Search results for Creatine

725 hits were found for Creatine

# Family MCID Name MIFTS Score
1
CRB151 Cerebral Creatine Deficiency Syndrome 1 50 10.968
2
CRB150 Cerebral Creatine Deficiency Syndrome 2 45 5.728
3
CRB148 Cerebral Creatine Deficiency Syndrome 3 38 5.690
4
CRT045 Creatine Phosphokinase, Elevated Serum 29 4.244
5
CRT055 Creatine Deficiency Syndromes 25 3.932
6
CRB137 Cerebral Creatine Deficiency Syndrome 20 3.769
7
ISL077 Isolated Hyperckemia 23 3.013
8
LRG010 L-Arginine:glycine Amidinotransferase Deficiency 12 2.176
9
CRT047 Creatine Kinase, Brain Type, Ectopic Expression of 7 2.153
10
ISL053 Isolated Asymptomatic Elevation of Creatine Phosphokinase 4 2.139
11
P MYC007 Myocardial Infarction 81 0.265
12
c ACT075 Acute Myocardial Infarction 64 0.221
13
P MYP004 Myopathy 69 0.157
14
MNT002 Mental Depression 60 0.153
15
CRB009 Cerebritis 41 0.153
16
P MSC005 Muscular Dystrophy 66 0.146
17
MDD011 Mood Disorder 64 0.131
18
NRM005 Neuromuscular Disease 60 0.123
19
NRN002 Neuronitis 43 0.120
20
P MJR001 Major Depressive Disorder 70 0.117
21
c AMY091 Amyotrophic Lateral Sclerosis 1 87 0.114
22
P LTR001 Lateral Sclerosis 58 0.114
23
MSC033 Muscle Disorders 53 0.114
24
MVM001 Movement Disease 40 0.114
25
AGN016 Aging 65 0.108
26
P ENC018 Encephalopathy 58 0.108
27
BSL008 Basal Ganglia Disease 44 0.108
28
MTB007 Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 39 0.105
29
MSC157 Muscular Dystrophy, Duchenne Type 74 0.102
30
PSY004 Psychotic Disorder 72 0.102
31
MSC004 Muscle Tissue Disease 39 0.102
32
P HNT016 Huntington Disease 78 0.098
33
ISC004 Ischemia 66 0.098
34
MSC152 Muscular Dystrophy, Becker Type 64 0.098
35
MTR014 Motor Neuron Disease 62 0.098
36
DMN002 Dementia 68 0.095
37
P PLY041 Polymyositis 57 0.095
38
ECT026 Ectopic Pregnancy 52 0.095
39
c CNT035 Central Nervous System Disease 65 0.091
40
SPN041 Spinal Cord Disease 54 0.091
41
c MTR002 Mitral Valve Insufficiency 46 0.087
42
c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 63 0.083
43
HYP266 Hypoxia 61 0.083
44
P MSC003 Muscular Atrophy 55 0.083
45
P NRV007 Nervous System Disease 75 0.079
46
P DRM010 Dermatomyositis 65 0.079
47
AMN002 Amino Acid Metabolic Disorder 38 0.079
48
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.079
49
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.079
50
P HRT032 Heart Disease 80 0.074
51
ANX010 Anxiety 72 0.074
52
P ATS364 Autism 70 0.074
53
P MLG056 Malignant Hyperthermia 60 0.074
54
P FCS012 Facioscapulohumeral Muscular Dystrophy 1 56 0.074
55
NRL004 Neuroleptic Malignant Syndrome 44 0.074
56
P PRK057 Parkinson Disease, Late-Onset 78 0.069
57
P EPL164 Epilepsy 70 0.069
58
P MYS005 Myositis 63 0.069
59
RHM027 Rheumatic Disease 62 0.069
60
P BPL003 Bipolar Disorder 61 0.069
61
CHL028 Childhood Type Dermatomyositis 55 0.069
62
P MYT002 Myotonic Dystrophy 50 0.069
63
MSC012 Muscular Dystrophy, Duchenne and Becker Type 35 0.069
64
P BRS047 Breast Cancer 100 0.064
65
P ALZ034 Alzheimer Disease 95 0.064
66
P ART022 Arthritis 77 0.064
67
P SCH015 Schizophrenia 71 0.064
68
ART140 Arteries, Anomalies of 51 0.064
69
ANX004 Anoxia 49 0.064
70
MCL009 Mcleod Syndrome 45 0.064
71
CRN041 Carnitine-Acylcarnitine Translocase Deficiency 44 0.064
72
MYP104 Myopathy, Vacuolar, with Casq1 Aggregates 17 0.064
73
ATR076 Atrophic Muscular Disease 6 0.064
74
c SYS001 Systemic Lupus Erythematosus 86 0.059
75
P RTT002 Rett Syndrome 82 0.059
76
P DBT009 Diabetes Mellitus 72 0.059
77
P LPS004 Lupus Erythematosus 69 0.059
78
P CRN018 Coronary Artery Anomaly 69 0.059
79
P ART021 Arteriosclerosis 62 0.059
80
P HYP086 Hypothyroidism 62 0.059
81
P CRN300 Coronary Heart Disease 1 57 0.059
82
P CLL015 Collagen Disease 53 0.059
83
GYR004 Gyrate Atrophy of Choroid and Retina 51 0.059
84
MTC069 Mitochondrial Disorders 49 0.059
85
SYN036 Syncope 46 0.059
86
c CRD187 Cardiomyopathy, Dilated, 3b 46 0.059
87
MYT030 Myotonia, Potassium-Aggravated 39 0.059
88
P MRN003 Marinesco-Sjogren Syndrome 38 0.059
89
ENT004 Enthesopathy 38 0.059
90
c BLD140 Blood Group, I System 37 0.059
91
c LPD035 Lipodystrophy, Congenital Generalized, Type 4 36 0.059
92
PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 36 0.059
93
NNK001 Nonaka Myopathy 35 0.059
94
P ATS366 Autism X-Linked 2 34 0.059
95
c MYT029 Myotonia Congenita, Autosomal Recessive 32 0.059
96
DMT001 Dimethylglycine Dehydrogenase Deficiency 25 0.059
97
P LNG032 Lung Cancer 99 0.052
98
OST012 Osteoarthritis 88 0.052
99
ULC004 Ulcerative Colitis 80 0.052
100
P OST002 Osteoporosis 75 0.052
101
CNG034 Congestive Heart Failure 74 0.052
102
ISC006 Ischemic Heart Disease 73 0.052
103
VSC007 Vascular Disease 71 0.052
104
P KDN018 Kidney Disease 69 0.052
105
P ART023 Arthropathy 68 0.052
106
SPN186 Spinal Cord Injury 67 0.052
107
GST050 Gastrointestinal System Disease 66 0.052
108
CNN005 Connective Tissue Disease 65 0.052
109
c GLY008 Glycogen Storage Disease Ii 64 0.052
110
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.052
111
CLT003 Colitis 63 0.052
112
CRD119 Cardiac Arrest 63 0.052
113
JNT002 Joint Disorders 60 0.052
114
P INF032 Infertility 59 0.052
115
c MSC113 Muscular Dystrophy, Limb-Girdle, Type 2b 59 0.052
116
MSC165 Muscular Dystrophy, Congenital, Lmna-Related 59 0.052
117
URN009 Urinary System Disease 58 0.052
118
c EPS042 Episodic Ataxia, Type 1 57 0.052
119
c GLY004 Glycogen Storage Disease V 55 0.052
120
P TRM003 Tremor 54 0.052
121
P ULL002 Ullrich Congenital Muscular Dystrophy 1 52 0.052
122
c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 52 0.052
123
P CMP008 Compartment Syndrome 48 0.052
124
CHR008 Choroiditis 47 0.052
125
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 47 0.052
126
CHR105 Choreoacanthocytosis 46 0.052
127
ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 39 0.052
128
MLG086 Malignant Hyperthermia Susceptibility 38 0.052
129
c CNG379 Congenital Disorder of Glycosylation, Type It 34 0.052
130
RTN072 Retinohepatoendocrinologic Syndrome 34 0.052
131
c CNG207 Congenital Disorder of Glycosylation, Type Io 29 0.052
132
MTC059 Mitochondrial Dna Depletion Syndrome 5 28 0.052
133
CRN294 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 24 0.052
134
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.052
135
INB001 Inborn Amino Acid Metabolism Disorder 16 0.052
136
AMN012 Aminoacidopathies 15 0.052
137
P RHM011 Rheumatoid Arthritis 91 0.045
138
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89 0.045
139
AST005 Asthma 83 0.045
140
P HPT021 Hepatitis 75 0.045
141
GLB002 Glioblastoma 74 0.045
142
P NRB001 Neuroblastoma 73 0.045
143
P MNN013 Meningitis 71 0.045
144
P OST001 Osteopetrosis 70 0.045
145
P ANR048 Aniridia 1 68 0.045
146
P CHR071 Charcot-Marie-Tooth Disease 67 0.045
147
ATM095 Autoimmune Disease 66 0.045
148
GST045 Gastroenteritis 65 0.045
149
P INT068 Intestinal Disease 65 0.045
150
P HYP061 Hypertrophic Cardiomyopathy 65 0.045
151
INC002 Inclusion Body Myositis 64 0.045
152
P PNC044 Pancreatitis 64 0.045
153
P ANG001 Angelman Syndrome 61 0.045
154
MCS002 Mucositis 61 0.045
155
P RHB003 Rhabdomyosarcoma 61 0.045
156
c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60 0.045
157
P HYP370 Hypokalemic Periodic Paralysis, Type 1 59 0.045
158
ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 59 0.045
159
P SBS003 Substance Abuse 57 0.045
160
IMM136 Immune System Disease 57 0.045
161
MSC007 Muscle Hypertrophy 57 0.045
162
c MYT020 Myotonic Dystrophy 2 56 0.045
163
BNF002 Bone Fracture 56 0.045
164
CLN019 Colonic Disease 55 0.045
165
CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 55 0.045
166
P SZR006 Seizure Disorder 55 0.045
167
BRN071 Brain Injury 54 0.045
168
c ACT071 Acute Kidney Failure 54 0.045
169
ANG054 Angina Pectoris 53 0.045
170
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.045
171
P INF037 Inflammatory Bowel Disease 52 0.045
172
DRG003 Drug Dependence 51 0.045
173
MSC162 Muscular Dystrophy, Congenital Merosin-Deficient, 1a 51 0.045
174
IDP024 Idiopathic Inflammatory Myopathy 49 0.045
175
OCL008 Oculopharyngeal Muscular Dystrophy 49 0.045
176
PLC008 Placenta Disease 48 0.045
177
P MYS033 Miyoshi Muscular Dystrophy 1 48 0.045
178
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 47 0.045
179
HRT012 Heart Valve Disease 45 0.045
180
MYP100 Myopathy, X-Linked, with Excessive Autophagy 44 0.045
181
c CHR095 Chronic Progressive External Ophthalmoplegia 44 0.045
182
c MSC116 Muscular Dystrophy, Limb-Girdle, Type 2f 44 0.045
183
c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 43 0.045
184
c MSC119 Muscular Dystrophy, Limb-Girdle, Type 2h 43 0.045
185
FCL041 Focal Myositis 42 0.045
186
c ADL027 Adult Dermatomyositis 41 0.045
187
PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 40 0.045
188
c CNG206 Congenital Disorder of Glycosylation, Type Ie 40 0.045
189
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.045
190
c MSC122 Muscular Dystrophy, Limb-Girdle, Type 2g 37 0.045
191
c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 36 0.045
192
PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 36 0.045
193
c MSC063 Muscular Dystrophy, Limb-Girdle, Type 2j 36 0.045
194
FNT004 Fainting 36 0.045
195
PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 35 0.045
196
NTR007 Neutral Lipid Storage Disease with Myopathy 35 0.045
197
c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 35 0.045
198
CHR387 Chromosome Xp21 Deletion Syndrome 35 0.045
199
PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 35 0.045
200
c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 33 0.045
201
c MYP125 Myopathy, Distal, 1 31 0.045
202
c MSC136 Muscular Dystrophy, Limb-Girdle, Type 2w 31 0.045
203
OCL063 Oculopharyngodistal Myopathy 31 0.045
204
c GLY057 Glycogen Storage Disease X 30 0.045
205
c MYP080 Myopathy, Myofibrillar, 4 30 0.045
206
c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 26 0.045
207
HYP657 Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency 26 0.045
208
c LMB047 Limb-Girdle Muscular Dystrophy, Type 1g 26 0.045
209
c LPD036 Lipodystrophy, Familial Partial, Type 6 25 0.045
210
c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 24 0.045
211
c GLY059 Glycogen Storage Disease Xiii 22 0.045
212
c MYP118 Myopathy, Myofibrillar, 8 22 0.045
213
c MSC140 Muscular Dystrophy, Limb-Girdle, Type 2x 22 0.045
214
ANR038 Anorexia Nervosa 1 21 0.045
215
c MYS014 Miyoshi Muscular Dystrophy 3 21 0.045
216
HYP814 Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 21 0.045
217
c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 20 0.045
218
MYP086 Myopathy with Extrapyramidal Signs 20 0.045
219
c MSC137 Muscular Dystrophy, Limb-Girdle, Type 2z 19 0.045
220
ERY030 Erythrocyte Lactate Transporter Defect 18 0.045
221
BLD137 Blood Group--Ahonen 17 0.045
222
P HPT023 Hepatocellular Carcinoma 94 0.037
223
MLR004 Malaria 86 0.037
224
P MLT020 Multiple Sclerosis 85 0.037
225
P INF038 Influenza 77 0.037
226
c HPT001 Hepatitis C 73 0.037
227
c CHR089 Chronic Kidney Failure 72 0.037
228
BRC012 Brucellosis 71 0.037
229
CRZ001 Crouzon Syndrome 71 0.037
230
P PNM007 Pneumonia 70 0.037
231
P SPR120 Supranuclear Palsy, Progressive, 1 70 0.037
232
c ATS007 Autism Spectrum Disorder 68 0.037
233
SRC014 Sarcoma 68 0.037
234
P ATT013 Attention Deficit-Hyperactivity Disorder 67 0.037
235
CHR066 Chronic Fatigue Syndrome 67 0.037
236
c SML038 Small Cell Cancer of the Lung 67 0.037
237
BRT054 Brittle Bone Disorder 67 0.037
238
P MPL001 Maple Syrup Urine Disease 66 0.037
239
ACQ007 Acquired Immunodeficiency Syndrome 65 0.037
240
P THL005 Thalassemia 65 0.037
241
ACR006 Aceruloplasminemia 65 0.037
242
VRL011 Viral Infectious Disease 64 0.037
243
GNG013 Gingivitis 64 0.037
244
PLM031 Poliomyelitis 64 0.037
245
WLL001 Williams-Beuren Syndrome 63 0.037
246
P NRP001 Neuropathy 63 0.037
247
c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 63 0.037
248
P EXN002 Exanthem 62 0.037
249
c ACT027 Acute Pancreatitis 61 0.037
250
INT002 Intermittent Claudication 61 0.037
251
P GLM045 Glioma 61 0.037
252
WLK001 Walker-Warburg Syndrome 59 0.037
253
SPN404 Spinal and Bulbar Muscular Atrophy, X-Linked 1 59 0.037
254
END030 End Stage Renal Failure 59 0.037
255
LPD008 Lipid Metabolism Disorder 59 0.037
256
P PLY019 Polyneuropathy 58 0.037
257
P MYC008 Myocarditis 58 0.037
258
MVL001 Mevalonic Aciduria 57 0.037
259
THR100 Thrombocytopenic Purpura, Autoimmune 57 0.037
260
P MCR010 Microcephaly 57 0.037
261
c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 57 0.037
262
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 57 0.037
263
BRN106 Burns 57 0.037
264
P LRY019 Laryngitis 57 0.037
265
c RHB024 Rhabdomyosarcoma 2 56 0.037
266
c GLY003 Glycogen Storage Disease Iii 56 0.037
267
P MYP006 Myopia 56 0.037
268
P DNT020 Dent Disease 1 55 0.037
269
P LMB006 Limb-Girdle Muscular Dystrophy 55 0.037
270
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 55 0.037
271
INT007 Intermediate Coronary Syndrome 55 0.037
272
TRM010 Traumatic Brain Injury 54 0.037
273
TTH006 Tooth Disease 54 0.037
274
P THY054 Thyrotoxic Periodic Paralysis 54 0.037
275
SCH068 Schwartz-Jampel Syndrome, Type 1 54 0.037
276
PRP080 Peripheral Artery Disease 54 0.037
277
P EMR001 Emery-Dreifuss Muscular Dystrophy 53 0.037
278
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 53 0.037
279
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 53 0.037
280
GNR004 Generalized Anxiety Disorder 53 0.037
281
MLN007 Male Infertility 53 0.037
282
c MSC120 Muscular Dystrophy, Limb-Girdle, Type 2c 53 0.037
283
c PNS012 Paine Syndrome 52 0.037
284
P BTH005 Bethlem Myopathy 1 52 0.037
285
URM002 Uremia 52 0.037
286
RTN023 Retinitis 52 0.037
287
HPT082 Hepatic Adenomas, Familial 52 0.037
288
VRC001 Varicocele 52 0.037
289
MSC077 Muscle Eye Brain Disease 51 0.037
290
P HMC002 Homocystinuria 50 0.037
291
c BPL002 Bipolar I Disorder 50 0.037
292
STR081 Stormorken Syndrome 49 0.037
293
c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49 0.037
294
P MYP087 Myopathy, Tubular Aggregate, 1 48 0.037
295
HDN002 Head Injury 48 0.037
296
GLY014 Glycerol Kinase Deficiency 47 0.037
297
DNN001 Danon Disease 47 0.037
298
c MSC123 Muscular Dystrophy, Limb-Girdle, Type 2d 47 0.037
299
CRN295 Carnitine Palmitoyltransferase I Deficiency 46 0.037
300
PLC001 Placenta Accreta 46 0.037
301
ANT039 Antisynthetase Syndrome 46 0.037
302
EPD070 Epidermoid Cysts 46 0.037
303
CRN031 Cranial Nerve Disease 45 0.037
304
c MSC050 Muscular Dystrophy, Congenital, 1b 45 0.037
305
TRC023 Trichinosis 45 0.037
306
MYX004 Myxedema 44 0.037
307
MYF002 Myofascial Pain Syndrome 44 0.037
308
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 43 0.037
309
P RPP006 Rippling Muscle Disease 2 42 0.037
310
MYT011 Myotonia 41 0.037
311
OST097 Osteoporotic Fracture 41 0.037
312
FML036 Familial Periodic Paralysis 41 0.037
313
c MSC117 Muscular Dystrophy, Limb-Girdle, Type 1e 41 0.037
314
P CHR084 Chromosomal Disease 40 0.037
315
SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 40 0.037
316
c GLY098 Glycogen Storage Disease, Type Ixd 40 0.037
317
STR015 Stereotypic Movement Disorder 40 0.037
318
c ATM022 Autoimmune Myocarditis 40 0.037
319
MYP094 Myopathy, Spheroid Body 40 0.037
320
c MYS078 Myasthenic Syndrome, Congenital, 14 40 0.037
321
c MSC112 Muscular Dystrophy, Limb-Girdle, Type 1b 40 0.037
322
SPC010 Speech and Communication Disorders 40 0.037
323
c MSC115 Muscular Dystrophy, Limb-Girdle, Type 1a 40 0.037
324
MSC028 Muscular Dystrophy, Congenital, Megaconial Type 40 0.037
325
c AMY069 Amyotrophic Lateral Sclerosis 21 39 0.037
326
c MSC059 Muscular Dystrophy, Limb-Girdle, Type 2l 39 0.037
327
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.037
328
c MYP082 Myopathy, Myofibrillar, 2 38 0.037
329
c MYS052 Myasthenic Syndrome, Congenital, 10 38 0.037
330
P MYG005 Myoglobinuria 37 0.037
331
c NRD014 Neurodegeneration with Brain Iron Accumulation 4 37 0.037
332
c MYP078 Myopathy, Myofibrillar, 3 36 0.037
333
c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 36 0.037
334
CWC001 Cowchock Syndrome 36 0.037
335
c MSC161 Muscular Dystrophy, Limb-Girdle, Type 1c 36 0.037
336
FML304 Familial Isolated Dilated Cardiomyopathy 36 0.037
337
c MYP079 Myopathy, Myofibrillar, 5 34 0.037
338
c NML004 Nemaline Myopathy 3 34 0.037
339
c TRC078 Trichohepatoenteric Syndrome 2 34 0.037
340
AXL003 Axial Osteomalacia 33 0.037
341
c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 33 0.037
342
c ACT072 Acute Laryngitis 33 0.037
343
PLC009 Placenta Praevia 33 0.037
344
c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 32 0.037
345
RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 32 0.037
346
STY001 Satoyoshi Syndrome 32 0.037
347
SCP009 Scapuloperoneal Myopathy, X-Linked Dominant 32 0.037
348
NRM016 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 31 0.037
349
c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 31 0.037
350
OCL011 Ocular Motility Disease 31 0.037
351
c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 31 0.037
352
c MSC062 Muscular Dystrophy, Limb-Girdle, Type 2q 31 0.037
353
c PRN053 Porencephaly 1 30 0.037
354
c FCS011 Facioscapulohumeral Muscular Dystrophy 2 30 0.037
355
WLN001 Welander Distal Myopathy 30 0.037
356
LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 30 0.037
357
MYP097 Myopathy with Lactic Acidosis, Hereditary 30 0.037
358
INC029 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 29 0.037
359
PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 29 0.037
360
c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29 0.037
361
c PRK071 Parkinson Disease 14, Autosomal Recessive 29 0.037
362
DRG013 Drug-Induced Lupus Erythematosus 29 0.037
363
c EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 29 0.037
364
c NML003 Nemaline Myopathy 2 29 0.037
365
c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28 0.037
366
c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 28 0.037
367
PRL013 Paralytic Poliomyelitis 28 0.037
368
c MYP106 Myopathy, Myosin Storage, Autosomal Recessive 28 0.037
369
c CNG383 Congenital Disorder of Glycosylation, Type Iik 28 0.037
370
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27 0.037
371
c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27 0.037
372
c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 27 0.037
373
c CNG187 Congenital Disorder of Glycosylation, Type Iid 27 0.037
374
c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 27 0.037
375
c CNG497 Congenital Disorder of Glycosylation, Type Iio 26 0.037
376
c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26 0.037
377
SLH001 Salih Myopathy 26 0.037
378
c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 26 0.037
379
c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 26 0.037
380
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 26 0.037
381
MYP071 Myopathy Due to Myoadenylate Deaminase Deficiency 26 0.037
382
c MYP081 Myopathy, Myofibrillar, 6 26 0.037
383
c DNT021 Dent Disease 2 26 0.037
384
c LTH027 Lethal Congenital Contracture Syndrome 5 26 0.037
385
c CNG386 Congenital Disorder of Glycosylation, Type Iu 25 0.037
386
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25 0.037
387
c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25 0.037
388
CNZ006 Coenzyme Q10 Deficiency, Primary, 1 25 0.037
389
c EMR020 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 25 0.037
390
MYP120 Myopathy, Distal, with Rimmed Vacuoles 25 0.037
391
MTC062 Mitochondrial Dna Depletion Syndrome 2 25 0.037
392
c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24 0.037
393
NRP009 Neuropathy, Hereditary Motor and Sensory, Okinawa Type 24 0.037
394
MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 24 0.037
395
c EPL210 Epilepsy, Progressive Myoclonic, 6 24 0.037
396
c MNT145 Mental Retardation, Autosomal Recessive 5 24 0.037
397
CLF051 Cleft Larynx, Posterior 24 0.037
398
c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 24 0.037
399
c MYS074 Myasthenic Syndrome, Congenital, 12 23 0.037
400
MYS016 Myosclerosis, Autosomal Recessive 23 0.037
401
c MTC116 Mitochondrial Myopathy, Infantile, Transient 23 0.037
402
INC031 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 23 0.037
403
c MYP112 Myopathy, Distal, 3 23 0.037
404
PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 23 0.037
405
c MYP119 Myopathy, Myofibrillar, 7 23 0.037
406
c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 22 0.037
407
URG005 Uruguay Faciocardiomusculoskeletal Syndrome 22 0.037
408
MTC078 Mitochondrial Dna Depletion Syndrome 11 22 0.037
409
CMB014 Combined Oxidative Phosphorylation Deficiency 3 22 0.037
410
c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 22 0.037
411
PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 22 0.037
412
c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 22 0.037
413
VCL008 Vacuolar Neuromyopathy 22 0.037
414
MSC164 Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency 22 0.037
415
PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 21 0.037
416
c EPP015 Epiphyseal Dysplasia, Multiple, 3 21 0.037
417
c LSS035 Lissencephaly 8 21 0.037
418
CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 21 0.037
419
CMB064 Combined Oxidative Phosphorylation Deficiency 24 21 0.037
420
c MYP088 Myopathy, Tubular Aggregate, 2 21 0.037
421
c EPL195 Epileptic Encephalopathy, Early Infantile, 53 21 0.037
422
MYP035 Myopathy, Distal, with Anterior Tibial Onset 21 0.037
423
CHR603 Chronic Enteropathy Associated with Slco2a1 Gene 21 0.037
424
PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 21 0.037
425
MSC142 Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability 21 0.037
426
MTR031 Motor Neuro-Ophthalmic Disorders 20 0.037
427
CNT104 Contractures, Congenital, Torticollis, and Malignant Hyperthermia 20 0.037
428
XQ1001 Xq12-Q13.3 Duplication Syndrome 20 0.037
429
RDC016 Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset 20 0.037
430
MTC025 Mitochondrial Myopathy with Diabetes 20 0.037
431
c MYP105 Myopathy, Myosin Storage, Autosomal Dominant 19 0.037
432
SPN267 Spinal Muscular Atrophy, Jokela Type 19 0.037
433
c MYP116 Myopathy, Distal, 5 19 0.037
434
MSC029 Muscular Dystrophy, Congenital, Merosin-Positive 19 0.037
435
MYP121 Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 19 0.037
436
c MYP095 Myopathy, Distal, 4 19 0.037
437
ZBR001 Zebra Body Myopathy 18 0.037
438
RDC012 Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset 18 0.037
439
c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 18 0.037
440
c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 18 0.037
441
PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 18 0.037
442
MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 17 0.037
443
c MYP096 Myopathy, Centronuclear, 3 17 0.037
444
MYP067 Myopathy, Distal, Tateyama Type 16 0.037
445
P MTR062 Maternal Uniparental Disomy of Chromosome 4 15 0.037
446
MYS071 Myasthenia, Limb-Girdle, Autoimmune 14 0.037
447
c MYG006 Myoglobinuria, Autosomal Dominant 14 0.037
448
P MYP124 Myopathy, Distal, Infantile-Onset 13 0.037
449
MYP113 Myopathy, Distal, with Early Respiratory Failure, Autosomal Dominant 13 0.037
450
MYP142 Myopathy, Autophagic Vacuolar, Infantile-Onset 11 0.037
451
MYP110 Myopathy-Growth Delay-Intellectual Disability-Hypospadias Syndrome 11 0.037
452
c MYP129 Myopathy Due to Malate-Aspartate Shuttle Defect 11 0.037
453
MSC153 Muscular Dystrophy, Cardiac Type 10 0.037
454
MSC156 Muscular Dystrophy, Progressive Pectorodorsal 10 0.037
455
PRX095 Proximal Myopathy with Focal Depletion of Mitochondria 10 0.037
456
MYP126 Myopathy with Storage of Glycoproteins and Glycosaminoglycans 7 0.037
457
CRM011 Cramps, Familial Adolescent 7 0.037
458
P PRS040 Prostate Cancer 88 0.026
459
INS024 Insulin-Like Growth Factor I 83 0.026
460
P OVR042 Ovarian Cancer 82 0.026
461
c LKM061 Leukemia, Acute Myeloid 81 0.026
462
CRH001 Crohn's Disease 80 0.026
463
P PLM037 Pulmonary Hypertension 79 0.026
464
P DLT002 Dilated Cardiomyopathy 76 0.026
465
P LVR013 Liver Disease 76 0.026
466
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.026
467
P LKM002 Leukemia 75 0.026
468
SQM006 Squamous Cell Carcinoma 74 0.026
469
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.026
470
PHN003 Phenylketonuria 73 0.026
471
c HPT073 Hepatitis C Virus 73 0.026
472
LVR012 Liver Cirrhosis 73 0.026
473
P CRV035 Cervical Cancer 72 0.026
474
CHG001 Chagas Disease 72 0.026
475
P LYN001 Lynch Syndrome 71 0.026
476
P RSP003 Respiratory Failure 71 0.026
477
P ADN016 Adenocarcinoma 71 0.026
478
CNN003 Conn's Syndrome 70 0.026
479
CRB037 Cerebral Palsy 70 0.026
480
P AMY004 Amyloidosis 69 0.026
481
P MYL006 Myeloid Leukemia 69 0.026
482
c HMP029 Hemophilia a 69 0.026
483
c MYT021 Myotonic Dystrophy 1 68 0.026
484
RNL114 Renal Cell Carcinoma, Nonpapillary 68 0.026
485
P ATR011 Atrial Fibrillation 68 0.026
486
OBS002 Obsessive-Compulsive Disorder 68 0.026
487
c HRD010 Hereditary Spastic Paraplegia 68 0.026
488
ACH004 Achondroplasia 67 0.026
489
LNG099 Lung Disease 67 0.026
490
c PLM164 Pulmonary Hypertension, Primary, 1 67 0.026
491
P CNJ013 Conjunctivitis 67 0.026
492
P AST007 Astrocytoma 66 0.026
493
INS001 Insulinoma 66 0.026
494
PCK003 Pick Disease of Brain 66 0.026
495
P ENC004 Encephalitis 66 0.026
496
P THR014 Thrombocytopenia 65 0.026
497
GLL008 Gilles De La Tourette Syndrome 64 0.026
498
ART005 Arteriovenous Malformation 64 0.026
499
RSP006 Respiratory System Disease 63 0.026
500
DPH001 Diphtheria 63 0.026
501
P SPN046 Spinal Muscular Atrophy 63 0.026
502
P CLD001 Cleidocranial Dysplasia 63 0.026
503
PLM033 Pulmonary Embolism 62 0.026
504
HYP056 Hypoglycemia 62 0.026
505
P GRV001 Graves' Disease 62 0.026
506
THR024 Thrombosis 61 0.026
507
P UVT001 Uveitis 61 0.026
508
c THR092 Thrombophilia Due to Thrombin Defect 61 0.026
509
ANR040 Aneurysm 61 0.026
510
P CTR002 Cataract 60 0.026
511
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60 0.026
512
P DRR001 Diarrhea 60 0.026
513
SPN027 Spinal Stenosis 60 0.026
514
BRN012 Bronchiolitis Obliterans 60 0.026
515
DBT010 Diabetic Neuropathy 60 0.026
516
BRN002 Bronchiolitis 59 0.026
517
LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59 0.026
518
PRS047 Prostatitis 59 0.026
519
P MTR012 Mitral Valve Disease 59 0.026
520
ORL015 Oral Squamous Cell Carcinoma 59 0.026
521
PLC005 Placental Insufficiency 59 0.026
522
VGN023 Vaginitis 59 0.026
523
CRC006 Carcinoid Syndrome 59 0.026
524
TRN015 Transient Cerebral Ischemia 58 0.026
525
DMY004 Demyelinating Disease 58 0.026
526
P END033 Endocarditis 58 0.026
527
LYM019 Lymphosarcoma 58 0.026
528
NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 57 0.026
529
IMM158 Immune Suppression 57 0.026
530
P LPD010 Lipodystrophy 57 0.026
531
P EPS003 Episodic Ataxia 57 0.026
532
CNS004 Constipation 57 0.026
533
HYP052 Hyperkalemic Periodic Paralysis 57 0.026
534
CNT105 Central Core Disease of Muscle 57 0.026
535
CHL014 Cholera 56 0.026
536
PTT009 Pituitary Gland Disease 56 0.026
537
RTN018 Retinal Disease 56 0.026
538
LKN001 Leukoencephalopathy with Vanishing White Matter 56 0.026
539
P HYP076 Hyperthyroidism 56 0.026
540
DSS009 Disseminated Intravascular Coagulation 56 0.026
541
P THY032 Thyroiditis 56 0.026
542
FDL002 Food Allergy 55 0.026
543
P CNG001 Congenital Myasthenic Syndrome 55 0.026
544
NRT004 Neuritis 55 0.026
545
STR020 Strabismus 55 0.026
546
SPS003 Spastic Diplegia 55 0.026
547
TXC002 Toxic Encephalopathy 55 0.026
548
P HYP024 Hypoparathyroidism 55 0.026
549
c CLR131 Ciliary Dyskinesia, Primary, 1 54 0.026
550
c OVR114 Ovarian Cancer 1 54 0.026
551
TCD001 Tic Disorder 54 0.026
552
P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 54 0.026
553
CHY002 Chylomicron Retention Disease 54 0.026
554
P DBT005 Diabetes Insipidus 54 0.026
555
c EPS035 Episodic Ataxia, Type 2 54 0.026
556
HYP080 Hypogonadism 54 0.026
557
FNC009 Fanconi-Bickel Syndrome 53 0.026
558
PRP019 Peripheral Nervous System Disease 53 0.026
559
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 53 0.026
560
HYP005 Hypokalemia 53 0.026
561
P MTC133 Mitochondrial Myopathy 53 0.026
562
RSS026 Roussy-Levy Hereditary Areflexic Dystasia 53 0.026
563
PRP016 Paraplegia 53 0.026
564
CLN015 Colon Adenocarcinoma 53 0.026
565
CRD223 Cardiac Arrhythmia 52 0.026
566
CRN030 Coronary Stenosis 52 0.026
567
ILT001 Ileitis 52 0.026
568
c SCN036 Secondary Progressive Multiple Sclerosis 52 0.026
569
LMB062 Limb Ischemia 52 0.026
570
P PRC012 Pericardial Effusion 52 0.026
571
DBT004 Diabetic Polyneuropathy 51 0.026
572
c CHR283 Chronic Inflammatory Demyelinating Polyneuropathy 51 0.026
573
P ASP001 Asperger Syndrome 51 0.026
574
GSG001 Gas Gangrene 51 0.026
575
SCH012 Schizoaffective Disorder 51 0.026
576
c CNG012 Congenital Generalized Lipodystrophy 51 0.026
577
P END046 Endometritis 51 0.026
578
c GLY007 Glycogen Storage Disease Iv 51 0.026
579
c MYP132 Myopathy, Congenital 51 0.026
580
CCN002 Cocaine Abuse 50 0.026
581
P PSD015 Pseudohypoparathyroidism 50 0.026
582
c PRM108 Primary Progressive Multiple Sclerosis 50 0.026
583
c SPN393 Spinal Muscular Atrophy, Type I 50 0.026
584
SBP001 Subependymal Giant Cell Astrocytoma 50 0.026
585
HMC014 Homocysteinemia 49 0.026
586
P CRV039 Cervicitis 49 0.026
587
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.026
588
HYP063 Hypersplenism 49 0.026
589
NCR007 Necrotizing Fasciitis 49 0.026
590
MTB004 Metabolic Acidosis 49 0.026
591
P GNT008 Giant Cell Tumor 49 0.026
592
ANR004 Anuria 49 0.026
593
P RNL017 Renal Oncocytoma 49 0.026
594
NPH003 Nephrocalcinosis 49 0.026
595
MNN009 Meningoencephalitis 49 0.026
596
FSC004 Fasciitis 48 0.026
597
HPR003 Heparin-Induced Thrombocytopenia 48 0.026
598
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.026
599
HRT015 Heritable Pulmonary Arterial Hypertension 48 0.026
600
c AMY009 Amyloidosis Aa 48 0.026
601
PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 48 0.026
602
MYC005 Myocardial Stunning 47 0.026
603
DYS073 Dysphagia 47 0.026
604
CRB085 Cerebral Hemorrhage 47 0.026
605
c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 47 0.026
606
CRB090 Cerebral Hypoxia 47 0.026
607
P DMY001 Demyelinating Polyneuropathy 46 0.026
608
KRT010 Kartagener Syndrome 46 0.026
609
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.026
610
LKM006 Leukomalacia 46 0.026
611
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.026
612
END072 Endotheliitis 46 0.026
613
CNT025 Central Pontine Myelinolysis 45 0.026
614
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.026
615
CNT060 Central Serous Chorioretinopathy 45 0.026
616
TST044 Testicular Torsion 45 0.026
617
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.026
618
PNN005 Panencephalitis, Subacute Sclerosing 44 0.026
619
PHC013 Phaeochromocytoma 44 0.026
620
OST062 Osteoarthritis with Mild Chondrodysplasia 43 0.026
621
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 43 0.026
622
HYP070 Hyperpituitarism 43 0.026
623
HYP141 Hyperphenylalaninemia 43 0.026
624
KWS001 Kwashiorkor 43 0.026
625
PYM001 Pyomyositis 42 0.026
626
ACT167 Acute Generalized Exanthematous Pustulosis 42 0.026
627
PRX014 Proximal Spinal Muscular Atrophy 42 0.026
628
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.026
629
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.026
630
c PLY141 Polycystic Kidney Disease 5 42 0.026
631
BCL014 B-Cell Growth Factor 42 0.026
632
EST003 Eastern Equine Encephalitis 41 0.026
633
c PRG001 Progressive Muscular Atrophy 41 0.026
634
c CRN278 Craniosynostosis 1 41 0.026
635
ADP007 Adie Pupil 41 0.026
636
SPS057 Spasticity 41 0.026
637
LTH045 Lutheran Suppressor, X-Linked 41 0.026
638
CHN004 Chondroblastoma 40 0.026
639
P CRB059 Cerebellar Degeneration 40 0.026
640
NTV001 Native American Myopathy 40 0.026
641
MTR007 Motor Peripheral Neuropathy 39 0.026
642
PHT003 Phototoxic Dermatitis 39 0.026
643
OLG001 Oligospermia 39 0.026
644
GLC008 Glucose Metabolism Disease 38 0.026
645
c MLG147 Malignant Hyperthermia 1 38 0.026
646
DST004 Distal Muscular Dystrophy 38 0.026
647
URT014 Ureterolithiasis 38 0.026
648
c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 38 0.026
649
HYP064 Hypogonadotropism 38 0.026
650
ALC010 Alcoholic Cardiomyopathy 38 0.026
651
P BLD051 Blood Coagulation Disease 38 0.026
652
PLX004 Plexopathy 37 0.026
653
HRD054 Hereditary Neuropathy with Liability to Pressure Palsy 37 0.026
654
LYM005 Lymphocele 37 0.026
655
NRV004 Nerve Compression Syndrome 37 0.026
656
SWL001 Swallowing Disorders 36 0.026
657
PRS063 Paresthesia 36 0.026
658
c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 36 0.026
659
VRS001 Virus Associated Hemophagocytic Syndrome 36 0.026
660
HYD001 Hydranencephaly 36 0.026
661
MYS002 Myositis Fibrosa 35 0.026
662
DYS001 Dyskinetic Cerebral Palsy 34 0.026
663
DYS030 Dysferlinopathy 34 0.026
664
MNG003 Mungan Syndrome 34 0.026
665
c MSC057 Muscular Dystrophy, Limb-Girdle, Type 1f 34 0.026
666
ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 34 0.026
667
P BCT020 Bacteremia 2 34 0.026
668
PND004 Pandas 34 0.026
669
CRY032 Carey-Fineman-Ziter Syndrome 33 0.026
670
INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 33 0.026
671
SPS019 Spastic Paraparesis 33 0.026
672
PRN032 Paraneoplastic Cerebellar Degeneration 33 0.026
673
c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 33 0.026
674
NNT033 Neonatal Hypoxic and Ischemic Brain Injury 33 0.026
675
HDG002 Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance 33 0.026
676
c MYG007 Myoglobinuria, Recurrent 32 0.026
677
ADN029 Adenosine Monophosphate Deaminase 1 Deficiency 32 0.026
678
HYP264 Hypertonia 32 0.026
679
c CNG112 Congenital Muscular Dystrophy Type 1a 31 0.026
680
P SPS225 Spastic Paralysis, Infantile-Onset Ascending 31 0.026
681
MNC011 Minicore Myopathy with External Ophthalmoplegia 30 0.026
682
ALR002 Al-Raqad Syndrome 30 0.026
683
c CNG204 Congenital Disorder of Glycosylation, Type Iih 30 0.026
684
CNT017 Central Nervous System Origin Vertigo 30 0.026
685
ANG060 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 30 0.026
686
SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 29 0.026
687
ATX010 Ataxia Neuropathy Spectrum 29 0.026
688
DPH007 Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma 29 0.026
689
PHS010 Phosphoglycerate Mutase Deficiency 29 0.026
690
c INF041 Infantile-Onset Ascending Hereditary Spastic Paralysis 29 0.026
691
c PST001 Posterior Myocardial Infarction 28 0.026
692
P HRD138 Hereditary Motor and Sensory Neuropathy V 27 0.026
693
CHL045 Choline Deficiency Disease 27 0.026
694
MTC107 Mitochondrial Complex I Deficiency Due to Acad9 Deficiency 27 0.026
695
c ART112 Arthrogryposis, Distal, Type 10 26 0.026
696
c GLY009 Glycogen Storage Disease Xv 26 0.026
697
VBR003 Vibrio Vulnificus Infection 24 0.026
698
c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 24 0.026
699
CRB169 Cerebellar Atrophy, Developmental Delay, and Seizures 24 0.026
700
P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 24 0.026
701
c MLG148 Malignant Hyperthermia 2 24 0.026
702
INC015 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 23 0.026
703
ALC002 Alcohol-Related Neurodevelopmental Disorder 22 0.026
704
TCK002 Tick Paralysis 22 0.026
705
c MLG149 Malignant Hyperthermia 3 22 0.026
706
c NRN036 Neuronopathy, Distal Hereditary Motor, Type Viii 22 0.026
707
HYP187 Hypertryptophanemia 21 0.026
708
OST168 Osteosclerotic Metaphyseal Dysplasia 21 0.026
709
c NML024 Nemaline Myopathy 11, Autosomal Recessive 21 0.026
710
c MYP148 Myopathy, Centronuclear, 5 20 0.026
711
MYP038 Myopathy, Congenital, Compton-North 20 0.026
712
INT062 Interstitial Myocarditis 19 0.026
713
c MYP098 Myopathy, Centronuclear, 4 18 0.026
714
LTH004 Lathyrism 17 0.026
715
GLY085 Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency 16 0.026
716
IMM188 Immunodeficiency, Developmental Delay, and Hypohomocysteinemia 16 0.026
717
HMR014 Hemorrhagic Shock and Encephalopathy Syndrome 15 0.026
718
MYP149 Myopathy, Mitochondrial, and Ataxia 15 0.026
719
WLN002 Welander Distal Myopathy, Swedish Type 15 0.026
720
LPR019 Lipe-Related Familial Partial Lipodystrophy 15 0.026
721
CMB082 Combined Oxidative Phosphorylation Deficiency 33 14 0.026
722
MYP122 Myopathy, Congenital, with Neuropathy and Deafness 13 0.026
723
MSC158 Muscular Dystrophy, Scapulohumeral 11 0.026
724
MYP150 Myopathy, Centronuclear, 6, with Fiber-Type Disproportion 11 0.026
725
MSC143 Muscle Cramps, Familial 8 0.026
Content
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