rs201431517, MTFMT

N. diseases: 17
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907 2014
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907 2014
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907 2014
Poor speech
CUI: C1848207
Disease: Poor speech
0.700 CausalMutation CLINVAR
Mitochondrial Encephalomyopathies
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907 2014
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