Search results for Pyruvic acid

366 hits were found for Pyruvic acid

# Family MCID Name MIFTS Score
1
HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 22 6.570
2
LPC003 Lipoic Acid Synthetase Deficiency 12 3.483
3
PYR041 Pyruvate Kinase Deficiency of Red Cells 57 0.463
4
P HPT021 Hepatitis 76 0.279
5
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 51 0.257
6
P LKM002 Leukemia 72 0.255
7
P BRS047 Breast Cancer 100 0.249
8
P PRS040 Prostate Cancer 90 0.248
9
PYR037 Pyruvate Carboxylase Deficiency 38 0.240
10
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 91 0.229
11
PRM236 Primary Biliary Cholangitis 55 0.229
12
P PNC044 Pancreatitis 64 0.227
13
PRS047 Prostatitis 60 0.225
14
P PRM006 Primary Biliary Cirrhosis 53 0.224
15
c BLR024 Biliary Cirrhosis, Primary, 1 36 0.224
16
ISC004 Ischemia 65 0.221
17
END072 Endotheliitis 45 0.221
18
P HML002 Hemolytic Anemia 62 0.217
19
P CLR023 Colorectal Cancer 97 0.214
20
P ADN016 Adenocarcinoma 70 0.207
21
NRN002 Neuronitis 41 0.201
22
P ENC018 Encephalopathy 62 0.193
23
PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 23 0.192
24
P LNG032 Lung Cancer 98 0.184
25
P LVR013 Liver Disease 75 0.176
26
P HPT023 Hepatocellular Carcinoma 94 0.175
27
SKN016 Skin Disease 66 0.174
28
P LCT001 Lactic Acidosis 50 0.173
29
SKN027 Skin Conditions 48 0.173
30
P DBT009 Diabetes Mellitus 64 0.170
31
CRB009 Cerebritis 41 0.167
32
CHL068 Cholestasis 60 0.163
33
P GLM045 Glioma 54 0.162
34
P MYC007 Myocardial Infarction 79 0.160
35
PRS042 Prostate Disease 44 0.158
36
TYP041 Type I 56 0.154
37
P CRN018 Coronary Artery Anomaly 68 0.151
38
P NRV007 Nervous System Disease 73 0.151
39
HYP266 Hypoxia 61 0.151
40
P THY032 Thyroiditis 55 0.150
41
P NRP001 Neuropathy 63 0.150
42
c CRN300 Coronary Heart Disease 1 64 0.149
43
AGN016 Aging 64 0.148
44
P NRB001 Neuroblastoma 72 0.148
45
GST053 Gastric Cancer 77 0.148
46
GST050 Gastrointestinal System Disease 64 0.144
47
ISC006 Ischemic Heart Disease 72 0.144
48
P KDN018 Kidney Disease 68 0.138
49
SQM006 Squamous Cell Carcinoma 59 0.137
50
P HRT032 Heart Disease 74 0.134
51
c SML038 Small Cell Cancer of the Lung 68 0.134
52
MLN008 Melanoma 62 0.130
53
P EPL164 Epilepsy 69 0.130
54
THR024 Thrombosis 61 0.130
55
c CNT035 Central Nervous System Disease 63 0.130
56
BRS051 Breast Disease 66 0.129
57
ART140 Arteries, Anomalies of 65 0.129
58
P ART021 Arteriosclerosis 60 0.129
59
P MYP004 Myopathy 68 0.129
60
DPR016 Depression 72 0.128
61
CNG034 Congestive Heart Failure 72 0.128
62
OST012 Osteoarthritis 82 0.127
63
ENT004 Enthesopathy 46 0.126
64
P LYM118 Lymphoma 70 0.126
65
RHM027 Rheumatic Disease 62 0.126
66
P ESP024 Esophagitis 63 0.125
67
P OVR042 Ovarian Cancer 81 0.125
68
AST005 Asthma 82 0.124
69
GLC008 Glucose Metabolism Disease 52 0.123
70
CYS001 Cystic Fibrosis 84 0.123
71
ATM095 Autoimmune Disease 64 0.122
72
VRL011 Viral Infectious Disease 63 0.121
73
MYL069 Myeloma, Multiple 83 0.120
74
NRM005 Neuromuscular Disease 60 0.120
75
RTN023 Retinitis 50 0.120
76
MLR004 Malaria 83 0.119
77
CRB025 Carbohydrate Metabolic Disorder 50 0.119
78
LNG099 Lung Disease 67 0.119
79
LPD008 Lipid Metabolism Disorder 58 0.119
80
BRN071 Brain Injury 53 0.118
81
PHN003 Phenylketonuria 73 0.118
82
BRN028 Brain Cancer 72 0.116
83
PNC034 Pancreas Disease 57 0.115
84
c MTR002 Mitral Valve Insufficiency 46 0.115
85
P PNC035 Pancreatic Cancer 79 0.114
86
FTT001 Fatty Liver Disease 60 0.114
87
c HPT001 Hepatitis C 71 0.114
88
SPS003 Spastic Diplegia 54 0.114
89
P ALZ034 Alzheimer Disease 87 0.112
90
P PNM007 Pneumonia 69 0.111
91
P CRV039 Cervicitis 49 0.110
92
NRV006 Nervous System Cancer 60 0.110
93
P MPL001 Maple Syrup Urine Disease 65 0.110
94
BRN106 Burns 56 0.108
95
c ACT075 Acute Myocardial Infarction 58 0.108
96
RSP006 Respiratory System Disease 63 0.108
97
GLB002 Glioblastoma 72 0.108
98
PLC008 Placenta Disease 61 0.108
99
HMS001 Hemosiderosis 51 0.107
100
RNL114 Renal Cell Carcinoma, Nonpapillary 59 0.106
101
IMM136 Immune System Disease 56 0.105
102
ADN018 Adenoma 63 0.104
103
P RHM011 Rheumatoid Arthritis 80 0.104
104
HYP066 Hyperglycemia 63 0.104
105
c HPT073 Hepatitis C Virus 72 0.103
106
MTB004 Metabolic Acidosis 48 0.103
107
P MSC005 Muscular Dystrophy 66 0.103
108
P CRV035 Cervical Cancer 69 0.103
109
DFC004 Deficiency Anemia 61 0.102
110
TRM010 Traumatic Brain Injury 55 0.102
111
HYP060 Hyperinsulinism 56 0.101
112
MYL009 Myelodysplastic Syndrome 70 0.100
113
EWN002 Ewing's Family of Tumors 56 0.100
114
P DRR001 Diarrhea 56 0.100
115
ERY003 Erythema Multiforme 60 0.099
116
PLM129 Pulmonary Disease, Chronic Obstructive 72 0.099
117
HDN002 Head Injury 47 0.099
118
CRB039 Cerebrovascular Disease 67 0.098
119
P THL005 Thalassemia 64 0.098
120
c CHR089 Chronic Kidney Failure 72 0.097
121
c ART101 Aortic Valve Disease 2 73 0.097
122
NNL002 Nonalcoholic Steatohepatitis 50 0.096
123
P VSC018 Visceral Steatosis 37 0.095
124
P ANR048 Aniridia 1 65 0.095
125
DHY010 Dihydrolipoamide Dehydrogenase Deficiency 34 0.095
126
c FTT008 Fatty Liver Disease, Nonalcoholic 1 39 0.094
127
ANX004 Anoxia 49 0.094
128
P INF037 Inflammatory Bowel Disease 53 0.092
129
P MSC033 Muscle Disorders 52 0.092
130
BLD137 Blood Group--Ahonen 17 0.092
131
P TRC086 Trichohepatoenteric Syndrome 1 54 0.091
132
MSC004 Muscle Tissue Disease 39 0.091
133
P CTR002 Cataract 60 0.091
134
P AST007 Astrocytoma 51 0.091
135
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.090
136
P GLY013 Glycogen Storage Disease 61 0.089
137
DMN002 Dementia 68 0.089
138
INS001 Insulinoma 65 0.088
139
CRD119 Cardiac Arrest 62 0.088
140
HYP056 Hypoglycemia 62 0.087
141
SRC014 Sarcoma 68 0.087
142
P HYP265 Hypotonia 40 0.085
143
TTH006 Tooth Disease 53 0.085
144
CYS013 Cystinuria 63 0.085
145
P CHR071 Charcot-Marie-Tooth Disease 65 0.084
146
BRN038 Bronchial Disease 56 0.084
147
HMN044 Human Immunodeficiency Virus Type 1 70 0.084
148
P LYM026 Lymphoblastic Leukemia 64 0.083
149
SKN020 Skin Papilloma 33 0.083
150
BSL008 Basal Ganglia Disease 46 0.083
151
MVM001 Movement Disease 60 0.082
152
PNC041 Pancreatic Ductal Adenocarcinoma 52 0.082
153
GLC003 Glucose Intolerance 56 0.081
154
c ACT027 Acute Pancreatitis 60 0.081
155
P MTC069 Mitochondrial Disorders 49 0.080
156
CMM003 Common Wart 41 0.080
157
RFS006 Refsum Disease, Classic 62 0.080
158
PRP001 Propionic Acidemia 62 0.080
159
GLB015 Glioblastoma Multiforme 60 0.079
160
P DYS154 Dystonia 64 0.079
161
ACR006 Aceruloplasminemia 73 0.079
162
P ATR011 Atrial Fibrillation 68 0.079
163
P MTC133 Mitochondrial Myopathy 54 0.079
164
HRT012 Heart Valve Disease 44 0.078
165
P MYL005 Myelofibrosis 70 0.078
166
SCK005 Sickle Cell Disease 54 0.078
167
P RTN024 Retinoblastoma 70 0.078
168
ORL011 Oral Cancer 59 0.078
169
LGH007 Leigh Syndrome 67 0.077
170
P GCH001 Gaucher's Disease 62 0.077
171
P UTR058 Uterine Anomalies 59 0.077
172
CHL004 Cholelithiasis 50 0.077
173
TRN015 Transient Cerebral Ischemia 56 0.076
174
AMN002 Amino Acid Metabolic Disorder 47 0.076
175
ATN005 Autonomic Dysfunction 50 0.076
176
CRH001 Crohn's Disease 78 0.076
177
P DYS021 Dysautonomia 43 0.076
178
c PLM164 Pulmonary Hypertension, Primary, 1 66 0.075
179
c CNG027 Congenital Hemolytic Anemia 46 0.075
180
THY028 Thyroid Cancer 66 0.075
181
P OVR049 Ovarian Disease 59 0.075
182
P MYP006 Myopia 56 0.074
183
LSH001 Leishmaniasis 70 0.074
184
DNT012 Dental Caries 51 0.074
185
ATN002 Autonomic Nervous System Disease 51 0.074
186
c LKM062 Leukemia, Acute Lymphoblastic 69 0.074
187
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 36 0.074
188
P ENC011 Encephalomyopathy 40 0.074
189
P NSP012 Nasopharyngeal Carcinoma 67 0.073
190
MSC157 Muscular Dystrophy, Duchenne Type 68 0.073
191
c ACT134 Acute Liver Failure 52 0.073
192
P ATS366 Autism X-Linked 2 43 0.073
193
P MDL005 Medulloblastoma 75 0.072
194
HPT004 Hepatic Coma 40 0.072
195
P MTC004 Mitochondrial Encephalomyopathy 43 0.071
196
PLN001 Plantar Wart 34 0.071
197
CHL065 Cholangiocarcinoma 63 0.070
198
P FRD012 Friedreich Ataxia 1 64 0.070
199
AMN012 Aminoacidopathies 24 0.070
200
P MNN013 Meningitis 70 0.069
201
P PRP029 Porphyria 62 0.069
202
INB001 Inborn Amino Acid Metabolism Disorder 16 0.069
203
CRN031 Cranial Nerve Disease 45 0.068
204
P DBT085 Diabetes Mellitus, Insulin-Dependent 65 0.068
205
c ACT073 Acute Leukemia 60 0.067
206
SKN019 Skin Melanoma 69 0.067
207
CLR108 Colorectal Adenoma 60 0.067
208
TXC002 Toxic Encephalopathy 55 0.067
209
P CHR285 Chronic Myelomonocytic Leukemia 62 0.067
210
TRN018 Transitional Cell Carcinoma 61 0.067
211
MTC005 Mitochondrial Metabolism Disease 44 0.066
212
SPN050 Spinocerebellar Degeneration 40 0.066
213
c INF145 Infantile Liver Failure Syndrome 1 35 0.066
214
ALR002 Al-Raqad Syndrome 31 0.066
215
ARG002 Argininosuccinic Aciduria 57 0.066
216
P AST055 Asthma-Related Traits 1 30 0.066
217
NNT012 Neonatal Jaundice 51 0.066
218
c BTT014 Beta-Thalassemia 69 0.065
219
P RNL007 Renal Tubular Acidosis 52 0.065
220
P HRD011 Hereditary Spherocytosis 55 0.065
221
ALC007 Alcohol Dependence 65 0.065
222
P ADL010 Adult Respiratory Distress Syndrome 66 0.065
223
c ACT210 Acute Respiratory Distress Syndrome 61 0.065
224
ALP046 Alport Syndrome, X-Linked 75 0.064
225
CND006 Candida Glabrata 37 0.064
226
P PRM002 Primary Hyperoxaluria 53 0.064
227
NSP002 Nasopharyngitis 46 0.063
228
P TYR004 Tyrosinemia 48 0.063
229
P HYP061 Hypertrophic Cardiomyopathy 64 0.063
230
CRD137 Cardiogenic Shock 45 0.063
231
P LNG064 Lung Cancer Susceptibility 3 76 0.062
232
BCK006 Back Pain 44 0.062
233
BRN049 Brain Tumor, Childhood 28 0.062
234
EXT006 Extrahepatic Cholestasis 40 0.061
235
KRN002 Kearns-Sayre Syndrome 60 0.061
236
WST001 West Syndrome 57 0.061
237
c BLD140 Blood Group, I System 23 0.061
238
OCL011 Ocular Motility Disease 41 0.061
239
MTR031 Motor Neuro-Ophthalmic Disorders 20 0.061
240
PPL022 Papilloma 58 0.060
241
CRV040 Cervix Carcinoma 53 0.060
242
CRV069 Cervix Disease 35 0.060
243
END057 Endometrial Cancer 65 0.059
244
P SPR120 Supranuclear Palsy, Progressive, 1 70 0.059
245
P PLM037 Pulmonary Hypertension 75 0.059
246
GST040 Gastric Adenocarcinoma 63 0.059
247
ORL015 Oral Squamous Cell Carcinoma 45 0.058
248
MSC152 Muscular Dystrophy, Becker Type 60 0.058
249
GLC009 Glucosephosphate Dehydrogenase Deficiency 48 0.058
250
ATX038 Ataxia and Polyneuropathy, Adult-Onset 28 0.057
251
P CRD132 Cardiac Conduction Defect 59 0.057
252
NWB001 Newborn Respiratory Distress Syndrome 52 0.057
253
RSP007 Respiratory Distress Syndrome, Infant 34 0.057
254
P MTH007 Methemoglobinemia 47 0.057
255
ATX010 Ataxia Neuropathy Spectrum 35 0.057
256
PYR016 Pyridoxine Deficiency 36 0.057
257
HYD012 Hydrops Fetalis 51 0.056
258
HYD059 Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect 37 0.056
259
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 54 0.056
260
LKM006 Leukomalacia 41 0.055
261
BRB001 Beriberi 41 0.055
262
c HYP794 Hyperoxaluria, Primary, Type I 41 0.055
263
SWY001 Swayback 31 0.055
264
DBT007 Diabetic Cataract 32 0.054
265
P HMP007 Hemophilia 60 0.054
266
P ANP001 Anaplastic Large Cell Lymphoma 59 0.054
267
c SCL052 Scleroderma, Familial Progressive 64 0.053
268
PLM010 Pulmonary Edema 56 0.053
269
BLD131 Bladder Urothelial Carcinoma 60 0.053
270
DBT084 Diabetes Mellitus, Ketosis-Prone 52 0.053
271
PRV004 Periventricular Leukomalacia 50 0.053
272
GLL018 Gallbladder Cancer 51 0.051
273
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59 0.051
274
HYP141 Hyperphenylalaninemia 42 0.051
275
ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 60 0.051
276
LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60 0.051
277
P BRS044 Breast Adenocarcinoma 58 0.051
278
P EST001 Estrogen-Receptor Positive Breast Cancer 51 0.051
279
P MLG056 Malignant Hyperthermia 59 0.050
280
P MCR010 Microcephaly 57 0.050
281
P INF016 Infantile Epileptic Encephalopathy 54 0.050
282
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.050
283
GLL008 Gilles De La Tourette Syndrome 63 0.050
284
P MYS005 Myositis 63 0.050
285
c ATM011 Autoimmune Hepatitis 62 0.050
286
ALC006 Alcoholic Hepatitis 62 0.050
287
MTC027 Mitochondrial Trifunctional Protein Deficiency 54 0.050
288
PRP083 Porphyria, Acute Intermittent 61 0.049
289
HPT082 Hepatic Adenomas, Familial 53 0.049
290
GLY085 Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency 18 0.048
291
P FTL001 Fetal Alcohol Syndrome 59 0.048
292
CLR030 Clear Cell Renal Cell Carcinoma 49 0.048
293
DWR001 Dwarfism 45 0.048
294
MSC012 Muscular Dystrophy, Duchenne and Becker Type 36 0.048
295
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61 0.047
296
c ALP101 Alpha-Thalassemia 59 0.047
297
FTL016 Fetal Edema 25 0.047
298
TRC120 Tricarboxylic Acid Cycle, Defect of 8 0.047
299
P DRM010 Dermatomyositis 64 0.047
300
VSC002 Vascular Dementia 58 0.047
301
PLS007 Plasmodium Falciparum Malaria 57 0.047
302
BRT005 Barth Syndrome 51 0.046
303
MCR013 Microphthalmia 60 0.045
304
BTN004 Biotin Deficiency 37 0.045
305
CHR066 Chronic Fatigue Syndrome 66 0.044
306
INT079 Intrahepatic Cholangiocarcinoma 52 0.044
307
c INH020 Inherited Metabolic Disorder 48 0.044
308
ANH002 Anhidrosis 48 0.043
309
MLG086 Malignant Hyperthermia Susceptibility 38 0.043
310
P CTR177 Citrullinemia, Type Ii, Adult-Onset 35 0.043
311
PPC001 Pepck 1 Deficiency 33 0.043
312
PDG002 Pdgfrb-Associated Chronic Eosinophilic Leukemia 29 0.043
313
c LCT020 Lactic Acidosis, Chronic Adult Form 9 0.043
314
c ACT004 Acute Diarrhea 40 0.043
315
CRB090 Cerebral Hypoxia 46 0.042
316
P VTL001 Vitelliform Macular Dystrophy 42 0.042
317
ART008 Arteriosclerosis Obliterans 42 0.042
318
PCH007 Pouchitis 41 0.042
319
P CNG003 Congenital Dyserythropoietic Anemia 41 0.041
320
BLD163 Blood Group, Dombrock System 22 0.041
321
ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 19 0.041
322
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 61 0.040
323
ADP007 Adie Pupil 41 0.040
324
MYC016 Mycobacterium Gordonae 23 0.040
325
P MCH002 Machado-Joseph Disease 62 0.039
326
FMR004 Fumarase Deficiency 34 0.039
327
ATM052 Autoimmune Disease 1 34 0.039
328
HYP187 Hypertryptophanemia 21 0.039
329
MNN020 Meningococcal Infection 47 0.037
330
BTM003 Beta-Aminoisobutyric Aciduria 15 0.037
331
APR001 Apraxia 53 0.035
332
P HMG032 Hemoglobin H Disease 52 0.035
333
WRN002 Wernicke-Korsakoff Syndrome 52 0.035
334
P MYT002 Myotonic Dystrophy 50 0.035
335
BBS001 Babesiosis 50 0.035
336
P KRN004 Kernicterus 48 0.035
337
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 47 0.035
338
CRB004 Cerebral Artery Occlusion 46 0.035
339
PRS127 Pearson Marrow-Pancreas Syndrome 44 0.035
340
CRT015 Carotid Artery Occlusion 44 0.035
341
MYC018 Mycobacterium Malmoense 32 0.035
342
MYT026 Myotonia Atrophica 27 0.035
343
MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 25 0.035
344
P HYP050 Hyperinsulinemic Hypoglycemia 54 0.033
345
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 45 0.033
346
AMN003 Amnestic Disorder 44 0.033
347
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 42 0.033
348
HMN035 Hemangioma-Thrombocytopenia Syndrome 38 0.033
349
HLT002 Halothane Hepatitis 31 0.033
350
GRC001 Gracile Syndrome 31 0.033
351
LPY002 Lipoyltransferase 1 Deficiency 21 0.033
352
LCT008 Lactate Dehydrogenase Deficiency 16 0.033
353
PFF001 Pfeiffer Syndrome 73 0.031
354
c MLG069 Malignant Hypertension 48 0.031
355
WRN003 Wernicke Encephalopathy 45 0.031
356
MTH064 Methemoglobinemia, Beta-Globin Type 39 0.031
357
ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 36 0.031
358
MTH026 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase 33 0.031
359
DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 32 0.031
360
c HYP555 Hypertriglyceridemia, Transient Infantile 31 0.031
361
c CNG223 Congenital Methemoglobinemia 30 0.031
362
c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 26 0.031
363
c THM013 Thiamine Metabolism Dysfunction Syndrome 5 22 0.031
364
MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 21 0.031
365
CRB089 Cerebral Beriberi 20 0.031
366
KRS005 Korsakoff's Amnesic Syndrome 12 0.031
Content
Loading form....