| # |
|
Family |
MCID |
Name |
MIFTS |
Score |
| 1 |
|
c
|
CHR646 |
Charcot-Marie-Tooth Disease, Axonal, Type 2b |
51 |
52.782 |
|
| 2 |
|
P
|
CHR071 |
Charcot-Marie-Tooth Disease |
64 |
21.005 |
|
|
| 3 |
|
P
|
CHR654 |
Charcot-Marie-Tooth Disease, Axonal, Type 2e |
67 |
16.979 |
|
|
| 4 |
|
P
|
NRP001 |
Neuropathy |
58 |
14.030 |
|
|
| 5 |
|
|
TTH006 |
Tooth Disease |
47 |
12.043 |
|
|
| 6 |
|
P
|
OST001 |
Osteopetrosis |
63 |
11.641 |
|
|
| 7 |
|
|
QFV001 |
Q Fever |
61 |
9.844 |
|
|
| 8 |
|
|
CHR629 |
Charcot-Marie-Tooth Disease and Deafness |
59 |
9.657 |
|
|
| 9 |
|
P
|
PRK057 |
Parkinson Disease, Late-Onset |
81 |
9.657 |
|
|
| 10 |
|
|
RBS001 |
Rabies |
58 |
9.657 |
|
|
| 11 |
|
P
|
NRP063 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
66 |
9.657 |
|
|
| 12 |
|
|
CHR081 |
Choroideremia |
59 |
9.505 |
|
|
| 13 |
|
c
|
PNT034 |
Pontocerebellar Hypoplasia, Type 2e |
53 |
9.505 |
|
|
| 14 |
|
P
|
NRN021 |
Neuronal Ceroid Lipofuscinosis |
61 |
7.855 |
|
|
| 15 |
|
P
|
PRP019 |
Peripheral Nervous System Disease |
63 |
7.288 |
|
|
| 16 |
|
|
VCS001 |
Vici Syndrome |
55 |
6.984 |
|
|
| 17 |
|
c
|
NMN015 |
Niemann-Pick Disease, Type C1 |
71 |
6.873 |
|
|
| 18 |
|
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
87 |
6.721 |
|
|
| 19 |
|
|
HYP186 |
Hypertrophic Neuropathy of Dejerine-Sottas |
54 |
6.721 |
|
|
| 20 |
|
P
|
CRP023 |
Carpenter Syndrome 1 |
57 |
6.721 |
|
|
| 21 |
|
c
|
MCL013 |
Mucolipidosis Iv |
66 |
6.721 |
|
|
| 22 |
|
|
CSY001 |
C Syndrome |
57 |
6.721 |
|
|
| 23 |
|
c
|
FRN059 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 |
51 |
6.721 |
|
|
| 24 |
|
|
LGN002 |
Legionellosis |
49 |
6.721 |
|
|
| 25 |
|
P
|
NMN002 |
Niemann-Pick Disease |
60 |
6.721 |
|
|
