Search results for Creatine

880 hits were found for Creatine

# Family MCID Name MIFTS Score
1
CRB151 Cerebral Creatine Deficiency Syndrome 1 46 10.179
2
CRB148 Cerebral Creatine Deficiency Syndrome 3 36 5.228
3
CRB150 Cerebral Creatine Deficiency Syndrome 2 45 4.791
4
CRT055 Creatine Deficiency Syndromes 27 4.449
5
CRT045 Creatine Phosphokinase, Elevated Serum 33 4.238
6
CRB137 Cerebral Creatine Deficiency Syndrome 27 3.760
7
SLC018 Slc6a8-Related Creatine Transporter Deficiency 12 3.689
8
P ISL077 Isolated Hyperckemia 12 3.002
9
LRG010 L-Arginine:glycine Amidinotransferase Deficiency 12 2.164
10
ISL053 Isolated Asymptomatic Elevation of Creatine Phosphokinase 2 2.130
11
P MYC007 Myocardial Infarction 79 0.241
12
c ACT075 Acute Myocardial Infarction 60 0.203
13
P MYP004 Myopathy 67 0.145
14
CRB009 Cerebritis 39 0.139
15
P MSC005 Muscular Dystrophy 65 0.127
16
NRN002 Neuronitis 41 0.110
17
P MSC033 Muscle Disorders 52 0.104
18
END040 Endogenous Depression 53 0.099
19
MNT002 Mental Depression 53 0.099
20
NRM005 Neuromuscular Disease 56 0.096
21
P LTR001 Lateral Sclerosis 53 0.089
22
MSC004 Muscle Tissue Disease 34 0.089
23
ECT026 Ectopic Pregnancy 48 0.086
24
ISC004 Ischemia 61 0.083
25
P PLY041 Polymyositis 52 0.083
26
P MSC003 Muscular Atrophy 50 0.083
27
GLT021 Glutaricaciduria, Type I 46 0.083
28
BCK001 Becker Muscular Dystrophy 69 0.079
29
MDD011 Mood Disorder 61 0.079
30
MJR011 Major Depressive Disorder and Accelerated Response to Antidepressant Drug Treatment 53 0.079
31
MVM001 Movement Disease 49 0.079
32
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 35 0.076
33
DCH001 Duchenne Muscular Dystrophy 79 0.072
34
MTR014 Motor Neuron Disease 58 0.072
35
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 41 0.072
36
BSL008 Basal Ganglia Disease 40 0.072
37
P HNT016 Huntington Disease 80 0.068
38
P DRM010 Dermatomyositis 62 0.068
39
P ENC018 Encephalopathy 59 0.068
40
P INT063 Intellectual Disability 49 0.068
41
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 42 0.068
42
NRL004 Neuroleptic Malignant Syndrome 41 0.068
43
NTR005 Nutritional Deficiency Disease 36 0.068
44
c MJR004 Major Affective Disorder 4 16 0.068
45
ATR076 Atrophic Muscular Disease 15 0.068
46
P CRD011 Cardiomyopathy 68 0.063
47
DMN002 Dementia 65 0.063
48
MLG056 Malignant Hyperthermia 58 0.063
49
HYP266 Hypoxia 56 0.063
50
P MTC069 Mitochondrial Disorders 53 0.063
51
SPN041 Spinal Cord Disease 51 0.063
52
P MYT002 Myotonic Dystrophy 48 0.063
53
c MTR002 Mitral Valve Insufficiency 44 0.063
54
SPN369 Spinal Disease 39 0.063
55
CHR073 Choreatic Disease 37 0.063
56
SCR035 Sacral Agenesis with Vertebral Anomalies 30 0.063
57
CHR321 Chorea and Dementia 16 0.063
58
c AMY091 Amyotrophic Lateral Sclerosis 1 78 0.059
59
P EPL164 Epilepsy 66 0.059
60
c CNT035 Central Nervous System Disease 60 0.059
61
RHM027 Rheumatic Disease 58 0.059
62
P MYS005 Myositis 57 0.059
63
SYN036 Syncope 47 0.059
64
c MSC114 Muscular Dystrophy, Limb-Girdle, Type 2e 43 0.059
65
CHL028 Childhood Type Dermatomyositis 42 0.059
66
SPC010 Speech and Communication Disorders 41 0.059
67
c PRG106 Progressive Muscular Dystrophy 40 0.059
68
P XLN007 X-Linked Disease 34 0.059
69
P ATS049 Autism Susceptibility, X-Linked 2 33 0.059
70
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 27 0.059
71
c SYS001 Systemic Lupus Erythematosus 86 0.053
72
P RTT002 Rett Syndrome 77 0.053
73
P SCH015 Schizophrenia 77 0.053
74
P ART022 Arthritis 75 0.053
75
P HRT032 Heart Disease 75 0.053
76
P NRV007 Nervous System Disease 71 0.053
77
INC002 Inclusion Body Myositis 66 0.053
78
P LPS004 Lupus Erythematosus 64 0.053
79
P HYP086 Hypothyroidism 64 0.053
80
P BPL003 Bipolar Disorder 62 0.053
81
P SZR006 Seizure Disorder 56 0.053
82
ART111 Artery Disease 55 0.053
83
FCS012 Facioscapulohumeral Muscular Dystrophy 1 50 0.053
84
LRN003 Learning Disability 49 0.053
85
AMN002 Amino Acid Metabolic Disorder 47 0.053
86
HYP711 Hypotonia, Ataxia, and Delayed Development Syndrome 26 0.053
87
c MJR008 Major Affective Disorder 2 19 0.053
88
MYP104 Myopathy, Vacuolar, with Casq1 Aggregates 16 0.053
89
c MJR006 Major Affective Disorder 5 15 0.053
90
P LNG032 Lung Cancer 95 0.048
91
P OST012 Osteoarthritis 83 0.048
92
P CRN211 Coronary Artery Disease 74 0.048
93
CNG034 Congestive Heart Failure 72 0.048
94
PRP027 Peripheral Vascular Disease 68 0.048
95
ANX002 Anxiety Disorder 67 0.048
96
P OST002 Osteoporosis 64 0.048
97
SPN186 Spinal Cord Injury 63 0.048
98
CNN005 Connective Tissue Disease 62 0.048
99
CRD119 Cardiac Arrest 61 0.048
100
P INF032 Infertility 59 0.048
101
ART021 Arteriosclerosis 58 0.048
102
CHL071 Child Syndrome 58 0.048
103
MCR264 Mcardle Disease 56 0.048
104
KDS001 Kid Syndrome 53 0.048
105
DSS008 Disease of Mental Health 52 0.048
106
ADL002 Adult Syndrome 52 0.048
107
c ABD014 Abdominal Obesity-Metabolic Syndrome 1 52 0.048
108
BRN071 Brain Injury 52 0.048
109
P CLL015 Collagen Disease 50 0.048
110
DRG003 Drug Dependence 50 0.048
111
CSY001 C Syndrome 50 0.048
112
HYP037 Hyperhomocysteinemia 50 0.048
113
P MLG086 Malignant Hyperthermia Susceptibility 45 0.048
114
ACR041 Acromelic Frontonasal Dysostosis 45 0.048
115
CRB090 Cerebral Hypoxia 45 0.048
116
CHR008 Choroiditis 44 0.048
117
17L004 17-Alpha-Hydroxylase/17,20-Lyase Deficiency 43 0.048
118
BRT030 Birth Defects 43 0.048
119
SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 43 0.048
120
PRD011 Proud Syndrome 42 0.048
121
OBS015 Obesity, Hyperphagia, and Developmental Delay 41 0.048
122
MNR003 Mineral Metabolism Disease 38 0.048
123
PHS001 Phosphorus Metabolism Disease 38 0.048
124
DRG001 Drug Psychosis 38 0.048
125
MYT015 Myotonia Congenita, Atypical, Acetazolamide-Responsive 36 0.048
126
c MJR007 Major Affective Disorder 1 24 0.048
127
MSC012 Muscular Dystrophy, Duchenne and Becker Type 22 0.048
128
c CRN174 Coronary Heart Disease 2 20 0.048
129
c CRN172 Coronary Heart Disease 3 19 0.048
130
P BRS047 Breast Cancer 100 0.041
131
P RHM011 Rheumatoid Arthritis 89 0.041
132
P AST005 Asthma 82 0.041
133
ULC004 Ulcerative Colitis 76 0.041
134
MLT021 Multiple System Atrophy 70 0.041
135
P PRK057 Parkinson Disease, Late-Onset 70 0.041
136
P NRB001 Neuroblastoma 70 0.041
137
P HPT021 Hepatitis 69 0.041
138
P GLB002 Glioblastoma 68 0.041
139
ISC006 Ischemic Heart Disease 68 0.041
140
PCK002 Pick Disease 68 0.041
141
PSY004 Psychotic Disorder 67 0.041
142
P MNN013 Meningitis 67 0.041
143
P CHR071 Charcot-Marie-Tooth Disease 67 0.041
144
CRB037 Cerebral Palsy 66 0.041
145
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 66 0.041
146
P ART023 Arthropathy 64 0.041
147
ATS001 Autistic Disorder 63 0.041
148
P OST001 Osteopetrosis 63 0.041
149
P PNC044 Pancreatitis 61 0.041
150
CLT003 Colitis 60 0.041
151
P GRV001 Graves' Disease 59 0.041
152
c GLY008 Glycogen Storage Disease Ii 59 0.041
153
WLL006 Wells Syndrome 59 0.041
154
LPD008 Lipid Metabolism Disorder 58 0.041
155
ETN001 Eating Disorder 58 0.041
156
RHB003 Rhabdomyosarcoma 57 0.041
157
GST050 Gastrointestinal System Disease 56 0.041
158
JNT002 Joint Disorders 55 0.041
159
PRP019 Peripheral Nervous System Disease 55 0.041
160
P TRM003 Tremor 54 0.041
161
c MSC113 Muscular Dystrophy, Limb-Girdle, Type 2b 54 0.041
162
SBS003 Substance Abuse 54 0.041
163
P ATX004 Ataxia 53 0.041
164
OCL008 Oculopharyngeal Muscular Dystrophy 52 0.041
165
P HYP370 Hypokalemic Periodic Paralysis, Type 1 51 0.041
166
BNF002 Bone Fracture 50 0.041
167
URN009 Urinary System Disease 50 0.041
168
ANG054 Angina Pectoris 50 0.041
169
P URF003 Urofacial Syndrome 1 50 0.041
170
c INH020 Inherited Metabolic Disorder 49 0.041
171
MSS002 Mass Syndrome 48 0.041
172
ATN002 Autonomic Nervous System Disease 48 0.041
173
P CMP008 Compartment Syndrome 48 0.041
174
c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 47 0.041
175
CRB025 Carbohydrate Metabolic Disorder 46 0.041
176
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 46 0.041
177
IDP024 Idiopathic Inflammatory Myopathy 46 0.041
178
EPS004 Episodic Ataxia/myokymia Syndrome 45 0.041
179
ALN001 Aland Island Eye Disease 45 0.041
180
CHR105 Choreoacanthocytosis 44 0.041
181
GDS001 Good Syndrome 44 0.041
182
c CHR095 Chronic Progressive External Ophthalmoplegia 44 0.041
183
CRN041 Carnitine-Acylcarnitine Translocase Deficiency 43 0.041
184
CRD178 Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 43 0.041
185
FCL041 Focal Myositis 42 0.041
186
c MSC119 Muscular Dystrophy, Limb-Girdle, Type 2h 41 0.041
187
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 38 0.041
188
BNS002 Bone Structure Disease 37 0.041
189
HYP624 Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase 36 0.041
190
MTC005 Mitochondrial Metabolism Disease 36 0.041
191
IMP003 Impaired Renal Function Disease 34 0.041
192
FNT004 Fainting 33 0.041
193
c CRD187 Cardiomyopathy, Dilated, 3b 33 0.041
194
c AMY088 Amyotrophic Lateral Sclerosis 3 31 0.041
195
RDC010 Reducing Body Myopathy 31 0.041
196
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 31 0.041
197
c ADL027 Adult Dermatomyositis 31 0.041
198
c OST147 Osteoarthritis 1 30 0.041
199
VTM003 Vitamin Metabolic Disorder 30 0.041
200
MTC059 Mitochondrial Dna Depletion Syndrome 5 27 0.041
201
RTN072 Retinohepatoendocrinologic Syndrome 26 0.041
202
DMT001 Dimethylglycine Dehydrogenase Deficiency 26 0.041
203
P CRN178 Coronary Heart Disease 6 21 0.041
204
MCL055 Mcleod Syndrome with or Without Chronic Granulomatous Disease 21 0.041
205
c JVN046 Juvenile Polymyositis 20 0.041
206
c CRN175 Coronary Heart Disease 4 19 0.041
207
AND005 Androgen Insensitivity Syndrome, Mild 16 0.041
208
c MJR003 Major Affective Disorder 6 15 0.041
209
MTC024 Mitochondrial Genetic Disorders 14 0.041
210
P HPT023 Hepatocellular Carcinoma 92 0.034
211
MLR004 Malaria 83 0.034
212
HV1006 Hiv-1 80 0.034
213
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 78 0.034
214
P HYP607 Hypercholesterolemia, Familial 76 0.034
215
P INF038 Influenza 72 0.034
216
CRZ001 Crouzon Syndrome 70 0.034
217
ATT013 Attention Deficit-Hyperactivity Disorder 69 0.034
218
P OST005 Osteogenesis Imperfecta 69 0.034
219
c HPT001 Hepatitis C 68 0.034
220
P PNM007 Pneumonia 68 0.034
221
P ATR011 Atrial Fibrillation 66 0.034
222
P KDN018 Kidney Disease 66 0.034
223
c CHR089 Chronic Kidney Failure 66 0.034
224
SRC014 Sarcoma 66 0.034
225
CNT098 Central Core Disease 65 0.034
226
P THL005 Thalassemia 64 0.034
227
HMT002 Hematologic Cancer 64 0.034
228
CHR066 Chronic Fatigue Syndrome 64 0.034
229
P INF037 Inflammatory Bowel Disease 63 0.034
230
RCT015 Reactive Arthritis 63 0.034
231
ACN011 Acne 62 0.034
232
GNG013 Gingivitis 61 0.034
233
P ANG001 Angelman Syndrome 61 0.034
234
P IDP010 Idiopathic Generalized Epilepsy 61 0.034
235
P DNT015 Dent Disease 61 0.034
236
MTH009 Mouth Disease 61 0.034
237
KRN002 Kearns-Sayre Syndrome 61 0.034
238
ACQ007 Acquired Immunodeficiency Syndrome 60 0.034
239
P INT068 Intestinal Disease 60 0.034
240
P GLM045 Glioma 60 0.034
241
PRM097 Primary Immunodeficiency Disease 60 0.034
242
PLM031 Poliomyelitis 60 0.034
243
WLL001 Williams-Beuren Syndrome 60 0.034
244
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60 0.034
245
P ORL007 Oral Cavity Cancer 59 0.034
246
GST045 Gastroenteritis 59 0.034
247
P NRP001 Neuropathy 59 0.034
248
c FML001 Familial Atrial Fibrillation 58 0.034
249
P MSC007 Muscle Hypertrophy 58 0.034
250
CHY002 Chylomicron Retention Disease 57 0.034
251
P EXN002 Exanthem 57 0.034
252
c CWD006 Cowden Syndrome 1 57 0.034
253
ADM013 Adamantinoma of Long Bones 57 0.034
254
MSC077 Muscle Eye Brain Disease 57 0.034
255
c ACT027 Acute Pancreatitis 57 0.034
256
EXF001 Exfoliation Syndrome 57 0.034
257
ORL011 Oral Cancer 56 0.034
258
INT002 Intermittent Claudication 56 0.034
259
P SPR098 Supranuclear Palsy, Progressive 56 0.034
260
c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 55 0.034
261
MLN007 Male Infertility 55 0.034
262
P EMR001 Emery-Dreifuss Muscular Dystrophy 55 0.034
263
END030 End Stage Renal Failure 55 0.034
264
MCS002 Mucositis 55 0.034
265
c PND001 Pain Disorder 54 0.034
266
P MYC008 Myocarditis 54 0.034
267
AMY066 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 54 0.034
268
CND002 Conduct Disorder 54 0.034
269
P LRY019 Laryngitis 54 0.034
270
THR100 Thrombocytopenic Purpura, Autoimmune 54 0.034
271
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 53 0.034
272
TTH006 Tooth Disease 52 0.034
273
BRN106 Burns 52 0.034
274
KRT002 Keratomalacia 52 0.034
275
TRM010 Traumatic Brain Injury 52 0.034
276
ALL026 Allergic Hypersensitivity Disease 52 0.034
277
OPT006 Optic Nerve Disease 52 0.034
278
c PRK031 Parkinson Disease 1 51 0.034
279
c INF071 Inflammatory Bowel Disease 1 51 0.034
280
TXC002 Toxic Encephalopathy 51 0.034
281
DRG011 Drug Addiction 51 0.034
282
P LMB006 Limb-Girdle Muscular Dystrophy 51 0.034
283
PTH002 Pathological Gambling 51 0.034
284
VRC001 Varicocele 51 0.034
285
CLN019 Colonic Disease 51 0.034
286
INT007 Intermediate Coronary Syndrome 50 0.034
287
RTN023 Retinitis 50 0.034
288
P HYP614 Hyperlipidemia, Familial Combined 50 0.034
289
P HMC002 Homocystinuria 50 0.034
290
HMN014 Human Immunodeficiency Virus Infectious Disease 50 0.034
291
RHM028 Rheumatic Heart Disease 50 0.034
292
HPT074 Hepatic Adenoma, Somatic 50 0.034
293
c ACT071 Acute Kidney Failure 49 0.034
294
c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 48 0.034
295
P FML035 Familial Hyperlipidemia 48 0.034
296
c PRK059 Parkinson Disease 8 48 0.034
297
URM002 Uremia 48 0.034
298
P THY054 Thyrotoxic Periodic Paralysis 48 0.034
299
SBS004 Substance Dependence 47 0.034
300
c BPL002 Bipolar I Disorder 47 0.034
301
c CNG206 Congenital Disorder of Glycosylation, Type Ie 47 0.034
302
BRD001 Brody Myopathy 47 0.034
303
CRB085 Cerebral Hemorrhage 46 0.034
304
P CRN035 Cranial Nerve Palsy 46 0.034
305
P PLN008 Peeling Skin Syndrome 45 0.034
306
HDN002 Head Injury 45 0.034
307
MSC039 Muscular Dystrophy, Congenital Merosin-Deficient 45 0.034
308
MXD023 Mixed Cell Type Cancer 44 0.034
309
GLY014 Glycerol Kinase Deficiency 44 0.034
310
c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 44 0.034
311
c GRV008 Graves Disease 1 44 0.034
312
PHY002 Physical Disorder 43 0.034
313
LKC003 Leukocyte Disease 43 0.034
314
c ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 43 0.034
315
BHR001 Behr Syndrome 42 0.034
316
c ATM022 Autoimmune Myocarditis 42 0.034
317
TRC023 Trichinosis 42 0.034
318
P MYS033 Miyoshi Muscular Dystrophy 1 42 0.034
319
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 42 0.034
320
P HVY001 Heavy Chain Disease 41 0.034
321
P RPP002 Rippling Muscle Disease 41 0.034
322
AYM001 Ayme-Gripp Syndrome 41 0.034
323
CHR413 Chronic Myocardial Ischemia 41 0.034
324
c AMY090 Amyotrophic Lateral Sclerosis 8 41 0.034
325
SPC005 Speech Disorder 41 0.034
326
c AMY085 Amyotrophic Lateral Sclerosis 9 40 0.034
327
c PRK045 Parkinson Disease 5 40 0.034
328
NTR007 Neutral Lipid Storage Disease with Myopathy 40 0.034
329
PDT035 Pediatric Systemic Lupus Erythematosus 40 0.034
330
CRN031 Cranial Nerve Disease 40 0.034
331
SPN040 Spinal Cancer 39 0.034
332
FML036 Familial Periodic Paralysis 39 0.034
333
MYF002 Myofascial Pain Syndrome 39 0.034
334
ANT039 Antisynthetase Syndrome 39 0.034
335
c AMY069 Amyotrophic Lateral Sclerosis 21 38 0.034
336
RHM009 Rheumatoid Lung Disease 38 0.034
337
ADJ001 Adjustment Disorder 38 0.034
338
c PRK030 Parkinson Disease 4 38 0.034
339
WTH001 Withdrawal Disorder 37 0.034
340
PRP080 Peripheral Artery Disease 37 0.034
341
c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 37 0.034
342
MYP100 Myopathy, X-Linked, with Excessive Autophagy 37 0.034
343
OCL011 Ocular Motility Disease 37 0.034
344
STR015 Stereotypic Movement Disorder 36 0.034
345
NSY001 N Syndrome 36 0.034
346
c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 36 0.034
347
FCL011 Facial Nerve Disease 36 0.034
348
ALR002 Al-Raqad Syndrome 36 0.034
349
c MSC049 Muscular Dystrophy, Limb-Girdle, Type Ic 36 0.034
350
ATM012 Autoimmune Disease of Blood 35 0.034
351
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 35 0.034
352
EPL001 Epilepsy with Generalized Tonic-Clonic Seizures 35 0.034
353
c MSC063 Muscular Dystrophy, Limb-Girdle, Type 2j 35 0.034
354
c GLY057 Glycogen Storage Disease X 35 0.034
355
c PRG104 Progressive External Ophthalmoplegia, Autosomal Recessive 1 35 0.034
356
MYX004 Myxedema 35 0.034
357
c EMR011 Emery-Dreifuss Muscular Dystrophy 2, Ad 35 0.034
358
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34 0.034
359
c INF089 Inflammatory Bowel Disease 6 34 0.034
360
PLC008 Placenta Disease 33 0.034
361
c DGT005 Digital Arthropathy-Brachydactyly, Familial 33 0.034
362
SCH068 Schwartz-Jampel Syndrome, Type 1 32 0.034
363
c HYP272 Hypercholesterolemia, Familial, 3 32 0.034
364
GLB003 Globe Disease 32 0.034
365
P CHR084 Chromosomal Disease 32 0.034
366
KDN013 Kidney Hypertrophy 31 0.034
367
c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 31 0.034
368
FST001 Foster-Kennedy Syndrome 31 0.034
369
FML304 Familial Isolated Dilated Cardiomyopathy 31 0.034
370
c INF078 Inflammatory Bowel Disease 2 31 0.034
371
c ACT072 Acute Laryngitis 30 0.034
372
c LPD035 Lipodystrophy, Congenital Generalized, Type 4 30 0.034
373
MTB007 Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 30 0.034
374
c PRK051 Parkinson Disease 18 30 0.034
375
c LMB047 Limb-Girdle Muscular Dystrophy, Type 1g 29 0.034
376
c PRM092 Primary Lateral Sclerosis, Adult, 1 29 0.034
377
ATM016 Autoimmune Disease of Skin and Connective Tissue 29 0.034
378
c PLN021 Peeling Skin Syndrome 3 29 0.034
379
c TRC078 Trichohepatoenteric Syndrome 2 29 0.034
380
c MNT149 Mental Retardation, X-Linked 3 29 0.034
381
PRM243 Primary Bone Cancer 29 0.034
382
c SCH051 Schizophrenia 4 28 0.034
383
c CNG379 Congenital Disorder of Glycosylation, Type It 28 0.034
384
PRL013 Paralytic Poliomyelitis 28 0.034
385
c MYC058 Myocardial Infarction 2 28 0.034
386
OST097 Osteoporotic Fracture 28 0.034
387
CKS001 Ck Syndrome 27 0.034
388
GNC005 Geniculate Ganglionitis 27 0.034
389
CHR387 Chromosome Xp21 Deletion Syndrome 27 0.034
390
MYP007 Myopathy Due to Cpt Ii Deficiency 26 0.034
391
LNG097 Liang Distal Myopathy 26 0.034
392
HNM002 Hinman Syndrome 25 0.034
393
c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 25 0.034
394
c INF068 Inflammatory Bowel Disease 13 25 0.034
395
c MLT094 Multiple Sclerosis 3 24 0.034
396
EYC003 Eye Accommodation Disease 24 0.034
397
c GLY059 Glycogen Storage Disease Xiii 23 0.034
398
c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 23 0.034
399
P ATS268 Autism X-Linked 4 23 0.034
400
c CNG207 Congenital Disorder of Glycosylation, Type Io 23 0.034
401
c LPD036 Lipodystrophy, Familial Partial, Type 6 22 0.034
402
c INF091 Inflammatory Bowel Disease 8 22 0.034
403
MNT014 Mental Retardation Epilepsy 22 0.034
404
c CRN214 Coronary Heart Disease 5 22 0.034
405
c PRK078 Parkinson Disease 22 20 0.034
406
CLF041 Cleft Larynx, Posterior Stridor, Congenital, Included 20 0.034
407
c SYS055 Systemic Lupus Erythematosus 12 20 0.034
408
P GNR027 Generalized Peeling Skin Syndrome 19 0.034
409
MTR031 Motor Neuro-Ophthalmic Disorders 19 0.034
410
c INF080 Inflammatory Bowel Disease 21 19 0.034
411
c SYS053 Systemic Lupus Erythematosus 5 18 0.034
412
c SPR049 Supranuclear Palsy, Progressive, 2 18 0.034
413
c CRN176 Coronary Heart Disease 9 18 0.034
414
c ATS173 Autism 18 17 0.034
415
ERY030 Erythrocyte Lactate Transporter Defect 17 0.034
416
c GRV009 Graves Disease 2 16 0.034
417
SPR038 Supranuclear Ocular Palsy 15 0.034
418
ZBR001 Zebra Body Myopathy 15 0.034
419
c ATS172 Autism 10 15 0.034
420
STT044 Statin Toxicity 14 0.034
421
PRP050 Peripheral Arterial Occlusive Disease 1 14 0.034
422
UPP009 Upper Limb Hypertrophy 14 0.034
423
c DLT001 Delta Chain Disease 13 0.034
424
INB001 Inborn Amino Acid Metabolism Disorder 12 0.034
425
LMN004 Laminopathy Type Decaudain-Vigouroux 12 0.034
426
XQ1001 Xq12-Q13.3 Duplication Syndrome 10 0.034
427
MNT033 Mental Retardation X-Linked Dysmorphism 10 0.034
428
MYP110 Myopathy-Growth Delay-Intellectual Disability-Hypospadias Syndrome 8 0.034
429
P ALZ034 Alzheimer Disease 92 0.024
430
P OBS005 Obesity 92 0.024
431
P PRS040 Prostate Cancer 90 0.024
432
P RNL014 Renal Cell Carcinoma 82 0.024
433
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80 0.024
434
P PLM037 Pulmonary Hypertension 79 0.024
435
P OVR042 Ovarian Cancer 76 0.024
436
c DLT002 Dilated Cardiomyopathy 76 0.024
437
P LVR013 Liver Disease 75 0.024
438
STR067 Stroke, Ischemic 75 0.024
439
CRH001 Crohn's Disease 75 0.024
440
INS024 Insulin-Like Growth Factor I 75 0.024
441
c HPT073 Hepatitis C Virus 73 0.024
442
PHN003 Phenylketonuria 72 0.024
443
P RSP003 Respiratory Failure 71 0.024
444
SQM006 Squamous Cell Carcinoma 70 0.024
445
P ADN016 Adenocarcinoma 69 0.024
446
P LYN001 Lynch Syndrome 69 0.024
447
c HYP595 Hypertension, Essential 69 0.024
448
LVR012 Liver Cirrhosis 67 0.024
449
CHG001 Chagas Disease 67 0.024
450
VSC007 Vascular Disease 67 0.024
451
c HRD010 Hereditary Spastic Paraplegia 67 0.024
452
ACH004 Achondroplasia 66 0.024
453
ART005 Arteriovenous Malformation 66 0.024
454
OBS002 Obsessive-Compulsive Disorder 66 0.024
455
P ATS007 Autism Spectrum Disorder 65 0.024
456
P AST007 Astrocytoma 65 0.024
457
P AMY004 Amyloidosis 65 0.024
458
P SPN046 Spinal Muscular Atrophy 65 0.024
459
P LNG028 Long Qt Syndrome 64 0.024
460
P CNJ013 Conjunctivitis 64 0.024
461
P THR014 Thrombocytopenia 64 0.024
462
P CRB042 Cerebellar Ataxia 63 0.024
463
P ENC004 Encephalitis 63 0.024
464
P CLD001 Cleidocranial Dysplasia 62 0.024
465
P CRD194 Cardiomyopathy, Familial Hypertrophic 62 0.024
466
c LNG044 Long Qt Syndrome 1 62 0.024
467
GLL008 Gilles De La Tourette Syndrome 62 0.024
468
HYP056 Hypoglycemia 61 0.024
469
P RCK004 Rickets 61 0.024
470
INS001 Insulinoma 61 0.024
471
EYD002 Eye Disease 61 0.024
472
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 60 0.024
473
PLM033 Pulmonary Embolism 60 0.024
474
P DRR001 Diarrhea 60 0.024
475
P BRG001 Brugada Syndrome 59 0.024
476
DPH001 Diphtheria 59 0.024
477
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.024
478
P LKD001 Leukodystrophy 59 0.024
479
P SHR029 Short Syndrome 58 0.024
480
P CTR002 Cataract 58 0.024
481
P MCR010 Microcephaly 58 0.024
482
VLC002 Vlcad Deficiency 58 0.024
483
P UVT001 Uveitis 58 0.024
484
P MTR012 Mitral Valve Disease 58 0.024
485
P AND016 Andersen Syndrome 58 0.024
486
BRN012 Bronchiolitis Obliterans 58 0.024
487
c LNG047 Long Qt Syndrome 2 57 0.024
488
PLM122 Pulmonary Hypertension, Familial Primary, 1, with or Without Hht 57 0.024
489
ART017 Aortic Disease 57 0.024
490
CNS004 Constipation 57 0.024
491
ORL015 Oral Squamous Cell Carcinoma 57 0.024
492
THR024 Thrombosis 57 0.024
493
c ACT210 Acute Respiratory Distress Syndrome 57 0.024
494
P EPS003 Episodic Ataxia 57 0.024
495
ETH011 Ethylmalonic Encephalopathy 56 0.024
496
BRN002 Bronchiolitis 56 0.024
497
TRN015 Transient Cerebral Ischemia 56 0.024
498
P PLY019 Polyneuropathy 56 0.024
499
c MYT020 Myotonic Dystrophy 2 56 0.024
500
MVL001 Mevalonic Aciduria 56 0.024
501
PRS047 Prostatitis 56 0.024
502
LKN001 Leukoencephalopathy with Vanishing White Matter 56 0.024
503
DBT010 Diabetic Neuropathy 55 0.024
504
c MSC124 Muscular Dystrophy, Congenital 55 0.024
505
P LPD010 Lipodystrophy 55 0.024
506
P TMT001 Timothy Syndrome 55 0.024
507
P HYP076 Hyperthyroidism 55 0.024
508
P CDS001 Cadasil 55 0.024
509
SPN027 Spinal Stenosis 55 0.024
510
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.024
511
P CNG001 Congenital Myasthenic Syndrome 55 0.024
512
c THR092 Thrombophilia Due to Thrombin Defect 54 0.024
513
P THY032 Thyroiditis 54 0.024
514
P MCR129 Microvascular Complications of Diabetes 1 54 0.024
515
P END033 Endocarditis 54 0.024
516
c ART101 Aortic Valve Disease 2 53 0.024
517
P JRV003 Jervell and Lange-Nielsen Syndrome 53 0.024
518
DMY004 Demyelinating Disease 53 0.024
519
FDL002 Food Allergy 53 0.024
520
PRT014 Protein S Deficiency 53 0.024
521
HYP080 Hypogonadism 53 0.024
522
SLP005 Sleep Disorder 53 0.024
523
P HYP024 Hypoparathyroidism 53 0.024
524
RTN018 Retinal Disease 53 0.024
525
LYM019 Lymphosarcoma 53 0.024
526
CHL014 Cholera 53 0.024
527
PRV006 Pervasive Developmental Disorder 53 0.024
528
FNC009 Fanconi-Bickel Syndrome 52 0.024
529
PRT011 Protein C Deficiency 52 0.024
530
P SPS003 Spastic Diplegia 52 0.024
531
CRC006 Carcinoid Syndrome 52 0.024
532
NRP015 Neuropathy, Congenital Hypomyelinating 52 0.024
533
DBT004 Diabetic Polyneuropathy 52 0.024
534
P STR020 Strabismus 51 0.024
535
VSC006 Vascular Cancer 51 0.024
536
c EPS035 Episodic Ataxia, Type 2 51 0.024
537
HYP005 Hypokalemia 51 0.024
538
c LNG050 Long Qt Syndrome 5 51 0.024
539
CRN030 Coronary Stenosis 51 0.024
540
c GLY019 Glycogen Storage Disease Iiia 50 0.024
541
c ART115 Aortic Valve Disease 1 50 0.024
542
ASP001 Asperger Syndrome 50 0.024
543
CLN015 Colon Adenocarcinoma 50 0.024
544
P CHR345 Chronic Pain 50 0.024
545
RSS002 Roussy-Levy Syndrome 50 0.024
546
PLC005 Placental Insufficiency 50 0.024
547
STR081 Stormorken Syndrome 49 0.024
548
c LNG051 Long Qt Syndrome 6 49 0.024
549
P GNT008 Giant Cell Tumor 49 0.024
550
MSC072 Muscle Cancer 49 0.024
551
PRP016 Paraplegia 49 0.024
552
c SCN036 Secondary Progressive Multiple Sclerosis 49 0.024
553
MSC006 Muscle Glycogenosis 49 0.024
554
SRT004 Serotonin Syndrome 49 0.024
555
ATR057 Atrioventricular Block 49 0.024
556
c CHR532 Charcot-Marie-Tooth Disease, Type 2e 49 0.024
557
ILT001 Ileitis 49 0.024
558
c LNG092 Long Qt Syndrome-3 49 0.024
559
c CNG464 Congenital Myopathy 49 0.024
560
P HYP071 Hypersensitivity Reaction Type Ii Disease 49 0.024
561
HYP141 Hyperphenylalaninemia 49 0.024
562
LMB062 Limb Ischemia 48 0.024
563
BCT015 Bacteremia 48 0.024
564
ACT017 Acute Chest Syndrome 48 0.024
565
CNN003 Conn's Syndrome 48 0.024
566
DNN001 Danon Disease 48 0.024
567
HYP063 Hypersplenism 48 0.024
568
MTB004 Metabolic Acidosis 48 0.024
569
FSC004 Fasciitis 48 0.024
570
NPH003 Nephrocalcinosis 48 0.024
571
CCN002 Cocaine Abuse 48 0.024
572
TCD001 Tic Disorder 48 0.024
573
DYS073 Dysphagia 48 0.024
574
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 48 0.024
575
MTC057 Mitochondrial Recessive Ataxia Syndrome 48 0.024
576
P RNL017 Renal Oncocytoma 47 0.024
577
c MSC120 Muscular Dystrophy, Limb-Girdle, Type 2c 47 0.024
578
VND001 Vein Disease 47 0.024
579
PRT030 Parathyroid Gland Disease 47 0.024
580
SBP001 Subependymal Giant Cell Astrocytoma 47 0.024
581
MNN009 Meningoencephalitis 47 0.024
582
HND002 Hand, Foot and Mouth Disease 47 0.024
583
SDD007 Sudden Cardiac Death 47 0.024
584
UPP004 Upper Respiratory Tract Disease 46 0.024
585
c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 46 0.024
586
PRP021 Peripheral Nervous System Neoplasm 46 0.024
587
HRT007 Heart Cancer 46 0.024
588
BLD053 Blood Platelet Disease 46 0.024
589
HPT014 Hepatorenal Syndrome 46 0.024
590
P BTH005 Bethlem Myopathy 1 46 0.024
591
P HRD021 Hereditary Sensory Neuropathy 46 0.024
592
NCR007 Necrotizing Fasciitis 46 0.024
593
P HYP366 Hyperkalemic Periodic Paralysis, Type 2 46 0.024
594
P PSD015 Pseudohypoparathyroidism 46 0.024
595
P PRM108 Primary Progressive Multiple Sclerosis 46 0.024
596
c MCR113 Microvascular Complications of Diabetes 3 45 0.024
597
HPR003 Heparin-Induced Thrombocytopenia 45 0.024
598
SNS003 Sensory Peripheral Neuropathy 45 0.024
599
P CRV039 Cervicitis 45 0.024
600
KRT010 Kartagener Syndrome 45 0.024
601
MSC051 Muscular Dystrophy, Rigid Spine, 1 45 0.024
602
c LNG056 Long Qt Syndrome 12 45 0.024
603
HRT015 Heritable Pulmonary Arterial Hypertension 45 0.024
604
VTM002 Vitamin B12 Deficiency 44 0.024
605
c SHR030 Short Qt Syndrome 44 0.024
606
CHR056 Chronic Tic Disorder 44 0.024
607
MYC005 Myocardial Stunning 44 0.024
608
P ULL002 Ullrich Congenital Muscular Dystrophy 1 44 0.024
609
SPS007 Spastic Cerebral Palsy 44 0.024
610
CRD118 Cardiovascular Cancer 44 0.024
611
c LNG057 Long Qt Syndrome 13 44 0.024
612
c CNG012 Congenital Generalized Lipodystrophy 44 0.024
613
c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 44 0.024
614
LFT009 Left Ventricular Outflow Tract Obstruction 43 0.024
615
ANX004 Anoxia 43 0.024
616
RNL097 Renal Artery Disease 43 0.024
617
LKM006 Leukomalacia 43 0.024
618
c MSC123 Muscular Dystrophy, Limb-Girdle, Type 2d 43 0.024
619
SNS023 Sensory System Cancer 43 0.024
620
c NRD014 Neurodegeneration with Brain Iron Accumulation 4 42 0.024
621
END072 Endotheliitis 42 0.024
622
SPS057 Spasticity 42 0.024
623
GLC008 Glucose Metabolism Disease 42 0.024
624
c FML191 Familial Long Qt Syndrome 42 0.024
625
VGN023 Vaginitis 42 0.024
626
SXL003 Sexual Disorder 42 0.024
627
P MYP087 Myopathy, Tubular Aggregate, 1 42 0.024
628
P BLD051 Blood Coagulation Disease 42 0.024
629
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 41 0.024
630
VNT011 Ventricular Fibrillation, Familial, 1 41 0.024
631
PRM025 Primary Bacterial Infectious Disease 41 0.024
632
P CHR102 Charcot-Marie-Tooth Neuropathy 41 0.024
633
PHC013 Phaeochromocytoma 41 0.024
634
CNT060 Central Serous Chorioretinopathy 41 0.024
635
CNT025 Central Pontine Myelinolysis 41 0.024
636
CRB047 Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 41 0.024
637
SPS019 Spastic Paraparesis 41 0.024
638
DST004 Distal Muscular Dystrophy 40 0.024
639
P BLD124 Bleeding Disorder, Platelet-Type, 11 40 0.024
640
c MYS052 Myasthenic Syndrome, Congenital, 10 40 0.024
641
c PRM212 Primary Microcephaly 40 0.024
642
KWS001 Kwashiorkor 40 0.024
643
HRT012 Heart Valve Disease 40 0.024
644
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 40 0.024
645
ADT003 Auditory System Disease 40 0.024
646
CPT003 Cpt Deficiency, Hepatic, Type Ia 40 0.024
647
CHN004 Chondroblastoma 40 0.024
648
c PLN018 Peeling Skin Syndrome 2 40 0.024
649
ATX003 Ataxia with Isolated Vitamin E Deficiency 40 0.024
650
c HRD088 Hereditary Neuropathies 40 0.024
651
PYM001 Pyomyositis 40 0.024
652
c MYP082 Myopathy, Myofibrillar, 2 39 0.024
653
HYP264 Hypertonia 39 0.024
654
CPT004 Cpt Deficiency, Hepatic, Type Ii 39 0.024
655
c PRG001 Progressive Muscular Atrophy 39 0.024
656
c PRM225 Primary Thrombocytopenia 39 0.024
657
c AMY009 Amyloidosis Aa 39 0.024
658
EST003 Eastern Equine Encephalitis 39 0.024
659
c MSC115 Muscular Dystrophy, Limb-Girdle, Type 1a 38 0.024
660
ALC010 Alcoholic Cardiomyopathy 38 0.024
661
HYP070 Hyperpituitarism 38 0.024
662
MYP094 Myopathy, Spheroid Body 38 0.024
663
SPC003 Specific Developmental Disorder 38 0.024
664
ACT167 Acute Generalized Exanthematous Pustulosis 38 0.024
665
c MSC112 Muscular Dystrophy, Limb-Girdle, Type 1b 38 0.024
666
c MSC050 Muscular Dystrophy, Congenital, 1b 37 0.024
667
BNR001 Bone Remodeling Disease 37 0.024
668
BLD054 Blood Protein Disease 37 0.024
669
c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 37 0.024
670
c CNG031 Congenital Nervous System Abnormality 37 0.024
671
MTR007 Motor Peripheral Neuropathy 37 0.024
672
FNC002 Functional Diarrhea 37 0.024
673
HYP064 Hypogonadotropism 37 0.024
674
c MYP079 Myopathy, Myofibrillar, 5 37 0.024
675
c MSC059 Muscular Dystrophy, Limb-Girdle, Type 2l 37 0.024
676
MSC028 Muscular Dystrophy, Congenital, Megaconial Type 36 0.024
677
OLG001 Oligospermia 36 0.024
678
CWC001 Cowchock Syndrome 36 0.024
679
TTR016 Tetra-Amelia Syndrome 36 0.024
680
CLP001 Calpainopathy 36 0.024
681
PRS063 Paresthesia 36 0.024
682
OBS003 Obsessive-Compulsive Personality Disorder 36 0.024
683
c MSC117 Muscular Dystrophy, Limb-Girdle, Type 1e 36 0.024
684
c MSC122 Muscular Dystrophy, Limb-Girdle, Type 2g 36 0.024
685
PRX014 Proximal Spinal Muscular Atrophy 36 0.024
686
URT014 Ureterolithiasis 36 0.024
687
c DYS119 Dystonia 9 36 0.024
688
P MYS053 Myasthenic Syndrome, Congenital, 14, with Tubular Aggregates 36 0.024
689
MYT011 Myotonia 36 0.024
690
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 35 0.024
691
c THR037 Thrombocytopenia 2 35 0.024
692
c MLG132 Malignant Hyperthermia Susceptibility 1 35 0.024
693
LYM005 Lymphocele 35 0.024
694
HMC014 Homocysteinemia 35 0.024
695
HYD001 Hydranencephaly 35 0.024
696
PHT003 Phototoxic Dermatitis 35 0.024
697
P MYG005 Myoglobinuria 35 0.024
698
ADP007 Adie Pupil 34 0.024
699
c PLN017 Peeling Skin Syndrome 1 34 0.024
700
c MYP078 Myopathy, Myofibrillar, 3 34 0.024
701
CNZ001 Coenzyme Q10 Deficiency Disease 34 0.024
702
PLS010 Plasma Protein Metabolism Disease 34 0.024
703
CHR079 Choroid Disease 34 0.024
704
P CRB059 Cerebellar Degeneration 34 0.024
705
c CRN159 Craniosynostosis, Type 1 33 0.024
706
P MRN003 Marinesco-Sjogren Syndrome 33 0.024
707
SWL001 Swallowing Disorders 33 0.024
708
c INF041 Infantile-Onset Ascending Hereditary Spastic Paralysis 33 0.024
709
ACD004 Acdc 33 0.024
710
DYS030 Dysferlinopathy 33 0.024
711
HRD054 Hereditary Neuropathy with Liability to Pressure Palsy 33 0.024
712
c DNT021 Dent Disease 2 33 0.024
713
c NRP014 Neuropathy, Hereditary Sensory, with Spastic Paraplegia 32 0.024
714
c NML015 Nemaline Myopathy 3, Autosomal Dominant or Recessive 32 0.024
715
HRF001 Hair Follicle Neoplasm 32 0.024
716
c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 32 0.024
717
P END046 Endometritis 32 0.024
718
P HRT017 Heart Tumor 32 0.024
719
c MSC062 Muscular Dystrophy, Limb-Girdle, Type 2q 32 0.024
720
c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 32 0.024
721
c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 32 0.024
722
NNK001 Nonaka Myopathy 31 0.024
723
c CNG112 Congenital Muscular Dystrophy Type 1a 31 0.024
724
c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 31 0.024
725
DYS001 Dyskinetic Cerebral Palsy 31 0.024
726
c CNG204 Congenital Disorder of Glycosylation, Type Iih 31 0.024
727
FRT005 Fruit Allergy 31 0.024
728
NRV004 Nerve Compression Syndrome 31 0.024
729
c AMY062 Amyotrophic Lateral Sclerosis 12 30 0.024
730
MDY005 Mody, Type I 30 0.024
731
SPR016 Spermatic Cord Torsion 30 0.024
732
VSC008 Vascular Hemostatic Disease 30 0.024
733
PRN032 Paraneoplastic Cerebellar Degeneration 30 0.024
734
c PRN053 Porencephaly 1 30 0.024
735
c CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 30 0.024
736
c CNT068 Central Pain Syndrome 29 0.024
737
SCP009 Scapuloperoneal Myopathy, X-Linked Dominant 29 0.024
738
PND004 Pandas 29 0.024
739
CNZ006 Coenzyme Q10 Deficiency, Primary, 1 28 0.024
740
MCR064 Microcephaly, Seizures, and Developmental Delay 28 0.024
741
c PLM121 Pulmonary Hypertension, Primary, 4 28 0.024
742
c AMY063 Amyotrophic Lateral Sclerosis 20 28 0.024
743
NRM016 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 28 0.024
744
c PLM128 Pulmonary Hypertension, Primary, 2 28 0.024
745
c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28 0.024
746
c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 28 0.024
747
c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 27 0.024
748
WRT002 Writing Disorder 27 0.024
749
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27 0.024
750
c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 27 0.024
751
CRB031 Cerebral Arterial Disease 27 0.024
752
EHL042 Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 27 0.024
753
c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 27 0.024
754
WLN001 Welander Distal Myopathy 27 0.024
755
c ATS247 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c 27 0.024
756
c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27 0.024
757
c THR102 Thrombocytopenia 5 27 0.024
758
c STR092 Striatal Degeneration, Autosomal Dominant 2 27 0.024
759
AXL003 Axial Osteomalacia 27 0.024
760
c EPL145 Epilepsy, Progressive Myoclonic 6 27 0.024
761
c MYP097 Myopathy with Lactic Acidosis, Hereditary 27 0.024
762
MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 27 0.024
763
PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 27 0.024
764
c CNG187 Congenital Disorder of Glycosylation, Type Iid 26 0.024
765
c FML294 Familial Short Qt Syndrome 26 0.024
766
c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 26 0.024
767
c MYP080 Myopathy, Myofibrillar, 4 26 0.024
768
STY001 Satoyoshi Syndrome 26 0.024
769
c EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 26 0.024
770
c NML009 Nemaline Myopathy 2, Autosomal Recessive 26 0.024
771
c SPS013 Spastic Paraplegia 8 26 0.024
772
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 26 0.024
773
YNG002 Young Syndrome 26 0.024
774
c HRD138 Hereditary Motor and Sensory Neuropathy V 26 0.024
775
MTC062 Mitochondrial Dna Depletion Syndrome 2 25 0.024
776
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 25 0.024
777
c CNG383 Congenital Disorder of Glycosylation, Type Iik 25 0.024
778
c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 25 0.024
779
c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 25 0.024
780
P MYP095 Myopathy, Distal, 4 25 0.024
781
c ATM007 Autoimmune Disease of Central Nervous System 25 0.024
782
c MYS014 Miyoshi Muscular Dystrophy 3 25 0.024
783
c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 25 0.024
784
c INT144 Intermediate Charcot-Marie-Tooth Neuropathy 25 0.024
785
ATM052 Autoimmune Disease 1 25 0.024
786
c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 25 0.024
787
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 24 0.024
788
c LTH027 Lethal Congenital Contracture Syndrome 5 24 0.024
789
c MYP081 Myopathy, Myofibrillar, 6 24 0.024
790
KHL001 Kohler's Disease 24 0.024
791
PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 24 0.024
792
c EMR012 Emery-Dreifuss Muscular Dystrophy 3, Ar 23 0.024
793
VBR003 Vibrio Vulnificus Infection 23 0.024
794
CHL045 Choline Deficiency Disease 23 0.024
795
c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 23 0.024
796
c EPP015 Epiphyseal Dysplasia, Multiple, 3 23 0.024
797
c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 23 0.024
798
SPN303 Spinal Muscular Atrophy, Distal, Congenital Nonprogressive 23 0.024
799
c SPS020 Spastic Paraplegia 1 23 0.024
800
c MYP106 Myopathy, Myosin Storage, Autosomal Recessive 23 0.024
801
c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 23 0.024
802
TCK002 Tick Paralysis 23 0.024
803
MTC078 Mitochondrial Dna Depletion Syndrome 11 23 0.024
804
MYS045 Myasthenia, Congenital, 12, with Tubular Aggregates 23 0.024
805
P MSC094 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 11 23 0.024
806
c RPP006 Rippling Muscle Disease 2 23 0.024
807
OCL063 Oculopharyngodistal Myopathy 23 0.024
808
INC016 Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 1 23 0.024
809
CNZ004 Coenzyme Q10 Deficiency, Primary, 3 22 0.024
810
SNG003 Single Ventricular Heart 22 0.024
811
MYS021 Myosclerosis, Congenital 22 0.024
812
c PRK071 Parkinson Disease 14, Autosomal Recessive 22 0.024
813
c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 22 0.024
814
P SPS154 Spastic Paralysis, Infantile Onset Ascending 22 0.024
815
MSC052 Muscular Dystrophy, Congenital, Due to Itga7 Deficiency 22 0.024
816
P CHL106 Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter 22 0.024
817
c MNT145 Mental Retardation, Autosomal Recessive 5 22 0.024
818
ATR024 Atrial Fibrillation and Stroke 22 0.024
819
MYP092 Myopathy, Early-Onset, with Fatal Cardiomyopathy 21 0.024
820
CMB014 Combined Oxidative Phosphorylation Deficiency 3 21 0.024
821
MND006 Mondor Disease 21 0.024
822
c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 21 0.024
823
PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 21 0.024
824
PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 21 0.024
825
CMB064 Combined Oxidative Phosphorylation Deficiency 24 21 0.024
826
MTC025 Mitochondrial Myopathy with Diabetes 21 0.024
827
INC015 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 21 0.024
828
c CNG386 Congenital Disorder of Glycosylation, Type Iu 21 0.024
829
HRD162 Hereditary Motor and Sensory Neuropathy, Okinawa Type 21 0.024
830
c RNL016 Renal Infectious Disease 20 0.024
831
c MYP088 Myopathy, Tubular Aggregate, 2 20 0.024
832
c MYP096 Myopathy, Centronuclear, 3 20 0.024
833
c MYP112 Myopathy, Distal, 3 20 0.024
834
MYP035 Myopathy, Distal, with Anterior Tibial Onset 20 0.024
835
RDC011 Reducing Body Myopathy, X-Linked 1a, Severe, Infantile or Early Childhood Onset 19 0.024
836
SPN092 Spinal Shock 19 0.024
837
NCT013 N-Acetylaspartate Deficiency 19 0.024
838
c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 19 0.024
839
SPN267 Spinal Muscular Atrophy, Jokela Type 19 0.024
840
PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 19 0.024
841
GLT030 Gluten Allergy 19 0.024
842
MTC116 Mitochondrial Myopathy, Infantile, Transient 19 0.024
843
INC017 Inclusion Body Myopathy Wtih Early-Onset Paget Disease Without Frontotemporal Dementia 3 18 0.024
844
MYP086 Myopathy with Extrapyramidal Signs 18 0.024
845
MYP083 Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related 18 0.024
846
c CRN173 Coronary Heart Disease 8 18 0.024
847
c MLT093 Multiple Sclerosis 2 18 0.024
848
PYR009 Pyridoxine Deficiency Anemia 18 0.024
849
MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 17 0.024
850
HMR014 Hemorrhagic Shock and Encephalopathy Syndrome 17 0.024
851
c SPS064 Spastic Paraplegia 45 17 0.024
852
c ADL079 Adult Heart Tumor 16 0.024
853
MYP071 Myopathy Due to Myoadenylate Deaminase Deficiency 16 0.024
854
LTH004 Lathyrism 16 0.024
855
c MLT095 Multiple Sclerosis 4 16 0.024
856
c MYP105 Myopathy, Myosin Storage, Autosomal Dominant 16 0.024
857
ATM053 Autoimmune Disease 2 16 0.024
858
BNM008 Bone Mineral Density, Low 16 0.024
859
c SPS173 Spastic Paraplegia 43 16 0.024
860
MSC029 Muscular Dystrophy, Congenital, Merosin-Positive 15 0.024
861
ATM054 Autoimmune Disease 3 15 0.024
862
ATM055 Autoimmune Disease 4 15 0.024
863
c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 15 0.024
864
HRT029 Heart Tumor of the Child 15 0.024
865
CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 14 0.024
866
c LMB068 Limb-Girdle Muscular Dystrophy 2z 14 0.024
867
INC009 Inclusion Body Myopathy, Autosomal Recessive 14 0.024
868
c LPR019 Lipe-Related Familial Partial Lipodystrophy 13 0.024
869
RDC012 Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset 13 0.024
870
PRS059 Prostaglandin-Endoperoxide Synthase Deficiency 12 0.024
871
c MYP118 Myopathy, Myofibrillar, 8 12 0.024
872
SGM003 Segmentation Syndrome 1 12 0.024
873
MYP067 Myopathy, Distal, Tateyama Type 12 0.024
874
RRN002 Rare Intellectual Disability Without Developmental Anomaly 11 0.024
875
c MYG006 Myoglobinuria, Autosomal Dominant 11 0.024
876
HRD059 Hereditary Peripheral Nervous Disorder 11 0.024
877
PRT056 Protein R Deficiency 10 0.024
878
MYP113 Myopathy, Distal, with Early Respiratory Failure, Autosomal Dominant 9 0.024
879
P NRP005 Neuropathy Sensory Spastic Paraplegia 8 0.024
880
P HYP187 Hypertryptophanemia 8 0.024
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