| # |
|
Family |
MCID |
Name |
MIFTS |
Score |
| 1 |
|
|
MTC223 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
20 |
29.973 |
|
| 2 |
|
|
MTC205 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
58 |
19.928 |
|
|
| 3 |
|
|
HYP068 |
Hyperostosis |
47 |
11.727 |
|
|
| 4 |
|
|
EXC002 |
Exocrine Pancreatic Insufficiency |
43 |
11.727 |
|
|
| 5 |
|
P
|
MCR010 |
Microcephaly |
59 |
11.569 |
|
|
| 6 |
|
|
LGH007 |
Leigh Syndrome |
69 |
9.299 |
|
|
| 7 |
|
|
ISL083 |
Isolated Cytochrome C Oxidase Deficiency |
28 |
8.781 |
|
|
| 8 |
|
|
MTC114 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes |
63 |
8.181 |
|
|
| 9 |
|
c
|
MCR238 |
Microcephaly 7, Primary, Autosomal Recessive |
38 |
8.181 |
|
|
| 10 |
|
P
|
MTC133 |
Mitochondrial Myopathy |
51 |
8.181 |
|
|
| 11 |
|
c
|
FNC027 |
Fanconi Anemia, Complementation Group a |
80 |
1.628 |
|
|
| 12 |
|
P
|
MTC235 |
Mitochondrial Disease |
51 |
1.182 |
|
|
| 13 |
|
|
DFC004 |
Deficiency Anemia |
74 |
1.152 |
|
|
| 14 |
|
|
CRB004 |
Cerebral Artery Occlusion |
47 |
1.152 |
|
|
| 15 |
|
P
|
MYP004 |
Myopathy |
67 |
1.152 |
|
|
| 16 |
|
|
VSL002 |
Visual Epilepsy |
47 |
1.118 |
|
|
| 17 |
|
|
HYP265 |
Hypotonia |
46 |
1.118 |
|
|
| 18 |
|
|
ISC004 |
Ischemia |
60 |
1.081 |
|
|
| 19 |
|
|
RNL114 |
Renal Cell Carcinoma, Nonpapillary |
80 |
1.066 |
|
|
| 20 |
|
|
RNL065 |
Renal Cell Carcinoma, Papillary, 1 |
79 |
1.066 |
|
|
| 21 |
|
|
RNL119 |
Renal Cell Carcinoma, Xp11-Associated |
45 |
1.066 |
|
|
| 22 |
|
|
MTN001 |
Metanephric Adenoma |
41 |
1.066 |
|
|
| 23 |
|
|
LPT014 |
Leptin Deficiency or Dysfunction |
78 |
0.988 |
|
|
| 24 |
|
P
|
BRS047 |
Breast Cancer |
97 |
0.967 |
|
|
| 25 |
|
c
|
BDY010 |
Body Mass Index Quantitative Trait Locus 4 |
45 |
0.923 |
|
|
