Search results for Pyruvic acid

380 hits were found for Pyruvic acid

# Family MCID Name MIFTS Score
1
HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 24 4.874
2
LPC003 Lipoic Acid Synthetase Deficiency 9 4.258
3
PYR013 Pyruvate Kinase Deficiency 58 0.449
4
PYR037 Pyruvate Carboxylase Deficiency 39 0.224
5
P HPT021 Hepatitis 68 0.220
6
P HML002 Hemolytic Anemia 61 0.212
7
P BRS047 Breast Cancer 100 0.208
8
P LKM002 Leukemia 72 0.207
9
P PRS040 Prostate Cancer 88 0.204
10
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 47 0.200
11
P PRM006 Primary Biliary Cirrhosis 50 0.194
12
P PNC044 Pancreatitis 60 0.185
13
ISC004 Ischemia 59 0.182
14
END072 Endotheliitis 41 0.178
15
P CLR023 Colorectal Cancer 95 0.174
16
P OBS005 Obesity 91 0.174
17
PRS047 Prostatitis 55 0.171
18
NRN002 Neuronitis 39 0.157
19
RPR002 Reproductive System Disease 43 0.157
20
P LCT001 Lactic Acidosis 50 0.155
21
SKN016 Skin Disease 64 0.150
22
SKN027 Skin Conditions 44 0.149
23
P ADN016 Adenocarcinoma 69 0.149
24
P LNG032 Lung Cancer 94 0.143
25
PRS042 Prostate Disease 51 0.137
26
P LVR013 Liver Disease 72 0.134
27
P CRN211 Coronary Artery Disease 73 0.134
28
P GLM045 Glioma 59 0.132
29
CHL068 Cholestasis 58 0.132
30
ORL011 Oral Cancer 56 0.130
31
CRB009 Cerebritis 39 0.129
32
PRP019 Peripheral Nervous System Disease 53 0.127
33
ISC006 Ischemic Heart Disease 53 0.127
34
P MYC007 Myocardial Infarction 77 0.126
35
HYP266 Hypoxia 55 0.126
36
P THY032 Thyroiditis 53 0.124
37
P HPT023 Hepatocellular Carcinoma 89 0.123
38
c CRN174 Coronary Heart Disease 2 21 0.123
39
c PRS116 Prostate Cancer 1 39 0.122
40
c PND001 Pain Disorder 55 0.122
41
BNC003 Bone Cancer 42 0.120
42
P HYP729 Hypersensitivity Reaction Disease 43 0.119
43
P NRB001 Neuroblastoma 71 0.118
44
CRB025 Carbohydrate Metabolic Disorder 47 0.116
45
MTH009 Mouth Disease 62 0.116
46
OCL009 Ocular Cancer 58 0.114
47
SQM006 Squamous Cell Carcinoma 69 0.113
48
P ATX004 Ataxia 52 0.113
49
PCK002 Pick Disease 68 0.112
50
P KDN018 Kidney Disease 65 0.112
51
ART111 Artery Disease 55 0.111
52
MLR007 Male Reproductive System Disease 36 0.111
53
P ENC018 Encephalopathy 52 0.111
54
ART021 Arteriosclerosis 57 0.110
55
CNG034 Congestive Heart Failure 70 0.109
56
BRS051 Breast Disease 60 0.109
57
P HRT032 Heart Disease 75 0.109
58
DFC004 Deficiency Anemia 60 0.108
59
LNG099 Lung Disease 61 0.108
60
ADL002 Adult Syndrome 57 0.107
61
MLR004 Malaria 82 0.106
62
LPD008 Lipid Metabolism Disorder 57 0.105
63
P AST005 Asthma 81 0.104
64
NLL002 Null Syndrome 26 0.104
65
BRT030 Birth Defects 44 0.103
66
P MYP004 Myopathy 68 0.103
67
GLC008 Glucose Metabolism Disease 44 0.103
68
P LYM118 Lymphoma 69 0.102
69
PNC034 Pancreas Disease 55 0.101
70
P NRV007 Nervous System Disease 70 0.101
71
RHM027 Rheumatic Disease 57 0.100
72
PRM243 Primary Bone Cancer 25 0.100
73
CYS001 Cystic Fibrosis 86 0.099
74
P NRV006 Nervous System Cancer 59 0.099
75
c CNT035 Central Nervous System Disease 60 0.099
76
P ESP024 Esophagitis 59 0.099
77
c ACT075 Acute Myocardial Infarction 59 0.098
78
P NRP001 Neuropathy 57 0.098
79
MSC004 Muscle Tissue Disease 37 0.098
80
P HYP117 Hypertriglyceridemia 61 0.098
81
P MLT019 Multiple Myeloma 82 0.097
82
CHL071 Child Syndrome 59 0.097
83
KDS001 Kid Syndrome 57 0.097
84
VND001 Vein Disease 49 0.096
85
PHN003 Phenylketonuria 72 0.096
86
c CRN172 Coronary Heart Disease 3 20 0.095
87
NRM005 Neuromuscular Disease 55 0.095
88
c HPT001 Hepatitis C 62 0.094
89
RSP006 Respiratory System Disease 60 0.093
90
P MSC033 Muscle Disorders 52 0.093
91
c MYC058 Myocardial Infarction 2 28 0.093
92
P CRD011 Cardiomyopathy 67 0.092
93
P RNL014 Renal Cell Carcinoma 80 0.092
94
IMP003 Impaired Renal Function Disease 36 0.092
95
MLN008 Melanoma 70 0.091
96
P EPL164 Epilepsy 65 0.090
97
P PNM007 Pneumonia 66 0.090
98
EYD002 Eye Disease 57 0.089
99
TBR010 Tuberculosis 69 0.089
100
FML037 Female Breast Cancer 50 0.088
101
MTB004 Metabolic Acidosis 47 0.088
102
P INT063 Intellectual Disability 58 0.087
103
c ACT073 Acute Leukemia 61 0.086
104
BRN071 Brain Injury 50 0.086
105
P PLM036 Pulmonary Fibrosis 68 0.085
106
ADN018 Adenoma 58 0.085
107
c HPT073 Hepatitis C Virus 70 0.085
108
c CNG027 Congenital Hemolytic Anemia 45 0.084
109
P HYP060 Hyperinsulinism 57 0.084
110
CRB039 Cerebrovascular Disease 63 0.084
111
CSY001 C Syndrome 53 0.083
112
RCT018 Rectal Neoplasm 53 0.083
113
BRN106 Burns 52 0.083
114
PHY002 Physical Disorder 43 0.083
115
SKN020 Skin Papilloma 31 0.082
116
BRN028 Brain Cancer 67 0.082
117
MYL009 Myelodysplastic Syndrome 71 0.082
118
P MTC069 Mitochondrial Disorders 55 0.081
119
VTM003 Vitamin Metabolic Disorder 31 0.081
120
HYP066 Hyperglycemia 59 0.081
121
CMM003 Common Wart 36 0.080
122
P CTR002 Cataract 57 0.080
123
DHY010 Dihydrolipoamide Dehydrogenase Deficiency 34 0.080
124
P PNC035 Pancreatic Cancer 84 0.080
125
P XLN007 X-Linked Disease 34 0.079
126
AMN002 Amino Acid Metabolic Disorder 48 0.079
127
GDS001 Good Syndrome 46 0.078
128
P RHM011 Rheumatoid Arthritis 87 0.078
129
FTT003 Fatty Acid Oxidation Disorders 38 0.077
130
P INF037 Inflammatory Bowel Disease 62 0.077
131
NTR005 Nutritional Deficiency Disease 47 0.077
132
P GLY013 Glycogen Storage Disease 59 0.077
133
P THL005 Thalassemia 61 0.077
134
P CRV039 Cervicitis 45 0.077
135
c CRN175 Coronary Heart Disease 4 20 0.076
136
c AST039 Asthma 2 31 0.076
137
WLL006 Wells Syndrome 58 0.075
138
INS001 Insulinoma 60 0.075
139
P CHR071 Charcot-Marie-Tooth Disease 67 0.075
140
WST001 West Syndrome 58 0.075
141
c AST037 Asthma 1 33 0.075
142
PLM129 Pulmonary Disease, Chronic Obstructive 62 0.074
143
BRN038 Bronchial Disease 53 0.074
144
MVM001 Movement Disease 52 0.074
145
c ACT027 Acute Pancreatitis 56 0.074
146
TTH006 Tooth Disease 51 0.074
147
PLN001 Plantar Wart 28 0.074
148
BSL008 Basal Ganglia Disease 44 0.074
149
CND002 Conduct Disorder 53 0.073
150
P DRR001 Diarrhea 59 0.073
151
CYS013 Cystinuria 63 0.073
152
NNL002 Nonalcoholic Steatohepatitis 50 0.073
153
LSH001 Leishmaniasis 66 0.073
154
CNV002 Conversion Disorder 40 0.072
155
SRC014 Sarcoma 66 0.072
156
DMN002 Dementia 52 0.072
157
HRT012 Heart Valve Disease 40 0.072
158
ANX004 Anoxia 44 0.071
159
P CRN178 Coronary Heart Disease 6 22 0.071
160
TRM010 Traumatic Brain Injury 51 0.071
161
P TRC086 Trichohepatoenteric Syndrome 1 51 0.071
162
P HMC003 Hemochromatosis 72 0.071
163
P FRD001 Friedreich Ataxia 62 0.071
164
CRD119 Cardiac Arrest 59 0.070
165
P LYM026 Lymphoblastic Leukemia 60 0.070
166
CHL004 Cholelithiasis 47 0.070
167
VSC018 Visceral Steatosis 41 0.069
168
P ENC011 Encephalomyopathy 37 0.068
169
BLD044 Bladder Disease 50 0.068
170
LYM020 Lymph Node Cancer 42 0.068
171
P PRP029 Porphyria 59 0.068
172
P RFS001 Refsum Disease 61 0.068
173
WTH001 Withdrawal Disorder 40 0.068
174
SCK005 Sickle Cell Disease 51 0.067
175
RNL097 Renal Artery Disease 42 0.067
176
P HYP265 Hypotonia 39 0.067
177
URN008 Urinary Bladder Cancer 63 0.067
178
c ACT134 Acute Liver Failure 48 0.067
179
HYP391 Hyperammonemia 38 0.067
180
P MTC004 Mitochondrial Encephalomyopathy 43 0.067
181
P MSC005 Muscular Dystrophy 65 0.066
182
HYP056 Hypoglycemia 60 0.066
183
P UTR038 Uterine Disease 36 0.066
184
P CTR001 Citrullinemia 60 0.066
185
MTC024 Mitochondrial Genetic Disorders 14 0.066
186
PNC041 Pancreatic Ductal Adenocarcinoma 62 0.066
187
PRS069 Prostate Cancer, Progression and Metastasis of 13 0.066
188
MCS002 Mucositis 54 0.066
189
P OVR049 Ovarian Disease 54 0.064
190
LYM116 Lymph Node Disease 47 0.063
191
CRD137 Cardiogenic Shock 41 0.063
192
MTC005 Mitochondrial Metabolism Disease 38 0.062
193
HDN002 Head Injury 44 0.062
194
P HRD011 Hereditary Spherocytosis 53 0.062
195
P CLR108 Colorectal Adenoma 59 0.062
196
CRN031 Cranial Nerve Disease 41 0.062
197
THY028 Thyroid Cancer 68 0.061
198
HPT004 Hepatic Coma 39 0.061
199
P NSP012 Nasopharyngeal Carcinoma 66 0.061
200
ORL015 Oral Squamous Cell Carcinoma 55 0.061
201
VTM002 Vitamin B12 Deficiency 45 0.061
202
P MDL005 Medulloblastoma 73 0.061
203
P LGH007 Leigh Syndrome 69 0.060
204
CRH001 Crohn's Disease 73 0.060
205
c RNL016 Renal Infectious Disease 23 0.060
206
ERY003 Erythema Multiforme 53 0.060
207
TRN018 Transitional Cell Carcinoma 52 0.059
208
NNT012 Neonatal Jaundice 47 0.059
209
ALR002 Al-Raqad Syndrome 29 0.059
210
INB001 Inborn Amino Acid Metabolism Disorder 14 0.059
211
P CHR285 Chronic Myelomonocytic Leukemia 58 0.058
212
ARG002 Argininosuccinic Aciduria 58 0.058
213
P PRM002 Primary Hyperoxaluria 50 0.058
214
P MNN013 Meningitis 65 0.058
215
KRN002 Kearns-Sayre Syndrome 57 0.058
216
DBT084 Diabetes Mellitus, Ketosis-Prone 49 0.058
217
FML006 Female Breast Central Part Cancer 17 0.057
218
P DYS154 Dystonia 61 0.057
219
P RTN024 Retinoblastoma 75 0.057
220
P CRB042 Cerebellar Ataxia 69 0.057
221
CND006 Candida Glabrata 34 0.056
222
c MNT149 Mental Retardation, X-Linked 3 33 0.056
223
c HMG004 Hemoglobin D Disease 33 0.056
224
PLR006 Pleural Cancer 42 0.056
225
RNL007 Renal Tubular Acidosis 48 0.055
226
P CRN035 Cranial Nerve Palsy 43 0.055
227
BRN049 Brain Tumor, Childhood 20 0.055
228
ALC007 Alcohol Dependence 62 0.055
229
THL010 Thalassemia Minor 38 0.055
230
EXT006 Extrahepatic Cholestasis 38 0.055
231
MTR031 Motor Neuro-Ophthalmic Disorders 19 0.055
232
HMG005 Hemoglobinopathy 51 0.054
233
c CRN173 Coronary Heart Disease 8 19 0.054
234
c INH020 Inherited Metabolic Disorder 45 0.054
235
P SPR098 Supranuclear Palsy, Progressive 59 0.053
236
P TYR004 Tyrosinemia 44 0.053
237
BLD131 Bladder Urothelial Carcinoma 51 0.053
238
NSP002 Nasopharyngitis 40 0.053
239
GST040 Gastric Adenocarcinoma 51 0.053
240
TXC002 Toxic Encephalopathy 50 0.053
241
PYR016 Pyridoxine Deficiency 35 0.053
242
CRV069 Cervix Disease 33 0.053
243
BCK001 Becker Muscular Dystrophy 71 0.052
244
PRT011 Protein C Deficiency 49 0.052
245
SPN050 Spinocerebellar Degeneration 35 0.052
246
SPR038 Supranuclear Ocular Palsy 17 0.052
247
SWY001 Swayback 27 0.051
248
LCT008 Lactate Dehydrogenase Deficiency 16 0.051
249
CRV040 Cervix Carcinoma 51 0.051
250
P ATX010 Ataxia Neuropathy Spectrum 27 0.051
251
c SPR049 Supranuclear Palsy, Progressive, 2 24 0.051
252
SCK003 Sickle Cell Anemia 71 0.051
253
BCK006 Back Pain 41 0.051
254
P MTH007 Methemoglobinemia 44 0.051
255
IRN002 Iron Metabolism Disease 42 0.050
256
HYD012 Hydrops Fetalis 43 0.050
257
PPL022 Papilloma 54 0.050
258
OCL011 Ocular Motility Disease 38 0.050
259
P BRS044 Breast Adenocarcinoma 57 0.049
260
DBT007 Diabetic Cataract 37 0.049
261
ATX038 Ataxia and Polyneuropathy, Adult-Onset 25 0.048
262
GLL018 Gallbladder Cancer 59 0.048
263
MLG056 Malignant Hyperthermia 57 0.048
264
PRT056 Protein R Deficiency 12 0.048
265
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 55 0.047
266
AND005 Androgen Insensitivity Syndrome, Mild 16 0.047
267
P ANP001 Anaplastic Large Cell Lymphoma 56 0.047
268
HYP141 Hyperphenylalaninemia 48 0.045
269
DBT006 Diabetic Macular Edema 46 0.045
270
VLC002 Vlcad Deficiency 59 0.045
271
TRF001 Trifunctional Protein Deficiency 55 0.045
272
CHR413 Chronic Myocardial Ischemia 41 0.045
273
THL013 Thalassemia, Hispanic Gamma-Delta-Beta 58 0.044
274
ALC006 Alcoholic Hepatitis 58 0.044
275
THL018 Thalassemia Major 52 0.044
276
c FRD006 Friedreich Ataxia 2 27 0.044
277
PLM010 Pulmonary Edema 52 0.044
278
P XLN110 X-Linked Charcot-Marie-Tooth Disease 40 0.044
279
THL017 Thalassemia Intermedia 40 0.044
280
GLC009 Glucosephosphate Dehydrogenase Deficiency 41 0.043
281
BRB001 Beriberi 36 0.042
282
PLS007 Plasmodium Falciparum Malaria 54 0.042
283
DWR001 Dwarfism 45 0.042
284
ACY006 Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of 43 0.042
285
c ACT004 Acute Diarrhea 37 0.042
286
P FTL001 Fetal Alcohol Syndrome 53 0.041
287
PLC005 Placental Insufficiency 53 0.041
288
CLR030 Clear Cell Renal Cell Carcinoma 51 0.041
289
CRB090 Cerebral Hypoxia 44 0.041
290
P CHR102 Charcot-Marie-Tooth Neuropathy 37 0.041
291
LCT007 Lactate Dehydrogenase a Deficiency 23 0.041
292
INT079 Intrahepatic Cholangiocarcinoma 55 0.041
293
VSC002 Vascular Dementia 52 0.041
294
CHR066 Chronic Fatigue Syndrome 61 0.040
295
MCR013 Microphthalmia 59 0.040
296
BRT005 Barth Syndrome 53 0.040
297
LMB062 Limb Ischemia 47 0.040
298
LKM006 Leukomalacia 42 0.040
299
CRT015 Carotid Artery Occlusion 41 0.040
300
ALC003 Alcoholic Psychosis 35 0.040
301
ACT098 Acute Erythroid Leukemia 48 0.039
302
CRN027 Corneal Neovascularization 46 0.039
303
LCH005 Lchad Deficiency 41 0.039
304
c EHL032 Ehlers-Danlos Syndrome, Type Viib 50 0.039
305
P MLG086 Malignant Hyperthermia Susceptibility 44 0.039
306
c HYP617 Hyperoxaluria, Primary, Type 1 40 0.039
307
P CNG003 Congenital Dyserythropoietic Anemia 39 0.039
308
LCT017 Lactate Dehydrogenase B Deficiency 23 0.039
309
ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 11 0.039
310
P GCH001 Gaucher's Disease 63 0.038
311
PRV004 Periventricular Leukomalacia 48 0.038
312
HPT074 Hepatic Adenoma, Somatic 44 0.038
313
CRB004 Cerebral Artery Occlusion 42 0.038
314
PLC001 Placenta Accreta 42 0.038
315
BCK003 Background Diabetic Retinopathy 35 0.038
316
NNT011 Neonatal Anemia 35 0.038
317
HNM002 Hinman Syndrome 27 0.038
318
UND005 Undifferentiated Pleomorphic Sarcoma 44 0.037
319
ART008 Arteriosclerosis Obliterans 42 0.037
320
PCH007 Pouchitis 38 0.037
321
ART005 Arteriovenous Malformation 63 0.036
322
SPN035 Spindle Cell Sarcoma 43 0.036
323
MYC016 Mycobacterium Gordonae 21 0.036
324
P MCR129 Microvascular Complications of Diabetes 1 52 0.035
325
AMN003 Amnestic Disorder 43 0.035
326
FMR004 Fumarase Deficiency 40 0.035
327
C7D001 C7 Deficiency 28 0.035
328
P MCH002 Machado-Joseph Disease 62 0.034
329
P LRS001 Larsen Syndrome 53 0.034
330
CRT049 Critical Limb Ischemia 50 0.034
331
MNN020 Meningococcal Infection 42 0.034
332
PYG006 Pyogenic Granuloma 41 0.034
333
MCL003 Macular Holes 41 0.034
334
MCR225 Macrophage Activation Syndrome 40 0.034
335
ISN001 Isoniazid Toxicity 22 0.034
336
P HMN010 Hemangioma 59 0.033
337
P HYP050 Hyperinsulinemic Hypoglycemia 55 0.033
338
ANG020 Angiosarcoma 52 0.033
339
PMS001 Poems Syndrome 51 0.033
340
P CPL006 Capillary Hemangioma 50 0.033
341
APR001 Apraxia 49 0.033
342
P MYT002 Myotonic Dystrophy 48 0.033
343
BBS001 Babesiosis 47 0.033
344
WRN002 Wernicke-Korsakoff Syndrome 46 0.033
345
P KRN004 Kernicterus 45 0.033
346
HMS001 Hemosiderosis 44 0.033
347
PRS127 Pearson Marrow-Pancreas Syndrome 43 0.033
348
FVS001 Favism 40 0.033
349
BTN004 Biotin Deficiency 33 0.033
350
MYC018 Mycobacterium Malmoense 30 0.033
351
MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 23 0.033
352
LYM022 Lymphangioma 51 0.031
353
PYD002 Pyoderma 47 0.031
354
ANG018 Angiomyolipoma 45 0.031
355
P VTL001 Vitelliform Macular Dystrophy 38 0.031
356
GRC001 Gracile Syndrome 32 0.031
357
PPC001 Pepck 1 Deficiency 28 0.031
358
c THM013 Thiamine Metabolism Dysfunction Syndrome 5 27 0.031
359
LPY002 Lipoyltransferase 1 Deficiency 19 0.031
360
ART033 Aortic Valves Stenosis of the Child 10 0.031
361
P HYP187 Hypertryptophanemia 8 0.031
362
P PFF001 Pfeiffer Syndrome 71 0.029
363
c EXD008 Exudative Vitreoretinopathy 1 55 0.029
364
c MCR115 Microvascular Complications of Diabetes 5 53 0.029
365
TWN001 Twin-to-Twin Transfusion Syndrome 46 0.029
366
c MLG069 Malignant Hypertension 46 0.029
367
MCR018 Microcytic Anemia 44 0.029
368
HYP327 Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 43 0.029
369
WRN003 Wernicke Encephalopathy 43 0.029
370
EPL116 Epileptic Encephalopathy, Childhood-Onset 40 0.029
371
ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 39 0.029
372
LPD014 Lipodermatosclerosis 37 0.029
373
c HYP555 Hypertriglyceridemia, Transient Infantile 30 0.029
374
c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 28 0.029
375
ALC013 Alcohol-Induced Mental Disorder 28 0.029
376
c CNG223 Congenital Methemoglobinemia 26 0.029
377
DHY014 Dehydrated Hereditary Stomatocytosis with or Without Pseudohyperkalemia and/or Perinatal Edema 25 0.029
378
MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 19 0.029
379
CRB089 Cerebral Beriberi 13 0.029
380
KRS005 Korsakoff's Amnesic Syndrome 9 0.029
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