Search results for Coenzyme A

1339 hits were found for Coenzyme A

# Family MCID Name MIFTS Score
1
CNZ001 Coenzyme Q10 Deficiency Disease 41 47.739
2
CNZ006 Coenzyme Q10 Deficiency, Primary, 1 42 41.538
3
CNZ005 Coenzyme Q10 Deficiency, Primary, 4 41 38.865
4
CNZ009 Coenzyme Q10 Deficiency, Primary, 5 37 37.151
5
CNZ008 Coenzyme Q10 Deficiency, Primary, 6 34 36.957
6
CNZ004 Coenzyme Q10 Deficiency, Primary, 3 32 35.946
7
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 34 35.557
8
CNZ010 Coenzyme Q10 Deficiency, Primary, 7 41 35.000
9
MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 34 32.408
10
CNZ011 Coenzyme Q10 Deficiency, Primary, 8 25 28.905
11
MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 59 22.639
12
ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 63 20.644
13
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 18.299
14
LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 58 17.900
15
ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 58 17.693
16
MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 50 16.621
17
ALP077 Alpha-Methylacetoacetic Aciduria 52 16.144
18
MTC207 Mitochondrial Complex Ii Deficiency, Nuclear Type 1 57 15.369
19
P TMR010 Tumor Predisposition Syndrome 69 15.053
20
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 70 14.953
21
INH023 Inherited Cancer-Predisposing Syndrome 53 14.952
22
ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 54 14.885
23
c HYP836 Hypercholesterolemia, Familial, 1 73 14.660
24
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 64 14.105
25
GLT035 Glutaric Acidemia I 57 13.894
26
c ATR087 Atrial Standstill 1 74 12.778
27
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 46 12.018
28
P BRS047 Breast Cancer 97 10.748
29
3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 51 10.614
30
P MYP004 Myopathy 67 10.336
31
3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 52 9.897
32
2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 38 9.541
33
MLN011 Malonyl-Coa Decarboxylase Deficiency 37 9.537
34
c FML021 Familial Hypercholesterolemia 71 9.347
35
ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 36 8.925
36
P HRD200 Hereditary Breast Ovarian Cancer Syndrome 67 8.315
37
P RTN008 Retinitis Pigmentosa 79 8.145
38
P CNR004 Cone-Rod Dystrophy 2 74 8.131
39
c MTC059 Mitochondrial Dna Depletion Syndrome 5 49 8.088
40
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 7.979
41
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 7.608
42
P HYP061 Hypertrophic Cardiomyopathy 68 7.559
43
LGH007 Leigh Syndrome 70 7.281
44
P SZR006 Seizure Disorder 69 7.226
45
c DLT002 Dilated Cardiomyopathy 79 7.103
46
P PRK057 Parkinson Disease, Late-Onset 79 6.829
47
c MGR028 Migraine with or Without Aura 1 63 6.770
48
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 6.688
49
c AMY091 Amyotrophic Lateral Sclerosis 1 87 6.595
50
P ENC018 Encephalopathy 62 6.588
51
c TYP009 Type 2 Diabetes Mellitus 91 6.535
52
AGN016 Aging 53 6.467
53
P PRK039 Parkinsonism 55 6.442
54
P LYN001 Lynch Syndrome 76 6.292
55
c HYP595 Hypertension, Essential 84 6.263
56
P KDN018 Kidney Disease 71 6.255
57
P NRP001 Neuropathy 59 6.243
58
MSC157 Muscular Dystrophy, Duchenne Type 78 6.103
59
P ANR048 Aniridia 1 66 6.093
60
CNG034 Congestive Heart Failure 69 6.039
61
P HRT032 Heart Disease 84 6.010
62
CYS001 Cystic Fibrosis 77 5.989
63
LPP008 Lipoprotein Quantitative Trait Locus 65 5.970
64
c FNC027 Fanconi Anemia, Complementation Group a 80 5.830
65
c TBR025 Tuberous Sclerosis 1 84 5.798
66
ANT039 Antisynthetase Syndrome 55 5.777
67
P MTC069 Mitochondrial Disorders 57 5.777
68
c BLD140 Blood Group, I System 47 5.750
69
KRT002 Keratomalacia 54 5.712
70
P CHR071 Charcot-Marie-Tooth Disease 64 5.708
71
P CLR023 Colorectal Cancer 100 5.706
72
HYP056 Hypoglycemia 65 5.659
73
c OVR114 Ovarian Cancer 1 60 5.564
74
LPD008 Lipid Metabolism Disorder 61 5.550
75
STR067 Stroke, Ischemic 79 5.539
76
ART140 Arteries, Anomalies of 52 5.470
77
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 60 5.435
78
48X005 48,xyyy 39 5.419
79
P MSC005 Muscular Dystrophy 66 5.411
80
P CRN300 Coronary Heart Disease 1 73 5.401
81
P INF032 Infertility 60 5.373
82
P NRB001 Neuroblastoma 66 5.351
83
ADL002 Adult Syndrome 69 5.290
84
P ATX030 Ataxia-Telangiectasia 80 5.273
85
FTT001 Fatty Liver Disease 61 5.243
86
ISC004 Ischemia 61 5.210
87
P DBT009 Diabetes Mellitus 67 5.126
88
FML035 Familial Hyperlipidemia 54 5.080
89
P NPH012 Nephrotic Syndrome 61 5.043
90
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 5.038
91
NNL005 Non-Alcoholic Fatty Liver Disease 63 5.035
92
P ALZ034 Alzheimer Disease 87 5.021
93
END086 End Stage Renal Disease 54 4.990
94
c CHR684 Chronic Kidney Disease 73 4.959
95
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 4.927
96
CRH001 Crohn's Disease 80 4.899
97
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 56 4.868
98
ATH013 Atherosclerosis Susceptibility 63 4.865
99
RHB024 Rhabdomyosarcoma 2 65 4.852
100
P HNT016 Huntington Disease 73 4.833
101
ACR006 Aceruloplasminemia 63 4.799
102
HMZ003 Homozygous Familial Hypercholesterolemia 60 4.780
103
P CRD246 Cardiovascular System Disease 55 4.777
104
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 4.770
105
P LCT001 Lactic Acidosis 50 4.693
106
c BRS110 Breast-Ovarian Cancer, Familial 1 57 4.686
108
RNL114 Renal Cell Carcinoma, Nonpapillary 79 4.667
109
DSS008 Disease of Mental Health 74 4.656
110
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 4.646
111
P PRS040 Prostate Cancer 95 4.640
112
MTC005 Mitochondrial Metabolism Disease 44 4.634
113
P BDY004 Body Mass Index Quantitative Trait Locus 11 82 4.618
114
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 51 4.604
115
P DYS154 Dystonia 64 4.588
116
P LNG028 Long Qt Syndrome 63 4.551
117
c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 67 4.518
118
P MTC133 Mitochondrial Myopathy 51 4.513
119
P LNG032 Lung Cancer 98 4.490
120
PRT251 Proteinuria, Chronic Benign 58 4.489
121
FBR047 Fibromyalgia 57 4.463
122
c BRN108 Branchiootic Syndrome 1 63 4.460
123
P ZLL001 Zellweger Syndrome 65 4.390
124
INT323 Intraocular Pressure Quantitative Trait Locus 63 4.335
125
DWN001 Down Syndrome 70 4.314
126
c NRF024 Neurofibromatosis, Type I 76 4.305
127
P EPL164 Epilepsy 70 4.249
128
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65 4.197
129
CRD223 Cardiac Arrhythmia 63 4.196
130
P HDC001 Headache 56 4.183
131
P HYP750 Hypertriglyceridemia, Familial 61 4.174
132
P HPT021 Hepatitis 68 4.142
133
PPL049 Papillon-Lefevre Syndrome 65 4.139
134
P PLY011 Polycystic Ovary Syndrome 57 4.136
135
P CRD119 Cardiac Arrest 68 4.129
136
P TRN020 Turner Syndrome 67 4.103
137
MYL009 Myelodysplastic Syndrome 67 4.096
138
OHT001 Ohtahara Syndrome 39 4.088
139
P LTR001 Lateral Sclerosis 57 4.083
140
CRB039 Cerebrovascular Disease 65 4.071
141
c LKM061 Leukemia, Acute Myeloid 83 4.026
142
P MLN007 Male Infertility 56 4.005
143
P HPT023 Hepatocellular Carcinoma 95 3.999
144
RNL065 Renal Cell Carcinoma, Papillary, 1 79 3.995
145
MTB008 Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 42 3.987
146
P ALP004 Alport Syndrome 69 3.974
147
c HPT003 Hepatitis a 63 3.941
148
MTC004 Mitochondrial Encephalomyopathy 42 3.939
149
WST001 West Syndrome 64 3.930
150
LBR036 Leber Plus Disease 67 3.894
151
P MYC007 Myocardial Infarction 69 3.891
152
VNT035 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy 65 3.883
153
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 3.879
154
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 3.847
155
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 3.847
156
MRF001 Marfan Syndrome 76 3.822
157
PLM134 Pulmonary Fibrosis, Idiopathic 76 3.822
158
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 3.798
159
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 3.798
160
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 62 3.792
161
HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 61 3.781
162
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 69 3.768
163
P JBR020 Joubert Syndrome 1 74 3.766
164
P PRP019 Peripheral Nervous System Disease 57 3.766
165
P PNC035 Pancreatic Cancer 87 3.762
166
P HYP265 Hypotonia 42 3.749
167
c INH020 Inherited Metabolic Disorder 47 3.747
168
PHN003 Phenylketonuria 76 3.747
169
P MLT020 Multiple Sclerosis 79 3.740
170
FND002 Fundus Dystrophy 54 3.733
171
P MTH008 Methylmalonic Acidemia 52 3.726
172
DFC004 Deficiency Anemia 74 3.718
173
P ATS364 Autism 72 3.689
174
c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 42 3.680
175
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 3.677
176
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 3.677
177
c BDY019 Body Mass Index Quantitative Trait Locus 18 46 3.677
178
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 3.677
179
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 3.677
180
MTC023 Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 44 3.638
181
c PRC016 Pre-Eclampsia 64 3.629
182
P OPN001 Open-Angle Glaucoma 55 3.616
183
OCL069 Ocular Motor Apraxia 57 3.591
184
c HYP272 Hypercholesterolemia, Familial, 3 46 3.566
185
MLT157 Multiple System Atrophy 1 69 3.559
186
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 62 3.540
187
c ATS007 Autism Spectrum Disorder 71 3.522
188
P LFT003 Left Ventricular Noncompaction 58 3.515
189
P LVR013 Liver Disease 68 3.510
190
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 69 3.510
191
P PRD008 Periodontitis 63 3.483
192
c MCR120 Microvascular Complications of Diabetes 7 47 3.444
193
ATX019 Ataxia with Vitamin E Deficiency 44 3.404
194
KRN002 Kearns-Sayre Syndrome 62 3.385
195
c MTR018 Maturity-Onset Diabetes of the Young, Type 1 62 3.371
196
SPS057 Spasticity 43 3.369
197
MNT002 Mental Depression 56 3.354
198
CRB009 Cerebritis 43 3.344
199
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 65 3.344
200
c PLM164 Pulmonary Hypertension, Primary, 1 75 3.328
201
P DMN002 Dementia 65 3.323
202
c TYP008 Type 1 Diabetes Mellitus 77 3.310
203
P SCH015 Schizophrenia 74 3.302
204
TRG019 Trigonocephaly with Short Stature and Developmental Delay 38 3.271
205
P SPR120 Supranuclear Palsy, Progressive, 1 68 3.266
206
c MJR022 Major Affective Disorder 8 37 3.261
207
c MJR024 Major Affective Disorder 9 40 3.261
208
P BPL003 Bipolar Disorder 56 3.261
209
P MPL001 Maple Syrup Urine Disease 69 3.255
210
ISL099 Isolated Methylmalonic Acidemia 35 3.250
211
P MLN008 Melanoma 75 3.248
212
P EYD002 Eye Disease 57 3.237
213
P TBR001 Tuberous Sclerosis 69 3.205
214
ERL001 Early Myoclonic Encephalopathy 62 3.198
215
P OVR042 Ovarian Cancer 88 3.181
216
P GLC113 Galactosemia I 65 3.178
217
RPD005 Rapidly Involuting Congenital Hemangioma 48 3.164
218
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25 3.158
219
SPN186 Spinal Cord Injury 60 3.155
220
BRT054 Brittle Bone Disorder 74 3.143
221
DPR016 Depression 64 3.142
222
P ATX024 Ataxia-Oculomotor Apraxia 3 46 3.136
223
LPT014 Leptin Deficiency or Dysfunction 77 3.135
224
P MYC084 Mycobacterium Tuberculosis 1 68 3.127
225
HYP781 Hypoascorbemia 52 3.121
226
CRD132 Cardiac Conduction Defect 59 3.117
227
P ART022 Arthritis 70 3.117
228
NRR001 Neuroretinitis 42 3.112
229
RTN023 Retinitis 45 3.112
230
HYP066 Hyperglycemia 60 3.108
231
PLM129 Pulmonary Disease, Chronic Obstructive 74 3.107
232
P ADN016 Adenocarcinoma 63 3.096
233
P NJM001 Nijmegen Breakage Syndrome 75 3.082
234
P MTC003 Metachromatic Leukodystrophy 71 3.074
235
ADR007 Adrenoleukodystrophy 73 3.042
236
c ATS307 Autosomal Recessive Cerebellar Ataxia 38 3.038
237
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 3.033
238
P RTT002 Rett Syndrome 79 3.033
239
GLB002 Glioblastoma 67 3.019
240
INS024 Insulin-Like Growth Factor I 77 3.019
241
P LKM002 Leukemia 65 3.014
242
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 55 2.998
243
MTC027 Mitochondrial Trifunctional Protein Deficiency 58 2.990
244
HMN014 Human Immunodeficiency Virus Infectious Disease 54 2.989
245
P PHC003 Pheochromocytoma 70 2.978
246
c PNS012 Paine Syndrome 60 2.967
247
c GLY008 Glycogen Storage Disease Ii 72 2.959
248
GLL048 Glial Tumor 51 2.943
249
P OST002 Osteoporosis 76 2.943
250
DRM006 Dermatitis 61 2.940
251
P CLS054 Classic Ehlers-Danlos Syndrome 57 2.936
252
MLR004 Malaria 77 2.931
253
HPT004 Hepatic Coma 43 2.907
254
P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 57 2.895
255
ALC007 Alcohol Dependence 65 2.892
256
AMY027 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 57 2.888
257
P FCL005 Focal Segmental Glomerulosclerosis 57 2.882
258
c HYP724 Hyperlipoproteinemia, Type Iii 66 2.877
259
P MTR014 Motor Neuron Disease 65 2.863
260
c SML038 Small Cell Cancer of the Lung 68 2.849
261
P VSC007 Vascular Disease 62 2.846
262
P DRR001 Diarrhea 55 2.843
263
c MLT160 Multiple Endocrine Neoplasia, Type Iia 67 2.813
264
P HYP802 Hypocalcemia, Autosomal Dominant 1 68 2.811
265
c HPT001 Hepatitis C 61 2.801
266
P HYP838 Hyperlipidemia, Familial Combined, 3 61 2.796
267
c MCR133 Microvascular Complications of Diabetes 4 41 2.784
268
c MCR113 Microvascular Complications of Diabetes 3 52 2.784
269
c MCR130 Microvascular Complications of Diabetes 6 41 2.784
270
P HYP086 Hypothyroidism 68 2.782
271
NTR005 Nutritional Deficiency Disease 60 2.775
272
P SNS001 Sensorineural Hearing Loss 60 2.771
273
MSC007 Muscle Hypertrophy 64 2.768
274
TXC005 Toxic Shock Syndrome 61 2.752
275
P PNC044 Pancreatitis 61 2.745
276
c EPS039 Episodic Pain Syndrome, Familial, 1 42 2.739
277
c BDY021 Body Mass Index Quantitative Trait Locus 20 49 2.738
278
P NRN021 Neuronal Ceroid Lipofuscinosis 64 2.737
279
c PNC108 Pancreatitis, Hereditary 68 2.733
280
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 2.721
281
c MCR115 Microvascular Complications of Diabetes 5 65 2.707
282
c ACT071 Acute Kidney Failure 60 2.707
283
P MCR129 Microvascular Complications of Diabetes 1 67 2.699
284
MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 57 2.695
285
c MCP001 Mucopolysaccharidosis Iii 69 2.687
286
MYL069 Myeloma, Multiple 76 2.682
287
OST012 Osteoarthritis 77 2.674
288
CRB037 Cerebral Palsy 66 2.673
289
c ACT027 Acute Pancreatitis 60 2.670
290
PRP001 Propionic Acidemia 65 2.666
291
END040 Endogenous Depression 54 2.664
292
QLT008 Qualitative or Quantitative Defects of Dysferlin 30 2.654
293
DYS030 Dysferlinopathy 39 2.654
294
HYP266 Hypoxia 56 2.650
295
ISV001 Isovaleric Acidemia 54 2.646
296
RSP023 Rasopathy 54 2.643
297
P GST053 Gastric Cancer 82 2.642
298
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 63 2.632
299
P MTR004 Maturity-Onset Diabetes of the Young 66 2.619
300
P NRV007 Nervous System Disease 65 2.619
301
MNN047 Mannosidosis, Alpha B, Lysosomal 67 2.603
302
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 2.589
303
P ACN011 Acne 55 2.588
304
CNN005 Connective Tissue Disease 66 2.586
305
c MCP050 Mucopolysaccharidosis, Type Ii 73 2.573
306
P KHL003 Kohlschutter-Tonz Syndrome 57 2.564
307
c ATS347 Autosomal Dominant Polycystic Kidney Disease 64 2.563
308
NRM005 Neuromuscular Disease 62 2.559
309
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 2.557
310
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 2.557
311
SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 34 2.553
312
c SYS001 Systemic Lupus Erythematosus 85 2.529
313
P DRM053 Dermatitis, Atopic 65 2.526
314
NRT001 Neurotic Disorder 56 2.519
315
HPT019 Hepatic Encephalopathy 59 2.519
316
PNC129 Pancreatic Adenocarcinoma 64 2.516
317
P RHM011 Rheumatoid Arthritis 81 2.516
318
GNT179 Genetic Steroid-Resistant Nephrotic Syndrome 40 2.514
319
P MLG056 Malignant Hyperthermia 65 2.505
320
AND005 Androgen Insensitivity Syndrome, Mild 21 2.497
321
FRS002 Frasier Syndrome 54 2.495
322
PLY105 Polycystic Ovary Syndrome 1 39 2.491
323
P AST005 Asthma 75 2.491
324
GLS018 Glass Syndrome 60 2.484
325
c CWD006 Cowden Syndrome 1 78 2.478
326
P RTN024 Retinoblastoma 72 2.463
327
PST011 Pustulosis of Palm and Sole 52 2.459
328
P PSR002 Psoriasis 63 2.459
329
P CHR345 Chronic Pain 50 2.456
330
c HMC039 Hemochromatosis, Type 1 73 2.445
331
P TRM003 Tremor 50 2.440
332
P OPT006 Optic Nerve Disease 57 2.440
333
HYP080 Hypogonadism 49 2.434
334
c GLC092 Glaucoma, Primary Open Angle 60 2.425
335
SDD001 Sudden Infant Death Syndrome 60 2.416
336
P PLY014 Polycystic Kidney Disease 71 2.416
337
P ATT013 Attention Deficit-Hyperactivity Disorder 65 2.412
338
IMM167 Immune Deficiency Disease 76 2.410
339
c MCP045 Mucopolysaccharidosis, Type Iiic 58 2.405
340
P LYM118 Lymphoma 66 2.402
341
P ALC033 Alcohol Use Disorder 67 2.400
342
LGH017 Leigh Syndrome with Nephrotic Syndrome 29 2.400
343
c ACT075 Acute Myocardial Infarction 55 2.397
344
c SPR086 Spermatogenic Failure 3 47 2.393
345
RLP002 Relapsing-Remitting Multiple Sclerosis 56 2.392
346
GLT018 Glut1 Deficiency Syndrome 1 42 2.386
347
P LPS004 Lupus Erythematosus 61 2.383
348
c ATS013 Autosomal Recessive Congenital Ichthyosis 66 2.380
349
WLS001 Wilson Disease 70 2.378
350
DBT010 Diabetic Neuropathy 54 2.372
351
LNG099 Lung Disease 62 2.361
352
GNG013 Gingivitis 59 2.355
353
BRN071 Brain Injury 50 2.353
354
P SJG008 Sjogren Syndrome 60 2.345
355
ADN090 Adenosylcobalamin Deficiency 35 2.337
356
c 3MT015 3-Methylglutaconic Aciduria, Type I 51 2.337
357
P PRM002 Primary Hyperoxaluria 65 2.333
358
THR024 Thrombosis 56 2.329
359
c MCR112 Microvascular Complications of Diabetes 2 42 2.327
360
TTH006 Tooth Disease 51 2.327
361
CLT003 Colitis 63 2.322
362
KRT006 Keratoconjunctivitis 53 2.322
363
DRY001 Dry Eye Syndrome 49 2.316
364
P MYL006 Myeloid Leukemia 60 2.315
365
P CTR002 Cataract 59 2.312
366
GLM045 Glioma 62 2.310
367
CRY008 Cryopyrin-Associated Periodic Syndrome 48 2.309
368
P HYP818 Hypobetalipoproteinemia, Familial, 1 60 2.297
369
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 66 2.294
370
P THR014 Thrombocytopenia 66 2.288
371
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 37 2.279
372
MVL001 Mevalonic Aciduria 65 2.279
373
XLN231 X-Linked Alport Syndrome 41 2.268
374
BTN004 Biotin Deficiency 44 2.257
375
HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 48 2.249
376
P EXN002 Exanthem 58 2.249
377
c EXD008 Exudative Vitreoretinopathy 1 71 2.248
378
P ATR011 Atrial Fibrillation 66 2.247
379
c GLY003 Glycogen Storage Disease Iii 60 2.246
380
CRV035 Cervical Cancer 72 2.237
381
IRN002 Iron Metabolism Disease 56 2.236
382
c PRG094 Paragangliomas 5 29 2.234
383
P HML002 Hemolytic Anemia 62 2.234
384
c BTT014 Beta-Thalassemia 72 2.233
385
RCK004 Rickets 64 2.231
386
P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 66 2.228
387
c WLM013 Wilms Tumor 1 65 2.224
388
c GLL024 Gallbladder Disease 1 53 2.220
389
CYT002 Cytokine Deficiency 43 2.218
390
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 65 2.214
391
NNL006 Non-Alcoholic Steatohepatitis 54 2.213
392
P HLP001 Holoprosencephaly 68 2.210
393
47X002 47,xyy 47 2.210
394
c PRX059 Peroxisome Biogenesis Disorder 1a 57 2.199
395
KRT001 Keratoconjunctivitis Sicca 49 2.198
396
LYM019 Lymphosarcoma 46 2.195
397
P FML068 Familial Hypocalciuric Hypercalcemia 55 2.183
398
P CNJ013 Conjunctivitis 66 2.182
399
CYS010 Cystinosis 61 2.182
400
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 47 2.178
401
P PLM037 Pulmonary Hypertension 69 2.174
402
P LMB006 Limb-Girdle Muscular Dystrophy 52 2.174
403
PRS047 Prostatitis 57 2.166
404
P BCK002 Beckwith-Wiedemann Syndrome 61 2.155
405
INT002 Intermittent Claudication 61 2.152
406
P MCR010 Microcephaly 59 2.151
407
P ECL001 Eclampsia 52 2.144
408
P HYP050 Hyperinsulinemic Hypoglycemia 56 2.126
409
ATM095 Autoimmune Disease 61 2.119
410
c DRR009 Diarrhea 6 46 2.110
411
P BCL017 B-Cell Lymphoma 57 2.100
412
c HPT016 Hepatitis B 62 2.099
413
ACT011 Acute Contagious Conjunctivitis 41 2.098
414
GST040 Gastric Adenocarcinoma 66 2.094
415
P CRD224 Cardiofaciocutaneous Syndrome 1 71 2.091
416
TRM010 Traumatic Brain Injury 50 2.082
417
P INT099 Intrahepatic Cholestasis of Pregnancy 61 2.070
418
c THR092 Thrombophilia Due to Thrombin Defect 74 2.068
419
CRB011 Cerebrotendinous Xanthomatosis 64 2.060
420
c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 67 2.060
421
P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 40 2.049
422
P SLP006 Sleep Apnea 69 2.043
423
P APL001 Aplastic Anemia 72 2.031
424
P MDL005 Medulloblastoma 75 2.024
425
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 67 2.024
426
FBR012 Fabry Disease 71 2.023
427
LBR038 Leber Hereditary Optic Neuropathy, Modifier of 62 2.020
428
GLY111 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib 36 2.019
429
DYS073 Dysphagia 53 2.016
430
XRD010 Xeroderma Pigmentosum, Variant Type 72 2.016
431
c NPH055 Nephrotic Syndrome, Type 1 52 2.014
432
c HYP837 Hypercholesterolemia, Familial, 2 46 2.010
433
P RSP003 Respiratory Failure 73 2.009
434
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 2.006
435
c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 61 2.002
436
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 2.001
437
P HYP076 Hyperthyroidism 53 2.000
438
HMN044 Human Immunodeficiency Virus Type 1 76 2.000
439
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58 1.997
440
P LKM062 Leukemia, Acute Lymphoblastic 69 1.995
441
P MJR007 Major Affective Disorder 1 42 1.994
442
c MJR008 Major Affective Disorder 2 34 1.994
443
c MJR006 Major Affective Disorder 5 32 1.994
444
c MJR023 Major Affective Disorder 7 33 1.994
445
c MJR004 Major Affective Disorder 4 28 1.994
446
c MJR003 Major Affective Disorder 6 32 1.994
447
VTM002 Vitamin B12 Deficiency 48 1.993
448
BRN028 Brain Cancer 73 1.992
449
STM007 Stomatitis 52 1.989
450
KRT009 Keratosis 52 1.988
451
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 63 1.983
452
P SCK005 Sickle Cell Disease 56 1.981
453
P KRB001 Krabbe Disease 69 1.979
455
ABT001 Abetalipoproteinemia 68 1.972
456
c HPT073 Hepatitis C Virus 70 1.969
457
MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 52 1.968
458
PRS021 Prostatic Adenoma 43 1.968
459
PRS045 Prostatic Hypertrophy 53 1.968
460
OCL015 Oculomotor Apraxia 39 1.967
461
LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 66 1.965
462
P ALP008 Alopecia 53 1.964
463
P INF037 Inflammatory Bowel Disease 53 1.957
464
c NMN015 Niemann-Pick Disease, Type C1 68 1.956
465
c PRM038 Primary Agammaglobulinemia 47 1.953
466
MGL001 Megaloblastic Anemia 59 1.947
467
c HYP794 Hyperoxaluria, Primary, Type I 63 1.941
468
BCK006 Back Pain 43 1.941
469
P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 57 1.938
470
c PRM092 Primary Lateral Sclerosis, Adult, 1 38 1.937
471
SKN016 Skin Disease 63 1.936
472
PRS129 Prostatic Hyperplasia, Benign 48 1.935
473
VSL002 Visual Epilepsy 39 1.935
474
c PRD040 Periodontitis, Chronic 52 1.934
475
CNG116 Congenital Nephrotic Syndrome Finnish Type 33 1.931
476
END072 Endotheliitis 36 1.926
477
VNH007 Von Hippel-Lindau Syndrome 72 1.925
478
P FRD001 Friedreich Ataxia 62 1.921
479
P KDN017 Kidney Cancer 60 1.919
480
P RHN004 Rhinitis 56 1.918
481
LKC009 Leukocyte Adhesion Deficiency, Type I 69 1.914
482
c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 49 1.912
483
P MVM001 Movement Disease 61 1.911
485
ART002 Arts Syndrome 66 1.908
486
P ORT004 Orthostatic Intolerance 61 1.907
487
SCK003 Sickle Cell Anemia 74 1.905
488
P SKN015 Skin Carcinoma 71 1.899
489
PRR007 Perry Syndrome 53 1.891
490
P LNG064 Lung Cancer Susceptibility 3 69 1.887
491
LPD012 Lipoid Congenital Adrenal Hyperplasia 68 1.885
492
P PNM007 Pneumonia 64 1.885
493
NRL016 Neural Tube Defects 80 1.885
494
GLY010 Glycine Encephalopathy 57 1.878
495
SMT004 Smith-Lemli-Opitz Syndrome 69 1.876
496
EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 52 1.875
497
c MYT027 Myotonia Congenita, Autosomal Dominant 37 1.869
498
RNL078 Renal Dysplasia 46 1.869
499
ANG054 Angina Pectoris 65 1.868
500
ESP021 Esophageal Cancer 84 1.868
501
c MTC056 Mitochondrial Dna Depletion Syndrome 4a 62 1.865
502
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 1.864
503
P LKM071 Leukemia, Chronic Lymphocytic 74 1.860
504
LYM143 Lymphoma, Non-Hodgkin, Familial 74 1.858
505
LWC002 Lowe Oculocerebrorenal Syndrome 68 1.858
506
c MCP043 Mucopolysaccharidosis, Type Iiia 60 1.851
507
RFS006 Refsum Disease, Classic 63 1.851
508
P IMR002 Imerslund-Grasbeck Syndrome 1 41 1.850
509
PRP027 Peripheral Vascular Disease 71 1.847
510
ACQ007 Acquired Immunodeficiency Syndrome 58 1.847
511
c MYS051 Myasthenic Syndrome, Congenital, 5 53 1.846
512
c DRM054 Dermatitis, Atopic, 2 47 1.845
513
APH001 Aphthous Stomatitis 57 1.845
514
c ATM006 Autoimmune Lymphoproliferative Syndrome 75 1.842
515
ULC004 Ulcerative Colitis 74 1.834
516
RSS026 Roussy-Levy Hereditary Areflexic Dystasia 47 1.833
517
HSD004 Hsd10 Mitochondrial Disease 44 1.830
518
ALL003 Allergic Rhinitis 66 1.817
519
SCH003 Schizophreniform Disorder 54 1.814
520
P GCH001 Gaucher's Disease 69 1.814
521
CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 64 1.811
522
ZLL011 Zellweger Spectrum Disorder 45 1.808
523
HGH043 High Grade Glioma 46 1.806
524
c PRX045 Peroxisome Biogenesis Disorder 1b 61 1.801
525
CLS047 Classic Progressive Supranuclear Palsy Syndrome 33 1.795
526
c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 51 1.795
527
P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 40 1.795
528
PRM013 Premature Menopause 57 1.793
529
INT066 Interstitial Lung Disease 60 1.790
530
LVR012 Liver Cirrhosis 62 1.784
531
KRT019 Keratitis, Hereditary 66 1.779
532
P GRF003 Graft-Versus-Host Disease 71 1.779
533
P STS003 Sitosterolemia 53 1.778
534
SPP011 Suppression of Tumorigenicity 12 61 1.773
535
NRV004 Nerve Compression Syndrome 48 1.770
536
LND001 Landau-Kleffner Syndrome 50 1.769
537
c PRG020 Paragangliomas 3 39 1.769
538
P PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 54 1.768
539
NPH009 Nephrolithiasis 54 1.767
540
ATH001 Athabaskan Brainstem Dysgenesis Syndrome 52 1.765
541
P RCT021 Rectum Cancer 54 1.764
542
HYP236 Hyperbilirubinemia, Rotor Type 44 1.757
543
P HRS035 Hirschsprung Disease 1 66 1.752
544
RRG078 Rare Genetic Deafness 38 1.752
545
HNT002 Hantavirus Pulmonary Syndrome 55 1.749
546
c THY056 Thyroid Dyshormonogenesis 3 32 1.743
547
ADR022 Adrenomyeloneuropathy 38 1.736
548
DFF021 Diffuse Mesangial Sclerosis 41 1.733
549
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 45 1.731
550
c GLC111 Galactosemia Ii 54 1.731
551
CNV004 Canavan Disease 61 1.731
552
PSY004 Psychotic Disorder 66 1.731
553
LPT006 Leptin Receptor Deficiency 50 1.722
554
HMC014 Homocysteinemia 52 1.720
555
P CHR012 Chronic Granulomatous Disease 69 1.720
556
INT276 Interatrial Communication 52 1.719
557
END057 Endometrial Cancer 76 1.713
558
c ART101 Aortic Valve Disease 2 65 1.708
559
3MT008 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency 30 1.699
560
NPH091 Nephrolithiasis, Calcium Oxalate 61 1.694
561
BRT005 Barth Syndrome 55 1.693
562
P CRN025 Corneal Dystrophy 49 1.692
563
P PTS002 Ptosis 52 1.690
564
c LKM063 Leukemia, Chronic Myeloid 70 1.683
565
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 59 1.679
566
HYP005 Hypokalemia 55 1.677
567
PRP083 Porphyria, Acute Intermittent 64 1.677
568
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 58 1.671
569
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 43 1.667
570
c DVL034 Developmental and Epileptic Encephalopathy 3 46 1.667
571
P RRH023 Rare Hereditary Hemochromatosis 52 1.667
572
GLY065 Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 41 1.662
573
HMT008 Hematuria, Benign Familial 54 1.659
574
P BLD134 Bladder Cancer 79 1.648
575
c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 52 1.647
576
c VRL010 Viral Hepatitis 52 1.647
577
P RHZ001 Rhizomelic Chondrodysplasia Punctata 57 1.645
578
P HMC002 Homocystinuria 52 1.645
579
OST159 Osteogenic Sarcoma 66 1.644
580
HMT002 Hematologic Cancer 61 1.643
581
c HYD046 Hydatidiform Mole, Recurrent, 1 59 1.639
582
GST010 Gestational Trophoblastic Neoplasm 52 1.639
583
P PRS038 Personality Disorder 65 1.637
584
SCH012 Schizoaffective Disorder 49 1.634
585
DSS032 Disease by Infectious Agent 55 1.633
586
c CHR095 Chronic Progressive External Ophthalmoplegia 48 1.633
587
c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 62 1.631
588
MTH078 Methylmalonic Aciduria, Cblb Type 47 1.624
589
ADN018 Adenoma 58 1.622
590
P RTN016 Retinal Degeneration 52 1.622
591
P HYP024 Hypoparathyroidism 55 1.621
592
MTH040 Methylmalonyl-Coa Epimerase Deficiency 27 1.618
593
IMP005 Impotence 52 1.617
594
HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 50 1.616
595
PHR003 Pharyngitis 57 1.616
596
CNS004 Constipation 56 1.605
597
DSR002 Disorders of Intracellular Cobalamin Metabolism 30 1.602
598
PRX001 Peroxisomal Disease 46 1.589
599
MNC011 Minicore Myopathy with External Ophthalmoplegia 38 1.587
600
3MT011 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 38 1.587
601
c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 30 1.585
602
c INF161 Inflammatory Bowel Disease 28 38 1.585
603
GLS001 Gliosarcoma 63 1.578
604
OCL006 Ocular Hypertension 53 1.577
605
HYP458 Hyper Ige Syndrome 60 1.575
606
PNC041 Pancreatic Ductal Adenocarcinoma 51 1.571
607
P MRN003 Marinesco-Sjogren Syndrome 51 1.569
608
MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 38 1.565
609
VSL013 Visual Impairment and Progressive Phthisis Bulbi 36 1.562
610
SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 57 1.562
611
c OPT053 Optic Atrophy 1 62 1.560
612
P HML033 Hemolytic Uremic Syndrome, Atypical 1 67 1.558
613
DBF001 D-Bifunctional Protein Deficiency 55 1.556
614
P PLY006 Polydactyly 58 1.555
615
P FML018 Familial Mediterranean Fever 73 1.553
616
P MTC010 Mitochondrial Dna Depletion Syndrome 46 1.551
617
MYF002 Myofascial Pain Syndrome 46 1.551
618
BNR002 Bone Resorption Disease 47 1.550
619
c NRB010 Neuroblastoma 1 59 1.548
620
P INF038 Influenza 68 1.541
621
MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 35 1.541
622
PCK003 Pick Disease of Brain 70 1.540
623
AMD002 Amed Syndrome, Digenic 36 1.538
624
P SCL018 Scoliosis 57 1.538
625
P ADL010 Adult Respiratory Distress Syndrome 70 1.538
626
TTR005 Tetrahydrobiopterin Deficiency 49 1.535
627
P PRD006 Prader-Willi Syndrome 60 1.534
628
c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 60 1.533
629
MCP033 Mucopolysaccharidoses 44 1.532
630
HMP009 Haemophilus Influenzae 41 1.527
631
GLC003 Glucose Intolerance 53 1.527
632
P SPN429 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 57 1.521
633
P CRP001 Carpal Tunnel Syndrome 65 1.520
634
RBF001 Riboflavin Deficiency 49 1.518
635
P NRD007 Neurodegeneration with Brain Iron Accumulation 51 1.518
636
MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 28 1.518
637
MTH077 Methylmalonic Aciduria, Cbla Type 45 1.516
638
c ESS001 Essential Tremor 56 1.505
639
NNT017 Neonatal Adrenoleukodystrophy 51 1.505
640
LYM133 Lymphoma, Hodgkin, Classic 69 1.501
641
CHN055 Chanarin-Dorfman Syndrome 61 1.500
642
EPT021 Epithelial Recurrent Erosion Dystrophy 45 1.491
643
NRT004 Neuritis 53 1.483
644
P GLM040 Glioma Susceptibility 1 70 1.483
645
P PRC031 Preeclampsia/eclampsia 1 43 1.483
646
P LKD001 Leukodystrophy 58 1.479
647
ALL029 Allergic Disease 61 1.476
648
P BND020 Bone Disease 60 1.476
649
P PLY019 Polyneuropathy 52 1.475
650
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 56 1.474
651
c ATX040 Ataxia-Telangiectasia-Like Disorder 1 50 1.472
652
BTY001 Butyrylcholinesterase Deficiency 49 1.470
653
P AGN002 Agnosia 53 1.467
654
P NSP012 Nasopharyngeal Carcinoma 60 1.467
655
MTC205 Mitochondrial Complex Iv Deficiency, Nuclear Type 1 57 1.464
656
P END044 Endometriosis 62 1.460
657
CRN030 Coronary Stenosis 50 1.458
658
MTR007 Motor Peripheral Neuropathy 41 1.457
659
P THL005 Thalassemia 56 1.455
660
HRD112 Hereditary Thrombocytopenia with Normal Platelets 24 1.451
661
P BRW001 Brown-Vialetto-Van Laere Syndrome 49 1.448
662
c DNT047 Dentinogenesis Imperfecta Type 2 35 1.443
663
FRN006 Frontotemporal Dementia 68 1.440
664
CRN239 Carnitine Deficiency, Systemic Primary 62 1.432
665
CVD001 Covid-19 59 1.428
666
ART016 Aortic Aneurysm 68 1.421
667
ADN024 Adenine Phosphoribosyltransferase Deficiency 53 1.416
668
c PRG043 Progressive Familial Heart Block, Type Ib 54 1.415
669
c BRW009 Brown-Vialetto-Van Laere Syndrome 1 40 1.413
670
c SYS043 Systemic Lupus Erythematosus 1 38 1.408
671
HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 35 1.408
672
CTS005 Catastrophic Antiphospholipid Syndrome 43 1.408
673
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 1.405
674
ORT008 Orotic Aciduria 56 1.404
675
ANX010 Anxiety 70 1.402
676
c JBR018 Joubert Syndrome 4 53 1.402
677
MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 47 1.399
678
c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 52 1.395
679
c FML015 Familial Nephrotic Syndrome 48 1.391
680
SYS003 Systolic Heart Failure 49 1.389
681
P MCR384 Microcephaly, Epilepsy, and Diabetes Syndrome 1 41 1.379
682
FRC001 Fructose-1,6-Bisphosphatase Deficiency 50 1.374
683
FRB001 Farber Lipogranulomatosis 57 1.373
684
PNC001 Pancytopenia 52 1.372
685
HMS001 Hemosiderosis 48 1.372
686
c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 65 1.369
687
HYP555 Hypertriglyceridemia, Transient Infantile 39 1.369
688
P PSD087 Pseudoxanthoma Elasticum 66 1.363
689
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 57 1.363
690
P OCY003 Oocyte Maturation Defect 1 46 1.362
691
P ICH004 Ichthyosis 56 1.353
692
c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 47 1.352
693
P CND005 Cone Dystrophy 47 1.350
694
PTH003 Pathologic Nystagmus 52 1.348
695
APH002 Aphasia 55 1.346
696
P ART021 Arteriosclerosis 53 1.344
697
HYP348 Hyperglycinuria 38 1.335
698
INS001 Insulinoma 59 1.335
699
SNS003 Sensory Peripheral Neuropathy 51 1.334
700
P PLM036 Pulmonary Fibrosis 65 1.329
701
P FML023 Familial Hemiplegic Migraine 53 1.329
702
BTN003 Biotinidase Deficiency 61 1.327
703
P ALP009 Alopecia Areata 59 1.327
704
DBT002 Diabetic Autonomic Neuropathy 40 1.327
705
P RST002 Restrictive Cardiomyopathy 54 1.326
706
c PRG042 Progressive Familial Heart Block, Type Ia 65 1.316
707
TRG002 Trigeminal Neuralgia 61 1.315
708
BRS051 Breast Disease 58 1.314
709
FCL012 Facial Paralysis 49 1.310
710
MSC152 Muscular Dystrophy, Becker Type 69 1.307
711
ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 61 1.307
712
KFR001 Kufor-Rakeb Syndrome 59 1.305
713
CTR172 Citrullinemia, Classic 64 1.304
714
GLC024 Glucose Transporter Type 1 Deficiency Syndrome 38 1.301
715
MTC008 Mitochondrial Complex Iii Deficiency 35 1.301
716
c NRD016 Neurodegeneration with Brain Iron Accumulation 6 49 1.298
717
P RTN018 Retinal Disease 53 1.296
718
HLC001 Holocarboxylase Synthetase Deficiency 47 1.296
719
PDT043 Pediatric Acute-Onset Neuropsychiatric Syndrome 26 1.295
720
BTT017 Beta-Thalassemia Major 54 1.294
721
P ACT008 Actinic Keratosis 53 1.290
722
c NPH049 Nephrotic Syndrome, Type 2 49 1.286
723
PYR025 Pyruvate Dehydrogenase E2 Deficiency 32 1.286
724
ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 50 1.283
725
MNK001 Menkes Disease 64 1.279
726
ATX049 Ataxia with Vitamin 3 Deficiency 52 1.277
727
MJD001 Majeed Syndrome 39 1.275
728
HYP088 Hyper-Igd Syndrome 51 1.273
729
ALL006 Allergic Asthma 55 1.273
731
P SLP005 Sleep Disorder 61 1.272
732
MLD018 Mild Cognitive Impairment 48 1.272
733
CRV002 Cervix Uteri Carcinoma in Situ 48 1.272
734
CRV045 Cervical Intraepithelial Neoplasia 38 1.272
735
CCN001 Cocaine Dependence 47 1.272
736
CLR030 Clear Cell Renal Cell Carcinoma 53 1.266
737
HPT022 Hepatoblastoma 54 1.264
738
P ALT001 Alternating Hemiplegia of Childhood 56 1.260
739
c GLY004 Glycogen Storage Disease V 62 1.260
740
P MJR001 Major Depressive Disorder 68 1.259
741
P ALG028 Alagille Syndrome 1 73 1.257
742
APN008 Apnea, Obstructive Sleep 66 1.252
743
ANR040 Aneurysm 60 1.252
745
CHR073 Choreatic Disease 53 1.249
746
BRN024 Bronchitis 67 1.246
747
c NPH074 Nephrotic Syndrome, Type 9 24 1.246
748
c FCL025 Focal Segmental Glomerulosclerosis 1 49 1.244
749
P ASP006 Aspergillosis 71 1.239
750
INV001 Invasive Aspergillosis 48 1.239
751
c ART138 Aortic Aneurysm, Familial Abdominal, 1 60 1.238
752
P CRB088 Cerebral Atrophy 32 1.237
753
SNG007 Sengers Syndrome 45 1.234
754
SRC014 Sarcoma 64 1.227
755
P KLZ004 Kala-Azar 1 41 1.227
756
LSH001 Leishmaniasis 63 1.227
757
c HRM005 Hermansky-Pudlak Syndrome 1 55 1.226
758
P MGR001 Migraine Without Aura 48 1.224
759
ACR008 Acrocallosal Syndrome 69 1.221
760
STH001 Saethre-Chotzen Syndrome 65 1.214
761
MNN043 Meningioma, Familial 79 1.213
762
SQM006 Squamous Cell Carcinoma 59 1.213
763
MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 37 1.212
764
ANL018 Analbuminemia 53 1.212
765
PYR010 Peyronie's Disease 50 1.211
766
RNL024 Renal Glucosuria 60 1.210
767
MCR018 Microcytic Anemia 46 1.207
768
c THR037 Thrombocytopenia 2 36 1.207
769
PYR037 Pyruvate Carboxylase Deficiency 45 1.206
770
BCT022 Bacterial Infectious Disease 55 1.204
771
c MTC060 Mitochondrial Dna Depletion Syndrome 9 51 1.201
772
STT001 Status Epilepticus 58 1.200
773
P THY032 Thyroiditis 56 1.199
774
CMB011 Combined Malonic and Methylmalonic Aciduria 43 1.198
775
BRS099 Breast Ductal Carcinoma 61 1.197
776
ERY029 Erythermalgia, Primary 57 1.194
777
HRT015 Heritable Pulmonary Arterial Hypertension 46 1.191
778
c PCH010 Pachyonychia Congenita 3 43 1.189
779
RMS001 Rem Sleep Behavior Disorder 47 1.184
780
c GLC078 Glaucoma 1, Open Angle, F 33 1.184
781
PLC008 Placenta Disease 48 1.182
782
P TRT019 Torticollis 47 1.181
783
CYN002 Cyanosis, Transient Neonatal 43 1.179
784
HMG005 Hemoglobinopathy 55 1.176
785
LYM007 Lymphangioleiomyomatosis 68 1.175
786
EPC002 Epicondylitis 43 1.172
787
BLD131 Bladder Urothelial Carcinoma 59 1.168
788
CMM005 Common Cold 55 1.167
789
DMT001 Dimethylglycine Dehydrogenase Deficiency 27 1.159
790
GST092 Gastroesophageal Reflux 59 1.159
791
P GRV001 Graves' Disease 54 1.158
792
HLC007 Helicobacter Pylori Infection 67 1.154
793
c MTC054 Mitochondrial Dna Depletion Syndrome 7 53 1.153
794
RTH007 Rothmund-Thomson Syndrome, Type 1 37 1.151
795
3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 31 1.151
796
MYL005 Myelofibrosis 70 1.150
797
PRT036 Peritonitis 65 1.149
798
HMP005 Hemiplegia 53 1.148
799
GRS011 Gerstmann-Straussler Disease 56 1.147
800
P ESP024 Esophagitis 60 1.147
801
HYP264 Hypertonia 35 1.147
802
WLF001 Wolff-Parkinson-White Syndrome 63 1.145
803
c HYP602 Hyperoxaluria, Primary, Type Ii 51 1.140
804
ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 44 1.140
805
P STR020 Strabismus 56 1.139
806
CLN015 Colon Adenocarcinoma 64 1.139
807
c SCN036 Secondary Progressive Multiple Sclerosis 55 1.138
808
NTR007 Neutral Lipid Storage Disease with Myopathy 42 1.130
809
FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 39 1.129
810
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 40 1.128
811
CRN295 Carnitine Palmitoyltransferase I Deficiency 55 1.126
812
c MCP044 Mucopolysaccharidosis, Type Iiib 58 1.126
813
P STR092 Striatal Degeneration, Autosomal Dominant 2 44 1.125
814
DMN031 Dementia, Lewy Body 65 1.125
815
P GLM007 Glomerulonephritis 59 1.123
816
TRN015 Transient Cerebral Ischemia 62 1.121
817
BCK003 Background Diabetic Retinopathy 46 1.120
818
c PCH015 Pachyonychia Congenita 1 60 1.115
819
CMB091 Combined Oxidative Phosphorylation Deficiency 39 27 1.114
820
c HMP023 Hemophagocytic Lymphohistiocytosis, Familial, 5 42 1.112
821
P HYD006 Hydrocephalus 62 1.109
822
PLM010 Pulmonary Edema 54 1.108
823
CLR108 Colorectal Adenoma 63 1.108
824
TNG002 Tangier Disease 63 1.108
825
P ANP001 Anaplastic Large Cell Lymphoma 59 1.106
826
NRL002 Neurilemmomatosis 52 1.104
827
P URN019 Urinary Tract Infection 48 1.103
828
ACR007 Acromegaly 70 1.100
829
c GLY007 Glycogen Storage Disease Iv 58 1.098
830
PRS063 Paresthesia 39 1.097
831
CLF027 Cleft Palate, Isolated 64 1.093
832
P MSC003 Muscular Atrophy 52 1.091
833
DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 66 1.091
834
RGD003 Rigid Spine Muscular Dystrophy 1 56 1.091
835
ADN001 Adenosine Deaminase Deficiency 59 1.091
836
P AMY004 Amyloidosis 69 1.090
837
VRG001 Variegate Porphyria 55 1.085
838
PRM329 Premature Aging 36 1.082
839
ANR007 Anorexia Nervosa 59 1.082
840
CHR105 Choreoacanthocytosis 55 1.081
841
GYR004 Gyrate Atrophy of Choroid and Retina 58 1.080
842
P HYP098 Hypereosinophilic Syndrome 66 1.080
843
P MYT002 Myotonic Dystrophy 51 1.078
844
P RHB003 Rhabdomyosarcoma 66 1.076
845
NRD036 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures 32 1.076
846
CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 28 1.074
847
PRP030 Purpura 54 1.073
848
P CYS018 Cystitis 58 1.066
849
BRR014 Barrett Esophagus 66 1.052
850
P PNT019 Pontocerebellar Hypoplasia 45 1.051
851
LYS012 Lysosomal Acid Lipase Deficiency 64 1.051
852
PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 40 1.047
853
GLC009 Glucosephosphate Dehydrogenase Deficiency 52 1.039
854
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 1.038
855
INT072 Intestinal Pseudo-Obstruction 60 1.030
856
P CTS001 Cutis Laxa 64 1.029
857
THY030 Thyroid Gland Disease 50 1.028
858
SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 45 1.026
859
MTH021 Methylmalonic Acidemia with Homocystinuria 44 1.025
860
P FLL037 Follicular Lymphoma 66 1.023
861
DPH001 Diphtheria 59 1.021
862
GST045 Gastroenteritis 58 1.018
863
c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 53 1.011
864
P MYC033 Myoclonus 46 1.010
865
LSC001 Lesch-Nyhan Syndrome 62 1.009
867
THY029 Thyroid Carcinoma 55 1.007
868
c MTC063 Mitochondrial Dna Depletion Syndrome 3 51 1.006
869
c PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 47 1.006
870
SVR001 Severe Acute Respiratory Syndrome 68 1.004
871
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 1.003
872
FDL002 Food Allergy 47 1.001
873
ENT004 Enthesopathy 51 1.001
874
INT075 Intracranial Hypertension 52 1.001
875
SVR097 Severe Cutaneous Adverse Reaction 68 1.000
876
IRR002 Irritable Bowel Syndrome 64 0.998
877
c CNG006 Congenital Hypothyroidism 63 0.994
878
CYS013 Cystinuria 66 0.992
879
ALP103 Alpha-1-Antitrypsin Deficiency 67 0.992
880
P VTR007 Vitreoretinopathy 45 0.992
881
MTH046 Methylmalonic Acidemia Without Homocystinuria 39 0.992
882
VSC002 Vascular Dementia 59 0.989
883
P NTR004 Neutropenia 62 0.989
884
P PRR025 Perrault Syndrome 44 0.986
885
OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 56 0.986
886
CRD137 Cardiogenic Shock 56 0.976
887
PRK046 Parkin Type of Early-Onset Parkinson Disease 21 0.976
888
P HRP006 Herpes Simplex 65 0.976
889
SPL018 Splenomegaly 47 0.974
890
P NNT058 Neonatal Diabetes 52 0.974
891
P ART018 Aortic Valve Insufficiency 52 0.972
892
c MTR020 Maturity-Onset Diabetes of the Young, Type 3 54 0.968
893
CMP034 Complete Androgen Insensitivity Syndrome 55 0.968
894
P ART023 Arthropathy 59 0.968
895
c INF145 Infantile Liver Failure Syndrome 1 44 0.964
896
c OPT051 Opitz Gbbb Syndrome, Type I 45 0.953
897
P THR005 Thrombotic Thrombocytopenic Purpura 64 0.952
898
GTR002 Goiter 52 0.950
899
TRN022 Transcobalamin Ii Deficiency 44 0.946
900
c HYP597 Hyperprolinemia, Type Ii 43 0.943
901
CMB079 Combined Oxidative Phosphorylation Deficiency 29 22 0.942
902
TBC004 Tobacco Addiction 63 0.939
903
P NMN002 Niemann-Pick Disease 60 0.937
904
LYS003 Lysinuric Protein Intolerance 57 0.935
905
PRT037 Pertussis 49 0.935
906
c L2H001 L-2-Hydroxyglutaric Aciduria 49 0.934
907
ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 34 0.933
908
ADR016 Adrenal Cortical Carcinoma 61 0.922
909
RYN005 Raynaud Phenomenon 45 0.918
910
P CTR177 Citrullinemia, Type Ii, Adult-Onset 56 0.918
911
FLT009 Folate Malabsorption, Hereditary 50 0.918
912
ABD010 Abdominal Wall Defect 37 0.916
913
ADR005 Adrenal Carcinoma 58 0.915
914
ILS001 Ileus 49 0.915
915
VRC005 Varicose Veins 59 0.912
916
24D001 2,4-Dienoyl-Coa Reductase Deficiency 35 0.909
917
c RTN177 Retinitis Pigmentosa 73 37 0.909
918
CMP010 Complex Regional Pain Syndrome 59 0.906
919
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 42 0.904
920
c BSL007 Basal Cell Carcinoma 67 0.901
921
DBN001 Dubin-Johnson Syndrome 58 0.900
922
KHN001 Kuhnt-Junius Degeneration 48 0.900
923
PRM236 Primary Biliary Cholangitis 62 0.898
924
P BNG032 Benign Mesothelioma 53 0.898
925
c ACT134 Acute Liver Failure 57 0.895
926
CHL067 Cholecystitis 59 0.892