Search results for (2E)-Dodecenoyl-CoA

395 hits were found for (2E)-Dodecenoyl-CoA

# Family MCID Name MIFTS Score
1
P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 59 9.853
2
c WRD033 Waardenburg Syndrome, Type 2e 53 7.467
3
c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 35 6.141
4
c PNT034 Pontocerebellar Hypoplasia, Type 2e 48 5.715
5
c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 60 4.819
6
c PSD092 Pseudohypoaldosteronism, Type Iie 39 4.805
7
IMM140 Immunodeficiency 47 56 3.729
8
c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 52 3.071
9
GNY003 Guanylate Cyclase 2e, Pseudogene 14 2.212
10
c ART054 Arthrogryposis, Distal, Type 2e 14 2.193
11
P MSC005 Muscular Dystrophy 66 0.136
12
P LMB006 Limb-Girdle Muscular Dystrophy 53 0.136
13
P ICH004 Ichthyosis 54 0.131
14
ICH002 Ichthyosis Bullosa of Siemens 43 0.131
15
P CHR071 Charcot-Marie-Tooth Disease 65 0.126
16
TTH006 Tooth Disease 46 0.126
17
KRT009 Keratosis 51 0.111
18
P ATS411 Autosomal Dominant Epidermolytic Ichthyosis 38 0.111
19
EPD002 Epidermolytic Hyperkeratosis 56 0.105
20
P TRC086 Trichohepatoenteric Syndrome 1 62 0.078
21
P NRP001 Neuropathy 56 0.078
22
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 55 0.078
23
P PRP019 Peripheral Nervous System Disease 58 0.070
24
THR013 Thoracic Outlet Syndrome 54 0.070
25
P QLT011 Qualitative or Quantitative Defects of Sarcoglycan 26 0.070
26
P ANR048 Aniridia 1 63 0.061
27
ANR007 Anorexia Nervosa 63 0.061
28
ACN002 Acanthosis Nigricans 60 0.061
29
VSL002 Visual Epilepsy 59 0.061
30
P SZR006 Seizure Disorder 56 0.061
31
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51 0.061
32
HPT082 Hepatic Adenomas, Familial 44 0.061
33
c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 43 0.061
34
ADP007 Adie Pupil 39 0.061
35
ATX010 Ataxia Neuropathy Spectrum 34 0.061
36
ACT064 Acute Necrotizing Encephalitis 33 0.061
37
HNM002 Hinman Syndrome 27 0.061
38
BLD137 Blood Group--Ahonen 16 0.061
39
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.050
40
P RTN008 Retinitis Pigmentosa 79 0.050
41
c SPN225 Spondyloarthropathy 1 73 0.050
42
MSC157 Muscular Dystrophy, Duchenne Type 72 0.050
43
P ANG001 Angelman Syndrome 69 0.050
44
P LKM062 Leukemia, Acute Lymphoblastic 69 0.050
45
AND002 Androgen Insensitivity Syndrome 66 0.050
46
BRR014 Barrett Esophagus 65 0.050
47
P PRS038 Personality Disorder 65 0.050
48
NRM005 Neuromuscular Disease 64 0.050
49
c BRN108 Branchiootic Syndrome 1 62 0.050
50
P AXN002 Axenfeld-Rieger Syndrome 59 0.050
51
P WRD001 Waardenburg's Syndrome 59 0.050
52
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.050
53
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 56 0.050
54
P DRR001 Diarrhea 55 0.050
55
MYP159 Myopathy, Proximal, with Ophthalmoplegia 55 0.050
56
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 0.050
57
SNS003 Sensory Peripheral Neuropathy 54 0.050
58
HLX001 Helix Syndrome 47 0.050
59
RTN023 Retinitis 46 0.050
60
c WRD032 Waardenburg Syndrome, Type 2a 46 0.050
61
c WRD031 Waardenburg Syndrome, Type 3 45 0.050
62
c PNT036 Pontocerebellar Hypoplasia, Type 6 45 0.050
63
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.050
64
NRR001 Neuroretinitis 42 0.050
65
P AXN001 Axonal Neuropathy 36 0.050
66
ALR002 Al-Raqad Syndrome 33 0.050
67
c BLD140 Blood Group, I System 32 0.050
68
NRN002 Neuronitis 32 0.050
69
MYC088 Mycobacterium Avium Complex Infections 29 0.050
70
c WRD029 Waardenburg Syndrome, Type 2b 29 0.050
71
c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 24 0.050
72
AND005 Androgen Insensitivity Syndrome, Mild 19 0.050
73
ESP021 Esophageal Cancer 90 0.035
74
P ATX030 Ataxia-Telangiectasia 82 0.035
75
c HPT073 Hepatitis C Virus 72 0.035
76
HMN044 Human Immunodeficiency Virus Type 1 71 0.035
77
CNT097 Central Hypoventilation Syndrome, Congenital 71 0.035
78
P EPL164 Epilepsy 71 0.035
79
WRN001 Werner Syndrome 69 0.035
80
CRB037 Cerebral Palsy 69 0.035
81
SKN019 Skin Melanoma 68 0.035
82
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 67 0.035
83
c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67 0.035
84
ART001 Arterial Tortuosity Syndrome 66 0.035
85
LBR036 Leber Plus Disease 66 0.035
86
c HRD010 Hereditary Spastic Paraplegia 66 0.035
87
P NRV007 Nervous System Disease 66 0.035
88
P HRS035 Hirschsprung Disease 1 65 0.035
89
P DYS154 Dystonia 65 0.035
90
PPL049 Papillon-Lefevre Syndrome 65 0.035
91
P VNW001 Von Willebrand's Disease 65 0.035
92
P MTR014 Motor Neuron Disease 65 0.035
93
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.035
94
PND002 Pendred Syndrome 65 0.035
95
c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 65 0.035
96
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 0.035
97
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.035
98
NRF007 Neurofibroma 64 0.035
99
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64 0.035
100
P DST002 Distal Arthrogryposis 63 0.035
101
P MVM001 Movement Disease 63 0.035
102
P PSR002 Psoriasis 62 0.035
103
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 0.035
104
P SPN046 Spinal Muscular Atrophy 62 0.035
105
c SVR001 Severe Acute Respiratory Syndrome 62 0.035
106
c MLN065 Melanocytic Nevus Syndrome, Congenital 62 0.035
107
P BCK002 Beckwith-Wiedemann Syndrome 62 0.035
108
P ACR001 Aicardi-Goutieres Syndrome 62 0.035
109
MSS001 Masa Syndrome 62 0.035
110
NTR005 Nutritional Deficiency Disease 62 0.035
111
P KLL001 Kallmann Syndrome 61 0.035
112
P ENC018 Encephalopathy 61 0.035
113
WLL001 Williams-Beuren Syndrome 60 0.035
114
P CRB101 Cerebrooculofacioskeletal Syndrome 1 60 0.035
115
ACQ007 Acquired Immunodeficiency Syndrome 60 0.035
116
P SNS001 Sensorineural Hearing Loss 60 0.035
117
STT001 Status Epilepticus 60 0.035
118
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 0.035
119
c ALB021 Albinism, Oculocutaneous, Type Ii 59 0.035
120
PBL005 Piebald Trait 59 0.035
121
P MCR010 Microcephaly 59 0.035
122
WLF002 Wolf-Hirschhorn Syndrome 59 0.035
123
LGS001 Legius Syndrome 59 0.035
124
MYP136 Myopathy, Centronuclear, X-Linked 59 0.035
125
PRG009 Progressive Multifocal Leukoencephalopathy 59 0.035
126
P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 59 0.035
127
ALX003 Alexander Disease 59 0.035
128
P CNT004 Centronuclear Myopathy 59 0.035
129
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 59 0.035
130
NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 59 0.035
131
P BCL017 B-Cell Lymphoma 58 0.035
132
TTZ003 Tietz Albinism-Deafness Syndrome 58 0.035
133
c PTT056 Pituitary Adenoma 1, Multiple Types 58 0.035
134
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 0.035
135
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.035
136
EYD002 Eye Disease 58 0.035
137
c DWL002 Dowling-Degos Disease 1 58 0.035
138
P NRP063 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 57 0.035
139
P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 57 0.035
140
MCR013 Microphthalmia 57 0.035
141
c SPS153 Spastic Paraplegia 35, Autosomal Recessive 57 0.035
142
c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56 0.035
143
c INT072 Intestinal Pseudo-Obstruction 56 0.035
144
P CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 56 0.035
145
SCP002 Scapuloperoneal Spinal Muscular Atrophy 56 0.035
146
c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 56 0.035
147
P PLY019 Polyneuropathy 56 0.035
148
c WRD030 Waardenburg Syndrome, Type 1 56 0.035
149
AGN016 Aging 56 0.035
150
c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 55 0.035
151
c SPN395 Spinal Muscular Atrophy, Type Ii 55 0.035
152
P DYS193 Dystonia 11, Myoclonic 55 0.035
153
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 55 0.035
154
P ALP106 Alport Syndrome 1, X-Linked 55 0.035
155
c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55 0.035
156
SJG002 Sjogren-Larsson Syndrome 54 0.035
157
DBT010 Diabetic Neuropathy 54 0.035
158
P LTR001 Lateral Sclerosis 54 0.035
159
P TRM003 Tremor 54 0.035
160
HYP691 Hypomelanosis of Ito 53 0.035
161
c PRM092 Primary Lateral Sclerosis, Adult, 1 53 0.035
162
P HML001 Hemolytic-Uremic Syndrome 53 0.035
163
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 53 0.035
164
P ACT008 Actinic Keratosis 53 0.035
165
CHR073 Choreatic Disease 52 0.035
166
PRP016 Paraplegia 52 0.035
167
CHR629 Charcot-Marie-Tooth Disease and Deafness 52 0.035
168
P HYP730 Hypogonadotropic Hypogonadism 52 0.035
169
c ACR116 Aicardi-Goutieres Syndrome 1 52 0.035
170
P HMG032 Hemoglobin H Disease 52 0.035
171
P SPN408 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 52 0.035
172
P MSC003 Muscular Atrophy 52 0.035
173
SPS003 Spastic Diplegia 51 0.035
174
ALK024 Alkuraya-Kucinskas Syndrome 51 0.035
175
HYP186 Hypertrophic Neuropathy of Dejerine-Sottas 51 0.035
176
PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 51 0.035
177
P HYP077 Hypertrichosis 50 0.035
178
LNT004 Lentigines 50 0.035
179
c GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 50 0.035
180
LNG015 Lingual-Facial-Buccal Dyskinesia 50 0.035
181
DYS073 Dysphagia 50 0.035
182
c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 50 0.035
183
P OCL001 Ocular Albinism 50 0.035
184
c CHR516 Charcot-Marie-Tooth Disease, Type 4c 50 0.035
185
HYP080 Hypogonadism 50 0.035
186
c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 49 0.035
187
P SPS133 Spastic Paraplegia 2, X-Linked 49 0.035
188
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 49 0.035
189
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 49 0.035
190
c NRN037 Neuronopathy, Distal Hereditary Motor, Type Va 49 0.035
191
P HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 49 0.035
192
YNS002 Yunis-Varon Syndrome 49 0.035
193
QDR001 Quadriplegia 48 0.035
194
DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 48 0.035
195
c SPS117 Spastic Paraplegia 10, Autosomal Dominant 48 0.035
196
c CHR420 Charcot-Marie-Tooth Disease, Type 4j 48 0.035
197
c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 48 0.035
198
P HRD021 Hereditary Sensory Neuropathy 48 0.035
199
c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 48 0.035
200
c WRD020 Waardenburg Syndrome, Type 4a 48 0.035
201
GLD006 Goldberg-Shprintzen Syndrome 47 0.035
202
c SPS127 Spastic Paraplegia 6, Autosomal Dominant 47 0.035
203
c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 47 0.035
204
RSS026 Roussy-Levy Hereditary Areflexic Dystasia 47 0.035
205
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 47 0.035
206
c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 47 0.035
207
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 47 0.035
208
c SPS148 Spastic Paraplegia 31, Autosomal Dominant 46 0.035
209
c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 46 0.035
210
ATN005 Autonomic Dysfunction 46 0.035
211
c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 46 0.035
212
ALB002 Albinism 46 0.035
213
MGC001 Megacolon 46 0.035
214
P PNT019 Pontocerebellar Hypoplasia 46 0.035
215
P MYC033 Myoclonus 46 0.035
216
c SPS149 Spastic Paraplegia 8, Autosomal Dominant 46 0.035
217
c CHR376 Charcot-Marie-Tooth Disease, Type 4d 46 0.035
218
c CHR421 Charcot-Marie-Tooth Disease, Type 4h 46 0.035
219
c WRD019 Waardenburg Syndrome, Type 4b 45 0.035
220
P GNT009 Giant Axonal Neuropathy 45 0.035
221
c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 45 0.035
222
c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 45 0.035
223
c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 45 0.035
224
c CHR517 Charcot-Marie-Tooth Disease, Type 4a 45 0.035
225
P PRX014 Proximal Spinal Muscular Atrophy 45 0.035
226
c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 45 0.035
227
c WRD024 Waardenburg Syndrome, Type 4c 45 0.035
228
c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 44 0.035
229
c PCH010 Pachyonychia Congenita 3 44 0.035
230
P PHS005 Peho Syndrome 44 0.035
231
c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 44 0.035
232
c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 44 0.035
233
P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 44 0.035
234
c AMY090 Amyotrophic Lateral Sclerosis 8 43 0.035
235
c SPS071 Spastic Paraplegia 48, Autosomal Recessive 43 0.035
236
c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 43 0.035
237
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 43 0.035
238
c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 43 0.035
239
c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 43 0.035
240
c PNT049 Pontocerebellar Hypoplasia, Type 2d 43 0.035
241
P AMY106 Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia 43 0.035
242
P DMY001 Demyelinating Polyneuropathy 43 0.035
243
c SPS129 Spastic Paraplegia 39, Autosomal Recessive 42 0.035
244
PHS023 Phosphoserine Aminotransferase Deficiency 42 0.035
245
c SPS219 Spastic Paraplegia 17, Autosomal Dominant 42 0.035
246
MNN017 Mononeuropathy 42 0.035
247
c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 42 0.035
248
c SPS106 Spastic Paraplegia 54, Autosomal Recessive 42 0.035
249
c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 42 0.035
250
c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 42 0.035
251
c PRG001 Progressive Muscular Atrophy 42 0.035
252
ANC002 Anca-Associated Vasculitis 41 0.035
253
c SPS103 Spastic Paraplegia 50, Autosomal Recessive 41 0.035
254
c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 41 0.035
255
c SPS109 Spastic Paraplegia 46, Autosomal Recessive 41 0.035
256
c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 41 0.035
257
c PNT044 Pontocerebellar Hypoplasia, Type 2a 41 0.035
258
CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy 41 0.035
259
c SPS107 Spastic Paraplegia 18, Autosomal Recessive 41 0.035
260
RDN001 Reading Disorder 40 0.035
261
c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 40 0.035
262
c PNT043 Pontocerebellar Hypoplasia, Type 4 40 0.035
263
ANX004 Anoxia 40 0.035
264
c SPS131 Spastic Paraplegia 12, Autosomal Dominant 40 0.035
265
MLG005 Malignant Spindle Cell Melanoma 40 0.035
266
CLD014 Cole Disease 40 0.035
267
MST006 Mast Syndrome 40 0.035
268
c CHR653 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 40 0.035
269
c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40 0.035
270
c SPS124 Spastic Paraplegia 28, Autosomal Recessive 40 0.035
271
c AMY083 Amyotrophic Lateral Sclerosis 11 40 0.035
272
c SPS137 Spastic Paraplegia 57, Autosomal Recessive 40 0.035
273
c MYP081 Myopathy, Myofibrillar, 6 40 0.035
274
NRV004 Nerve Compression Syndrome 40 0.035
275
MLN079 Melanoma in Congenital Melanocytic Nevus 39 0.035
276
c SPS097 Spastic Paraplegia 13, Autosomal Dominant 39 0.035
277
SPS004 Spastic Quadriplegia 39 0.035
278
c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 39 0.035
279
c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 39 0.035
280
c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 39 0.035
281
c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 39 0.035
282
MTR007 Motor Peripheral Neuropathy 39 0.035
283
c SPS099 Spastic Paraplegia 42, Autosomal Dominant 38 0.035
284
c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38 0.035
285
OCH001 Ochronosis 38 0.035
286
c SPS101 Spastic Paraplegia 56, Autosomal Recessive 38 0.035
287
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 38 0.035
288
c EPL153 Epileptic Encephalopathy, Early Infantile, 29 38 0.035
289
c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 38 0.035
290
c SPN326 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 38 0.035
291
SPS019 Spastic Paraparesis 38 0.035
292
c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 38 0.035
293
CHL010 Childhood Kidney Cell Carcinoma 38 0.035
294
c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 38 0.035
295
CRB009 Cerebritis 37 0.035
296
c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 37 0.035
297
CMB018 Combined Oxidative Phosphorylation Deficiency 7 37 0.035
298
c LKD023 Leukodystrophy, Hypomyelinating, 12 37 0.035
299
c SPS113 Spastic Paraplegia 33, Autosomal Dominant 37 0.035
300
c SPS096 Spastic Paraplegia 44, Autosomal Recessive 37 0.035
301
P CRB088 Cerebral Atrophy 37 0.035
302
c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 37 0.035
303
c AMY062 Amyotrophic Lateral Sclerosis 12 37 0.035
304
MLN070 Melanoma-Astrocytoma Syndrome 37 0.035
305
c HRD088 Hereditary Neuropathies 37 0.035
306
c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 36 0.035
307
c AMY055 Amyotrophic Lateral Sclerosis 17 36 0.035
308
c SPS141 Spastic Paraplegia 61, Autosomal Recessive 36 0.035
309
c NRP029 Neuropathy, Hereditary Sensory, Type Iic 36 0.035
310
NRP010 Neuropathy, Hereditary Motor and Sensory, Russe Type 36 0.035
311
c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 35 0.035
312
c WRD022 Waardenburg Syndrome, Type 2d 35 0.035
313
TLC001 Telecanthus 35 0.035
314
c AMY085 Amyotrophic Lateral Sclerosis 9 35 0.035
315
CHR178 Chromosomal Triplication 35 0.035
316
GLC105 Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency 35 0.035
317
c NRN018 Neuronopathy, Distal Hereditary Motor, Type Iic 35 0.035
318
c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 34 0.035
319
c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 34 0.035
320
MLG061 Malignant Choroid Melanoma 34 0.035
321
c SPS228 Spastic Paraplegia 63, Autosomal Recessive 34 0.035
322
c NRN041 Neuronopathy, Distal Hereditary Motor, Type Iib 34 0.035
323
c PLM127 Pulmonary Hypertension, Primary, 3 34 0.035
324
c DST106 Distal Hereditary Motor Neuronopathy Type 2 34 0.035
326
P ATS426 Autosomal Dominant Distal Hereditary Motor Neuronopathy 34 0.035
327
c CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 32 0.035
328
P DST101 Distal Hereditary Motor Neuropathies 32 0.035
329
NRP049 Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux 32 0.035
330
c AMY063 Amyotrophic Lateral Sclerosis 20 32 0.035
331
c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 31 0.035
332
c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 31 0.035
333
PLY150 Polykaryocytosis Inducer 31 0.035
335
DYS001 Dyskinetic Cerebral Palsy 31 0.035
336
NRP009 Neuropathy, Hereditary Motor and Sensory, Okinawa Type 30 0.035
337
c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 30 0.035
338
MTR087 Maternal Uniparental Disomy 30 0.035
339
c SPS198 Spastic Paraplegia 16, X-Linked 30 0.035
340
c AMY022 Amyotrophic Lateral Sclerosis Type 5 30 0.035
341
MTY003 Mutyh Polyposis 30 0.035
342
c AMY023 Amyotrophic Lateral Sclerosis Type 6 29 0.035
343
c PNT046 Pontocerebellar Hypoplasia, Type 5 29 0.035
344
c CHR094 Chronic Polyneuropathy 29 0.035
345
c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29 0.035
346
c WRD010 Waardenburg Syndrome Type 4 29 0.035
347
CHL155 Childhood Spinal Muscular Atrophy 29 0.035
348
c WRD026 Waardenburg Syndrome, Type 2c 29 0.035
349
c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29 0.035
350
SCT001 Sciatic Neuropathy 29 0.035
351
P PPL023 Pupil Disease 28 0.035
352
c PLM121 Pulmonary Hypertension, Primary, 4 28 0.035
353
DLT018 Dilution, Pigmentary 28 0.035
354
HLN001 Halo Nevi 27 0.035
355
c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 27 0.035
356
c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 27 0.035
357
c HRD220 Hereditary Spastic Paraplegia 30 27 0.035
358
c ERL012 Early-Onset Glaucoma 27 0.035
359
ATM016 Autoimmune Disease of Skin and Connective Tissue 26 0.035
360
CCH001 Cochlear Disease 26 0.035
361
P SPN423 Spinal Muscular Atrophy with Lower Extremity Predominance 26 0.035
362
c SPS092 Spastic Paraplegia 11 25 0.035
363
GLL012 Gallbladder Melanoma 25 0.035
364
c CHR026 Charcot-Marie-Tooth Disease Type X 25 0.035
365
LSN001 Lesion of Sciatic Nerve 25 0.035
366
ADG002 Audiogenic Seizures 25 0.035
367
c HRD186 Hereditary Spastic Paraplegia 51 24 0.035
368
GNT176 Genetic Motor Neuron Disease 24 0.035
369
GNT018 Gianotti Crosti Syndrome 23 0.035
370
HYP213 Hypomelanotic Disorder 23 0.035
371
c CHR699 Charcot-Marie-Tooth Disease Type 2a2a 23 0.035
372
P OCL062 Ocular Albinism with Congenital Sensorineural Deafness 23 0.035
373
c HRD188 Hereditary Spastic Paraplegia 72 23 0.035
374
c CHR135 Charcot-Marie-Tooth Disease Type 2a 22 0.035
375
EXF002 Exfoliative Ichthyosis 22 0.035
376
c HRD210 Hereditary Spastic Paraplegia 23 22 0.035
377
ARG003 Argyll Robertson Pupil 22 0.035
378
HTR005 Heterochromia Iridis 22 0.035
379
EPT001 Epithelioid Cell Melanoma 21 0.035
380
c ATS390 Autosomal Dominant Non-Syndromic Intellectual Disability 9 20 0.035
381
c ATS425 Autosomal Recessive Distal Hereditary Motor Neuronopathy 19 0.035
382
MNN015 Mononeuritis of Lower Limb 19 0.035
383
c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 19 0.035
384
c SPS170 Spastic Ataxia 2 18 0.035
385
c ATS452 Autosomal Recessive Axonal Hereditary Motor and Sensory Neuropathy 18 0.035
386
c MTR062 Maternal Uniparental Disomy of Chromosome 4 17 0.035
387
c CHR571 Charcot-Marie-Tooth Disease Type 5 17 0.035
388
ASY004 Asymmetric Motor Neuropathy 17 0.035
389
c GNT045 Giant Axonal Neuropathy 2 16 0.035
390
ABN004 Abnormal Pupillary Function 15 0.035
391
TSN004 Tsen54 Pontocerebellar Hypoplasia 15 0.035
392
MFN001 Mfn2 Hereditary Motor and Sensory Neuropathy 14 0.035
393
c AXN013 Axonal Hereditary Motor and Sensory Neuropathy 13 0.035
394
GRS015 Gars1-Associated Axonal Neuropathy 11 0.035
Content
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