Search results for Pyruvic acid

992 hits were found for Pyruvic acid

# Family MCID Name MIFTS Score
1
HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 28 6.470
2
LPC003 Lipoic Acid Synthetase Deficiency 11 3.424
3
PYR041 Pyruvate Kinase Deficiency of Red Cells 57 0.387
4
P LVR013 Liver Disease 68 0.375
5
P LCT001 Lactic Acidosis 51 0.318
6
LVR012 Liver Cirrhosis 62 0.315
7
FTT001 Fatty Liver Disease 61 0.308
8
P HML002 Hemolytic Anemia 63 0.305
9
P PRM006 Primary Biliary Cirrhosis 62 0.296
10
MTB004 Metabolic Acidosis 50 0.295
11
P CLR023 Colorectal Cancer 99 0.281
12
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.280
13
DFC004 Deficiency Anemia 70 0.270
14
ISC004 Ischemia 58 0.270
15
CHL068 Cholestasis 61 0.264
16
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 60 0.259
17
48X005 48,xyyy 39 0.255
18
HLX001 Helix Syndrome 47 0.252
19
ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 67 0.250
20
P NRB001 Neuroblastoma 72 0.246
21
NNL005 Non-Alcoholic Fatty Liver Disease 61 0.244
22
HYP056 Hypoglycemia 66 0.243
23
P ENC018 Encephalopathy 61 0.241
24
HYP066 Hyperglycemia 61 0.239
25
P SZR006 Seizure Disorder 56 0.233
26
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.232
27
P GLM045 Glioma 63 0.232
28
P KDN018 Kidney Disease 72 0.231
29
P PRS040 Prostate Cancer 97 0.230
30
GLL048 Glial Tumor 45 0.228
31
GLB015 Glioblastoma Multiforme 75 0.226
32
P FTT008 Fatty Liver Disease, Nonalcoholic 1 60 0.224
33
VSL002 Visual Epilepsy 59 0.222
34
P DRR001 Diarrhea 55 0.221
35
P BRS047 Breast Cancer 97 0.220
36
PYR037 Pyruvate Carboxylase Deficiency 43 0.218
37
HYP266 Hypoxia 57 0.216
38
P HPT023 Hepatocellular Carcinoma 100 0.216
39
PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 35 0.215
40
ACT119 Acute Promyelocytic Leukemia 63 0.213
41
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 90 0.200
42
P MYP004 Myopathy 70 0.195
43
LPD008 Lipid Metabolism Disorder 62 0.195
44
c NRF023 Neurofibromatosis, Type Ii 80 0.194
45
OCL069 Ocular Motor Apraxia 51 0.194
46
P NRP001 Neuropathy 56 0.194
47
P INF037 Inflammatory Bowel Disease 54 0.193
48
BRN071 Brain Injury 49 0.193
49
P ADN016 Adenocarcinoma 64 0.192
50
CLT003 Colitis 62 0.188
51
P LKM002 Leukemia 68 0.188
52
ATM095 Autoimmune Disease 62 0.185
53
P DBT009 Diabetes Mellitus 64 0.185
54
P PNC035 Pancreatic Cancer 84 0.184
55
TRM010 Traumatic Brain Injury 51 0.184
56
c GLL024 Gallbladder Disease 1 53 0.184
57
ANX004 Anoxia 40 0.183
58
OST012 Osteoarthritis 78 0.183
59
TRD008 Triiodothyronine Receptor Auxiliary Protein 34 0.182
60
HYP060 Hyperinsulinism 54 0.178
61
P HNT016 Huntington Disease 72 0.178
62
P PSR002 Psoriasis 62 0.177
63
NNL006 Non-Alcoholic Steatohepatitis 54 0.177
64
P OVR042 Ovarian Cancer 88 0.177
65
PST011 Pustulosis of Palm and Sole 52 0.175
66
P HYP750 Hypertriglyceridemia, Familial 62 0.175
67
BNR002 Bone Resorption Disease 48 0.175
68
P LNG032 Lung Cancer 98 0.174
69
ADN018 Adenoma 59 0.173
70
P VSC007 Vascular Disease 63 0.172
71
PHN003 Phenylketonuria 75 0.171
72
P BDY004 Body Mass Index Quantitative Trait Locus 11 76 0.171
73
P CRN300 Coronary Heart Disease 1 63 0.171
74
PLM001 Pulmonary Tuberculosis 69 0.171
75
c INH020 Inherited Metabolic Disorder 47 0.170
76
ULC004 Ulcerative Colitis 73 0.170
77
PPT005 Peptic Ulcer Disease 59 0.169
78
P MSC005 Muscular Dystrophy 66 0.168
79
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81 0.168
80
P HRT032 Heart Disease 75 0.168
81
CYS001 Cystic Fibrosis 81 0.167
82
c CHR684 Chronic Kidney Disease 70 0.167
83
HMN044 Human Immunodeficiency Virus Type 1 71 0.167
84
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 0.166
85
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.164
86
P CHL066 Cholangitis 51 0.164
87
c ACT027 Acute Pancreatitis 60 0.164
88
c PRC016 Pre-Eclampsia 63 0.164
89
P CTR002 Cataract 60 0.164
90
URM002 Uremia 49 0.164
91
HPT004 Hepatic Coma 45 0.163
92
IRN002 Iron Metabolism Disease 57 0.163
93
P HYP265 Hypotonia 43 0.163
94
P ALZ034 Alzheimer Disease 88 0.160
95
P GST053 Gastric Cancer 83 0.160
96
PRT037 Pertussis 65 0.160
97
P MYL006 Myeloid Leukemia 60 0.159
98
c HYP836 Hypercholesterolemia, Familial, 1 73 0.159
99
TXC005 Toxic Shock Syndrome 62 0.157
100
CYT002 Cytokine Deficiency 42 0.157
101
LPP008 Lipoprotein Quantitative Trait Locus 62 0.156
102
DRM006 Dermatitis 61 0.156
103
OST159 Osteogenic Sarcoma 66 0.155
104
NTR005 Nutritional Deficiency Disease 62 0.154
105
CNG034 Congestive Heart Failure 69 0.154
106
c BDY005 Body Mass Index Quantitative Trait Locus 9 48 0.153
107
c BDY021 Body Mass Index Quantitative Trait Locus 20 52 0.153
108
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 0.153
109
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.153
110
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.153
111
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.153
112
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.153
113
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.153
114
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 0.153
115
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 0.153
116
CRB004 Cerebral Artery Occlusion 45 0.153
117
ALL026 Allergic Hypersensitivity Disease 62 0.152
118
P BLD134 Bladder Cancer 79 0.152
119
LNG099 Lung Disease 60 0.151
120
RNL114 Renal Cell Carcinoma, Nonpapillary 78 0.150
121
P PRP019 Peripheral Nervous System Disease 58 0.149
122
P MYC007 Myocardial Infarction 70 0.148
123
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 66 0.147
124
P HYP076 Hyperthyroidism 55 0.146
125
47X002 47,xyy 49 0.146
126
c HYP595 Hypertension, Essential 84 0.145
127
GLC003 Glucose Intolerance 54 0.144
128
c MCR120 Microvascular Complications of Diabetes 7 47 0.144
129
c LKM061 Leukemia, Acute Myeloid 84 0.144
130
HMS001 Hemosiderosis 54 0.144
131
c MCR113 Microvascular Complications of Diabetes 3 52 0.144
132
c ACT075 Acute Myocardial Infarction 57 0.144
133
c MCR130 Microvascular Complications of Diabetes 6 41 0.144
134
c MCR133 Microvascular Complications of Diabetes 4 41 0.144
135
P CRD119 Cardiac Arrest 67 0.143
136
STT001 Status Epilepticus 60 0.143
137
P GST044 Gastritis 56 0.142
138
ALC007 Alcohol Dependence 66 0.141
139
P HYP086 Hypothyroidism 69 0.141
140
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.141
141
P RRH023 Rare Hereditary Hemochromatosis 41 0.141
142
c PRS136 Prostate Cancer, Hereditary, 6 33 0.140
143
c PRS130 Prostate Cancer, Hereditary, 8 32 0.140
144
INS001 Insulinoma 60 0.140
145
BRR014 Barrett Esophagus 65 0.139
146
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64 0.138
147
PPL052 Papillomatosis, Confluent and Reticulated 33 0.138
148
PLM129 Pulmonary Disease, Chronic Obstructive 73 0.138
149
HPT019 Hepatic Encephalopathy 60 0.137
150
SQM006 Squamous Cell Carcinoma 60 0.136
151
c HPT073 Hepatitis C Virus 72 0.136
152
c ACT071 Acute Kidney Failure 60 0.135
153
DWN001 Down Syndrome 70 0.134
154
P BLD124 Bleeding Disorder, Platelet-Type, 11 63 0.134
155
P NTR004 Neutropenia 63 0.133
156
P MPL001 Maple Syrup Urine Disease 69 0.133
157
P BPL003 Bipolar Disorder 56 0.133
158
c MJR024 Major Affective Disorder 9 41 0.132
159
c MJR022 Major Affective Disorder 8 38 0.132
160
CRH001 Crohn's Disease 74 0.132
161
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 64 0.132
162
MYL069 Myeloma, Multiple 85 0.131
163
RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 40 0.131
164
SKN016 Skin Disease 63 0.131
165
P PNC044 Pancreatitis 61 0.130
166
CRV035 Cervical Cancer 76 0.130
167
P LTR001 Lateral Sclerosis 54 0.130
168
DPR016 Depression 63 0.129
169
ALL014 Allergic Encephalomyelitis 38 0.129
170
P CRD246 Cardiovascular System Disease 57 0.128
171
P DRM053 Dermatitis, Atopic 66 0.128
172
P TRN020 Turner Syndrome 67 0.128
173
P BCL017 B-Cell Lymphoma 58 0.127
174
CRB039 Cerebrovascular Disease 67 0.127
175
P EPL164 Epilepsy 71 0.127
176
PRT036 Peritonitis 64 0.126
177
P MTC069 Mitochondrial Disorders 56 0.126
178
P BRB001 Beriberi 46 0.126
179
ATS010 Autosomal Recessive Disease 48 0.126
180
END086 End Stage Renal Disease 51 0.126
181
c SML038 Small Cell Cancer of the Lung 65 0.126
182
BLR008 Bilirubin Metabolic Disorder 57 0.126
183
c PCH010 Pachyonychia Congenita 3 44 0.125
184
STR067 Stroke, Ischemic 81 0.125
185
EMB004 Embryonal Carcinoma 56 0.125
186
P THL005 Thalassemia 60 0.124
187
HMP009 Haemophilus Influenzae 43 0.124
188
SPN186 Spinal Cord Injury 60 0.123
189
HYP781 Hypoascorbemia 51 0.123
190
THY029 Thyroid Carcinoma 59 0.122
191
P ATS364 Autism 70 0.122
192
HMC014 Homocysteinemia 53 0.122
193
URT049 Urate Oxidase, Pseudogene 25 0.122
194
c ACT073 Acute Leukemia 58 0.122
195
INS024 Insulin-Like Growth Factor I 79 0.121
196
CHL014 Cholera 59 0.121
197
P GLY013 Glycogen Storage Disease 60 0.121
198
c DNT047 Dentinogenesis Imperfecta Type 2 31 0.121
199
c VRL010 Viral Hepatitis 52 0.121
200
AGN016 Aging 56 0.120
201
P ART021 Arteriosclerosis 54 0.120
202
P PRD008 Periodontitis 64 0.120
203
c BDY007 Body Mass Index Quantitative Trait Locus 1 42 0.120
204
ADL002 Adult Syndrome 70 0.120
205
c DWL002 Dowling-Degos Disease 1 58 0.119
206
LGH007 Leigh Syndrome 70 0.119
207
P MNN013 Meningitis 66 0.118
208
c DBT099 Diabetes Mellitus, Type I 65 0.118
209
VTM002 Vitamin B12 Deficiency 48 0.118
210
MLR004 Malaria 81 0.118
211
SRC014 Sarcoma 65 0.117
212
SPN035 Spindle Cell Sarcoma 53 0.117
213
CHL004 Cholelithiasis 49 0.117
214
P SCL009 Sclerosing Cholangitis 48 0.116
215
ATX019 Ataxia with Vitamin E Deficiency 42 0.116
216
c SYS001 Systemic Lupus Erythematosus 86 0.116
217
c ACT134 Acute Liver Failure 56 0.116
218
P DYS154 Dystonia 65 0.114
219
NPH009 Nephrolithiasis 55 0.114
220
c CNG027 Congenital Hemolytic Anemia 50 0.113
221
AST005 Asthma 76 0.113
222
P MCR115 Microvascular Complications of Diabetes 5 66 0.113
223
P HPT021 Hepatitis 67 0.113
224
P RHM011 Rheumatoid Arthritis 80 0.113
225
KRT009 Keratosis 51 0.113
226
URL001 Urolithiasis 45 0.113
227
P TRM003 Tremor 54 0.113
228
DNT012 Dental Caries 53 0.112
229
BRN028 Brain Cancer 74 0.112
230
c MLG068 Malignant Glioma 46 0.112
231
CHL123 Chlamydia 59 0.112
232
RCK004 Rickets 68 0.112
233
c RHB024 Rhabdomyosarcoma 2 67 0.112
234
STM007 Stomatitis 50 0.111
235
c ACT068 Acute Cystitis 63 0.111
236
MSC157 Muscular Dystrophy, Duchenne Type 72 0.110
237
P ART022 Arthritis 69 0.110
238
P PLY019 Polyneuropathy 56 0.109
240
HNS001 Hansen's Disease 34 0.109
241
SPL018 Splenomegaly 48 0.109
242
c ATR087 Atrial Standstill 1 75 0.109
243
P RSP003 Respiratory Failure 74 0.109
244
P LPR021 Leprosy 3 69 0.109
245
P SCH015 Schizophrenia 74 0.109
246
c CHL119 Cholangitis, Primary Sclerosing 57 0.109
247
MYL009 Myelodysplastic Syndrome 70 0.108
248
THR024 Thrombosis 57 0.108
249
c HPT001 Hepatitis C 62 0.108
250
P OVR082 Overgrowth Syndrome 50 0.107
251
P GLM007 Glomerulonephritis 57 0.107
252
P MLT020 Multiple Sclerosis 72 0.107
253
c PLM164 Pulmonary Hypertension, Primary, 1 75 0.106
254
BRN004 Brain Edema 56 0.106
255
c MGR028 Migraine with or Without Aura 1 67 0.106
256
P GCH001 Gaucher's Disease 63 0.105
257
HYP005 Hypokalemia 55 0.105
258
CHL065 Cholangiocarcinoma 68 0.105
259
P RTN024 Retinoblastoma 73 0.105
260
c FML008 Familial Retinoblastoma 53 0.105
261
ERY051 Erythroleukemia, Familial 56 0.105
262
P LYM118 Lymphoma 68 0.104
263
MTC005 Mitochondrial Metabolism Disease 49 0.104
264
P SPP010 Suppressor of Tumorigenicity 3 51 0.104
265
INT079 Intrahepatic Cholangiocarcinoma 51 0.104
266
DBT010 Diabetic Neuropathy 54 0.103
267
P MSC003 Muscular Atrophy 52 0.103
268
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.103
269
P LNG064 Lung Cancer Susceptibility 3 78 0.103
270
c THR092 Thrombophilia Due to Thrombin Defect 73 0.102
271
PLM010 Pulmonary Edema 54 0.102
272
VCC001 Vaccinia 49 0.102
273
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 0.102
274
KRN002 Kearns-Sayre Syndrome 63 0.102
275
CRD132 Cardiac Conduction Defect 58 0.102
276
P MLN008 Melanoma 69 0.101
277
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 0.101
278
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 67 0.101
279
CLN015 Colon Adenocarcinoma 65 0.101
280
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25 0.101
281
ACQ007 Acquired Immunodeficiency Syndrome 60 0.100
282
P THR014 Thrombocytopenia 67 0.100
283
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.100
284
BTN004 Biotin Deficiency 38 0.100
285
P BRS044 Breast Adenocarcinoma 59 0.099
286
P GLM040 Glioma Susceptibility 1 81 0.099
287
ESP021 Esophageal Cancer 90 0.099
288
P PRP029 Porphyria 62 0.098
289
DPH001 Diphtheria 60 0.098
290
P LPS004 Lupus Erythematosus 61 0.097
291
ORL011 Oral Cancer 60 0.097
292
SVR004 Severe Combined Immunodeficiency 73 0.097
293
TTN003 Tetanus 65 0.097
294
MDD011 Mood Disorder 62 0.097
295
P LKM062 Leukemia, Acute Lymphoblastic 69 0.097
296
BRN024 Bronchitis 68 0.097
297
P RHN004 Rhinitis 57 0.096
298
P ECL001 Eclampsia 50 0.096
299
GST045 Gastroenteritis 59 0.096
300
MST005 Mastitis 53 0.096
301
MTH071 Methane Production 26 0.096
302
PRS045 Prostatic Hypertrophy 53 0.096
303
P AST007 Astrocytoma 51 0.096
304
CNG017 Congenital Nonspherocytic Hemolytic Anemia 35 0.096
305
P KDN017 Kidney Cancer 60 0.096
306
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 69 0.096
307
P PNM007 Pneumonia 68 0.096
308
PPL022 Papilloma 54 0.095
309
P SCK005 Sickle Cell Disease 50 0.095
310
CLF027 Cleft Palate, Isolated 64 0.095
311
P RNL007 Renal Tubular Acidosis 51 0.095
312
GST033 Gestational Diabetes 61 0.095
313
P DMN002 Dementia 66 0.095
314
P ALC033 Alcohol Use Disorder 58 0.095
315
P MCR010 Microcephaly 59 0.095
316
GTR002 Goiter 53 0.095
317
P PLM037 Pulmonary Hypertension 67 0.094
318
c SVR001 Severe Acute Respiratory Syndrome 62 0.094
319
P PHC003 Pheochromocytoma 71 0.094
320
KRT002 Keratomalacia 47 0.094
321
ADR040 Adrenal Gland Pheochromocytoma 46 0.094
322
CND006 Candida Glabrata 32 0.093
323
CLR108 Colorectal Adenoma 64 0.093
324
ANG054 Angina Pectoris 66 0.092
325
SQM002 Squamous Cell Papilloma 46 0.092
326
SCK003 Sickle Cell Anemia 74 0.092
327
ANR007 Anorexia Nervosa 63 0.092
328
P INF038 Influenza 68 0.092
329
P FBR017 Fibrosarcoma 56 0.092
330
P MTC133 Mitochondrial Myopathy 49 0.091
331
HDN002 Head Injury 46 0.091
332
CNS004 Constipation 58 0.091
333
CYS013 Cystinuria 63 0.090
334
c DLT002 Dilated Cardiomyopathy 79 0.090
335
P MYC084 Mycobacterium Tuberculosis 1 68 0.090
336
P ART023 Arthropathy 62 0.090
337
RNL077 Renal Fibrosis 47 0.090
338
P MYC008 Myocarditis 59 0.089
339
LYM019 Lymphosarcoma 46 0.089
340
ORL015 Oral Squamous Cell Carcinoma 43 0.089
341
EYD002 Eye Disease 58 0.089
342
TRN015 Transient Cerebral Ischemia 63 0.089
343
PRP027 Peripheral Vascular Disease 71 0.089
344
CRT015 Carotid Artery Occlusion 45 0.088
345
RYS001 Reye Syndrome 51 0.088
346
c SPN225 Spondyloarthropathy 1 73 0.088
347
c HMC039 Hemochromatosis, Type 1 74 0.088
348
CHL079 Children's Interstitial Lung Disease 26 0.088
349
PST092 Posttransplant Acute Limbic Encephalitis 29 0.088
350
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 55 0.088
351
DBT084 Diabetes Mellitus, Ketosis-Prone 60 0.088
352
c GCH015 Gaucher Disease, Type I 70 0.088
353
P NSP012 Nasopharyngeal Carcinoma 66 0.087
354
MSC007 Muscle Hypertrophy 64 0.087
355
P EXN002 Exanthem 57 0.087
356
PRS021 Prostatic Adenoma 51 0.087
357
P HYD006 Hydrocephalus 66 0.086
358
P PLM036 Pulmonary Fibrosis 65 0.086
359
IRN001 Iron Deficiency Anemia 59 0.086
360
WST001 West Syndrome 61 0.086
361
IRR002 Irritable Bowel Syndrome 65 0.085
362
c HPT016 Hepatitis B 59 0.085
363
P CNR004 Cone-Rod Dystrophy 2 73 0.085
364
CTR172 Citrullinemia, Classic 64 0.085
365
NNT012 Neonatal Jaundice 53 0.085
366
c FNC043 Fanconi Anemia, Complementation Group E 62 0.085
367
P OBS001 Obstructive Jaundice 50 0.085
368
DHY010 Dihydrolipoamide Dehydrogenase Deficiency 40 0.085
369
NPH091 Nephrolithiasis, Calcium Oxalate 60 0.085
370
ALL003 Allergic Rhinitis 67 0.084
371
HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 54 0.084
372
PRS129 Prostatic Hyperplasia, Benign 49 0.084
373
TBR011 Tuberculous Meningitis 48 0.084
374
GST040 Gastric Adenocarcinoma 70 0.084
375
ACN002 Acanthosis Nigricans 60 0.084
376
END057 Endometrial Cancer 74 0.084
377
ENT004 Enthesopathy 49 0.084
378
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 47 0.084
379
c MLN055 Melanoma, Cutaneous Malignant 10 52 0.083
380
P TYR004 Tyrosinemia 58 0.083
381
c ATM011 Autoimmune Hepatitis 63 0.083
382
P PRK057 Parkinson Disease, Late-Onset 78 0.083
383
P TRC086 Trichohepatoenteric Syndrome 1 62 0.082
384
DSS009 Disseminated Intravascular Coagulation 57 0.082
385
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.082
386
TRN018 Transitional Cell Carcinoma 56 0.082
387
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 55 0.082
388
P ACT008 Actinic Keratosis 53 0.082
389
P ADL010 Adult Respiratory Distress Syndrome 65 0.081
390
P FRD001 Friedreich Ataxia 64 0.081
391
P END044 Endometriosis 63 0.081
392
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 57 0.081
393
P ATX030 Ataxia-Telangiectasia 82 0.081
394
c LKM063 Leukemia, Chronic Myeloid 72 0.081
395
SPP011 Suppression of Tumorigenicity 12 59 0.081
396
c BTT014 Beta-Thalassemia 74 0.080
397
RFS006 Refsum Disease, Classic 64 0.080
398
LSH001 Leishmaniasis 63 0.080
399
P HDC001 Headache 57 0.080
400
P KLZ004 Kala-Azar 1 41 0.080
401
ARG004 Argyria 27 0.080
402
P BNG032 Benign Mesothelioma 46 0.080
403
P LKM071 Leukemia, Chronic Lymphocytic 79 0.080
404
MNN042 Meningioma, Radiation-Induced 62 0.080
405
P NPH012 Nephrotic Syndrome 60 0.079
406
c MNN043 Meningioma, Familial 74 0.079
407
NRM005 Neuromuscular Disease 64 0.079
408
SPN021 Spinal Meningioma 50 0.079
409
SCR001 Secretory Meningioma 41 0.079
410
LYM002 Lymphoplasmacyte-Rich Meningioma 36 0.079
411
P HYP098 Hypereosinophilic Syndrome 67 0.079
412
CRC021 Carcinosarcoma 62 0.079
413
P RTN016 Retinal Degeneration 53 0.079
414
RTN023 Retinitis 46 0.079
415
NRR001 Neuroretinitis 42 0.079
416
FDL002 Food Allergy 51 0.078
417
P HYP061 Hypertrophic Cardiomyopathy 70 0.078
418
THY030 Thyroid Gland Disease 52 0.078
419
OTT002 Otitis Media 72 0.078
420
P ANP001 Anaplastic Large Cell Lymphoma 58 0.078
421
P CHR071 Charcot-Marie-Tooth Disease 65 0.077
422
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51 0.077
423
PLY150 Polykaryocytosis Inducer 31 0.077
424
TTH006 Tooth Disease 46 0.077
425
HMG005 Hemoglobinopathy 56 0.077
426
P RTN008 Retinitis Pigmentosa 79 0.076
427
PRP001 Propionic Acidemia 65 0.076
428
MXD026 Mixed Glioma 45 0.076
429
P RHB003 Rhabdomyosarcoma 63 0.076
430
c PNS012 Paine Syndrome 61 0.075
431
CRB037 Cerebral Palsy 69 0.075
432
P URT039 Urticaria 58 0.075
433
BRK010 Burkitt Lymphoma 67 0.075
434
VSC002 Vascular Dementia 57 0.075
435
c ATS307 Autosomal Recessive Cerebellar Ataxia 42 0.075
436
THR013 Thoracic Outlet Syndrome 54 0.075
437
P FTL001 Fetal Alcohol Syndrome 57 0.074
438
c SCL052 Scleroderma, Familial Progressive 61 0.074
439
P ANR048 Aniridia 1 63 0.074
440
P SYS005 Systemic Scleroderma 68 0.073
441
P INT068 Intestinal Disease 53 0.073
442
MST004 Mast Cell Neoplasm 42 0.073
443
EXT007 Extracutaneous Mastocytoma 38 0.073
444
SPS057 Spasticity 45 0.073
445
P MDL005 Medulloblastoma 77 0.073
446
P OPT006 Optic Nerve Disease 60 0.072
447
P HRD011 Hereditary Spherocytosis 60 0.072
448
SCH014 Schistosomiasis 57 0.072
449
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 39 0.072
450
P PRM002 Primary Hyperoxaluria 62 0.072
451
GLC009 Glucosephosphate Dehydrogenase Deficiency 52 0.072
452
KWS001 Kwashiorkor 44 0.071
453
c EPS039 Episodic Pain Syndrome, Familial, 1 42 0.071
454
ATX010 Ataxia Neuropathy Spectrum 34 0.071
455
ACT064 Acute Necrotizing Encephalitis 33 0.071
456
BLD137 Blood Group--Ahonen 16 0.071
457
MCR013 Microphthalmia 57 0.071
458
PNC001 Pancytopenia 54 0.071
459
P MNC007 Monocytic Leukemia 53 0.071
460
SQM013 Squamous Cell Carcinoma, Head and Neck 80 0.071
461
TYP007 Typhoid Fever 63 0.071
462
CVD001 Covid-19 44 0.071
463
TLN003 Telangiectasis 52 0.070
464
P ANG001 Angelman Syndrome 69 0.070
465
P MVM001 Movement Disease 63 0.070
466
HYP690 Hyper-Beta-Alaninemia 24 0.070
467
BRC012 Brucellosis 64 0.069
468
INT323 Intraocular Pressure Quantitative Trait Locus 62 0.069
469
GNG013 Gingivitis 59 0.069
470
AMN003 Amnestic Disorder 54 0.069
471
CHR066 Chronic Fatigue Syndrome 61 0.069
472
PNC129 Pancreatic Adenocarcinoma 68 0.069
474
CRB090 Cerebral Hypoxia 44 0.068
475
P PLY014 Polycystic Kidney Disease 62 0.068
476
SBC016 Subacute Delirium 44 0.068
477
P PLY018 Polycythemia 56 0.068
478
SLP001 Sleeping Sickness 54 0.068
479
PRV004 Periventricular Leukomalacia 52 0.068
480
AND002 Androgen Insensitivity Syndrome 66 0.067
481
DYS015 Dysentery 52 0.067
482
INT002 Intermittent Claudication 61 0.067
483
P END033 Endocarditis 57 0.067
484
INT075 Intracranial Hypertension 53 0.066
485
BLD131 Bladder Urothelial Carcinoma 62 0.066
486
PLC008 Placenta Disease 50 0.066
487
RHM001 Rheumatic Fever 60 0.066
488
HYP141 Hyperphenylalaninemia 39 0.066
489
PLG002 Plague 63 0.066
490
c HYP555 Hypertriglyceridemia, Transient Infantile 39 0.066
491
CRD137 Cardiogenic Shock 47 0.066
492
c BRN108 Branchiootic Syndrome 1 62 0.065
493
P UVT001 Uveitis 57 0.065
494
EXT006 Extrahepatic Cholestasis 39 0.065
495
c CHR682 Chronic Bilirubin Encephalopathy 39 0.065
496
HYP561 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness 28 0.065
497
P FBR031 Febrile Seizures 53 0.065
498
PPL049 Papillon-Lefevre Syndrome 65 0.064
499
ALK013 Alkaptonuria 58 0.064
500
P RTN018 Retinal Disease 53 0.064
501
P MYC033 Myoclonus 46 0.064
502
FBR047 Fibromyalgia 58 0.064
503
P MTC004 Mitochondrial Encephalomyopathy 44 0.064
504
KPS004 Kaposi Sarcoma 75 0.064
505
DBT004 Diabetic Polyneuropathy 49 0.064
506
ORG002 Organic Acidemia 44 0.064
507
SFT003 Soft Tissue Sarcoma 56 0.064
508
PRP080 Peripheral Artery Disease 53 0.064
509
CLR109 Colorectal Adenocarcinoma 51 0.064
510
c HNT011 Huntington Disease-Like 3 38 0.064
511
c HYP794 Hyperoxaluria, Primary, Type I 63 0.064
512
TRY001 Trypanosomiasis 50 0.064
513
CRH005 Crohn's Colitis 53 0.063
514
c ACT004 Acute Diarrhea 39 0.063
515
PRP083 Porphyria, Acute Intermittent 64 0.063
516
MYL005 Myelofibrosis 70 0.063
517
P GLL022 Guillain-Barre Syndrome 59 0.063
518
CHR100 Chronic Ulcer of Skin 55 0.063
519
c GRV008 Graves Disease 1 56 0.062
520
P PRS038 Personality Disorder 65 0.062
521
CRB025 Carbohydrate Metabolic Disorder 41 0.062
522
OVR094 Ovarian Epithelial Cancer 38 0.062
523
CYT008 Cytomegalovirus Infection 57 0.062
524
ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 64 0.061
525
CHC001 Chickenpox 60 0.061
526
CYN003 Cyanide Poisoning 24 0.061
527
ART001 Arterial Tortuosity Syndrome 66 0.061
528
c INF145 Infantile Liver Failure Syndrome 1 50 0.061
529
P CRB088 Cerebral Atrophy 37 0.061
530
c EXD008 Exudative Vitreoretinopathy 1 71 0.060
531
HPT022 Hepatoblastoma 56 0.060
532
PLS007 Plasmodium Falciparum Malaria 52 0.060
533
P ALP106 Alport Syndrome 1, X-Linked 55 0.060
534
CHR178 Chromosomal Triplication 35 0.060
535
HYP080 Hypogonadism 50 0.060
536
ILS001 Ileus 51 0.060
537
P TXP001 Toxoplasmosis 60 0.060
538
P OPN001 Open-Angle Glaucoma 49 0.060
539
ALC006 Alcoholic Hepatitis 61 0.059
540
P AXN002 Axenfeld-Rieger Syndrome 59 0.059
541
SKN019 Skin Melanoma 68 0.059
542
PTH003 Pathologic Nystagmus 52 0.059
543
MCR017 Macrocytic Anemia 44 0.059
544
NNT033 Neonatal Hypoxic and Ischemic Brain Injury 43 0.059
545
P PLL002 Pellagra 46 0.059
546
INT066 Interstitial Lung Disease 60 0.058
547
c BCT007 Bacterial Meningitis 55 0.058
548
c SVR005 Severe Pre-Eclampsia 50 0.058
549
c MST023 Mesothelioma, Malignant 57 0.058
550
DFF005 Diffuse Large B-Cell Lymphoma 55 0.058
551
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 0.058
552
ALR002 Al-Raqad Syndrome 33 0.058
553
c ALP101 Alpha-Thalassemia 62 0.058
554
P MYS005 Myositis 56 0.058
555
P GLL018 Gallbladder Cancer 57 0.058
556
LMY002 Leiomyoma 52 0.058
557
ART016 Aortic Aneurysm 69 0.057
558
HPT082 Hepatic Adenomas, Familial 44 0.057
559
HNM002 Hinman Syndrome 27 0.057
560
ARG002 Argininosuccinic Aciduria 61 0.057
561
WLL004 Wallerian Degeneration 39 0.057
562
LWC002 Lowe Oculocerebrorenal Syndrome 65 0.056
563
CNT033 Central Nervous System Cancer 47 0.056
564
YLL002 Yellow Fever 61 0.056
565
DWR001 Dwarfism 44 0.056
566
ADP007 Adie Pupil 39 0.056
567
P SBS003 Substance Abuse 55 0.056
568
P VSC018 Visceral Steatosis 33 0.056
569
P SJG008 Sjogren Syndrome 61 0.056
570
CYS010 Cystinosis 59 0.056
571
c OVR114 Ovarian Cancer 1 38 0.056
572
TXC002 Toxic Encephalopathy 53 0.055
573
PHR003 Pharyngitis 57 0.055
574
P THY032 Thyroiditis 52 0.055
575
LNT004 Lentigines 50 0.055
576
P MLG074 Malignant Mesenchymoma 40 0.055
577
PLC005 Placental Insufficiency 57 0.055
578
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61 0.055
579
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 67 0.055
580
SLR001 Sialuria 50 0.054
581
HYD038 Hydrops Fetalis, Nonimmune 62 0.054
582
P TRT010 Teratoma 52 0.054
583
P PLY041 Polymyositis 57 0.054
584
END081 Endosteal Hyperostosis, Autosomal Dominant 60 0.054
585
MTC023 Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 34 0.054
586
P TBR001 Tuberous Sclerosis 70 0.054
587
PRP016 Paraplegia 52 0.054
588
P CHR285 Chronic Myelomonocytic Leukemia 60 0.054
589
LMB062 Limb Ischemia 55 0.054
590
c PRG106 Progressive Muscular Dystrophy 33 0.054
591
PFF001 Pfeiffer Syndrome 79 0.054
592
NCL007 Nuclear Gene-Encoded Leigh Syndrome 22 0.054
593
P SPR120 Supranuclear Palsy, Progressive, 1 68 0.053
594
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 53 0.053
595
RTN003 Retinal Ischemia 50 0.053
596
P RNL115 Renal Tubular Acidosis, Proximal 31 0.053
597
LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60 0.053
598
GLB001 Gilbert Syndrome 58 0.053
599
P MYT002 Myotonic Dystrophy 49 0.053
600
P LRY044 Larynx Cancer 55 0.053
601
ALX003 Alexander Disease 59 0.052
602
LPR001 Lepromatous Leprosy 50 0.052
603
PRD004 Prediabetes Syndrome 47 0.052
604
P RTT002 Rett Syndrome 80 0.052
605
GNT167 Genetic Obesity 33 0.052
606
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.051
607
MLT018 Multiple Carboxylase Deficiency 45 0.051
608
P BLR006 Biliary Tract Disease 47 0.051
609
PYR016 Pyridoxine Deficiency 30 0.051
610
CMR002 Coumarin Resistance 56 0.051
611
NWB001 Newborn Respiratory Distress Syndrome 58 0.051
612
ATN005 Autonomic Dysfunction 46 0.051
613
CLR030 Clear Cell Renal Cell Carcinoma 53 0.051
614
P CTR177 Citrullinemia, Type Ii, Adult-Onset 57 0.051
615
c ART138 Aortic Aneurysm, Familial Abdominal, 1 59 0.051
616
BRN002 Bronchiolitis 59 0.051
617
THY122 Thyroid Gland Cancer 57 0.051
618
P SYP003 Syphilis 58 0.050
619
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 58 0.050
620
c THY109 Thyroid Cancer, Nonmedullary, 1 56 0.050
621
THR004 Thrombocytosis 51 0.050
622
RTN193 Retinitis Pigmentosa and Erythrocytic Microcytosis 52 0.050
623
SCR015 Scarlet Fever 39 0.050
624
HRT012 Heart Valve Disease 53 0.050
625
RFR010 Refractory Anemia 48 0.049
626
RTN020 Retinal Vascular Disease 46 0.049
627
DCB001 Decubitus Ulcer 61 0.049
628
RHM028 Rheumatic Heart Disease 53 0.049
629
SPR126 Superior Semicircular Canal Dehiscence 40 0.049
630
c HMG029 Hemoglobin Se Disease 39 0.049
631
SPN050 Spinocerebellar Degeneration 42 0.049
632
c GLY060 Glycogen Storage Disease Ia 63 0.049
633
PNM008 Pneumothorax 56 0.049
634
P PTS002 Ptosis 53 0.049
635
P MLG056 Malignant Hyperthermia 67 0.049
636
P MTH007 Methemoglobinemia 46 0.049
637
OBS002 Obsessive-Compulsive Disorder 68 0.048
638
AMN001 Amenorrhea 54 0.048
639
RST023 Resting Heart Rate, Variation in 41 0.048
640
MTC097 Mitochondrial Complex Iv Deficiency 59 0.048
641
LRN003 Learning Disability 49 0.048
642
CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 65 0.047
643
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 60 0.047
644
BRS051 Breast Disease 58 0.047
645
SNS003 Sensory Peripheral Neuropathy 54 0.047
646
P EPD016 Epidermolysis Bullosa 53 0.047
647
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 48 0.047
648
P KRN004 Kernicterus 47 0.047
649
DBT007 Diabetic Cataract 38 0.047
650
PLN001 Plantar Wart 34 0.047
651
P LMY004 Leiomyosarcoma 63 0.047
652
EPL050 Epilepsy, Partial, with Pericentral Spikes 25 0.047
653
CRP001 Carpal Tunnel Syndrome 67 0.047
654
INC002 Inclusion Body Myositis 58 0.047
655
INF034 Infective Endocarditis 53 0.047
656
P SBR004 Seborrheic Dermatitis 45 0.047
657
LPT001 Leptospirosis 66 0.046
658
c MLG084 Malignant Fibrous Histiocytoma 63 0.046
659
P SDR003 Sideroblastic Anemia 49 0.046
660
MTB016 Metabolic Myopathy 32 0.046
661
c BLD140 Blood Group, I System 32 0.046
662
FMR004 Fumarase Deficiency 51 0.046
663
c TBR025 Tuberous Sclerosis 1 77 0.046
664
HRP004 Herpes Zoster 60 0.046
665
P ATS308 Autosomal Dominant Cerebellar Ataxia 60 0.046
666
BLR013 Biliary Tract Cancer 42 0.046
667
AMB001 Amebiasis 55 0.046
668
TST044 Testicular Torsion 47 0.046
669
P DRM010 Dermatomyositis 61 0.045
671
P EST001 Estrogen-Receptor Positive Breast Cancer 49 0.045
672
EPD015 Epidemic Typhus 45 0.045
673
FLR002 Filariasis 55 0.045
674
PLY001 Polycythemia Vera 69 0.045
675
P CRB210 Cerebrofacial Arteriovenous Metameric Syndrome 28 0.045
676
MYC088 Mycobacterium Avium Complex Infections 29 0.045
677
BTM003 Beta-Aminoisobutyric Aciduria 20 0.045
678
CLS047 Classic Progressive Supranuclear Palsy Syndrome 31 0.045
679
P APL001 Aplastic Anemia 74 0.045
680
P CHR012 Chronic Granulomatous Disease 67 0.045
681
P ANT006 Antiphospholipid Syndrome 55 0.045
682
c CHR095 Chronic Progressive External Ophthalmoplegia 46 0.044
683
LMY014 Leiomyoma, Uterine 56 0.044
684
PNC034 Pancreas Disease 48 0.044
685
MRS001 Marasmus 42 0.044
686
PLY100 Polyploidy 40 0.044
687
ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 54 0.044
688
P MTR003 Mitral Valve Stenosis 50 0.044
689
LNG015 Lingual-Facial-Buccal Dyskinesia 50 0.044
690
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 49 0.044
691
P BLD062 Bile Duct Cancer 67 0.044
692
CNV004 Canavan Disease 61 0.044
693
DFF036 Differentiated Thyroid Carcinoma 52 0.044
694
c 3MT015 3-Methylglutaconic Aciduria, Type I 51 0.044
695
APR001 Apraxia 52 0.043
696
BBS001 Babesiosis 48 0.043
697
END062 Endometrial Hyperplasia 48 0.043
698
TYR015 Tyrosinosis 20 0.043
699
INT030 Intracranial Aneurysm 56 0.043
700
BRN014 Bronchopneumonia 54 0.043
701
c PNC106 Pancreatic Agenesis 1 51 0.043
702
HMG002 Hemoglobinuria 50 0.043
703
VLV047 Volvulus of Midgut 49 0.043
704
GRW007 Growth Hormone Deficiency 46 0.043
705
BRN032 Brain Glioma 45 0.043
706
SPS003 Spastic Diplegia 51 0.043
707
TNG009 Tongue Squamous Cell Carcinoma 44 0.043
708
GST037 Gastroparesis 54 0.043
709
TRC003 Trichomoniasis 53 0.043
710
AND005 Androgen Insensitivity Syndrome, Mild 19 0.042
711
HMP005 Hemiplegia 55 0.042
712
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 0.042
713
CRY003 Cryptosporidiosis 54 0.042
714
CRV040 Cervix Carcinoma 51 0.042
715
CRT013 Carotid Stenosis 50 0.042
716
c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 35 0.042
717
BTN003 Biotinidase Deficiency 60 0.042
718
P HYP769 Hyperlysinemia, Type I 41 0.042
719
HYP264 Hypertonia 38 0.042
720
PRD026 Pre-Descemet Corneal Dystrophy 21 0.042
721
MTC015 Mitochondrial Dna-Associated Leigh Syndrome and Narp 24 0.042
722
VRC001 Varicocele 49 0.041
723
P MYG005 Myoglobinuria 44 0.041
724
P GLC113 Galactosemia I 64 0.041
725
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 55 0.041
726
MYC005 Myocardial Stunning 46 0.041
727
c PRM015 Primary Cerebellar Degeneration 36 0.041
728
P TYS001 Tay-Sachs Disease 69 0.041
729
THY121 Thyroid Gland Anaplastic Carcinoma 66 0.041
730
c TYR012 Tyrosinemia, Type I 66 0.041
731
GLL008 Gilles De La Tourette Syndrome 66 0.041
732
c LKM070 Leukemia, Acute Monocytic 57 0.041
733
PDG002 Pdgfrb-Associated Chronic Eosinophilic Leukemia 27 0.041
734
GRD001 Giardiasis 45 0.040
735
BCT021 Bacterial Sepsis 44 0.040
736
HMN035 Hemangioma-Thrombocytopenia Syndrome 40 0.040
737
NRF007 Neurofibroma 64 0.040
738
RSP019 Respiratory Distress Syndrome in Premature Infants 58 0.040
739
RYN005 Raynaud Phenomenon 47 0.040
740
ENC005 Encephalomalacia 43 0.040
741
KLB003 Klebsiella Pneumonia 41 0.040
742
PCH007 Pouchitis 39 0.040
743
PCK003 Pick Disease of Brain 68 0.040
744
GLY010 Glycine Encephalopathy 62 0.040
745
TRC008 Trachoma 53 0.040
746
SYN036 Syncope 45 0.040
747
P NRM002 Normal Pressure Hydrocephalus 54 0.040
748
P HYP730 Hypogonadotropic Hypogonadism 52 0.040
749
HLC001 Holocarboxylase Synthetase Deficiency 48 0.040
750
TRC120 Tricarboxylic Acid Cycle, Defect of 16 0.040
751
c LCL006 Localized Scleroderma 62 0.039
752
P PTY003 Pityriasis Rubra Pilaris 58 0.039
753
ARG007 Argininemia 57 0.039
754
c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 55 0.039
755
DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 48 0.039
756
MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 32 0.039
757
ABT001 Abetalipoproteinemia 69 0.039
758
BRT005 Barth Syndrome 57 0.039
759
ATR057 Atrioventricular Block 55 0.039
760
P RST001 Restless Legs Syndrome 54 0.039
761
ACT200 Acute Monoblastic Leukemia 52 0.039
762
QDR001 Quadriplegia 48 0.039
763
c MLT156 Multiple Endocrine Neoplasia, Type I 72 0.038
764
CYS005 Cysticercosis 53 0.038
765
ORN001 Ornithosis 38 0.038
766
BRR002 Barrett's Adenocarcinoma 36 0.038
767
MSC152 Muscular Dystrophy, Becker Type 63 0.038
768
NRN002 Neuronitis 32 0.038
769
BLM001 Bloom Syndrome 67 0.038
770
P CNG003 Congenital Dyserythropoietic Anemia 49 0.037
771
GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 38 0.037
772
P TTR001 Tetralogy of Fallot 70 0.037
773
LYM017 Lyme Disease 64 0.037
774
SYS003 Systolic Heart Failure 49 0.037
775
P CRB059 Cerebellar Degeneration 37 0.037
776
ORN004 Ornithinemia 17 0.037
777
INS023 Insensitivity to Pain, Congenital, with Anhidrosis 56 0.037
778
WRN003 Wernicke Encephalopathy 47 0.037
779
CRB009 Cerebritis 37 0.037
780
c ANM038 Anemia, Autoimmune Hemolytic 62 0.037
781
P RTN022 Retinal Vein Occlusion 53 0.037
782
BHR001 Behr Syndrome 51 0.037
783
P CRV039 Cervicitis 49 0.037
784
MNN020 Meningococcal Infection 46 0.037
785
P DMY001 Demyelinating Polyneuropathy 43 0.037
786
NRM022 Neurometabolic Disease 25 0.037
787
ACR006 Aceruloplasminemia 65 0.036
788
P FTL069 Fetal Akinesia Deformation Sequence 1 64 0.036
789
P LYM033 Lymphoproliferative Syndrome 59 0.036
790
P CRV031 Cervical Adenocarcinoma 49 0.036
791
CMP002 Campylobacteriosis 46 0.036
792
c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 57 0.036
793
c MTC060 Mitochondrial Dna Depletion Syndrome 9 45 0.036
794
HYP187 Hypertryptophanemia 41 0.036
795
c HMG001 Hemoglobin C Disease 40 0.036
796
PNT003 Pinta Disease 31 0.036
797
IMM162 Immunoglobulin E Concentration, Serum 28 0.036
798
P ERL057 Early Infantile Epileptic Encephalopathy 63 0.036
799
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 47 0.036
800
ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 38 0.036
801
P MCH002 Machado-Joseph Disease 62 0.035
802
FLR001 Filarial Elephantiasis 55 0.035
803
P PRG013 Paraganglioma 52 0.035
804
MDS022 Mediastinitis 46 0.035
805
P SDR002 Siderosis 44 0.035
806
FBR019 Fibromatosis 41 0.035
807
MYC016 Mycobacterium Gordonae 21 0.035
808
P PTT014 Pitt-Hopkins Syndrome 63 0.035
809
P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 59 0.035
810
P EPL140 Epilepsy, Idiopathic Generalized 62 0.034
811
ECH003 Echinococcosis 53 0.034
812
P OVR049 Ovarian Disease 52 0.034
813
c TYR013 Tyrosinemia, Type Ii 47 0.034
814
P ATX024 Ataxia-Oculomotor Apraxia 3 44 0.034
815
ART008 Arteriosclerosis Obliterans 40 0.034
816
RSP007 Respiratory Distress Syndrome, Infant 30 0.034
817
P ACR001 Aicardi-Goutieres Syndrome 62 0.034
818
c ACR116 Aicardi-Goutieres Syndrome 1 52 0.034
819
c PRM012 Primary Polycythemia 50 0.034
820
ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 49 0.034
821
ACT098 Acute Erythroid Leukemia 48 0.034
822
HYP082 Hypopharynx Cancer 47 0.034
823
MNC019 Monocarboxylate Transporter 1 Deficiency 47 0.034
824
CRB196 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 46 0.034
825
ALC005 Alcoholic Pancreatitis 40 0.034
826
3HY010 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 34 0.034
827
P EPS003 Episodic Ataxia 59 0.034
828
WRN002 Wernicke-Korsakoff Syndrome 50 0.034
829
ANH002 Anhidrosis 47 0.034
830
P VTL001 Vitelliform Macular Dystrophy 42 0.034
831
SPL006 Splenic Infarction 38 0.034
832
BLD163 Blood Group, Dombrock System 24 0.034
833
P RRN010 Rare Neurodegenerative Disease 20 0.034
834
P HRD012 Hereditary Elliptocytosis 51 0.033
835
c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 43 0.033
836
ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 24 0.033
837
P LPS002 Liposarcoma 65 0.033
838
CRB150 Cerebral Creatine Deficiency Syndrome 2 53 0.033
839
FCL012 Facial Paralysis 46 0.033
840
FLL031 Follicular Adenoma 39 0.033
841
P AXN001 Axonal Neuropathy 36 0.033
842
BRK012 Broken Heart Syndrome 35 0.033
843
KLB004 Klebsiella Infection 27 0.033
844
PLL001 Pallister-Hall Syndrome 64 0.032
845
P SHR029 Short Syndrome 63 0.032
846
PRS127 Pearson Marrow-Pancreas Syndrome 47 0.032
847
c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 45 0.032
848
DBT090 Diabetes and Deafness, Maternally Inherited 44 0.032
849
HRD218 Hereditary Stomatocytosis 32 0.032
850
CYT014 Cytochrome P450 Oxidoreductase Deficiency 32 0.032
851
PRX097 Paroxysmal Dystonia 32 0.032
852
FMR011 Fumarate Hydratase Deficiency 30 0.032
853
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 68 0.032
854
C1N001 C1 Inhibitor Deficiency 39 0.032
855
HYP026 Hypoglycemic Coma 36 0.032
856
MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 35 0.032
857
HPT085 Hepatitis, Fulminant Viral 32 0.032
858
PLR005 Pleuropneumonia 31 0.032
859
P EPD003 Epidermolysis Bullosa Simplex 58 0.031
861
THR012 Thoracic Cancer 44 0.031
862
FRC013 Fructose Utilization 15 0.031
863
SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 59 0.030
864
UMB002 Umbilical Hernia 46 0.030
865
DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 46 0.030
866
PSD001 Pseudobulbar Palsy 42 0.030
867
PPC001 Pepck 1 Deficiency 32 0.030
868
SRC009 Sarcomatosis 31 0.030
869
CNJ001 Conjugate Gaze Palsy 29 0.030
870
LPY002 Lipoyltransferase 1 Deficiency 23 0.030
871
ACT239 Acetyl-Coa Acetyltransferase-2 Deficiency 23 0.030
872
PNS018 Pain Sensitivity Quantitative Trait Locus 1 23 0.030
873
c LCT020 Lactic Acidosis, Chronic Adult Form 8 0.030
874
LYM007 Lymphangioleiomyomatosis 69 0.030
875
P TST021 Testicular Germ Cell Tumor 60 0.030
876
P RST002 Restrictive Cardiomyopathy 56 0.030
877
ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 53 0.030
878
ONC002 Onchocerciasis 52 0.030
879
PNC013 Pancreatic Ductal Carcinoma 48 0.030
880
CLN003 Clonorchiasis 44 0.030
881
GLC024 Glucose Transporter Type 1 Deficiency Syndrome 34 0.030
882
THY006 Thymus Lymphoma 26 0.030
883
PRS119 Persistent Genital Arousal Disorder 18 0.030
884
CNT097 Central Hypoventilation Syndrome, Congenital 71 0.029
885
P HYP050 Hyperinsulinemic Hypoglycemia 55 0.029
886
c MLG069 Malignant Hypertension 47 0.029
887
GLC022 Glucose/galactose Malabsorption 45 0.029
888
BSL008 Basal Ganglia Disease 43 0.029
889
DXR001 Doxorubicin Induced Cardiomyopathy 33 0.029
890
c CHR085 Chronic Cervicitis 26 0.029
891
MYC079 Myoclonic Epilepsy of Lafora 64 0.028
892
MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 60 0.028
893
FNC009 Fanconi-Bickel Syndrome 56 0.028
894
P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 38 0.028
895
OCL015 Oculomotor Apraxia 37 0.028
896
MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 36 0.028
897
c THM013 Thiamine Metabolism Dysfunction Syndrome 5 31 0.028
898
PRG074 Progressive Myoclonus Epilepsy, Lafora Type 29 0.028
899
P MLN066 Melanoma, Cutaneous Malignant 1 70 0.028
900
c INT072 Intestinal Pseudo-Obstruction 56 0.028
901
ANL022 Anal Fistula 46 0.028
902
PCD001 Pica Disease 41 0.028
903
HYP784 Hypogonadism, Male 40 0.028
904
c DMN005 Diamond-Blackfan Anemia 2 25 0.028
905
c PRG042 Progressive Familial Heart Block, Type Ia 69 0.027
906
c GLY003 Glycogen Storage Disease Iii 59 0.027
907
P AGN002 Agnosia 55 0.027
908
c GLY011 Glycogen Storage Disease Vii 55 0.027
909
FCT004 Factor Xii Deficiency 55 0.027
910
c PRG043 Progressive Familial Heart Block, Type Ib 54 0.027
911
P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 53 0.027
912
P HMG032 Hemoglobin H Disease 52 0.027
913
GRC001 Gracile Syndrome 47 0.027
914
c ADL052 Adult Acute Lymphocytic Leukemia 47 0.027
915
DYS032 Dystrophinopathies 43 0.027
916
c LYM150 Lymphatic Malformation 7 40 0.027
917
P HRD217 Hereditary Optic Neuropathy 36 0.027
918
BLD052 Blood Group Incompatibility 32 0.027
919
MTY003 Mutyh Polyposis 30 0.027
920
MNK001 Menkes Disease 64 0.025
921
c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56 0.025
922
P PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 55 0.025
923
c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 54 0.025
924
c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 50 0.025
925
MYC012 Mycetoma 49 0.025
926
CYC008 Cyclic Vomiting Syndrome 47 0.025
927
c SPR009 Sporadic Breast Cancer 45 0.025
928
ELP001 Elephantiasis 41 0.025
929
PLG004 Plagiocephaly 41 0.025
930
SPS004 Spastic Quadriplegia 39 0.025
931
HYP001 Hypochromic Microcytic Anemia 38 0.025
933
HLT002 Halothane Hepatitis 32 0.025
934
HYP029 Hyperthyroxinemia 31 0.025
935
IMM039 Immune Hydrops Fetalis 30 0.025
936
MYL080 Myalgic Encephalomyelitis/chronic Fatigue Syndrome 27 0.025
937
MYC018 Mycobacterium Malmoense 26 0.025
938
BLD165 Blood Group, Colton System 20 0.025
939
P JBR020 Joubert Syndrome 1 72 0.024
940
SVR066 Severe Combined Immunodeficiency, X-Linked 66 0.024
941
P LRS001 Larsen Syndrome 62 0.024
942
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 61 0.024
943
c GLY005 Glycogen Storage Disease Vi 56 0.024
944
PLC003 Placental Site Trophoblastic Tumor 47 0.024
945
c ACT076 Acute Myocarditis 46 0.024
946
c XLN110 X-Linked Charcot-Marie-Tooth Disease 42 0.024
947
P SPS008 Spastic Ataxia 41 0.024
948
P ALK015 Alk-Positive Anaplastic Large Cell Lymphoma 40 0.024
949
MLG086 Malignant Hyperthermia Susceptibility 39 0.024
950
c ERL056 Early-Onset Parkinson's Disease 39 0.024
951
MTH026 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase 36 0.024
952
PRX035 Paroxysmal Dyskinesia 33 0.024
953
KDN013 Kidney Hypertrophy 32 0.024
954
HYP645 Hyperthyroxinemia, Dystransthyretinemic 31 0.024
955
ISL119 Isolated Optic Neuritis 30 0.024
956
PDT027 Pediatric Ulcerative Colitis 28 0.024
957
PTR034 Paternal Uniparental Disomy 23 0.024
958
RGH009 Right Atrial Isomerism 60 0.022
959
PLM070 Pulmonic Stenosis 57 0.022
960
P EPS030 Episodic Kinesigenic Dyskinesia 1 54 0.022
961
c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 52 0.022
962
c HYP603 Hyperoxaluria, Primary, Type Iii 50 0.022
963
PLY024 Polymicrogyria 49 0.022
964
RGH001 Right Bundle Branch Block 48 0.022
965
GLT018 Glut1 Deficiency Syndrome 1 43 0.022
966
c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 42 0.022
967
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.022
968
c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 40 0.022
969
EST004 Estrogen Excess 40 0.022
970
FRS012 First-Degree Atrioventricular Block 38 0.022
971
HYP835 Hypothalamic Obesity 38 0.022
972
c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 38 0.022
973
c PRX088 Paroxysmal Nonkinesigenic Dyskinesia 1 37 0.022
974
SPN331 Spondyloocular Syndrome 36 0.022
975
MTG002 Mutagen Sensitivity 35 0.022
976
c THY084 Thyrotoxic Periodic Paralysis 1 35 0.022
977
CNS013 Constricting Bands, Congenital 35 0.022
979
EMY001 Eumycotic Mycetoma 34 0.022
980
NNT011 Neonatal Anemia 34 0.022
981
TRG019 Trigonocephaly with Short Stature and Developmental Delay 32 0.022
982
MYP097 Myopathy with Lactic Acidosis, Hereditary 31 0.022
983
c THY083 Thyrotoxic Periodic Paralysis 2 31 0.022
984
P ACT241 Acute Bilirubin Encephalopathy 31 0.022
985
c ERL003 Early Onset Absence Epilepsy 28 0.022
986
c TTH010 Tooth Agenesis, Selective, 1 27 0.022
987
BTN005 Biotin-Thiamine-Responsive Basal Ganglia Disease 22 0.022
988
CRB155 Carbonic Anhydrase Va Deficiency 20 0.022
989
ACC008 Accelerated Tumor Formation 20 0.022
990
CRB089 Cerebral Beriberi 18 0.022
991
PHS027 Phosphoglycoprotein 1 14 0.022
992
DSR072 Disorder of Energy Metabolism 12 0.022
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