rs201431517, MTFMT

N. diseases: 17
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mitochondrial Encephalomyopathies
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
0.700 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147 2011
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147 2011
Impaired exercise tolerance
CUI: C0424551
Disease: Impaired exercise tolerance
0.700 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147 2011
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
0.700 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147 2011
Amblyopia
CUI: C0002418
Disease: Amblyopia
0.700 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147 2011
Cytochrome C oxidase-negative muscle fibers
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
0.700 CausalMutation CLINVAR
Inability to walk by childhood/adolescence
CUI: C1859200
Disease: Inability to walk by childhood/adolescence
0.700 CausalMutation CLINVAR
Decreased activity of mitochondrial complex I
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
0.700 CausalMutation CLINVAR
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
0.700 CausalMutation CLINVAR
Poor speech
CUI: C1848207
Disease: Poor speech
0.700 CausalMutation CLINVAR