Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C3554182
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 		disease 0.700 strong 1.000 7 11 2011 2016
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C4748826
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 		disease 0.600 strong 1.000 0 2 2012 2014
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.140 None 1.000 2 1 2011 2017
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C4318382
Disease: Cardiac Conduction Defects
Cardiac Conduction Defects 		phenotype 0.100 None 1.000 2 1 2011 2014
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C4013993
Disease: Bilateral striatal necrosis
Bilateral striatal necrosis 		phenotype 0.100 None 1.000 2 1 2011 2014
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		phenotype 0.100 None 1.000 2 1 2011 2014
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 1.000 2 1 2011 2014
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 1.000 2 1 2011 2014
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.100 None 1.000 2 1 2011 2014
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		phenotype 0.100 None 1.000 2 1 2011 2014
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 1.000 2 1 2011 2014
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		disease 0.100 None 1.000 2 1 2011 2014
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C1859200
Disease: Inability to walk by childhood/adolescence
Inability to walk by childhood/adolescence 		phenotype 0.100 None 0 1
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		phenotype 0.100 None 0 1
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		phenotype 0.100 None 0 1
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype 0.100 None 0 1