rs201431517, MTFMT

N. diseases: 17
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Amblyopia
CUI: C0002418
Disease: Amblyopia
29 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 1.000 2 2011 2014
Attention deficit hyperactivity disorder
420 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 1.000 2 2011 2014
Bilateral striatal necrosis
CUI: C4013993
Disease: Bilateral striatal necrosis
1 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 1.000 2 2011 2014
Cardiac Conduction Defects
CUI: C4318382
Disease: Cardiac Conduction Defects
1 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 1.000 2 2011 2014
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 1.000 2 2011 2014
Impaired exercise tolerance
CUI: C0424551
Disease: Impaired exercise tolerance
7 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 1.000 2 2011 2014
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 1.000 2 2011 2014
Mitochondrial Encephalomyopathies
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
11 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 1.000 2 2011 2014
Neurodegeneration Due To Cerebral Folate Transport Deficiency
5 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 1.000 2 2011 2014
Short stature
CUI: C0349588
Disease: Short stature
292 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 1.000 2 2011 2014
Cytochrome C oxidase-negative muscle fibers
1 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 0
Decreased activity of mitochondrial complex I
3 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 0
Inability to walk by childhood/adolescence
2 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 0
Poor speech
CUI: C1848207
Disease: Poor speech
9 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 0
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
11 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.800 1.000 7 2011 2016
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27
2 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.800 1.000 1 2012 2012