Search results for SPG7

238 hits were found for SPG7

# Family MCID Name MIFTS Score
1
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58 96.432
2
c HRD010 Hereditary Spastic Paraplegia 66 36.046
3
PRP016 Paraplegia 52 28.726
4
P SPS008 Spastic Ataxia 41 25.718
5
SPS019 Spastic Paraparesis 38 24.038
6
P PLY019 Polyneuropathy 52 18.625
7
P PRP019 Peripheral Nervous System Disease 58 17.789
8
SPS057 Spasticity 42 16.165
9
P SZR006 Seizure Disorder 70 15.445
10
P NRP001 Neuropathy 60 13.951
11
P MTC069 Mitochondrial Disorders 57 13.763
12
ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 23 12.809
13
KRN002 Kearns-Sayre Syndrome 63 12.798
14
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 12.693
15
c CHR095 Chronic Progressive External Ophthalmoplegia 49 12.009
16
c HRD026 Hereditary Ataxia 47 11.965
17
c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56 11.516
18
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 10.704
19
DSS008 Disease of Mental Health 74 10.653
20
c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55 10.530
21
c ATS307 Autosomal Recessive Cerebellar Ataxia 39 10.095
22
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 9.946
23
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 49 9.617
24
c SPN308 Spinocerebellar Ataxia 28 48 9.492
25
P OPT006 Optic Nerve Disease 58 9.486
26
P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 58 9.164
27
c OPT053 Optic Atrophy 1 62 8.927
28
c SPS148 Spastic Paraplegia 31, Autosomal Dominant 47 8.845
29
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 49 8.674
30
HTC003 Hutchinson-Gilford Progeria Syndrome 65 8.613
31
c SCN007 Secondary Hyperparathyroidism 51 8.613
32
P SPN046 Spinal Muscular Atrophy 63 8.613
33
MTR007 Motor Peripheral Neuropathy 40 8.613
34
P HYP024 Hypoparathyroidism 55 8.613
35
c SPS215 Spastic Paraplegia 3, Autosomal Dominant 62 8.361
36
16Q001 16q24.3 Microdeletion Syndrome 27 8.333
37
c PRM092 Primary Lateral Sclerosis, Adult, 1 38 7.615
38
c SPS149 Spastic Paraplegia 8, Autosomal Dominant 48 7.548
39
P PRX014 Proximal Spinal Muscular Atrophy 42 7.533
40
P CMP101 Complex Hereditary Spastic Paraplegia 20 7.440
41
c SPS129 Spastic Paraplegia 39, Autosomal Recessive 44 7.322
42
P SPS133 Spastic Paraplegia 2, X-Linked 50 7.192
43
c SPS117 Spastic Paraplegia 10, Autosomal Dominant 48 7.192
44
c SPS071 Spastic Paraplegia 48, Autosomal Recessive 44 7.192
45
c SPS106 Spastic Paraplegia 54, Autosomal Recessive 42 7.192
46
c SPS107 Spastic Paraplegia 18, Autosomal Recessive 41 7.192
47
c HRD220 Hereditary Spastic Paraplegia 30 32 7.192
48
ERL001 Early Myoclonic Encephalopathy 62 7.192
49
c SPS127 Spastic Paraplegia 6, Autosomal Dominant 48 7.044
50
c SPS097 Spastic Paraplegia 13, Autosomal Dominant 41 7.044
51
c SPS095 Spastic Paraplegia 47, Autosomal Recessive 43 7.044
52
c SPS099 Spastic Paraplegia 42, Autosomal Dominant 40 7.044
53
SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 60 6.869
54
c SPS124 Spastic Paraplegia 28, Autosomal Recessive 41 6.869
55
c SPS101 Spastic Paraplegia 56, Autosomal Recessive 39 6.869
56
c SPS109 Spastic Paraplegia 46, Autosomal Recessive 42 6.869
57
c SPS123 Spastic Paraplegia 32, Autosomal Recessive 33 6.641
58
c SPS103 Spastic Paraplegia 50, Autosomal Recessive 41 6.641
59
c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 33 6.641
60
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 39 6.641
61
c SPS153 Spastic Paraplegia 35, Autosomal Recessive 50 6.641
62
c OPT024 Optic Atrophy 5 35 6.641
63
DNT005 Dentatorubral-Pallidoluysian Atrophy 60 6.641
64
KBG001 Kbg Syndrome 54 6.641
65
c HRD186 Hereditary Spastic Paraplegia 51 29 6.641
66
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 44 6.641
67
c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 42 6.090
68
P NRP066 Neuropathy, Hereditary Motor and Sensory, Type Via, with Optic Atrophy 42 6.090
69
c OPT068 Optic Atrophy 3, Autosomal Dominant 45 6.090
70
P PRR025 Perrault Syndrome 42 6.090
71
c SPS198 Spastic Paraplegia 16, X-Linked 30 6.090
72
c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29 6.090
73
c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 43 6.090
74
MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 43 6.090
75
c SPS157 Spastic Paraplegia 64, Autosomal Recessive 40 6.090
76
c SPS228 Spastic Paraplegia 63, Autosomal Recessive 35 6.090
77
MSS001 Masa Syndrome 60 6.090
78
LBR038 Leber Hereditary Optic Neuropathy, Modifier of 62 6.090
79
c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40 6.090
80
BHR001 Behr Syndrome 51 6.090
81
c OPT065 Optic Atrophy 9 33 6.090
82
c SPS171 Spastic Ataxia 5 20 6.090
83
c HRD188 Hereditary Spastic Paraplegia 72 28 6.090
84
P FML068 Familial Hypocalciuric Hypercalcemia 55 6.090
85
P MTC133 Mitochondrial Myopathy 50 6.090
86
CRN031 Cranial Nerve Disease 37 6.090
87
CRB027 Cerebellar Disease 47 6.090
88
OCL011 Ocular Motility Disease 44 6.090
89
c SPS091 Spastic Paraplegia 4 27 4.398
90
P LTR001 Lateral Sclerosis 58 3.857
91
P PTS002 Ptosis 52 3.742
92
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 3.497
93
P PRK039 Parkinsonism 55 3.234
94
P MTR014 Motor Neuron Disease 65 2.907
95
DYS073 Dysphagia 53 2.907
96
c AMY091 Amyotrophic Lateral Sclerosis 1 88 2.837
97
P CRB059 Cerebellar Degeneration 36 2.737
98
FRN006 Frontotemporal Dementia 68 2.530
99
c SPS025 Spastic Paraplegia 15 30 2.524
100
P DYS154 Dystonia 64 2.445
101
P TRM003 Tremor 48 2.445
102
P SPR120 Supranuclear Palsy, Progressive, 1 69 2.356
103
P SPS012 Spastic Paraplegia 3a 32 2.271
104
P PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 54 2.261
105
ATS010 Autosomal Recessive Disease 42 2.261
106
c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 49 2.261
107
c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 53 2.261
108
P MYP004 Myopathy 67 1.935
109
c SPR009 Sporadic Breast Cancer 42 1.935
110
OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 55 1.805
111
P MSC003 Muscular Atrophy 52 1.805
112
P CRB088 Cerebral Atrophy 33 1.805
113
ISC004 Ischemia 61 1.742
114
ART140 Arteries, Anomalies of 53 1.657
115
LPP008 Lipoprotein Quantitative Trait Locus 65 1.657
116
P MYC007 Myocardial Infarction 70 1.657
117
c SPS013 Spastic Paraplegia 8 31 1.653
118
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 1.635
119
P LNG021 Lung Occult Small Cell Carcinoma 20 1.635
120
LNG019 Lung Combined Type Small Cell Carcinoma 32 1.635
121
SNS003 Sensory Peripheral Neuropathy 52 1.558
122
MST006 Mast Syndrome 40 1.457
123
OPT070 Optic Nerve Hypoplasia, Bilateral 56 1.442
124
P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 39 1.442
125
c SPS038 Spastic Paraplegia 39 21 1.232
126
XNT003 Xanthomatosis 49 1.232
127
CRV043 Cervical Dystonia 46 1.232
128
CRB011 Cerebrotendinous Xanthomatosis 65 1.232
129
c SPN311 Spinocerebellar Ataxia 13 48 1.232
130
P SCL018 Scoliosis 57 1.232
131
PTH003 Pathologic Nystagmus 52 1.232
132
P PRH002 Pure Hereditary Spastic Paraplegia 21 1.102
133
c SPS028 Spastic Paraplegia 18 16 1.102
134
c SPS021 Spastic Paraplegia 10 27 1.102
135
P MLT020 Multiple Sclerosis 79 1.102
136
c PRM108 Primary Progressive Multiple Sclerosis 51 1.102
137
c SPN309 Spinocerebellar Ataxia 6 58 1.102
138
c SPN312 Spinocerebellar Ataxia 14 46 1.102
139
c SPS237 Spastic Paraplegia 30, Autosomal Dominant 37 1.102
140
c PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 47 1.102
141
P STR020 Strabismus 56 1.102
142
MCH006 Mechanical Strabismus 40 1.102
143
PST092 Posttransplant Acute Limbic Encephalitis 28 1.102
144
P AXN001 Axonal Neuropathy 35 1.102
145
c SPS092 Spastic Paraplegia 11 33 1.102
146
XLN085 X-Linked Complicated Spastic Paraplegia Type 1 21 1.102
147
MTC005 Mitochondrial Metabolism Disease 45 0.954
148
OCL015 Oculomotor Apraxia 39 0.954
149
c SPS027 Spastic Paraplegia 17 23 0.954
150
c SPS041 Spastic Paraplegia 6 26 0.954
151
c SPS022 Spastic Paraplegia 12 18 0.954
152
c SPS023 Spastic Paraplegia 13 21 0.954
153
c SPS219 Spastic Paraplegia 17, Autosomal Dominant 42 0.954
154
APR001 Apraxia 52 0.954
155
P FRD001 Friedreich Ataxia 61 0.954
156
c BRN108 Branchiootic Syndrome 1 62 0.954
157
c SPS131 Spastic Paraplegia 12, Autosomal Dominant 41 0.954
158
MLT157 Multiple System Atrophy 1 69 0.954
159
P MVM001 Movement Disease 61 0.954
160
P LCT001 Lactic Acidosis 51 0.954
161
SYN095 Syne1 Deficiency 9 0.954
162
P PRK057 Parkinson Disease, Late-Onset 80 0.779
163
P ATX030 Ataxia-Telangiectasia 80 0.779
164
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 63 0.779
165
LGH007 Leigh Syndrome 70 0.779
166
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 39 0.779
167
c SPS203 Spastic Paraplegia 78, Autosomal Recessive 32 0.779
168
c SPS096 Spastic Paraplegia 44, Autosomal Recessive 38 0.779
169
c SPS113 Spastic Paraplegia 33, Autosomal Dominant 37 0.779
170
MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 53 0.779
171
c HYP595 Hypertension, Essential 85 0.779
172
c SPS212 Spastic Ataxia 5, Autosomal Recessive 31 0.779
173
MTC004 Mitochondrial Encephalomyopathy 42 0.779
174
LRN003 Learning Disability 49 0.779
175
c ATS438 Autosomal Recessive Spastic Ataxia 23 0.779
176
P CHR071 Charcot-Marie-Tooth Disease 64 0.779
177
TLN003 Telangiectasis 51 0.779
178
P NRN021 Neuronal Ceroid Lipofuscinosis 65 0.779
179
CHR073 Choreatic Disease 54 0.779
180
MTC036 Mitochondrial Membrane Protein-Associated Neurodegeneration 25 0.779
181
P MYC033 Myoclonus 47 0.779
182
MTC023 Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 44 0.779
183
P BRS047 Breast Cancer 98 0.551
184
P PNC035 Pancreatic Cancer 86 0.551
185
MYL005 Myelofibrosis 71 0.551
186
CLL010 Cellular Ependymoma 57 0.551
187
SPN187 Spinocerebellar Atrophy 23 0.551
188
P HRD217 Hereditary Optic Neuropathy 36 0.551
189
c SPS032 Spastic Paraplegia 24 14 0.551
190
c SPS161 Spastic Paraplegia 32 11 0.551
191
c SPS042 Spastic Paraplegia 9 21 0.551
192
P MCH002 Machado-Joseph Disease 62 0.551
193
FRG010 Fragile X Tremor/ataxia Syndrome 44 0.551
194
c SPS120 Spastic Paraplegia 24, Autosomal Recessive 27 0.551
195
c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 47 0.551
196
P CLR023 Colorectal Cancer 100 0.551
197
c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28 0.551
198
c ERL056 Early-Onset Parkinson's Disease 40 0.551
199
c AMY022 Amyotrophic Lateral Sclerosis Type 5 33 0.551
200
c RTN041 Retinitis Pigmentosa 11 42 0.551
201
c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 31 0.551
202
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 57 0.551
203
P SPN301 Spinocerebellar Ataxia 2 59 0.551
204
c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 39 0.551
205
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 66 0.551
206
c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 37 0.551
207
c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 27 0.551
208
c SPS210 Spastic Paraplegia 76, Autosomal Recessive 37 0.551
209
c SPN418 Spinocerebellar Ataxia 44 26 0.551
210
c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 38 0.551
211
c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 23 0.551
212
c SPS122 Spastic Paraplegia 52, Autosomal Recessive 39 0.551
213
c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 35 0.551
214
PHN003 Phenylketonuria 76 0.551
215
c SPN294 Spinocerebellar Ataxia 1 53 0.551
216
c SPS160 Spastic Paraplegia 73, Autosomal Dominant 38 0.551
217
c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 25 0.551
218
c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 36 0.551
219
c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 27 0.551
220
P NRD007 Neurodegeneration with Brain Iron Accumulation 52 0.551
221
c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 45 0.551
222
AP4001 Ap-4-Associated Hereditary Spastic Paraplegia 38 0.551
223
c SPN419 Spinocerebellar Ataxia 45 36 0.551
224
c SPN420 Spinocerebellar Ataxia 46 27 0.551
225
P KRT007 Keratoconus 50 0.551
226
c OPT080 Optic Atrophy 12 24 0.551
227
P CLR019 Color Blindness 48 0.551
228
TTH006 Tooth Disease 51 0.551
229
DMY004 Demyelinating Disease 50 0.551
230
FMR011 Fumarate Hydratase Deficiency 36 0.551
232
P NRF002 Neurofibromatosis 57 0.551
233
c SPS230 Spastic Paraplegia Type 49 10 0.551
234
P GNT009 Giant Axonal Neuropathy 46 0.551
235
SRC031 Serac1 Deficiency 8 0.551
236
ATN005 Autonomic Dysfunction 46 0.551
237
c HRD088 Hereditary Neuropathies 33 0.551
238
P JVN050 Juvenile Amyotrophic Lateral Sclerosis 42 0.551
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