GAMT, guanidinoacetate N-methyltransferase, 2593

N. diseases: 62; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894694
rs104894694
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene. 24415674 2014
dbSNP: rs121909272
rs121909272
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene. 24415674 2014
dbSNP: rs80338734
rs80338734
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene. 24415674 2014
dbSNP: rs886054247
rs886054247
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		T 0.800 CausalMutation CLINVAR Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene. 24415674 2014
dbSNP: rs886054247
rs886054247
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		T 0.800 CausalMutation CLINVAR Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. 24268530 2014
dbSNP: rs886054247
rs886054247
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene. 24415674 2014
dbSNP: rs104894694
rs104894694
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 23660394 2013
dbSNP: rs121909272
rs121909272
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 23660394 2013
dbSNP: rs80338734
rs80338734
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 23660394 2013
dbSNP: rs886054247
rs886054247
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 23660394 2013
dbSNP: rs886054247
rs886054247
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		T 0.800 CausalMutation CLINVAR Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 23660394 2013
dbSNP: rs104894694
rs104894694
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language. 19388150 2009
dbSNP: rs121909272
rs121909272
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language. 19388150 2009
dbSNP: rs80338734
rs80338734
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language. 19388150 2009
dbSNP: rs886054247
rs886054247
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language. 19388150 2009
dbSNP: rs104894694
rs104894694
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology. 17466557 2007
dbSNP: rs121909272
rs121909272
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology. 17466557 2007
dbSNP: rs80338734
rs80338734
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		G 0.800 CausalMutation CLINVAR A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal. 17336114 2007
dbSNP: rs80338734
rs80338734
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology. 17466557 2007
dbSNP: rs886054247
rs886054247
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology. 17466557 2007
dbSNP: rs104894694
rs104894694
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. 17101918 2006
dbSNP: rs104894694
rs104894694
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme. 16293431 2006
dbSNP: rs104894694
rs104894694
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. 16855203 2006
dbSNP: rs121909272
rs121909272
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. 16855203 2006
dbSNP: rs121909272
rs121909272
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		0.800 GeneticVariation UNIPROT A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme. 16293431 2006