Search results for Coenzyme A

800 hits were found for Coenzyme A

# Family MCID Name MIFTS Score
1
MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 31 4.507
2
VLC002 Vlcad Deficiency 58 4.315
3
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60 3.192
4
MTH025 Methylmalonyl-Coenzyme a Mutase Deficiency 8 3.086
5
3HY003 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency 13 2.637
6
GLT021 Glutaricaciduria, Type I 46 2.570
7
LCH005 Lchad Deficiency 41 2.521
8
P GLT023 Glutaric Acidemia Iic 52 2.482
9
ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 39 2.481
10
3HY004 3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 31 1.905
11
HMG006 Hmg-Coa Lyase Deficiency 34 1.797
12
ACY006 Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of 42 1.775
13
ALP077 Alpha-Methylacetoacetic Aciduria 33 1.770
14
3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 44 1.759
15
ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 44 1.757
16
2MT004 2-Methylbutyrylglycinuria 32 1.757
17
MLN011 Malonyl-Coa Decarboxylase Deficiency 31 1.757
18
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 50 1.753
19
SCC007 Succinate-Coa Ligase Deficiency 15 1.747
20
P HPT021 Hepatitis 69 0.278
21
P BRS047 Breast Cancer 100 0.237
22
P LKM002 Leukemia 71 0.222
23
PRS047 Prostatitis 56 0.216
24
P LYM118 Lymphoma 69 0.210
25
END072 Endotheliitis 42 0.206
26
P ADN016 Adenocarcinoma 69 0.203
27
P PNC044 Pancreatitis 61 0.185
28
P MYP004 Myopathy 67 0.182
29
P PRS040 Prostate Cancer 90 0.175
30
P CRD011 Cardiomyopathy 68 0.169
31
CRB009 Cerebritis 39 0.168
32
NRN002 Neuronitis 41 0.165
33
P OBS005 Obesity 92 0.165
34
P ATX004 Ataxia 53 0.164
35
P NRP001 Neuropathy 59 0.162
36
P THY032 Thyroiditis 54 0.161
37
P ART022 Arthritis 75 0.160
38
P HPT023 Hepatocellular Carcinoma 92 0.156
39
P ENC018 Encephalopathy 59 0.156
40
P HRT032 Heart Disease 75 0.155
41
ART111 Artery Disease 55 0.154
42
MLN008 Melanoma 62 0.153
43
P LNG032 Lung Cancer 95 0.152
44
P CRN211 Coronary Artery Disease 74 0.147
45
P MYC007 Myocardial Infarction 79 0.145
46
RTN023 Retinitis 50 0.143
47
THR024 Thrombosis 57 0.143
48
ATH003 Atherosclerosis 65 0.142
49
P CLR023 Colorectal Cancer 97 0.142
50
TBR010 Tuberculosis 70 0.139
51
ISC004 Ischemia 61 0.138
52
P INF032 Infertility 59 0.136
53
ADN018 Adenoma 58 0.134
54
P SCH015 Schizophrenia 77 0.133
55
DMN002 Dementia 65 0.128
56
P PNM007 Pneumonia 68 0.127
57
P RNL014 Renal Cell Carcinoma 82 0.120
58
GST053 Gastric Cancer 78 0.120
59
NRM005 Neuromuscular Disease 56 0.119
60
MVM001 Movement Disease 49 0.118
61
c HPT001 Hepatitis C 68 0.118
62
LPD008 Lipid Metabolism Disorder 58 0.118
63
PRP027 Peripheral Vascular Disease 68 0.116
64
P LVR013 Liver Disease 75 0.116
65
CNZ001 Coenzyme Q10 Deficiency Disease 34 0.115
66
P KDN018 Kidney Disease 66 0.115
67
P MSC005 Muscular Dystrophy 65 0.115
68
CNG034 Congestive Heart Failure 72 0.115
69
NTR005 Nutritional Deficiency Disease 36 0.115
70
P NRV007 Nervous System Disease 71 0.114
71
P OVR042 Ovarian Cancer 76 0.113
72
P EPL164 Epilepsy 66 0.113
73
HDC001 Headache 54 0.111
74
ACD009 Acid-Labile Subunit, Deficiency of 45 0.110
75
c PND001 Pain Disorder 54 0.109
76
P DBT085 Diabetes Mellitus, Insulin-Dependent 80 0.108
77
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80 0.108
78
DSS008 Disease of Mental Health 52 0.107
79
GLC008 Glucose Metabolism Disease 42 0.107
80
HYP266 Hypoxia 56 0.106
81
CYS001 Cystic Fibrosis 83 0.106
82
BLD054 Blood Protein Disease 37 0.106
83
P PNC035 Pancreatic Cancer 87 0.105
84
P MSC033 Muscle Disorders 52 0.105
85
c CNT035 Central Nervous System Disease 60 0.104
86
SKN016 Skin Disease 66 0.104
87
MTH009 Mouth Disease 61 0.104
88
P CRB042 Cerebellar Ataxia 63 0.103
89
ISC006 Ischemic Heart Disease 68 0.102
90
BSL008 Basal Ganglia Disease 40 0.102
91
P GLM045 Glioma 60 0.100
92
ART021 Arteriosclerosis 58 0.100
93
c HPT073 Hepatitis C Virus 73 0.099
94
c HPT016 Hepatitis B 64 0.099
95
MDD011 Mood Disorder 61 0.099
96
ANX002 Anxiety Disorder 67 0.099
97
ORL011 Oral Cancer 56 0.099
98
PRT036 Peritonitis 63 0.098
99
P ALZ034 Alzheimer Disease 92 0.097
100
c HYP595 Hypertension, Essential 69 0.097
101
P DRR001 Diarrhea 60 0.096
102
P PRK057 Parkinson Disease, Late-Onset 70 0.095
103
VSC007 Vascular Disease 67 0.095
104
P HYP071 Hypersensitivity Reaction Type Ii Disease 49 0.095
105
c CRN172 Coronary Heart Disease 3 19 0.094
106
HYP056 Hypoglycemia 61 0.093
107
LRN003 Learning Disability 49 0.093
108
BRT030 Birth Defects 43 0.093
109
END040 Endogenous Depression 53 0.093
110
P PSR002 Psoriasis 61 0.092
111
MLN007 Male Infertility 55 0.092
112
P NRB001 Neuroblastoma 70 0.092
113
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 36 0.092
114
STR067 Stroke, Ischemic 75 0.092
115
CSY001 C Syndrome 50 0.092
116
LNG099 Lung Disease 64 0.092
117
P ORL007 Oral Cavity Cancer 59 0.092
118
FML039 Female Reproductive System Disease 48 0.092
119
MDY003 Mody, Type Ii 36 0.091
120
SXL003 Sexual Disorder 42 0.091
121
BRN106 Burns 52 0.091
122
P THR014 Thrombocytopenia 64 0.091
123
EYD002 Eye Disease 61 0.091
124
ACR041 Acromelic Frontonasal Dysostosis 45 0.091
125
c CRN174 Coronary Heart Disease 2 20 0.091
126
SKN027 Skin Conditions 43 0.091
127
MNT002 Mental Depression 53 0.091
128
c DBT035 Diabetes Mellitus, Noninsulin-Dependent 1 25 0.091
129
ADM013 Adamantinoma of Long Bones 57 0.091
130
c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 21 0.091
131
MSC004 Muscle Tissue Disease 34 0.090
132
ATM052 Autoimmune Disease 1 25 0.090
133
TNP003 Tn Polyagglutination Syndrome, Somatic 41 0.090
134
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 66 0.089
135
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 41 0.089
136
AMY066 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 54 0.089
137
P ENC011 Encephalomyopathy 37 0.088
138
PCK002 Pick Disease 68 0.088
139
P OST002 Osteoporosis 64 0.088
140
ATM053 Autoimmune Disease 2 16 0.088
141
P NRV006 Nervous System Cancer 60 0.088
142
PRP019 Peripheral Nervous System Disease 55 0.088
143
BRS051 Breast Disease 61 0.088
144
VTM003 Vitamin Metabolic Disorder 30 0.088
145
BCK006 Back Pain 43 0.087
146
KDS001 Kid Syndrome 53 0.087
147
MLR007 Male Reproductive System Disease 34 0.087
148
P GLB002 Glioblastoma 68 0.087
149
RSP006 Respiratory System Disease 58 0.087
150
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 35 0.087
151
CNZ006 Coenzyme Q10 Deficiency, Primary, 1 28 0.087
152
P MDL005 Medulloblastoma 77 0.087
153
CHL071 Child Syndrome 58 0.087
154
P AMY004 Amyloidosis 65 0.087
155
DRG001 Drug Psychosis 38 0.087
156
C3D001 C3 Deficiency 53 0.087
157
CRB037 Cerebral Palsy 66 0.087
158
KRN002 Kearns-Sayre Syndrome 61 0.086
159
P CRN178 Coronary Heart Disease 6 21 0.086
160
P CTR002 Cataract 58 0.086
161
IMM136 Immune System Disease 51 0.086
162
MYL009 Myelodysplastic Syndrome 73 0.086
163
TTH006 Tooth Disease 52 0.086
164
BRN071 Brain Injury 52 0.086
165
GNR004 Generalized Anxiety Disorder 51 0.086
166
ETH011 Ethylmalonic Encephalopathy 56 0.085
167
P HNT016 Huntington Disease 80 0.085
168
VSC011 Vasculitis 62 0.085
169
P CHR345 Chronic Pain 50 0.085
170
P URF003 Urofacial Syndrome 1 50 0.085
171
c DLT002 Dilated Cardiomyopathy 76 0.085
172
URN009 Urinary System Disease 50 0.084
173
P BPL003 Bipolar Disorder 62 0.084
174
ALN001 Aland Island Eye Disease 45 0.084
175
P PLM037 Pulmonary Hypertension 79 0.083
176
c CRN175 Coronary Heart Disease 4 19 0.083
177
P GST049 Gastrointestinal System Cancer 60 0.083
178
P THL005 Thalassemia 64 0.083
179
LYM019 Lymphosarcoma 53 0.083
180
PHY002 Physical Disorder 43 0.083
181
P HYP086 Hypothyroidism 64 0.082
182
P MTC069 Mitochondrial Disorders 53 0.082
183
ALR002 Al-Raqad Syndrome 36 0.081
184
P ATR011 Atrial Fibrillation 66 0.081
185
P FML035 Familial Hyperlipidemia 48 0.081
186
STM006 Stomach Disease 50 0.081
187
P SPS003 Spastic Diplegia 52 0.081
188
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 46 0.081
189
GLB003 Globe Disease 32 0.081
190
P MSC003 Muscular Atrophy 50 0.081
191
P MTC004 Mitochondrial Encephalomyopathy 42 0.080
192
RPR002 Reproductive System Disease 41 0.080
193
CND002 Conduct Disorder 54 0.080
194
DCH001 Duchenne Muscular Dystrophy 79 0.080
195
P INF037 Inflammatory Bowel Disease 63 0.080
196
AYM001 Ayme-Gripp Syndrome 41 0.080
197
MJR011 Major Depressive Disorder and Accelerated Response to Antidepressant Drug Treatment 53 0.080
198
SLP005 Sleep Disorder 53 0.080
199
P PLY019 Polyneuropathy 56 0.079
200
c ACT075 Acute Myocardial Infarction 60 0.079
201
ADL002 Adult Syndrome 52 0.079
202
P BLD051 Blood Coagulation Disease 42 0.079
203
P RTN008 Retinitis Pigmentosa 80 0.078
204
P AST007 Astrocytoma 65 0.078
205
KRT004 Keratitis 71 0.078
206
EWN003 Ewing Sarcoma 66 0.078
207
BLD053 Blood Platelet Disease 46 0.078
208
ADJ001 Adjustment Disorder 38 0.078
209
P CNJ013 Conjunctivitis 64 0.077
210
P GST044 Gastritis 56 0.077
211
END030 End Stage Renal Failure 55 0.077
212
IMP003 Impaired Renal Function Disease 34 0.077
213
TST021 Testicular Germ Cell Tumor 69 0.076
214
VND001 Vein Disease 47 0.076
215
P TRM003 Tremor 54 0.076
216
CNZ004 Coenzyme Q10 Deficiency, Primary, 3 22 0.076
217
MRG013 Mirage Syndrome 29 0.076
218
P NPH012 Nephrotic Syndrome 59 0.076
219
P BLD124 Bleeding Disorder, Platelet-Type, 11 40 0.075
220
P LTR001 Lateral Sclerosis 53 0.075
221
P KDN017 Kidney Cancer 65 0.075
222
WLL006 Wells Syndrome 59 0.075
223
P ANT006 Antiphospholipid Syndrome 56 0.075
224
CRN030 Coronary Stenosis 51 0.075
225
CNZ005 Coenzyme Q10 Deficiency, Primary, 4 25 0.075
226
CNZ008 Coenzyme Q10 Deficiency, Primary, 6 24 0.075
227
ETN001 Eating Disorder 58 0.074
228
OPT006 Optic Nerve Disease 52 0.074
229
FST001 Foster-Kennedy Syndrome 31 0.074
230
P SLP006 Sleep Apnea 61 0.074
231
P INT063 Intellectual Disability 49 0.074
232
NSP002 Nasopharyngitis 40 0.074
233
c INH020 Inherited Metabolic Disorder 49 0.074
234
ATM054 Autoimmune Disease 3 15 0.074
235
PRM243 Primary Bone Cancer 29 0.074
236
P RSP003 Respiratory Failure 71 0.074
237
P OVR049 Ovarian Disease 56 0.074
238
EXF001 Exfoliation Syndrome 57 0.074
239
APR001 Apraxia 51 0.074
240
ATR060 Atrial Standstill, Digenic 51 0.074
241
BNM001 Bone Marrow Cancer 51 0.074
242
P PLN008 Peeling Skin Syndrome 45 0.073
243
c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 39 0.073
244
CNZ010 Coenzyme Q10 Deficiency, Primary, 7 22 0.073
245
SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 43 0.073
246
c CHR089 Chronic Kidney Failure 66 0.073
247
P CRN035 Cranial Nerve Palsy 46 0.073
248
TRM010 Traumatic Brain Injury 52 0.073
249
FML038 Female Reproductive Organ Cancer 50 0.073
250
c PRK025 Parkinson Disease 10 38 0.072
251
ATN002 Autonomic Nervous System Disease 48 0.072
252
GDS001 Good Syndrome 44 0.072
253
P ECL001 Eclampsia 54 0.072
254
P MYS005 Myositis 57 0.072
255
SPN369 Spinal Disease 39 0.072
256
P MTH008 Methylmalonic Acidemia 49 0.072
257
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 35 0.072
258
P PLY011 Polycystic Ovary Syndrome 65 0.072
259
SCR035 Sacral Agenesis with Vertebral Anomalies 30 0.072
260
PLC008 Placenta Disease 33 0.072
261
CHR066 Chronic Fatigue Syndrome 64 0.071
262
GRM001 Germ Cell and Embryonal Cancer 36 0.071
263
FML037 Female Breast Cancer 50 0.071
264
SPC010 Speech and Communication Disorders 41 0.071
265
P SKN013 Skin Benign Neoplasm 43 0.071
266
P HYP117 Hypertriglyceridemia 61 0.071
267
LPD004 Lipoid Nephrosis 48 0.070
268
PNC034 Pancreas Disease 58 0.070
269
c CRN214 Coronary Heart Disease 5 22 0.070
270
P HYP265 Hypotonia 38 0.070
271
P OCY001 Oocyte Maturation Defect 38 0.070
272
c PRC016 Pre-Eclampsia 56 0.070
273
PRS039 Prostate Adenocarcinoma 46 0.069
274
RDN001 Reading Disorder 34 0.069
275
BNC003 Bone Cancer 58 0.069
276
c PNC106 Pancreatic Agenesis 1 37 0.069
277
DWN001 Down Syndrome 66 0.069
278
CNS004 Constipation 57 0.069
279
TYP027 Type 1 Diabetes Mellitus 10 27 0.069
280
INC022 Inclusion-Cell Disease 46 0.069
281
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 26 0.069
282
CHL123 Chlamydia 60 0.069
283
P CHR071 Charcot-Marie-Tooth Disease 67 0.069
284
P RCK004 Rickets 61 0.069
285
OBS061 Obstructive Sleep Apnea 66 0.068
286
P EXN002 Exanthem 57 0.068
287
BNS002 Bone Structure Disease 37 0.068
288
P HYP024 Hypoparathyroidism 53 0.068
289
c PRK031 Parkinson Disease 1 51 0.068
290
END035 Endocrine Gland Cancer 49 0.068
291
KRT002 Keratomalacia 52 0.068
292
OCL009 Ocular Cancer 59 0.067
293
P PLM036 Pulmonary Fibrosis 71 0.067
294
BNF002 Bone Fracture 50 0.067
295
ATT013 Attention Deficit-Hyperactivity Disorder 69 0.067
296
END057 Endometrial Cancer 75 0.067
297
SPC003 Specific Developmental Disorder 38 0.067
298
c TRC078 Trichohepatoenteric Syndrome 2 29 0.067
299
CRD118 Cardiovascular Cancer 44 0.067
300
MLT021 Multiple System Atrophy 70 0.066
301
LKC003 Leukocyte Disease 43 0.066
302
c CRN173 Coronary Heart Disease 8 18 0.066
303
PRP021 Peripheral Nervous System Neoplasm 46 0.066
304
HDN002 Head Injury 45 0.066
305
c ACT027 Acute Pancreatitis 57 0.066
306
P OVR046 Ovarian Cyst 51 0.066
307
P GRV001 Graves' Disease 59 0.066
308
P UTR038 Uterine Disease 37 0.066
309
BRN028 Brain Cancer 70 0.066
310
KRT006 Keratoconjunctivitis 52 0.065
311
P TBR001 Tuberous Sclerosis 67 0.065
312
CRN031 Cranial Nerve Disease 40 0.065
313
CNZ009 Coenzyme Q10 Deficiency, Primary, 5 24 0.065
314
RTN018 Retinal Disease 53 0.064
315
c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 21 0.064
316
P HYP607 Hypercholesterolemia, Familial 76 0.064
317
P HYP060 Hyperinsulinism 58 0.064
318
SPN186 Spinal Cord Injury 63 0.064
319
c PLN018 Peeling Skin Syndrome 2 40 0.064
320
P RTN016 Retinal Degeneration 54 0.064
321
c PRM023 Pre-Malignant Neoplasm 41 0.064
322
P OPN001 Open-Angle Glaucoma 49 0.064
323
DBT084 Diabetes Mellitus, Ketosis-Prone 47 0.063
324
BRC012 Brucellosis 66 0.063
325
GND003 Gonadal Disease 39 0.063
326
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 38 0.063
327
ADT003 Auditory System Disease 40 0.063
328
P LGH007 Leigh Syndrome 70 0.063
329
MTR014 Motor Neuron Disease 58 0.062
330
P LCT001 Lactic Acidosis 51 0.062
331
BCK001 Becker Muscular Dystrophy 69 0.062
332
CRD119 Cardiac Arrest 61 0.062
333
CHL068 Cholestasis 59 0.062
334
c ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 43 0.061
335
c ABD014 Abdominal Obesity-Metabolic Syndrome 1 52 0.061
336
CRN024 Corneal Disease 44 0.061
337
c PLN017 Peeling Skin Syndrome 1 34 0.061
338
ATM014 Autoimmune Disease of Endocrine System 36 0.061
339
c CRN177 Coronary Heart Disease 7 20 0.061
340
P MCR129 Microvascular Complications of Diabetes 1 54 0.061
341
CRB025 Carbohydrate Metabolic Disorder 46 0.060
342
c PLN021 Peeling Skin Syndrome 3 29 0.060
343
P ANR007 Anorexia Nervosa 61 0.060
344
OCL006 Ocular Hypertension 48 0.060
345
P XLN007 X-Linked Disease 34 0.060
346
PRD011 Proud Syndrome 42 0.060
347
MRB003 Morbid Obesity 58 0.060
348
FTT001 Fatty Liver Disease 59 0.060
349
EYD001 Eye Degenerative Disease 30 0.059
350
GLB015 Glioblastoma Multiforme 63 0.059
351
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 27 0.059
352
NSY001 N Syndrome 36 0.059
353
c MYC058 Myocardial Infarction 2 28 0.059
354
SNS001 Sensorineural Hearing Loss 57 0.059
355
P FCL005 Focal Segmental Glomerulosclerosis 60 0.059
356
P SDD001 Sudden Infant Death Syndrome 61 0.058
357
APT001 Aptx-Related Coenzyme Q10 Deficiency 10 0.058
358
CQ2001 Coq2-Related Coenzyme Q10 Deficiency 9 0.058
359
MTC005 Mitochondrial Metabolism Disease 36 0.058
360
HYP080 Hypogonadism 53 0.058
361
MTC007 Mitochondrial Complex I Deficiency 61 0.058
362
GST023 Gastric Ulcer 56 0.058
363
c RNL016 Renal Infectious Disease 20 0.058
364
PRP080 Peripheral Artery Disease 37 0.058
365
ATM059 Autoimmune Disease 6 22 0.058
366
SYS003 Systolic Heart Failure 43 0.057
367
P HRT017 Heart Tumor 32 0.057
368
c CNT068 Central Pain Syndrome 29 0.057
369
HRT007 Heart Cancer 46 0.057
370
KRT001 Keratoconjunctivitis Sicca 59 0.057
371
CRD137 Cardiogenic Shock 46 0.057
372
ADR007 Adrenoleukodystrophy 72 0.057
373
CNG368 Congenital Adrenal Hyperplasia 62 0.057
374
HYP037 Hyperhomocysteinemia 50 0.057
375
END038 Endocrine Pancreas Disease 41 0.057
376
c ADL096 Adult Hepatocellular Carcinoma 24 0.057
377
DRY001 Dry Eye Syndrome 50 0.057
378
APH002 Aphasia 54 0.057
379
CRN017 Coronary Thrombosis 48 0.057
380
BRN080 Brain Ischemia 41 0.057
381
c ADL079 Adult Heart Tumor 16 0.057
382
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34 0.056
383
c EHL032 Ehlers-Danlos Syndrome, Type Viib 49 0.056
384
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 78 0.056
385
PLM031 Poliomyelitis 60 0.056
386
FDL002 Food Allergy 53 0.056
387
CLC006 Calcinosis 50 0.056
388
P CHR084 Chromosomal Disease 32 0.056
389
GLM004 Gliomatosis Cerebri 49 0.056
390
c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 43 0.056
391
PHN003 Phenylketonuria 72 0.056
392
DVL001 Developmental Coordination Disorder 36 0.056
393
P LMB006 Limb-Girdle Muscular Dystrophy 51 0.056
394
HYP540 Hypertension, Diastolic 39 0.056
395
SPN041 Spinal Cord Disease 51 0.056
396
MGR028 Migraine with or Without Aura 1 47 0.056
397
HYP711 Hypotonia, Ataxia, and Delayed Development Syndrome 26 0.056
398
DMY004 Demyelinating Disease 53 0.056
399
PLM122 Pulmonary Hypertension, Familial Primary, 1, with or Without Hht 57 0.056
400
P MTR012 Mitral Valve Disease 58 0.055
401
P CRB059 Cerebellar Degeneration 34 0.055
402
c PRK045 Parkinson Disease 5 40 0.055
403
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 41 0.055
404
P PRT013 Portal Hypertension 60 0.055
405
RLP002 Relapsing-Remitting Multiple Sclerosis 55 0.055
406
NNL002 Nonalcoholic Steatohepatitis 50 0.055
407
SNS003 Sensory Peripheral Neuropathy 45 0.055
408
PLY023 Polycystic Liver Disease 56 0.054
409
P MCH002 Machado-Joseph Disease 63 0.054
410
CQ7001 Coq7-Related Coenzyme Q10 Deficiency 10 0.054
411
SXD001 Sex Differentiation Disease 38 0.054
412
CNJ012 Conjunctival Disease 44 0.054
413
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 42 0.054
414
c ACT068 Acute Cystitis 50 0.054
415
c PRK030 Parkinson Disease 4 38 0.054
416
KTT001 Ketothiolase Deficiency 24 0.054
417
CGL001 Coagulation Protein Disease 14 0.054
418
FCT008 Factitious Disorder 41 0.053
419
OCL011 Ocular Motility Disease 37 0.053
420
MTR031 Motor Neuro-Ophthalmic Disorders 19 0.053
421
ATR076 Atrophic Muscular Disease 15 0.053
422
c PNC111 Pancreatic Cancer 2 28 0.053
423
c PNC094 Pancreatic Cancer 1 27 0.053
424
P CRD132 Cardiac Conduction Defect 43 0.053
425
P CRT072 Creutzfeldt-Jakob Disease 61 0.053
426
SDD007 Sudden Cardiac Death 47 0.053
427
P SHR029 Short Syndrome 58 0.053
428
CRN025 Corneal Dystrophy 42 0.052
429
P CRT033 Corticobasal Degeneration 47 0.052
430
P SPR098 Supranuclear Palsy, Progressive 56 0.052
431
CCN007 Cocoon Syndrome 45 0.052
432
P NPH009 Nephrolithiasis 60 0.051
433
FCL001 Facial Dermatosis 23 0.051
434
P HML001 Hemolytic-Uremic Syndrome 51 0.051
435
INT007 Intermediate Coronary Syndrome 50 0.051
436
DST006 Diastolic Heart Failure 46 0.051
437
TMP001 Temporal Lobe Epilepsy 50 0.051
438
OVR063 Overnutrition 50 0.051
439
CLR030 Clear Cell Renal Cell Carcinoma 53 0.051
440
EXC003 Excessive Tearing 36 0.050
441
P PRD006 Prader-Willi Syndrome 62 0.050
442
c MCL042 Macular Degeneration, Age-Related, 1 73 0.050
443
CHR078 Chorioretinitis 40 0.050
444
CCN001 Cocaine Dependence 49 0.050
445
SNS023 Sensory System Cancer 43 0.050
446
c CRN176 Coronary Heart Disease 9 18 0.050
447
PHC013 Phaeochromocytoma 41 0.050
448
CQ8001 Coq8a-Related Coenzyme Q10 Deficiency 7 0.050
449
END080 Endometrial Disease 27 0.050
450
P NRN021 Neuronal Ceroid Lipofuscinosis 59 0.049
451
P INT001 Intrahepatic Cholestasis 59 0.049
452
RNL097 Renal Artery Disease 43 0.049
453
WRN005 Wrinkles 37 0.049
454
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 42 0.049
455
c PRK059 Parkinson Disease 8 48 0.049
456
OCL069 Ocular Motor Apraxia 44 0.049
457
HPY002 H. Pylori Infection 61 0.049
458
GST078 Gastrointestinal Allergy 40 0.049
459
CRB033 Cerebral Degeneration 44 0.049
460
c CRD187 Cardiomyopathy, Dilated, 3b 33 0.049
461
THR100 Thrombocytopenic Purpura, Autoimmune 54 0.048
462
MSC072 Muscle Cancer 49 0.048
463
SPC005 Speech Disorder 41 0.048
464
c ESS001 Essential Tremor 59 0.048
465
MTS001 Mutism 43 0.048
466
P RNL015 Renal Hypertension 48 0.048
467
LCR008 Lacrimal Apparatus Disease 37 0.048
468
c PRG106 Progressive Muscular Dystrophy 40 0.048
469
MTC020 Mitochondrial Complex Ii Deficiency 50 0.048
470
P FML187 Familial Hypertension 38 0.048
471
HRD054 Hereditary Neuropathy with Liability to Pressure Palsy 33 0.048
472
XNT003 Xanthomatosis 46 0.048
473
c ATM007 Autoimmune Disease of Central Nervous System 25 0.048
474
VTM002 Vitamin B12 Deficiency 44 0.048
475
SLP001 Sleeping Sickness 48 0.048
476
c MLT093 Multiple Sclerosis 2 18 0.047
477
CCN002 Cocaine Abuse 48 0.047
478
c HRD088 Hereditary Neuropathies 40 0.047
479
c CNG031 Congenital Nervous System Abnormality 37 0.047
480
PLS010 Plasma Protein Metabolism Disease 34 0.047
481
VSC002 Vascular Dementia 54 0.047
482
OMP004 Omphalocele 50 0.047
483
c ALZ012 Alzheimer Disease 12 32 0.047
484
CRB027 Cerebellar Disease 47 0.047
485
c MCL043 Macular Degeneration, Age-Related, 2 32 0.047
486
DBT006 Diabetic Macular Edema 47 0.047
487
NRM002 Normal Pressure Hydrocephalus 50 0.046
488
ISV001 Isovaleric Acidemia 51 0.046
489
c BRN108 Branchiootic Syndrome 1 34 0.046
490
c FML001 Familial Atrial Fibrillation 58 0.046
491
PYR010 Peyronie's Disease 53 0.046
492
SCR002 Scurvy 46 0.046
493
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 36 0.046
494
SNG003 Single Ventricular Heart 22 0.046
495
PRN023 Prion Disease 48 0.046
496
P ABD016 Abdominal Obesity-Metabolic Syndrome 41 0.046
497
CLR109 Colorectal Adenocarcinoma 51 0.046
498
MYL020 Myelomeningocele 51 0.046
499
STS003 Sitosterolemia 55 0.046
500
THY030 Thyroid Gland Disease 48 0.046
501
c PNC095 Pancreatic Cancer 3 30 0.046
502
CHR073 Choreatic Disease 37 0.046
503
SMT004 Smith-Lemli-Opitz Syndrome 66 0.046
504
P HYP050 Hyperinsulinemic Hypoglycemia 56 0.046
505
P CRB019 Cerebral Amyloid Angiopathy 58 0.046
506
P PNM006 Pneumoconiosis 51 0.045
507
HRT012 Heart Valve Disease 40 0.045
508
ATX038 Ataxia and Polyneuropathy, Adult-Onset 21 0.045
509
c ALP005 Alpha Chain Disease 37 0.045
510
MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 46 0.045
511
P CLR108 Colorectal Adenoma 60 0.045
512
VRC001 Varicocele 51 0.045
513
P HMC002 Homocystinuria 50 0.045
514
P 3MT007 3-Methylglutaconic Aciduria 39 0.045
515
P CHR102 Charcot-Marie-Tooth Neuropathy 41 0.045
516
PGM005 Pigment Dispersion Syndrome 44 0.045
517
c STR092 Striatal Degeneration, Autosomal Dominant 2 27 0.045
518
AND005 Androgen Insensitivity Syndrome, Mild 16 0.044
519
P PRC031 Preeclampsia/eclampsia 1 51 0.044
520
c PRK058 Parkinson Disease 16 18 0.044
521
CHR321 Chorea and Dementia 16 0.044
522
c INT072 Intestinal Pseudo-Obstruction 46 0.044
523
INC002 Inclusion Body Myositis 66 0.044
524
TRN015 Transient Cerebral Ischemia 56 0.044
525
CRN246 Cranioosteoarthropathy 31 0.044
526
c MCR115 Microvascular Complications of Diabetes 5 57 0.044
527
FNC006 Functional Gastric Disease 32 0.044
528
c PRK022 Parkinson Disease 12 21 0.044
529
P MYG005 Myoglobinuria 35 0.044
530
P BRS044 Breast Adenocarcinoma 58 0.044
531
GLS001 Gliosarcoma 55 0.044
532
SPR038 Supranuclear Ocular Palsy 15 0.044
533
ACD004 Acdc 33 0.044
534
c MTR002 Mitral Valve Insufficiency 44 0.044
535
c MLT094 Multiple Sclerosis 3 24 0.044
536
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.044
537
P LFT003 Left Ventricular Noncompaction 50 0.044
538
ADL053 Adult Astrocytic Tumour 35 0.044
539
HRT015 Heritable Pulmonary Arterial Hypertension 45 0.044
540
PRN011 Pernicious Anemia 44 0.043
541
FNC002 Functional Diarrhea 37 0.043
542
c PNC103 Pancreatic Cancer 4 29 0.043
543
CPM001 Cap Myopathy 30 0.043
544
MSC012 Muscular Dystrophy, Duchenne and Becker Type 22 0.043
545
NPH018 Nephrogenic Systemic Fibrosis 51 0.043
546
AMN002 Amino Acid Metabolic Disorder 47 0.043
547
RTN020 Retinal Vascular Disease 48 0.043
548
MNR003 Mineral Metabolism Disease 38 0.043
549
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 31 0.043
550
P PLZ001 Pelizaeus-Merzbacher Disease 65 0.042
551
c DRR007 Diarrhea 7 31 0.042
552
DBT008 Diabetic Angiopathy 44 0.042
553
c SPR049 Supranuclear Palsy, Progressive, 2 18 0.042
554
c CNT015 Central Sleep Apnea 44 0.042
555
SMN008 Semantic Dementia 44 0.042
556
c EST002 Estrogen-Receptor Negative Breast Cancer 42 0.042
557
ALX001 Alexia 40 0.042
558
P FRD001 Friedreich Ataxia 62 0.042
559
P ANL018 Analbuminemia 44 0.041
560
PHS001 Phosphorus Metabolism Disease 38 0.041
561
HYP264 Hypertonia 39 0.041
562
P HRD021 Hereditary Sensory Neuropathy 46 0.041
563
PRS013 Prosopagnosia 31 0.041
564
c ATS308 Autosomal Dominant Cerebellar Ataxia 48 0.041
565
SPN050 Spinocerebellar Degeneration 36 0.041
566
c SCH064 Schizophrenia 10 19 0.041
567
SCR011 Scrapie 38 0.041
568
ADR005 Adrenal Carcinoma 57 0.041
569
RSS002 Roussy-Levy Syndrome 50 0.041
570
c HYP333 Hyperlipidemia, Combined, 2 15 0.041
571
P PLL002 Pellagra 45 0.040
572
ANX004 Anoxia 43 0.040
573
GRN006 Granulomatous Angiitis 40 0.040
574
HYP144 Hyperacusis 24 0.040
575
TXC002 Toxic Encephalopathy 51 0.040
576
MCL006 Macular Retinal Edema 38 0.040
577
CNT046 Central Nervous System Vasculitis 46 0.040
578
EST007 Estrogen Resistance 46 0.040
579
MTR007 Motor Peripheral Neuropathy 37 0.040
580
HRD059 Hereditary Peripheral Nervous Disorder 11 0.040
581
MCL027 Macular Dystrophy, Dominant Cystoid 36 0.040
582
MGL001 Megaloblastic Anemia 50 0.040
583
SDD008 Sudden Sensorineural Hearing Loss 31 0.040
584
NRP015 Neuropathy, Congenital Hypomyelinating 52 0.040
585
NRV004 Nerve Compression Syndrome 31 0.040
586
c PRM039 Primary Angiitis of the Central Nervous System 30 0.040
587
PTT009 Pituitary Gland Disease 47 0.039
588
P ARC016 Auriculocondylar Syndrome 1 40 0.039
589
ATS009 Autosomal Genetic Disease 35 0.039
590
MTC008 Mitochondrial Complex Iii Deficiency 40 0.039
591
c CRD093 Cardiomyopathy, Dilated, 1a 55 0.039
592
PNC065 Pinched Nerve 10 0.039
593
RMS001 Rem Sleep Behavior Disorder 41 0.039
594
BRD001 Brody Myopathy 47 0.039
595
P SDR003 Sideroblastic Anemia 40 0.039
596
c ALZ039 Alzheimer's Disease 7 26 0.039
597
TRF001 Trifunctional Protein Deficiency 55 0.038
598
c PLY105 Polycystic Ovary Syndrome 1 21 0.038
599
HYP085 Hypothalamic Disease 44 0.038
600
c OVR102 Ovarian Dysgenesis 3 22 0.038
601
MSS002 Mass Syndrome 48 0.038
602
c PRK078 Parkinson Disease 22 20 0.038
603
BHR001 Behr Syndrome 42 0.038
604
c THR037 Thrombocytopenia 2 35 0.038
605
NPH001 Nephrogenic Adenoma 30 0.038
606
CDS002 Codas Syndrome 37 0.038
607
HYP391 Hyperammonemia 38 0.038
608
c AMY091 Amyotrophic Lateral Sclerosis 1 78 0.038
609
ZLL001 Zellweger Syndrome 56 0.038
610
IRN002 Iron Metabolism Disease 41 0.038
611
CRB090 Cerebral Hypoxia 45 0.037
612
CNT067 Central Cord Syndrome 23 0.037
613
c CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 30 0.037
614
c INF023 Inflammatory Breast Carcinoma 52 0.037
615
c ALZ014 Alzheimer Disease 16 27 0.037
616
P CMM008 Communicating Hydrocephalus 36 0.037
617
P SPN301 Spinocerebellar Ataxia 2 56 0.036
618
SPN187 Spinocerebellar Atrophy 20 0.036
619
c PRM225 Primary Thrombocytopenia 39 0.036
620
SPN040 Spinal Cancer 39 0.036
621
c SPN294 Spinocerebellar Ataxia 1 55 0.036
622
CLP001 Calpainopathy 36 0.036
623
BNM008 Bone Mineral Density, Low 16 0.036
624
DYS003 Dysgraphia 36 0.036
625
ATS010 Autosomal Recessive Disease 41 0.036
626
PYR016 Pyridoxine Deficiency 36 0.036
627
HPT004 Hepatic Coma 39 0.036
628
c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 47 0.036
629
CRB001 Cerebral Lymphoma 33 0.036
630
MVL001 Mevalonic Aciduria 56 0.036
631
HRF001 Hair Follicle Neoplasm 32 0.036
632
P RTH001 Rothmund-Thomson Syndrome 55 0.036
633
c GLB007 Glioblastoma 3 31 0.036
634
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 38 0.035
635
c SPR048 Supranuclear Palsy, Progressive, 3 13 0.035
636
MTC024 Mitochondrial Genetic Disorders 14 0.035
637
ATX012 Ataxias and Cerebellar or Spinocerebellar Degeneration 8 0.035
638
c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 44 0.035
639
MTC028 Mitochondrial Cardiomyopathy 32 0.035
640
WRT002 Writing Disorder 27 0.035
641
ANS006 Anosognosia 25 0.035
642
BNN003 Bone Inflammation Disease 44 0.035
643
MTC097 Mitochondrial Complex Iv Deficiency 51 0.035
644
c PRC034 Preeclampsia/eclampsia 4 23 0.035
645
AGR018 Agraphia 36 0.035
646
c DLT001 Delta Chain Disease 13 0.035
647
PST086 Posterior Cortical Atrophy 32 0.035
648
c TRC022 Tricuspid Valve Insufficiency 33 0.035
649
RYS001 Reye Syndrome 52 0.034
650
c PRK052 Parkinson Disease 17 29 0.034
651
P ATX024 Ataxia-Oculomotor Apraxia 3 31 0.034
652
SPR100 Supranuclear Palsy, Progressive Atypical 28 0.034
653
P CRN026 Corneal Edema 42 0.034
654
VSL003 Visual Agnosia 26 0.034
655
c PRK037 Parkinson Disease 13 27 0.034
656
PRT015 Partial Third-Nerve Palsy 26 0.034
657
CMB002 Combat Disorder 21 0.034
658
HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 32 0.034
659
RDC010 Reducing Body Myopathy 31 0.034
660
c PRK070 Parkinson Disease 21 27 0.034
661
c HYP163 Hyperlipidemia Type 3 36 0.033
662
c PRC033 Preeclampsia/eclampsia 3 16 0.033
663
PRT058 Pure Autonomic Failure 52 0.033
664
P PLM040 Pulmonary Valve Disease 43 0.033
665
c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 55 0.033
666
EXP001 Expressive Language Disorder 29 0.033
667
c PRK007 Parkinson Disease Type 3 21 0.033
668
c ALZ031 Alzheimer Disease 17 32 0.033
669
IDP024 Idiopathic Inflammatory Myopathy 46 0.033
670
DBW001 Dubowitz Syndrome 41 0.033
671
c PNC108 Pancreatitis, Hereditary 58 0.033
672
GRD007 Grade Iii Astrocytoma 50 0.033
673
P OVR106 Ovarian Clear Cell Carcinoma 44 0.033
674
c MCL030 Macular Degeneration, Age-Related, 10 26 0.033
675
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 37 0.032
676
ATX003 Ataxia with Isolated Vitamin E Deficiency 40 0.032
677
c ART106 Arterial Calcification, Generalized, of Infancy, 1 39 0.032
678
PRT056 Protein R Deficiency 10 0.032
679
P DMN033 Dementia, Frontotemporal 62 0.032
680
KHN001 Kuhnt-Junius Degeneration 37 0.032
681
MLL012 Miller Syndrome 49 0.032
682
c HRD026 Hereditary Ataxia 44 0.032
683
SYN058 Synucleinopathy 38 0.032
684
CGN006 Cogan Syndrome 46 0.032
685
c PRM015 Primary Cerebellar Degeneration 34 0.032
686
c ABD013 Abdominal Obesity-Metabolic Syndrome 3 32 0.032
687
c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 48 0.031
688
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 54 0.031
689
PRX034 Peroxisome Disorders 39 0.031
690
c SPN314 Spinocerebellar Ataxia 10 49 0.031
691
c MSC120 Muscular Dystrophy, Limb-Girdle, Type 2c 47 0.031
692
TTR016 Tetra-Amelia Syndrome 36 0.031
693
c SPN105 Spinocerebellar Ataxia 4 32 0.031
694
c ALZ037 Alzheimer Disease-2 52 0.031
695
c L2H001 L-2-Hydroxyglutaric Aciduria 42 0.031
696
HRT008 Heart Conduction Disease 42 0.031
697
c ALZ042 Alzheimer's Disease 14 40 0.031
698
AKN002 Akinetic Mutism 30 0.031
699
HMC014 Homocysteinemia 35 0.031
700
HYP327 Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 33 0.031
701
FRN031 Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions 59 0.031
702
P RHZ001 Rhizomelic Chondrodysplasia Punctata 47 0.031
703
UND005 Undifferentiated Pleomorphic Sarcoma 44 0.030
704
MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 31 0.030
705
VST006 Vestibulocochlear Nerve Disease 28 0.030
706
MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 27 0.030
707
c SPN107 Spinocerebellar Ataxia 9 18 0.030
708
c NMN015 Niemann-Pick Disease, Type C1 63 0.030
709
DYS030 Dysferlinopathy 33 0.030
710
BNS003 Binswanger's Disease 42 0.030
711
RVL002 Ruvalcaba Syndrome 39 0.030
712
c FML118 Familial Creutzfeldt-Jakob Disease 28 0.030
713
MTC037 Mitochondrial Phosphate Carrier Deficiency 23 0.030
714
DMN031 Dementia, Lewy Body 58 0.030
715
c RCR002 Recurrent Hypersomnia 36 0.030
716
SML010 Simultanagnosia 22 0.030
717
MTH039 Methylmalonic Aciduria, Mut(0) Type 34 0.029
718
c AMY088 Amyotrophic Lateral Sclerosis 3 31 0.029
719
MCR017 Macrocytic Anemia 42 0.029
720
IDM001 Ideomotor Apraxia 36 0.029
721
MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 22 0.029
722
c ATS307 Autosomal Recessive Cerebellar Ataxia 30 0.029
723
MNC019 Monocarboxylate Transporter 1 Deficiency 40 0.028
724
c PRX059 Peroxisome Biogenesis Disorder 1a 39 0.028
725
GNT033 Genetic Prion Diseases 26 0.028
726
HMC020 Homocystinuria, B6-Responsive and Nonresponsive Types 43 0.028
727
P ATX010 Ataxia Neuropathy Spectrum 30 0.028
728
P NRD007 Neurodegeneration with Brain Iron Accumulation 46 0.028
729
ADP007 Adie Pupil 34 0.028
730
URC003 Urachal Adenocarcinoma 22 0.028
731
c GRN014 Grn-Related Frontotemporal Dementia 40 0.028
732
FRN030 Frontotemporal Dementia with Parkinsonism-17 29 0.028
733
PKL001 Poikiloderma with Neutropenia 40 0.027
734
MGL016 Megaloblastic Anemia-1, Finnish Type 34 0.027
735
ART014 Articulation Disorder 30 0.027
736
c SPN309 Spinocerebellar Ataxia 6 51 0.027
737
KLV001 Kluver-Bucy Syndrome 38 0.027
738
P LKN019 Leukoencephalopathy, Diffuse Hereditary, with Spheroids 49 0.027
739
SSM001 Sesame Syndrome 52 0.027
740
HMC006 Homocystinuria Due to Mthfr Deficiency 33 0.026
741
GRN016 Grant Syndrome 29 0.026
742
PSD088 Pseudobulbar Affect 28 0.026
743
INT088 Intrinsic Factor Deficiency 45 0.026
744
c GLM029 Glomerulosclerosis, Focal Segmental, 1 31 0.026
745
c SPN304 Spinocerebellar Ataxia 8 41 0.026
746
c 3MT015 3-Methylglutaconic Aciduria, Type I 40 0.026
747
NRN008 Neuronal Intranuclear Inclusion Disease 39 0.026
748
c NPH049 Nephrotic Syndrome, Type 2 27 0.026
749
HNM002 Hinman Syndrome 25 0.026
750
PRR007 Perry Syndrome 55 0.026
751
P MTH033 Methylmalonic Aciduria, Vitamin B12-Responsive 42 0.026
752
PNG001 Pinguecula 32 0.026
753
c AMY062 Amyotrophic Lateral Sclerosis 12 30 0.026
754
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 39 0.025
755
BCK003 Background Diabetic Retinopathy 34 0.025
756
HPT074 Hepatic Adenoma, Somatic 50 0.025
757
c AMY090 Amyotrophic Lateral Sclerosis 8 41 0.025
758
c AMY085 Amyotrophic Lateral Sclerosis 9 40 0.025
759
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 38 0.025
760
DBT081 Diabetic Encephalopathy 28 0.025
761
STT044 Statin Toxicity 14 0.025
762
TRN022 Transcobalamin Ii Deficiency 46 0.025
763
MTH027 Mthfr Deficiency 31 0.025
764
CMB011 Combined Malonic and Methylmalonic Aciduria 27 0.025
765
c MYT013 Myotonia Congenita, Dominant 31 0.024
766
CHR178 Chromosomal Triplication 28 0.024
767
HMN031 Human Venous Malformation 25 0.024
768
CBL006 Cblf 20 0.024
769
c SPN106 Spinocerebellar Ataxia 5 39 0.024
770
c AMY083 Amyotrophic Lateral Sclerosis 11 37 0.024
771
MTB007 Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 30 0.024
772
ASS001 Associative Agnosia 17 0.024
773
PHN002 Phonagnosia 17 0.024
774
c ERL006 Early-Onset Familial Alzheimer Disease 37 0.024
775
c FRD006 Friedreich Ataxia 2 23 0.024
776
BHV002 Behavioral Variant of Frontotemporal Dementia 39 0.023
777
c AMY063 Amyotrophic Lateral Sclerosis 20 28 0.023
778
P PRK073 Parkinson Disease Susceptibility 28 0.023
779
c PRK024 Parkinson Disease, Juvenile, Type 2 48 0.023
780
GTP001 Gait Apraxia 35 0.023
781
c ERL047 Early-Onset Parkinson Disease 34 0.023
782
NMN001 Nominal Aphasia 33 0.023
783
CNG016 Congenital Intrinsic Factor Deficiency 28 0.023
784
PRG033 Progressive Non-Fluent Aphasia 27 0.023
785
PST027 Postencephalitic Parkinson Disease 26 0.023
786
CNG039 Congenital Absence of the Vas Deferens 22 0.023
787
P FRN044 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 42 0.022
788
NRL018 Neural Tube Defects, Folate-Sensitive 36 0.022
789
c FTL032 Fatal Infantile Lactic Acidosis 14 0.022
790
CFT001 Cftr-Related Disorders 14 0.022
791
c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 39 0.022
792
c SPN098 Spinocerebellar Ataxia 25 25 0.022
793
c LKD020 Leukodystrophy, Hypomyelinating, 10 22 0.022
794
MTC025 Mitochondrial Myopathy with Diabetes 21 0.022
795
c PRK027 Parkinson Disease 15, Autosomal Recessive 46 0.021
796
FLS001 Fils Syndrome 28 0.021
797
2MT001 2-Methyl-3-Hydroxybutyric Aciduria 18 0.021
798
DMT001 Dimethylglycine Dehydrogenase Deficiency 26 0.020
799
c GLC080 Glaucoma 1, Open Angle, N 12 0.020
800
HYP657 Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency 10 0.020
Content
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