GAMT, guanidinoacetate N-methyltransferase, 2593

N. diseases: 62; N. variants: 18
Disease: Guanidinoacetate methyltransferase deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs749390953
rs749390953
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		GC 0.700 CausalMutation CLINVAR Characterization of seven novel mutations in seven patients with GAMT deficiency. 15108290 2004
dbSNP: rs749390953
rs749390953
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		GC 0.700 CausalMutation CLINVAR Lack of creatine in muscle and brain in an adult with GAMT deficiency. 12557293 2003
dbSNP: rs749390953
rs749390953
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		GC 0.700 CausalMutation CLINVAR Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency. 11978605 2002
dbSNP: rs749390953
rs749390953
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0574080
Disease:
Guanidinoacetate methyltransferase deficiency 		GC 0.700 CausalMutation CLINVAR Two new severe mutations causing guanidinoacetate methyltransferase deficiency. 11136556 2000