Search results for Pyruvic acid

346 hits were found for Pyruvic acid

# Family MCID Name MIFTS Score
1
HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 23 5.738
2
LPC003 Lipoic Acid Synthetase Deficiency 10 3.482
3
PYR041 Pyruvate Kinase Deficiency of Red Cells 54 0.473
4
c BLD140 Blood Group, I System 37 0.278
5
P HPT021 Hepatitis 75 0.267
6
P BRS047 Breast Cancer 100 0.259
7
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 51 0.256
8
P LKM002 Leukemia 75 0.255
9
PYR037 Pyruvate Carboxylase Deficiency 38 0.239
10
P PRS040 Prostate Cancer 88 0.238
11
END072 Endotheliitis 46 0.220
12
P HML002 Hemolytic Anemia 62 0.218
13
P PNC044 Pancreatitis 64 0.218
14
P PRM006 Primary Biliary Cirrhosis 55 0.218
15
c BLR024 Biliary Cirrhosis, Primary, 1 35 0.218
16
PRS047 Prostatitis 59 0.211
17
ISC004 Ischemia 66 0.211
18
P CLR023 Colorectal Cancer 98 0.205
19
NRN002 Neuronitis 43 0.191
20
P ADN016 Adenocarcinoma 71 0.184
21
PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 23 0.183
22
P LNG032 Lung Cancer 99 0.177
23
P ENC018 Encephalopathy 58 0.176
24
SKN016 Skin Disease 68 0.175
25
SKN027 Skin Conditions 48 0.174
26
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.171
27
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.171
28
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.171
29
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.171
30
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.171
31
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.171
32
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.171
33
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.171
34
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.171
35
P LCT001 Lactic Acidosis 51 0.168
36
P LVR013 Liver Disease 76 0.166
37
CHL068 Cholestasis 60 0.161
38
P DBT009 Diabetes Mellitus 72 0.160
39
P GLM045 Glioma 61 0.157
40
CRB009 Cerebritis 41 0.155
41
P HPT023 Hepatocellular Carcinoma 94 0.154
42
PRS042 Prostate Disease 56 0.153
43
P CRN018 Coronary Artery Anomaly 69 0.152
44
HYP266 Hypoxia 61 0.150
45
P CRN300 Coronary Heart Disease 1 57 0.149
46
P THY032 Thyroiditis 56 0.149
47
P NRB001 Neuroblastoma 73 0.147
48
P MYC007 Myocardial Infarction 81 0.146
49
ISC006 Ischemic Heart Disease 73 0.144
50
GST053 Gastric Cancer 84 0.143
51
AGN016 Aging 65 0.142
52
P KDN018 Kidney Disease 69 0.137
53
P RNG031 Ring Chromosome Y Syndrome 29 0.137
54
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89 0.136
55
P HRT032 Heart Disease 80 0.136
56
SQM006 Squamous Cell Carcinoma 74 0.135
57
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.133
58
BRS051 Breast Disease 67 0.130
59
c SML038 Small Cell Cancer of the Lung 67 0.130
60
P ART021 Arteriosclerosis 62 0.130
61
ART140 Arteries, Anomalies of 51 0.129
62
LNG099 Lung Disease 67 0.127
63
RHM027 Rheumatic Disease 62 0.126
64
AST005 Asthma 83 0.125
65
CNG034 Congestive Heart Failure 74 0.124
66
P LYM118 Lymphoma 71 0.123
67
GLC008 Glucose Metabolism Disease 38 0.123
68
VRL011 Viral Infectious Disease 64 0.123
69
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.123
70
MLR004 Malaria 86 0.122
71
P NRP001 Neuropathy 63 0.122
72
ATM095 Autoimmune Disease 66 0.121
73
P ESP024 Esophagitis 64 0.120
74
P MYP004 Myopathy 69 0.119
75
MYL069 Myeloma, Multiple 86 0.118
76
LPD008 Lipid Metabolism Disorder 59 0.118
77
P NRV007 Nervous System Disease 75 0.117
78
PNC034 Pancreas Disease 59 0.117
79
CYS001 Cystic Fibrosis 85 0.115
80
P OVR042 Ovarian Cancer 82 0.113
81
MLN008 Melanoma 72 0.112
82
c HPT001 Hepatitis C 73 0.112
83
NRM005 Neuromuscular Disease 60 0.112
84
CRB025 Carbohydrate Metabolic Disorder 38 0.112
85
c CNT035 Central Nervous System Disease 65 0.112
86
PHN003 Phenylketonuria 73 0.111
87
P EPL164 Epilepsy 70 0.111
88
P MPL001 Maple Syrup Urine Disease 66 0.110
89
RSP006 Respiratory System Disease 63 0.109
90
HMS001 Hemosiderosis 50 0.109
91
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.108
92
IMM136 Immune System Disease 57 0.108
93
P PNM007 Pneumonia 70 0.106
94
RNL114 Renal Cell Carcinoma, Nonpapillary 68 0.104
95
c ACT075 Acute Myocardial Infarction 64 0.104
96
ADN018 Adenoma 63 0.103
97
HYP066 Hyperglycemia 64 0.103
98
DFC004 Deficiency Anemia 62 0.103
99
NNL002 Nonalcoholic Steatohepatitis 56 0.102
100
MTB004 Metabolic Acidosis 49 0.102
101
BRN106 Burns 57 0.101
102
HYP060 Hyperinsulinism 56 0.101
103
c HPT073 Hepatitis C Virus 73 0.101
104
BRN071 Brain Injury 54 0.101
105
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 40 0.099
106
CRB039 Cerebrovascular Disease 68 0.098
107
MYL009 Myelodysplastic Syndrome 75 0.098
108
P PNC035 Pancreatic Cancer 89 0.097
109
BRN028 Brain Cancer 72 0.097
110
DHY010 Dihydrolipoamide Dehydrogenase Deficiency 34 0.097
111
c CHR089 Chronic Kidney Failure 72 0.097
112
P MYC084 Mycobacterium Tuberculosis 1 69 0.096
113
P RHM011 Rheumatoid Arthritis 91 0.094
114
P ANR048 Aniridia 1 68 0.094
115
P CRV039 Cervicitis 49 0.094
116
ANR038 Anorexia Nervosa 1 21 0.094
117
BLD137 Blood Group--Ahonen 17 0.094
118
P CTR002 Cataract 60 0.092
119
P INF037 Inflammatory Bowel Disease 52 0.092
120
NRV006 Nervous System Cancer 61 0.091
121
MSC033 Muscle Disorders 53 0.091
122
MSC004 Muscle Tissue Disease 39 0.090
123
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.089
124
P GLY013 Glycogen Storage Disease 61 0.089
125
ANX004 Anoxia 49 0.089
126
P CRV035 Cervical Cancer 72 0.089
127
P DRR001 Diarrhea 60 0.088
128
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.088
129
P THL005 Thalassemia 65 0.088
130
SRC014 Sarcoma 68 0.087
131
DMN002 Dementia 68 0.086
132
HYP056 Hypoglycemia 62 0.086
133
BRN038 Bronchial Disease 58 0.086
134
P HYP750 Hypertriglyceridemia, Familial 55 0.086
135
CYS013 Cystinuria 64 0.086
136
P VSC018 Visceral Steatosis 38 0.085
137
TTH006 Tooth Disease 54 0.085
138
P CHR071 Charcot-Marie-Tooth Disease 67 0.085
139
c HYP555 Hypertriglyceridemia, Transient Infantile 34 0.085
140
INS001 Insulinoma 66 0.084
141
SKN020 Skin Papilloma 34 0.084
142
BSL008 Basal Ganglia Disease 44 0.084
143
P LYM026 Lymphoblastic Leukemia 66 0.084
144
PNC041 Pancreatic Ductal Adenocarcinoma 67 0.083
145
P HYP265 Hypotonia 40 0.083
146
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.083
147
P TRC086 Trichohepatoenteric Syndrome 1 54 0.083
148
CRD119 Cardiac Arrest 63 0.083
149
TRM010 Traumatic Brain Injury 54 0.083
150
MVM001 Movement Disease 40 0.082
151
CMM003 Common Wart 41 0.082
152
c ACT027 Acute Pancreatitis 61 0.081
153
MTC069 Mitochondrial Disorders 49 0.081
154
HRT012 Heart Valve Disease 45 0.081
155
RFS006 Refsum Disease, Classic 63 0.081
156
GLC003 Glucose Intolerance 58 0.080
157
CHL004 Cholelithiasis 51 0.078
158
P UTR058 Uterine Anomalies 55 0.078
159
P MYL005 Myelofibrosis 75 0.077
160
P MSC005 Muscular Dystrophy 66 0.077
161
AMN002 Amino Acid Metabolic Disorder 38 0.077
162
c CNG027 Congenital Hemolytic Anemia 46 0.077
163
ORL011 Oral Cancer 60 0.077
164
c MTR002 Mitral Valve Insufficiency 46 0.076
165
SCK005 Sickle Cell Disease 54 0.075
166
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.075
167
P ENC011 Encephalomyopathy 40 0.075
168
P OVR049 Ovarian Disease 58 0.075
169
LGH007 Leigh Syndrome 68 0.075
170
P STR035 Streptococcal Group a Invasive Disease 28 0.075
171
THY028 Thyroid Cancer 72 0.074
172
LSH001 Leishmaniasis 71 0.074
173
P ATS366 Autism X-Linked 2 34 0.074
174
HDN002 Head Injury 48 0.074
175
P DYS154 Dystonia 61 0.073
176
MTC004 Mitochondrial Encephalomyopathy 42 0.073
177
PLN001 Plantar Wart 32 0.073
178
P MYP006 Myopia 56 0.072
179
CRH001 Crohn's Disease 80 0.072
180
P MDL005 Medulloblastoma 76 0.072
181
HPT004 Hepatic Coma 40 0.072
182
P FRD012 Friedreich Ataxia 1 58 0.071
183
c PLM164 Pulmonary Hypertension, Primary, 1 67 0.071
184
c ACT134 Acute Liver Failure 52 0.071
185
P NSP012 Nasopharyngeal Carcinoma 71 0.070
186
P PRP029 Porphyria 62 0.069
187
INB001 Inborn Amino Acid Metabolism Disorder 16 0.069
188
AMN012 Aminoacidopathies 15 0.069
189
P MTC133 Mitochondrial Myopathy 53 0.069
190
P MNN013 Meningitis 71 0.069
191
ACR006 Aceruloplasminemia 65 0.069
192
CHL065 Cholangiocarcinoma 70 0.068
193
P DBT085 Diabetes Mellitus, Insulin-Dependent 69 0.068
194
CRN031 Cranial Nerve Disease 45 0.068
195
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 43 0.068
196
ERY003 Erythema Multiforme 60 0.068
197
SPN050 Spinocerebellar Degeneration 41 0.068
198
c ACT073 Acute Leukemia 61 0.068
199
P RTN024 Retinoblastoma 76 0.067
200
P CHR285 Chronic Myelomonocytic Leukemia 63 0.067
201
TRN018 Transitional Cell Carcinoma 58 0.067
202
ARG002 Argininosuccinic Aciduria 57 0.067
203
ALR002 Al-Raqad Syndrome 30 0.067
204
P HRD011 Hereditary Spherocytosis 55 0.067
205
P RNL007 Renal Tubular Acidosis 51 0.066
206
c INF145 Infantile Liver Failure Syndrome 1 33 0.066
207
CLR108 Colorectal Adenoma 60 0.066
208
c BTT014 Beta-Thalassemia 70 0.065
209
TXC002 Toxic Encephalopathy 55 0.065
210
P AST055 Asthma-Related Traits 1 18 0.065
211
CTR172 Citrullinemia, Classic 58 0.065
212
P PRM002 Primary Hyperoxaluria 53 0.065
213
NNT012 Neonatal Jaundice 51 0.065
214
CND006 Candida Glabrata 38 0.065
215
ALC007 Alcohol Dependence 65 0.065
216
ALP046 Alport Syndrome, X-Linked 74 0.064
217
P HYP061 Hypertrophic Cardiomyopathy 65 0.064
218
P TYR004 Tyrosinemia 48 0.064
219
BRN049 Brain Tumor, Childhood 28 0.063
220
KRN002 Kearns-Sayre Syndrome 59 0.063
221
WST001 West Syndrome 57 0.063
222
CRD137 Cardiogenic Shock 45 0.063
223
EXT006 Extrahepatic Cholestasis 39 0.062
224
c ART101 Aortic Valve Disease 2 65 0.062
225
OCL011 Ocular Motility Disease 31 0.062
226
MTR031 Motor Neuro-Ophthalmic Disorders 20 0.062
227
c MNN043 Meningioma, Familial 69 0.061
228
PRP001 Propionic Acidemia 63 0.061
229
CRV069 Cervix Disease 39 0.061
230
PPL022 Papilloma 58 0.060
231
c GLL024 Gallbladder Disease 1 39 0.060
232
P SPR120 Supranuclear Palsy, Progressive, 1 70 0.060
233
GLC009 Glucosephosphate Dehydrogenase Deficiency 48 0.059
234
NSP002 Nasopharyngitis 46 0.059
235
GST040 Gastric Adenocarcinoma 60 0.059
236
ORL015 Oral Squamous Cell Carcinoma 59 0.059
237
CRV040 Cervix Carcinoma 52 0.059
238
BCK006 Back Pain 46 0.059
239
MSC152 Muscular Dystrophy, Becker Type 64 0.058
240
PYR016 Pyridoxine Deficiency 37 0.057
241
P MTH007 Methemoglobinemia 46 0.057
242
c HYP794 Hyperoxaluria, Primary, Type I 41 0.056
243
BRB001 Beriberi 40 0.056
244
SWY001 Swayback 30 0.056
245
LKM006 Leukomalacia 46 0.056
246
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 56 0.056
247
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 53 0.056
248
MNG003 Mungan Syndrome 34 0.055
249
P ANP001 Anaplastic Large Cell Lymphoma 60 0.055
250
P CRD132 Cardiac Conduction Defect 53 0.055
251
HYD012 Hydrops Fetalis 50 0.054
252
HYD059 Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect 34 0.054
253
PRV004 Periventricular Leukomalacia 53 0.054
254
DBT084 Diabetes Mellitus, Ketosis-Prone 50 0.054
255
DBT007 Diabetic Cataract 38 0.054
256
GLL018 Gallbladder Cancer 67 0.053
257
BLD131 Bladder Urothelial Carcinoma 55 0.053
258
LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59 0.051
259
ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 59 0.051
260
HYP141 Hyperphenylalaninemia 43 0.051
261
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.051
262
ALC006 Alcoholic Hepatitis 62 0.051
263
P BRS044 Breast Adenocarcinoma 58 0.051
264
MTC027 Mitochondrial Trifunctional Protein Deficiency 55 0.051
265
HPT082 Hepatic Adenomas, Familial 52 0.051
266
P MLG056 Malignant Hyperthermia 60 0.050
267
PRP083 Porphyria, Acute Intermittent 60 0.050
268
PLM010 Pulmonary Edema 57 0.050
269
BLR008 Bilirubin Metabolic Disorder 45 0.049
270
P FTL001 Fetal Alcohol Syndrome 59 0.049
271
DWR001 Dwarfism 48 0.049
272
c ALP101 Alpha-Thalassemia 60 0.048
273
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 55 0.048
274
TRC120 Tricarboxylic Acid Cycle, Defect of 8 0.048
275
GLL008 Gilles De La Tourette Syndrome 64 0.048
276
PLS007 Plasmodium Falciparum Malaria 59 0.048
277
CLR030 Clear Cell Renal Cell Carcinoma 55 0.048
278
MSC012 Muscular Dystrophy, Duchenne and Becker Type 35 0.048
279
P DRM010 Dermatomyositis 65 0.047
280
VSC002 Vascular Dementia 58 0.047
281
BRT005 Barth Syndrome 52 0.047
282
CHR066 Chronic Fatigue Syndrome 67 0.046
283
MCR013 Microphthalmia 61 0.046
284
MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 32 0.046
285
INT079 Intrahepatic Cholangiocarcinoma 60 0.045
286
c INH020 Inherited Metabolic Disorder 49 0.045
287
P CTR177 Citrullinemia, Type Ii, Adult-Onset 34 0.044
288
PPC001 Pepck 1 Deficiency 32 0.044
289
PDG002 Pdgfrb-Associated Chronic Eosinophilic Leukemia 29 0.044
290
c LCT020 Lactic Acidosis, Chronic Adult Form 9 0.044
291
P GCH001 Gaucher's Disease 62 0.044
292
P ART106 Arterial Calcification, Generalized, of Infancy, 1 36 0.044
293
ART008 Arteriosclerosis Obliterans 45 0.042
294
PCH007 Pouchitis 42 0.042
295
c ACT004 Acute Diarrhea 41 0.042
296
END081 Endosteal Hyperostosis, Autosomal Dominant 55 0.042
297
P CNG003 Congenital Dyserythropoietic Anemia 42 0.042
298
MLG086 Malignant Hyperthermia Susceptibility 38 0.042
299
BLD163 Blood Group, Dombrock System 23 0.042
300
ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 18 0.042
301
GLY085 Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency 16 0.042
302
UND005 Undifferentiated Pleomorphic Sarcoma 59 0.041
303
CRB090 Cerebral Hypoxia 47 0.041
304
MYC016 Mycobacterium Gordonae 24 0.041
305
P MCH002 Machado-Joseph Disease 63 0.040
306
FMR004 Fumarase Deficiency 34 0.040
307
HYP187 Hypertryptophanemia 21 0.040
308
MNN020 Meningococcal Infection 47 0.038
309
ATM052 Autoimmune Disease 1 30 0.038
310
BTM003 Beta-Aminoisobutyric Aciduria 14 0.038
311
P HMG032 Hemoglobin H Disease 53 0.036
312
APR001 Apraxia 52 0.036
313
WRN002 Wernicke-Korsakoff Syndrome 52 0.036
314
BBS001 Babesiosis 51 0.036
315
P MYT002 Myotonic Dystrophy 50 0.036
316
P KRN004 Kernicterus 48 0.036
317
CRB004 Cerebral Artery Occlusion 46 0.036
318
PRS127 Pearson Marrow-Pancreas Syndrome 45 0.036
319
CRT015 Carotid Artery Occlusion 42 0.036
320
P VTL001 Vitelliform Macular Dystrophy 41 0.036
321
ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 40 0.036
322
BTN004 Biotin Deficiency 37 0.036
323
MYC018 Mycobacterium Malmoense 33 0.036
324
MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 23 0.036
325
P HYP050 Hyperinsulinemic Hypoglycemia 55 0.034
326
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 51 0.034
327
AMN003 Amnestic Disorder 45 0.034
328
PPL059 Popliteal Pterygium Syndrome, Lethal Type 37 0.034
329
HLT002 Halothane Hepatitis 32 0.034
330
GRC001 Gracile Syndrome 31 0.034
331
LPY002 Lipoyltransferase 1 Deficiency 20 0.034
332
LCT008 Lactate Dehydrogenase Deficiency 15 0.034
333
c MLG069 Malignant Hypertension 49 0.031
334
WRN003 Wernicke Encephalopathy 47 0.031
335
MTH064 Methemoglobinemia, Beta-Globin Type 38 0.031
336
ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 37 0.031
337
HMN035 Hemangioma-Thrombocytopenia Syndrome 36 0.031
338
MTH026 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase 32 0.031
339
DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 32 0.031
340
c CNG223 Congenital Methemoglobinemia 30 0.031
341
PPL052 Papillomatosis, Confluent and Reticulated 26 0.031
342
c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 25 0.031
343
c THM013 Thiamine Metabolism Dysfunction Syndrome 5 22 0.031
344
MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 21 0.031
345
CRB089 Cerebral Beriberi 14 0.031
346
KRS005 Korsakoff's Amnesic Syndrome 7 0.031
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