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: C1848207
Disease: Poor speech
Poor speech 		0.100 Biomarker phenotype HPO
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.100 Biomarker phenotype HPO
CUI: C2748610
Disease: Progressive extrapyramidal movement disorder
Progressive extrapyramidal movement disorder 		0.100 Biomarker phenotype HPO
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		0.100 Biomarker disease HPO
CUI: C4476570
Disease: Reduced brain creatine level by MRS
Reduced brain creatine level by MRS 		0.100 Biomarker phenotype HPO
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker disease CLINGEN THE SYNTHESIS OF GLYCOCYAMINE IN RAT KIDNEY AND A MECHANISM OF CREATINE SYNTHESIS IN VIVO. 17789505 1940
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker disease CLINGEN Enzymatic mechanism of creatine synthesis. 13192118 1954
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker disease CLINGEN A Na(+)-dependent creatine transporter in rabbit brain, muscle, heart, and kidney. cDNA cloning and functional expression. 8473283 1993
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker disease CLINGEN Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. 8651275 1996
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 CausalMutation disease CLINVAR Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. 8651275 1996
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 GeneticVariation disease UNIPROT Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. 8651275 1996
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker disease GENOMICS_ENGLAND Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. 8651275 1996
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker group GENOMICS_ENGLAND Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. 8651275 1996
CUI: C0010678
Disease: Cysticercosis
Cysticercosis 		0.010 GeneticVariation disease BEFREE Preliminary immunogenicity studies employing the radiolabeled R-Tso18 protein in immune co-precipitation assays indicated sero-positivity for T. saginata-infected calf sera (6/13), T. solium cysticercosis human (7/22) and pig (2/2) sera and E. multilocularis (6/10)- and E. granulosus (1/12)-infected human sera, whereas other helminth-infection sera were negative. 9610644 1998
CUI: C0018889
Disease: Helminthiasis
Helminthiasis 		0.010 Biomarker disease BEFREE Preliminary immunogenicity studies employing the radiolabeled R-Tso18 protein in immune co-precipitation assays indicated sero-positivity for T. saginata-infected calf sera (6/13), T. solium cysticercosis human (7/22) and pig (2/2) sera and E. multilocularis (6/10)- and E. granulosus (1/12)-infected human sera, whereas other helminth-infection sera were negative. 9610644 1998
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 CausalMutation disease CLINVAR Two new severe mutations causing guanidinoacetate methyltransferase deficiency. 11136556 2000
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker disease CLINGEN Two new severe mutations causing guanidinoacetate methyltransferase deficiency. 11136556 2000
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 GeneticVariation disease UNIPROT Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. 12468279 2002
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 CausalMutation disease CLINVAR Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency. 11978605 2002
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker disease CLINGEN Lack of creatine in muscle and brain in an adult with GAMT deficiency. 12557293 2003
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 CausalMutation disease CLINVAR Lack of creatine in muscle and brain in an adult with GAMT deficiency. 12557293 2003
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker disease CLINGEN Creatine deficiency syndromes. 12701824 2003
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 GeneticVariation disease UNIPROT Characterization of seven novel mutations in seven patients with GAMT deficiency. 15108290 2004
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 GeneticVariation disease CLINVAR Characterization of seven novel mutations in seven patients with GAMT deficiency. 15108290 2004
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		0.940 Biomarker disease MGD Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency. 15028668 2004