Search results for Coenzyme A

503 hits were found for Coenzyme A

# Family MCID Name MIFTS Score
1
ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 59 4.159
2
MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 27 3.967
3
MTH025 Methylmalonyl-Coenzyme a Mutase Deficiency 11 3.263
4
ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 52 3.253
5
LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59 3.242
6
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60 3.241
7
MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 36 2.642
8
ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 43 2.624
9
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 57 2.616
10
P GLT035 Glutaric Acidemia I 40 2.614
11
3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 41 2.610
12
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52 2.607
13
ALP077 Alpha-Methylacetoacetic Aciduria 41 1.920
14
MLN011 Malonyl-Coa Decarboxylase Deficiency 32 1.851
15
3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 42 1.849
16
ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 27 1.847
17
2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 32 1.846
18
SCC007 Succinate-Coa Ligase Deficiency 16 1.837
19
P HPT021 Hepatitis 75 0.295
20
P BRS047 Breast Cancer 100 0.256
21
c BLD140 Blood Group, I System 37 0.241
22
PRS047 Prostatitis 59 0.228
23
P LKM002 Leukemia 75 0.223
24
END072 Endotheliitis 46 0.218
25
P ADN016 Adenocarcinoma 71 0.217
26
P MYP004 Myopathy 69 0.217
27
P LYM118 Lymphoma 71 0.212
28
AGN016 Aging 65 0.195
29
P PNC044 Pancreatitis 64 0.193
30
P DBT009 Diabetes Mellitus 72 0.192
31
P ENC018 Encephalopathy 58 0.189
32
P PRS040 Prostate Cancer 88 0.182
33
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.180
34
P NRP001 Neuropathy 63 0.179
35
NRN002 Neuronitis 43 0.175
36
CNZ001 Coenzyme Q10 Deficiency Disease 34 0.175
37
P HRT032 Heart Disease 80 0.172
38
ISC004 Ischemia 66 0.170
39
ART140 Arteries, Anomalies of 51 0.169
40
CRB009 Cerebritis 41 0.169
41
P NRV007 Nervous System Disease 75 0.169
42
P ALZ034 Alzheimer Disease 95 0.167
43
P CRN018 Coronary Artery Anomaly 69 0.166
44
P ART022 Arthritis 77 0.164
45
P THY032 Thyroiditis 56 0.162
46
P HPT023 Hepatocellular Carcinoma 94 0.160
47
P INF032 Infertility 59 0.157
48
P MYC007 Myocardial Infarction 81 0.157
49
MLN008 Melanoma 72 0.157
50
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.156
51
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.155
52
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.155
53
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.155
54
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.155
55
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.155
56
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.155
57
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.155
58
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.155
59
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.155
60
ANX010 Anxiety 72 0.153
61
P LNG032 Lung Cancer 99 0.153
62
MNT002 Mental Depression 60 0.152
63
P KDN018 Kidney Disease 69 0.151
64
NRM005 Neuromuscular Disease 60 0.150
65
THR024 Thrombosis 61 0.146
66
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.144
67
P CLR023 Colorectal Cancer 98 0.144
68
P SCH015 Schizophrenia 71 0.143
69
P MYC084 Mycobacterium Tuberculosis 1 69 0.142
70
CNG034 Congestive Heart Failure 74 0.141
71
RTN023 Retinitis 52 0.140
72
DMN002 Dementia 68 0.140
73
c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 47 0.139
74
VSC007 Vascular Disease 71 0.137
75
ADN018 Adenoma 63 0.137
76
SKN016 Skin Disease 68 0.134
77
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 40 0.133
78
P CRN300 Coronary Heart Disease 1 57 0.133
79
P PNM007 Pneumonia 70 0.132
80
MVM001 Movement Disease 40 0.132
81
P PRK057 Parkinson Disease, Late-Onset 78 0.132
82
P MSC005 Muscular Dystrophy 66 0.132
83
ACR006 Aceruloplasminemia 65 0.130
84
P LVR013 Liver Disease 76 0.130
85
SKN027 Skin Conditions 48 0.130
86
HDC001 Headache 55 0.129
87
BSL008 Basal Ganglia Disease 44 0.128
88
MSC033 Muscle Disorders 53 0.127
89
GLC008 Glucose Metabolism Disease 38 0.127
90
MSC004 Muscle Tissue Disease 39 0.126
91
LPD008 Lipid Metabolism Disorder 59 0.125
92
GST053 Gastric Cancer 84 0.124
93
RNL114 Renal Cell Carcinoma, Nonpapillary 68 0.123
94
URN009 Urinary System Disease 58 0.122
95
LNG099 Lung Disease 67 0.122
96
VRL011 Viral Infectious Disease 64 0.121
97
ISC006 Ischemic Heart Disease 73 0.119
98
c HPT001 Hepatitis C 73 0.119
99
P ATX024 Ataxia-Oculomotor Apraxia 3 47 0.117
100
ATM095 Autoimmune Disease 66 0.116
101
IMM136 Immune System Disease 57 0.116
102
P EPL164 Epilepsy 70 0.116
103
P DRR001 Diarrhea 60 0.114
104
P MLT020 Multiple Sclerosis 85 0.114
105
HYP266 Hypoxia 61 0.113
106
c CNT035 Central Nervous System Disease 65 0.112
107
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89 0.112
108
RSP006 Respiratory System Disease 63 0.111
109
P ART021 Arteriosclerosis 62 0.110
110
P PNC035 Pancreatic Cancer 89 0.110
111
MDD011 Mood Disorder 64 0.109
112
P ANR048 Aniridia 1 68 0.109
113
P ENC011 Encephalomyopathy 40 0.109
114
PSY004 Psychotic Disorder 72 0.108
115
CYS001 Cystic Fibrosis 85 0.107
116
P BPL003 Bipolar Disorder 61 0.105
117
c CHR089 Chronic Kidney Failure 72 0.105
118
BRS051 Breast Disease 67 0.104
119
CNZ006 Coenzyme Q10 Deficiency, Primary, 1 25 0.103
120
c SML038 Small Cell Cancer of the Lung 67 0.102
121
P GLM045 Glioma 61 0.102
122
HYP056 Hypoglycemia 62 0.101
123
P HYP607 Hypercholesterolemia, Familial 81 0.101
124
c HPT073 Hepatitis C Virus 73 0.101
125
PRT036 Peritonitis 67 0.100
126
RHM027 Rheumatic Disease 62 0.099
127
MYL009 Myelodysplastic Syndrome 75 0.098
128
MSC157 Muscular Dystrophy, Duchenne Type 74 0.098
129
P DLT002 Dilated Cardiomyopathy 76 0.098
130
SPS003 Spastic Diplegia 55 0.097
131
c BRN108 Branchiootic Syndrome 1 47 0.097
132
MTC004 Mitochondrial Encephalomyopathy 42 0.097
133
P THR014 Thrombocytopenia 65 0.096
134
BRN106 Burns 57 0.096
135
P PSR002 Psoriasis 65 0.096
136
c HPT016 Hepatitis B 68 0.095
137
ENT004 Enthesopathy 38 0.095
138
P CLL015 Collagen Disease 53 0.095
139
NRT004 Neuritis 55 0.095
140
CNN005 Connective Tissue Disease 65 0.094
141
BCK006 Back Pain 46 0.094
142
P NRB001 Neuroblastoma 73 0.093
143
P OST002 Osteoporosis 75 0.092
144
P PLY019 Polyneuropathy 58 0.091
145
VSC011 Vasculitis 66 0.091
146
END030 End Stage Renal Failure 59 0.091
147
P PLY011 Polycystic Ovary Syndrome 65 0.090
148
GLB002 Glioblastoma 74 0.090
149
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.090
150
MTH009 Mouth Disease 64 0.090
151
BRC012 Brucellosis 71 0.089
152
P CTR002 Cataract 60 0.089
153
TTH006 Tooth Disease 54 0.089
154
CNZ005 Coenzyme Q10 Deficiency, Primary, 4 23 0.089
155
P HYP061 Hypertrophic Cardiomyopathy 65 0.089
156
LYM019 Lymphosarcoma 58 0.088
157
ANR038 Anorexia Nervosa 1 21 0.088
158
BLD137 Blood Group--Ahonen 17 0.088
159
CHR066 Chronic Fatigue Syndrome 67 0.088
160
BRN071 Brain Injury 54 0.088
161
P HYP086 Hypothyroidism 62 0.088
162
MLN007 Male Infertility 53 0.088
163
c AMY091 Amyotrophic Lateral Sclerosis 1 87 0.088
164
P LTR001 Lateral Sclerosis 58 0.088
165
KRN002 Kearns-Sayre Syndrome 59 0.087
166
P ATR011 Atrial Fibrillation 68 0.087
167
c HYP595 Hypertension, Essential 78 0.087
168
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.086
169
P PLM037 Pulmonary Hypertension 79 0.086
170
c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 42 0.086
171
NSP002 Nasopharyngitis 46 0.086
172
P MYP006 Myopia 56 0.086
173
P HYP265 Hypotonia 40 0.086
174
P THL005 Thalassemia 65 0.085
175
P HNT016 Huntington Disease 78 0.085
176
PST011 Pustulosis of Palm and Sole 47 0.085
177
P GST044 Gastritis 61 0.084
178
P TRM003 Tremor 54 0.083
179
APR001 Apraxia 52 0.083
180
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 53 0.083
181
P CNJ013 Conjunctivitis 67 0.083
182
SLP005 Sleep Disorder 59 0.082
183
P SPR120 Supranuclear Palsy, Progressive, 1 70 0.082
184
PRP019 Peripheral Nervous System Disease 53 0.082
185
CNS004 Constipation 57 0.082
186
P EXN002 Exanthem 62 0.081
187
P RNG031 Ring Chromosome Y Syndrome 29 0.081
188
CNZ008 Coenzyme Q10 Deficiency, Primary, 6 19 0.081
189
P ANT006 Antiphospholipid Syndrome 59 0.081
190
P CHR071 Charcot-Marie-Tooth Disease 67 0.081
191
P AST007 Astrocytoma 66 0.080
192
P NPH012 Nephrotic Syndrome 60 0.080
193
MSC152 Muscular Dystrophy, Becker Type 64 0.080
194
P SLP006 Sleep Apnea 65 0.080
195
P INF037 Inflammatory Bowel Disease 52 0.080
196
STM007 Stomatitis 52 0.080
197
CNZ010 Coenzyme Q10 Deficiency, Primary, 7 21 0.079
198
CNZ004 Coenzyme Q10 Deficiency, Primary, 3 15 0.079
199
MGR028 Migraine with or Without Aura 1 55 0.079
200
P ATS308 Autosomal Dominant Cerebellar Ataxia 47 0.078
201
MTB007 Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 39 0.078
202
P OVR049 Ovarian Disease 58 0.078
203
P OVR046 Ovarian Cyst 52 0.078
204
TRM010 Traumatic Brain Injury 54 0.077
205
P ECL001 Eclampsia 57 0.077
206
CHL123 Chlamydia 64 0.077
207
CRD119 Cardiac Arrest 63 0.076
208
GND003 Gonadal Disease 32 0.076
209
CNZ009 Coenzyme Q10 Deficiency, Primary, 5 19 0.076
210
c PRC016 Pre-Eclampsia 65 0.075
211
P MYS005 Myositis 63 0.075
212
EWN002 Ewing's Family of Tumors 49 0.074
213
P RTN008 Retinitis Pigmentosa 81 0.074
214
CRN031 Cranial Nerve Disease 45 0.074
215
SPP011 Suppression of Tumorigenicity 12 41 0.074
216
P MCR115 Microvascular Complications of Diabetes 5 66 0.074
217
PLC008 Placenta Disease 48 0.073
218
MTH078 Methylmalonic Aciduria, Cblb Type 56 0.073
219
APN008 Apnea, Obstructive Sleep 67 0.072
220
P CHR345 Chronic Pain 52 0.072
221
BNM029 Bone Mineral Density Quantitative Trait Locus 15 39 0.072
222
c LBR014 Leber Congenital Amaurosis 4 48 0.071
223
BNM022 Bone Mineral Density Quantitative Trait Locus 8 32 0.071
224
KRT006 Keratoconjunctivitis 56 0.071
225
HYP080 Hypogonadism 54 0.071
226
BNF002 Bone Fracture 56 0.071
227
OCL006 Ocular Hypertension 51 0.071
228
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.071
229
ALP046 Alport Syndrome, X-Linked 74 0.071
230
P ATT013 Attention Deficit-Hyperactivity Disorder 67 0.071
231
DWN001 Down Syndrome 70 0.070
232
c MCL042 Macular Degeneration, Age-Related, 1 79 0.070
233
LGH007 Leigh Syndrome 68 0.070
234
HYP060 Hyperinsulinism 56 0.070
235
MLT157 Multiple System Atrophy 1 65 0.070
236
P DBT085 Diabetes Mellitus, Insulin-Dependent 69 0.069
237
c ACT027 Acute Pancreatitis 61 0.069
238
PHN003 Phenylketonuria 73 0.069
239
MTC007 Mitochondrial Complex I Deficiency 56 0.069
240
P HYP750 Hypertriglyceridemia, Familial 55 0.069
241
P RSP003 Respiratory Failure 71 0.069
242
P LMB006 Limb-Girdle Muscular Dystrophy 55 0.069
243
c HYP555 Hypertriglyceridemia, Transient Infantile 34 0.069
244
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.069
245
c CRD187 Cardiomyopathy, Dilated, 3b 46 0.069
246
P TBR001 Tuberous Sclerosis 69 0.068
247
c PLM164 Pulmonary Hypertension, Primary, 1 67 0.068
248
PNC034 Pancreas Disease 59 0.068
249
P LCT001 Lactic Acidosis 51 0.067
250
SPN186 Spinal Cord Injury 67 0.067
251
P GRV001 Graves' Disease 62 0.067
252
P HYP024 Hypoparathyroidism 55 0.067
253
MTC069 Mitochondrial Disorders 49 0.067
254
P OPN001 Open-Angle Glaucoma 51 0.067
255
MTR014 Motor Neuron Disease 62 0.066
256
MSC012 Muscular Dystrophy, Duchenne and Becker Type 35 0.066
257
P RTN016 Retinal Degeneration 56 0.066
258
P DRM010 Dermatomyositis 65 0.066
259
WRN005 Wrinkles 41 0.065
260
HDN002 Head Injury 48 0.065
261
CHL068 Cholestasis 60 0.065
262
ATR076 Atrophic Muscular Disease 6 0.065
263
SDD001 Sudden Infant Death Syndrome 61 0.065
264
MRB003 Morbid Obesity 61 0.065
265
c TRC078 Trichohepatoenteric Syndrome 2 34 0.065
266
OCL069 Ocular Motor Apraxia 45 0.065
267
c MYT029 Myotonia Congenita, Autosomal Recessive 32 0.065
268
APH001 Aphthous Stomatitis 64 0.065
269
SPN041 Spinal Cord Disease 54 0.065
270
P FCL005 Focal Segmental Glomerulosclerosis 60 0.064
271
RTN018 Retinal Disease 56 0.064
272
c FCL025 Focal Segmental Glomerulosclerosis 1 59 0.064
273
FTT001 Fatty Liver Disease 62 0.064
274
DRY001 Dry Eye Syndrome 51 0.063
275
KRT001 Keratoconjunctivitis Sicca 63 0.063
276
c BLM008 Bulimia Nervosa 2 53 0.063
277
CRN024 Corneal Disease 47 0.063
278
ADR007 Adrenoleukodystrophy 72 0.063
279
GLB015 Glioblastoma Multiforme 68 0.063
280
OCL011 Ocular Motility Disease 31 0.062
281
MTR031 Motor Neuro-Ophthalmic Disorders 20 0.062
282
CYC008 Cyclic Vomiting Syndrome 50 0.062
283
IMM158 Immune Suppression 57 0.061
284
NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 57 0.061
285
URN022 Urinary Tract Infections, Recurrent 29 0.061
286
HRD054 Hereditary Neuropathy with Liability to Pressure Palsy 37 0.061
287
MCL006 Macular Retinal Edema 51 0.061
288
BRN028 Brain Cancer 72 0.061
289
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 54 0.061
290
P MTC133 Mitochondrial Myopathy 53 0.060
291
DMY004 Demyelinating Disease 58 0.060
292
SNS001 Sensorineural Hearing Loss 59 0.060
293
CLC006 Calcinosis 51 0.060
294
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 43 0.060
295
ATN005 Autonomic Dysfunction 51 0.060
296
PLM031 Poliomyelitis 64 0.059
297
P DYS021 Dysautonomia 47 0.059
298
PRP001 Propionic Acidemia 63 0.059
299
P CHR084 Chromosomal Disease 40 0.059
300
CNJ012 Conjunctival Disease 48 0.059
301
P MPL001 Maple Syrup Urine Disease 66 0.059
302
c MLG068 Malignant Glioma 66 0.059
303
CNZ011 Coenzyme Q10 Deficiency, Primary, 8 19 0.058
304
P CRD132 Cardiac Conduction Defect 53 0.058
305
RLP002 Relapsing-Remitting Multiple Sclerosis 59 0.058
306
SYS003 Systolic Heart Failure 44 0.058
307
c MTR002 Mitral Valve Insufficiency 46 0.057
308
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 53 0.057
309
CRB027 Cerebellar Disease 48 0.057
310
ALP072 Alpha-Fetoprotein Deficiency 32 0.056
311
NNL002 Nonalcoholic Steatohepatitis 56 0.056
312
c TBR025 Tuberous Sclerosis 1 63 0.056
313
CRN025 Corneal Dystrophy 42 0.056
314
P PRD006 Prader-Willi Syndrome 66 0.056
315
GST023 Gastric Ulcer 57 0.055
316
LCR008 Lacrimal Apparatus Disease 43 0.055
317
OVR063 Overnutrition 53 0.055
318
P HML001 Hemolytic-Uremic Syndrome 50 0.055
319
RSS026 Roussy-Levy Hereditary Areflexic Dystasia 53 0.055
320
SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 28 0.054
321
SPN050 Spinocerebellar Degeneration 41 0.054
322
TRG002 Trigeminal Neuralgia 60 0.054
323
TMP001 Temporal Lobe Epilepsy 54 0.054
324
STS003 Sitosterolemia 58 0.054
325
MTC097 Mitochondrial Complex Iv Deficiency 55 0.054
326
NRV004 Nerve Compression Syndrome 37 0.054
327
CLR030 Clear Cell Renal Cell Carcinoma 55 0.054
328
CRD137 Cardiogenic Shock 45 0.054
329
NPH009 Nephrolithiasis 57 0.054
330
ISV001 Isovaleric Acidemia 49 0.053
331
P MTR012 Mitral Valve Disease 59 0.053
332
LPD012 Lipoid Congenital Adrenal Hyperplasia 66 0.053
333
HLC007 Helicobacter Pylori Infection 64 0.053
334
PRP080 Peripheral Artery Disease 54 0.053
335
P NRN021 Neuronal Ceroid Lipofuscinosis 62 0.053
336
ALR002 Al-Raqad Syndrome 30 0.053
337
PNC065 Pinched Nerve 15 0.053
338
PHC013 Phaeochromocytoma 44 0.053
339
P INT001 Intrahepatic Cholestasis 62 0.053
340
THR100 Thrombocytopenic Purpura, Autoimmune 57 0.053
341
MNG003 Mungan Syndrome 34 0.053
342
CCN001 Cocaine Dependence 52 0.053
343
P 3MT007 3-Methylglutaconic Aciduria 38 0.052
344
c PLY105 Polycystic Ovary Syndrome 1 30 0.052
345
DST006 Diastolic Heart Failure 47 0.052
346
c CRD093 Cardiomyopathy, Dilated, 1a 58 0.052
347
ABD017 Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 36 0.052
348
P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 24 0.051
349
c PNC108 Pancreatitis, Hereditary 60 0.051
350
CRT033 Corticobasal Degeneration 51 0.051
351
P MYG005 Myoglobinuria 37 0.051
352
c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 33 0.051
353
c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 63 0.051
354
XNT003 Xanthomatosis 53 0.051
355
CRN030 Coronary Stenosis 52 0.051
356
BRN080 Brain Ischemia 45 0.051
357
c ART101 Aortic Valve Disease 2 65 0.051
358
P HYP614 Hyperlipidemia, Familial Combined 57 0.050
359
THY030 Thyroid Gland Disease 51 0.050
360
SPN187 Spinocerebellar Atrophy 23 0.050
361
c ATR087 Atrial Standstill 1 59 0.050
362
ANX004 Anoxia 49 0.050
363
c GLL024 Gallbladder Disease 1 39 0.050
364
c PYR010 Peyronie's Disease 54 0.050
365
ULC007 Ulcerative Stomatitis 46 0.049
366
HRT015 Heritable Pulmonary Arterial Hypertension 48 0.049
367
c ATS307 Autosomal Recessive Cerebellar Ataxia 27 0.049
368
P PNM006 Pneumoconiosis 55 0.049
369
VRC001 Varicocele 52 0.049
370
DBT006 Diabetic Macular Edema 49 0.049
371
CHR603 Chronic Enteropathy Associated with Slco2a1 Gene 21 0.049
372
SMT004 Smith-Lemli-Opitz Syndrome 70 0.049
373
P PRC031 Preeclampsia/eclampsia 1 41 0.049
374
c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 57 0.049
375
CRB011 Cerebrotendinous Xanthomatosis 64 0.048
376
GLC098 Glaucoma-Related Pigment Dispersion Syndrome 40 0.048
377
MTC005 Mitochondrial Metabolism Disease 33 0.048
378
HYP264 Hypertonia 32 0.048
379
c INT072 Intestinal Pseudo-Obstruction 57 0.048
380
c OPT051 Opitz Gbbb Syndrome, Type I 47 0.048
381
P LFT003 Left Ventricular Noncompaction 52 0.048
382
GLS001 Gliosarcoma 61 0.048
383
MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 51 0.048
384
HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 35 0.047
385
c MSC120 Muscular Dystrophy, Limb-Girdle, Type 2c 53 0.047
386
TRN015 Transient Cerebral Ischemia 58 0.047
387
CLS047 Classic Progressive Supranuclear Palsy Syndrome 25 0.047
388
DBT008 Diabetic Angiopathy 48 0.047
389
CHR078 Chorioretinitis 41 0.047
390
CLR108 Colorectal Adenoma 60 0.046
391
MTC020 Mitochondrial Complex Ii Deficiency 48 0.046
392
MTR007 Motor Peripheral Neuropathy 39 0.046
393
HYP144 Hyperacusis 26 0.046
394
P FTT008 Fatty Liver Disease, Nonalcoholic 1 25 0.046
395
CRN017 Coronary Thrombosis 48 0.046
396
MTC027 Mitochondrial Trifunctional Protein Deficiency 55 0.046
397
ATN002 Autonomic Nervous System Disease 51 0.046
398
P PLZ001 Pelizaeus-Merzbacher Disease 68 0.046
399
P FRD012 Friedreich Ataxia 1 58 0.045
400
CLR109 Colorectal Adenocarcinoma 54 0.045
401
PTT009 Pituitary Gland Disease 56 0.045
402
HPT082 Hepatic Adenomas, Familial 52 0.044
403
SDD008 Sudden Sensorineural Hearing Loss 46 0.044
404
P PLL002 Pellagra 44 0.044
405
c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 38 0.044
406
EPD070 Epidermoid Cysts 46 0.043
407
P MCH002 Machado-Joseph Disease 63 0.043
408
MCL027 Macular Dystrophy, Dominant Cystoid 45 0.043
409
P CHN044 Chondrodysplasia Punctata Syndrome 43 0.043
410
P SDR003 Sideroblastic Anemia 43 0.043
411
RSP002 Respiratory Syncytial Virus Infectious Disease 53 0.043
412
LBR002 Leber Hereditary Optic Neuropathy 57 0.043
413
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 43 0.043
414
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 55 0.043
415
MGR001 Migraine Without Aura 47 0.042
416
P HYP050 Hyperinsulinemic Hypoglycemia 55 0.042
417
P BRS044 Breast Adenocarcinoma 58 0.041
418
NPH091 Nephrolithiasis, Calcium Oxalate 51 0.041
419
NPH001 Nephrogenic Adenoma 31 0.041
420
MVL001 Mevalonic Aciduria 57 0.041
421
P ZLL001 Zellweger Syndrome 56 0.041
422
ADR005 Adrenal Carcinoma 59 0.041
423
PYR016 Pyridoxine Deficiency 37 0.040
424
c TRC022 Tricuspid Valve Insufficiency 36 0.040
425
c MJR007 Major Affective Disorder 1 33 0.040
426
PHT003 Phototoxic Dermatitis 39 0.040
427
c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60 0.039
428
DFF021 Diffuse Mesangial Sclerosis 36 0.039
429
HPT004 Hepatic Coma 40 0.039
430
c MJR008 Major Affective Disorder 2 33 0.039
431
c MJR023 Major Affective Disorder 7 32 0.039
432
c MJR024 Major Affective Disorder 9 31 0.039
433
c MJR022 Major Affective Disorder 8 31 0.039
434
P MJR004 Major Affective Disorder 4 29 0.039
435
c MJR003 Major Affective Disorder 6 28 0.039
436
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 51 0.039
437
c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 40 0.039
438
CGN006 Cogan Syndrome 53 0.039
439
NCR015 Necrotizing Autoimmune Myopathy 21 0.039
440
CRB090 Cerebral Hypoxia 47 0.038
441
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 47 0.038
442
P CRN026 Corneal Edema 43 0.038
443
DBT081 Diabetic Encephalopathy 27 0.037
444
P MCK013 Meckel Syndrome, Type 1 62 0.037
445
THY049 Thyroid Cancer, Anaplastic 53 0.037
446
RYS001 Reye Syndrome 50 0.037
447
P OVR106 Ovarian Clear Cell Carcinoma 45 0.037
448
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 50 0.037
449
IDP024 Idiopathic Inflammatory Myopathy 49 0.037
450
MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 35 0.037
451
MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 31 0.037
452
VST006 Vestibulocochlear Nerve Disease 27 0.037
453
c SPN366 Spinocerebellar Ataxia with Axonal Neuropathy Type 2 27 0.037
454
FCH001 Fuchs' Endothelial Dystrophy 48 0.036
455
c EST002 Estrogen-Receptor Negative Breast Cancer 44 0.036
456
KHN001 Kuhnt-Junius Degeneration 41 0.036
457
HRD026 Hereditary Ataxia 43 0.035
458
c NPH049 Nephrotic Syndrome, Type 2 40 0.035
459
DYS030 Dysferlinopathy 34 0.035
460
MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 24 0.035
461
c L2H001 L-2-Hydroxyglutaric Aciduria 43 0.035
462
GRD007 Grade Iii Astrocytoma 56 0.035
463
P RHZ001 Rhizomelic Chondrodysplasia Punctata 49 0.035
464
ADP007 Adie Pupil 41 0.034
465
DMT001 Dimethylglycine Dehydrogenase Deficiency 25 0.034
466
c NPH055 Nephrotic Syndrome, Type 1 46 0.034
467
PRX034 Peroxisome Disorders 20 0.034
468
RVL002 Ruvalcaba Syndrome 37 0.034
469
GNT050 Genitourinary Tract Anomalies 41 0.033
470
MCR017 Macrocytic Anemia 44 0.033
471
DBT090 Diabetes and Deafness, Maternally Inherited 40 0.033
472
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 44 0.032
473
P NRD007 Neurodegeneration with Brain Iron Accumulation 46 0.032
474
c OPT053 Optic Atrophy 1 45 0.032
475
URC003 Urachal Adenocarcinoma 22 0.032
476
BLD163 Blood Group, Dombrock System 23 0.032
477
PSD088 Pseudobulbar Affect 31 0.031
478
SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 45 0.031
479
TTR025 Tetraamelia Syndrome, Autosomal Recessive 40 0.031
480
BCK003 Background Diabetic Retinopathy 37 0.031
481
NND010 Nondisjunction 33 0.031
482
CHR178 Chromosomal Triplication 35 0.030
483
CTR009 Cataract Congenital Dominant Non Nuclear 16 0.030
484
LKN010 Leukoencephalopathy with Dystonia and Motor Neuropathy 29 0.030
485
PNG001 Pinguecula 35 0.030
486
c 3MT016 3-Methylglutaconic Aciduria, Type Iii 45 0.029
487
CMB011 Combined Malonic and Methylmalonic Aciduria 22 0.029
488
PGT003 Paget Disease, Extramammary 44 0.028
489
c MYT027 Myotonia Congenita, Autosomal Dominant 34 0.028
490
FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 30 0.028
491
P FML035 Familial Hyperlipidemia 48 0.028
492
PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 36 0.028
493
MTC060 Mitochondrial Dna Depletion Syndrome 9 30 0.028
494
c NPH074 Nephrotic Syndrome, Type 9 20 0.027
495
2MT001 2-Methyl-3-Hydroxybutyric Aciduria 17 0.027
496
c MLG036 Malignant Spiradenoma 31 0.027
497
CMB072 Combined Oxidative Phosphorylation Deficiency 28 20 0.026
498
ISL116 Isolated Complex Iii Deficiency 23 0.026
499
c SPN107 Spinocerebellar Ataxia 9 20 0.026
500
STT044 Statin Toxicity 11 0.026
501
CMB079 Combined Oxidative Phosphorylation Deficiency 29 18 0.025
502
MDM005 Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency 14 0.025
503
DXY002 Deoxyribose-5-Phosphate Aldolase Deficiency 7 0.025
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