# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
MTC146 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
61 |
44.248 |
|
2 |
|
|
MTC029 |
Mitochondrial Complex V Deficiency, Nuclear Type 1 |
41 |
39.810 |
|
3 |
|
|
LGH007 |
Leigh Syndrome |
69 |
33.437 |
|
4 |
|
P
|
LVR013 |
Liver Disease |
71 |
14.865 |
|
5 |
|
|
MTC114 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes |
63 |
12.879 |
|
6 |
|
P
|
LKD001 |
Leukodystrophy |
59 |
11.352 |
|
7 |
|
P
|
MYP004 |
Myopathy |
67 |
11.352 |
|
8 |
|
|
LGH012 |
Leigh Syndrome with Leukodystrophy |
30 |
8.781 |
|
9 |
|
|
MTC004 |
Mitochondrial Encephalomyopathy |
42 |
8.072 |
|
10 |
|
|
LBR038 |
Leber Hereditary Optic Neuropathy, Modifier of |
64 |
7.918 |
|
11 |
|
c
|
SPS102 |
Spastic Paraplegia 25, Autosomal Recessive |
31 |
7.918 |
|
12 |
|
c
|
LKD009 |
Leukodystrophy, Hypomyelinating, 5 |
50 |
7.918 |
|
13 |
|
|
MTC005 |
Mitochondrial Metabolism Disease |
39 |
7.918 |
|
14 |
|
P
|
SCH015 |
Schizophrenia |
76 |
1.306 |
|
15 |
|
|
NNL005 |
Non-Alcoholic Fatty Liver Disease |
58 |
1.208 |
|
16 |
|
|
PRG076 |
Progressive Cavitating Leukoencephalopathy |
11 |
1.208 |
|
17 |
|
|
PSY004 |
Psychotic Disorder |
69 |
1.180 |
|
18 |
|
c
|
FTT011 |
Fatty Liver Disease 1 |
50 |
1.150 |
|
19 |
|
|
MTC015 |
Mitochondrial Dna-Associated Leigh Syndrome and Narp |
20 |
1.150 |
|
20 |
|
P
|
MYC007 |
Myocardial Infarction |
68 |
1.118 |
|
21 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
96 |
1.102 |
|
22 |
|
|
IRN008 |
Iron Overload in Africa |
54 |
1.102 |
|
23 |
|
c
|
TYR012 |
Tyrosinemia, Type I |
67 |
1.102 |
|
24 |
|
c
|
HPT073 |
Hepatitis C Virus |
70 |
1.102 |
|
25 |
|
c
|
CHL136 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
59 |
1.102 |
|