Search results for Pyruvic acid

2045 hits were found for Pyruvic acid

# Family MCID Name MIFTS Score
1
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 64 76.059
2
PYR041 Pyruvate Kinase Deficiency of Red Cells 57 68.312
3
PYR037 Pyruvate Carboxylase Deficiency 45 66.368
4
PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 41 47.887
5
HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 30 46.640
6
LPD008 Lipid Metabolism Disorder 62 41.101
7
NNL005 Non-Alcoholic Fatty Liver Disease 63 40.917
8
FTT001 Fatty Liver Disease 62 40.467
9
PYR025 Pyruvate Dehydrogenase E2 Deficiency 31 38.790
10
PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 43 38.395
11
c GLY008 Glycogen Storage Disease Ii 72 38.209
12
PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 33 38.057
13
LYS012 Lysosomal Acid Lipase Deficiency 65 37.802
14
CHL068 Cholestasis 61 36.103
15
P MPL001 Maple Syrup Urine Disease 70 35.537
16
GST092 Gastroesophageal Reflux 61 35.467
17
MTB004 Metabolic Acidosis 48 35.245
18
MTC079 Mitochondrial Pyruvate Carrier Deficiency 29 35.094
19
RPD005 Rapidly Involuting Congenital Hemangioma 46 34.750
20
P FRS004 Free Sialic Acid Storage Disorders 41 32.844
21
LVR012 Liver Cirrhosis 63 32.646
22
P LVR013 Liver Disease 69 32.555
23
INF159 Infantile Sialic Acid Storage Disease 41 31.708
24
P LCT001 Lactic Acidosis 51 31.649
25
HLX001 Helix Syndrome 48 31.049
26
PRM236 Primary Biliary Cholangitis 60 30.915
27
HYP014 Hyperuricemia 51 30.264
28
P NRB001 Neuroblastoma 66 29.453
29
RFS006 Refsum Disease, Classic 63 29.293
30
HYP066 Hyperglycemia 61 28.614
31
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 28.169
32
48X005 48,xyyy 39 27.681
33
c TYP009 Type 2 Diabetes Mellitus 92 26.968
34
HYP266 Hypoxia 57 26.931
35
GLL048 Glial Tumor 52 26.610
36
GLM045 Glioma 63 26.582
37
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 26.349
38
P ENC018 Encephalopathy 62 25.890
39
P SZR006 Seizure Disorder 70 25.862
40
DFC004 Deficiency Anemia 74 25.836
41
CLT003 Colitis 63 25.677
42
GT001 Gout 64 25.617
43
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 25.515
44
ISC004 Ischemia 61 25.372
45
NRL016 Neural Tube Defects 81 25.313
46
HYP056 Hypoglycemia 65 25.291
47
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 25.066
48
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 25.066
49
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 25.063
50
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 25.063
51
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 25.058
52
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 25.058
53
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 25.058
54
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 25.058
55
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 25.058
56
P HYP750 Hypertriglyceridemia, Familial 62 25.056
57
P MYP004 Myopathy 67 24.866
58
GLB002 Glioblastoma 67 24.654
59
LPC003 Lipoic Acid Synthetase Deficiency 11 24.633
60
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 59 24.443
61
P BRS047 Breast Cancer 98 24.243
62
c HYP836 Hypercholesterolemia, Familial, 1 73 23.910
63
ALK013 Alkaptonuria 59 23.843
64
ACT119 Acute Promyelocytic Leukemia 62 23.324
65
P PRS040 Prostate Cancer 95 23.172
66
P DDN001 Duodenal Ulcer 53 22.932
67
DHY010 Dihydrolipoamide Dehydrogenase Deficiency 47 22.921
68
P CLR023 Colorectal Cancer 100 22.817
69
BNR002 Bone Resorption Disease 47 22.807
70
c GLL024 Gallbladder Disease 1 52 22.734
71
BRN071 Brain Injury 50 22.655
72
HYP060 Hyperinsulinism 54 22.620
73
c CHR684 Chronic Kidney Disease 69 22.546
74
NNL006 Non-Alcoholic Steatohepatitis 54 22.538
75
HYP781 Hypoascorbemia 52 22.464
76
P CRN300 Coronary Heart Disease 1 73 22.422
77
AGN016 Aging 54 22.402
78
P ACN011 Acne 57 22.393
79
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 22.263
80
ISV001 Isovaleric Acidemia 54 22.180
81
HRT031 Hartnup Disorder 52 22.109
82
P DBT009 Diabetes Mellitus 67 21.925
83
P HML002 Hemolytic Anemia 62 21.918
84
HMN044 Human Immunodeficiency Virus Type 1 78 21.866
85
P HPT023 Hepatocellular Carcinoma 96 21.798
86
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 21.600
87
OST012 Osteoarthritis 77 21.559
88
IRN002 Iron Metabolism Disease 57 21.503
89
TRM010 Traumatic Brain Injury 51 21.485
90
PHN003 Phenylketonuria 76 21.290
91
P LKM002 Leukemia 67 21.197
92
P PNC035 Pancreatic Cancer 86 21.184
93
ATH013 Atherosclerosis Susceptibility 63 21.162
94
P KDN018 Kidney Disease 72 21.148
95
c INH020 Inherited Metabolic Disorder 48 21.108
96
P DRR001 Diarrhea 55 21.051
97
PPT005 Peptic Ulcer Disease 58 21.022
98
ULC004 Ulcerative Colitis 74 20.836
99
P HPT021 Hepatitis 69 20.827
100
P GCH001 Gaucher's Disease 70 20.772
101
P CHL066 Cholangitis 52 20.754
102
P GST044 Gastritis 55 20.655
103
CYS001 Cystic Fibrosis 78 20.524
104
ARG002 Argininosuccinic Aciduria 61 20.437
105
c ACT027 Acute Pancreatitis 60 20.347
106
PRT037 Pertussis 65 20.276
107
P INF038 Influenza 68 20.162
108
ORG002 Organic Acidemia 44 20.101
109
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 20.101
110
P INF037 Inflammatory Bowel Disease 53 20.079
111
c PRC016 Pre-Eclampsia 65 20.001
112
P EPL164 Epilepsy 68 19.902
113
CTR172 Citrullinemia, Classic 65 19.841
114
P ALZ034 Alzheimer Disease 87 19.722
115
P MYC084 Mycobacterium Tuberculosis 1 68 19.715
116
CYT002 Cytokine Deficiency 43 19.539
117
P NRP001 Neuropathy 60 19.521
118
TXC005 Toxic Shock Syndrome 62 19.438
119
PHS025 Phosphatase, Acid, of Tissues 28 19.374
120
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 65 19.371
121
ANX004 Anoxia 40 19.281
122
P HNT016 Huntington Disease 73 19.260
123
ALL029 Allergic Disease 59 19.072
124
OCL069 Ocular Motor Apraxia 57 18.922
125
P PNC044 Pancreatitis 61 18.893
126
47X002 47,xyy 48 18.780
127
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 18.597
128
LPP008 Lipoprotein Quantitative Trait Locus 65 18.561
129
P OST002 Osteoporosis 76 18.561
130
P HYP265 Hypotonia 42 18.558
131
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 18.529
132
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 18.529
133
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 80 18.370
134
HMC014 Homocysteinemia 52 18.356
135
PPL052 Papillomatosis, Confluent and Reticulated 34 18.310
136
P PRD008 Periodontitis 64 18.274
137
GLC003 Glucose Intolerance 54 18.267
138
IMM167 Immune Deficiency Disease 78 18.095
139
SLR001 Sialuria 48 18.083
140
P LNG032 Lung Cancer 98 18.054
141
P VSC007 Vascular Disease 63 18.022
142
c TYP008 Type 1 Diabetes Mellitus 70 17.975
143
P ADN016 Adenocarcinoma 63 17.927
144
c HPT073 Hepatitis C Virus 71 17.915
145
HPT004 Hepatic Coma 43 17.906
146
c ACT071 Acute Kidney Failure 60 17.897
147
OST159 Osteogenic Sarcoma 66 17.745
148
CRH001 Crohn's Disease 80 17.718
149
c LKM061 Leukemia, Acute Myeloid 83 17.627
150
P HRP006 Herpes Simplex 65 17.556
151
P PSR002 Psoriasis 63 17.547
152
ADR007 Adrenoleukodystrophy 73 17.500
153
P BPL003 Bipolar Disorder 56 17.442
154
HPT019 Hepatic Encephalopathy 59 17.414
155
P GST053 Gastric Cancer 83 17.408
156
ALC007 Alcohol Dependence 66 17.393
157
c HYP595 Hypertension, Essential 85 17.365
158
c MJR022 Major Affective Disorder 8 38 17.343
159
c MJR024 Major Affective Disorder 9 41 17.343
160
c AMY091 Amyotrophic Lateral Sclerosis 1 88 17.343
161
P OVR042 Ovarian Cancer 88 17.301
162
P HRT032 Heart Disease 81 17.261
163
c GCH015 Gaucher Disease, Type I 68 17.179
164
NPH009 Nephrolithiasis 54 17.142
165
ART140 Arteries, Anomalies of 53 17.088
166
TRC120 Tricarboxylic Acid Cycle, Defect of 16 17.073
167
P LTR001 Lateral Sclerosis 58 17.063
168
STT001 Status Epilepticus 59 17.014
169
c MCR120 Microvascular Complications of Diabetes 7 47 17.001
170
c HPT001 Hepatitis C 62 16.956
171
PRT036 Peritonitis 65 16.868
172
c MCR113 Microvascular Complications of Diabetes 3 52 16.866
173
PST011 Pustulosis of Palm and Sole 52 16.818
174
P ART022 Arthritis 71 16.768
175
c MCR133 Microvascular Complications of Diabetes 4 41 16.689
176
c MCR130 Microvascular Complications of Diabetes 6 41 16.684
177
ATM095 Autoimmune Disease 61 16.577
178
c HPT016 Hepatitis B 62 16.564
179
URM002 Uremia 47 16.552
180
CRB004 Cerebral Artery Occlusion 45 16.521
181
PRT251 Proteinuria, Chronic Benign 57 16.506
182
GST023 Gastric Ulcer 52 16.500
183
P PRP019 Peripheral Nervous System Disease 58 16.483
184
KRT002 Keratomalacia 55 16.436
185
P MLN008 Melanoma 76 16.390
186
CHL014 Cholera 62 16.384
187
HRW001 Hair Whorl 35 16.380
188
INS024 Insulin-Like Growth Factor I 78 16.306
189
P MYL006 Myeloid Leukemia 61 16.226
190
ADN018 Adenoma 59 16.197
191
P MYC007 Myocardial Infarction 70 16.164
192
DRM006 Dermatitis 62 16.131
193
STR067 Stroke, Ischemic 80 16.040
194
P ATS364 Autism 69 16.016
195
P URN019 Urinary Tract Infection 49 16.003
196
PLM001 Pulmonary Tuberculosis 69 15.989
197
HMP009 Haemophilus Influenzae 41 15.957
198
MYL069 Myeloma, Multiple 77 15.895
199
RNL114 Renal Cell Carcinoma, Nonpapillary 80 15.880
200
P SCH015 Schizophrenia 74 15.871
201
P GLM040 Glioma Susceptibility 1 71 15.859
202
DPR016 Depression 65 15.814
203
c TYR011 Tyrosinemia, Type Iii 41 15.772
204
P BLD134 Bladder Cancer 79 15.740
205
SKN016 Skin Disease 63 15.615
206
BCT022 Bacterial Infectious Disease 56 15.612
207
c HYP794 Hyperoxaluria, Primary, Type I 63 15.539
208
P BND020 Bone Disease 59 15.527
209
c ATS007 Autism Spectrum Disorder 72 15.499
210
P ADL010 Adult Respiratory Distress Syndrome 71 15.470
211
DNT012 Dental Caries 53 15.463
212
SPN186 Spinal Cord Injury 61 15.460
213
END086 End Stage Renal Disease 52 15.445
214
BRR014 Barrett Esophagus 66 15.373
215
URL001 Urolithiasis 46 15.357
216
P MSC005 Muscular Dystrophy 67 15.352
217
P GLY013 Glycogen Storage Disease 60 15.334
218
P BCL017 B-Cell Lymphoma 59 15.316
219
c ACT068 Acute Cystitis 61 15.308
220
CRV035 Cervical Cancer 73 15.226
221
MNT002 Mental Depression 57 15.082
222
P HYP086 Hypothyroidism 69 15.062
223
ATS010 Autosomal Recessive Disease 42 15.045
224
P DRM053 Dermatitis, Atopic 65 15.040
225
ADR022 Adrenomyeloneuropathy 39 15.029
226
CHL123 Chlamydia 58 14.967
227
STM007 Stomatitis 54 14.896
228
GYR004 Gyrate Atrophy of Choroid and Retina 58 14.869
229
MLR004 Malaria 80 14.849
230
c SML038 Small Cell Cancer of the Lung 69 14.821
231
PLM129 Pulmonary Disease, Chronic Obstructive 74 14.803
232
P SLL003 Salla Disease 45 14.780
234
c ATR087 Atrial Standstill 1 74 14.768
235
INS001 Insulinoma 59 14.594
236
P RHM011 Rheumatoid Arthritis 82 14.592
237
P SCL009 Sclerosing Cholangitis 48 14.564
238
CNG034 Congestive Heart Failure 69 14.519
239
HMS001 Hemosiderosis 48 14.511
240
P CTR002 Cataract 60 14.481
241
SQM006 Squamous Cell Carcinoma 60 14.471
242
SVR001 Severe Acute Respiratory Syndrome 67 14.438
243
P THL005 Thalassemia 56 14.436
244
HGH043 High Grade Glioma 45 14.317
245
P OVR082 Overgrowth Syndrome 49 14.308
246
3HY010 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 34 14.259
247
URT049 Urate Oxidase, Pseudogene 24 14.190
248
P INF032 Infertility 57 14.106
249
c DNT047 Dentinogenesis Imperfecta Type 2 35 14.050
250
P HYP076 Hyperthyroidism 53 14.027
251
c HPT003 Hepatitis a 63 13.980
252
DWN001 Down Syndrome 70 13.927
253
P MSC003 Muscular Atrophy 52 13.894
254
c MCR115 Microvascular Complications of Diabetes 5 65 13.890
255
P AST005 Asthma 76 13.885
256
c CHL119 Cholangitis, Primary Sclerosing 58 13.860
257
KRT009 Keratosis 53 13.852
258
P PLY019 Polyneuropathy 52 13.830
259
P RRH023 Rare Hereditary Hemochromatosis 54 13.820
260
P ALC033 Alcohol Use Disorder 61 13.819
261
RCK004 Rickets 68 13.779
262
c PCH010 Pachyonychia Congenita 3 43 13.774
263
VTM002 Vitamin B12 Deficiency 48 13.677
264
AMN012 Aminoacidopathies 20 13.663
265
c ACT134 Acute Liver Failure 59 13.581
266
P TRM003 Tremor 48 13.570
267
ESP021 Esophageal Cancer 83 13.554
268
P MJR001 Major Depressive Disorder 68 13.546
269
c DWL002 Dowling-Degos Disease 1 58 13.543
270
CRB039 Cerebrovascular Disease 66 13.518
271
P PRK039 Parkinsonism 55 13.479
272
HLC007 Helicobacter Pylori Infection 67 13.476
273
EMB004 Embryonal Carcinoma 56 13.461
274
P RSP003 Respiratory Failure 74 13.455
275
c MGR028 Migraine with or Without Aura 1 64 13.435
276
VCC001 Vaccinia 47 13.418
277
P CRD119 Cardiac Arrest 67 13.375
278
MTH071 Methane Production 25 13.371
279
P INT099 Intrahepatic Cholestasis of Pregnancy 62 13.331
280
P MTC069 Mitochondrial Disorders 57 13.306
281
GST045 Gastroenteritis 58 13.301
282
LNG099 Lung Disease 62 13.266
283
MLG169 Malignant Astrocytoma 57 13.263
284
CHL004 Cholelithiasis 49 13.245
285
DSS032 Disease by Infectious Agent 55 13.233
286
GST033 Gestational Diabetes 61 13.214
287
LGH007 Leigh Syndrome 70 13.203
288
P MLT020 Multiple Sclerosis 79 13.162
289
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 13.158
290
BRN024 Bronchitis 67 13.109
291
P ECL001 Eclampsia 52 13.025
292
SRC014 Sarcoma 65 13.022
293
CYS013 Cystinuria 66 13.012
294
SPN035 Spindle Cell Sarcoma 54 12.976
295
c ACT075 Acute Myocardial Infarction 56 12.958
296
P LNG064 Lung Cancer Susceptibility 3 70 12.925
297
BLR008 Bilirubin Metabolic Disorder 57 12.919
298
HYP005 Hypokalemia 55 12.884
299
NPH091 Nephrolithiasis, Calcium Oxalate 61 12.850
300
P LPS004 Lupus Erythematosus 61 12.810
301
P PLM037 Pulmonary Hypertension 72 12.806
302
LPC004 Lipoic Acid Biosynthesis Defects 10 12.784
303
PRP001 Propionic Acidemia 65 12.775
304
P PHC003 Pheochromocytoma 69 12.742
305
c SYS001 Systemic Lupus Erythematosus 87 12.718
306
P RTN024 Retinoblastoma 73 12.657
307
ADR040 Adrenal Gland Pheochromocytoma 46 12.636
308
ALL014 Allergic Encephalomyelitis 34 12.606
309
BRN004 Brain Edema 54 12.573
310
MYL009 Myelodysplastic Syndrome 67 12.563
311
PST092 Posttransplant Acute Limbic Encephalitis 28 12.549
312
CLN015 Colon Adenocarcinoma 65 12.540
313
P SKN015 Skin Carcinoma 71 12.536
314
P DYS154 Dystonia 64 12.521
315
ACQ007 Acquired Immunodeficiency Syndrome 59 12.518
316
THY029 Thyroid Carcinoma 51 12.489
317
c FTL070 Fetal Akinesia Deformation Sequence 2 36 12.471
318
P GLM007 Glomerulonephritis 60 12.448
319
P ENC004 Encephalitis 61 12.434
320
CHL065 Cholangiocarcinoma 58 12.416
321
MDD011 Mood Disorder 62 12.399
322
INT079 Intrahepatic Cholangiocarcinoma 51 12.370
323
P THR014 Thrombocytopenia 66 12.349
324
CNS004 Constipation 56 12.304
325
PRP027 Peripheral Vascular Disease 71 12.265
326
NRR001 Neuroretinitis 42 12.257
327
P ZLL001 Zellweger Syndrome 65 12.256
328
RTN023 Retinitis 46 12.254
329
DBT010 Diabetic Neuropathy 54 12.253
330
TTN003 Tetanus 65 12.200
331
IRR002 Irritable Bowel Syndrome 65 12.193
332
P LKM062 Leukemia, Acute Lymphoblastic 69 12.171
333
FLT009 Folate Malabsorption, Hereditary 49 12.160
334
P ART021 Arteriosclerosis 54 12.123
335
c DLT002 Dilated Cardiomyopathy 78 12.063
336
HNS001 Hansen's Disease 32 12.003
337
P EXN002 Exanthem 58 11.988
338
P PLY011 Polycystic Ovary Syndrome 57 11.974
339
c VRL010 Viral Hepatitis 53 11.969
340
P LPR021 Leprosy 3 71 11.960
341
P RHN004 Rhinitis 57 11.938
342
AVN001 Avian Influenza 61 11.923
343
CRD132 Cardiac Conduction Defect 60 11.914
344
P BRS044 Breast Adenocarcinoma 58 11.903
345
P LYM118 Lymphoma 67 11.826
346
c ACT073 Acute Leukemia 58 11.825
347
P MTH008 Methylmalonic Acidemia 52 11.810
348
P NTR004 Neutropenia 63 11.791
349
SVR004 Severe Combined Immunodeficiency 72 11.760
350
P AMY004 Amyloidosis 70 11.738
351
P SCK005 Sickle Cell Disease 56 11.732
352
OST003 Osteonecrosis 61 11.730
353
PRS047 Prostatitis 58 11.673
354
PLM010 Pulmonary Edema 55 11.608
355
P CHR345 Chronic Pain 50 11.584
356
ACT098 Acute Erythroid Leukemia 55 11.523
357
PRX001 Peroxisomal Disease 46 11.497
358
P PNM007 Pneumonia 67 11.488
359
P ATT013 Attention Deficit-Hyperactivity Disorder 64 11.485
360
IRN001 Iron Deficiency Anemia 58 11.451
361
BTM003 Beta-Aminoisobutyric Aciduria 19 11.450
362
ANG054 Angina Pectoris 66 11.428
363
P NSP012 Nasopharyngeal Carcinoma 61 11.422
364
P FRG001 Fragile X Syndrome 70 11.402
365
MST005 Mastitis 53 11.378
366
P NPH012 Nephrotic Syndrome 60 11.374
367
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 63 11.358
368
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 11.356
369
P BRB001 Beriberi 44 11.352
370
P RNL007 Renal Tubular Acidosis 50 11.336
371
PNC041 Pancreatic Ductal Adenocarcinoma 51 11.311
372
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 67 11.267
373
HDN002 Head Injury 44 11.259
374
P PLM036 Pulmonary Fibrosis 66 11.252
375
P RTN008 Retinitis Pigmentosa 80 11.239
376
P FBR017 Fibrosarcoma 56 11.235
377
MTC005 Mitochondrial Metabolism Disease 45 11.211
378
P PRP029 Porphyria 60 11.207
379
P SPP010 Suppressor of Tumorigenicity 3 51 11.206
380
URC002 Urea Cycle Disorder 51 11.178
381
BRN028 Brain Cancer 74 11.177
382
c PLM164 Pulmonary Hypertension, Primary, 1 76 11.163
383
P MTC133 Mitochondrial Myopathy 50 11.141
384
THR024 Thrombosis 56 11.126
385
KRN002 Kearns-Sayre Syndrome 63 11.113
386
DBT084 Diabetes Mellitus, Ketosis-Prone 60 11.062
387
P RTN016 Retinal Degeneration 52 11.057
388
P EYD002 Eye Disease 57 11.049
389
P ATR011 Atrial Fibrillation 66 11.041
390
P PRK057 Parkinson Disease, Late-Onset 80 11.009
391
P TMP001 Temporal Lobe Epilepsy 49 11.003
392
CLF027 Cleft Palate, Isolated 64 10.994
393
P DMN002 Dementia 66 10.990
394
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 50 10.931
395
PPL022 Papilloma 53 10.929
396
CRB011 Cerebrotendinous Xanthomatosis 65 10.900
397
SCK003 Sickle Cell Anemia 74 10.852
398
P KDN017 Kidney Cancer 61 10.831
399
SPL018 Splenomegaly 49 10.818
400
P MNN013 Meningitis 65 10.776
401
P OBS001 Obstructive Jaundice 48 10.738
402
P KLZ004 Kala-Azar 1 41 10.715
403
LSH001 Leishmaniasis 64 10.715
404
ORL011 Oral Cancer 60 10.666
405
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 10.645
406
DPH001 Diphtheria 59 10.600
407
P LKM071 Leukemia, Chronic Lymphocytic 75 10.599
408
PLY150 Polykaryocytosis Inducer 29 10.593
409
P ART023 Arthropathy 61 10.560
410
P CRD246 Cardiovascular System Disease 56 10.542
411
P HYP098 Hypereosinophilic Syndrome 66 10.536
412
SQM002 Squamous Cell Papilloma 46 10.535
413
RYS001 Reye Syndrome 49 10.505
414
P ALP008 Alopecia 54 10.500
415
PRS045 Prostatic Hypertrophy 53 10.488
416
P MCR010 Microcephaly 60 10.483
417
MSC157 Muscular Dystrophy, Duchenne Type 79 10.460
418
CLR108 Colorectal Adenoma 64 10.434
419
P CND004 Candidiasis 58 10.406
420
GST050 Gastrointestinal System Disease 55 10.403
421
NWC001 Newcastle Disease 47 10.392
422
PLM033 Pulmonary Embolism 58 10.386
423
c LKM063 Leukemia, Chronic Myeloid 71 10.309
424
MCS002 Mucositis 56 10.305
425
PYR043 Pyruvate Metabolism Disorder 4 10.303
426
DYS073 Dysphagia 53 10.279
427
P CYS018 Cystitis 59 10.246
428
CND006 Candida Glabrata 30 10.240
429
ARG004 Argyria 26 10.227
430
NTR005 Nutritional Deficiency Disease 61 10.195
431
c BTT014 Beta-Thalassemia 72 10.179
432
ACY011 Acyl-Coa Dehydrogenase Deficiency 30 10.150
433
END057 Endometrial Cancer 72 10.088
434
ORL015 Oral Squamous Cell Carcinoma 43 10.084
435
P MLN007 Male Infertility 56 10.056
436
TRT001 Teratocarcinoma 42 10.017
437
P NMN002 Niemann-Pick Disease 60 9.982
438
ALL003 Allergic Rhinitis 67 9.972
439
XNT003 Xanthomatosis 49 9.949
440
CHG001 Chagas Disease 66 9.948
441
c ATM011 Autoimmune Hepatitis 63 9.937
442
P HDC001 Headache 57 9.821
443
P SYS005 Systemic Scleroderma 74 9.804
444
c BRN108 Branchiootic Syndrome 1 62 9.779
445
LPT014 Leptin Deficiency or Dysfunction 78 9.716
446
PRS021 Prostatic Adenoma 43 9.715
447
P DNG005 Dengue Virus 56 9.695
448
PRP030 Purpura 54 9.691
449
P TYR004 Tyrosinemia 50 9.675
450
MSC007 Muscle Hypertrophy 64 9.662
451
CVD001 Covid-19 57 9.650
452
BRK010 Burkitt Lymphoma 66 9.635
453
TRN015 Transient Cerebral Ischemia 63 9.621
454
BTN004 Biotin Deficiency 45 9.606
455
ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 59 9.568
456
P HMC002 Homocystinuria 53 9.524
457
PNG002 Pain Agnosia 51 9.504
458
RNL077 Renal Fibrosis 46 9.501
459
CRV045 Cervical Intraepithelial Neoplasia 39 9.421
460
CRV002 Cervix Uteri Carcinoma in Situ 47 9.418
461
P ACT008 Actinic Keratosis 54 9.416
462
CNT047 Contact Dermatitis 57 9.414
463
INT323 Intraocular Pressure Quantitative Trait Locus 64 9.403
464
ENT011 Enterocolitis 55 9.400
465
GST040 Gastric Adenocarcinoma 67 9.378
466
P INT068 Intestinal Disease 53 9.337
467
PRS129 Prostatic Hyperplasia, Benign 49 9.334
468
P HYP061 Hypertrophic Cardiomyopathy 69 9.328
469
P CNJ013 Conjunctivitis 66 9.294
470
P HYD006 Hydrocephalus 61 9.270
471
MSL001 Measles 61 9.268
472
ENT004 Enthesopathy 51 9.261
473
P BNG032 Benign Mesothelioma 53 9.240
474
c SCL052 Scleroderma, Familial Progressive 61 9.233
475
GNG013 Gingivitis 59 9.224
476
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 66 9.221
477
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 9.214
478
MLD018 Mild Cognitive Impairment 48 9.199
479
OTT002 Otitis Media 71 9.194
480
P ANP001 Anaplastic Large Cell Lymphoma 61 9.174
481
c FML021 Familial Hypercholesterolemia 72 9.172
482
P GRF003 Graft-Versus-Host Disease 71 9.165
483
P MYC008 Myocarditis 59 9.125
484
LYS002 Lysosomal Storage Disease 51 9.125
485
FLN005 Folinic Acid-Responsive Seizures 11 9.092
486
P END044 Endometriosis 62 9.007
487
P RCT021 Rectum Cancer 54 9.001
488
P MYC033 Myoclonus 47 8.997
489
ANX010 Anxiety 70 8.995
490
CHC001 Chickenpox 57 8.994
491
ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 64 8.950
492
PNC129 Pancreatic Adenocarcinoma 65 8.949
493
MNN043 Meningioma, Familial 79 8.948
494
P FML011 Familial Adenomatous Polyposis 71 8.907
495
P PLY014 Polycystic Kidney Disease 69 8.882
496
SCH014 Schistosomiasis 56 8.880
497
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 38 8.874
498
P SHR001 Short Bowel Syndrome 53 8.866
499
P URT039 Urticaria 58 8.862
500
HYP141 Hyperphenylalaninemia 42 8.849
501
CRB037 Cerebral Palsy 67 8.848
502
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 8.847
503
BLR001 Biliary Atresia 55 8.819
504
INT007 Intermediate Coronary Syndrome 54 8.769
505
ADL002 Adult Syndrome 70 8.766
506
SCR001 Secretory Meningioma 40 8.765
507
LYM002 Lymphoplasmacyte-Rich Meningioma 35 8.765
508
SPN021 Spinal Meningioma 50 8.765
509
FDL002 Food Allergy 47 8.764
510
DYS015 Dysentery 50 8.758
511
TLN003 Telangiectasis 51 8.756
512
ISL099 Isolated Methylmalonic Acidemia 36 8.741
513
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 65 8.715
514
SPS057 Spasticity 42 8.689
515
P MDL005 Medulloblastoma 75 8.680
516
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 59 8.661
517
P CLC063 Celiac Disease 1 66 8.592
518
CRT015 Carotid Artery Occlusion 45 8.584
519
P INS002 in Situ Carcinoma 53 8.584
520
MST004 Mast Cell Neoplasm 42 8.547
521
P RTN018 Retinal Disease 53 8.534
522
EXT007 Extracutaneous Mastocytoma 38 8.533
523
P PYL005 Pyelonephritis 57 8.529
524
TRN018 Transitional Cell Carcinoma 56 8.519
525
KPS004 Kaposi Sarcoma 77 8.503
526
P RHB003 Rhabdomyosarcoma 66 8.495
527
c HMC039 Hemochromatosis, Type 1 73 8.465
528
PRT013 Portal Hypertension 59 8.458
529
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 8.418
530
P MVM001 Movement Disease 61 8.398
531
WST001 West Syndrome 59 8.392
532
c PRD040 Periodontitis, Chronic 52 8.387
533
CHR074 Choriocarcinoma 46 8.379
534
P FNC004 Fanconi Syndrome 60 8.367
535
DSS009 Disseminated Intravascular Coagulation 57 8.364
536
P ANR048 Aniridia 1 64 8.327
537
GTR002 Goiter 53 8.278
538
c ATS307 Autosomal Recessive Cerebellar Ataxia 39 8.274
539
P THY032 Thyroiditis 57 8.220
540
PRN019 Perinatal Necrotizing Enterocolitis 60 8.199
541
AMN006 Aminoaciduria 37 8.195
542
SLP001 Sleeping Sickness 56 8.148
543
INT075 Intracranial Hypertension 53 8.115
544
c BSL007 Basal Cell Carcinoma 68 8.097
545
ART016 Aortic Aneurysm 68 8.082
546
P PRN023 Prion Disease 60 8.073
547
SBC016 Subacute Delirium 43 8.059
548
P END033 Endocarditis 58 8.054
549
HMG005 Hemoglobinopathy 56 8.046
550
LYM019 Lymphosarcoma 46 8.036
551
VSC002 Vascular Dementia 60 8.028
552
P SRC025 Sarcoidosis 1 71 7.991
553
P TXP001 Toxoplasmosis 60 7.984
554
P CHR071 Charcot-Marie-Tooth Disease 64 7.950
555
SCR011 Scrapie 39 7.942
556
MMM001 Mammary Paget's Disease 53 7.933
557
CLR109 Colorectal Adenocarcinoma 50 7.904
558
P UVT001 Uveitis 57 7.876
559
ANT024 Anthrax Disease 58 7.866
561
NNT017 Neonatal Adrenoleukodystrophy 54 7.847
562
GLT035 Glutaric Acidemia I 57 7.842
563
ANT039 Antisynthetase Syndrome 55 7.808
564
P OPT006 Optic Nerve Disease 58 7.807
565
OST017 Osteomyelitis 63 7.797
566
CRH005 Crohn's Colitis 53 7.788
567
MGL001 Megaloblastic Anemia 58 7.762
568
P SCL018 Scoliosis 57 7.760
569
PLC008 Placenta Disease 49 7.748
570
PRP016 Paraplegia 52 7.735
571
ANR040 Aneurysm 61 7.731
572
SQM013 Squamous Cell Carcinoma, Head and Neck 73 7.727
573
PRT038 Protein-Energy Malnutrition 53 7.724
574
LYM133 Lymphoma, Hodgkin, Classic 74 7.720
575
FBR047 Fibromyalgia 58 7.716
576
PRN011 Pernicious Anemia 53 7.708
577
PNC001 Pancytopenia 53 7.701
578
TTH006 Tooth Disease 51 7.698
579
TYP007 Typhoid Fever 64 7.692
580
P SLP006 Sleep Apnea 69 7.691
581
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 7.680
582
INT002 Intermittent Claudication 61 7.662
583
VGN023 Vaginitis 56 7.661
584
CHR066 Chronic Fatigue Syndrome 60 7.660
585
c HNT011 Huntington Disease-Like 3 34 7.645
586
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 7.600
587
RHB024 Rhabdomyosarcoma 2 67 7.595
588
P RTT002 Rett Syndrome 79 7.590
589
TRY001 Trypanosomiasis 50 7.582
590
CYS010 Cystinosis 62 7.570
591
NRM005 Neuromuscular Disease 63 7.566
592
P LKD001 Leukodystrophy 59 7.554
593
IGG001 Iga Glomerulonephritis 50 7.550
594
P PLY018 Polycythemia 56 7.549
595
PSY004 Psychotic Disorder 66 7.529
596
YLL002 Yellow Fever 61 7.520
597
ALL006 Allergic Asthma 56 7.505
598
PRP083 Porphyria, Acute Intermittent 65 7.505
599
ALC006 Alcoholic Hepatitis 61 7.473
600
c SCN036 Secondary Progressive Multiple Sclerosis 55 7.464
601
PLC002 Plica Syndrome 35 7.457
602
SYN007 Synovitis 55 7.457
603
LWC002 Lowe Oculocerebrorenal Syndrome 68 7.429
604
VRC005 Varicose Veins 60 7.427
605
PHR003 Pharyngitis 58 7.407
606
PTT037 Pituitary Tumors 44 7.394
607
P FTL001 Fetal Alcohol Syndrome 55 7.360
608
HMN047 Human Cytomegalovirus Infection 57 7.356
609
ANR007 Anorexia Nervosa 60 7.345
610
P VSC011 Vasculitis 61 7.340
611
MTC004 Mitochondrial Encephalomyopathy 42 7.334
612
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 7.333
613
HPT022 Hepatoblastoma 54 7.319
614
P TBR001 Tuberous Sclerosis 69 7.309
615
DWR001 Dwarfism 44 7.303
616
BRC012 Brucellosis 66 7.281
617
HYP017 Hypophosphatemia 49 7.277
618
OVR094 Ovarian Epithelial Cancer 39 7.246
619
THY030 Thyroid Gland Disease 50 7.227
620
c CNG027 Congenital Hemolytic Anemia 48 7.227
621
CHL067 Cholecystitis 60 7.226
622
c BCT007 Bacterial Meningitis 55 7.222
623
NNT012 Neonatal Jaundice 53 7.212
624
END040 Endogenous Depression 55 7.192
625
DBT004 Diabetic Polyneuropathy 50 7.160
626
EXT006 Extrahepatic Cholestasis 40 7.156
627
GLC009 Glucosephosphate Dehydrogenase Deficiency 53 7.127
628
c PNS012 Paine Syndrome 60 7.074
629
SFT003 Soft Tissue Sarcoma 57 7.073
630
PLM134 Pulmonary Fibrosis, Idiopathic 76 7.072
631
ILS001 Ileus 50 7.069
632
CRB090 Cerebral Hypoxia 42 7.060
633
PLG002 Plague 58 7.057
634
PRP080 Peripheral Artery Disease 54 7.047
635
SPP011 Suppression of Tumorigenicity 12 61 7.011
636
c BLD140 Blood Group, I System 46 7.009
637
P SPN046 Spinal Muscular Atrophy 63 7.002
638
ETN001 Eating Disorder 59 7.000
639
NRN004 Neuroendocrine Tumor 59 7.000
640
MCR013 Microphthalmia 60 6.978
641
KWS001 Kwashiorkor 45 6.955
642
P PRM002 Primary Hyperoxaluria 65 6.939
643
ALL010 Allergic Contact Dermatitis 56 6.931
644
CNG017 Congenital Nonspherocytic Hemolytic Anemia 33 6.929
645
PTH003 Pathologic Nystagmus 52 6.926
646
KRT019 Keratitis, Hereditary 66 6.913
647
P MYS005 Myositis 56 6.913
648
P SNS001 Sensorineural Hearing Loss 59 6.898
649
WTH001 Withdrawal Disorder 48 6.896
650
SKN019 Skin Melanoma 71 6.893
651
DMY004 Demyelinating Disease 50 6.890
652
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 39 6.890
653
CHR073 Choreatic Disease 54 6.890
654
LYM143 Lymphoma, Non-Hodgkin, Familial 75 6.883
655
CRC021 Carcinosarcoma 64 6.882
656
URT010 Ureteral Obstruction 45 6.873
657
P MCR129 Microvascular Complications of Diabetes 1 68 6.870
658
P OPN001 Open-Angle Glaucoma 55 6.850
659
FML035 Familial Hyperlipidemia 55 6.842
660
CLF001 Cleft Lip 53 6.836
661
P INT143 Interstitial Cystitis 60 6.818
662
HYP080 Hypogonadism 50 6.795
663
P PTS002 Ptosis 52 6.785
664
MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 34 6.774
665
CNN005 Connective Tissue Disease 67 6.772
666
AMN003 Amnestic Disorder 54 6.768
667
P HRD011 Hereditary Spherocytosis 64 6.737
668
LMY002 Leiomyoma 51 6.701
669
P SBS003 Substance Abuse 54 6.670
670
RLP002 Relapsing-Remitting Multiple Sclerosis 56 6.655
671
P CTR177 Citrullinemia, Type Ii, Adult-Onset 55 6.645
672
c ART138 Aortic Aneurysm, Familial Abdominal, 1 61 6.637
673
ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 55 6.613
674
CHR178 Chromosomal Triplication 34 6.612
675
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 6.609
676
PLC005 Placental Insufficiency 56 6.599
677
TBR011 Tuberculous Meningitis 48 6.598
678
P MTR014 Motor Neuron Disease 65 6.593
679
STN013 Stenotrophomonas Maltophilia Infection 26 6.593
680
CHR100 Chronic Ulcer of Skin 57 6.583
681
CLR030 Clear Cell Renal Cell Carcinoma 54 6.575
682
P MNC007 Monocytic Leukemia 47 6.571
683
SPN051 Spondylitis 51 6.570
684
INF009 Inflammatory Spondylopathy 30 6.570
685
c GRV008 Graves Disease 1 54 6.565
686
TRG019 Trigonocephaly with Short Stature and Developmental Delay 38 6.554
687
CMB007 Combined Immunodeficiency 57 6.543
688
CRC006 Carcinoid Syndrome 55 6.540
689
PLS011 Plasmacytoma 56 6.539
690
CRD137 Cardiogenic Shock 56 6.515
691
HYD002 Hydronephrosis 58 6.505
692
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 26 6.497
693
c MTR018 Maturity-Onset Diabetes of the Young, Type 1 63 6.494
694
P GRV001 Graves' Disease 55 6.489
695
VSC003 Visceral Leishmaniasis 55 6.444
696
PST028 Post-Traumatic Stress Disorder 59 6.444
697
MYL005 Myelofibrosis 71 6.438
698
P BNC003 Bone Cancer 58 6.434
699
c PRG047 Progressive Familial Intrahepatic Cholestasis 64 6.432
700
P SLP005 Sleep Disorder 61 6.423
701
P GLL022 Guillain-Barre Syndrome 60 6.413
702
c EXD008 Exudative Vitreoretinopathy 1 71 6.403
703
VLV047 Volvulus of Midgut 52 6.401
704
c MST023 Mesothelioma, Malignant 56 6.396
705
P CHN012 Chondrosarcoma 57 6.384
706
P FRD001 Friedreich Ataxia 61 6.383
708
RTN017 Retinal Detachment 60 6.355
709
c TBR025 Tuberous Sclerosis 1 84 6.350
710
MLT157 Multiple System Atrophy 1 69 6.345
711
VRL011 Viral Infectious Disease 61 6.344
712
VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 6.334
713
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 6.334
714
DFF005 Diffuse Large B-Cell Lymphoma 54 6.333
715
P NRV007 Nervous System Disease 67 6.307
716
c 3MT015 3-Methylglutaconic Aciduria, Type I 51 6.287
717
c SVR005 Severe Pre-Eclampsia 50 6.286
718
P TRT010 Teratoma 51 6.275
719
MTC023 Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 44 6.245
720
PYR009 Pyridoxine Deficiency Anemia 35 6.238
721
PLM031 Poliomyelitis 63 6.237
722
c PRS136 Prostate Cancer, Hereditary, 6 33 6.234
723
c PRS130 Prostate Cancer, Hereditary, 8 32 6.234
724
ARG007 Argininemia 58 6.220
725
IMP005 Impotence 52 6.214
726
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 62 6.213
727
P CRV039 Cervicitis 52 6.198
728
P SYP003 Syphilis 59 6.188
729
c TYR012 Tyrosinemia, Type I 61 6.183
730
BTN003 Biotinidase Deficiency 62 6.180
731
P CNR004 Cone-Rod Dystrophy 2 74 6.177
732
P PLL002 Pellagra 46 6.166
733
P NRF002 Neurofibromatosis 57 6.153
734
c 2HY001 2-Hydroxyglutaric Aciduria 38 6.136
735
P ANG015 Angioedema 56 6.131
736
BRS051 Breast Disease 58 6.127
737
PLS007 Plasmodium Falciparum Malaria 52 6.097
738
P CRB088 Cerebral Atrophy 33 6.093
739
LKP003 Leukoplakia 39 6.070
740
THR004 Thrombocytosis 53 6.067
741
P FBR031 Febrile Seizures 52 6.047
742
c SPN225 Spondyloarthropathy 1 70 6.040
743
c THY109 Thyroid Cancer, Nonmedullary, 1 55 6.040
744
AZS001 Azoospermia 45 6.022
745
GLY010 Glycine Encephalopathy 57 6.016
746
P GLC113 Galactosemia I 66 6.001
747
HYP690 Hyper-Beta-Alaninemia 24 5.993
748
P FML355 Familial Intrahepatic Cholestasis 42 5.990
749
OCH001 Ochronosis 40 5.973
750
P CRB210 Cerebrofacial Arteriovenous Metameric Syndrome 27 5.972
751
P NRN021 Neuronal Ceroid Lipofuscinosis 65 5.971
752
SDD001 Sudden Infant Death Syndrome 60 5.942
753
P ASP006 Aspergillosis 72 5.939
754
FMR004 Fumarase Deficiency 50 5.938
755
NRT001 Neurotic Disorder 56 5.929
756
P LCH002 Lichen Planus 54 5.923
757
P SPR120 Supranuclear Palsy, Progressive, 1 69 5.919
758
P THY023 Thymoma 64 5.905
759
c THY107 Thymoma, Familial 42 5.900
760
P MYS003 Myasthenia Gravis 68 5.891
761
P PTT006 Pituitary Adenoma 55 5.880
762
LYM017 Lyme Disease 62 5.879
763
c HPT015 Hepatitis D 49 5.861
764
MLT018 Multiple Carboxylase Deficiency 45 5.850
765
ERL001 Early Myoclonic Encephalopathy 62 5.845
766
LYM027 Lymphopenia 56 5.845
767
ASP007 Aspiration Pneumonia 49 5.836
768
TNS005 Tonsillitis 57 5.828
769
BRT005 Barth Syndrome 56 5.808
770
P SJG008 Sjogren Syndrome 61 5.808
771
BCK006 Back Pain 47 5.807
772
LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 58 5.805
773
LPR001 Lepromatous Leprosy 49 5.805
774
FLR002 Filariasis 55 5.761
775
MCR017 Macrocytic Anemia 44 5.760
776
LNT004 Lentigines 46 5.759
777
ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 36 5.750
778
P RHZ001 Rhizomelic Chondrodysplasia Punctata 57 5.749
779
ALX003 Alexander Disease 61 5.715
780
P MLG056 Malignant Hyperthermia 66 5.709
781
CRN030 Coronary Stenosis 50 5.706
782
c MCR112 Microvascular Complications of Diabetes 2 42 5.705
783
P CHR012 Chronic Granulomatous Disease 69 5.702
784
HYP561 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness 27 5.701
785
INT066 Interstitial Lung Disease 60 5.695
786
P RBL001 Rubella 58 5.692
787
P APL001 Aplastic Anemia 73 5.691
788
LST001 Listeriosis 59 5.688
789
ACT003 Acute Kidney Tubular Necrosis 46 5.684
790
RTN020 Retinal Vascular Disease 46 5.663
791
BRN002 Bronchiolitis 57 5.662
792
LMB062 Limb Ischemia 55 5.652
793
ATN005 Autonomic Dysfunction 46 5.642
794
PLR008 Pleurisy 50 5.627
795
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 5.625
796
P MTH007 Methemoglobinemia 46 5.622
797
c HPT007 Hepatitis E 51 5.620
798
c L2H001 L-2-Hydroxyglutaric Aciduria 49 5.619
799
c NMN015 Niemann-Pick Disease, Type C1 68 5.615
800
RTN003 Retinal Ischemia 49 5.610
801
PRV004 Periventricular Leukomalacia 52 5.609
802
MNN009 Meningoencephalitis 48 5.601
803
ATN004 Autonomic Neuropathy 42 5.573
804
P GNG009 Gangliosidosis 44 5.567
805
INF034 Infective Endocarditis 54 5.562
806
TRD006 Tardive Dyskinesia 53 5.561
807
CNV004 Canavan Disease 62 5.545
808
CYN003 Cyanide Poisoning 22 5.540
809
DNG003 Dengue Disease 65 5.521
810
P ATX030 Ataxia-Telangiectasia 80 5.520
811
P MYG005 Myoglobinuria 40 5.518
812
P SBR004 Seborrheic Dermatitis 44 5.512
813
HPT014 Hepatorenal Syndrome 49 5.507
814
c ALP101 Alpha-Thalassemia 62 5.505
815
PLY001 Polycythemia Vera 69 5.505
816
EPL050 Epilepsy, Partial, with Pericentral Spikes 26 5.491
817
LPD009 Lipid Storage Disease 45 5.460
818
P PLY041 Polymyositis 59 5.453
819
OVR063 Overnutrition 42 5.451
820
CRD223 Cardiac Arrhythmia 63 5.450
821
c ACT004 Acute Diarrhea 40 5.449
822
c 3MT007 3-Methylglutaconic Aciduria 37 5.432
823
P MLT074 Multiple Endocrine Neoplasia 59 5.431
824
CYN002 Cyanosis, Transient Neonatal 43 5.429
825
c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 52 5.418
826
P CHN044 Chondrodysplasia Punctata Syndrome 43 5.418
827
c ACT135 Acute Graft Versus Host Disease 51 5.414
828
CHK001 Chikungunya 60 5.405
829
HMP005 Hemiplegia 54 5.393
830
BLD131 Bladder Urothelial Carcinoma 60 5.393
831
HLC001 Holocarboxylase Synthetase Deficiency 48 5.391
833
AMN001 Amenorrhea 54 5.379
834
ALP103 Alpha-1-Antitrypsin Deficiency 68 5.367
835
P GLL018 Gallbladder Cancer 53 5.352
836
P NRC002 Narcolepsy 56 5.344
837
c MLT156 Multiple Endocrine Neoplasia, Type I 72 5.342
838
THY111 Thyroid Carcinoma, Familial Medullary 67 5.341
839
P MYT002 Myotonic Dystrophy 51 5.340
840
P PLM034 Pulmonary Emphysema 58 5.331
841
ACT084 Acute Stress Disorder 54 5.330
842
P ANT006 Antiphospholipid Syndrome 55 5.325
843
c CNT035 Central Nervous System Disease 54 5.319
844
LPT001 Leptospirosis 66 5.309
845
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 5.305
846
MXD026 Mixed Glioma 45 5.294
847
ALP077 Alpha-Methylacetoacetic Aciduria 52 5.292
848
SNS003 Sensory Peripheral Neuropathy 52 5.290
849
ANP005 Anaplastic Astrocytoma 57 5.285
850
HYD038 Hydrops Fetalis, Nonimmune 59 5.273
851
INT067 Interstitial Nephritis 46 5.266
852
CRT072 Creutzfeldt-Jakob Disease 68 5.264
853
CTN007 Cutaneous Leishmaniasis 62 5.263
854
P RNL115 Renal Tubular Acidosis, Proximal 32 5.261
855
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 45 5.259
856
c EPS039 Episodic Pain Syndrome, Familial, 1 42 5.252
857
ILT001 Ileitis 48 5.250
858
P MRC003 Mercury Poisoning 49 5.242
859
PNC034 Pancreas Disease 50 5.241
860
NPH003 Nephrocalcinosis 49 5.235
861
APP008 Appendicitis 62 5.234
862
c ACT042 Acute Pyelonephritis 45 5.233
863
MYC015 Mycobacterium Fortuitum 28 5.228
864
P MYP006 Myopia 56 5.217
865
P INT070 Intestinal Obstruction 57 5.215
866
c ATM006 Autoimmune Lymphoproliferative Syndrome 75 5.201
867
NRT004 Neuritis 53 5.192
868
c JVN010 Juvenile Rheumatoid Arthritis 66 5.188
869
PYR016 Pyridoxine Deficiency 29 5.185
870
HRT011 Heart Septal Defect 49 5.183
871
P LRY044 Larynx Cancer 54 5.182
872
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 54 5.176
873
HRP004 Herpes Zoster 61 5.170
874
ESP002 Esophageal Varix 51 5.163
875
NNT033 Neonatal Hypoxic and Ischemic Brain Injury 42 5.157
876
HST006 Histidinemia 48 5.151
877
TCK001 Tick-Borne Encephalitis 59 5.150
878
P DRM010 Dermatomyositis 61 5.133
879
ANP008 Anaplastic Oligoastrocytoma 29 5.133
880
PSR001 Psoriatic Arthritis 62 5.124
881
HYP043 Hyperandrogenism 48 5.111
882
HVY002 Heavy Metal Poisoning 22 5.106
883
WLL004 Wallerian Degeneration 38 5.101
884
FNG017 Fungal Infectious Disease 54 5.100
885
P EPD016 Epidermolysis Bullosa 53 5.080
886
PRM329 Premature Aging 36 5.080
887
c GLC092 Glaucoma, Primary Open Angle 62 5.068
888
CRY003 Cryptosporidiosis 56 5.064
889
GRN017 Granulocytopenia 42 5.061
890
P GLL020 Gallbladder Disease 56 5.056
891
MYC005 Myocardial Stunning 46 5.051
892
CYS005 Cysticercosis 60 5.031
893
P BLD062 Bile Duct Cancer 67 5.018
894
THR100 Thrombocytopenic Purpura, Autoimmune 61 5.012
895
GNT167 Genetic Obesity 30 5.011
896
P EST001 Estrogen-Receptor Positive Breast Cancer 49 5.001
897
BTT017 Beta-Thalassemia Major 51 5.000
898
P VSC018 Visceral Steatosis 32 4.989
899
RFR010 Refractory Anemia 49 4.982
900
P HYP769 Hyperlysinemia, Type I 42 4.982
901
OBS002 Obsessive-Compulsive Disorder 68 4.981
902
RST023 Resting Heart Rate, Variation in 40 4.978
903
c TYR013 Tyrosinemia, Type Ii 49 4.978
904
BCT004 Bacteriuria 47 4.974
905
c PNC106 Pancreatic Agenesis 1 51 4.972
906
FBR012 Fabry Disease 70 4.971
907
CLL010 Cellular Ependymoma 57 4.951
908
DMP001 Dumping Syndrome 43 4.945
909
IMP004 Impetigo 48 4.926
910
P LMY004 Leiomyosarcoma 62 4.924
911
PCK003 Pick Disease of Brain 69 4.914
912
NRF007 Neurofibroma 64 4.911
913
LRN003 Learning Disability 49 4.910
914
P HMR003 Hemorrhagic Disease 59 4.907
915
CRT013 Carotid Stenosis 51 4.904
916
GST037 Gastroparesis 52 4.894
917
VTM033 Vitamin K Deficiency Bleeding 48 4.882
918
EPL131 Epilepsy, Pyridoxine-Dependent 45 4.875
919
P BNG030 Benign Ependymoma 51 4.871
920
PCH007 Pouchitis 42 4.863
921
KLD004 Keloid Disorder 39 4.861
922
PFF001 Pfeiffer Syndrome 77 4.859
923
ACT078 Acute Porphyria 49 4.858
924
PLR007 Pleural Empyema 51 4.857
925
P FCL005 Focal Segmental Glomerulosclerosis 57 4.853
926
P PNC025 Panic Disorder 52 4.850
927
c FNC043 Fanconi Anemia, Complementation Group E 62 4.846
928
P RNL015 Renal Hypertension 45 4.832
929
P TCD001 Tic Disorder 49 4.827
930
CCC002 Coccidiosis 50 4.824
931
DGN001 Degenerative Disc Disease 49 4.822
932
CHD004 Chudley-Mccullough Syndrome 48 4.812
933
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 60 4.810
934
PPL049 Papillon-Lefevre Syndrome 66 4.804
935
THY125 Thyroid Gland Medullary Carcinoma 48 4.803
936
P VNT002 Ventricular Septal Defect 58 4.801
937
P PRP003 Porphyria Cutanea Tarda 66 4.789
938
MYC006 Mycosis Fungoides 65 4.786
939
AND005 Androgen Insensitivity Syndrome, Mild 21 4.785
940
P HMN010 Hemangioma 62 4.784
941
DCB001 Decubitus Ulcer 62 4.784
942
URT001 Urethritis 53 4.761
943
GLB001 Gilbert Syndrome 53 4.755
944
MLN011 Malonyl-Coa Decarboxylase Deficiency 37 4.755
945
P HML001 Hemolytic-Uremic Syndrome 52 4.744
946
HLL004 Hellp Syndrome 53 4.721
947
FRN006 Frontotemporal Dementia 68 4.714
948
MNT001 Mantle Cell Lymphoma 67 4.698
949
c GLY060 Glycogen Storage Disease Ia 63 4.683
950
BBS001 Babesiosis