| # |
|
Family |
MCID |
Name |
MIFTS |
Score |
| 1 |
|
c
|
CNG195 |
Congenital Disorder of Glycosylation, Type Id |
41 |
39.331 |
|
| 2 |
|
c
|
USH040 |
Usher Syndrome, Type Id |
50 |
30.953 |
|
|
| 3 |
|
c
|
HYP819 |
Hyperlipoproteinemia, Type Id |
26 |
26.440 |
|
|
| 4 |
|
c
|
NRP039 |
Neuropathy, Hereditary Sensory, Type Id |
41 |
25.672 |
|
|
| 5 |
|
|
ECT108 |
Ectodermal Dysplasia and Immunodeficiency 1 |
39 |
24.737 |
|
|
| 6 |
|
c
|
HRD203 |
Hereditary Lymphedema Id |
13 |
23.467 |
|
|
| 7 |
|
c
|
TYP009 |
Type 2 Diabetes Mellitus |
91 |
20.342 |
|
|
| 8 |
|
|
MYS061 |
Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency |
46 |
20.160 |
|
|
| 9 |
|
c
|
HPT016 |
Hepatitis B |
63 |
19.670 |
|
|
| 10 |
|
c
|
MCP050 |
Mucopolysaccharidosis, Type Ii |
74 |
18.637 |
|
|
| 11 |
|
c
|
CHR653 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d |
41 |
18.404 |
|
|
| 12 |
|
P
|
HPT021 |
Hepatitis |
65 |
18.248 |
|
|
| 13 |
|
P
|
DBT009 |
Diabetes Mellitus |
67 |
16.678 |
|
|
| 14 |
|
P
|
AMY004 |
Amyloidosis |
66 |
16.393 |
|
|
| 15 |
|
P
|
DMN002 |
Dementia |
72 |
16.087 |
|
|
| 16 |
|
c
|
ALZ065 |
Alzheimer Disease, Familial, 1 |
87 |
14.771 |
|
|
| 17 |
|
|
GLC003 |
Glucose Intolerance |
53 |
14.600 |
|
|
| 18 |
|
c
|
GLY017 |
Glycogen Storage Disease Ic |
32 |
14.397 |
|
|
| 19 |
|
|
HYP643 |
Hypohidrotic Ectodermal Dysplasia with Immunodeficiency |
28 |
13.531 |
|
|
| 20 |
|
|
HYP060 |
Hyperinsulinism |
55 |
12.282 |
|
|
| 21 |
|
c
|
LYM148 |
Lymphatic Malformation 4 |
24 |
12.163 |
|
|
| 22 |
|
c
|
FML001 |
Familial Atrial Fibrillation |
67 |
11.885 |
|
|
| 23 |
|
c
|
CRB172 |
Cerebral Amyloid Angiopathy, Cst3-Related |
62 |
11.166 |
|
|
| 24 |
|
|
MLD018 |
Mild Cognitive Impairment |
50 |
9.451 |
|
|
| 25 |
|
|
ECT109 |
Ectodermal Dysplasia and Immunodeficiency 2 |
32 |
9.286 |
|
|
