| # |
|
Family |
MCID |
Name |
MIFTS |
Score |
| 1 |
|
c
|
HMC039 |
Hemochromatosis, Type 1 |
75 |
23.721 |
|
| 2 |
|
P
|
TMR018 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
61 |
19.562 |
|
|
| 3 |
|
c
|
HYP507 |
Hypotrichosis 1 |
36 |
16.593 |
|
|
| 4 |
|
P
|
HYP535 |
Hypogonadotropic Hypogonadism 7 with or Without Anosmia |
60 |
13.894 |
|
|
| 5 |
|
|
DYS164 |
Dyskeratosis Congenita, X-Linked |
59 |
13.322 |
|
|
| 6 |
|
|
CHR103 |
Charge Syndrome |
66 |
10.587 |
|
|
| 7 |
|
P
|
HFH002 |
Hfe Hemochromatosis |
25 |
9.993 |
|
|
| 8 |
|
|
HYP137 |
Hypotrichosis Simplex |
35 |
9.613 |
|
|
| 9 |
|
|
HRT018 |
Heart-Hand Syndrome, Slovenian Type |
25 |
9.285 |
|
|
| 10 |
|
c
|
HYP807 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
53 |
9.041 |
|
|
| 11 |
|
P
|
HYP730 |
Hypogonadotropic Hypogonadism |
60 |
5.294 |
|
|
| 12 |
|
|
HYP080 |
Hypogonadism |
51 |
4.993 |
|
|
| 13 |
|
P
|
LKM002 |
Leukemia |
65 |
4.149 |
|
|
| 14 |
|
c
|
BSL007 |
Basal Cell Carcinoma |
67 |
4.077 |
|
|
| 15 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
82 |
3.997 |
|
|
| 16 |
|
|
ACT217 |
Acute Myeloid Leukemia with Recurrent Genetic Anomaly |
42 |
3.967 |
|
|
| 17 |
|
c
|
NRD033 |
Neurodegeneration with Brain Iron Accumulation 2a |
69 |
3.821 |
|
|
| 18 |
|
c
|
BSL024 |
Basal Cell Carcinoma 1 |
59 |
3.791 |
|
|
| 19 |
|
P
|
MYL006 |
Myeloid Leukemia |
59 |
3.746 |
|
|
| 20 |
|
|
ENT001 |
Enterocele |
44 |
3.728 |
|
|
| 21 |
|
|
HRN026 |
Hernia, Hiatus |
49 |
3.726 |
|
|
| 22 |
|
P
|
PNC035 |
Pancreatic Cancer |
91 |
3.500 |
|
|
| 23 |
|
|
TTT001 |
Tatton-Brown-Rahman Syndrome |
73 |
3.407 |
|
|
| 24 |
|
P
|
MDL005 |
Medulloblastoma |
76 |
3.354 |
|
|
| 25 |
|
P
|
PLL001 |
Pallister-Hall Syndrome |
66 |
3.340 |
|
|
