Search results for (2E)-Tetradecenoyl-CoA

389 hits were found for (2E)-Tetradecenoyl-CoA

# Family MCID Name MIFTS Score
1
P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 61 9.903
2
c WRD033 Waardenburg Syndrome, Type 2e 53 7.505
3
c PNT034 Pontocerebellar Hypoplasia, Type 2e 52 6.145
4
c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 34 5.366
5
c PSD092 Pseudohypoaldosteronism, Type Iie 38 4.830
6
c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 52 4.338
7
c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 61 3.765
8
c CNG412 Congenital Disorder of Glycosylation, Type Ii 54 3.748
9
GNY003 Guanylate Cyclase 2e, Pseudogene 14 2.224
10
c ART054 Arthrogryposis, Distal, Type 2e 16 2.205
11
P MSC005 Muscular Dystrophy 66 0.138
12
P LMB006 Limb-Girdle Muscular Dystrophy 53 0.138
13
P ICH004 Ichthyosis 54 0.133
14
ICH002 Ichthyosis Bullosa of Siemens 44 0.133
15
P CHR071 Charcot-Marie-Tooth Disease 64 0.129
16
TTH006 Tooth Disease 46 0.129
17
KRT009 Keratosis 53 0.113
18
P ATS411 Autosomal Dominant Epidermolytic Ichthyosis 39 0.113
19
EPD002 Epidermolytic Hyperkeratosis 56 0.107
20
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 63 0.094
21
P TRC086 Trichohepatoenteric Syndrome 1 59 0.080
22
P NRP001 Neuropathy 56 0.080
23
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 50 0.080
24
P PRP019 Peripheral Nervous System Disease 57 0.071
25
THR013 Thoracic Outlet Syndrome 53 0.071
26
P ANR048 Aniridia 1 63 0.062
27
ANR007 Anorexia Nervosa 63 0.062
28
ACN002 Acanthosis Nigricans 60 0.062
29
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51 0.062
30
c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 39 0.062
31
ADP007 Adie Pupil 39 0.062
32
ATX010 Ataxia Neuropathy Spectrum 38 0.062
33
HPT082 Hepatic Adenomas, Familial 37 0.062
34
ACT064 Acute Necrotizing Encephalitis 32 0.062
35
HNM002 Hinman Syndrome 29 0.062
36
P QLT011 Qualitative or Quantitative Defects of Sarcoglycan 22 0.062
37
BLD137 Blood Group--Ahonen 19 0.062
38
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.050
39
P RTN008 Retinitis Pigmentosa 77 0.050
40
c SPN225 Spondyloarthropathy 1 73 0.050
41
MSC157 Muscular Dystrophy, Duchenne Type 71 0.050
42
P LKM062 Leukemia, Acute Lymphoblastic 68 0.050
43
P ANG001 Angelman Syndrome 67 0.050
44
AND002 Androgen Insensitivity Syndrome 66 0.050
45
BRR014 Barrett Esophagus 64 0.050
46
NRM005 Neuromuscular Disease 63 0.050
47
c BRN108 Branchiootic Syndrome 1 61 0.050
48
P CNT110 Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a 60 0.050
49
P WRD001 Waardenburg's Syndrome 59 0.050
50
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.050
51
P SZR006 Seizure Disorder 58 0.050
52
P AXN002 Axenfeld-Rieger Syndrome 58 0.050
53
VSL002 Visual Epilepsy 58 0.050
54
P DRR001 Diarrhea 57 0.050
55
c WRD030 Waardenburg Syndrome, Type 1 56 0.050
56
P LYM031 Lymphocytic Leukemia 55 0.050
57
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 54 0.050
58
MYP139 Myopathy, Proximal, and Ophthalmoplegia 53 0.050
59
SNS003 Sensory Peripheral Neuropathy 53 0.050
60
c PRM092 Primary Lateral Sclerosis, Adult, 1 52 0.050
61
HLX001 Helix Syndrome 47 0.050
62
c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 47 0.050
63
RTN023 Retinitis 46 0.050
64
c CHR420 Charcot-Marie-Tooth Disease, Type 4j 46 0.050
65
P HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 45 0.050
66
c WRD031 Waardenburg Syndrome, Type 3 45 0.050
67
c WRD032 Waardenburg Syndrome, Type 2a 45 0.050
68
ATX038 Ataxia and Polyneuropathy, Adult-Onset 44 0.050
69
NRR001 Neuroretinitis 43 0.050
70
P AMY106 Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia 43 0.050
71
c AMY090 Amyotrophic Lateral Sclerosis 8 42 0.050
72
c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 39 0.050
73
c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 38 0.050
74
P AXN001 Axonal Neuropathy 36 0.050
75
c AMY055 Amyotrophic Lateral Sclerosis 17 36 0.050
76
c AMY083 Amyotrophic Lateral Sclerosis 11 36 0.050
77
ALR002 Al-Raqad Syndrome 34 0.050
78
c AMY085 Amyotrophic Lateral Sclerosis 9 34 0.050
79
NRN002 Neuronitis 33 0.050
80
c AMY022 Amyotrophic Lateral Sclerosis Type 5 32 0.050
81
NRP049 Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux 32 0.050
82
c BLD140 Blood Group, I System 30 0.050
83
c WRD029 Waardenburg Syndrome, Type 2b 29 0.050
84
MYC088 Mycobacterium Avium Complex Infections 29 0.050
85
c AMY023 Amyotrophic Lateral Sclerosis Type 6 29 0.050
86
c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 25 0.050
87
AND005 Androgen Insensitivity Syndrome, Mild 22 0.050
88
OBS524 Obsolete: Benign Exophthalmos Syndrome 15 0.050
89
ESP021 Esophageal Cancer 90 0.036
90
P ATX030 Ataxia-Telangiectasia 83 0.036
91
P EPL164 Epilepsy 71 0.036
92
HMN044 Human Immunodeficiency Virus Type 1 71 0.036
93
c HPT073 Hepatitis C Virus 70 0.036
94
CNT097 Central Hypoventilation Syndrome, Congenital 70 0.036
95
WRN001 Werner Syndrome 69 0.036
96
CRB037 Cerebral Palsy 68 0.036
97
SKN019 Skin Melanoma 67 0.036
98
P LBR001 Leber Congenital Amaurosis 67 0.036
99
c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 66 0.036
100
ART001 Arterial Tortuosity Syndrome 66 0.036
101
P NRV007 Nervous System Disease 66 0.036
102
c HRD010 Hereditary Spastic Paraplegia 66 0.036
103
P ACR001 Aicardi-Goutieres Syndrome 65 0.036
104
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 65 0.036
105
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 0.036
106
P HRS035 Hirschsprung Disease 1 65 0.036
107
P DYS154 Dystonia 65 0.036
108
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.036
109
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 65 0.036
110
P PRS038 Personality Disorder 65 0.036
111
P VNW001 Von Willebrand's Disease 64 0.036
112
P MTR014 Motor Neuron Disease 64 0.036
113
NRF007 Neurofibroma 64 0.036
114
P KLL001 Kallmann Syndrome 64 0.036
115
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64 0.036
116
P SPN046 Spinal Muscular Atrophy 64 0.036
117
c MLN065 Melanocytic Nevus Syndrome, Congenital 63 0.036
118
PPL049 Papillon-Lefevre Syndrome 63 0.036
119
P BCK002 Beckwith-Wiedemann Syndrome 62 0.036
120
P PSR002 Psoriasis 62 0.036
121
WLL001 Williams-Beuren Syndrome 62 0.036
122
MSS001 Masa Syndrome 62 0.036
123
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 61 0.036
124
P NRP063 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 61 0.036
125
P MVM001 Movement Disease 61 0.036
126
NTR005 Nutritional Deficiency Disease 61 0.036
127
ALX003 Alexander Disease 61 0.036
128
P ENC018 Encephalopathy 61 0.036
129
P SNS001 Sensorineural Hearing Loss 61 0.036
130
PND002 Pendred Syndrome 60 0.036
131
MCR013 Microphthalmia 60 0.036
132
ACQ007 Acquired Immunodeficiency Syndrome 60 0.036
133
PBL005 Piebald Trait 59 0.036
134
NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 59 0.036
135
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 59 0.036
136
TTZ003 Tietz Albinism-Deafness Syndrome 58 0.036
137
P CNT004 Centronuclear Myopathy 58 0.036
138
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 0.036
139
P DST002 Distal Arthrogryposis 58 0.036
140
P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 58 0.036
141
EYD002 Eye Disease 58 0.036
142
P MCR010 Microcephaly 58 0.036
143
P BCL017 B-Cell Lymphoma 58 0.036
144
c PTT056 Pituitary Adenoma 1, Multiple Types 58 0.036
145
c DWL002 Dowling-Degos Disease 1 58 0.036
146
LGS001 Legius Syndrome 57 0.036
147
SJG002 Sjogren-Larsson Syndrome 57 0.036
148
P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 57 0.036
149
P CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 56 0.036
150
c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 56 0.036
151
WLF002 Wolf-Hirschhorn Syndrome 56 0.036
152
P DYS193 Dystonia 11, Myoclonic 56 0.036
153
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56 0.036
154
AGN016 Aging 56 0.036
155
c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 56 0.036
156
c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56 0.036
157
c INT072 Intestinal Pseudo-Obstruction 56 0.036
158
P PLY019 Polyneuropathy 56 0.036
159
c SPS153 Spastic Paraplegia 35, Autosomal Recessive 56 0.036
160
c SVR001 Severe Acute Respiratory Syndrome 55 0.036
161
HYP691 Hypomelanosis of Ito 55 0.036
162
P ALP106 Alport Syndrome 1, X-Linked 55 0.036
163
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 55 0.036
164
DBT010 Diabetic Neuropathy 55 0.036
165
c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55 0.036
166
PRR007 Perry Syndrome 54 0.036
167
CHR629 Charcot-Marie-Tooth Disease and Deafness 54 0.036
168
PRP016 Paraplegia 53 0.036
169
P LTR001 Lateral Sclerosis 53 0.036
170
P TRM003 Tremor 53 0.036
171
P HYP730 Hypogonadotropic Hypogonadism 53 0.036
172
PRG009 Progressive Multifocal Leukoencephalopathy 53 0.036
173
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 52 0.036
174
P HML001 Hemolytic-Uremic Syndrome 52 0.036
175
CHR073 Choreatic Disease 52 0.036
176
P ACT008 Actinic Keratosis 52 0.036
177
P MSC003 Muscular Atrophy 52 0.036
178
c ACR116 Aicardi-Goutieres Syndrome 1 51 0.036
179
MYP136 Myopathy, Centronuclear, X-Linked 51 0.036
180
P GNT009 Giant Axonal Neuropathy 51 0.036
181
HYP186 Hypertrophic Neuropathy of Dejerine-Sottas 51 0.036
182
P HYP077 Hypertrichosis 50 0.036
183
SPS003 Spastic Diplegia 50 0.036
184
DYS073 Dysphagia 50 0.036
185
c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 50 0.036
186
HYP080 Hypogonadism 50 0.036
187
PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 50 0.036
188
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 50 0.036
189
c CHR516 Charcot-Marie-Tooth Disease, Type 4c 50 0.036
190
P OCL001 Ocular Albinism 49 0.036
191
c GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 48 0.036
192
QDR001 Quadriplegia 48 0.036
193
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 48 0.036
194
P SPS133 Spastic Paraplegia 2, X-Linked 48 0.036
195
c CHR517 Charcot-Marie-Tooth Disease, Type 4a 48 0.036
196
c PNT049 Pontocerebellar Hypoplasia, Type 2d 48 0.036
197
RSS026 Roussy-Levy Hereditary Areflexic Dystasia 48 0.036
198
c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 47 0.036
199
LNG015 Lingual-Facial-Buccal Dyskinesia 47 0.036
200
c SPS148 Spastic Paraplegia 31, Autosomal Dominant 47 0.036
201
ATN005 Autonomic Dysfunction 47 0.036
202
P HRD021 Hereditary Sensory Neuropathy 47 0.036
203
c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 47 0.036
204
c SPS098 Spastic Paraplegia 30, Autosomal Recessive 47 0.036
205
c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 47 0.036
206
c WRD019 Waardenburg Syndrome, Type 4b 47 0.036
207
c WRD020 Waardenburg Syndrome, Type 4a 47 0.036
208
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 47 0.036
209
P PNT019 Pontocerebellar Hypoplasia 46 0.036
210
MGC001 Megacolon 46 0.036
211
ALB002 Albinism 46 0.036
212
c SPS117 Spastic Paraplegia 10, Autosomal Dominant 46 0.036
213
P MYC033 Myoclonus 46 0.036
214
LCK001 Locked-in Syndrome 46 0.036
215
INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 46 0.036
216
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 46 0.036
217
c SPS127 Spastic Paraplegia 6, Autosomal Dominant 45 0.036
218
c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 45 0.036
219
c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 45 0.036
220
GLD006 Goldberg-Shprintzen Syndrome 45 0.036
221
c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 45 0.036
222
P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 45 0.036
223
c SPS149 Spastic Paraplegia 8, Autosomal Dominant 45 0.036
224
c WRD024 Waardenburg Syndrome, Type 4c 45 0.036
225
ATN004 Autonomic Neuropathy 44 0.036
226
c CHR421 Charcot-Marie-Tooth Disease, Type 4h 44 0.036
227
c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 44 0.036
228
c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 44 0.036
229
c PNT036 Pontocerebellar Hypoplasia, Type 6 44 0.036
230
c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 44 0.036
231
c PCH010 Pachyonychia Congenita 3 43 0.036
232
c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 43 0.036
233
c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 43 0.036
234
c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 43 0.036
235
ALK024 Alkuraya-Kucinskas Syndrome 43 0.036
236
c SPS071 Spastic Paraplegia 48, Autosomal Recessive 43 0.036
237
c SPS219 Spastic Paraplegia 17, Autosomal Dominant 43 0.036
238
c CHR376 Charcot-Marie-Tooth Disease, Type 4d 43 0.036
239
c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 43 0.036
240
c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 42 0.036
241
c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 42 0.036
242
c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 42 0.036
243
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 42 0.036
244
c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 42 0.036
245
SPS004 Spastic Quadriplegia 42 0.036
246
CHR557 Chronic Intestinal Pseudoobstruction 42 0.036
247
c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 42 0.036
248
ANC002 Anca-Associated Vasculitis 42 0.036
249
ANX004 Anoxia 42 0.036
250
c SPS116 Spastic Paraplegia 26, Autosomal Recessive 42 0.036
251
c SPS109 Spastic Paraplegia 46, Autosomal Recessive 42 0.036
252
c SPS106 Spastic Paraplegia 54, Autosomal Recessive 42 0.036
253
c SPS124 Spastic Paraplegia 28, Autosomal Recessive 41 0.036
254
c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 41 0.036
255
c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 41 0.036
256
c PNT044 Pontocerebellar Hypoplasia, Type 2a 41 0.036
257
c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 41 0.036
258
PHS023 Phosphoserine Aminotransferase Deficiency 41 0.036
259
c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 41 0.036
260
c SPS131 Spastic Paraplegia 12, Autosomal Dominant 41 0.036
261
c SPS129 Spastic Paraplegia 39, Autosomal Recessive 41 0.036
262
CLD014 Cole Disease 41 0.036
263
c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 41 0.036
264
P DMY001 Demyelinating Polyneuropathy 41 0.036
265
MST006 Mast Syndrome 41 0.036
266
RDN001 Reading Disorder 40 0.036
267
PSD001 Pseudobulbar Palsy 40 0.036
268
c PNT043 Pontocerebellar Hypoplasia, Type 4 40 0.036
269
P WRB001 Warburg Micro Syndrome 40 0.036
270
HYP064 Hypogonadotropism 40 0.036
271
CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy 40 0.036
272
c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 40 0.036
273
c SPS122 Spastic Paraplegia 52, Autosomal Recessive 40 0.036
274
c SPS137 Spastic Paraplegia 57, Autosomal Recessive 40 0.036
275
c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 40 0.036
276
c SPS101 Spastic Paraplegia 56, Autosomal Recessive 40 0.036
277
MLG005 Malignant Spindle Cell Melanoma 40 0.036
278
c USH044 Usher Syndrome, Type Iiib 40 0.036
279
MTR007 Motor Peripheral Neuropathy 40 0.036
280
c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 40 0.036
281
c SPS099 Spastic Paraplegia 42, Autosomal Dominant 40 0.036
282
c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 40 0.036
283
SPS019 Spastic Paraparesis 40 0.036
284
c SPS096 Spastic Paraplegia 44, Autosomal Recessive 39 0.036
285
CHL010 Childhood Kidney Cell Carcinoma 39 0.036
286
c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 39 0.036
287
c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 39 0.036
288
c CHR653 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 39 0.036
289
MNN017 Mononeuropathy 39 0.036
290
c SPS130 Spastic Paraplegia 43, Autosomal Recessive 39 0.036
291
c NRP029 Neuropathy, Hereditary Sensory, Type Iic 39 0.036
292
c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 39 0.036
293
NRV004 Nerve Compression Syndrome 38 0.036
294
c SPS107 Spastic Paraplegia 18, Autosomal Recessive 38 0.036
295
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 38 0.036
296
P CRB088 Cerebral Atrophy 38 0.036
297
P PHS005 Peho Syndrome 38 0.036
298
c SPS206 Spastic Paraplegia 77, Autosomal Recessive 37 0.036
299
OCH001 Ochronosis 37 0.036
300
c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 37 0.036
301
c HRD088 Hereditary Neuropathies 37 0.036
302
NRG003 Neurogenic Arthropathy 37 0.036
303
c SPN326 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 37 0.036
304
c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 37 0.036
305
c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 37 0.036
306
c WRD022 Waardenburg Syndrome, Type 2d 36 0.036
307
c SPS157 Spastic Paraplegia 64, Autosomal Recessive 36 0.036
308
c NRN037 Neuronopathy, Distal Hereditary Motor, Type Va 36 0.036
309
CRB009 Cerebritis 36 0.036
310
c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 36 0.036
311
c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 36 0.036
312
c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 35 0.036
313
c SPS113 Spastic Paraplegia 33, Autosomal Dominant 35 0.036
314
c SPS123 Spastic Paraplegia 32, Autosomal Recessive 35 0.036
315
c AMY062 Amyotrophic Lateral Sclerosis 12 35 0.036
316
c SPS228 Spastic Paraplegia 63, Autosomal Recessive 35 0.036
317
GLC105 Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency 35 0.036
318
CHR178 Chromosomal Triplication 35 0.036
319
c AMY059 Amyotrophic Lateral Sclerosis 19 34 0.036
320
NRP010 Neuropathy, Hereditary Motor and Sensory, Russe Type 34 0.036
321
TLC001 Telecanthus 34 0.036
322
MLN070 Melanoma-Astrocytoma Syndrome 34 0.036
323
c WRD026 Waardenburg Syndrome, Type 2c 34 0.036
325
PRG007 Progressive Bulbar Palsy 33 0.036
326
c AMY067 Amyotrophic Lateral Sclerosis 18 33 0.036
327
c PLM127 Pulmonary Hypertension, Primary, 3 33 0.036
328
P DST101 Distal Hereditary Motor Neuropathies 32 0.036
329
c CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 32 0.036
330
DYS001 Dyskinetic Cerebral Palsy 32 0.036
331
c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 32 0.036
332
c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 31 0.036
333
c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 31 0.036
334
c SPS110 Spastic Paraplegia 19, Autosomal Dominant 31 0.036
335
PLY150 Polykaryocytosis Inducer 31 0.036
336
c SPS068 Spastic Paraplegia 14, Autosomal Recessive 30 0.036
337
MTR087 Maternal Uniparental Disomy 30 0.036
338
c SPS198 Spastic Paraplegia 16, X-Linked 30 0.036
339
c PNT046 Pontocerebellar Hypoplasia, Type 5 30 0.036
340
NRP009 Neuropathy, Hereditary Motor and Sensory, Okinawa Type 30 0.036
341
HLN001 Halo Nevi 30 0.036
342
c WRD010 Waardenburg Syndrome Type 4 29 0.036
343
MTY003 Mutyh Polyposis 29 0.036
344
DLT018 Dilution, Pigmentary 29 0.036
345
GLL012 Gallbladder Melanoma 29 0.036
346
c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 28 0.036
347
c CHR699 Charcot-Marie-Tooth Disease Type 2a2a 28 0.036
348
c ATS390 Autosomal Dominant Non-Syndromic Intellectual Disability 9 28 0.036
349
SCT001 Sciatic Neuropathy 28 0.036
350
c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 28 0.036
351
c PLM121 Pulmonary Hypertension, Primary, 4 28 0.036
352
P PPL023 Pupil Disease 27 0.036
353
c AMY089 Amyotrophic Lateral Sclerosis 7 27 0.036
354
c ERL012 Early-Onset Glaucoma 27 0.036
355
LSN001 Lesion of Sciatic Nerve 26 0.036
356
CCH001 Cochlear Disease 26 0.036
357
GLB011 Glioblastoma Classical Subtype 26 0.036
358
P ATS426 Autosomal Dominant Distal Hereditary Motor Neuronopathy 26 0.036
359
c CHR026 Charcot-Marie-Tooth Disease Type X 25 0.036
360
c SPS092 Spastic Paraplegia 11 25 0.036
361
MLG061 Malignant Choroid Melanoma 25 0.036
362
c DST106 Distal Hereditary Motor Neuronopathy Type 2 25 0.036
363
c AMY079 Amyotrophic Lateral Sclerosis Type 15 25 0.036
364
HYP213 Hypomelanotic Disorder 24 0.036
365
GNT018 Gianotti Crosti Syndrome 24 0.036
366
c HRD188 Hereditary Spastic Paraplegia 72 24 0.036
367
c CHR135 Charcot-Marie-Tooth Disease Type 2a 24 0.036
368
EPT001 Epithelioid Cell Melanoma 23 0.036
369
c CHR115 Charcot-Marie-Tooth Neuropathy Type 2a 23 0.036
370
P OCL062 Ocular Albinism with Congenital Sensorineural Deafness 23 0.036
371
EXF002 Exfoliative Ichthyosis 22 0.036
372
LTR005 Lateral Displacement of Eye 22 0.036
373
GNT176 Genetic Motor Neuron Disease 22 0.036
374
ARG003 Argyll Robertson Pupil 22 0.036
375
HTR005 Heterochromia Iridis 22 0.036
376
c AMY074 Amyotrophic Lateral Sclerosis Type 14 21 0.036
377
c HRD210 Hereditary Spastic Paraplegia 23 21 0.036
378
c CHR697 Charcot-Marie-Tooth Disease X-Linked Recessive 4 21 0.036
379
MNN015 Mononeuritis of Lower Limb 20 0.036
381
c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 19 0.036
382
SPN423 Spinal Muscular Atrophy with Lower Extremity Predominance 18 0.036
383
c ATS452 Autosomal Recessive Axonal Hereditary Motor and Sensory Neuropathy 18 0.036
384
ASY004 Asymmetric Motor Neuropathy 18 0.036
385
c MTR062 Maternal Uniparental Disomy of Chromosome 4 17 0.036
386
ABN004 Abnormal Pupillary Function 16 0.036
387
c AXN013 Axonal Hereditary Motor and Sensory Neuropathy 13 0.036
388
GRS015 Gars1-Associated Axonal Neuropathy 11 0.036
Content
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