Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C3554182
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 		A 0.800 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C3554182
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 		A 0.800 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907

2014
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C3554182
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 		A 0.800 CausalMutation CLINVAR Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase. 25288793

2014
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C3554182
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 		A 0.800 CausalMutation CLINVAR Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT. 23499752

2013
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C3554182
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 		A 0.800 CausalMutation CLINVAR A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. 24123792

2013
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C3554182
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 		A 0.800 CausalMutation CLINVAR Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348

2012
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C3554182
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 		A 0.800 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147

2011
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C4748826
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 		A 0.800 CausalMutation CLINVAR

dbSNP: rs201431517
rs201431517
MTFMT
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		A 0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907

2014
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C4013993
Disease: Bilateral striatal necrosis
Bilateral striatal necrosis 		A 0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907

2014
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		A 0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907

2014
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		A 0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907

2014
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		A 0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907

2014
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		A 0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907

2014
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C4318382
Disease: Cardiac Conduction Defects
Cardiac Conduction Defects 		A 0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907

2014
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		A 0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907

2014
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907

2014
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C0002418
Disease: Amblyopia
Amblyopia 		A 0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907

2014
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C4013993
Disease: Bilateral striatal necrosis
Bilateral striatal necrosis 		A 0.700 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147

2011
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		A 0.700 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147

2011
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C4318382
Disease: Cardiac Conduction Defects
Cardiac Conduction Defects 		A 0.700 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147

2011
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C0002418
Disease: Amblyopia
Amblyopia 		A 0.700 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147

2011
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147

2011
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		A 0.700 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147

2011
dbSNP: rs201431517
rs201431517
MTFMT
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		A 0.700 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147

2011