| # |
|
Family |
MCID |
Name |
MIFTS |
Score |
| 1 |
|
|
LGH007 |
Leigh Syndrome |
69 |
42.576 |
|
| 2 |
|
P
|
CLR023 |
Colorectal Cancer |
100 |
23.900 |
|
|
| 3 |
|
|
LBR038 |
Leber Hereditary Optic Neuropathy, Modifier of |
64 |
20.266 |
|
|
| 4 |
|
|
MTC205 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
58 |
19.046 |
|
|
| 5 |
|
P
|
TTR001 |
Tetralogy of Fallot |
70 |
18.048 |
|
|
| 6 |
|
|
MTC114 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes |
63 |
16.673 |
|
|
| 7 |
|
P
|
DFN349 |
Deafness, Nonsyndromic Sensorineural, Mitochondrial |
32 |
13.040 |
|
|
| 8 |
|
P
|
NRP001 |
Neuropathy |
58 |
11.104 |
|
|
| 9 |
|
P
|
MYG005 |
Myoglobinuria |
40 |
9.954 |
|
|
| 10 |
|
P
|
SDR003 |
Sideroblastic Anemia |
52 |
9.954 |
|
|
| 11 |
|
P
|
MYP004 |
Myopathy |
67 |
9.619 |
|
|
| 12 |
|
P
|
SNS001 |
Sensorineural Hearing Loss |
59 |
9.474 |
|
|
| 13 |
|
|
ECH003 |
Echinococcosis |
54 |
9.226 |
|
|
| 14 |
|
|
MTC116 |
Mitochondrial Myopathy, Infantile, Transient |
44 |
8.993 |
|
|
| 15 |
|
P
|
3MT016 |
3-Methylglutaconic Aciduria, Type Iii |
66 |
8.899 |
|
|
| 16 |
|
c
|
FML053 |
Familial Colorectal Cancer |
45 |
8.865 |
|
|
| 17 |
|
P
|
ATS406 |
Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 |
43 |
8.619 |
|
|
| 18 |
|
|
MLR004 |
Malaria |
77 |
8.407 |
|
|
| 19 |
|
P
|
MTC133 |
Mitochondrial Myopathy |
51 |
8.325 |
|
|
| 20 |
|
c
|
MYG007 |
Myoglobinuria, Recurrent |
31 |
8.300 |
|
|
| 21 |
|
P
|
HNT016 |
Huntington Disease |
72 |
8.128 |
|
|
| 22 |
|
c
|
HYP595 |
Hypertension, Essential |
86 |
8.128 |
|
|
| 23 |
|
|
KRN002 |
Kearns-Sayre Syndrome |
63 |
8.128 |
|
|
| 24 |
|
|
EPD015 |
Epidemic Typhus |
49 |
8.128 |
|
|
| 25 |
|
P
|
MTR014 |
Motor Neuron Disease |
64 |
8.128 |
|
|
