# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
SPN186 |
Spinal Cord Injury |
60 |
0.286 |
|
2 |
|
|
VSL002 |
Visual Epilepsy |
59 |
0.286 |
|
3 |
|
P
|
SZR006 |
Seizure Disorder |
56 |
0.286 |
|
4 |
|
P
|
MLT020 |
Multiple Sclerosis |
72 |
0.235 |
|
5 |
|
|
ATX038 |
Ataxia and Polyneuropathy, Adult-Onset |
45 |
0.203 |
|
6 |
|
|
PTH003 |
Pathologic Nystagmus |
52 |
0.198 |
|
7 |
|
P
|
TRM003 |
Tremor |
54 |
0.164 |
|
8 |
|
c
|
EPS035 |
Episodic Ataxia, Type 2 |
63 |
0.146 |
|
9 |
|
P
|
EPS003 |
Episodic Ataxia |
59 |
0.146 |
|
10 |
|
|
SPS057 |
Spasticity |
45 |
0.146 |
|
11 |
|
P
|
MYS003 |
Myasthenia Gravis |
68 |
0.140 |
|
12 |
|
|
STT001 |
Status Epilepticus |
60 |
0.134 |
|
13 |
|
|
LMB010 |
Lambert Syndrome |
30 |
0.119 |
|
14 |
|
P
|
CNR004 |
Cone-Rod Dystrophy 2 |
73 |
0.112 |
|
15 |
|
|
PRP016 |
Paraplegia |
52 |
0.112 |
|
16 |
|
|
QDR001 |
Quadriplegia |
48 |
0.103 |
|
17 |
|
P
|
ALZ034 |
Alzheimer Disease |
88 |
0.094 |
|
18 |
|
c
|
RHB024 |
Rhabdomyosarcoma 2 |
67 |
0.094 |
|
19 |
|
|
HYP005 |
Hypokalemia |
55 |
0.094 |
|
20 |
|
|
FDB001 |
Foodborne Botulism |
55 |
0.094 |
|
21 |
|
P
|
LTR001 |
Lateral Sclerosis |
54 |
0.094 |
|
22 |
|
|
LMB002 |
Lambert-Eaton Myasthenic Syndrome |
53 |
0.094 |
|
23 |
|
|
PLY118 |
Polyglucosan Body Myopathy 1 with or Without Immunodeficiency |
53 |
0.094 |
|
24 |
|
|
DMY004 |
Demyelinating Disease |
52 |
0.094 |
|
25 |
|
c
|
MLT095 |
Multiple Sclerosis 4 |
19 |
0.094 |
|
26 |
|
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
89 |
0.084 |
|
27 |
|
c
|
NRD033 |
Neurodegeneration with Brain Iron Accumulation 2a |
69 |
0.084 |
|
28 |
|
P
|
SLP006 |
Sleep Apnea |
69 |
0.084 |
|
29 |
|
P
|
TRN020 |
Turner Syndrome |
67 |
0.084 |
|
30 |
|
|
PRT037 |
Pertussis |
65 |
0.084 |
|
31 |
|
|
NRM005 |
Neuromuscular Disease |
64 |
0.084 |
|
32 |
|
|
DPR016 |
Depression |
63 |
0.084 |
|
33 |
|
P
|
SPN046 |
Spinal Muscular Atrophy |
62 |
0.084 |
|
34 |
|
P
|
NRP001 |
Neuropathy |
56 |
0.084 |
|
35 |
|
|
RLP002 |
Relapsing-Remitting Multiple Sclerosis |
56 |
0.084 |
|
36 |
|
P
|
MSC003 |
Muscular Atrophy |
52 |
0.084 |
|
37 |
|
|
PRS063 |
Paresthesia |
41 |
0.084 |
|
38 |
|
P
|
CRB059 |
Cerebellar Degeneration |
37 |
0.084 |
|
39 |
|
|
SPN033 |
Spontaneous Ocular Nystagmus |
22 |
0.084 |
|
40 |
|
P
|
PRS040 |
Prostate Cancer |
97 |
0.073 |
|
41 |
|
c
|
VNT034 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
67 |
0.073 |
|
42 |
|
|
FCT007 |
Factor Vii Deficiency |
67 |
0.073 |
|
43 |
|
c
|
MGR028 |
Migraine with or Without Aura 1 |
67 |
0.073 |
|
44 |
|
|
ACR006 |
Aceruloplasminemia |
65 |
0.073 |
|
45 |
|
|
APN008 |
Apnea, Obstructive Sleep |
64 |
0.073 |
|
46 |
|
c
|
SVR001 |
Severe Acute Respiratory Syndrome |
62 |
0.073 |
|
47 |
|
|
ALL026 |
Allergic Hypersensitivity Disease |
62 |
0.073 |
|
48 |
|
P
|
ATS308 |
Autosomal Dominant Cerebellar Ataxia |
60 |
0.073 |
|
49 |
|
P
|
OPT006 |
Optic Nerve Disease |
60 |
0.073 |
|
50 |
|
|
MNT002 |
Mental Depression |
58 |
0.073 |
|
51 |
|
|
FCL014 |
Focal Epilepsy |
54 |
0.073 |
|
52 |
|
|
NRT004 |
Neuritis |
52 |
0.073 |
|
53 |
|
|
CNT017 |
Central Nervous System Origin Vertigo |
45 |
0.073 |
|
54 |
|
P
|
ATX024 |
Ataxia-Oculomotor Apraxia 3 |
44 |
0.073 |
|
55 |
|
c
|
PRS136 |
Prostate Cancer, Hereditary, 6 |
33 |
0.073 |
|
56 |
|
c
|
PRS130 |
Prostate Cancer, Hereditary, 8 |
32 |
0.073 |
|
57 |
|
c
|
PRS135 |
Prostate Cancer, Hereditary, 4 |
22 |
0.073 |
|
58 |
|
|
STR067 |
Stroke, Ischemic |
81 |
0.060 |
|
59 |
|
c
|
PLM164 |
Pulmonary Hypertension, Primary, 1 |
75 |
0.060 |
|
60 |
|
|
HMN044 |
Human Immunodeficiency Virus Type 1 |
71 |
0.060 |
|
61 |
|
|
CRB039 |
Cerebrovascular Disease |
67 |
0.060 |
|
62 |
|
P
|
PLM037 |
Pulmonary Hypertension |
67 |
0.060 |
|
63 |
|
|
TTN003 |
Tetanus |
65 |
0.060 |
|
64 |
|
P
|
MTR014 |
Motor Neuron Disease |
65 |
0.060 |
|
65 |
|
c
|
ACT068 |
Acute Cystitis |
63 |
0.060 |
|
66 |
|
P
|
ENC018 |
Encephalopathy |
61 |
0.060 |
|
67 |
|
P
|
ENC004 |
Encephalitis |
61 |
0.060 |
|
68 |
|
P
|
GLL022 |
Guillain-Barre Syndrome |
59 |
0.060 |
|
69 |
|
P
|
OPT009 |
Optic Neuritis |
57 |
0.060 |
|
70 |
|
P
|
HDC001 |
Headache |
57 |
0.060 |
|
71 |
|
|
NNR004 |
Nonarteritic Anterior Ischemic Optic Neuropathy |
57 |
0.060 |
|
72 |
|
|
SCP002 |
Scapuloperoneal Spinal Muscular Atrophy |
56 |
0.060 |
|
73 |
|
|
ATR057 |
Atrioventricular Block |
55 |
0.060 |
|
74 |
|
|
AMN003 |
Amnestic Disorder |
54 |
0.060 |
|
75 |
|
c
|
SPN394 |
Spinal Muscular Atrophy, Type Iii |
53 |
0.060 |
|
76 |
|
c
|
PRM092 |
Primary Lateral Sclerosis, Adult, 1 |
53 |
0.060 |
|
77 |
|
|
TXC002 |
Toxic Encephalopathy |
53 |
0.060 |
|
78 |
|
|
MYL001 |
Myelitis |
51 |
0.060 |
|
79 |
|
|
MTB004 |
Metabolic Acidosis |
50 |
0.060 |
|
80 |
|
|
HLX001 |
Helix Syndrome |
47 |
0.060 |
|
81 |
|
c
|
SPN105 |
Spinocerebellar Ataxia 4 |
47 |
0.060 |
|
82 |
|
P
|
TRN034 |
Transverse Myelitis |
45 |
0.060 |
|
83 |
|
c
|
SPN398 |
Spinal Muscular Atrophy, Type Iv |
45 |
0.060 |
|
84 |
|
|
SBC016 |
Subacute Delirium |
44 |
0.060 |
|
85 |
|
|
PRS042 |
Prostate Disease |
43 |
0.060 |
|
86 |
|
|
OCL052 |
Ocular Dominance |
42 |
0.060 |
|
87 |
|
|
49X006 |
49, Xxxxy Syndrome |
41 |
0.060 |
|
88 |
|
|
VST004 |
Vestibular Disease |
41 |
0.060 |
|
89 |
|
|
ALL014 |
Allergic Encephalomyelitis |
38 |
0.060 |
|
90 |
|
c
|
CND033 |
Candidiasis, Familial, 1 |
30 |
0.060 |
|
91 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
0.042 |
|
92 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
84 |
0.042 |
|
93 |
|
P
|
ATX030 |
Ataxia-Telangiectasia |
82 |
0.042 |
|
94 |
|
|
OST012 |
Osteoarthritis |
78 |
0.042 |
|
95 |
|
P
|
PRK057 |
Parkinson Disease, Late-Onset |
78 |
0.042 |
|
96 |
|
P
|
RSP003 |
Respiratory Failure |
74 |
0.042 |
|
97 |
|
|
SVR004 |
Severe Combined Immunodeficiency |
73 |
0.042 |
|
98 |
|
|
ANX010 |
Anxiety |
73 |
0.042 |
|
99 |
|
P
|
KDN018 |
Kidney Disease |
72 |
0.042 |
|
100 |
|
P
|
HNT016 |
Huntington Disease |
72 |
0.042 |
|
101 |
|
P
|
NRB001 |
Neuroblastoma |
72 |
0.042 |
|
102 |
|
P
|
PHC003 |
Pheochromocytoma |
71 |
0.042 |
|
103 |
|
P
|
AMY004 |
Amyloidosis |
70 |
0.042 |
|
104 |
|
|
DWN001 |
Down Syndrome |
70 |
0.042 |
|
105 |
|
|
ADL002 |
Adult Syndrome |
70 |
0.042 |
|
106 |
|
P
|
ART022 |
Arthritis |
69 |
0.042 |
|
107 |
|
|
CRB037 |
Cerebral Palsy |
69 |
0.042 |
|
108 |
|
c
|
PRG042 |
Progressive Familial Heart Block, Type Ia |
69 |
0.042 |
|
109 |
|
P
|
THR014 |
Thrombocytopenia |
67 |
0.042 |
|
110 |
|
P
|
MLG056 |
Malignant Hyperthermia |
67 |
0.042 |
|
111 |
|
P
|
LNG028 |
Long Qt Syndrome |
66 |
0.042 |
|
112 |
|
P
|
DMN002 |
Dementia |
66 |
0.042 |
|
113 |
|
P
|
CNG001 |
Congenital Myasthenic Syndrome |
66 |
0.042 |
|
114 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
65 |
0.042 |
|
115 |
|
|
KHL003 |
Kohlschutter-Tonz Syndrome |
65 |
0.042 |
|
116 |
|
P
|
DYS154 |
Dystonia |
65 |
0.042 |
|
117 |
|
|
PPL049 |
Papillon-Lefevre Syndrome |
65 |
0.042 |
|
118 |
|
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
65 |
0.042 |
|
119 |
|
P
|
ART062 |
Arthrogryposis, Renal Dysfunction, and Cholestasis 1 |
65 |
0.042 |
|
120 |
|
|
KRN002 |
Kearns-Sayre Syndrome |
63 |
0.042 |
|
121 |
|
P
|
GLM045 |
Glioma |
63 |
0.042 |
|
122 |
|
|
TRN015 |
Transient Cerebral Ischemia |
63 |
0.042 |
|
123 |
|
P
|
MCH002 |
Machado-Joseph Disease |
62 |
0.042 |
|
124 |
|
|
NRM001 |
Neuromyelitis Optica |
61 |
0.042 |
|
125 |
|
|
HYP066 |
Hyperglycemia |
61 |
0.042 |
|
126 |
|
|
INT002 |
Intermittent Claudication |
61 |
0.042 |
|
127 |
|
P
|
MYL006 |
Myeloid Leukemia |
60 |
0.042 |
|
128 |
|
|
DPH001 |
Diphtheria |
60 |
0.042 |
|
129 |
|
|
TRG002 |
Trigeminal Neuralgia |
60 |
0.042 |
|
130 |
|
|
CRD223 |
Cardiac Arrhythmia |
60 |
0.042 |
|
131 |
|
|
ACQ007 |
Acquired Immunodeficiency Syndrome |
60 |
0.042 |
|
132 |
|
P
|
MYC008 |
Myocarditis |
59 |
0.042 |
|
133 |
|
P
|
SPN309 |
Spinocerebellar Ataxia 6 |
59 |
0.042 |
|
134 |
|
P
|
SLP005 |
Sleep Disorder |
59 |
0.042 |
|
135 |
|
|
ISC004 |
Ischemia |
58 |
0.042 |
|
136 |
|
P
|
BCL017 |
B-Cell Lymphoma |
58 |
0.042 |
|
137 |
|
|
ATX031 |
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus |
58 |
0.042 |
|
138 |
|
|
CNS004 |
Constipation |
58 |
0.042 |
|
139 |
|
|
GLS018 |
Glass Syndrome |
57 |
0.042 |
|
140 |
|
|
CHR070 |
Chronic Inflammatory Demyelinating Polyradiculoneuropathy |
57 |
0.042 |
|
141 |
|
|
MLT161 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly |
57 |
0.042 |
|
142 |
|
|
VSC002 |
Vascular Dementia |
57 |
0.042 |
|
143 |
|
|
BRN004 |
Brain Edema |
56 |
0.042 |
|
144 |
|
P
|
PLY019 |
Polyneuropathy |
56 |
0.042 |
|
145 |
|
P
|
GST044 |
Gastritis |
56 |
0.042 |
|
146 |
|
|
HPT022 |
Hepatoblastoma |
56 |
0.042 |
|
147 |
|
P
|
DRR001 |
Diarrhea |
55 |
0.042 |
|
148 |
|
P
|
MYP006 |
Myopia |
55 |
0.042 |
|
149 |
|
P
|
STR020 |
Strabismus |
55 |
0.042 |
|
150 |
|
|
AMY027 |
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 |
54 |
0.042 |
|
151 |
|
|
SNS003 |
Sensory Peripheral Neuropathy |
54 |
0.042 |
|
152 |
|
c
|
SPN294 |
Spinocerebellar Ataxia 1 |
53 |
0.042 |
|
153 |
|
|
PRS045 |
Prostatic Hypertrophy |
53 |
0.042 |
|
154 |
|
|
OCL006 |
Ocular Hypertension |
53 |
0.042 |
|
155 |
|
|
APR001 |
Apraxia |
52 |
0.042 |
|
156 |
|
|
TLN003 |
Telangiectasis |
52 |
0.042 |
|
157 |
|
|
SPS003 |
Spastic Diplegia |
51 |
0.042 |
|
158 |
|
|
OCL069 |
Ocular Motor Apraxia |
51 |
0.042 |
|
159 |
|
c
|
SCN036 |
Secondary Progressive Multiple Sclerosis |
51 |
0.042 |
|
160 |
|
|
PRS021 |
Prostatic Adenoma |
51 |
0.042 |
|
161 |
|
|
ILS001 |
Ileus |
51 |
0.042 |
|
162 |
|
c
|
PRM108 |
Primary Progressive Multiple Sclerosis |
51 |
0.042 |
|
163 |
|
|
TRM010 |
Traumatic Brain Injury |
51 |
0.042 |
|
164 |
|
P
|
AST007 |
Astrocytoma |
51 |
0.042 |
|
165 |
|
|
ALN001 |
Aland Island Eye Disease |
50 |
0.042 |
|
166 |
|
|
OPT003 |
Opiate Dependence |
50 |
0.042 |
|
167 |
|
c
|
DYS119 |
Dystonia 9 |
50 |
0.042 |
|
168 |
|
|
PRS129 |
Prostatic Hyperplasia, Benign |
49 |
0.042 |
|
169 |
|
|
47X002 |
47,xyy |
49 |
0.042 |
|
170 |
|
|
BRN071 |
Brain Injury |
49 |
0.042 |
|
171 |
|
|
ATS010 |
Autosomal Recessive Disease |
48 |
0.042 |
|
172 |
|
P
|
PLY020 |
Polyradiculoneuropathy |
48 |
0.042 |
|
173 |
|
|
OST062 |
Osteoarthritis with Mild Chondrodysplasia |
47 |
0.042 |
|
174 |
|
c
|
ACT076 |
Acute Myocarditis |
46 |
0.042 |
|
175 |
|
|
CRB196 |
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome |
46 |
0.042 |
|
176 |
|
|
ADR040 |
Adrenal Gland Pheochromocytoma |
46 |
0.042 |
|
177 |
|
|
GLL048 |
Glial Tumor |
45 |
0.042 |
|
178 |
|
|
PRL008 |
Paralytic Ileus |
45 |
0.042 |
|
179 |
|
|
SPS204 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity |
45 |
0.042 |
|
180 |
|
c
|
PRM038 |
Primary Agammaglobulinemia |
44 |
0.042 |
|
181 |
|
|
CVD001 |
Covid-19 |
44 |
0.042 |
|
182 |
|
|
NSP002 |
Nasopharyngitis |
43 |
0.042 |
|
183 |
|
P
|
HYP265 |
Hypotonia |
43 |
0.042 |
|
184 |
|
|
TRP009 |
Triple X Syndrome |
42 |
0.042 |
|
185 |
|
|
BCK006 |
Back Pain |
42 |
0.042 |
|
186 |
|
|
OCL011 |
Ocular Motility Disease |
42 |
0.042 |
|
187 |
|
|
SPN050 |
Spinocerebellar Degeneration |
42 |
0.042 |
|
188 |
|
|
MCH006 |
Mechanical Strabismus |
42 |
0.042 |
|
189 |
|
|
LMB024 |
Limbic Encephalitis |
41 |
0.042 |
|
190 |
|
|
RDN001 |
Reading Disorder |
40 |
0.042 |
|
191 |
|
|
ANX004 |
Anoxia |
40 |
0.042 |
|
192 |
|
P
|
ECT045 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
39 |
0.042 |
|
193 |
|
|
SPS019 |
Spastic Paraparesis |
38 |
0.042 |
|
194 |
|
|
NST002 |
Nestor-Guillermo Progeria Syndrome |
38 |
0.042 |
|
195 |
|
|
OCL015 |
Oculomotor Apraxia |
37 |
0.042 |
|
196 |
|
|
FST001 |
Foster-Kennedy Syndrome |
36 |
0.042 |
|
197 |
|
c
|
PRM015 |
Primary Cerebellar Degeneration |
36 |
0.042 |
|
198 |
|
c
|
MCR245 |
Microphthalmia, Syndromic 8 |
34 |
0.042 |
|
199 |
|
|
BRW002 |
Brown's Tendon Sheath Syndrome |
28 |
0.042 |
|
200 |
|
|
SPN187 |
Spinocerebellar Atrophy |
27 |
0.042 |
|