Search results for Coenzyme A

1308 hits were found for Coenzyme A

# Family MCID Name MIFTS Score
1
CNZ001 Coenzyme Q10 Deficiency Disease 41 44.502
2
CNZ006 Coenzyme Q10 Deficiency, Primary, 1 42 35.270
3
CNZ005 Coenzyme Q10 Deficiency, Primary, 4 45 32.036
4
CNZ009 Coenzyme Q10 Deficiency, Primary, 5 36 29.787
5
CNZ008 Coenzyme Q10 Deficiency, Primary, 6 33 29.735
6
CNZ004 Coenzyme Q10 Deficiency, Primary, 3 31 28.561
7
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 34 28.195
8
CNZ010 Coenzyme Q10 Deficiency, Primary, 7 41 28.049
9
MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 34 27.145
10
MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 61 23.276
11
c HYP836 Hypercholesterolemia, Familial, 1 73 22.188
12
ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 64 21.770
13
CNZ011 Coenzyme Q10 Deficiency, Primary, 8 24 21.555
14
LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 58 21.336
15
ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 59 19.189
16
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 19.144
17
MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 50 17.225
18
ALP077 Alpha-Methylacetoacetic Aciduria 52 17.105
19
P MYP004 Myopathy 67 16.844
20
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 65 16.131
21
ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 55 15.155
22
c ATR087 Atrial Standstill 1 74 15.032
23
GLT035 Glutaric Acidemia I 57 14.528
24
MTC207 Mitochondrial Complex Ii Deficiency, Nuclear Type 1 55 13.112
25
c FML021 Familial Hypercholesterolemia 72 12.475
26
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 47 12.453
27
P BRS047 Breast Cancer 98 11.738
28
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 11.421
29
3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 51 11.043
30
LPD008 Lipid Metabolism Disorder 62 10.471
31
3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 52 10.063
32
MLN011 Malonyl-Coa Decarboxylase Deficiency 37 9.953
33
2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 39 9.528
34
FTT001 Fatty Liver Disease 62 9.525
35
P RTN008 Retinitis Pigmentosa 80 9.442
36
NNL005 Non-Alcoholic Fatty Liver Disease 63 9.387
37
ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 36 9.133
38
c MGR028 Migraine with or Without Aura 1 64 9.132
39
c DLT002 Dilated Cardiomyopathy 78 9.119
40
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 9.020
41
P HYP061 Hypertrophic Cardiomyopathy 69 9.007
42
P ENC018 Encephalopathy 62 8.987
43
P SZR006 Seizure Disorder 70 8.785
44
c AMY091 Amyotrophic Lateral Sclerosis 1 88 8.783
45
LPP008 Lipoprotein Quantitative Trait Locus 65 8.783
46
P PRK057 Parkinson Disease, Late-Onset 80 8.718
47
AGN016 Aging 54 8.667
48
c TYP009 Type 2 Diabetes Mellitus 92 8.626
49
CNG034 Congestive Heart Failure 69 8.608
50
HYP056 Hypoglycemia 65 8.564
51
P MTC069 Mitochondrial Disorders 57 8.559
52
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 50 8.522
53
P PRK039 Parkinsonism 55 8.359
54
c MTC059 Mitochondrial Dna Depletion Syndrome 5 48 8.312
55
P CRN300 Coronary Heart Disease 1 73 8.290
56
P NRP001 Neuropathy 60 8.231
57
LGH007 Leigh Syndrome 70 8.189
58
ART140 Arteries, Anomalies of 53 8.170
59
P CNR004 Cone-Rod Dystrophy 2 74 8.129
60
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 7.995
61
ATH013 Atherosclerosis Susceptibility 63 7.986
62
P NPH012 Nephrotic Syndrome 60 7.787
63
P HNT016 Huntington Disease 73 7.677
64
c HYP595 Hypertension, Essential 85 7.667
65
P KDN018 Kidney Disease 72 7.596
66
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 7.525
67
P LCT001 Lactic Acidosis 51 7.511
68
ISC004 Ischemia 61 7.462
69
P HRT032 Heart Disease 81 7.420
70
P MSC005 Muscular Dystrophy 67 7.375
71
48X005 48,xyyy 39 7.209
72
MTC005 Mitochondrial Metabolism Disease 45 7.193
73
MSC157 Muscular Dystrophy, Duchenne Type 79 7.097
74
PRT251 Proteinuria, Chronic Benign 57 7.060
75
P INF032 Infertility 57 7.022
76
P MTC133 Mitochondrial Myopathy 50 6.983
77
CYS001 Cystic Fibrosis 78 6.945
78
P NRB001 Neuroblastoma 66 6.933
79
P HYP750 Hypertriglyceridemia, Familial 62 6.853
80
P CRD246 Cardiovascular System Disease 56 6.781
81
P ALZ034 Alzheimer Disease 87 6.769
82
P DBT009 Diabetes Mellitus 67 6.723
83
STR067 Stroke, Ischemic 80 6.714
84
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 80 6.628
85
FML035 Familial Hyperlipidemia 55 6.518
86
P CLR023 Colorectal Cancer 100 6.489
87
P MTH008 Methylmalonic Acidemia 52 6.447
88
P CHR071 Charcot-Marie-Tooth Disease 64 6.434
89
KRT002 Keratomalacia 55 6.387
90
P LYN001 Lynch Syndrome 76 6.380
91
P DYS154 Dystonia 64 6.358
92
P LTR001 Lateral Sclerosis 58 6.299
93
c TBR025 Tuberous Sclerosis 1 84 6.223
94
c BRN108 Branchiootic Syndrome 1 62 6.211
95
MTC004 Mitochondrial Encephalomyopathy 42 6.201
96
HMZ003 Homozygous Familial Hypercholesterolemia 60 6.193
98
c CHR684 Chronic Kidney Disease 69 6.160
99
P ANR048 Aniridia 1 64 6.125
100
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 59 6.075
101
P ATX030 Ataxia-Telangiectasia 80 6.068
102
FBR047 Fibromyalgia 58 6.048
103
P HYP265 Hypotonia 42 5.973
104
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 58 5.967
105
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 5.961
106
c INH020 Inherited Metabolic Disorder 48 5.941
107
c FNC027 Fanconi Anemia, Complementation Group a 81 5.910
108
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 5.881
109
P PRS040 Prostate Cancer 95 5.868
110
RNL114 Renal Cell Carcinoma, Nonpapillary 80 5.833
111
P MLN007 Male Infertility 56 5.820
112
P LVR013 Liver Disease 69 5.789
113
ANT039 Antisynthetase Syndrome 55 5.739
114
DWN001 Down Syndrome 70 5.684
115
P HDC001 Headache 57 5.679
116
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 5.671
117
c BLD140 Blood Group, I System 46 5.647
118
P PRP019 Peripheral Nervous System Disease 58 5.539
119
P ZLL001 Zellweger Syndrome 65 5.529
120
INT323 Intraocular Pressure Quantitative Trait Locus 64 5.508
121
c PRC016 Pre-Eclampsia 65 5.500
122
P HPT023 Hepatocellular Carcinoma 96 5.487
123
CRB039 Cerebrovascular Disease 66 5.462
124
PHN003 Phenylketonuria 76 5.454
125
CRH001 Crohn's Disease 80 5.427
126
P CRD119 Cardiac Arrest 67 5.384
127
MLT157 Multiple System Atrophy 1 69 5.356
128
HYP066 Hyperglycemia 61 5.321
129
P EPL164 Epilepsy 68 5.290
130
c MCR120 Microvascular Complications of Diabetes 7 47 5.282
131
ISL099 Isolated Methylmalonic Acidemia 36 5.269
132
OCL069 Ocular Motor Apraxia 57 5.240
133
KRN002 Kearns-Sayre Syndrome 63 5.239
134
P PLY011 Polycystic Ovary Syndrome 57 5.213
135
P MYC007 Myocardial Infarction 70 5.184
136
P MLT020 Multiple Sclerosis 79 5.132
137
P LNG032 Lung Cancer 98 5.128
138
P VSC007 Vascular Disease 63 5.125
139
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 62 5.122
140
P PRD008 Periodontitis 64 5.116
141
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 5.081
142
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 5.081
143
RPD005 Rapidly Involuting Congenital Hemangioma 46 5.078
144
ACR006 Aceruloplasminemia 63 5.040
145
END086 End Stage Renal Disease 52 5.036
146
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 5.031
147
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 5.031
148
P ATS364 Autism 69 4.936
149
MTC023 Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 44 4.934
150
P HPT021 Hepatitis 69 4.928
151
c LKM061 Leukemia, Acute Myeloid 83 4.928
152
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 4.908
153
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 4.908
154
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 4.908
155
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 4.908
156
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 4.908
157
RHB024 Rhabdomyosarcoma 2 67 4.893
158
CRD223 Cardiac Arrhythmia 63 4.745
159
RNL065 Renal Cell Carcinoma, Papillary, 1 79 4.739
160
P MYC084 Mycobacterium Tuberculosis 1 68 4.688
161
c MCR130 Microvascular Complications of Diabetes 6 41 4.687
162
c MCR113 Microvascular Complications of Diabetes 3 52 4.687
163
c MCR133 Microvascular Complications of Diabetes 4 41 4.687
164
P LNG028 Long Qt Syndrome 64 4.686
165
DSS008 Disease of Mental Health 74 4.664
166
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 56 4.655
167
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 4.593
168
P PNC035 Pancreatic Cancer 86 4.589
169
c HPT003 Hepatitis a 63 4.574
170
c NRF024 Neurofibromatosis, Type I 72 4.572
171
WST001 West Syndrome 59 4.561
172
MYL009 Myelodysplastic Syndrome 67 4.553
173
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 63 4.551
174
SPS057 Spasticity 42 4.540
175
P ERL057 Early Infantile Epileptic Encephalopathy 60 4.532
176
DFC004 Deficiency Anemia 74 4.520
177
PPL049 Papillon-Lefevre Syndrome 66 4.510
178
P OST002 Osteoporosis 76 4.487
179
P HYP086 Hypothyroidism 69 4.460
180
ADR007 Adrenoleukodystrophy 73 4.453
181
SPN186 Spinal Cord Injury 61 4.447
182
P OPN001 Open-Angle Glaucoma 55 4.435
183
ALC007 Alcohol Dependence 66 4.399
184
c ATS007 Autism Spectrum Disorder 72 4.394
185
GLL048 Glial Tumor 52 4.393
186
c TYP008 Type 1 Diabetes Mellitus 70 4.388
187
P DMN002 Dementia 66 4.369
188
c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 67 4.356
189
DPR016 Depression 65 4.348
190
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 63 4.343
191
P SPR120 Supranuclear Palsy, Progressive, 1 69 4.337
192
c MJR022 Major Affective Disorder 8 38 4.334
193
c MJR024 Major Affective Disorder 9 41 4.334
194
P BPL003 Bipolar Disorder 56 4.334
195
P ALP004 Alport Syndrome 69 4.329
196
P ADN016 Adenocarcinoma 63 4.325
197
HYP266 Hypoxia 57 4.304
198
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 4.302
199
GLB002 Glioblastoma 67 4.262
200
P EYD002 Eye Disease 57 4.259
201
c ATS307 Autosomal Recessive Cerebellar Ataxia 39 4.211
202
c ACT071 Acute Kidney Failure 60 4.202
203
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65 4.199
204
NRR001 Neuroretinitis 42 4.182
205
RTN023 Retinitis 46 4.182
206
c PLM164 Pulmonary Hypertension, Primary, 1 76 4.178
207
P FCL005 Focal Segmental Glomerulosclerosis 57 4.169
208
INS024 Insulin-Like Growth Factor I 78 4.155
209
c GLL024 Gallbladder Disease 1 52 4.155
210
PLM129 Pulmonary Disease, Chronic Obstructive 74 4.150
211
MNT002 Mental Depression 57 4.136
212
P ART022 Arthritis 71 4.115
213
ERL001 Early Myoclonic Encephalopathy 62 4.108
214
P SNS001 Sensorineural Hearing Loss 59 4.086
215
c HPT001 Hepatitis C 62 4.078
216
NNL006 Non-Alcoholic Steatohepatitis 54 4.075
217
P TRN020 Turner Syndrome 67 4.072
218
c MCR115 Microvascular Complications of Diabetes 5 65 4.069
219
P MLN008 Melanoma 76 4.068
220
PRP001 Propionic Acidemia 65 4.063
221
ATX019 Ataxia with Vitamin E Deficiency 44 4.061
222
MRF001 Marfan Syndrome 76 4.048
223
CRD132 Cardiac Conduction Defect 60 4.029
224
PLM134 Pulmonary Fibrosis, Idiopathic 76 4.026
225
47X002 47,xyy 48 4.024
226
OHT001 Ohtahara Syndrome 38 4.023
227
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 4.012
228
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 4.012
229
MLR004 Malaria 80 4.012
230
P SCH015 Schizophrenia 74 3.998
231
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 70 3.993
232
P OVR042 Ovarian Cancer 88 3.974
233
P OPT006 Optic Nerve Disease 58 3.955
234
c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 42 3.949
235
LBR036 Leber Plus Disease 66 3.930
236
HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 60 3.924
237
P LKM002 Leukemia 67 3.912
238
TXC005 Toxic Shock Syndrome 62 3.882
239
P JBR020 Joubert Syndrome 1 74 3.874
240
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 65 3.852
241
c SPR086 Spermatogenic Failure 3 46 3.832
242
P TBR001 Tuberous Sclerosis 69 3.814
243
P GST053 Gastric Cancer 83 3.812
244
CYT002 Cytokine Deficiency 43 3.793
245
P TRM003 Tremor 48 3.781
246
P ACN011 Acne 57 3.777
247
LPT014 Leptin Deficiency or Dysfunction 78 3.772
248
BRN071 Brain Injury 50 3.760
249
GLM045 Glioma 63 3.756
250
VTM002 Vitamin B12 Deficiency 48 3.754
251
P LFT003 Left Ventricular Noncompaction 57 3.737
252
ADL002 Adult Syndrome 70 3.715
253
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 69 3.712
254
P FRD001 Friedreich Ataxia 61 3.694
255
P MPL001 Maple Syrup Urine Disease 70 3.689
256
VNT035 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy 64 3.672
257
P DRR001 Diarrhea 55 3.640
258
P PHC003 Pheochromocytoma 69 3.637
259
NRM005 Neuromuscular Disease 63 3.636
260
HPT004 Hepatic Coma 43 3.622
261
P PLM037 Pulmonary Hypertension 72 3.622
262
c ACT075 Acute Myocardial Infarction 56 3.621
263
P GLC113 Galactosemia I 66 3.617
264
ISV001 Isovaleric Acidemia 54 3.596
265
P HYP838 Hyperlipidemia, Familial Combined, 3 61 3.587
266
MSC007 Muscle Hypertrophy 64 3.577
267
P HYP076 Hyperthyroidism 53 3.571
268
CNN005 Connective Tissue Disease 67 3.557
269
c HYP272 Hypercholesterolemia, Familial, 3 45 3.553
270
P MCR129 Microvascular Complications of Diabetes 1 68 3.538
271
P CTR002 Cataract 60 3.529
272
P MTC003 Metachromatic Leukodystrophy 71 3.525
273
OST012 Osteoarthritis 77 3.484
274
ATM095 Autoimmune Disease 61 3.482
275
c SML038 Small Cell Cancer of the Lung 69 3.476
276
CLT003 Colitis 63 3.471
277
BRT054 Brittle Bone Disorder 74 3.468
278
P EXN002 Exanthem 58 3.461
279
MYL069 Myeloma, Multiple 77 3.460
280
DRM006 Dermatitis 62 3.459
281
P RTT002 Rett Syndrome 79 3.449
282
P HMC002 Homocystinuria 53 3.443
283
DBT010 Diabetic Neuropathy 54 3.436
284
P ALC033 Alcohol Use Disorder 61 3.415
285
P NJM001 Nijmegen Breakage Syndrome 76 3.409
286
PRP027 Peripheral Vascular Disease 71 3.382
287
LNG099 Lung Disease 62 3.376
288
c GLY008 Glycogen Storage Disease Ii 72 3.372
289
TRM010 Traumatic Brain Injury 51 3.368
290
SDD001 Sudden Infant Death Syndrome 60 3.367
291
HMC014 Homocysteinemia 52 3.363
292
CRB009 Cerebritis 43 3.361
293
P MVM001 Movement Disease 61 3.352
294
c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 52 3.341
295
P PRM002 Primary Hyperoxaluria 65 3.331
296
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 3.327
297
CRB037 Cerebral Palsy 67 3.321
298
BTN004 Biotin Deficiency 45 3.320
299
c MTR018 Maturity-Onset Diabetes of the Young, Type 1 63 3.317
300
P AST005 Asthma 76 3.304
301
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 66 3.288
302
MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 56 3.272
303
c ACT027 Acute Pancreatitis 60 3.271
304
RCK004 Rickets 68 3.268
305
ANG054 Angina Pectoris 66 3.264
306
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 26 3.253
307
DYS073 Dysphagia 53 3.251
308
P DRM053 Dermatitis, Atopic 65 3.247
309
TRG019 Trigonocephaly with Short Stature and Developmental Delay 38 3.239
310
P MTR014 Motor Neuron Disease 65 3.234
311
P RTN024 Retinoblastoma 73 3.230
312
OCL015 Oculomotor Apraxia 39 3.221
313
P RHM011 Rheumatoid Arthritis 82 3.213
314
c MCP001 Mucopolysaccharidosis Iii 69 3.211
315
P PNC044 Pancreatitis 61 3.209
316
c HPT073 Hepatitis C Virus 71 3.207
317
P BCL017 B-Cell Lymphoma 59 3.202
318
P MYL006 Myeloid Leukemia 61 3.196
319
HMN014 Human Immunodeficiency Virus Infectious Disease 54 3.188
320
HPT019 Hepatic Encephalopathy 59 3.187
321
ADR022 Adrenomyeloneuropathy 39 3.185
322
c SYS001 Systemic Lupus Erythematosus 87 3.160
323
P LPS004 Lupus Erythematosus 61 3.146
324
c MCR112 Microvascular Complications of Diabetes 2 42 3.137
325
CRB011 Cerebrotendinous Xanthomatosis 65 3.129
326
RLP002 Relapsing-Remitting Multiple Sclerosis 56 3.114
327
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 67 3.110
328
c 3MT015 3-Methylglutaconic Aciduria, Type I 51 3.109
329
END040 Endogenous Depression 55 3.108
330
CRV035 Cervical Cancer 73 3.089
331
P PSR002 Psoriasis 63 3.086
332
PST011 Pustulosis of Palm and Sole 52 3.086
333
IRN002 Iron Metabolism Disease 57 3.077
334
P NRN021 Neuronal Ceroid Lipofuscinosis 65 3.074
335
P CLS054 Classic Ehlers-Danlos Syndrome 57 3.072
336
P RSP003 Respiratory Failure 74 3.068
337
P CHR345 Chronic Pain 50 3.052
338
c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 49 3.048
339
NTR005 Nutritional Deficiency Disease 61 3.039
340
P SLP006 Sleep Apnea 69 3.034
341
RBF001 Riboflavin Deficiency 49 3.020
342
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 3.017
343
P NRD007 Neurodegeneration with Brain Iron Accumulation 52 3.010
344
P ORT004 Orthostatic Intolerance 63 3.007
345
c GLC092 Glaucoma, Primary Open Angle 62 3.007
346
THR024 Thrombosis 56 3.002
347
P MCR010 Microcephaly 60 2.997
348
BNR002 Bone Resorption Disease 47 2.995
349
GST040 Gastric Adenocarcinoma 67 2.988
350
PRS021 Prostatic Adenoma 43 2.981
351
PRS045 Prostatic Hypertrophy 53 2.981
352
P MTR004 Maturity-Onset Diabetes of the Young 68 2.980
353
MVL001 Mevalonic Aciduria 66 2.975
354
c MLT160 Multiple Endocrine Neoplasia, Type Iia 67 2.974
355
NRL016 Neural Tube Defects 81 2.970
356
P ATX024 Ataxia-Oculomotor Apraxia 3 45 2.967
357
P HML002 Hemolytic Anemia 62 2.966
358
c PRD040 Periodontitis, Chronic 52 2.963
359
IMM167 Immune Deficiency Disease 78 2.961
360
CYS010 Cystinosis 62 2.958
361
c PNS012 Paine Syndrome 60 2.950
362
HYP080 Hypogonadism 50 2.942
363
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 55 2.935
364
P ATT013 Attention Deficit-Hyperactivity Disorder 64 2.926
365
c CHR095 Chronic Progressive External Ophthalmoplegia 49 2.921
366
c MCP045 Mucopolysaccharidosis, Type Iiic 59 2.920
367
HMP009 Haemophilus Influenzae 41 2.905
368
HYP781 Hypoascorbemia 52 2.903
369
AMY027 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 57 2.902
370
P PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 54 2.901
371
P HYP802 Hypocalcemia, Autosomal Dominant 1 68 2.899
372
P ATR011 Atrial Fibrillation 66 2.896
373
c HYP794 Hyperoxaluria, Primary, Type I 63 2.893
374
c HYP724 Hyperlipoproteinemia, Type Iii 67 2.891
375
c HPT016 Hepatitis B 62 2.891
376
P NRV007 Nervous System Disease 67 2.883
377
WLS001 Wilson Disease 70 2.879
378
MTC027 Mitochondrial Trifunctional Protein Deficiency 57 2.875
379
P INF037 Inflammatory Bowel Disease 53 2.874
380
P ALP008 Alopecia 54 2.870
381
P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 58 2.868
382
GLC003 Glucose Intolerance 54 2.860
383
TTH006 Tooth Disease 51 2.860
384
ABT001 Abetalipoproteinemia 68 2.850
385
PRS129 Prostatic Hyperplasia, Benign 49 2.849
386
QLT008 Qualitative or Quantitative Defects of Dysferlin 29 2.847
387
DYS030 Dysferlinopathy 38 2.847
388
P LMB006 Limb-Girdle Muscular Dystrophy 52 2.846
389
c THR092 Thrombophilia Due to Thrombin Defect 74 2.845
390
c EXD008 Exudative Vitreoretinopathy 1 71 2.827
391
P MLG056 Malignant Hyperthermia 66 2.821
392
MGL001 Megaloblastic Anemia 58 2.817
393
SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 33 2.815
394
SKN016 Skin Disease 63 2.814
395
P LYM118 Lymphoma 67 2.809
396
GNG013 Gingivitis 59 2.798
397
LVR012 Liver Cirrhosis 63 2.795
398
P PTS002 Ptosis 52 2.793
399
c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 53 2.779
400
P STS003 Sitosterolemia 53 2.776
401
P ECL001 Eclampsia 52 2.764
402
P HYP818 Hypobetalipoproteinemia, Familial, 1 60 2.763
403
RFS006 Refsum Disease, Classic 63 2.759
404
P HYP050 Hyperinsulinemic Hypoglycemia 57 2.759
405
c EPS039 Episodic Pain Syndrome, Familial, 1 42 2.756
406
c BDY021 Body Mass Index Quantitative Trait Locus 20 49 2.753
407
LBR038 Leber Hereditary Optic Neuropathy, Modifier of 62 2.751
408
PRX001 Peroxisomal Disease 46 2.748
409
P RCT021 Rectum Cancer 54 2.744
410
BRT005 Barth Syndrome 56 2.733
411
ULC004 Ulcerative Colitis 74 2.726
412
P THR014 Thrombocytopenia 66 2.721
413
P PNM007 Pneumonia 67 2.717
414
c NMN015 Niemann-Pick Disease, Type C1 68 2.707
415
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 2.707
416
P LNG064 Lung Cancer Susceptibility 3 70 2.695
417
DRY001 Dry Eye Syndrome 50 2.682
418
SMT004 Smith-Lemli-Opitz Syndrome 70 2.680
419
c PNC108 Pancreatitis, Hereditary 69 2.680
420
GNT179 Genetic Steroid-Resistant Nephrotic Syndrome 39 2.679
421
c BTT014 Beta-Thalassemia 72 2.679
422
LGH017 Leigh Syndrome with Nephrotic Syndrome 28 2.670
423
P SKN015 Skin Carcinoma 71 2.668
424
P SCK005 Sickle Cell Disease 56 2.660
425
PHR003 Pharyngitis 58 2.657
426
HMN044 Human Immunodeficiency Virus Type 1 78 2.657
427
c ATS013 Autosomal Recessive Congenital Ichthyosis 66 2.652
428
PNC129 Pancreatic Adenocarcinoma 65 2.640
429
P INT099 Intrahepatic Cholestasis of Pregnancy 62 2.631
430
MNN047 Mannosidosis, Alpha B, Lysosomal 67 2.619
431
KRT009 Keratosis 53 2.613
432
P SJG008 Sjogren Syndrome 61 2.608
433
LPD012 Lipoid Congenital Adrenal Hyperplasia 70 2.608
434
c PRX059 Peroxisome Biogenesis Disorder 1a 56 2.596
435
INT066 Interstitial Lung Disease 60 2.596
436
CVD001 Covid-19 57 2.593
437
HGH043 High Grade Glioma 45 2.591
438
c VRL010 Viral Hepatitis 53 2.589
440
ADN018 Adenoma 59 2.578
441
DSS032 Disease by Infectious Agent 55 2.577
442
P RTN016 Retinal Degeneration 52 2.576
443
SPP011 Suppression of Tumorigenicity 12 61 2.573
444
P BCK002 Beckwith-Wiedemann Syndrome 62 2.568
445
c PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 63 2.564
446
LYM019 Lymphosarcoma 46 2.563
447
ADN090 Adenosylcobalamin Deficiency 32 2.561
448
XLN231 X-Linked Alport Syndrome 41 2.547
449
P KDN017 Kidney Cancer 61 2.544
450
P GCH001 Gaucher's Disease 70 2.543
451
NRT001 Neurotic Disorder 56 2.529
452
OST159 Osteogenic Sarcoma 66 2.525
453
INT002 Intermittent Claudication 61 2.516
454
HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 48 2.514
455
P MDL005 Medulloblastoma 75 2.514
456
P LKM062 Leukemia, Acute Lymphoblastic 69 2.512
457
c MCP050 Mucopolysaccharidosis, Type Ii 74 2.501
458
PLY105 Polycystic Ovary Syndrome 1 39 2.500
459
P ART021 Arteriosclerosis 54 2.499
460
DSR002 Disorders of Intracellular Cobalamin Metabolism 29 2.496
461
ART016 Aortic Aneurysm 68 2.491
462
KHL003 Kohlschutter-Tonz Syndrome 59 2.491
463
SYS003 Systolic Heart Failure 49 2.489
464
c WLM013 Wilms Tumor 1 66 2.487
465
ESP021 Esophageal Cancer 83 2.483
466
P HLP001 Holoprosencephaly 69 2.471
467
CNV004 Canavan Disease 62 2.459
468
BRN028 Brain Cancer 74 2.447
469
CNS004 Constipation 56 2.445
470
c NPH055 Nephrotic Syndrome, Type 1 52 2.443
471
P CNJ013 Conjunctivitis 66 2.442
472
P KRB001 Krabbe Disease 69 2.432
473
c ATS347 Autosomal Dominant Polycystic Kidney Disease 66 2.432
474
P LKD001 Leukodystrophy 59 2.430
475
STM007 Stomatitis 54 2.430
476
PRS047 Prostatitis 58 2.429
477
P RHN004 Rhinitis 57 2.428
478
P RRH023 Rare Hereditary Hemochromatosis 54 2.422
479
c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 66 2.419
480
P SCL018 Scoliosis 57 2.417
481
c PRG094 Paragangliomas 5 28 2.411
482
FRS002 Frasier Syndrome 54 2.408
483
P GRF003 Graft-Versus-Host Disease 71 2.405
484
IMP005 Impotence 52 2.405
485
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 45 2.400
486
P INF038 Influenza 68 2.398
487
P CRP001 Carpal Tunnel Syndrome 66 2.397
488
GLS018 Glass Syndrome 61 2.393
489
NPH009 Nephrolithiasis 54 2.391
490
c CWD006 Cowden Syndrome 1 78 2.389
491
XRD010 Xeroderma Pigmentosum, Variant Type 73 2.388
492
CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 64 2.378
493
ACQ007 Acquired Immunodeficiency Syndrome 59 2.374
494
P BLD134 Bladder Cancer 79 2.370
495
SCK003 Sickle Cell Anemia 74 2.354
496
P PLY019 Polyneuropathy 52 2.353
497
P BND020 Bone Disease 59 2.343
498
FBR012 Fabry Disease 70 2.342
499
P CRD224 Cardiofaciocutaneous Syndrome 1 71 2.339
500
P END044 Endometriosis 62 2.336
501
KRT006 Keratoconjunctivitis 53 2.334
502
VTM028 Vitamin E, Familial Isolated Deficiency of 53 2.331
503
ALL003 Allergic Rhinitis 67 2.327
504
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 64 2.326
505
P LKM071 Leukemia, Chronic Lymphocytic 75 2.313
506
BCK006 Back Pain 47 2.304
507
P ADL010 Adult Respiratory Distress Syndrome 71 2.303
508
KRT019 Keratitis, Hereditary 66 2.296
509
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 38 2.290
510
c DNT047 Dentinogenesis Imperfecta Type 2 35 2.286
511
P FML068 Familial Hypocalciuric Hypercalcemia 55 2.272
512
CRY008 Cryopyrin-Associated Periodic Syndrome 48 2.272
513
PNC041 Pancreatic Ductal Adenocarcinoma 51 2.272
514
c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 30 2.264
515
c INF161 Inflammatory Bowel Disease 28 36 2.264
516
P APL001 Aplastic Anemia 73 2.262
517
PTH003 Pathologic Nystagmus 52 2.261
518
NNT017 Neonatal Adrenoleukodystrophy 54 2.241
519
c OPT053 Optic Atrophy 1 62 2.239
520
c HYP837 Hypercholesterolemia, Familial, 2 46 2.217
521
P CRN025 Corneal Dystrophy 49 2.215
522
MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 47 2.214
523
c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 61 2.213
524
LWC002 Lowe Oculocerebrorenal Syndrome 68 2.210
525
KRT001 Keratoconjunctivitis Sicca 50 2.209
526
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 67 2.196
527
c PRG020 Paragangliomas 3 39 2.189
528
HYP005 Hypokalemia 55 2.188
529
BCT022 Bacterial Infectious Disease 56 2.182
530
STT001 Status Epilepticus 59 2.178
531
c GLY003 Glycogen Storage Disease Iii 60 2.173
532
SNS003 Sensory Peripheral Neuropathy 52 2.173
533
HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 50 2.172
534
CRN030 Coronary Stenosis 50 2.171
535
MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 38 2.168
536
P RHZ001 Rhizomelic Chondrodysplasia Punctata 57 2.167
537
PRM013 Premature Menopause 58 2.166
538
CHR073 Choreatic Disease 54 2.160
539
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 57 2.152
540
c ART138 Aortic Aneurysm, Familial Abdominal, 1 61 2.148
541
c PCH010 Pachyonychia Congenita 3 43 2.134
542
P MSC003 Muscular Atrophy 52 2.131
543
INS001 Insulinoma 59 2.131
544
NPH091 Nephrolithiasis, Calcium Oxalate 61 2.125
545
MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 53 2.123
546
LYM143 Lymphoma, Non-Hodgkin, Familial 75 2.123
547
HMS001 Hemosiderosis 48 2.122
548
c DRR009 Diarrhea 6 45 2.120
549
P CRB088 Cerebral Atrophy 33 2.113
550
ART002 Arts Syndrome 66 2.111
551
ACT011 Acute Contagious Conjunctivitis 42 2.108
552
GLY010 Glycine Encephalopathy 57 2.102
553
HPT022 Hepatoblastoma 54 2.101
554
LKC009 Leukocyte Adhesion Deficiency, Type I 70 2.089
555
BTN003 Biotinidase Deficiency 62 2.086
556
c PRX045 Peroxisome Biogenesis Disorder 1b 62 2.086
557
VNH007 Von Hippel-Lindau Syndrome 73 2.085
558
P THL005 Thalassemia 56 2.077
559
SCH003 Schizophreniform Disorder 55 2.073
560
CLR030 Clear Cell Renal Cell Carcinoma 54 2.067
561
P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 39 2.064
562
ANR040 Aneurysm 61 2.061
563
c LKM063 Leukemia, Chronic Myeloid 71 2.052
564
c ART101 Aortic Valve Disease 2 66 2.042
565
P MTC010 Mitochondrial Dna Depletion Syndrome 47 2.041
566
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 39 2.037
567
P GLM007 Glomerulonephritis 60 2.036
568
c MTC056 Mitochondrial Dna Depletion Syndrome 4a 62 2.033
569
P IMR002 Imerslund-Grasbeck Syndrome 1 42 2.033
570
MLD018 Mild Cognitive Impairment 48 2.030
571
CRV002 Cervix Uteri Carcinoma in Situ 47 2.030
572
CRV045 Cervical Intraepithelial Neoplasia 39 2.030
573
P HRS035 Hirschsprung Disease 1 66 2.028
574
MTH077 Methylmalonic Aciduria, Cbla Type 43 2.027
575
P CND005 Cone Dystrophy 47 2.025
576
P CHR012 Chronic Granulomatous Disease 69 2.023
577
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 46 2.022
578
c ATM006 Autoimmune Lymphoproliferative Syndrome 75 2.018
579
P PRD006 Prader-Willi Syndrome 61 2.014
580
c NRD016 Neurodegeneration with Brain Iron Accumulation 6 50 2.012
581
c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 61 2.004
582
EPT021 Epithelial Recurrent Erosion Dystrophy 46 2.003
583
c MJR006 Major Affective Disorder 5 32 2.000
584
c MJR023 Major Affective Disorder 7 33 2.000
585
c MJR004 Major Affective Disorder 4 28 2.000
586
c MJR003 Major Affective Disorder 6 32 2.000
587
c MJR008 Major Affective Disorder 2 34 2.000
588
P MJR007 Major Affective Disorder 1 42 2.000
589
MTR007 Motor Peripheral Neuropathy 40 2.000
590
DFF021 Diffuse Mesangial Sclerosis 39 1.996
591
SCH012 Schizoaffective Disorder 50 1.994
592
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58 1.993
593
TRN015 Transient Cerebral Ischemia 63 1.992
594
c THY056 Thyroid Dyshormonogenesis 3 31 1.987
596
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 1.983
597
P ICH004 Ichthyosis 56 1.979
598
CYN002 Cyanosis, Transient Neonatal 43 1.979
599
MCP033 Mucopolysaccharidoses 44 1.977
600
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 1.976
601
LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 66 1.975
602
P SLP005 Sleep Disorder 61 1.973
603
c GLC111 Galactosemia Ii 50 1.972
604
MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 35 1.964
605
ALL029 Allergic Disease 59 1.962
606
DBF001 D-Bifunctional Protein Deficiency 55 1.962
607
P MYC033 Myoclonus 47 1.953
608
P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 57 1.952
609
P PLM036 Pulmonary Fibrosis 66 1.950
610
c PRM092 Primary Lateral Sclerosis, Adult, 1 38 1.946
611
PNC001 Pancytopenia 53 1.944
612
LND001 Landau-Kleffner Syndrome 51 1.942
613
OCL006 Ocular Hypertension 53 1.941
614
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 59 1.940
615
VSC002 Vascular Dementia 60 1.935
616
VSL002 Visual Epilepsy 39 1.935
617
END072 Endotheliitis 36 1.932
618
c PRM038 Primary Agammaglobulinemia 47 1.929
619
NRT004 Neuritis 53 1.926
620
MTH040 Methylmalonyl-Coa Epimerase Deficiency 26 1.920
621
ZLL011 Zellweger Spectrum Disorder 45 1.911
622
INV001 Invasive Aspergillosis 49 1.908
623
P ASP006 Aspergillosis 72 1.908
624
P GLM040 Glioma Susceptibility 1 71 1.905
625
P MJR001 Major Depressive Disorder 68 1.902
626
SQM006 Squamous Cell Carcinoma 60 1.902
627
CLS049 Classic Phenylketonuria 41 1.899
628
c HYD046 Hydatidiform Mole, Recurrent, 1 59 1.899
629
RNL078 Renal Dysplasia 46 1.892
630
END057 Endometrial Cancer 72 1.887
631
BRS051 Breast Disease 58 1.880
632
c NPH049 Nephrotic Syndrome, Type 2 51 1.872
633
CHN055 Chanarin-Dorfman Syndrome 60 1.870
634
AMD002 Amed Syndrome, Digenic 37 1.869
635
P FML018 Familial Mediterranean Fever 73 1.865
636
PRR007 Perry Syndrome 52 1.864
637
CNG116 Congenital Nephrotic Syndrome Finnish Type 30 1.864
638
P RTN018 Retinal Disease 53 1.863
639
MSC152 Muscular Dystrophy, Becker Type 69 1.861
640
c DRM054 Dermatitis, Atopic, 2 46 1.857
641
EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 53 1.857
642
MNC011 Minicore Myopathy with External Ophthalmoplegia 37 1.855
643
APH001 Aphthous Stomatitis 58 1.850
644
PLC008 Placenta Disease 49 1.848
645
ORT008 Orotic Aciduria 57 1.846
646
P KLZ004 Kala-Azar 1 41 1.845
647
LSH001 Leishmaniasis 64 1.845
648
RSS026 Roussy-Levy Hereditary Areflexic Dystasia 46 1.844
649
P HML033 Hemolytic Uremic Syndrome, Atypical 1 69 1.843
650
ALL006 Allergic Asthma 56 1.838
652
PRM329 Premature Aging 36 1.837
653
P MYT002 Myotonic Dystrophy 51 1.835
654
MTH021 Methylmalonic Acidemia with Homocystinuria 44 1.833
655
MTC205 Mitochondrial Complex Iv Deficiency, Nuclear Type 1 57 1.832
656
P SPN429 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 57 1.826
657
P GRV001 Graves' Disease 55 1.824
658
P PLY006 Polydactyly 59 1.822
659
PRT036 Peritonitis 65 1.819
660
c HMC039 Hemochromatosis, Type 1 73 1.814
661
FRC001 Fructose-1,6-Bisphosphatase Deficiency 50 1.813
662
SPL018 Splenomegaly 49 1.811
663
c MYS051 Myasthenic Syndrome, Congenital, 5 53 1.805
664
3MT011 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 38 1.801
665
PDT043 Pediatric Acute-Onset Neuropsychiatric Syndrome 26 1.801
666
CLS047 Classic Progressive Supranuclear Palsy Syndrome 33 1.801
667
GLC009 Glucosephosphate Dehydrogenase Deficiency 53 1.798
668
HLC001 Holocarboxylase Synthetase Deficiency 48 1.792
669
P MGR001 Migraine Without Aura 49 1.791
670
HSD004 Hsd10 Mitochondrial Disease 45 1.790
671
BCK003 Background Diabetic Retinopathy 47 1.788
672
P MRN003 Marinesco-Sjogren Syndrome 51 1.786
673
TTR005 Tetrahydrobiopterin Deficiency 48 1.783
674
APH002 Aphasia 56 1.781
675
NRV004 Nerve Compression Syndrome 44 1.781
676
ATH001 Athabaskan Brainstem Dysgenesis Syndrome 52 1.776
677
c MYT027 Myotonia Congenita, Autosomal Dominant 34 1.776
678
GST045 Gastroenteritis 58 1.773
679
P NMN002 Niemann-Pick Disease 60 1.770
680
c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 51 1.769
681
P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 39 1.769
682
c ESS001 Essential Tremor 57 1.768
683
GYR004 Gyrate Atrophy of Choroid and Retina 58 1.761
684
APN008 Apnea, Obstructive Sleep 67 1.760
685
LYM133 Lymphoma, Hodgkin, Classic 74 1.759
686
HNT002 Hantavirus Pulmonary Syndrome 55 1.758
687
3MT008 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency 29 1.754
688
ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 50 1.749
689
c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 53 1.749
690
c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 65 1.741
691
SRC014 Sarcoma 65 1.739
692
PSY004 Psychotic Disorder 66 1.738
693
LPT006 Leptin Receptor Deficiency 50 1.736
694
HYP236 Hyperbilirubinemia, Rotor Type 44 1.735
695
GST010 Gestational Trophoblastic Neoplasm 52 1.733
696
GLT018 Glut1 Deficiency Syndrome 1 42 1.732
697
c DVL034 Developmental and Epileptic Encephalopathy 3 44 1.732
698
P NSP012 Nasopharyngeal Carcinoma 61 1.730
699
P BRW001 Brown-Vialetto-Van Laere Syndrome 50 1.729
700
CLR108 Colorectal Adenoma 64 1.728
701
BRR014 Barrett Esophagus 66 1.718
702
c OPT051 Opitz Gbbb Syndrome, Type I 46 1.713
703
CCN001 Cocaine Dependence 48 1.712
704
P THY032 Thyroiditis 57 1.709
705
CLN015 Colon Adenocarcinoma 65 1.706
706
PRP083 Porphyria, Acute Intermittent 65 1.697
707
c PRG042 Progressive Familial Heart Block, Type Ia 66 1.693
708
CRN239 Carnitine Deficiency, Systemic Primary 61 1.693
709
DBT002 Diabetic Autonomic Neuropathy 41 1.687
710
INT276 Interatrial Communication 51 1.681
711
P SDR003 Sideroblastic Anemia 51 1.679
712
c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 55 1.679
713
DMN031 Dementia, Lewy Body 65 1.674
714
SNG007 Sengers Syndrome 45 1.671
715
FCL012 Facial Paralysis 49 1.669
716
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 1.669
717
P URN019 Urinary Tract Infection 49 1.669
718
FRN006 Frontotemporal Dementia 68 1.666
719
P AMY004 Amyloidosis 70 1.659
720
ADR005 Adrenal Carcinoma 62 1.658
721
c PRG043 Progressive Familial Heart Block, Type Ib 54 1.655
722
CTR172 Citrullinemia, Classic 65 1.655
723
HMT002 Hematologic Cancer 61 1.652
724
c ATX040 Ataxia-Telangiectasia-Like Disorder 1 49 1.649
725
P RHB003 Rhabdomyosarcoma 66 1.647
726
P PRS038 Personality Disorder 65 1.644
727
ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 62 1.638
728
P PSD087 Pseudoxanthoma Elasticum 67 1.637
729
MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 36 1.637
730
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 43 1.636
731
HMT008 Hematuria, Benign Familial 54 1.635
732
P ALT001 Alternating Hemiplegia of Childhood 57 1.629
733
ANX010 Anxiety 70 1.628
734
MCR018 Microcytic Anemia 47 1.628
735
c GLY004 Glycogen Storage Disease V 62 1.623
736
HMG005 Hemoglobinopathy 56 1.622
738
IRR002 Irritable Bowel Syndrome 65 1.614
739
PRM236 Primary Biliary Cholangitis 60 1.612
740
P BNG032 Benign Mesothelioma 53 1.610
741
MNK001 Menkes Disease 64 1.610
742
c ACT134 Acute Liver Failure 59 1.607
743
CMM005 Common Cold 56 1.606
744
BRN024 Bronchitis 67 1.605
745
HYP088 Hyper-Igd Syndrome 51 1.603
746
WLF001 Wolff-Parkinson-White Syndrome 65 1.598
747
P NNT058 Neonatal Diabetes 52 1.596
748
GLS001 Gliosarcoma 64 1.595
749
NTR007 Neutral Lipid Storage Disease with Myopathy 42 1.594
750
HMP005 Hemiplegia 54 1.593
751
P RST002 Restrictive Cardiomyopathy 54 1.593
752
P HYD006 Hydrocephalus 61 1.587
753
GLY065 Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 40 1.587
754
HYP264 Hypertonia 36 1.586
755
P STR020 Strabismus 56 1.585
756
HYP458 Hyper Ige Syndrome 60 1.584
757
HYP348 Hyperglycinuria 38 1.584
758
HYP141 Hyperphenylalaninemia 42 1.584
759
ANL018 Analbuminemia 53 1.573
760
TRG002 Trigeminal Neuralgia 61 1.572
761
VSL013 Visual Impairment and Progressive Phthisis Bulbi 36 1.572
762
GLM044 Glomerular Disease 35 1.566
763
c NRB010 Neuroblastoma 1 59 1.566
764
c CNG006 Congenital Hypothyroidism 63 1.564
765
TNG002 Tangier Disease 64 1.560
766
MYF002 Myofascial Pain Syndrome 46 1.559
767
SVR001 Severe Acute Respiratory Syndrome 67 1.552
768
ENC055 Encephalopathy, Ethylmalonic 51 1.552
769
TLN003 Telangiectasis 51 1.551
770
P ACT008 Actinic Keratosis 54 1.550
771
BTT017 Beta-Thalassemia Major 51 1.549
772
P GLY013 Glycogen Storage Disease 60 1.546
773
P ANP001 Anaplastic Large Cell Lymphoma 61 1.545
774
P ALP009 Alopecia Areata 59 1.543
775
LYM007 Lymphangioleiomyomatosis 68 1.542
776
BLD131 Bladder Urothelial Carcinoma 60 1.542
777
PRS063 Paresthesia 39 1.535
778
MTC008 Mitochondrial Complex Iii Deficiency 35 1.531
779
ATR057 Atrioventricular Block 54 1.529
780
CHR105 Choreoacanthocytosis 55 1.527
781
TRN022 Transcobalamin Ii Deficiency 45 1.524
782
SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 57 1.523
783
GST092 Gastroesophageal Reflux 61 1.523
784
P HYP024 Hypoparathyroidism 55 1.521
785
P MGR003 Migraine with Aura 52 1.519
786
PRP030 Purpura 54 1.514
787
KFR001 Kufor-Rakeb Syndrome 59 1.510
788
SVR097 Severe Cutaneous Adverse Reaction 69 1.506
789
LSC001 Lesch-Nyhan Syndrome 62 1.503
790
P NTR004 Neutropenia 63 1.499
791
P PLY014 Polycystic Kidney Disease 69 1.499
792
c SCN036 Secondary Progressive Multiple Sclerosis 55 1.499
793
c HRM005 Hermansky-Pudlak Syndrome 1 55 1.497
794
ADR016 Adrenal Cortical Carcinoma 62 1.493
795
P PRC031 Preeclampsia/eclampsia 1 43 1.489
796
BTY001 Butyrylcholinesterase Deficiency 49 1.487
797
MYL005 Myelofibrosis 71 1.486
798
NRN001 Neuroendocrine Carcinoma 47 1.485
799
MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 28 1.483
800
STH001 Saethre-Chotzen Syndrome 66 1.479
801
MJD001 Majeed Syndrome 40 1.478
802
CRH005 Crohn's Colitis 53 1.474
803
P AGN002 Agnosia 54 1.472
804
THY030 Thyroid Gland Disease 50 1.470
805
PYR010 Peyronie's Disease 50 1.467
806
ERY029 Erythermalgia, Primary 58 1.464
807
BRS099 Breast Ductal Carcinoma 61 1.459
808
CRN295 Carnitine Palmitoyltransferase I Deficiency 55 1.458
809
CLF027 Cleft Palate, Isolated 64 1.458
810
HRD112 Hereditary Thrombocytopenia with Normal Platelets 21 1.449
811
P SYS005 Systemic Scleroderma 74 1.446
812
HRT015 Heritable Pulmonary Arterial Hypertension 46 1.444
813
P HYP098 Hypereosinophilic Syndrome 66 1.438
814
PRT037 Pertussis 65 1.438
815
PYR037 Pyruvate Carboxylase Deficiency 45 1.438
816
ADN024 Adenine Phosphoribosyltransferase Deficiency 53 1.433
817
P FML023 Familial Hemiplegic Migraine 53 1.431
818
DMT001 Dimethylglycine Dehydrogenase Deficiency 27 1.421
819
ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 56 1.420
820
MNN043 Meningioma, Familial 79 1.417
821
ATN005 Autonomic Dysfunction 46 1.417
822
c SYS043 Systemic Lupus Erythematosus 1 38 1.416
823
HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 35 1.416
824
CRD137 Cardiogenic Shock 56 1.415
825
P PNT019 Pontocerebellar Hypoplasia 46 1.415
826
CTS005 Catastrophic Antiphospholipid Syndrome 43 1.414
827
ANR007 Anorexia Nervosa 60 1.412
828
P HRP006 Herpes Simplex 65 1.412
829
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 31 1.412
830
TRD006 Tardive Dyskinesia 53 1.412
831
ERY003 Erythema Multiforme 56 1.412
832
P ART018 Aortic Valve Insufficiency 52 1.410
833
SVR004 Severe Combined Immunodeficiency 72 1.410
834
c BSL007 Basal Cell Carcinoma 68 1.409
835
LYS012 Lysosomal Acid Lipase Deficiency 65 1.407
836
c JBR018 Joubert Syndrome 4 52 1.405
837
P ESP024 Esophagitis 60 1.404
838
c HYP602 Hyperoxaluria, Primary, Type Ii 49 1.404
839
RTH007 Rothmund-Thomson Syndrome, Type 1 37 1.404
840
P TRT019 Torticollis 47 1.401
841
c NPH074 Nephrotic Syndrome, Type 9 24 1.401
842
P LCH002 Lichen Planus 54 1.396
843
SPN035 Spindle Cell Sarcoma 54 1.392
844
ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 45 1.392
845
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 57 1.387
846
FRB001 Farber Lipogranulomatosis 58 1.381
847
c ART115 Aortic Valve Disease 1 74 1.373
848
P OCY003 Oocyte Maturation Defect 1 46 1.372
849
P DYS021 Dysautonomia 38 1.370
850
P VSC011 Vasculitis 61 1.369
851
MTH078 Methylmalonic Aciduria, Cblb Type 42 1.367
852
ACR008 Acrocallosal Syndrome 70 1.367
853
P ALG028 Alagille Syndrome 1 73 1.367
854
RSC001 Rosacea 55 1.366
855
NRL002 Neurilemmomatosis 52 1.363
856
c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 46 1.361
857
MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 46 1.360
858
c MTC060 Mitochondrial Dna Depletion Syndrome 9 50 1.356
859
OVR094 Ovarian Epithelial Cancer 39 1.356
860
DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 66 1.353
862
P LPR021 Leprosy 3 71 1.351
863
PRS131 Prostate Cancer/brain Cancer Susceptibility 23 1.351
864
VRC005 Varicose Veins 60 1.349
865
OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 57 1.348
866
VRG001 Variegate Porphyria 56 1.348
867
c GLY007 Glycogen Storage Disease Iv 58 1.345
868
ADN001 Adenosine Deaminase Deficiency 59 1.345
869
ERY066 Erythema Multiforme Major 29 1.333
870
VCC001 Vaccinia 47 1.333
871
SBC016 Subacute Delirium 43 1.333
872
CHL067 Cholecystitis 60 1.331
873
HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 34 1.325
874
P CYS018 Cystitis 59 1.324
875
P BRS044 Breast Adenocarcinoma 58 1.323
876
c PCH015 Pachyonychia Congenita 1 60 1.320
877
VTM033 Vitamin K Deficiency Bleeding 48 1.315
878
GLC024 Glucose Transporter Type 1 Deficiency Syndrome 39 1.313
879
c L2H001 L-2-Hydroxyglutaric Aciduria 49 1.313
880
LMB062 Limb Ischemia 55 1.310
881
GTR002 Goiter 53 1.308
882
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 1.303
883
ADR054 Adrenocortical Carcinoma, Hereditary 47 1.303
884
P CTS001 Cutis Laxa 65 1.295
885
c HRD010 Hereditary Spastic Paraplegia 66 1.294
886
c HMP023 Hemophagocytic Lymphohistiocytosis, Familial, 5 41 1.292
887
INT072 Intestinal Pseudo-Obstruction 62 1.292
888
PRP080 Peripheral Artery Disease 54 1.287
889
PST028 Post-Traumatic Stress Disorder 59 1.286
890
CRN041 Carnitine-Acylcarnitine Translocase Deficiency 49 1.278
891
RYN005 Raynaud Phenomenon 45 1.278
892
DPH001 Diphtheria 59 1.273
893
P VTR007 Vitreoretinopathy 46 1.260
894
ALP103 Alpha-1-Antitrypsin Deficiency 68 1.260
895
RGD003 Rigid Spine Muscular Dystrophy 1 56 1.260
896
PST092 Posttransplant Acute Limbic Encephalitis 28 1.260
897
CHL004 Cholelithiasis 49 1.258
898
INT075 Intracranial Hypertension 53 1.255
899
FDL002 Food Allergy 47 1.255
900
ENT004 Enthesopathy 51 1.255
901
HYP555 Hypertriglyceridemia, Transient Infantile 38 1.253
902
GST033 Gestational Diabetes 61 1.252
903
P RDC010 Reducing Body Myopathy 33 1.252
904
SCR037 Sucrase-Isomaltase Deficiency, Congenital 49 1.248
905
THY029 Thyroid Carcinoma 51 1.245
906
c ACT073 Acute Leukemia 58 1.245
907
TND005 Tendinitis 54 1.245
908
CYS013 Cystinuria 66 1.243
909
MCS002 Mucositis 56 1.239
910
PYR025 Pyruvate Dehydrogenase E2 Deficiency 31 1.237
911
c MTR020 Maturity-Onset Diabetes of the Young, Type 3 54 1.235
912
c FCL025 Focal Segmental Glomerulosclerosis 1 49 1.234
913
P SPN046 Spinal Muscular Atrophy 63 1.234
914
PCK003 Pick Disease of Brain 69 1.231
915
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 42 1.225
916
c THR037 Thrombocytopenia 2 37 1.222
917
RNL024 Renal Glucosuria 60 1.220
918
CMP034 Complete Androgen Insensitivity Syndrome 55 1.210
919
P THR005 Thrombotic Thrombocytopenic Purpura 64 1.210
920
ACT098 Acute Erythroid Leukemia 55 1.201
921
P HRD144 Hereditary Mixed Polyposis Syndrome 54 1.201
922
MTB009 Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression 21 1.201
923
TBC004 Tobacco Addiction 63 1.200
924
DHY010 Dihydrolipoamide Dehydrogenase Deficiency 47 1.198
925
MCH006 Mechanical Strabismus 40 1.197
926
c GLC078 Glaucoma 1, Open Angle, F 34 1.196
927
SJG002 Sjogren-Larsson Syndrome 54 1.188
928
RMS001 Rem Sleep Behavior Disorder 47 1.184
929
P PRR025 Perrault Syndrome 42 1.184
930
FLT009 Folate Malabsorption, Hereditary 49 1.184
931
VTL009