C2675179
Disease: Arginine:Glycine Amidinotransferase Deficiency
Arginine:Glycine Amidinotransferase Deficiency 		0.760 Biomarker CLINGEN Biochemical and behavioral phenotype of AGAT and GAMT deficient mice following long-term Creatine monohydrate supplementation. 28808834

2017
Entrez Id: 2628
Gene Symbol: GATM
GATM
CUI: C2675179
Disease: Arginine:Glycine Amidinotransferase Deficiency
Arginine:Glycine Amidinotransferase Deficiency 		0.760 Biomarker CLINGEN To determine the carrier frequency of GATM deficiency, we performed functional characterization of rare missense variants in GATM reported as heterozygous in the Exome Variant Server database. 27233232

2016
Entrez Id: 2628
Gene Symbol: GATM
GATM
CUI: C2675179
Disease: Arginine:Glycine Amidinotransferase Deficiency
Arginine:Glycine Amidinotransferase Deficiency 		0.760 Biomarker CLINGEN Patients with unexplained IDD with and without myopathy should be assessed for AGAT deficiency by determination of urine/plasma GAA and cerebral creatine levels (via brain MRS), and by GATM gene sequencing. 26490222

2015
Entrez Id: 2628
Gene Symbol: GATM
GATM
CUI: C2675179
Disease: Arginine:Glycine Amidinotransferase Deficiency
Arginine:Glycine Amidinotransferase Deficiency 		0.760 Biomarker CLINGEN Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake. 23129796

2013
Entrez Id: 2628
Gene Symbol: GATM
GATM
CUI: C2675179
Disease: Arginine:Glycine Amidinotransferase Deficiency
Arginine:Glycine Amidinotransferase Deficiency 		0.760 Biomarker CLINGEN Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency. 23770102

2013
Entrez Id: 2628
Gene Symbol: GATM
GATM
CUI: C2675179
Disease: Arginine:Glycine Amidinotransferase Deficiency
Arginine:Glycine Amidinotransferase Deficiency 		0.760 Biomarker CLINGEN L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome. 23026748

2013
Entrez Id: 2628
Gene Symbol: GATM
GATM
CUI: C2675179
Disease: Arginine:Glycine Amidinotransferase Deficiency
Arginine:Glycine Amidinotransferase Deficiency 		0.760 Biomarker CLINGEN Arginine:glycineamidinotransferase (AGAT/GATM) deficiency has been described in 9 patients across 4 families. 22386973

2012
Entrez Id: 2628
Gene Symbol: GATM
GATM
CUI: C2675179
Disease: Arginine:Glycine Amidinotransferase Deficiency
Arginine:Glycine Amidinotransferase Deficiency 		0.760 Biomarker CLINGEN l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation. 20682460

2011
Entrez Id: 2628
Gene Symbol: GATM
GATM
CUI: C2675179
Disease: Arginine:Glycine Amidinotransferase Deficiency
Arginine:Glycine Amidinotransferase Deficiency 		0.760 Biomarker CLINGEN Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy. 20625172

2010
Entrez Id: 2628
Gene Symbol: GATM
GATM
CUI: C2675179
Disease: Arginine:Glycine Amidinotransferase Deficiency
Arginine:Glycine Amidinotransferase Deficiency 		0.760 Biomarker CLINGEN Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. 11555793

2001
Entrez Id: 2628
Gene Symbol: GATM
GATM
CUI: C2675179
Disease: Arginine:Glycine Amidinotransferase Deficiency
Arginine:Glycine Amidinotransferase Deficiency 		0.760 Biomarker CLINGEN A Na(+)-dependent creatine transporter in rabbit brain, muscle, heart, and kidney. cDNA cloning and functional expression. 8473283

1993
Entrez Id: 2628
Gene Symbol: GATM
GATM
CUI: C2675179
Disease: Arginine:Glycine Amidinotransferase Deficiency
Arginine:Glycine Amidinotransferase Deficiency 		0.760 Biomarker CLINGEN Enzymatic mechanism of creatine synthesis. 13192118

1954
Entrez Id: 2628
Gene Symbol: GATM
GATM
CUI: C2675179
Disease: Arginine:Glycine Amidinotransferase Deficiency
Arginine:Glycine Amidinotransferase Deficiency 		0.760 Biomarker CLINGEN THE SYNTHESIS OF GLYCOCYAMINE IN RAT KIDNEY AND A MECHANISM OF CREATINE SYNTHESIS IN VIVO. 17789505

1940