Search results for Pyruvic acid

977 hits were found for Pyruvic acid

# Family MCID Name MIFTS Score
1
HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 28 6.506
2
LPC003 Lipoic Acid Synthetase Deficiency 11 3.443
3
PYR041 Pyruvate Kinase Deficiency of Red Cells 57 0.393
4
P LVR013 Liver Disease 68 0.383
5
P LCT001 Lactic Acidosis 51 0.324
6
LVR012 Liver Cirrhosis 63 0.320
7
FTT001 Fatty Liver Disease 61 0.312
8
P HML002 Hemolytic Anemia 62 0.310
9
MTB004 Metabolic Acidosis 50 0.303
10
P PRM006 Primary Biliary Cirrhosis 61 0.303
11
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.296
12
P CLR023 Colorectal Cancer 98 0.292
13
DFC004 Deficiency Anemia 75 0.275
14
ISC004 Ischemia 60 0.271
15
CHL068 Cholestasis 60 0.271
16
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 62 0.265
17
48X005 48,xyyy 39 0.261
18
HLX001 Helix Syndrome 47 0.260
19
P NRB001 Neuroblastoma 71 0.253
20
HYP056 Hypoglycemia 66 0.250
21
P ENC018 Encephalopathy 61 0.246
22
NNL005 Non-Alcoholic Fatty Liver Disease 62 0.246
23
HYP066 Hyperglycemia 61 0.246
24
P SZR006 Seizure Disorder 58 0.241
25
ATX038 Ataxia and Polyneuropathy, Adult-Onset 44 0.239
26
P GLM045 Glioma 63 0.239
27
P KDN018 Kidney Disease 70 0.238
28
GLL048 Glial Tumor 45 0.235
29
P PRS040 Prostate Cancer 97 0.235
30
GLB015 Glioblastoma Multiforme 75 0.233
31
P BRS047 Breast Cancer 96 0.229
32
VSL002 Visual Epilepsy 58 0.229
33
P DRR001 Diarrhea 57 0.227
34
HYP266 Hypoxia 56 0.227
35
P FTT008 Fatty Liver Disease, Nonalcoholic 1 57 0.226
36
PYR037 Pyruvate Carboxylase Deficiency 43 0.223
37
PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 33 0.219
38
P HPT023 Hepatocellular Carcinoma 100 0.219
39
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89 0.206
40
P INF037 Inflammatory Bowel Disease 56 0.206
41
BRN071 Brain Injury 49 0.205
42
OCL069 Ocular Motor Apraxia 51 0.201
43
P MYP004 Myopathy 64 0.201
44
LPD008 Lipid Metabolism Disorder 62 0.199
45
P NRP001 Neuropathy 56 0.199
46
P NRF023 Neurofibromatosis, Type Ii 76 0.198
47
CLT003 Colitis 62 0.196
48
P ADN016 Adenocarcinoma 64 0.194
49
P LKM002 Leukemia 66 0.194
50
P PNC035 Pancreatic Cancer 84 0.191
51
TRM010 Traumatic Brain Injury 53 0.191
52
c GLL024 Gallbladder Disease 1 52 0.189
53
ATM095 Autoimmune Disease 61 0.189
54
ANX004 Anoxia 42 0.188
55
P DBT009 Diabetes Mellitus 64 0.188
56
OST012 Osteoarthritis 78 0.186
57
HYP060 Hyperinsulinism 54 0.184
58
TRD008 Triiodothyronine Receptor Auxiliary Protein 34 0.183
59
P PSR002 Psoriasis 62 0.183
60
P HNT016 Huntington Disease 71 0.182
61
P OVR042 Ovarian Cancer 89 0.182
62
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81 0.181
63
PST011 Pustulosis of Palm and Sole 52 0.181
64
P LNG032 Lung Cancer 97 0.181
65
P BDY004 Body Mass Index Quantitative Trait Locus 11 76 0.180
66
ADN018 Adenoma 58 0.180
67
P HYP750 Hypertriglyceridemia, Familial 61 0.180
68
BNR002 Bone Resorption Disease 48 0.179
69
P VSC007 Vascular Disease 63 0.177
70
PHN003 Phenylketonuria 75 0.176
71
P CRN300 Coronary Heart Disease 1 63 0.175
72
ULC004 Ulcerative Colitis 73 0.175
73
PLM001 Pulmonary Tuberculosis 70 0.175
74
PPT005 Peptic Ulcer Disease 58 0.174
75
c INH020 Inherited Metabolic Disorder 46 0.174
76
P MSC005 Muscular Dystrophy 66 0.172
77
CYS001 Cystic Fibrosis 80 0.172
78
HMN044 Human Immunodeficiency Virus Type 1 71 0.171
79
c CHR684 Chronic Kidney Disease 66 0.170
80
P CTR002 Cataract 60 0.169
81
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 56 0.168
82
URM002 Uremia 49 0.168
83
HPT004 Hepatic Coma 43 0.168
84
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.168
85
ALL026 Allergic Hypersensitivity Disease 64 0.167
86
P HYP265 Hypotonia 42 0.167
87
c PRC016 Pre-Eclampsia 63 0.167
88
P HRT032 Heart Disease 75 0.166
89
P CHL066 Cholangitis 50 0.166
90
P GST053 Gastric Cancer 83 0.166
91
NNL006 Non-Alcoholic Steatohepatitis 51 0.165
92
IRN002 Iron Metabolism Disease 57 0.165
93
PRT037 Pertussis 65 0.165
94
DRM006 Dermatitis 61 0.163
95
c HYP836 Hypercholesterolemia, Familial, 1 72 0.163
96
c ACT027 Acute Pancreatitis 59 0.163
97
c BDY005 Body Mass Index Quantitative Trait Locus 9 48 0.163
98
c BDY021 Body Mass Index Quantitative Trait Locus 20 52 0.163
99
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 0.163
100
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.163
101
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.163
102
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.163
103
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.163
104
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.163
105
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 0.163
106
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 0.163
107
CYT002 Cytokine Deficiency 44 0.161
108
TXC005 Toxic Shock Syndrome 61 0.161
109
P BLD134 Bladder Cancer 78 0.161
110
P CRN018 Coronary Artery Anomaly 63 0.160
111
P ALZ034 Alzheimer Disease 88 0.160
112
CNG034 Congestive Heart Failure 70 0.158
113
NTR005 Nutritional Deficiency Disease 61 0.157
114
CRB004 Cerebral Artery Occlusion 44 0.156
115
OST159 Osteogenic Sarcoma 66 0.155
116
P PRP019 Peripheral Nervous System Disease 57 0.153
117
P MYL006 Myeloid Leukemia 60 0.152
118
LNG099 Lung Disease 61 0.152
119
P MYC007 Myocardial Infarction 70 0.152
120
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 66 0.151
121
c HYP595 Hypertension, Essential 84 0.151
122
47X002 47,xyy 49 0.150
123
P HYP076 Hyperthyroidism 55 0.150
124
CRB039 Cerebrovascular Disease 69 0.150
125
RNL114 Renal Cell Carcinoma, Nonpapillary 78 0.148
126
c ACT075 Acute Myocardial Infarction 56 0.148
127
c LKM061 Leukemia, Acute Myeloid 83 0.148
128
P CRD119 Cardiac Arrest 67 0.147
129
GLC003 Glucose Intolerance 54 0.147
130
P GST044 Gastritis 55 0.147
131
STT001 Status Epilepticus 59 0.146
132
P HYP086 Hypothyroidism 68 0.146
133
ALC007 Alcohol Dependence 66 0.146
134
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.145
135
HMS001 Hemosiderosis 54 0.143
136
BRR014 Barrett Esophagus 64 0.143
137
INS001 Insulinoma 60 0.143
138
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 63 0.142
139
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64 0.142
140
P LYM031 Lymphocytic Leukemia 55 0.142
141
c PRS136 Prostate Cancer, Hereditary, 6 33 0.141
142
c PRS130 Prostate Cancer, Hereditary, 8 32 0.141
143
c MCR120 Microvascular Complications of Diabetes 7 47 0.141
144
c MCR113 Microvascular Complications of Diabetes 3 52 0.141
145
PPL052 Papillomatosis, Confluent and Reticulated 34 0.141
146
SQM006 Squamous Cell Carcinoma 60 0.141
147
PLM129 Pulmonary Disease, Chronic Obstructive 73 0.141
148
c MCR130 Microvascular Complications of Diabetes 6 41 0.141
149
c MCR133 Microvascular Complications of Diabetes 4 41 0.141
150
HPT019 Hepatic Encephalopathy 60 0.140
151
P RRH023 Rare Hereditary Hemochromatosis 41 0.140
152
c HPT073 Hepatitis C Virus 70 0.140
153
c ACT071 Acute Kidney Failure 59 0.139
154
P MPL001 Maple Syrup Urine Disease 69 0.139
155
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 64 0.138
156
P NTR004 Neutropenia 63 0.137
157
CRH001 Crohn's Disease 74 0.137
158
P BPL003 Bipolar Disorder 56 0.136
159
MYL069 Myeloma, Multiple 85 0.135
160
c MJR024 Major Affective Disorder 9 41 0.135
161
c MJR022 Major Affective Disorder 8 38 0.135
162
P EPL164 Epilepsy 71 0.135
163
P BLD124 Bleeding Disorder, Platelet-Type, 11 61 0.135
164
P PNC044 Pancreatitis 61 0.134
165
CRV035 Cervical Cancer 76 0.134
166
STR067 Stroke, Ischemic 80 0.134
167
c SML038 Small Cell Cancer of the Lung 65 0.134
168
P LTR001 Lateral Sclerosis 53 0.133
169
RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 40 0.133
170
DPR016 Depression 63 0.133
171
P CRD246 Cardiovascular System Disease 56 0.132
172
P TRN020 Turner Syndrome 65 0.132
173
END030 End Stage Renal Failure 58 0.131
174
P BRB001 Beriberi 44 0.130
175
PRT036 Peritonitis 65 0.129
176
P BCL017 B-Cell Lymphoma 58 0.129
177
EMB004 Embryonal Carcinoma 57 0.129
178
ALL014 Allergic Encephalomyelitis 39 0.129
179
c PCH010 Pachyonychia Congenita 3 43 0.128
180
P MTC069 Mitochondrial Disorders 56 0.128
181
ATS010 Autosomal Recessive Disease 48 0.127
182
HMP009 Haemophilus Influenzae 42 0.127
183
DWN001 Down Syndrome 70 0.127
184
SKN016 Skin Disease 63 0.127
185
THY029 Thyroid Carcinoma 59 0.126
186
P DRM053 Dermatitis, Atopic 66 0.126
187
P ATS364 Autism 65 0.126
188
HMC014 Homocysteinemia 53 0.126
189
HYP781 Hypoascorbemia 50 0.125
190
c ACT073 Acute Leukemia 58 0.125
191
CHL014 Cholera 55 0.125
192
P GLY013 Glycogen Storage Disease 59 0.125
193
URT049 Urate Oxidase, Pseudogene 25 0.125
194
c BDY007 Body Mass Index Quantitative Trait Locus 1 42 0.125
195
INS024 Insulin-Like Growth Factor I 79 0.125
196
BLR008 Bilirubin Metabolic Disorder 57 0.124
197
c VRL010 Viral Hepatitis 51 0.124
198
P ART021 Arteriosclerosis 54 0.123
199
c DNT047 Dentinogenesis Imperfecta Type 2 33 0.123
200
LGH007 Leigh Syndrome 70 0.123
201
SRC014 Sarcoma 65 0.123
202
SPN035 Spindle Cell Sarcoma 51 0.123
203
P THL005 Thalassemia 60 0.123
204
MLR004 Malaria 80 0.122
205
SPN186 Spinal Cord Injury 60 0.122
206
P MNN013 Meningitis 65 0.122
207
ADL002 Adult Syndrome 69 0.122
208
P PRD008 Periodontitis 62 0.121
209
VTM002 Vitamin B12 Deficiency 48 0.121
210
c DWL002 Dowling-Degos Disease 1 58 0.121
211
CHL004 Cholelithiasis 49 0.120
212
ATX019 Ataxia with Vitamin E Deficiency 48 0.120
213
AGN016 Aging 56 0.120
214
c ACT134 Acute Liver Failure 51 0.119
215
P SCL009 Sclerosing Cholangitis 47 0.119
216
c SYS001 Systemic Lupus Erythematosus 86 0.119
217
P RHM011 Rheumatoid Arthritis 80 0.118
218
P DYS154 Dystonia 65 0.117
219
AST005 Asthma 77 0.117
220
P RSP003 Respiratory Failure 74 0.116
221
P TRM003 Tremor 53 0.116
222
KRT009 Keratosis 53 0.116
223
P LYM118 Lymphoma 68 0.116
224
P HPT021 Hepatitis 67 0.115
225
c MLG068 Malignant Glioma 45 0.115
226
CHL123 Chlamydia 59 0.115
227
RCK004 Rickets 69 0.115
228
BRN028 Brain Cancer 73 0.115
229
c ACT068 Acute Cystitis 63 0.114
230
STM007 Stomatitis 49 0.114
231
P ART022 Arthritis 70 0.114
232
c ATR087 Atrial Standstill 1 74 0.114
233
P DBT085 Diabetes Mellitus, Insulin-Dependent 67 0.114
234
MSC157 Muscular Dystrophy, Duchenne Type 71 0.113
235
P SCH015 Schizophrenia 75 0.112
236
HNS001 Hansen's Disease 34 0.112
237
P LPR021 Leprosy 3 67 0.112
238
P PLY019 Polyneuropathy 56 0.112
239
MYL009 Myelodysplastic Syndrome 70 0.112
240
c CHL119 Cholangitis, Primary Sclerosing 57 0.111
241
c HPT001 Hepatitis C 63 0.110
242
c CNG027 Congenital Hemolytic Anemia 40 0.110
243
DNT012 Dental Caries 51 0.110
244
c MGR028 Migraine with or Without Aura 1 69 0.110
245
P MLT020 Multiple Sclerosis 72 0.110
246
THR024 Thrombosis 56 0.110
247
P OVR082 Overgrowth Syndrome 50 0.110
248
RHM027 Rheumatic Disease 56 0.110
250
MLN008 Melanoma 69 0.109
251
HYP005 Hypokalemia 55 0.109
252
P GCH001 Gaucher's Disease 64 0.108
253
P RTN024 Retinoblastoma 72 0.108
254
BRN004 Brain Edema 55 0.108
255
c FML008 Familial Retinoblastoma 53 0.108
256
CHL065 Cholangiocarcinoma 67 0.108
257
ERY051 Erythroleukemia, Familial 56 0.108
258
P MCR115 Microvascular Complications of Diabetes 5 66 0.108
259
SPP010 Suppressor of Tumorigenicity 3 51 0.107
260
SPL018 Splenomegaly 48 0.107
261
INT079 Intrahepatic Cholangiocarcinoma 50 0.107
262
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 66 0.106
263
CLN015 Colon Adenocarcinoma 63 0.106
264
P MSC003 Muscular Atrophy 52 0.106
265
c PLM164 Pulmonary Hypertension, Primary, 1 75 0.105
266
DBT010 Diabetic Neuropathy 55 0.105
267
c THR092 Thrombophilia Due to Thrombin Defect 73 0.105
268
PLM010 Pulmonary Edema 55 0.105
269
VCC001 Vaccinia 49 0.105
270
MTC005 Mitochondrial Metabolism Disease 48 0.105
271
P GLM007 Glomerulonephritis 57 0.105
272
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25 0.105
273
KRN002 Kearns-Sayre Syndrome 63 0.104
274
CRD132 Cardiac Conduction Defect 59 0.104
275
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.104
276
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 61 0.104
277
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 66 0.104
278
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 0.103
279
P THR014 Thrombocytopenia 68 0.103
280
NPH091 Nephrolithiasis, Calcium Oxalate 66 0.103
281
ACQ007 Acquired Immunodeficiency Syndrome 60 0.103
282
BTN004 Biotin Deficiency 38 0.102
283
P GLM040 Glioma Susceptibility 1 81 0.102
284
ESP021 Esophageal Cancer 90 0.101
285
P PRP029 Porphyria 62 0.101
286
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.101
287
P BRS044 Breast Adenocarcinoma 59 0.101
288
DPH001 Diphtheria 60 0.100
289
SVR004 Severe Combined Immunodeficiency 73 0.100
290
P LKM062 Leukemia, Acute Lymphoblastic 68 0.100
291
P LPS004 Lupus Erythematosus 61 0.100
292
P LNG064 Lung Cancer Susceptibility 3 77 0.099
293
ORL011 Oral Cancer 60 0.099
294
TTN003 Tetanus 64 0.099
295
BRN024 Bronchitis 68 0.099
296
P RHN004 Rhinitis 57 0.099
297
P PLM037 Pulmonary Hypertension 68 0.099
298
PRS045 Prostatic Hypertrophy 52 0.098
299
P AST007 Astrocytoma 50 0.098
300
GST045 Gastroenteritis 59 0.098
301
MDD011 Mood Disorder 62 0.098
302
CNG017 Congenital Nonspherocytic Hemolytic Anemia 33 0.098
303
P RNL007 Renal Tubular Acidosis 50 0.098
304
MST005 Mastitis 53 0.098
305
CLF027 Cleft Palate, Isolated 64 0.098
306
P PNM007 Pneumonia 68 0.098
307
P ECL001 Eclampsia 51 0.098
308
PPL022 Papilloma 54 0.098
309
P SCK005 Sickle Cell Disease 50 0.098
310
P ALC033 Alcohol Use Disorder 58 0.098
311
MTH071 Methane Production 26 0.098
312
GTR002 Goiter 52 0.097
313
P DMN002 Dementia 67 0.097
314
P MCR010 Microcephaly 58 0.097
315
P PHC003 Pheochromocytoma 71 0.096
316
GST033 Gestational Diabetes 57 0.096
317
ADR040 Adrenal Gland Pheochromocytoma 46 0.095
318
CND006 Candida Glabrata 32 0.095
319
CLR108 Colorectal Adenoma 64 0.095
320
KRT002 Keratomalacia 48 0.095
321
ANG054 Angina Pectoris 66 0.095
322
ACR006 Aceruloplasminemia 73 0.094
323
P INF038 Influenza 68 0.094
324
SQM002 Squamous Cell Papilloma 42 0.094
325
SCK003 Sickle Cell Anemia 72 0.094
326
ANR007 Anorexia Nervosa 63 0.094
327
P FBR017 Fibrosarcoma 56 0.094
328
P MTC133 Mitochondrial Myopathy 49 0.094
329
HDN002 Head Injury 45 0.093
330
CNS004 Constipation 57 0.093
331
CYS013 Cystinuria 62 0.093
332
P MYC084 Mycobacterium Tuberculosis 1 68 0.092
333
c DLT002 Dilated Cardiomyopathy 79 0.092
334
P MYC008 Myocarditis 59 0.092
335
LYM019 Lymphosarcoma 47 0.092
336
OBS525 Obsolete: Squamous Cell Carcinoma of Head and Neck 57 0.092
337
P ART023 Arthropathy 62 0.091
338
PRP027 Peripheral Vascular Disease 71 0.091
339
RYS001 Reye Syndrome 51 0.091
340
TRN015 Transient Cerebral Ischemia 62 0.091
341
CRT015 Carotid Artery Occlusion 44 0.091
342
ORL015 Oral Squamous Cell Carcinoma 43 0.091
343
c HMC039 Hemochromatosis, Type 1 74 0.091
344
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 50 0.091
345
c GCH015 Gaucher Disease, Type I 70 0.090
346
c SPN225 Spondyloarthropathy 1 73 0.090
347
EYD002 Eye Disease 58 0.090
348
DBT084 Diabetes Mellitus, Ketosis-Prone 59 0.090
349
PST092 Posttransplant Acute Limbic Encephalitis 29 0.090
350
P HYD006 Hydrocephalus 65 0.089
351
P EXN002 Exanthem 57 0.089
352
P NSP012 Nasopharyngeal Carcinoma 67 0.089
353
PRS021 Prostatic Adenoma 51 0.089
354
WST001 West Syndrome 60 0.089
355
MSC007 Muscle Hypertrophy 63 0.089
356
c HPT016 Hepatitis B 59 0.088
357
P CNR004 Cone-Rod Dystrophy 2 71 0.088
358
ALL003 Allergic Rhinitis 67 0.087
359
P OBS001 Obstructive Jaundice 48 0.087
360
c FNC043 Fanconi Anemia, Complementation Group E 62 0.087
361
DHY010 Dihydrolipoamide Dehydrogenase Deficiency 44 0.087
362
TBR011 Tuberculous Meningitis 48 0.087
363
CTR172 Citrullinemia, Classic 64 0.087
364
IRR002 Irritable Bowel Syndrome 63 0.087
365
IDP011 Idiopathic Interstitial Pneumonia 63 0.086
366
P PLM036 Pulmonary Fibrosis 61 0.086
367
PRS129 Prostatic Hyperplasia, Benign 49 0.086
368
P FRD001 Friedreich Ataxia 63 0.086
369
P TYR004 Tyrosinemia 58 0.086
370
HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 53 0.086
371
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 47 0.086
372
P KDN017 Kidney Cancer 61 0.086
373
ENT004 Enthesopathy 48 0.086
374
GST040 Gastric Adenocarcinoma 70 0.086
375
END057 Endometrial Cancer 74 0.086
376
ACN002 Acanthosis Nigricans 60 0.085
377
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.085
378
P PRK057 Parkinson Disease, Late-Onset 76 0.085
379
P TRC086 Trichohepatoenteric Syndrome 1 59 0.085
380
DSS009 Disseminated Intravascular Coagulation 57 0.085
381
c ATM011 Autoimmune Hepatitis 62 0.085
382
PRP001 Propionic Acidemia 66 0.084
383
TRN018 Transitional Cell Carcinoma 56 0.084
384
P HDC001 Headache 57 0.084
385
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 65 0.084
386
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 55 0.084
387
P ACT008 Actinic Keratosis 52 0.084
388
IRN001 Iron Deficiency Anemia 58 0.084
389
RNL077 Renal Fibrosis 47 0.083
390
RFS006 Refsum Disease, Classic 63 0.083
391
P ATX030 Ataxia-Telangiectasia 83 0.082
392
P END044 Endometriosis 62 0.082
393
P BNG032 Benign Mesothelioma 45 0.082
394
ARG004 Argyria 28 0.082
395
NRM005 Neuromuscular Disease 63 0.082
396
c LKM071 Leukemia, Chronic Lymphocytic 79 0.082
397
SPP011 Suppression of Tumorigenicity 12 59 0.082
398
NNT012 Neonatal Jaundice 53 0.082
399
P HYP098 Hypereosinophilic Syndrome 66 0.081
400
P NPH012 Nephrotic Syndrome 63 0.081
401
c SVR001 Severe Acute Respiratory Syndrome 55 0.081
402
LSH001 Leishmaniasis 63 0.081
403
P KLZ004 Kala-Azar 1 41 0.081
404
CRC021 Carcinosarcoma 61 0.081
405
RTN023 Retinitis 46 0.081
406
NRR001 Neuroretinitis 43 0.081
407
c BTT014 Beta-Thalassemia 72 0.081
408
P ADL010 Adult Respiratory Distress Syndrome 63 0.081
409
FDL002 Food Allergy 49 0.080
410
P RTN016 Retinal Degeneration 53 0.080
411
THY030 Thyroid Gland Disease 51 0.080
412
OTT002 Otitis Media 71 0.080
413
P HYP061 Hypertrophic Cardiomyopathy 66 0.080
414
MNN042 Meningioma, Radiation-Induced 62 0.080
415
c MNN043 Meningioma, Familial 74 0.079
416
SPN021 Spinal Meningioma 47 0.079
417
SCR001 Secretory Meningioma 37 0.079
418
LYM002 Lymphoplasmacyte-Rich Meningioma 36 0.079
419
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51 0.079
420
P CHR071 Charcot-Marie-Tooth Disease 64 0.079
421
TTH006 Tooth Disease 46 0.079
422
c PNS012 Paine Syndrome 61 0.079
423
MXD026 Mixed Glioma 45 0.079
424
P RTN008 Retinitis Pigmentosa 77 0.078
425
PLY150 Polykaryocytosis Inducer 31 0.078
426
THR013 Thoracic Outlet Syndrome 53 0.078
427
BRK010 Burkitt Lymphoma 67 0.078
428
P RHB003 Rhabdomyosarcoma 62 0.078
429
VSC002 Vascular Dementia 57 0.077
430
CRB037 Cerebral Palsy 68 0.077
431
P URT039 Urticaria 58 0.077
432
c ATS307 Autosomal Recessive Cerebellar Ataxia 41 0.077
433
c EPS039 Episodic Pain Syndrome, Familial, 1 40 0.077
434
c SCL052 Scleroderma, Familial Progressive 62 0.076
435
P FTL001 Fetal Alcohol Syndrome 55 0.075
436
MST004 Mast Cell Neoplasm 38 0.075
437
EXT007 Extracutaneous Mastocytoma 38 0.075
438
P ANR048 Aniridia 1 63 0.075
439
SPS057 Spasticity 41 0.075
440
P SYS005 Systemic Scleroderma 70 0.075
441
P HRD011 Hereditary Spherocytosis 60 0.075
442
HMG005 Hemoglobinopathy 55 0.075
443
P MDL005 Medulloblastoma 77 0.074
444
SCH014 Schistosomiasis 56 0.074
445
P PRM002 Primary Hyperoxaluria 62 0.074
446
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 39 0.074
447
KWS001 Kwashiorkor 45 0.074
448
GLC009 Glucosephosphate Dehydrogenase Deficiency 52 0.074
449
P INT068 Intestinal Disease 52 0.073
450
PNC001 Pancytopenia 54 0.073
451
ATX010 Ataxia Neuropathy Spectrum 38 0.073
452
ACT064 Acute Necrotizing Encephalitis 32 0.073
453
BLD137 Blood Group--Ahonen 19 0.073
454
SQM013 Squamous Cell Carcinoma, Head and Neck 80 0.073
455
TYP007 Typhoid Fever 63 0.073
456
P ANG001 Angelman Syndrome 67 0.072
457
TLN003 Telangiectasis 51 0.072
458
MCR013 Microphthalmia 60 0.072
459
INT323 Intraocular Pressure Quantitative Trait Locus 62 0.072
460
HYP690 Hyper-Beta-Alaninemia 24 0.072
461
P MVM001 Movement Disease 61 0.072
462
CHR066 Chronic Fatigue Syndrome 61 0.071
463
AMN003 Amnestic Disorder 54 0.071
464
PNC129 Pancreatic Adenocarcinoma 67 0.071
465
P OPT006 Optic Nerve Disease 57 0.070
466
PRV004 Periventricular Leukomalacia 51 0.070
467
P PLY018 Polycythemia 55 0.070
469
CRB090 Cerebral Hypoxia 43 0.070
470
GNG013 Gingivitis 59 0.070
471
P PLY014 Polycystic Kidney Disease 59 0.070
472
SBC016 Subacute Delirium 44 0.070
473
INT002 Intermittent Claudication 61 0.069
474
SLP001 Sleeping Sickness 48 0.069
475
AND002 Androgen Insensitivity Syndrome 66 0.069
476
DYS015 Dysentery 50 0.069
477
INT075 Intracranial Hypertension 53 0.069
478
EXT006 Extrahepatic Cholestasis 40 0.069
479
P END033 Endocarditis 57 0.068
480
HYP141 Hyperphenylalaninemia 38 0.068
481
CRD137 Cardiogenic Shock 48 0.068
482
RHM001 Rheumatic Fever 61 0.068
483
c HYP555 Hypertriglyceridemia, Transient Infantile 39 0.068
484
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 0.068
485
c BRN108 Branchiootic Syndrome 1 61 0.067
486
PLG002 Plague 57 0.067
487
P FBR031 Febrile Seizures 51 0.067
488
P UVT001 Uveitis 57 0.066
489
FBR047 Fibromyalgia 59 0.066
490
KPS004 Kaposi Sarcoma 75 0.066
491
ALK013 Alkaptonuria 58 0.066
492
PLC008 Placenta Disease 49 0.066
493
P MYC033 Myoclonus 46 0.066
494
c CHR682 Chronic Bilirubin Encephalopathy 38 0.066
495
CRB025 Carbohydrate Metabolic Disorder 44 0.066
496
P MTC004 Mitochondrial Encephalomyopathy 43 0.066
497
P RTN018 Retinal Disease 52 0.066
498
CRH005 Crohn's Colitis 52 0.066
499
c HNT011 Huntington Disease-Like 3 38 0.066
500
TRY001 Trypanosomiasis 50 0.066
501
HYP561 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness 28 0.065
502
PRP083 Porphyria, Acute Intermittent 63 0.065
503
DBT004 Diabetic Polyneuropathy 50 0.065
504
MYL005 Myelofibrosis 67 0.065
505
PPL049 Papillon-Lefevre Syndrome 63 0.065
506
PRP080 Peripheral Artery Disease 53 0.065
507
c GRV008 Graves Disease 1 55 0.065
508
CLR109 Colorectal Adenocarcinoma 50 0.065
509
P GLL022 Guillain-Barre Syndrome 59 0.064
510
ORG002 Organic Acidemia 43 0.064
511
SFT003 Soft Tissue Sarcoma 56 0.064
512
P PRS038 Personality Disorder 65 0.064
513
P MNC007 Monocytic Leukemia 54 0.064
514
BLD131 Bladder Urothelial Carcinoma 61 0.064
515
c ACT004 Acute Diarrhea 39 0.064
516
OVR094 Ovarian Epithelial Cancer 38 0.064
517
BRC012 Brucellosis 61 0.064
518
CYT008 Cytomegalovirus Infection 56 0.063
519
ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 63 0.063
520
CHC001 Chickenpox 60 0.063
521
CYN003 Cyanide Poisoning 24 0.063
522
c INF145 Infantile Liver Failure Syndrome 1 50 0.063
523
CHR178 Chromosomal Triplication 35 0.063
524
ILS001 Ileus 51 0.062
525
OBS524 Obsolete: Benign Exophthalmos Syndrome 15 0.062
526
PLS007 Plasmodium Falciparum Malaria 52 0.062
527
P CRB088 Cerebral Atrophy 38 0.062
528
HPT022 Hepatoblastoma 56 0.062
529
CHR100 Chronic Ulcer of Skin 53 0.062
530
ALC006 Alcoholic Hepatitis 61 0.061
531
HYP080 Hypogonadism 50 0.061
532
P OPN001 Open-Angle Glaucoma 49 0.061
533
ART001 Arterial Tortuosity Syndrome 66 0.061
534
P ALP106 Alport Syndrome 1, X-Linked 55 0.061
535
P TXP001 Toxoplasmosis 60 0.061
536
PTH003 Pathologic Nystagmus 51 0.061
537
NNT033 Neonatal Hypoxic and Ischemic Brain Injury 42 0.061
538
HYP064 Hypogonadotropism 40 0.061
539
P AXN002 Axenfeld-Rieger Syndrome 58 0.061
540
CRY019 Cryohydrocytosis 40 0.061
541
P PLL002 Pellagra 45 0.060
542
c MST023 Mesothelioma, Malignant 57 0.060
543
MSC190 Muscular Disease 51 0.060
544
DFF005 Diffuse Large B-Cell Lymphoma 56 0.060
545
SKN019 Skin Melanoma 67 0.060
546
c BCT007 Bacterial Meningitis 55 0.060
547
ALR002 Al-Raqad Syndrome 34 0.060
548
INT066 Interstitial Lung Disease 59 0.059
549
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 0.059
550
GLL018 Gallbladder Cancer 56 0.059
551
c SVR005 Severe Pre-Eclampsia 49 0.059
552
P NRV006 Nervous System Cancer 48 0.059
553
HPT082 Hepatic Adenomas, Familial 37 0.058
554
HNM002 Hinman Syndrome 29 0.058
555
ARG002 Argininosuccinic Aciduria 60 0.058
556
P MYS005 Myositis 56 0.058
557
TXC002 Toxic Encephalopathy 52 0.058
558
WLL004 Wallerian Degeneration 39 0.058
559
c ALP101 Alpha-Thalassemia 62 0.058
560
P SBS003 Substance Abuse 54 0.058
561
CYS010 Cystinosis 60 0.058
562
OBS168 Obsolete: Atypical Teratoid/rhabdoid Tumor 22 0.058
563
ART016 Aortic Aneurysm 68 0.058
564
YLL002 Yellow Fever 60 0.058
565
DWR001 Dwarfism 44 0.058
566
ADP007 Adie Pupil 39 0.058
567
LWC002 Lowe Oculocerebrorenal Syndrome 66 0.058
568
c CNT033 Central Nervous System Cancer 46 0.058
569
P SJG008 Sjogren Syndrome 56 0.057
570
P VSC018 Visceral Steatosis 33 0.057
571
c OVR114 Ovarian Cancer 1 38 0.057
572
PHR003 Pharyngitis 56 0.057
573
LNT004 Lentigines 46 0.057
574
PLC005 Placental Insufficiency 57 0.056
575
P THY032 Thyroiditis 53 0.056
576
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61 0.056
577
P TRT010 Teratoma 51 0.056
578
SLR001 Sialuria 50 0.056
579
P CHR285 Chronic Myelomonocytic Leukemia 59 0.056
580
LMB062 Limb Ischemia 55 0.056
581
HYD038 Hydrops Fetalis, Nonimmune 61 0.056
582
P PLY041 Polymyositis 57 0.055
583
c MLG074 Malignant Mesenchymoma 39 0.055
584
END081 Endosteal Hyperostosis, Autosomal Dominant 59 0.055
585
MTC023 Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 33 0.055
586
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 65 0.055
587
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 52 0.055
588
c PRG106 Progressive Muscular Dystrophy 33 0.055
589
PFF001 Pfeiffer Syndrome 79 0.055
590
PRP016 Paraplegia 53 0.055
591
NCL007 Nuclear Gene-Encoded Leigh Syndrome 23 0.055
592
P TBR001 Tuberous Sclerosis 70 0.055
593
P ANG015 Angioedema 54 0.055
594
P LRY044 Larynx Cancer 54 0.055
595
P RNL115 Renal Tubular Acidosis, Proximal 31 0.054
596
RTN003 Retinal Ischemia 50 0.054
597
P MYT002 Myotonic Dystrophy 49 0.054
598
c EXD008 Exudative Vitreoretinopathy 1 69 0.054
599
ALX003 Alexander Disease 61 0.054
600
GLB001 Gilbert Syndrome 57 0.054
601
LPR001 Lepromatous Leprosy 50 0.054
602
LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59 0.053
603
PRD004 Prediabetes Syndrome 47 0.053
604
GNT167 Genetic Obesity 34 0.053
605
ATN005 Autonomic Dysfunction 47 0.053
606
PYR016 Pyridoxine Deficiency 30 0.053
607
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.053
608
MLT018 Multiple Carboxylase Deficiency 45 0.053
609
P SPR120 Supranuclear Palsy, Progressive, 1 68 0.053
610
CMR002 Coumarin Resistance 56 0.053
611
THY122 Thyroid Gland Cancer 58 0.053
612
P BLR006 Biliary Tract Disease 46 0.053
613
P CTR177 Citrullinemia, Type Ii, Adult-Onset 46 0.052
614
c ART138 Aortic Aneurysm, Familial Abdominal, 1 60 0.052
615
BRN002 Bronchiolitis 59 0.052
616
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 58 0.051
617
c THY109 Thyroid Cancer, Nonmedullary, 1 55 0.051
618
CMB003 Combined T Cell and B Cell Immunodeficiency 52 0.051
619
THR004 Thrombocytosis 51 0.051
620
RFR010 Refractory Anemia 48 0.051
621
RTN193 Retinitis Pigmentosa and Erythrocytic Microcytosis 52 0.051
622
SPN050 Spinocerebellar Degeneration 41 0.051
623
SCR015 Scarlet Fever 40 0.051
624
DCB001 Decubitus Ulcer 60 0.051
625
CLR030 Clear Cell Renal Cell Carcinoma 53 0.051
626
HRT012 Heart Valve Disease 53 0.051
627
P SYP003 Syphilis 59 0.051
628
RHM028 Rheumatic Heart Disease 53 0.051
629
P PTS002 Ptosis 52 0.050
630
c GLY060 Glycogen Storage Disease Ia 61 0.050
631
P MLG056 Malignant Hyperthermia 67 0.050
632
SPR126 Superior Semicircular Canal Dehiscence 40 0.050
633
c HMG029 Hemoglobin Se Disease 38 0.050
634
PNM008 Pneumothorax 56 0.050
635
RTN020 Retinal Vascular Disease 48 0.050
636
BRS051 Breast Disease 58 0.050
637
NWB001 Newborn Respiratory Distress Syndrome 58 0.050
638
AMN001 Amenorrhea 54 0.050
639
SNS003 Sensory Peripheral Neuropathy 53 0.050
640
LRN003 Learning Disability 49 0.050
641
P MTH007 Methemoglobinemia 46 0.050
642
MTC097 Mitochondrial Complex Iv Deficiency 56 0.049
643
OBS002 Obsessive-Compulsive Disorder 68 0.049
644
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 60 0.049
645
RST023 Resting Heart Rate, Variation in 41 0.049
646
CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 64 0.049
647
P EPD016 Epidermolysis Bullosa 53 0.049
648
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 48 0.049
649
P KRN004 Kernicterus 47 0.048
650
P HYP769 Hyperlysinemia, Type I 43 0.048
651
DBT007 Diabetic Cataract 39 0.048
652
CRP001 Carpal Tunnel Syndrome 67 0.048
653
P SBR004 Seborrheic Dermatitis 45 0.048
654
EPL050 Epilepsy, Partial, with Pericentral Spikes 25 0.048
655
P LMY004 Leiomyosarcoma 62 0.048
656
P SDR003 Sideroblastic Anemia 49 0.048
657
MTB016 Metabolic Myopathy 33 0.048
658
INC002 Inclusion Body Myositis 64 0.048
659
P ATS308 Autosomal Dominant Cerebellar Ataxia 60 0.048
660
c BLD140 Blood Group, I System 30 0.048
661
FMR004 Fumarase Deficiency 41 0.048
662
PLN001 Plantar Wart 35 0.048
663
PLY001 Polycythemia Vera 69 0.047
664
P DRM010 Dermatomyositis 61 0.047
665
HRP004 Herpes Zoster 60 0.047
666
LPT001 Leptospirosis 66 0.047
667
AMB001 Amebiasis 49 0.047
668
TST044 Testicular Torsion 47 0.047
669
c HYP794 Hyperoxaluria, Primary, Type I 48 0.047
670
UND005 Undifferentiated Pleomorphic Sarcoma 66 0.047
671
FLR002 Filariasis 55 0.047
672
c TBR025 Tuberous Sclerosis 1 76 0.046
673
c HRD002 Hereditary Angioedema 61 0.046
674
ALP077 Alpha-Methylacetoacetic Aciduria 56 0.046
675
P EST001 Estrogen-Receptor Positive Breast Cancer 49 0.046
676
EPD015 Epidemic Typhus 46 0.046
677
HLC001 Holocarboxylase Synthetase Deficiency 48 0.046
678
BTM003 Beta-Aminoisobutyric Aciduria 20 0.046
679
LNG015 Lingual-Facial-Buccal Dyskinesia 47 0.046
680
BLR013 Biliary Tract Cancer 42 0.046
681
P CHR012 Chronic Granulomatous Disease 67 0.046
682
P CRB210 Cerebrofacial Arteriovenous Metameric Syndrome 28 0.046
683
c CHR095 Chronic Progressive External Ophthalmoplegia 46 0.045
684
P APL001 Aplastic Anemia 74 0.045
685
P BLD062 Bile Duct Cancer 65 0.045
687
MRS001 Marasmus 43 0.045
688
ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 55 0.045
689
P MTR003 Mitral Valve Stenosis 50 0.045
690
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 50 0.045
691
MYC088 Mycobacterium Avium Complex Infections 29 0.045
692
CNV004 Canavan Disease 60 0.045
693
P ANT006 Antiphospholipid Syndrome 54 0.045
694
DFF036 Differentiated Thyroid Carcinoma 51 0.045
695
c 3MT015 3-Methylglutaconic Aciduria, Type I 51 0.045
696
PNC034 Pancreas Disease 46 0.045
697
BRN032 Brain Glioma 43 0.045
698
APR001 Apraxia 51 0.045
699
SPS003 Spastic Diplegia 50 0.045
700
END062 Endometrial Hyperplasia 48 0.045
701
CLS047 Classic Progressive Supranuclear Palsy Syndrome 30 0.045
702
TYR015 Tyrosinosis 19 0.045
703
GST037 Gastroparesis 53 0.044
704
BRN014 Bronchopneumonia 50 0.044
705
c PNC106 Pancreatic Agenesis 1 50 0.044
706
GRW007 Growth Hormone Deficiency 43 0.044
707
PLY100 Polyploidy 40 0.044
708
GLC006 Galactosemia 65 0.044
709
BBS001 Babesiosis 48 0.044
710
TNG009 Tongue Squamous Cell Carcinoma 44 0.044
711
HYP264 Hypertonia 38 0.044
712
GLL008 Gilles De La Tourette Syndrome 66 0.044
713
P CNT110 Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a 60 0.044
714
TRC003 Trichomoniasis 52 0.044
715
HMG002 Hemoglobinuria 49 0.044
716
c PRM015 Primary Cerebellar Degeneration 36 0.043
717
AND005 Androgen Insensitivity Syndrome, Mild 22 0.043
718
CRY003 Cryptosporidiosis 54 0.043
719
PDG002 Pdgfrb-Associated Chronic Eosinophilic Leukemia 27 0.043
720
BTN003 Biotinidase Deficiency 60 0.043
721
MTC015 Mitochondrial Dna-Associated Leigh Syndrome and Narp 24 0.043
722
PRD026 Pre-Descemet Corneal Dystrophy 18 0.043
723
P TYS001 Tay-Sachs Disease 68 0.043
724
INT030 Intracranial Aneurysm 56 0.043
725
HMP005 Hemiplegia 54 0.043
726
CRT013 Carotid Stenosis 50 0.043
727
CRV040 Cervix Carcinoma 50 0.043
728
VRC001 Varicocele 49 0.043
729
c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 36 0.043
730
MYC005 Myocardial Stunning 46 0.042
731
c MTC060 Mitochondrial Dna Depletion Syndrome 9 48 0.042
732
c TYR012 Tyrosinemia, Type I 67 0.042
733
THY121 Thyroid Gland Anaplastic Carcinoma 63 0.042
734
GLY010 Glycine Encephalopathy 60 0.042
735
RSP019 Respiratory Distress Syndrome in Premature Infants 57 0.042
736
c LKM070 Leukemia, Acute Monocytic 53 0.042
737
P MYG005 Myoglobinuria 43 0.042
738
ENC005 Encephalomalacia 38 0.042
739
GRD001 Giardiasis 45 0.042
740
BCT021 Bacterial Sepsis 44 0.042
741
HMN035 Hemangioma-Thrombocytopenia Syndrome 41 0.042
742
PCK003 Pick Disease of Brain 68 0.041
743
NRF007 Neurofibroma 64 0.041
744
RYN005 Raynaud Phenomenon 46 0.041
745
TRC008 Trachoma 53 0.041
746
SYN036 Syncope 45 0.041
747
PCH007 Pouchitis 39 0.041
748
P NRM002 Normal Pressure Hydrocephalus 56 0.041
749
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 55 0.041
750
P HYP730 Hypogonadotropic Hypogonadism 53 0.041
751
TRC120 Tricarboxylic Acid Cycle, Defect of 16 0.041
752
ABT001 Abetalipoproteinemia 67 0.040
753
P PTY003 Pityriasis Rubra Pilaris 58 0.040
754
ARG007 Argininemia 57 0.040
755
MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 32 0.040
756
c LCL006 Localized Scleroderma 62 0.040
757
c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 56 0.040
758
ACT200 Acute Monoblastic Leukemia 55 0.040
759
BRT005 Barth Syndrome 53 0.040
760
QDR001 Quadriplegia 48 0.040
761
KLB003 Klebsiella Pneumonia 39 0.040
762
c MLT156 Multiple Endocrine Neoplasia, Type I 71 0.039
763
ATR057 Atrioventricular Block 55 0.039
764
CYS005 Cysticercosis 54 0.039
765
ORN001 Ornithosis 39 0.039
766
BRR002 Barrett's Adenocarcinoma 35 0.039
767
MSC152 Muscular Dystrophy, Becker Type 63 0.039
768
WRN003 Wernicke Encephalopathy 47 0.039
769
NRN002 Neuronitis 33 0.039
770
BLM001 Bloom Syndrome 66 0.039
771
P TTR001 Tetralogy of Fallot 69 0.038
772
P LYM033 Lymphoproliferative Syndrome 60 0.038
773
SYS003 Systolic Heart Failure 50 0.038
774
BHR001 Behr Syndrome 49 0.038
775
P CRB059 Cerebellar Degeneration 37 0.038
776
ORN004 Ornithinemia 17 0.038
777
GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 37 0.038
778
CRB009 Cerebritis 36 0.038
779
LYM017 Lyme Disease 63 0.038
780
NRM022 Neurometabolic Disease 25 0.038
781
P MCH002 Machado-Joseph Disease 63 0.037
782
c ANM038 Anemia, Autoimmune Hemolytic 61 0.037
783
P ANP001 Anaplastic Large Cell Lymphoma 61 0.037
784
P FTL069 Fetal Akinesia Deformation Sequence 1 56 0.037
785
MDS022 Mediastinitis 47 0.037
786
CMP002 Campylobacteriosis 46 0.037
787
P CRV039 Cervicitis 45 0.037
788
P DMY001 Demyelinating Polyneuropathy 41 0.037
789
c HMG001 Hemoglobin C Disease 40 0.037
790
PNT003 Pinta Disease 31 0.037
791
IMM162 Immunoglobulin E Concentration, Serum 28 0.037
792
P ERL057 Early Infantile Epileptic Encephalopathy 62 0.037
793
P CNG003 Congenital Dyserythropoietic Anemia 50 0.037
794
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 47 0.037
795
ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 37 0.037
796
c PRM012 Primary Polycythemia 52 0.036
797
FLR001 Filarial Elephantiasis 50 0.036
798
P CRV031 Cervical Adenocarcinoma 47 0.036
799
FBR019 Fibromatosis 44 0.036
800
RSP007 Respiratory Distress Syndrome, Infant 30 0.036
801
MYC016 Mycobacterium Gordonae 21 0.036
802
P PTT014 Pitt-Hopkins Syndrome 60 0.036
803
P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 58 0.036
804
c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 55 0.036
805
WRN002 Wernicke-Korsakoff Syndrome 49 0.036
806
ANH002 Anhidrosis 46 0.036
807
HYP187 Hypertryptophanemia 27 0.036
808
ECH003 Echinococcosis 53 0.035
809
P OVR049 Ovarian Disease 53 0.035
810
c TYR013 Tyrosinemia, Type Ii 46 0.035
811
LCK001 Locked-in Syndrome 46 0.035
812
P SDR002 Siderosis 44 0.035
813
ART008 Arteriosclerosis Obliterans 40 0.035
814
P PRG013 Paraganglioma 52 0.035
815
ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 49 0.035
816
ACT098 Acute Erythroid Leukemia 48 0.035
817
HYP082 Hypopharynx Cancer 47 0.035
818
ALC005 Alcoholic Pancreatitis 39 0.035
819
3HY010 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 34 0.035
820
HPT085 Hepatitis, Fulminant Viral 32 0.035
821
BLD163 Blood Group, Dombrock System 26 0.034
822
P RRN010 Rare Neurodegenerative Disease 20 0.034
823
P HRD012 Hereditary Elliptocytosis 51 0.034
824
c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 42 0.034
825
ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 24 0.034
826
P ACR001 Aicardi-Goutieres Syndrome 65 0.034
827
P LPS002 Liposarcoma 65 0.034
828
P TST021 Testicular Germ Cell Tumor 61 0.034
829
CRB150 Cerebral Creatine Deficiency Syndrome 2 52 0.034
830
c ACR116 Aicardi-Goutieres Syndrome 1 51 0.034
831
FCL012 Facial Paralysis 48 0.034
832
CRB196 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 43 0.034
833
C1N001 C1 Inhibitor Deficiency 40 0.034
834
FLL031 Follicular Adenoma 39 0.034
835
P AXN001 Axonal Neuropathy 36 0.034
836
BRK012 Broken Heart Syndrome 35 0.034
837
KLB004 Klebsiella Infection 27 0.034
838
PLL001 Pallister-Hall Syndrome 64 0.033
839
P SHR029 Short Syndrome 57 0.033
840
UMB002 Umbilical Hernia 47 0.033
841
P VTL001 Vitelliform Macular Dystrophy 45 0.033
842
DBT090 Diabetes and Deafness, Maternally Inherited 45 0.033
843
c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 44 0.033
844
SPL006 Splenic Infarction 37 0.033
845
CYT014 Cytochrome P450 Oxidoreductase Deficiency 33 0.033
846
HRD218 Hereditary Stomatocytosis 31 0.033
847
PRX097 Paroxysmal Dystonia 31 0.033
848
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 67 0.033
849
MNN020 Meningococcal Infection 45 0.033
850
HYP026 Hypoglycemic Coma 38 0.033
851
MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 35 0.033
852
PLR005 Pleuropneumonia 32 0.033
853
P EPD003 Epidermolysis Bullosa Simplex 56 0.032
855
THR012 Thoracic Cancer 44 0.032
856
SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 54 0.031
857
DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 43 0.031
858
PSD001 Pseudobulbar Palsy 40 0.031
859
PPC001 Pepck 1 Deficiency 34 0.031
860
SRC009 Sarcomatosis 31 0.031
861
CNJ001 Conjugate Gaze Palsy 30 0.031
862
ACT239 Acetyl-Coa Acetyltransferase-2 Deficiency 24 0.031
863
LPY002 Lipoyltransferase 1 Deficiency 23 0.031
864
PNS018 Pain Sensitivity Quantitative Trait Locus 1 23 0.031
865
c LCT020 Lactic Acidosis, Chronic Adult Form 8 0.031
866
CNT097 Central Hypoventilation Syndrome, Congenital 70 0.031
867
P MLN066 Melanoma, Cutaneous Malignant 1 70 0.031
868
P RST002 Restrictive Cardiomyopathy 56 0.031
869
ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 53 0.031
870
ONC002 Onchocerciasis 51 0.031
871
PNC013 Pancreatic Ductal Carcinoma 47 0.031
872
GLC022 Glucose/galactose Malabsorption 45 0.031
873
THY006 Thymus Lymphoma 26 0.031
874
PRS119 Persistent Genital Arousal Disorder 18 0.031
875
FRC013 Fructose Utilization 15 0.031
876
P AGN002 Agnosia 54 0.030
877
P HYP050 Hyperinsulinemic Hypoglycemia 54 0.030
878
ANL022 Anal Fistula 47 0.030
879
CLN003 Clonorchiasis 43 0.030
880
BSL008 Basal Ganglia Disease 43 0.030
881
DXR001 Doxorubicin Induced Cardiomyopathy 33 0.030
882
c CHR085 Chronic Cervicitis 28 0.030
883
MYC079 Myoclonic Epilepsy of Lafora 64 0.029
884
MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 59 0.029
885
FNC009 Fanconi-Bickel Syndrome 56 0.029
886
P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 38 0.029
887
OCL015 Oculomotor Apraxia 35 0.029
888
MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 33 0.029
889
c THM013 Thiamine Metabolism Dysfunction Syndrome 5 30 0.029
890
PRG074 Progressive Myoclonus Epilepsy, Lafora Type 29 0.029
891
c INT072 Intestinal Pseudo-Obstruction 56 0.029
892
GLC024 Glucose Transporter Type 1 Deficiency Syndrome 40 0.029
893
PCD001 Pica Disease 37 0.029
894
c DMN005 Diamond-Blackfan Anemia 2 23 0.029
895
c PRG042 Progressive Familial Heart Block, Type Ia 67 0.028
896
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 61 0.028
897
c GLY003 Glycogen Storage Disease Iii 58 0.028
898
c GLY011 Glycogen Storage Disease Vii 55 0.028
899
FCT004 Factor Xii Deficiency 54 0.028
900
P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 53 0.028
901
c MLG069 Malignant Hypertension 47 0.028
902
MLG086 Malignant Hyperthermia Susceptibility 41 0.028
903
c LYM150 Lymphatic Malformation 7 41 0.028
904
GRC001 Gracile Syndrome 40 0.028
905
HYP784 Hypogonadism, Male 39 0.028
906
P HRD217 Hereditary Optic Neuropathy 34 0.028
907
BLD052 Blood Group Incompatibility 32 0.028
908
MTY003 Mutyh Polyposis 29 0.028
909
MNK001 Menkes Disease 64 0.026
910
P LRS001 Larsen Syndrome 62 0.026
911
P EPS003 Episodic Ataxia 60 0.026
912
c PRG043 Progressive Familial Heart Block, Type Ib 58 0.026
913
c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56 0.026
914
P HMG032 Hemoglobin H Disease 52 0.026
915
MYC012 Mycetoma 49 0.026
916
CRB151 Cerebral Creatine Deficiency Syndrome 1 48 0.026
917
P PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 48 0.026
918
PLC003 Placental Site Trophoblastic Tumor 48 0.026
919
PRS127 Pearson Marrow-Pancreas Syndrome 47 0.026
920
CYC008 Cyclic Vomiting Syndrome 47 0.026
921
c SPR009 Sporadic Breast Cancer 45 0.026
922
c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 44 0.026
923
SPS004 Spastic Quadriplegia 42 0.026
924
c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 42 0.026
925
DYS032 Dystrophinopathies 41 0.026
926
c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 40 0.026
927
ELP001 Elephantiasis 40 0.026
928
c MYG007 Myoglobinuria, Recurrent 36 0.026
929
HLT002 Halothane Hepatitis 33 0.026
930
FMR011 Fumarate Hydratase Deficiency 30 0.026
931
HYP029 Hyperthyroxinemia 29 0.026
932
IMM039 Immune Hydrops Fetalis 28 0.026
933
MYC018 Mycobacterium Malmoense 26 0.026
934
PTR034 Paternal Uniparental Disomy 23 0.026
935
BLD165 Blood Group, Colton System 23 0.026
936
P JBR020 Joubert Syndrome 1 72 0.024
937
SVR066 Severe Combined Immunodeficiency, X-Linked 65 0.024
938
c GLY005 Glycogen Storage Disease Vi 51 0.024
939
c ACT076 Acute Myocarditis 46 0.024
940
c XLN110 X-Linked Charcot-Marie-Tooth Disease 43 0.024
941
P ALK015 Alk-Positive Anaplastic Large Cell Lymphoma 40 0.024
942
c ERL056 Early-Onset Parkinson's Disease 39 0.024
943
MTH026 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase 36 0.024
944
KDN013 Kidney Hypertrophy 34 0.024
945
CRB137 Cerebral Creatine Deficiency Syndrome 33 0.024
946
PRX035 Paroxysmal Dyskinesia 31 0.024
947
ISL119 Isolated Optic Neuritis 30 0.024
948
PDT027 Pediatric Ulcerative Colitis 28 0.024
949
RGH009 Right Atrial Isomerism 60 0.022
950
PLM070 Pulmonic Stenosis 57 0.022
951
P EPS030 Episodic Kinesigenic Dyskinesia 1 53 0.022
952
PLY024 Polymicrogyria 49 0.022
953
RGH001 Right Bundle Branch Block 47 0.022
955
FRS012 First-Degree Atrioventricular Block 41 0.022
956
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.022
957
EST004 Estrogen Excess 40 0.022
958
P SPS008 Spastic Ataxia 40 0.022
959
c PRX088 Paroxysmal Nonkinesigenic Dyskinesia 1 39 0.022
960
c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 39 0.022
961
HYP835 Hypothalamic Obesity 38 0.022
962
SPN331 Spondyloocular Syndrome 37 0.022
963
MTG002 Mutagen Sensitivity 36 0.022
964
c THY084 Thyrotoxic Periodic Paralysis 1 35 0.022
965
EMY001 Eumycotic Mycetoma 34 0.022
966
TRG019 Trigonocephaly with Short Stature and Developmental Delay 34 0.022
967
CNS013 Constricting Bands, Congenital 34 0.022
968
c THY083 Thyrotoxic Periodic Paralysis 2 33 0.022
969
MYP097 Myopathy with Lactic Acidosis, Hereditary 32 0.022
970
P ACT241 Acute Bilirubin Encephalopathy 31 0.022
971
P TTH010 Tooth Agenesis, Selective, 1 27 0.022
972
CRB089 Cerebral Beriberi 20 0.022
973
CRB155 Carbonic Anhydrase Va Deficiency 19 0.022
974
ISN001 Isoniazid Toxicity 19 0.022
975
ACC008 Accelerated Tumor Formation 19 0.022
976
PHS027 Phosphoglycoprotein 1 14 0.022
977
DSR072 Disorder of Energy Metabolism 13 0.022
Content
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