# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
FML304 |
Familial Isolated Dilated Cardiomyopathy |
49 |
97.094 |
|
2 |
|
c
|
MYP081 |
Myopathy, Myofibrillar, 6 |
41 |
90.892 |
|
3 |
|
c
|
CRD159 |
Cardiomyopathy, Dilated, 1hh |
25 |
59.481 |
|
4 |
|
c
|
DLT002 |
Dilated Cardiomyopathy |
78 |
43.661 |
|
5 |
|
P
|
MYP004 |
Myopathy |
67 |
26.391 |
|
6 |
|
P
|
MYF003 |
Myofibrillar Myopathy |
49 |
25.015 |
|
7 |
|
c
|
CRD233 |
Cardiomyopathy, Dilated, 1b |
46 |
21.701 |
|
8 |
|
P
|
CHR071 |
Charcot-Marie-Tooth Disease |
64 |
19.671 |
|
9 |
|
|
TTH006 |
Tooth Disease |
51 |
16.407 |
|
10 |
|
P
|
NRP001 |
Neuropathy |
60 |
15.922 |
|
11 |
|
P
|
AXN001 |
Axonal Neuropathy |
35 |
15.275 |
|
12 |
|
P
|
MSC005 |
Muscular Dystrophy |
67 |
14.988 |
|
13 |
|
P
|
HYP061 |
Hypertrophic Cardiomyopathy |
69 |
14.053 |
|
14 |
|
c
|
ATR087 |
Atrial Standstill 1 |
74 |
12.703 |
|
15 |
|
P
|
ALZ034 |
Alzheimer Disease |
87 |
12.328 |
|
16 |
|
c
|
CRD069 |
Cardiomyopathy, Dilated, 1h |
42 |
12.271 |
|
17 |
|
c
|
CRD093 |
Cardiomyopathy, Dilated, 1a |
53 |
12.271 |
|
18 |
|
c
|
LMN001 |
Lmna-Related Dilated Cardiomyopathy |
34 |
12.271 |
|
19 |
|
P
|
CHR654 |
Charcot-Marie-Tooth Disease, Axonal, Type 2e |
58 |
12.065 |
|
20 |
|
P
|
LFT003 |
Left Ventricular Noncompaction |
57 |
11.789 |
|
21 |
|
P
|
LNG028 |
Long Qt Syndrome |
64 |
11.780 |
|
22 |
|
|
RGD003 |
Rigid Spine Muscular Dystrophy 1 |
56 |
9.280 |
|
23 |
|
|
MYP153 |
Myopathy, Myofibrillar, 9, with Early Respiratory Failure |
51 |
9.193 |
|
24 |
|
|
CHR377 |
Chromosome 10q26 Deletion Syndrome |
33 |
8.845 |
|
25 |
|
P
|
FML279 |
Familial Isolated Arrhythmogenic Right Ventricular Dysplasia |
28 |
8.363 |
|
26 |
|
c
|
MYP079 |
Myopathy, Myofibrillar, 5 |
48 |
7.730 |
|
27 |
|
c
|
MSC175 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
47 |
7.730 |
|
28 |
|
|
MYP094 |
Myopathy, Spheroid Body |
42 |
7.506 |
|
29 |
|
c
|
MYP078 |
Myopathy, Myofibrillar, 3 |
50 |
7.506 |
|
30 |
|
|
SPN404 |
Spinal and Bulbar Muscular Atrophy, X-Linked 1 |
61 |
6.966 |
|
31 |
|
c
|
MYP072 |
Myopathy, Myofibrillar, 1 |
55 |
6.966 |
|
32 |
|
c
|
MYP082 |
Myopathy, Myofibrillar, 2 |
40 |
6.966 |
|
33 |
|
c
|
MTC143 |
Mitochondrial Dna Depletion Syndrome 12b |
27 |
6.966 |
|
34 |
|
c
|
MYP080 |
Myopathy, Myofibrillar, 4 |
40 |
6.966 |
|
35 |
|
c
|
GNT045 |
Giant Axonal Neuropathy 2 |
24 |
6.966 |
|
36 |
|
c
|
ATS330 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy |
31 |
6.966 |
|
37 |
|
P
|
BCL017 |
B-Cell Lymphoma |
59 |
6.282 |
|
38 |
|
|
PNC041 |
Pancreatic Ductal Adenocarcinoma |
51 |
6.140 |
|
39 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
6.032 |
|
40 |
|
|
GLB002 |
Glioblastoma |
67 |
5.647 |
|
41 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
5.167 |
|
42 |
|
|
CRV035 |
Cervical Cancer |
73 |
4.634 |
|
43 |
|
P
|
ADN016 |
Adenocarcinoma |
63 |
4.454 |
|
44 |
|
P
|
NRB001 |
Neuroblastoma |
66 |
4.408 |
|
45 |
|
|
CNG034 |
Congestive Heart Failure |
69 |
4.171 |
|
46 |
|
P
|
CLR023 |
Colorectal Cancer |
100 |
4.106 |
|
47 |
|
P
|
PLY019 |
Polyneuropathy |
52 |
3.945 |
|
48 |
|
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
88 |
3.866 |
|
49 |
|
P
|
LTR001 |
Lateral Sclerosis |
58 |
3.866 |
|
50 |
|
|
THY029 |
Thyroid Carcinoma |
51 |
3.857 |
|
51 |
|
P
|
HNT016 |
Huntington Disease |
73 |
3.804 |
|
52 |
|
P
|
LKM071 |
Leukemia, Chronic Lymphocytic |
75 |
3.640 |
|
53 |
|
P
|
BRS047 |
Breast Cancer |
98 |
3.632 |
|
54 |
|
|
RNL077 |
Renal Fibrosis |
46 |
3.612 |
|
55 |
|
|
URT010 |
Ureteral Obstruction |
45 |
3.612 |
|
56 |
|
P
|
HRT032 |
Heart Disease |
81 |
3.465 |
|
57 |
|
|
GLL048 |
Glial Tumor |
52 |
3.448 |
|
58 |
|
|
GLM045 |
Glioma |
63 |
3.448 |
|
59 |
|
P
|
MYL006 |
Myeloid Leukemia |
61 |
3.333 |
|
60 |
|
P
|
MDL005 |
Medulloblastoma |
75 |
3.273 |
|
61 |
|
c
|
CRD086 |
Cardiomyopathy, Familial Hypertrophic, 1 |
69 |
3.184 |
|
62 |
|
P
|
GST053 |
Gastric Cancer |
83 |
3.141 |
|
63 |
|
|
LMB062 |
Limb Ischemia |
55 |
3.085 |
|
64 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
96 |
3.018 |
|
65 |
|
|
CHC001 |
Chickenpox |
57 |
3.018 |
|
66 |
|
|
PRG009 |
Progressive Multifocal Leukoencephalopathy |
58 |
3.018 |
|
67 |
|
|
DMY004 |
Demyelinating Disease |
50 |
3.018 |
|
68 |
|
|
END057 |
Endometrial Cancer |
72 |
2.997 |
|
69 |
|
P
|
RSP003 |
Respiratory Failure |
74 |
2.962 |
|
70 |
|
P
|
HRP006 |
Herpes Simplex |
65 |
2.878 |
|
71 |
|
P
|
CHN012 |
Chondrosarcoma |
57 |
2.834 |
|
72 |
|
P
|
SPP010 |
Suppressor of Tumorigenicity 3 |
51 |
2.834 |
|
73 |
|
|
CHN010 |
Chondroma |
43 |
2.834 |
|
74 |
|
P
|
LKM002 |
Leukemia |
67 |
2.805 |
|
75 |
|
P
|
MLN008 |
Melanoma |
76 |
2.805 |
|
76 |
|
P
|
RST002 |
Restrictive Cardiomyopathy |
54 |
2.757 |
|
77 |
|
|
ORL015 |
Oral Squamous Cell Carcinoma |
43 |
2.728 |
|
78 |
|
|
SQM006 |
Squamous Cell Carcinoma |
60 |
2.728 |
|
79 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
83 |
2.699 |
|
80 |
|
P
|
RHB003 |
Rhabdomyosarcoma |
66 |
2.648 |
|
81 |
|
P
|
BLD134 |
Bladder Cancer |
79 |
2.628 |
|
82 |
|
P
|
PRP019 |
Peripheral Nervous System Disease |
58 |
2.628 |
|
83 |
|
P
|
DMY001 |
Demyelinating Polyneuropathy |
41 |
2.565 |
|
84 |
|
|
OVR094 |
Ovarian Epithelial Cancer |
39 |
2.565 |
|
85 |
|
|
PRP080 |
Peripheral Artery Disease |
54 |
2.478 |
|
86 |
|
P
|
MYC007 |
Myocardial Infarction |
70 |
2.478 |
|
87 |
|
|
CRV002 |
Cervix Uteri Carcinoma in Situ |
47 |
2.478 |
|
88 |
|
|
BRK012 |
Broken Heart Syndrome |
42 |
2.478 |
|
89 |
|
|
CRV045 |
Cervical Intraepithelial Neoplasia |
39 |
2.478 |
|
90 |
|
|
ATX038 |
Ataxia and Polyneuropathy, Adult-Onset |
46 |
2.398 |
|
91 |
|
P
|
RTN024 |
Retinoblastoma |
73 |
2.398 |
|
92 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
69 |
2.398 |
|
93 |
|
|
NRM005 |
Neuromuscular Disease |
63 |
2.398 |
|
94 |
|
|
GTR002 |
Goiter |
53 |
2.398 |
|
95 |
|
|
ISC004 |
Ischemia |
61 |
2.357 |
|
96 |
|
|
THY128 |
Thyroid Tumor |
35 |
2.315 |
|
97 |
|
P
|
MCH002 |
Machado-Joseph Disease |
62 |
2.315 |
|
98 |
|
|
PPL022 |
Papilloma |
53 |
2.315 |
|
99 |
|
|
SQM002 |
Squamous Cell Papilloma |
46 |
2.315 |
|
100 |
|
P
|
MYS079 |
Miyoshi Muscular Dystrophy |
54 |
2.315 |
|
101 |
|
P
|
ATS308 |
Autosomal Dominant Cerebellar Ataxia |
64 |
2.315 |
|
102 |
|
|
SPL018 |
Splenomegaly |
49 |
2.315 |
|
103 |
|
|
HYP266 |
Hypoxia |
57 |
2.315 |
|
104 |
|
|
CRD132 |
Cardiac Conduction Defect |
60 |
2.286 |
|
105 |
|
|
CRD223 |
Cardiac Arrhythmia |
63 |
2.227 |
|
106 |
|
P
|
MYC008 |
Myocarditis |
59 |
2.227 |
|
107 |
|
|
EPD052 |
Epidermolysis Bullosa Simplex Superficialis |
17 |
2.134 |
|
108 |
|
P
|
OVR106 |
Ovarian Clear Cell Carcinoma |
44 |
2.134 |
|
109 |
|
|
ACQ007 |
Acquired Immunodeficiency Syndrome |
59 |
2.134 |
|
110 |
|
|
SRS001 |
Serous Cystadenocarcinoma |
52 |
2.134 |
|
111 |
|
P
|
KDN017 |
Kidney Cancer |
61 |
2.134 |
|
112 |
|
|
LNG099 |
Lung Disease |
62 |
2.064 |
|
113 |
|
|
OST159 |
Osteogenic Sarcoma |
66 |
2.035 |
|
114 |
|
|
EYL002 |
Eyelid Carcinoma |
26 |
2.035 |
|
115 |
|
P
|
ATR011 |
Atrial Fibrillation |
66 |
1.976 |
|
116 |
|
|
MLT161 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly |
55 |
1.950 |
|
117 |
|
|
MYM001 |
Myoma |
54 |
1.950 |
|
118 |
|
|
LSS003 |
Lassa Fever |
49 |
1.929 |
|
119 |
|
|
PLY150 |
Polykaryocytosis Inducer |
29 |
1.929 |
|
120 |
|
|
BRK010 |
Burkitt Lymphoma |
66 |
1.929 |
|
121 |
|
|
MYL009 |
Myelodysplastic Syndrome |
67 |
1.929 |
|
122 |
|
|
DFF005 |
Diffuse Large B-Cell Lymphoma |
54 |
1.929 |
|
123 |
|
P
|
LYM118 |
Lymphoma |
67 |
1.929 |
|
124 |
|
|
PNC129 |
Pancreatic Adenocarcinoma |
65 |
1.929 |
|
125 |
|
P
|
TBR001 |
Tuberous Sclerosis |
69 |
1.929 |
|
126 |
|
|
HMR014 |
Hemorrhagic Shock and Encephalopathy Syndrome |
19 |
1.929 |
|
127 |
|
P
|
MSC003 |
Muscular Atrophy |
52 |
1.873 |
|
128 |
|
P
|
SKL032 |
Skeletal Muscle Disease |
25 |
1.814 |
|
129 |
|
|
AGN016 |
Aging |
54 |
1.814 |
|
130 |
|
|
SYN036 |
Syncope |
45 |
1.814 |
|
131 |
|
|
ANX004 |
Anoxia |
40 |
1.793 |
|
132 |
|
|
END086 |
End Stage Renal Disease |
52 |
1.710 |
|
133 |
|
|
SVR001 |
Severe Acute Respiratory Syndrome |
67 |
1.686 |
|
134 |
|
|
SMN007 |
Seminoma |
42 |
1.686 |
|
135 |
|
|
TST014 |
Testicular Cancer |
52 |
1.686 |
|
136 |
|
P
|
RDC010 |
Reducing Body Myopathy |
33 |
1.686 |
|
137 |
|
P
|
GNT009 |
Giant Axonal Neuropathy |
46 |
1.686 |
|
138 |
|
|
CYS001 |
Cystic Fibrosis |
78 |
1.541 |
|
139 |
|
c
|
BRN108 |
Branchiootic Syndrome 1 |
62 |
1.541 |
|
140 |
|
|
ARR042 |
Arrhythmogenic Right Ventricular Cardiomyopathy |
61 |
1.397 |
|
141 |
|
P
|
LKM062 |
Leukemia, Acute Lymphoblastic |
69 |
1.369 |
|
142 |
|
P
|
PRK057 |
Parkinson Disease, Late-Onset |
80 |
1.324 |
|
143 |
|
|
STR067 |
Stroke, Ischemic |
80 |
1.209 |
|
144 |
|
|
OVR105 |
Ovarian Serous Carcinoma |
37 |
1.209 |
|
145 |
|
|
CRB004 |
Cerebral Artery Occlusion |
45 |
1.209 |
|
146 |
|
|
HRD141 |
Hereditary Proximal Myopathy with Early Respiratory Failure |
25 |
1.209 |
|
147 |
|
|
ESP021 |
Esophageal Cancer |
83 |
1.145 |
|
148 |
|
|
IMM167 |
Immune Deficiency Disease |
78 |
1.081 |
|
149 |
|
|
TRM010 |
Traumatic Brain Injury |
51 |
1.081 |
|
150 |
|
|
HYP066 |
Hyperglycemia |
61 |
1.081 |
|
151 |
|
|
BRN071 |
Brain Injury |
50 |
1.081 |
|
152 |
|
P
|
KLZ004 |
Kala-Azar 1 |
41 |
0.937 |
|
153 |
|
|
CTN007 |
Cutaneous Leishmaniasis |
62 |
0.937 |
|
154 |
|
|
LSH001 |
Leishmaniasis |
64 |
0.937 |
|
155 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
70 |
0.937 |
|
156 |
|
P
|
LMB006 |
Limb-Girdle Muscular Dystrophy |
52 |
0.937 |
|
157 |
|
|
48X005 |
48,xyyy |
39 |
0.937 |
|
158 |
|
P
|
LNG032 |
Lung Cancer |
98 |
0.765 |
|
159 |
|
P
|
MYS003 |
Myasthenia Gravis |
68 |
0.765 |
|
160 |
|
|
MSC157 |
Muscular Dystrophy, Duchenne Type |
79 |
0.765 |
|
161 |
|
P
|
SCH015 |
Schizophrenia |
74 |
0.765 |
|
162 |
|
c
|
GLY008 |
Glycogen Storage Disease Ii |
72 |
0.765 |
|
163 |
|
c
|
HYP595 |
Hypertension, Essential |
85 |
0.765 |
|
164 |
|
|
MLT157 |
Multiple System Atrophy 1 |
69 |
0.765 |
|
165 |
|
|
PLM129 |
Pulmonary Disease, Chronic Obstructive |
74 |
0.765 |
|
166 |
|
|
DBT010 |
Diabetic Neuropathy |
54 |
0.765 |
|
167 |
|
P
|
SKN015 |
Skin Carcinoma |
71 |
0.765 |
|
168 |
|
|
NNN005 |
Non-Invasive Bladder Papillary Urothelial Neoplasm |
25 |
0.765 |
|
169 |
|
|
ADN018 |
Adenoma |
59 |
0.765 |
|
170 |
|
P
|
HYP086 |
Hypothyroidism |
69 |
0.765 |
|
171 |
|
|
TCL027 |
T-Cell Acute Lymphoblastic Leukemia |
51 |
0.765 |
|
172 |
|
P
|
MTR014 |
Motor Neuron Disease |
65 |
0.765 |
|
173 |
|
P
|
TMP001 |
Temporal Lobe Epilepsy |
49 |
0.765 |
|
174 |
|
|
STT001 |
Status Epilepticus |
59 |
0.765 |
|
175 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
68 |
0.691 |
|
176 |
|
|
DSS008 |
Disease of Mental Health |
74 |
0.691 |
|
177 |
|
|
CHL152 |
Childhood Acute Lymphocytic Leukemia |
50 |
0.605 |
|
178 |
|
|
MYL069 |
Myeloma, Multiple |
77 |
0.605 |
|
179 |
|
|
SYS003 |
Systolic Heart Failure |
49 |
0.605 |
|
180 |
|
P
|
ATS364 |
Autism |
69 |
0.541 |
|
181 |
|
|
MTB016 |
Metabolic Myopathy |
30 |
0.541 |
|
182 |
|
P
|
SZR006 |
Seizure Disorder |
70 |
0.541 |
|
183 |
|
c
|
ACT134 |
Acute Liver Failure |
59 |
0.541 |
|
|
185 |
|
|
ALC007 |
Alcohol Dependence |
66 |
0.541 |
|
186 |
|
|
PRP027 |
Peripheral Vascular Disease |
71 |
0.541 |
|
187 |
|
c
|
MJR022 |
Major Affective Disorder 8 |
38 |
0.541 |
|
188 |
|
|
MSC007 |
Muscle Hypertrophy |
64 |
0.541 |
|
189 |
|
c
|
ATS007 |
Autism Spectrum Disorder |
72 |
0.541 |
|
190 |
|
|
CLR108 |
Colorectal Adenoma |
64 |
0.541 |
|
191 |
|
|
NNL005 |
Non-Alcoholic Fatty Liver Disease |
63 |
0.541 |
|
192 |
|
|
HTC003 |
Hutchinson-Gilford Progeria Syndrome |
65 |
0.541 |
|
193 |
|
c
|
MCL042 |
Macular Degeneration, Age-Related, 1 |
85 |
0.541 |
|
194 |
|
c
|
PCH010 |
Pachyonychia Congenita 3 |
43 |
0.541 |
|
195 |
|
P
|
MJR001 |
Major Depressive Disorder |
68 |
0.541 |
|
196 |
|
c
|
MJR024 |
Major Affective Disorder 9 |
41 |
0.541 |
|
197 |
|
|
OCL069 |
Ocular Motor Apraxia |
57 |
0.541 |
|
198 |
|
P
|
SRC025 |
Sarcoidosis 1 |
71 |
0.541 |
|
199 |
|
|
RNL114 |
Renal Cell Carcinoma, Nonpapillary |
80 |
0.541 |
|
200 |
|
c
|
MYP119 |
Myopathy, Myofibrillar, 7 |
31 |
0.541 |
|
201 |
|
|
NRM018 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
45 |
0.541 |
|
202 |
|
P
|
HYP730 |
Hypogonadotropic Hypogonadism |
53 |
0.541 |
|
203 |
|
|
HYL005 |
Hyaline Body Myopathy |
41 |
0.541 |
|
204 |
|
P
|
AMY004 |
Amyloidosis |
70 |
0.541 |
|
205 |
|
P
|
MLG056 |
Malignant Hyperthermia |
66 |
0.541 |
|
206 |
|
|
FTT001 |
Fatty Liver Disease |
62 |
0.541 |
|
207 |
|
P
|
MTC133 |
Mitochondrial Myopathy |
50 |
0.541 |
|
208 |
|
|
CNG562 |
Congenital Hypogonadotropic Hypogonadism |
33 |
0.541 |
|
209 |
|
|
INT002 |
Intermittent Claudication |
61 |
0.541 |
|
210 |
|
P
|
PTT006 |
Pituitary Adenoma |
55 |
0.541 |
|
211 |
|
c
|
ACT076 |
Acute Myocarditis |
47 |
0.541 |
|
212 |
|
P
|
BPL003 |
Bipolar Disorder |
56 |
0.541 |
|
213 |
|
|
MNT002 |
Mental Depression |
57 |
0.541 |
|
214 |
|
|
CRV038 |
Cervical Squamous Cell Carcinoma |
58 |
0.541 |
|
215 |
|
P
|
RTN016 |
Retinal Degeneration |
52 |
0.541 |
|
216 |
|
P
|
INF038 |
Influenza |
68 |
0.541 |
|
217 |
|
|
ACT084 |
Acute Stress Disorder |
54 |
0.541 |
|
218 |
|
|
SBC011 |
Sebaceous Adenocarcinoma |
43 |
0.541 |
|
219 |
|
|
PRP009 |
Peripartum Cardiomyopathy |
55 |
0.541 |
|
220 |
|
|
HLX001 |
Helix Syndrome |
48 |
0.541 |
|
221 |
|
|
ENC067 |
Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis |
50 |
0.541 |
|
222 |
|
|
PLV003 |
Pelvic Inflammatory Disease |
55 |
0.541 |
|
223 |
|
P
|
VSC007 |
Vascular Disease |
63 |
0.541 |
|
224 |
|
|
SNS003 |
Sensory Peripheral Neuropathy |
52 |
0.541 |
|
225 |
|
c
|
BSL007 |
Basal Cell Carcinoma |
68 |
0.541 |
|
226 |
|
P
|
AML002 |
Amelogenesis Imperfecta |
56 |
0.541 |
|
227 |
|
P
|
BND020 |
Bone Disease |
59 |
0.541 |
|
228 |
|
|
HMN014 |
Human Immunodeficiency Virus Infectious Disease |
54 |
0.541 |
|
229 |
|
P
|
NML001 |
Nemaline Myopathy |
48 |
0.541 |
|
230 |
|
|
HYP080 |
Hypogonadism |
50 |
0.541 |
|
231 |
|
|
PST028 |
Post-Traumatic Stress Disorder |
59 |
0.541 |
|
232 |
|
c
|
ADL068 |
Adult-Onset Nemaline Myopathy |
23 |
0.541 |
|
233 |
|
|
HYP056 |
Hypoglycemia |
65 |
0.541 |
|
234 |
|
|
NCR015 |
Necrotizing Autoimmune Myopathy |
27 |
0.541 |
|
235 |
|
|
DPR016 |
Depression |
65 |
0.541 |
|
236 |
|
P
|
MTC069 |
Mitochondrial Disorders |
57 |
0.541 |
|
237 |
|
|
CYT006 |
Cytoplasmic Body Myopathy |
18 |
0.541 |
|
238 |
|
P
|
NRV007 |
Nervous System Disease |
67 |
0.541 |
|
239 |
|
|
SZR001 |
Sezary's Disease |
60 |
0.533 |
|