Search results for Coenzyme A

1092 hits were found for Coenzyme A

# Family MCID Name MIFTS Score
1
MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 33 4.560
2
ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 63 3.685
3
ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 58 3.245
4
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 61 3.200
5
LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59 3.180
6
MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 49 3.129
7
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 67 2.631
8
ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 52 2.615
9
GLT035 Glutaric Acidemia I 48 2.567
10
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 48 2.525
11
ALP077 Alpha-Methylacetoacetic Aciduria 56 1.886
12
3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 48 1.878
13
MLN011 Malonyl-Coa Decarboxylase Deficiency 37 1.848
14
2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 38 1.819
15
3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 50 1.799
16
ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 35 1.795
17
c MTC059 Mitochondrial Dna Depletion Syndrome 5 43 1.776
18
P MYP004 Myopathy 64 0.341
19
c HYP836 Hypercholesterolemia, Familial, 1 72 0.341
20
CNG034 Congestive Heart Failure 70 0.329
21
HYP056 Hypoglycemia 66 0.308
22
P KDN018 Kidney Disease 70 0.299
23
P HRT032 Heart Disease 75 0.296
24
ATX038 Ataxia and Polyneuropathy, Adult-Onset 44 0.295
25
ISC004 Ischemia 60 0.277
26
P ADN016 Adenocarcinoma 64 0.271
27
P BRS047 Breast Cancer 96 0.268
28
P ENC018 Encephalopathy 61 0.264
29
P NRP001 Neuropathy 56 0.264
30
c ATR087 Atrial Standstill 1 74 0.263
31
P DRR001 Diarrhea 57 0.261
32
P CLR023 Colorectal Cancer 98 0.259
33
48X005 48,xyyy 39 0.258
34
LPD008 Lipid Metabolism Disorder 62 0.256
35
DPR016 Depression 63 0.255
36
P LVR013 Liver Disease 68 0.255
37
ATH013 Atherosclerosis Susceptibility 66 0.253
38
P CRN300 Coronary Heart Disease 1 63 0.252
39
P ALZ034 Alzheimer Disease 88 0.246
40
P CRN018 Coronary Artery Anomaly 63 0.241
41
ADN018 Adenoma 58 0.240
42
ATM095 Autoimmune Disease 61 0.237
43
c MGR028 Migraine with or Without Aura 1 69 0.236
44
FTT001 Fatty Liver Disease 61 0.235
45
P HYP724 Hyperlipoproteinemia, Type Iii 72 0.234
46
END030 End Stage Renal Failure 58 0.234
47
P PRS040 Prostate Cancer 97 0.233
48
MNT002 Mental Depression 57 0.232
49
P LYM118 Lymphoma 68 0.231
50
P LNG032 Lung Cancer 97 0.230
51
P HDC001 Headache 57 0.230
52
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.229
53
ART140 Arteries, Anomalies of 53 0.229
54
P DBT009 Diabetes Mellitus 64 0.228
55
P INF032 Infertility 57 0.228
56
P CRD119 Cardiac Arrest 67 0.228
57
HLX001 Helix Syndrome 47 0.228
58
OCL069 Ocular Motor Apraxia 51 0.227
59
DWN001 Down Syndrome 70 0.224
60
c HYP595 Hypertension, Essential 84 0.222
61
CNZ001 Coenzyme Q10 Deficiency Disease 48 0.219
62
c CHR684 Chronic Kidney Disease 66 0.219
63
TRD008 Triiodothyronine Receptor Auxiliary Protein 34 0.216
64
ANX010 Anxiety 72 0.216
65
P SZR006 Seizure Disorder 58 0.214
66
P HPT023 Hepatocellular Carcinoma 100 0.213
67
P LYM031 Lymphocytic Leukemia 55 0.212
68
P MSC005 Muscular Dystrophy 66 0.210
69
BCK006 Back Pain 42 0.210
70
c PRC016 Pre-Eclampsia 63 0.210
71
CRB039 Cerebrovascular Disease 69 0.209
72
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56 0.209
73
LVR012 Liver Cirrhosis 63 0.209
74
P CTR002 Cataract 60 0.208
75
P RSP003 Respiratory Failure 74 0.206
76
DRM006 Dermatitis 61 0.205
77
P PNC035 Pancreatic Cancer 84 0.205
78
P HYP086 Hypothyroidism 68 0.205
79
P NPH012 Nephrotic Syndrome 63 0.204
80
P VSC007 Vascular Disease 63 0.204
81
VSL002 Visual Epilepsy 58 0.204
82
P NRB001 Neuroblastoma 71 0.204
83
P OVR042 Ovarian Cancer 89 0.203
84
P CHR345 Chronic Pain 50 0.203
85
OST012 Osteoarthritis 78 0.203
86
STR067 Stroke, Ischemic 80 0.202
87
47X002 47,xyy 49 0.202
88
P MYC007 Myocardial Infarction 70 0.202
89
P HNT016 Huntington Disease 71 0.201
90
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.200
91
RNL114 Renal Cell Carcinoma, Nonpapillary 78 0.200
92
P MYL006 Myeloid Leukemia 60 0.199
93
SPN186 Spinal Cord Injury 60 0.199
94
P PRD008 Periodontitis 62 0.199
95
P BPL003 Bipolar Disorder 56 0.198
96
c DLT002 Dilated Cardiomyopathy 79 0.198
97
LNG099 Lung Disease 61 0.197
98
c MJR024 Major Affective Disorder 9 41 0.197
99
c MJR022 Major Affective Disorder 8 38 0.197
100
P EXN002 Exanthem 57 0.196
101
P ATS364 Autism 65 0.195
102
P LKM002 Leukemia 66 0.195
103
P PRK057 Parkinson Disease, Late-Onset 76 0.195
104
TXC005 Toxic Shock Syndrome 61 0.195
105
P DMN002 Dementia 67 0.193
106
ALL026 Allergic Hypersensitivity Disease 64 0.193
107
HYP066 Hyperglycemia 61 0.193
108
c LKM061 Leukemia, Acute Myeloid 83 0.193
109
DFC004 Deficiency Anemia 75 0.192
110
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89 0.192
111
P LTR001 Lateral Sclerosis 53 0.191
112
P THR014 Thrombocytopenia 68 0.191
113
P BCL017 B-Cell Lymphoma 58 0.191
114
c BRN108 Branchiootic Syndrome 1 61 0.190
115
c SYS001 Systemic Lupus Erythematosus 86 0.190
116
DYS073 Dysphagia 50 0.190
117
PLM129 Pulmonary Disease, Chronic Obstructive 73 0.190
118
ATS010 Autosomal Recessive Disease 48 0.189
119
P OST002 Osteoporosis 73 0.189
120
BRN071 Brain Injury 49 0.189
121
P GLM045 Glioma 63 0.189
122
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81 0.188
123
MLN008 Melanoma 69 0.187
124
AGN016 Aging 56 0.187
125
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 55 0.187
126
TRM010 Traumatic Brain Injury 53 0.186
127
GLL048 Glial Tumor 45 0.185
128
c ACT075 Acute Myocardial Infarction 56 0.185
129
P INF038 Influenza 68 0.184
130
GLB015 Glioblastoma Multiforme 75 0.184
131
c BDY007 Body Mass Index Quantitative Trait Locus 1 42 0.184
132
P PSR002 Psoriasis 62 0.183
133
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.183
134
PST011 Pustulosis of Palm and Sole 52 0.183
135
P LPS004 Lupus Erythematosus 61 0.182
136
P INF037 Inflammatory Bowel Disease 56 0.182
137
P BLD134 Bladder Cancer 78 0.181
138
CYS001 Cystic Fibrosis 80 0.181
139
CLT003 Colitis 62 0.180
140
P PRP019 Peripheral Nervous System Disease 57 0.180
141
ACR006 Aceruloplasminemia 73 0.179
142
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.179
143
c HPT073 Hepatitis C Virus 70 0.179
144
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 41 0.179
145
P MJR001 Major Depressive Disorder 68 0.179
146
P GST053 Gastric Cancer 83 0.178
147
THY029 Thyroid Carcinoma 59 0.178
148
NNL005 Non-Alcoholic Fatty Liver Disease 62 0.178
149
P HYP265 Hypotonia 42 0.178
150
P BDY004 Body Mass Index Quantitative Trait Locus 11 76 0.178
151
MYL069 Myeloma, Multiple 85 0.177
152
P CRD246 Cardiovascular System Disease 56 0.176
153
ALC007 Alcohol Dependence 66 0.176
154
DSS008 Disease of Mental Health 57 0.176
155
c SML038 Small Cell Cancer of the Lung 65 0.175
156
P HYP750 Hypertriglyceridemia, Familial 61 0.174
157
THR024 Thrombosis 56 0.174
158
CHR178 Chromosomal Triplication 35 0.174
159
IMM167 Immune Deficiency Disease 78 0.174
160
c ACT071 Acute Kidney Failure 59 0.174
161
P MTC069 Mitochondrial Disorders 56 0.174
162
P LCT001 Lactic Acidosis 51 0.174
163
ULC004 Ulcerative Colitis 73 0.173
164
c FML021 Familial Hypercholesterolemia 68 0.173
165
CRH001 Crohn's Disease 74 0.172
166
P HYP061 Hypertrophic Cardiomyopathy 66 0.172
167
P SCH015 Schizophrenia 75 0.172
168
FBR047 Fibromyalgia 59 0.171
169
P MLT020 Multiple Sclerosis 72 0.171
170
INT323 Intraocular Pressure Quantitative Trait Locus 62 0.171
171
P SLP006 Sleep Apnea 69 0.171
172
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 63 0.169
173
P FTT008 Fatty Liver Disease, Nonalcoholic 1 57 0.169
174
HRW001 Hair Whorl 36 0.168
175
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.168
176
ART016 Aortic Aneurysm 68 0.167
177
c ATS007 Autism Spectrum Disorder 67 0.166
178
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.165
179
CNS004 Constipation 57 0.165
180
ADL002 Adult Syndrome 69 0.165
181
c THR092 Thrombophilia Due to Thrombin Defect 73 0.165
182
OST159 Osteogenic Sarcoma 66 0.164
183
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 64 0.163
184
P LKM062 Leukemia, Acute Lymphoblastic 68 0.163
185
MTB004 Metabolic Acidosis 50 0.162
186
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 65 0.162
187
CHL123 Chlamydia 59 0.162
188
c RHB024 Rhabdomyosarcoma 2 65 0.162
189
P TRM003 Tremor 53 0.161
190
P ATR011 Atrial Fibrillation 66 0.161
191
CRV035 Cervical Cancer 76 0.161
192
CYT002 Cytokine Deficiency 44 0.160
193
P PNM007 Pneumonia 68 0.159
194
P ENC004 Encephalitis 61 0.159
195
P PRS038 Personality Disorder 65 0.159
196
P HPT021 Hepatitis 67 0.158
197
P PLM037 Pulmonary Hypertension 68 0.158
198
ANG054 Angina Pectoris 66 0.158
199
P SBS003 Substance Abuse 54 0.158
200
ACQ007 Acquired Immunodeficiency Syndrome 60 0.158
201
P HYP076 Hyperthyroidism 55 0.158
202
P ATT013 Attention Deficit-Hyperactivity Disorder 64 0.157
203
c BDY021 Body Mass Index Quantitative Trait Locus 20 52 0.157
204
CHL068 Cholestasis 60 0.157
205
c BDY005 Body Mass Index Quantitative Trait Locus 9 48 0.157
206
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.157
207
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.157
208
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.157
209
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 0.157
210
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 0.157
211
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.157
212
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 0.157
213
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.157
214
BNR002 Bone Resorption Disease 48 0.157
215
P MYS005 Myositis 56 0.157
216
MYL009 Myelodysplastic Syndrome 70 0.156
217
P HYP098 Hypereosinophilic Syndrome 66 0.156
218
P RCT021 Rectum Cancer 53 0.155
219
MLR004 Malaria 80 0.155
220
HYP266 Hypoxia 56 0.155
221
ANR007 Anorexia Nervosa 63 0.155
223
c MCR120 Microvascular Complications of Diabetes 7 47 0.154
224
CRB037 Cerebral Palsy 68 0.154
225
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25 0.153
226
P ALC033 Alcohol Use Disorder 58 0.153
227
c ACT068 Acute Cystitis 63 0.153
228
c MCR113 Microvascular Complications of Diabetes 3 52 0.152
229
P HRP006 Herpes Simplex 65 0.151
230
c MCR130 Microvascular Complications of Diabetes 6 41 0.151
231
c MCR133 Microvascular Complications of Diabetes 4 41 0.151
232
LYM133 Lymphoma, Hodgkin, Classic 69 0.150
233
RCK004 Rickets 69 0.150
234
P RHN004 Rhinitis 57 0.150
235
SVR004 Severe Combined Immunodeficiency 73 0.149
236
c VRL010 Viral Hepatitis 51 0.149
237
PRT037 Pertussis 65 0.149
238
P PLY011 Polycystic Ovary Syndrome 56 0.148
239
P AMY004 Amyloidosis 70 0.148
240
P MTC133 Mitochondrial Myopathy 49 0.148
241
P HMN010 Hemangioma 61 0.147
242
SKN016 Skin Disease 63 0.147
243
P EPL164 Epilepsy 71 0.146
244
ATX019 Ataxia with Vitamin E Deficiency 48 0.146
245
P DYS154 Dystonia 65 0.146
246
c ACT027 Acute Pancreatitis 59 0.146
247
P MYC008 Myocarditis 59 0.146
248
P TRN020 Turner Syndrome 65 0.145
249
c PRM038 Primary Agammaglobulinemia 43 0.145
250
P MLN007 Male Infertility 56 0.144
251
P DRM053 Dermatitis, Atopic 66 0.144
252
HMP009 Haemophilus Influenzae 42 0.144
253
PSY004 Psychotic Disorder 67 0.144
254
P SNS001 Sensorineural Hearing Loss 61 0.144
255
c PNS012 Paine Syndrome 61 0.144
256
P MCR115 Microvascular Complications of Diabetes 5 66 0.143
257
P NRF023 Neurofibromatosis, Type Ii 76 0.143
258
NRR001 Neuroretinitis 43 0.143
259
P SCL018 Scoliosis 60 0.142
260
IRN002 Iron Metabolism Disease 57 0.142
261
IMP005 Impotence 52 0.141
262
P GRF003 Graft-Versus-Host Disease 71 0.141
263
P PNC044 Pancreatitis 61 0.141
264
RTN023 Retinitis 46 0.140
265
c SPN225 Spondyloarthropathy 1 73 0.140
266
P SKN015 Skin Carcinoma 67 0.140
267
P THL005 Thalassemia 60 0.140
268
P ALP008 Alopecia 56 0.140
269
c EPS039 Episodic Pain Syndrome, Familial, 1 40 0.140
270
P GST044 Gastritis 55 0.140
271
P TRT010 Teratoma 51 0.139
272
MDD011 Mood Disorder 62 0.139
273
KRN002 Kearns-Sayre Syndrome 63 0.139
274
GST045 Gastroenteritis 59 0.138
275
CHL014 Cholera 55 0.138
276
P ECL001 Eclampsia 51 0.138
277
P PHC003 Pheochromocytoma 71 0.138
278
MTC005 Mitochondrial Metabolism Disease 48 0.138
279
CRD132 Cardiac Conduction Defect 59 0.137
280
AST005 Asthma 77 0.136
281
PRP027 Peripheral Vascular Disease 71 0.135
282
HYP060 Hyperinsulinism 54 0.135
283
LSH001 Leishmaniasis 63 0.135
284
P KLZ004 Kala-Azar 1 41 0.135
285
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 66 0.134
286
PRS045 Prostatic Hypertrophy 52 0.134
287
KRT002 Keratomalacia 48 0.134
288
SBC016 Subacute Delirium 44 0.133
289
PRT013 Portal Hypertension 60 0.133
290
MSC157 Muscular Dystrophy, Duchenne Type 71 0.133
291
PLM031 Poliomyelitis 57 0.132
292
STM007 Stomatitis 49 0.132
293
LYM019 Lymphosarcoma 47 0.131
294
SPL018 Splenomegaly 48 0.131
295
P RTN008 Retinitis Pigmentosa 77 0.131
296
ALL003 Allergic Rhinitis 67 0.130
297
GTR002 Goiter 52 0.130
298
DPH001 Diphtheria 60 0.130
299
P MVM001 Movement Disease 61 0.130
300
SPS057 Spasticity 41 0.130
301
LYM143 Lymphoma, Non-Hodgkin, Familial 72 0.130
302
P CND004 Candidiasis 57 0.129
303
EYD002 Eye Disease 58 0.129
304
PRS021 Prostatic Adenoma 51 0.129
305
APH002 Aphasia 57 0.129
306
P HML002 Hemolytic Anemia 62 0.129
307
HNS001 Hansen's Disease 34 0.129
308
VRC005 Varicose Veins 60 0.129
309
P LPR021 Leprosy 3 67 0.127
310
c ART138 Aortic Aneurysm, Familial Abdominal, 1 60 0.127
311
BRN024 Bronchitis 68 0.127
312
c GLL024 Gallbladder Disease 1 52 0.127
313
P MSC003 Muscular Atrophy 52 0.127
314
ADR040 Adrenal Gland Pheochromocytoma 46 0.127
315
PRS129 Prostatic Hyperplasia, Benign 49 0.127
316
c INH020 Inherited Metabolic Disorder 46 0.126
317
P BNG032 Benign Mesothelioma 45 0.126
318
NTR005 Nutritional Deficiency Disease 61 0.125
319
GST033 Gestational Diabetes 57 0.125
320
P OPT006 Optic Nerve Disease 57 0.125
321
c ACT073 Acute Leukemia 58 0.125
322
P MTC004 Mitochondrial Encephalomyopathy 43 0.123
323
HPT004 Hepatic Coma 43 0.123
324
PPT005 Peptic Ulcer Disease 58 0.123
325
ILS001 Ileus 51 0.122
326
P PLM036 Pulmonary Fibrosis 61 0.122
327
END040 Endogenous Depression 54 0.122
328
P OPN001 Open-Angle Glaucoma 49 0.122
329
NRT001 Neurotic Disorder 52 0.121
330
HYP080 Hypogonadism 50 0.121
331
CHL067 Cholecystitis 58 0.121
332
CHL079 Children's Interstitial Lung Disease 27 0.121
333
P SLP005 Sleep Disorder 59 0.121
334
VCC001 Vaccinia 49 0.121
335
GT001 Gout 63 0.120
336
P BND020 Bone Disease 59 0.120
337
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 66 0.120
338
KRT009 Keratosis 53 0.119
339
CHR066 Chronic Fatigue Syndrome 61 0.119
340
P ASP006 Aspergillosis 66 0.118
341
PLM010 Pulmonary Edema 55 0.118
342
HMN014 Human Immunodeficiency Virus Infectious Disease 55 0.118
343
P MYS003 Myasthenia Gravis 68 0.118
344
P PLY019 Polyneuropathy 56 0.118
345
P PTS002 Ptosis 52 0.118
346
STT001 Status Epilepticus 59 0.118
347
P RHB003 Rhabdomyosarcoma 62 0.117
348
IDP011 Idiopathic Interstitial Pneumonia 63 0.117
349
IRR002 Irritable Bowel Syndrome 63 0.117
350
P KDN017 Kidney Cancer 61 0.117
351
LGH007 Leigh Syndrome 70 0.117
352
PTH003 Pathologic Nystagmus 51 0.117
353
CRB004 Cerebral Artery Occlusion 44 0.116
354
c PLM164 Pulmonary Hypertension, Primary, 1 75 0.116
355
HYP005 Hypokalemia 55 0.116
356
c MTR018 Maturity-Onset Diabetes of the Young, Type 1 60 0.115
357
KRT019 Keratitis, Hereditary 67 0.115
358
OST003 Osteonecrosis 61 0.115
359
P SCK005 Sickle Cell Disease 50 0.114
360
LPT014 Leptin Deficiency or Dysfunction 73 0.114
361
P AST007 Astrocytoma 50 0.114
362
MLT157 Multiple System Atrophy 1 70 0.114
363
CNZ006 Coenzyme Q10 Deficiency, Primary, 1 38 0.114
364
c ACT134 Acute Liver Failure 51 0.113
365
c MTR002 Mitral Valve Insufficiency 47 0.113
366
CRD137 Cardiogenic Shock 48 0.113
367
c FML035 Familial Hyperlipidemia 55 0.113
368
P ATS308 Autosomal Dominant Cerebellar Ataxia 60 0.113
369
P RTN024 Retinoblastoma 72 0.113
370
INT007 Intermediate Coronary Syndrome 55 0.113
371
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 56 0.112
372
c PRD040 Periodontitis, Chronic 54 0.112
373
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64 0.112
374
RLP002 Relapsing-Remitting Multiple Sclerosis 55 0.112
375
P MYC084 Mycobacterium Tuberculosis 1 68 0.112
376
P DBT085 Diabetes Mellitus, Insulin-Dependent 67 0.112
377
P ART018 Aortic Valve Insufficiency 53 0.112
378
RHM027 Rheumatic Disease 56 0.111
379
HYP064 Hypogonadotropism 40 0.111
380
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 62 0.111
381
c FML008 Familial Retinoblastoma 53 0.111
382
HMP001 Hemopericardium 46 0.111
383
HMS001 Hemosiderosis 54 0.111
384
DBT010 Diabetic Neuropathy 55 0.111
385
INS024 Insulin-Like Growth Factor I 79 0.110
386
P GRV001 Graves' Disease 55 0.110
387
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 47 0.110
388
P MTH008 Methylmalonic Acidemia 51 0.110
389
HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 53 0.110
390
P ANT006 Antiphospholipid Syndrome 54 0.110
391
MTH071 Methane Production 26 0.110
392
TRN015 Transient Cerebral Ischemia 62 0.109
393
PHN003 Phenylketonuria 75 0.109
394
P ATX030 Ataxia-Telangiectasia 83 0.109
396
P PYL005 Pyelonephritis 56 0.108
397
P MCR010 Microcephaly 58 0.108
398
P FBR017 Fibrosarcoma 56 0.108
399
P PRC012 Pericardial Effusion 51 0.107
400
GST023 Gastric Ulcer 53 0.106
401
HLC007 Helicobacter Pylori Infection 59 0.106
402
HPT019 Hepatic Encephalopathy 60 0.106
403
APR001 Apraxia 51 0.106
404
P FCL005 Focal Segmental Glomerulosclerosis 58 0.106
405
NRM005 Neuromuscular Disease 63 0.105
406
BRR014 Barrett Esophagus 64 0.105
407
P CHR071 Charcot-Marie-Tooth Disease 64 0.105
408
PNC001 Pancytopenia 54 0.105
409
P DRM010 Dermatomyositis 61 0.104
410
CRN030 Coronary Stenosis 50 0.104
411
ATR057 Atrioventricular Block 55 0.104
412
CNN005 Connective Tissue Disease 66 0.104
413
c LKM063 Leukemia, Chronic Myeloid 71 0.104
414
NNL006 Non-Alcoholic Steatohepatitis 51 0.103
415
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 65 0.103
416
P TBR001 Tuberous Sclerosis 70 0.103
417
ORL011 Oral Cancer 60 0.103
418
GLC003 Glucose Intolerance 54 0.103
419
P RRH023 Rare Hereditary Hemochromatosis 41 0.103
420
PRS063 Paresthesia 43 0.103
421
CYN002 Cyanosis, Transient Neonatal 45 0.102
422
HRP004 Herpes Zoster 60 0.102
423
PHR003 Pharyngitis 56 0.102
424
P MYC033 Myoclonus 46 0.102
425
PLY150 Polykaryocytosis Inducer 31 0.102
426
SDD001 Sudden Infant Death Syndrome 61 0.101
427
P MTR014 Motor Neuron Disease 64 0.101
428
CNZ005 Coenzyme Q10 Deficiency, Primary, 4 40 0.101
429
VRC001 Varicocele 49 0.101
430
P ART021 Arteriosclerosis 54 0.101
431
ALL014 Allergic Encephalomyelitis 39 0.101
432
SCH012 Schizoaffective Disorder 50 0.101
433
AMN003 Amnestic Disorder 54 0.101
434
c MLG068 Malignant Glioma 45 0.100
435
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.100
436
P ORT004 Orthostatic Intolerance 63 0.100
437
FCL012 Facial Paralysis 48 0.100
438
GNG013 Gingivitis 59 0.100
439
c FNC043 Fanconi Anemia, Complementation Group E 62 0.100
440
P FLL037 Follicular Lymphoma 66 0.099
441
HYP014 Hyperuricemia 51 0.099
442
RYS001 Reye Syndrome 51 0.099
443
INT075 Intracranial Hypertension 53 0.098
444
INT066 Interstitial Lung Disease 59 0.098
445
c GLC092 Glaucoma, Primary Open Angle 62 0.098
446
HMC014 Homocysteinemia 53 0.097
447
P DNG005 Dengue Virus 57 0.096
448
P MYG005 Myoglobinuria 43 0.096
449
ACN002 Acanthosis Nigricans 60 0.096
450
CNZ010 Coenzyme Q10 Deficiency, Primary, 7 40 0.096
451
P SPR120 Supranuclear Palsy, Progressive, 1 68 0.096
452
INS001 Insulinoma 60 0.096
453
P CNR004 Cone-Rod Dystrophy 2 71 0.096
454
CYT008 Cytomegalovirus Infection 56 0.095
455
CRP001 Carpal Tunnel Syndrome 67 0.095
456
SNS003 Sensory Peripheral Neuropathy 53 0.094
457
P CMP008 Compartment Syndrome 48 0.094
458
P ANR048 Aniridia 1 63 0.094
459
P PLY041 Polymyositis 57 0.094
460
GST040 Gastric Adenocarcinoma 70 0.094
461
c LRG017 Large Intestine Cancer 47 0.094
462
ALL006 Allergic Asthma 56 0.094
463
PLC008 Placenta Disease 49 0.094
464
P MJR007 Major Affective Disorder 1 43 0.093
465
TTH006 Tooth Disease 46 0.093
466
P TMP001 Temporal Lobe Epilepsy 50 0.093
467
KHL003 Kohlschutter-Tonz Syndrome 64 0.093
468
URM002 Uremia 49 0.093
469
ENT004 Enthesopathy 48 0.093
470
CRD223 Cardiac Arrhythmia 60 0.093
471
c CRV002 Cervix Uteri Carcinoma in Situ 44 0.093
472
CRV045 Cervical Intraepithelial Neoplasia 39 0.093
473
c EXD008 Exudative Vitreoretinopathy 1 69 0.092
474
ART002 Arts Syndrome 63 0.092
475
MCL006 Macular Retinal Edema 55 0.092
476
VTM002 Vitamin B12 Deficiency 48 0.092
477
ACY011 Acyl-Coa Dehydrogenase Deficiency 37 0.091
478
ACR007 Acromegaly 71 0.091
479
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 46 0.091
480
CHR073 Choreatic Disease 52 0.091
481
P LCH002 Lichen Planus 54 0.091
482
CLN015 Colon Adenocarcinoma 63 0.091
483
c GRV008 Graves Disease 1 55 0.090
484
P RTN016 Retinal Degeneration 53 0.090
485
c BTT014 Beta-Thalassemia 72 0.090
486
c DNT047 Dentinogenesis Imperfecta Type 2 33 0.090
487
P OBS001 Obstructive Jaundice 48 0.090
488
PLM134 Pulmonary Fibrosis, Idiopathic 75 0.090
489
UND005 Undifferentiated Pleomorphic Sarcoma 66 0.090
490
IRN001 Iron Deficiency Anemia 58 0.090
491
P NRV007 Nervous System Disease 66 0.089
492
PRP080 Peripheral Artery Disease 53 0.089
493
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 0.089
494
INT002 Intermittent Claudication 61 0.089
495
CNZ008 Coenzyme Q10 Deficiency, Primary, 6 33 0.089
496
OBS525 Obsolete: Squamous Cell Carcinoma of Head and Neck 57 0.089
497
P HYP024 Hypoparathyroidism 55 0.089
498
CHR074 Choriocarcinoma 46 0.088
499
P MYT002 Myotonic Dystrophy 49 0.088
500
CNZ009 Coenzyme Q10 Deficiency, Primary, 5 35 0.088
501
c HYP272 Hypercholesterolemia, Familial, 3 43 0.088
502
BRN004 Brain Edema 55 0.088
503
NPH091 Nephrolithiasis, Calcium Oxalate 66 0.088
504
ATN005 Autonomic Dysfunction 47 0.088
505
PPL002 Papillary Carcinoma 47 0.088
506
FDL002 Food Allergy 49 0.088
507
NRN001 Neuroendocrine Carcinoma 47 0.088
508
P PRM006 Primary Biliary Cirrhosis 61 0.088
509
OCL006 Ocular Hypertension 53 0.087
510
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 50 0.087
511
P MTR003 Mitral Valve Stenosis 50 0.087
512
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61 0.087
513
c MCR129 Microvascular Complications of Diabetes 1 66 0.086
514
CNZ004 Coenzyme Q10 Deficiency, Primary, 3 32 0.086
515
HPT022 Hepatoblastoma 56 0.086
516
VSC002 Vascular Dementia 57 0.085
517
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 38 0.085
518
THR013 Thoracic Outlet Syndrome 53 0.085
519
BRN028 Brain Cancer 73 0.085
520
DVR002 Diverticulitis 44 0.085
521
MSC007 Muscle Hypertrophy 63 0.085
522
P FRN006 Frontotemporal Dementia 70 0.085
523
ISL099 Isolated Methylmalonic Acidemia 30 0.085
524
HYP081 Hypolipoproteinemia 50 0.085
525
c PCH010 Pachyonychia Congenita 3 43 0.085
526
SCK003 Sickle Cell Anemia 72 0.085
527
P MNC007 Monocytic Leukemia 54 0.084
528
DBT084 Diabetes Mellitus, Ketosis-Prone 59 0.084
529
P GCH001 Gaucher's Disease 64 0.084
530
HYP781 Hypoascorbemia 50 0.084
531
APN008 Apnea, Obstructive Sleep 65 0.084
532
P PRD006 Prader-Willi Syndrome 59 0.084
533
WST005 West Nile Virus 55 0.083
534
P FRD001 Friedreich Ataxia 63 0.083
535
ERY003 Erythema Multiforme 57 0.083
536
KRT006 Keratoconjunctivitis 53 0.083
537
c TBR025 Tuberous Sclerosis 1 76 0.082
538
LPD012 Lipoid Congenital Adrenal Hyperplasia 71 0.082
539
AZS001 Azoospermia 50 0.082
540
P GLM040 Glioma Susceptibility 1 81 0.081
541
PPL049 Papillon-Lefevre Syndrome 63 0.081
542
GLL018 Gallbladder Cancer 56 0.081
543
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 32 0.081
544
CYS009 Cystadenoma 43 0.081
545
P SPR086 Spermatogenic Failure 3 44 0.080
546
TRG002 Trigeminal Neuralgia 60 0.080
547
XRD010 Xeroderma Pigmentosum, Variant Type 73 0.080
548
DWR001 Dwarfism 44 0.080
549
RDN001 Reading Disorder 40 0.080
550
c SVR005 Severe Pre-Eclampsia 49 0.080
551
ADR007 Adrenoleukodystrophy 74 0.080
552
ERL001 Early Myoclonic Encephalopathy 61 0.079
553
CLR030 Clear Cell Renal Cell Carcinoma 53 0.079
554
CRC021 Carcinosarcoma 61 0.079
555
CHL147 Chlamydia Pneumonia 45 0.079
556
P HML001 Hemolytic-Uremic Syndrome 52 0.079
557
P ICH004 Ichthyosis 54 0.079
558
P SJG008 Sjogren Syndrome 56 0.079
559
P MCP040 Mucopolysaccharidosis-Plus Syndrome 64 0.078
560
P SPN046 Spinal Muscular Atrophy 64 0.078
561
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51 0.077
562
c MCR112 Microvascular Complications of Diabetes 2 41 0.077
563
c MJR003 Major Affective Disorder 6 33 0.077
564
c MJR006 Major Affective Disorder 5 33 0.077
565
CRT072 Creutzfeldt-Jakob Disease 69 0.077
566
ORG002 Organic Acidemia 43 0.077
567
HLL004 Hellp Syndrome 53 0.077
568
c ART101 Aortic Valve Disease 2 63 0.077
569
PRT058 Pure Autonomic Failure 59 0.077
570
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 65 0.076
571
P ANG001 Angelman Syndrome 67 0.076
572
NWC001 Newcastle Disease 44 0.076
573
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 32 0.076
574
ANX004 Anoxia 42 0.076
575
P RTT002 Rett Syndrome 80 0.076
576
RNL065 Renal Cell Carcinoma, Papillary, 1 73 0.076
577
c ESS001 Essential Tremor 56 0.076
578
KRT001 Keratoconjunctivitis Sicca 50 0.075
579
HRT012 Heart Valve Disease 53 0.075
580
MCR011 Microinvasive Gastric Cancer 43 0.075
581
MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 59 0.075
582
ERY051 Erythroleukemia, Familial 56 0.075
583
c ATS307 Autosomal Recessive Cerebellar Ataxia 41 0.075
584
PRS047 Prostatitis 56 0.074
585
c GCH015 Gaucher Disease, Type I 70 0.074
586
CMM005 Common Cold 56 0.074
587
P LKD001 Leukodystrophy 59 0.074
588
SLP001 Sleeping Sickness 48 0.074
589
GST050 Gastrointestinal System Disease 56 0.074
590
c MJR008 Major Affective Disorder 2 34 0.074
591
c MJR023 Major Affective Disorder 7 33 0.074
592
EMB004 Embryonal Carcinoma 57 0.074
593
SBS004 Substance Dependence 48 0.074
594
c MJR004 Major Affective Disorder 4 28 0.074
595
c INV001 Invasive Aspergillosis 48 0.073
596
P BRS044 Breast Adenocarcinoma 59 0.073
597
P ZLL001 Zellweger Syndrome 64 0.073
598
P CRB088 Cerebral Atrophy 38 0.073
599
P RTN018 Retinal Disease 52 0.073
600
ADR022 Adrenomyeloneuropathy 38 0.073
601
P PRN023 Prion Disease 57 0.073
602
P GLY013 Glycogen Storage Disease 59 0.073
603
HMZ003 Homozygous Familial Hypercholesterolemia 55 0.073
604
P LMB006 Limb-Girdle Muscular Dystrophy 53 0.073
605
MYM001 Myoma 53 0.072
606
P VNS003 Venous Insufficiency 55 0.072
607
P HRD217 Hereditary Optic Neuropathy 34 0.072
608
CLR109 Colorectal Adenocarcinoma 50 0.072
609
BRS051 Breast Disease 58 0.072
610
SVR097 Severe Cutaneous Adverse Reaction 67 0.072
611
RHM028 Rheumatic Heart Disease 53 0.072
612
TRY001 Trypanosomiasis 50 0.071
613
ERY066 Erythema Multiforme Major 28 0.071
614
GST020 Gastric Antral Vascular Ectasia 41 0.071
615
c ART115 Aortic Valve Disease 1 75 0.071
616
WST001 West Syndrome 60 0.071
617
MTC023 Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 33 0.070
618
CLR108 Colorectal Adenoma 64 0.070
619
ABD010 Abdominal Wall Defect 35 0.070
620
c PRM196 Premature Ovarian Failure 1 68 0.070
621
CYS014 Cystadenocarcinoma 51 0.069
622
HRN029 Hearing Loss, Noise-Induced 37 0.069
623
c HYD046 Hydatidiform Mole, Recurrent, 1 59 0.069
624
INT067 Interstitial Nephritis 46 0.069
625
c CHR095 Chronic Progressive External Ophthalmoplegia 46 0.069
626
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 61 0.069
627
URT010 Ureteral Obstruction 46 0.069
628
GST010 Gestational Trophoblastic Neoplasm 46 0.069
629
c CNG006 Congenital Hypothyroidism 65 0.069
630
HYP025 Hyperphosphatemia 47 0.069
631
P FBR031 Febrile Seizures 51 0.068
632
INC002 Inclusion Body Myositis 64 0.068
633
P TRC086 Trichohepatoenteric Syndrome 1 59 0.068
634
HMT002 Hematologic Cancer 62 0.068
635
APH001 Aphthous Stomatitis 57 0.068
636
SYS003 Systolic Heart Failure 50 0.068
637
TRD006 Tardive Dyskinesia 55 0.068
638
ADP007 Adie Pupil 39 0.068
639
MSC190 Muscular Disease 51 0.068
640
ATX010 Ataxia Neuropathy Spectrum 38 0.068
641
HRY003 Hairy Cell Leukemia 55 0.067
642
OLG022 Oligoasthenoteratozoospermia 36 0.067
643
GSG001 Gas Gangrene 50 0.067
644
P BRB001 Beriberi 44 0.067
645
ACT064 Acute Necrotizing Encephalitis 32 0.067
646
ORL005 Oral Candidiasis 56 0.067
647
SCH003 Schizophreniform Disorder 56 0.067
648
PRM329 Premature Aging 39 0.067
649
AND002 Androgen Insensitivity Syndrome 66 0.067
650
LST001 Listeriosis 54 0.066
651
P CRN026 Corneal Edema 40 0.066
652
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 52 0.066
653
CRY003 Cryptosporidiosis 54 0.065
654
BLD137 Blood Group--Ahonen 19 0.065
655
PRN011 Pernicious Anemia 52 0.065
656
DRY001 Dry Eye Syndrome 47 0.065
657
P AGN002 Agnosia 54 0.065
658
CRT033 Corticobasal Degeneration 55 0.064
659
P HMC002 Homocystinuria 54 0.064
660
P MTR012 Mitral Valve Disease 57 0.064
661
PRP001 Propionic Acidemia 66 0.063
662
MLD001 Melioidosis 67 0.063
663
ORL013 Oral Lichen Planus 45 0.063
664
CND006 Candida Glabrata 32 0.063
665
SCT002 Scotoma 43 0.063
666
ANT018 Anthracosis 48 0.063
667
HNM002 Hinman Syndrome 29 0.063
668
HYP264 Hypertonia 38 0.063
669
DBT006 Diabetic Macular Edema 48 0.062
670
P MPL001 Maple Syrup Urine Disease 69 0.062
671
KHN001 Kuhnt-Junius Degeneration 48 0.062
672
GRD007 Grade Iii Astrocytoma 59 0.062
673
OLG003 Oligohydramnios 52 0.062
674
CNZ011 Coenzyme Q10 Deficiency, Primary, 8 24 0.062
675
c INF145 Infantile Liver Failure Syndrome 1 50 0.062
676
c HYP555 Hypertriglyceridemia, Transient Infantile 39 0.061
677
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 0.061
678
HPT082 Hepatic Adenomas, Familial 37 0.061
679
FML037 Female Breast Cancer 52 0.061
680
OST115 Osteonecrosis of the Jaw 39 0.061
681
MXD026 Mixed Glioma 45 0.061
682
P PNM006 Pneumoconiosis 55 0.061
683
NCR015 Necrotizing Autoimmune Myopathy 26 0.061
684
EPC002 Epicondylitis 41 0.060
685
P PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 48 0.060
686
c HNT011 Huntington Disease-Like 3 38 0.060
687
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 54 0.060
688
LBR030 Leber Optic Atrophy 60 0.060
689
GLS018 Glass Syndrome 53 0.060
690
P PRD021 Periodic Paralysis 46 0.060
691
OCL015 Oculomotor Apraxia 35 0.060
692
GRD001 Giardiasis 45 0.060
693
c PRM092 Primary Lateral Sclerosis, Adult, 1 52 0.060
694
ONC007 Oncocytoma 48 0.060
695
c HNT004 Huntington Disease-Like 2 49 0.060
696
c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 44 0.060
697
GLM044 Glomerular Disease 39 0.060
698
P RNL015 Renal Hypertension 48 0.059
699
P NRN021 Neuronal Ceroid Lipofuscinosis 63 0.059
700
MYF002 Myofascial Pain Syndrome 42 0.059
701
MYC088 Mycobacterium Avium Complex Infections 29 0.059
702
LPR001 Lepromatous Leprosy 50 0.059
703
c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 40 0.059
704
P ALP106 Alport Syndrome 1, X-Linked 55 0.059
705
P MGR001 Migraine Without Aura 48 0.059
706
c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 42 0.059
707
P OCL013 Oculodentodigital Dysplasia 69 0.059
708
GST009 Gastroschisis 54 0.059
709
SDD008 Sudden Sensorineural Hearing Loss 43 0.058
710
RNL077 Renal Fibrosis 47 0.058
711
c PLY105 Polycystic Ovary Syndrome 1 38 0.058
712
LYM007 Lymphangioleiomyomatosis 68 0.058
713
c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 66 0.058
714
P STS003 Sitosterolemia 53 0.058
715
c MYG007 Myoglobinuria, Recurrent 36 0.057
716
LPD004 Lipoid Nephrosis 47 0.057
717
CRN017 Coronary Thrombosis 47 0.057
718
P CRN025 Corneal Dystrophy 45 0.057
719
c CHR431 Chronic Venous Insufficiency 49 0.056
720
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 67 0.056
722
c PNC108 Pancreatitis, Hereditary 69 0.056
723
KRT013 Keratolytic Winter Erythema 46 0.056
724
ISV001 Isovaleric Acidemia 56 0.055
725
DLS001 Delusional Disorder 48 0.055
726
GLS001 Gliosarcoma 54 0.055
727
P CLL015 Collagen Disease 42 0.055
728
P DYS021 Dysautonomia 39 0.055
729
c CNT035 Central Nervous System Disease 54 0.055
730
RMS001 Rem Sleep Behavior Disorder 44 0.055
731
P ALP004 Alport Syndrome 68 0.055
732
HTT002 Hutterite Cerebroosteonephrodysplasia Syndrome 27 0.055
733
MCP033 Mucopolysaccharidoses 38 0.055
734
STT009 Sutton Disease 2 30 0.055
735
ABT001 Abetalipoproteinemia 67 0.055
736
MYC019 Mycobacterium Marinum 29 0.055
737
P LFT003 Left Ventricular Noncompaction 55 0.055
738
CCN001 Cocaine Dependence 48 0.054
739
CYT018 Cytochrome P450 2d6 Variant 27 0.054
740
c HYP843 Hypoalphalipoproteinemia, Primary, 2 50 0.054
741
ANV001 Anovulation 47 0.054
742
c CHR682 Chronic Bilirubin Encephalopathy 38 0.054
743
P NRD007 Neurodegeneration with Brain Iron Accumulation 52 0.054
744
RTN193 Retinitis Pigmentosa and Erythrocytic Microcytosis 52 0.054
745
MLL001 Molluscum Contagiosum 49 0.054
747
c PYR010 Peyronie's Disease 50 0.054
748
P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 56 0.054
749
TST044 Testicular Torsion 47 0.053
750
P INT099 Intrahepatic Cholestasis of Pregnancy 49 0.053
751
ADR005 Adrenal Carcinoma 58 0.053
752
SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 32 0.053
753
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 49 0.053
754
GLC006 Galactosemia 65 0.053
756
VTM033 Vitamin K Deficiency Bleeding 48 0.053
757
NTR046 Neutrophil Migration 50 0.052
758
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 43 0.052
759
c HRD026 Hereditary Ataxia 48 0.052
760
c PRG020 Paragangliomas 3 38 0.052
761
P STR092 Striatal Degeneration, Autosomal Dominant 2 43 0.052
762
RTN003 Retinal Ischemia 50 0.052
763
ART001 Arterial Tortuosity Syndrome 66 0.052
764
XNT003 Xanthomatosis 49 0.052
765
c ACT076 Acute Myocarditis 46 0.052
766
MSC193 Muscular Lipidosis 23 0.052
767
P DRM007 Dermatitis Herpetiformis 54 0.052
768
P MGL001 Megaloblastic Anemia 55 0.052
769
P AXN002 Axenfeld-Rieger Syndrome 58 0.051
770
P RST002 Restrictive Cardiomyopathy 56 0.051
771
c CWD006 Cowden Syndrome 1 77 0.051
772
HYP189 Hypoadrenalism 37 0.051
773
c DRM040 Dermatitis Herpetiformis, Familial 35 0.051
774
MTC097 Mitochondrial Complex Iv Deficiency 56 0.051
775
DST006 Diastolic Heart Failure 44 0.051
776
MST004 Mast Cell Neoplasm 38 0.051
777
LNG015 Lingual-Facial-Buccal Dyskinesia 47 0.051
778
c OPT053 Optic Atrophy 1 54 0.050
779
CHR176 Chromophil Renal Cell Carcinoma 23 0.050
780
EXT007 Extracutaneous Mastocytoma 38 0.050
781
LWC002 Lowe Oculocerebrorenal Syndrome 66 0.050
782
P CCK001 Cockayne Syndrome 66 0.050
783
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 0.050
784
CYC008 Cyclic Vomiting Syndrome 47 0.050
785
c SYS043 Systemic Lupus Erythematosus 1 38 0.050
786
MYC005 Myocardial Stunning 46 0.050
787
ACN019 Acanthamoeba Keratitis 31 0.050
788
CRB196 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 43 0.050
789
MVL001 Mevalonic Aciduria 64 0.050
790
MTC020 Mitochondrial Complex Ii Deficiency 54 0.050
791
ADJ001 Adjustment Disorder 41 0.049
792
P PRM002 Primary Hyperoxaluria 62 0.049
793
MCL027 Macular Dystrophy, Dominant Cystoid 50 0.049
794
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 60 0.049
795
c 3MT007 3-Methylglutaconic Aciduria 36 0.049
796
P CRN024 Corneal Disease 43 0.049
797
ALC009 Alcoholic Liver Cirrhosis 53 0.049
798
ACR008 Acrocallosal Syndrome 68 0.049
799
MCN008 Mucinous Cystadenocarcinoma 40 0.049
800
c INT072 Intestinal Pseudo-Obstruction 56 0.049
801
PRL008 Paralytic Ileus 44 0.049
802
P HYP050 Hyperinsulinemic Hypoglycemia 54 0.049
803
HRT015 Heritable Pulmonary Arterial Hypertension 44 0.049
804
DBT090 Diabetes and Deafness, Maternally Inherited 45 0.049
805
AND005 Androgen Insensitivity Syndrome, Mild 22 0.049
806
P PRC031 Preeclampsia/eclampsia 1 37 0.049
807
CYS010 Cystinosis 60 0.048
808
P EST001 Estrogen-Receptor Positive Breast Cancer 49 0.048
809
P MCH002 Machado-Joseph Disease 63 0.048
810
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 34 0.048
811
P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 45 0.048
812
CLS047 Classic Progressive Supranuclear Palsy Syndrome 30 0.048
813
CTS005 Catastrophic Antiphospholipid Syndrome 42 0.048
814
ART004 Aortic Atherosclerosis 48 0.048
815
c ATS013 Autosomal Recessive Congenital Ichthyosis 66 0.048
816
BTN004 Biotin Deficiency 38 0.048
817
CRB090 Cerebral Hypoxia 43 0.048
818
MYC015 Mycobacterium Fortuitum 31 0.048
819
THY121 Thyroid Gland Anaplastic Carcinoma 63 0.048
820
DBT002 Diabetic Autonomic Neuropathy 41 0.047
821
SMT004 Smith-Lemli-Opitz Syndrome 69 0.047
822
PCK003 Pick Disease of Brain 68 0.047
823
P HMP006 Hemiplegic Migraine 44 0.047
824
c CLB022 Coloboma, Ocular, Autosomal Recessive 28 0.047
825
DYS030 Dysferlinopathy 38 0.047
826
c 3MT015 3-Methylglutaconic Aciduria, Type I 51 0.047
827
MTR007 Motor Peripheral Neuropathy 40 0.047
828
P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 57 0.047
829
DMN031 Dementia, Lewy Body 65 0.047
830
CRB027 Cerebellar Disease 45 0.047
831
c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40 0.046
832
c CHR098 Chronic Pyelonephritis 35 0.046
833
CHL028 Childhood Type Dermatomyositis 60 0.046
834
PSD088 Pseudobulbar Affect 36 0.046
835
QLT008 Qualitative or Quantitative Defects of Dysferlin 27 0.046
836
P CWD010 Cowden Syndrome 66 0.045
837
P MYC026 Myoclonus Epilepsy 35 0.045
838
P HYP838 Hyperlipidemia, Familial Combined, 3 56 0.045
839
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 47 0.045
840
c HRD088 Hereditary Neuropathies 37 0.045
841
c OPT051 Opitz Gbbb Syndrome, Type I 46 0.045
842
BRT005 Barth Syndrome 53 0.045
843
MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 53 0.045
844
HYP006 Hypertensive Heart Disease 49 0.045
845
NRV004 Nerve Compression Syndrome 38 0.045
846
P MCK013 Meckel Syndrome, Type 1 65 0.045
847
KWS001 Kwashiorkor 45 0.045
848
HPT067 Hepatocellular Adenoma 43 0.045
849
OLG001 Oligospermia 45 0.044
850
P OVR096 Overlap Myositis 27 0.044
851
CGN006 Cogan Syndrome 49 0.044
852
P HYP802 Hypocalcemia, Autosomal Dominant 1 68 0.044
853
ANL018 Analbuminemia 54 0.044
854
ACT162 Acute Sensory Ataxic Neuropathy 26 0.044
855
PRX001 Peroxisomal Disease 46 0.044
856
CRB011 Cerebrotendinous Xanthomatosis 63 0.043
857
CRY008 Cryopyrin-Associated Periodic Syndrome 47 0.043
858
P MTC010 Mitochondrial Dna Depletion Syndrome 45 0.043
859
P CRD224 Cardiofaciocutaneous Syndrome 1 70 0.043
860
c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 64 0.043
861
P SDR003 Sideroblastic Anemia 49 0.043
862
c NPH049 Nephrotic Syndrome, Type 2 48 0.043
863
P MRN003 Marinesco-Sjogren Syndrome 52 0.043
864
LSC001 Lesch-Nyhan Syndrome 62 0.043
865
OBS529 Obsolete: Combined Hyperlipidemia 22 0.043
866
FRS002 Frasier Syndrome 53 0.043
867
c GLC078 Glaucoma 1, Open Angle, F 35 0.043
868
c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 47 0.042
869
P ACR001 Aicardi-Goutieres Syndrome 65 0.042
870
P CHN044 Chondrodysplasia Punctata Syndrome 43 0.042
871
URT049 Urate Oxidase, Pseudogene 25 0.042
872
OCC006 Occipital Horn Syndrome 52 0.042
873
PYR009 Pyridoxine Deficiency Anemia 34 0.042
874
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 63 0.042
875
P OLV001 Olivopontocerebellar Atrophy 52 0.042
876
c MCP001 Mucopolysaccharidosis Iii 65 0.042
877
RSS026 Roussy-Levy Hereditary Areflexic Dystasia 48 0.042
878
CHR177 Chromophobe Renal Cell Carcinoma 56 0.042
879
INT276 Interatrial Communication 42 0.042
880
NRN005 Neuronal Ceroid-Lipofuscinoses 41 0.042
881
c NRD016 Neurodegeneration with Brain Iron Accumulation 6 48 0.042
882
ULC007 Ulcerative Stomatitis 39 0.042
883
P PLL002 Pellagra 45 0.042
884
APR006 Apert Syndrome 70 0.042
885
ALR002 Al-Raqad Syndrome 34 0.041
886
HYP458 Hyper Ige Syndrome 54 0.041
887
P CND005 Cone Dystrophy 41 0.041
888
ADN075 Adenomyoma 36 0.041
889
CRZ001 Crouzon Syndrome 68 0.041
890
VNT035 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy 62 0.041
891
P OVR106 Ovarian Clear Cell Carcinoma 51 0.041
892
ACT228 Acute Radiation Syndrome 29 0.041
893
END028 Endemic Goiter 37 0.041
894
c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66 0.040
895
VTM028 Vitamin E, Familial Isolated Deficiency of 52 0.040
896
HMT008 Hematuria, Benign Familial 53 0.040
897
MCR017 Macrocytic Anemia 41 0.040
898
MTC027 Mitochondrial Trifunctional Protein Deficiency 56 0.040
899
LPT006 Leptin Receptor Deficiency 47 0.040
900
BHR001 Behr Syndrome 49 0.040
901
c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 48 0.040
902
c MCP045 Mucopolysaccharidosis, Type Iiic 40 0.040
903
c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 52 0.040
904
CNZ002 Coenzyme Q Cytochrome C Reductase Deficiency of 1 0.040
905
MYP139 Myopathy, Proximal, and Ophthalmoplegia 53 0.040
906
FCH001 Fuchs' Endothelial Dystrophy 46 0.040
907
PYR016 Pyridoxine Deficiency 30 0.040
908
c FTL070 Fetal Akinesia Deformation Sequence 2 33 0.039
909
HMM004 Hamamy Syndrome 37 0.039
910
EXF001 Exfoliation Syndrome 54 0.039
911
DFF021 Diffuse Mesangial Sclerosis 42 0.039
912
OVR093 Overhydrated Hereditary Stomatocytosis 44 0.039
913
P STR001 Striatonigral Degeneration 38 0.039
914
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 61 0.039
915
LPD009 Lipid Storage Disease 48 0.039
916
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 59 0.038
917
c PRD013 Periodic Fever, Familial, Autosomal Dominant 65 0.038
918
PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 33 0.038
919
BCK003 Background Diabetic Retinopathy 44 0.038
920
c PRG001 Progressive Muscular Atrophy 42 0.038
921
BTY001 Butyrylcholinesterase Deficiency 52 0.038
922
RBF001 Riboflavin Deficiency 45 0.038
923
PDT043 Pediatric Acute-Onset Neuropsychiatric Syndrome 26 0.038
924
STH001 Saethre-Chotzen Syndrome 67 0.037
925
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 60 0.037
926
c NPH055 Nephrotic Syndrome, Type 1 55 0.037
927
CLD007 Cold Agglutinin Disease 45 0.037
928
c GLY003 Glycogen Storage Disease Iii 58 0.037
929
CYN003 Cyanide Poisoning 24 0.037
930
c HYP794 Hyperoxaluria, Primary, Type I 48 0.037
931
NRL002 Neurilemmomatosis 51 0.037
932
c PTT056 Pituitary Adenoma 1, Multiple Types 58 0.037
933
NPH001 Nephrogenic Adenoma 31 0.037
934
RHS001 Rh Isoimmunization 32 0.037
935
OBS524 Obsolete: Benign Exophthalmos Syndrome 15 0.037
936
DBF001 D-Bifunctional Protein Deficiency 56 0.037
937
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 49 0.037
938
LGH017 Leigh Syndrome with Nephrotic Syndrome 23 0.036
939
c ACR116 Aicardi-Goutieres Syndrome 1 51 0.036
940
CRP032 Corpus Callosum, Agenesis of 49 0.036
941
c SPN301 Spinocerebellar Ataxia 2 59 0.036
942
ICH054 Ichthyosis, X-Linked 53 0.036
943
DBT081 Diabetic Encephalopathy 36 0.036
944
RFS006 Refsum Disease, Classic 63 0.036
945
RNL024 Renal Glucosuria 57 0.036
946
LKS001 Leukostasis 44 0.036
947
P OCY003 Oocyte Maturation Defect 1 45 0.036
948
ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 49 0.036
949
P RHZ001 Rhizomelic Chondrodysplasia Punctata 54 0.036
950
MST021 Meester-Loeys Syndrome 33 0.036
951
LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 63 0.036
952
FRC001 Fructose-1,6-Bisphosphatase Deficiency 48 0.036
953
ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 59 0.036
954
MTC015 Mitochondrial Dna-Associated Leigh Syndrome and Narp 24 0.036
955
P END084 Endocrine System Disease 44 0.035
956
NCL007 Nuclear Gene-Encoded Leigh Syndrome 23 0.035
957
CRB009 Cerebritis 36 0.035
958
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.035
959
c SPS213 Spastic Paraplegia 75, Autosomal Recessive 43 0.035
960
c CNT101 Central Congenital Hypothyroidism 34 0.035
961
ACT133 Acetylation, Slow 23 0.035
962
GLC024 Glucose Transporter Type 1 Deficiency Syndrome 40 0.034
963
HYP026 Hypoglycemic Coma 38 0.034
964
TST015 Testicular Disease 43 0.034
965
P HYP121 Hypoalphalipoproteinemia 43 0.034
966
CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 64 0.034
967
HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 45 0.034
968
URC004 Urachal Cancer 24 0.034
969
c EST002 Estrogen-Receptor Negative Breast Cancer 44 0.034
970
MNN024 Meningitis and Encephalitis 29 0.034
971
c RNG015 Ring Chromosome 2 26 0.034
972
c MYS051 Myasthenic Syndrome, Congenital, 5 57 0.033
973
c 2HY001 2-Hydroxyglutaric Aciduria 40 0.033
974
MNC019 Monocarboxylate Transporter 1 Deficiency 46 0.033
975
FRS012 First-Degree Atrioventricular Block 41 0.033
976
c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 44 0.033
977
PGT003 Paget Disease, Extramammary 46 0.033
978
CRB159 Cerebral Visual Impairment 35 0.033
979
CHL109 Childhood Apraxia of Speech 44 0.033
980
c RTN047 Retinitis Pigmentosa 18 44 0.033
981
HRT040 Hirata Disease 37 0.033
982
SPR067 Sporadic Adult-Onset Ataxia of Unknown Etiology 24 0.033
983
PRR007 Perry Syndrome 54 0.033
984
CRB008 Cerebral Atherosclerosis 44 0.032
985
GRN004 Granulomatous Amebic Encephalitis 29 0.032
986
GLC004 Galactokinase Deficiency 51 0.032
987
ORT008 Orotic Aciduria 54 0.032
988
FCL041 Focal Myositis 38 0.032
989
NRN002 Neuronitis 33 0.031
990
c L2H001 L-2-Hydroxyglutaric Aciduria 49 0.031
991
P SPN429 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 51 0.031
992
URC003 Urachal Adenocarcinoma 31 0.031
993
GNT018 Gianotti Crosti Syndrome 24 0.031
994
GRS011 Gerstmann-Straussler Disease 55 0.031
995
NNF007 Non-Functioning Pituitary Adenoma 42 0.031
996
RVL002 Ruvalcaba Syndrome 36 0.031
997
c INF065 Infantile Hypotonia 23 0.031
998
c THR037 Thrombocytopenia 2 37 0.030
999
GNT167 Genetic Obesity 34 0.030
1000
c THY056 Thyroid Dyshormonogenesis 3 28 0.030
1001
CHN055 Chanarin-Dorfman Syndrome 61 0.030
1002
P SHR029 Short Syndrome 57 0.030
1003
P HRT017 Heart Tumor 25 0.030
1004
PRS131 Prostate Cancer/brain Cancer Susceptibility 25 0.029
1005
c MYT027 Myotonia Congenita, Autosomal Dominant 35 0.029
1006
MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 37 0.029
1007
DXR001 Doxorubicin Induced Cardiomyopathy 33 0.029
1008
MTH040 Methylmalonyl-Coa Epimerase Deficiency 25 0.029
1009
MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 37 0.029
1010
GLC011 Galactose Epimerase Deficiency 48 0.028
1011
P HRD144 Hereditary Mixed Polyposis Syndrome 39 0.028
1012
NRN008 Neuronal Intranuclear Inclusion Disease 45 0.028
1013
GLT018 Glut1 Deficiency Syndrome 1 42 0.028
1014
STT044 Statin Toxicity 11 0.028
1015
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 50 0.028
1016
c FCL025 Focal Segmental Glomerulosclerosis 1 47 0.028
1017
BRR002 Barrett's Adenocarcinoma 35 0.028
1018
DMT001 Dimethylglycine Dehydrogenase Deficiency 27 0.028
1019
c CRD244 Cardiomyopathy, Dilated, 2c 21 0.028
1020
ADN090 Adenosylcobalamin Deficiency 21 0.028
1021
c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 51 0.028
1022
MTH078 Methylmalonic Aciduria, Cblb Type 50 0.028
1023
HYP348 Hyperglycinuria 41 0.028
1024
PST027 Postencephalitic Parkinson Disease 45 0.027
1025
MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 27 0.027
1026
TTR005 Tetrahydrobiopterin Deficiency 46 0.027
1027
c SPN314 Spinocerebellar Ataxia 10 42 0.027
1028
BLD163 Blood Group, Dombrock System 26 0.027
1029
SNG007 Sengers Syndrome 46 0.027
1030
3MT011 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 29 0.027
1031
MDM005 Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency 14 0.027
1032
c RNG021 Ring Chromosome 5 23 0.026
1033
RDC010 Reducing Body Myopathy 31 0.026
1034
MTH077 Methylmalonic Aciduria, Cbla Type 42 0.026
1035
FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 33 0.026
1036
c MTC054 Mitochondrial Dna Depletion Syndrome 7 50 0.026
1037
ISL119 Isolated Optic Neuritis 30 0.026
1039
c PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 46 0.025
1040
CHR515 Chronic Atrial and Intestinal Dysrhythmia 44 0.025
1041
c BLD140 Blood Group, I System 30 0.025
1042
MTC036 Mitochondrial Membrane Protein-Associated Neurodegeneration 25 0.025
1043
BLD165 Blood Group, Colton System 23 0.025
1044
c HYP602 Hyperoxaluria, Primary, Type Ii 39 0.025
1045
INT258 Interstitial Nephritis, Karyomegalic 44 0.025
1046
PNG001 Pinguecula 32 0.025
1047
c MLG036 Malignant Spiradenoma 26 0.025
1048
c SPN335 Spinocerebellar Ataxia Type 1 with Axonal Neuropathy 38 0.025
1049
c PRK090 Parkinson Disease 3, Autosomal Dominant 37 0.024
1050
CMB011 Combined Malonic and Methylmalonic Aciduria 35 0.024
1051
DGL002 D-Glyceric Aciduria 33 0.024
1052
MTC008 Mitochondrial Complex Iii Deficiency 32 0.024
1053
P PRD017 Periodic Paralyses 25 0.024
1054
MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 35 0.024
1055
3HY010 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 34 0.024
1056
c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 28 0.024
1057
c SPN398 Spinal Muscular Atrophy, Type Iv 42 0.024
1058
3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 29 0.024
1059
3MT008 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency 28 0.024
1060
ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 38 0.024
1061
c MTC060 Mitochondrial Dna Depletion Syndrome 9 48 0.023
1062
P HYP769 Hyperlysinemia, Type I 43 0.023
1063
PRK088 Parkinson Disease, Mitochondrial 24 0.023
1064
P MCR137 Microphthalmia, Isolated 2 41 0.023
1065
c ATR062 Atrial Septal Defect 1 40 0.023
1066
P PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 36 0.023
1067
24D001