# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
CHR646 |
Charcot-Marie-Tooth Disease, Axonal, Type 2b |
50 |
49.789 |
|
2 |
|
P
|
CHR071 |
Charcot-Marie-Tooth Disease |
64 |
23.641 |
|
3 |
|
P
|
NRP001 |
Neuropathy |
60 |
15.724 |
|
4 |
|
|
TTH006 |
Tooth Disease |
51 |
14.836 |
|
5 |
|
P
|
CHR654 |
Charcot-Marie-Tooth Disease, Axonal, Type 2e |
58 |
13.552 |
|
6 |
|
P
|
NRN021 |
Neuronal Ceroid Lipofuscinosis |
65 |
11.414 |
|
7 |
|
P
|
ALZ034 |
Alzheimer Disease |
87 |
10.915 |
|
8 |
|
|
QFV001 |
Q Fever |
62 |
10.915 |
|
9 |
|
|
VCS001 |
Vici Syndrome |
57 |
10.588 |
|
10 |
|
|
WLS001 |
Wilson Disease |
70 |
10.113 |
|
11 |
|
|
RBS001 |
Rabies |
58 |
10.113 |
|
12 |
|
c
|
NRP053 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iia |
67 |
9.465 |
|
13 |
|
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
88 |
9.465 |
|
14 |
|
P
|
PRK057 |
Parkinson Disease, Late-Onset |
80 |
9.465 |
|
15 |
|
|
CHR629 |
Charcot-Marie-Tooth Disease and Deafness |
50 |
9.465 |
|
16 |
|
P
|
NRP063 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
58 |
9.465 |
|
17 |
|
|
CHR081 |
Choroideremia |
58 |
9.465 |
|
18 |
|
|
SDM003 |
Sodium Channelopathy-Related Small Fiber Neuropathy |
27 |
9.052 |
|
19 |
|
P
|
PRP019 |
Peripheral Nervous System Disease |
58 |
8.940 |
|
20 |
|
c
|
CRP023 |
Carpenter Syndrome 1 |
59 |
6.692 |
|
21 |
|
P
|
RTN008 |
Retinitis Pigmentosa |
80 |
6.692 |
|
22 |
|
|
NRP049 |
Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux |
32 |
6.692 |
|
23 |
|
c
|
CHR353 |
Charcot-Marie-Tooth Disease, Axonal, Type 2l |
41 |
6.692 |
|
24 |
|
c
|
NRP039 |
Neuropathy, Hereditary Sensory, Type Id |
39 |
6.692 |
|
25 |
|
c
|
HRD201 |
Hereditary Sensory and Autonomic Neuropathy Type 1 |
43 |
6.692 |
|
26 |
|
P
|
WRB001 |
Warburg Micro Syndrome |
41 |
6.692 |
|
27 |
|
c
|
CHR647 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1c |
46 |
6.692 |
|
28 |
|
c
|
CHR521 |
Charcot-Marie-Tooth Disease, Type 4b1 |
47 |
6.692 |
|
29 |
|
c
|
CTR095 |
Cataract 8, Multiple Types |
35 |
6.692 |
|
30 |
|
P
|
HRD094 |
Hereditary Motor and Sensory Neuropathy, Type Iic |
48 |
6.692 |
|
31 |
|
c
|
CHR519 |
Charcot-Marie-Tooth Disease, Type 4b2 |
48 |
6.692 |
|
32 |
|
c
|
CHR420 |
Charcot-Marie-Tooth Disease, Type 4j |
48 |
6.692 |
|
33 |
|
c
|
CHR352 |
Charcot-Marie-Tooth Disease, Axonal, Type 2f |
45 |
6.692 |
|
34 |
|
|
LGN006 |
Legionnaire Disease |
52 |
6.692 |
|
35 |
|
|
CSY001 |
C Syndrome |
61 |
6.692 |
|
36 |
|
c
|
NMN015 |
Niemann-Pick Disease, Type C1 |
68 |
6.692 |
|
37 |
|
|
HYP186 |
Hypertrophic Neuropathy of Dejerine-Sottas |
51 |
6.692 |
|
38 |
|
c
|
HYP210 |
Hypomagnesemia 2, Renal |
40 |
6.692 |
|
39 |
|
c
|
LKD023 |
Leukodystrophy, Hypomyelinating, 12 |
38 |
6.692 |
|
40 |
|
c
|
CHR422 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
46 |
6.692 |
|
41 |
|
P
|
GRS003 |
Griscelli Syndrome |
53 |
6.692 |
|
42 |
|
|
DSS008 |
Disease of Mental Health |
74 |
6.692 |
|
43 |
|
P
|
HRM001 |
Hermansky-Pudlak Syndrome |
65 |
6.692 |
|
44 |
|
|
NRM005 |
Neuromuscular Disease |
63 |
6.692 |
|
45 |
|
P
|
NMN002 |
Niemann-Pick Disease |
60 |
6.692 |
|
46 |
|
P
|
BRS047 |
Breast Cancer |
98 |
3.528 |
|
47 |
|
|
CRT072 |
Creutzfeldt-Jakob Disease |
68 |
2.877 |
|
48 |
|
|
GLB002 |
Glioblastoma |
67 |
2.771 |
|
49 |
|
|
HYP266 |
Hypoxia |
57 |
2.771 |
|
50 |
|
P
|
AXN001 |
Axonal Neuropathy |
35 |
2.414 |
|
51 |
|
|
DYS015 |
Dysentery |
50 |
2.123 |
|
52 |
|
c
|
CRD186 |
Ceroid Lipofuscinosis, Neuronal, 3 |
63 |
1.949 |
|
53 |
|
P
|
MSC003 |
Muscular Atrophy |
52 |
1.949 |
|
54 |
|
P
|
RRH023 |
Rare Hereditary Hemochromatosis |
54 |
1.743 |
|
55 |
|
|
HMS001 |
Hemosiderosis |
48 |
1.743 |
|
56 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
1.468 |
|
57 |
|
|
TRM010 |
Traumatic Brain Injury |
51 |
1.451 |
|
58 |
|
|
BRN071 |
Brain Injury |
50 |
1.451 |
|
59 |
|
|
BRT002 |
Birt-Hogg-Dube Syndrome |
64 |
1.298 |
|
60 |
|
|
EPD052 |
Epidermolysis Bullosa Simplex Superficialis |
17 |
1.124 |
|
61 |
|
|
ABT001 |
Abetalipoproteinemia |
68 |
1.124 |
|
62 |
|
|
CHR607 |
Chorea, Childhood-Onset, with Psychomotor Retardation |
39 |
1.124 |
|
63 |
|
c
|
CHR608 |
Charcot-Marie-Tooth Disease, Axonal, Type 2p |
45 |
1.124 |
|
64 |
|
|
RPD005 |
Rapidly Involuting Congenital Hemangioma |
46 |
1.124 |
|
65 |
|
P
|
RRN010 |
Rare Neurodegenerative Disease |
14 |
1.124 |
|
66 |
|
|
CHR073 |
Choreatic Disease |
54 |
1.124 |
|
67 |
|
c
|
HPT016 |
Hepatitis B |
62 |
1.124 |
|
68 |
|
P
|
OST002 |
Osteoporosis |
76 |
0.917 |
|
69 |
|
P
|
CLR023 |
Colorectal Cancer |
100 |
0.917 |
|
70 |
|
c
|
BNM022 |
Bone Mineral Density Quantitative Trait Locus 8 |
45 |
0.917 |
|
71 |
|
P
|
BNM029 |
Bone Mineral Density Quantitative Trait Locus 15 |
48 |
0.917 |
|
72 |
|
|
TBL029 |
Tubulin, Beta |
28 |
0.917 |
|
73 |
|
P
|
PRS040 |
Prostate Cancer |
95 |
0.917 |
|
74 |
|
|
VCC001 |
Vaccinia |
47 |
0.917 |
|
75 |
|
P
|
HPT021 |
Hepatitis |
69 |
0.917 |
|
76 |
|
|
CNG034 |
Congestive Heart Failure |
69 |
0.917 |
|
77 |
|
|
PNC041 |
Pancreatic Ductal Adenocarcinoma |
51 |
0.917 |
|
78 |
|
|
STM007 |
Stomatitis |
54 |
0.917 |
|
79 |
|
P
|
LNG032 |
Lung Cancer |
98 |
0.649 |
|
80 |
|
c
|
STR040 |
Stargardt Disease 3 |
34 |
0.649 |
|
81 |
|
|
SRC027 |
Sarcoma, Synovial |
58 |
0.649 |
|
82 |
|
|
ATM095 |
Autoimmune Disease |
61 |
0.649 |
|
83 |
|
c
|
PRK052 |
Parkinson Disease 17 |
43 |
0.649 |
|
84 |
|
P
|
STR022 |
Stargardt Disease |
61 |
0.649 |
|
85 |
|
P
|
GNR002 |
Generalized Epilepsy with Febrile Seizures Plus |
60 |
0.649 |
|
86 |
|
|
CLT003 |
Colitis |
63 |
0.649 |
|
87 |
|
|
BNR002 |
Bone Resorption Disease |
47 |
0.649 |
|
88 |
|
P
|
PRT133 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
80 |
0.649 |
|
89 |
|
c
|
MCL042 |
Macular Degeneration, Age-Related, 1 |
85 |
0.649 |
|
90 |
|
|
MVL001 |
Mevalonic Aciduria |
66 |
0.649 |
|
91 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
69 |
0.649 |
|
92 |
|
c
|
NMN014 |
Niemann-Pick Disease, Type C2 |
49 |
0.649 |
|
93 |
|
|
BCT022 |
Bacterial Infectious Disease |
56 |
0.649 |
|
94 |
|
P
|
NRB001 |
Neuroblastoma |
66 |
0.649 |
|
95 |
|
P
|
VSC011 |
Vasculitis |
61 |
0.649 |
|
96 |
|
|
SVR001 |
Severe Acute Respiratory Syndrome |
67 |
0.649 |
|
97 |
|
|
APP008 |
Appendicitis |
62 |
0.649 |
|
98 |
|
P
|
RTN016 |
Retinal Degeneration |
52 |
0.649 |
|
99 |
|
c
|
ATM104 |
Autoimmune Vasculitis |
37 |
0.649 |
|
100 |
|
P
|
DNG005 |
Dengue Virus |
56 |
0.649 |
|
101 |
|
|
ARG001 |
Argentine Hemorrhagic Fever |
34 |
0.649 |
|
102 |
|
|
LYM009 |
Lymphocytic Choriomeningitis |
46 |
0.649 |
|
103 |
|
P
|
MLN008 |
Melanoma |
76 |
0.649 |
|
104 |
|
|
GST045 |
Gastroenteritis |
58 |
0.649 |
|
105 |
|
c
|
VPS003 |
Vps35-Related Parkinson Disease |
12 |
0.649 |
|
106 |
|
|
GRS015 |
Gars1-Associated Axonal Neuropathy |
8 |
0.649 |
|
107 |
|
c
|
ERL029 |
Early-Onset, Autosomal Dominant Alzheimer Disease |
59 |
0.649 |
|
108 |
|
|
MYL005 |
Myelofibrosis |
71 |
0.551 |
|