Search results for 3-hydroxy-3-methylglutaryl-coa

315 hits were found for 3-hydroxy-3-methylglutaryl-coa

# Family MCID Name MIFTS Score
1
3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 51 143.813
2
3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 31 128.812
3
HYP056 Hypoglycemia 65 13.030
4
MTB004 Metabolic Acidosis 48 9.962
5
c HYP836 Hypercholesterolemia, Familial, 1 73 9.003
6
ATS010 Autosomal Recessive Disease 42 7.953
7
OCL069 Ocular Motor Apraxia 57 7.802
8
c INH020 Inherited Metabolic Disorder 47 6.907
9
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 6.721
10
ORG002 Organic Acidemia 43 5.639
11
RYS001 Reye Syndrome 49 5.286
12
P ENC018 Encephalopathy 62 5.286
13
P HYP265 Hypotonia 42 4.913
14
c ATR087 Atrial Standstill 1 74 4.646
15
FTT001 Fatty Liver Disease 61 4.644
16
P MYP004 Myopathy 67 4.612
17
P UNP013 Uniparental Disomy of Chromosome 1 22 4.325
18
c FML021 Familial Hypercholesterolemia 71 4.282
19
P PNC044 Pancreatitis 61 4.003
20
c ACT027 Acute Pancreatitis 60 4.003
21
VCT001 Vacterl Association 46 4.003
22
MVL001 Mevalonic Aciduria 65 3.762
23
P MYS005 Myositis 55 3.755
24
P HYP750 Hypertriglyceridemia, Familial 61 3.679
25
NCR015 Necrotizing Autoimmune Myopathy 32 3.593
26
c GLL024 Gallbladder Disease 1 53 3.496
27
LPD008 Lipid Metabolism Disorder 61 3.424
28
P BRS047 Breast Cancer 97 3.378
29
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 3.198
30
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 3.182
31
c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 47 3.182
32
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 51 3.122
33
MTB008 Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 42 3.122
34
CLB022 Coloboma, Ocular, Autosomal Recessive 29 2.770
35
PHN003 Phenylketonuria 76 2.718
36
P DRR001 Diarrhea 55 2.705
37
CYT002 Cytokine Deficiency 43 2.705
38
P MPL001 Maple Syrup Urine Disease 69 2.541
39
c MCR133 Microvascular Complications of Diabetes 4 41 2.541
40
c MCR113 Microvascular Complications of Diabetes 3 52 2.541
41
c MCR130 Microvascular Complications of Diabetes 6 41 2.541
42
c MCR120 Microvascular Complications of Diabetes 7 47 2.541
43
P RTN024 Retinoblastoma 72 2.472
44
ISV001 Isovaleric Acidemia 54 2.472
45
HMZ003 Homozygous Familial Hypercholesterolemia 60 2.472
46
HLX001 Helix Syndrome 47 2.396
47
HYP141 Hyperphenylalaninemia 42 2.396
48
VTR016 Vater/vacterl Association 50 2.250
49
STR067 Stroke, Ischemic 79 2.250
50
P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 53 2.250
51
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 2.250
52
LWC002 Lowe Oculocerebrorenal Syndrome 68 2.250
53
HPT025 Hepatic Lipase Deficiency 47 2.250
54
c DRR009 Diarrhea 6 46 2.250
55
ADL002 Adult Syndrome 69 2.250
56
c BLD140 Blood Group, I System 47 2.250
57
P CNR004 Cone-Rod Dystrophy 2 74 2.250
58
MNC019 Monocarboxylate Transporter 1 Deficiency 46 2.250
59
VSL002 Visual Epilepsy 39 2.250
60
VRL011 Viral Infectious Disease 60 2.250
61
P MTC069 Mitochondrial Disorders 57 2.250
62
P SZR006 Seizure Disorder 69 2.250
63
c PCH010 Pachyonychia Congenita 3 43 2.208
64
ATM095 Autoimmune Disease 61 2.208
65
INC002 Inclusion Body Myositis 56 2.208
66
P PLY041 Polymyositis 58 2.208
67
P EPL164 Epilepsy 70 2.208
68
P BRS044 Breast Adenocarcinoma 58 2.208
69
P DRM010 Dermatomyositis 61 2.208
70
CRB039 Cerebrovascular Disease 65 2.208
71
HPT022 Hepatoblastoma 54 2.208
72
CND006 Candida Glabrata 29 2.208
73
c CHR684 Chronic Kidney Disease 73 2.208
74
ALP077 Alpha-Methylacetoacetic Aciduria 52 2.074
75
PPL052 Papillomatosis, Confluent and Reticulated 34 2.074
76
P HMP002 Hemophagocytic Lymphohistiocytosis 60 2.074
77
P CRB048 Cerebral Cavernous Malformations 63 2.074
78
P STS003 Sitosterolemia 53 2.074
79
FML035 Familial Hyperlipidemia 54 2.074
80
ACN001 Acinar Cell Carcinoma 44 2.074
81
c PRC016 Pre-Eclampsia 64 2.074
82
CHG001 Chagas Disease 65 2.074
83
P LCT001 Lactic Acidosis 50 2.074
84
CVR010 Cavernous Malformation 29 2.074
85
CLT003 Colitis 63 1.753
86
c CRN172 Coronary Heart Disease 3 15 1.753
87
DBT084 Diabetes Mellitus, Ketosis-Prone 59 1.753
88
MLD018 Mild Cognitive Impairment 48 1.753
89
CHR020 Chronic Interstitial Cystitis 36 1.655
90
RNL114 Renal Cell Carcinoma, Nonpapillary 79 1.492
91
NNL005 Non-Alcoholic Fatty Liver Disease 63 1.365
92
RNL065 Renal Cell Carcinoma, Papillary, 1 79 1.170
93
c NRB010 Neuroblastoma 1 59 1.170
94
HYP066 Hyperglycemia 60 1.160
95
RPD005 Rapidly Involuting Congenital Hemangioma 48 1.017
96
c HNT011 Huntington Disease-Like 3 33 0.851
97
c HNT004 Huntington Disease-Like 2 51 0.851
98
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 0.851
99
c 3MT007 3-Methylglutaconic Aciduria 37 0.788
100
P PRS040 Prostate Cancer 95 0.788
101
P BDY004 Body Mass Index Quantitative Trait Locus 11 82 0.788
102
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.788
103
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 0.788
104
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.788
105
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 0.788
106
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.788
107
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 0.788
108
c BDY019 Body Mass Index Quantitative Trait Locus 18 46 0.788
109
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.788
110
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.788
111
GLM045 Glioma 62 0.788
112
48X005 48,xyyy 39 0.788
113
GLL048 Glial Tumor 51 0.788
114
PRP001 Propionic Acidemia 65 0.719
115
ATH013 Atherosclerosis Susceptibility 63 0.719
116
P PLM037 Pulmonary Hypertension 69 0.719
117
3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 52 0.719
118
P NPH012 Nephrotic Syndrome 61 0.719
119
P NRB001 Neuroblastoma 66 0.719
120
ACY011 Acyl-Coa Dehydrogenase Deficiency 31 0.719
121
P CRN300 Coronary Heart Disease 1 73 0.643
122
P MTH008 Methylmalonic Acidemia 52 0.643
123
ISL099 Isolated Methylmalonic Acidemia 35 0.643
124
P HMC002 Homocystinuria 52 0.643
125
P BCL017 B-Cell Lymphoma 57 0.643
126
PRT251 Proteinuria, Chronic Benign 58 0.557
127
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 0.557
128
P ALZ034 Alzheimer Disease 87 0.557
129
c TYP009 Type 2 Diabetes Mellitus 91 0.557
130
c PLM164 Pulmonary Hypertension, Primary, 1 75 0.557
131
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 0.557
132
LYM007 Lymphangioleiomyomatosis 68 0.557
133
c TBR025 Tuberous Sclerosis 1 84 0.557
134
c NMN015 Niemann-Pick Disease, Type C1 68 0.557
135
P HPT023 Hepatocellular Carcinoma 95 0.557
136
NNL006 Non-Alcoholic Steatohepatitis 54 0.557
137
GLB002 Glioblastoma 67 0.557
138
P TBR001 Tuberous Sclerosis 69 0.557
139
TXC005 Toxic Shock Syndrome 61 0.557
140
P TYR004 Tyrosinemia 49 0.557
141
VSC002 Vascular Dementia 59 0.557
142
HYP266 Hypoxia 56 0.557
143
c FTL070 Fetal Akinesia Deformation Sequence 2 36 0.455
144
P SLP006 Sleep Apnea 69 0.455
145
CYS001 Cystic Fibrosis 77 0.455
146
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 0.455
147
P FML018 Familial Mediterranean Fever 73 0.455
148
c 3MT015 3-Methylglutaconic Aciduria, Type I 51 0.455
149
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 64 0.455
150
P CLR023 Colorectal Cancer 100 0.455
151
c LKM061 Leukemia, Acute Myeloid 83 0.455
152
HYP088 Hyper-Igd Syndrome 51 0.455
153
PCK003 Pick Disease of Brain 70 0.455
154
P PHC003 Pheochromocytoma 70 0.455
155
P FRD001 Friedreich Ataxia 62 0.455
156
ADR040 Adrenal Gland Pheochromocytoma 45 0.455
157
P ART021 Arteriosclerosis 53 0.455
158
CYS009 Cystadenoma 42 0.455
159
P HMN010 Hemangioma 61 0.455
160
HRY003 Hairy Cell Leukemia 53 0.455
161
CRT016 Carotid Artery Disease 52 0.455
162
P VSC007 Vascular Disease 62 0.455
163
P LVR013 Liver Disease 68 0.455
164
P RHB003 Rhabdomyosarcoma 66 0.455
165
P HYP061 Hypertrophic Cardiomyopathy 68 0.455
166
c DLT002 Dilated Cardiomyopathy 79 0.455
167
P NMN002 Niemann-Pick Disease 60 0.455
168
PRT037 Pertussis 49 0.455
169
CHL004 Cholelithiasis 48 0.455
170
P MTC133 Mitochondrial Myopathy 51 0.455
171
P DBT009 Diabetes Mellitus 67 0.455
172
END086 End Stage Renal Disease 54 0.455
173
P MNC007 Monocytic Leukemia 48 0.455
174
47X002 47,xyy 47 0.455
175
P ALP008 Alopecia 53 0.455
176
ANX004 Anoxia 40 0.455
177
MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 34 0.455
178
GLM044 Glomerular Disease 34 0.455
179
c DNT047 Dentinogenesis Imperfecta Type 2 35 0.455
180
P OVR096 Overlap Myositis 27 0.455
181
PRG003 Progesterone-Receptor Negative Breast Cancer 30 0.322
182
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.322
183
ACT119 Acute Promyelocytic Leukemia 62 0.322
184
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.322
185
SQL002 Squalene Synthase Deficiency 27 0.322
186
RNL077 Renal Fibrosis 46 0.322
187
ORL015 Oral Squamous Cell Carcinoma 43 0.322
188
PLM134 Pulmonary Fibrosis, Idiopathic 76 0.322
189
ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 58 0.322
190
ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 54 0.322
191
LPD012 Lipoid Congenital Adrenal Hyperplasia 68 0.322
192
END020 Endocardial Fibroelastosis 53 0.322
193
ARG002 Argininosuccinic Aciduria 61 0.322
194
CRB011 Cerebrotendinous Xanthomatosis 64 0.322
195
CTR172 Citrullinemia, Classic 64 0.322
196
P MDL005 Medulloblastoma 75 0.322
197
P ANT080 Antigen Defined by Monoclonal Antibody Aj9 18 0.322
198
MLN011 Malonyl-Coa Decarboxylase Deficiency 37 0.322
199
PLY150 Polykaryocytosis Inducer 29 0.322
200
CRD223 Cardiac Arrhythmia 63 0.322
201
CRD132 Cardiac Conduction Defect 59 0.322
202
P GLC113 Galactosemia I 65 0.322
203
ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 61 0.322
204
GST092 Gastroesophageal Reflux 59 0.322
205
INS024 Insulin-Like Growth Factor I 77 0.322
206
c TYR012 Tyrosinemia, Type I 61 0.322
207
c OPT051 Opitz Gbbb Syndrome, Type I 45 0.322
208
XNT003 Xanthomatosis 48 0.322
209
P DRM053 Dermatitis, Atopic 65 0.322
210
MDM005 Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency 14 0.322
211
c HNT010 Huntington Disease-Like 1 54 0.322
212
ANG054 Angina Pectoris 65 0.322
213
P GST053 Gastric Cancer 82 0.322
214
MMM006 Mammographic Density 39 0.322
215
ADR016 Adrenal Cortical Carcinoma 61 0.322
216
SBC019 Subcutaneous Mycosis 34 0.322
217
P EXN002 Exanthem 58 0.322
218
P PNC035 Pancreatic Cancer 87 0.322
219
ADR054 Adrenocortical Carcinoma, Hereditary 47 0.322
220
P LNG032 Lung Cancer 98 0.322
221
KPS004 Kaposi Sarcoma 76 0.322
222
c THY109 Thyroid Cancer, Nonmedullary, 1 55 0.322
223
SMT004 Smith-Lemli-Opitz Syndrome 69 0.322
224
TBL029 Tubulin, Beta 28 0.322
225
P AST005 Asthma 75 0.322
226
c MCR115 Microvascular Complications of Diabetes 5 65 0.322
227
EPD052 Epidermolysis Bullosa Simplex Superficialis 17 0.322
228
P MYC084 Mycobacterium Tuberculosis 1 68 0.322
229
P GRF003 Graft-Versus-Host Disease 71 0.322
230
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 65 0.322
231
P HMN032 Human Herpesvirus 8 47 0.322
232
LPT014 Leptin Deficiency or Dysfunction 77 0.322
233
P DNG005 Dengue Virus 55 0.322
234
c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 35 0.322
235
HRN029 Hearing Loss, Noise-Induced 37 0.322
236
P ASP006 Aspergillosis 71 0.322
237
APN008 Apnea, Obstructive Sleep 66 0.322
238
P LKM071 Leukemia, Chronic Lymphocytic 74 0.322
239
P ALG028 Alagille Syndrome 1 73 0.322
240
P GLM040 Glioma Susceptibility 1 70 0.322
241
CHD004 Chudley-Mccullough Syndrome 47 0.322
242
ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 36 0.322
243
END057 Endometrial Cancer 76 0.322
244
HLC007 Helicobacter Pylori Infection 67 0.322
245
P LNG064 Lung Cancer Susceptibility 3 69 0.322
246
CMB007 Combined Immunodeficiency 56 0.322
247
P SNS001 Sensorineural Hearing Loss 60 0.322
248
CHL123 Chlamydia 58 0.322
249
THY121 Thyroid Gland Anaplastic Carcinoma 66 0.322
250
ANT039 Antisynthetase Syndrome 55 0.322
251
P LKM002 Leukemia 65 0.322
252
CLN015 Colon Adenocarcinoma 64 0.322
253
MLG169 Malignant Astrocytoma 57 0.322
254
P FBR017 Fibrosarcoma 55 0.322
255
SQM006 Squamous Cell Carcinoma 59 0.322
256
IMP005 Impotence 52 0.322
257
CHL068 Cholestasis 61 0.322
258
KRT009 Keratosis 52 0.322
259
HYP026 Hypoglycemic Coma 37 0.322
260
P OVR106 Ovarian Clear Cell Carcinoma 42 0.322
261
URT010 Ureteral Obstruction 44 0.322
262
CLR030 Clear Cell Renal Cell Carcinoma 53 0.322
263
ISC004 Ischemia 61 0.322
264
CNG034 Congestive Heart Failure 69 0.322
265
SVR004 Severe Combined Immunodeficiency 70 0.322
266
CNN005 Connective Tissue Disease 66 0.322
267
P ACN011 Acne 55 0.322
268
P INT068 Intestinal Disease 53 0.322
269
P KDN018 Kidney Disease 71 0.322
270
IRN002 Iron Metabolism Disease 56 0.322
271
P HYP086 Hypothyroidism 68 0.322
272
P CND004 Candidiasis 57 0.322
273
P HRT032 Heart Disease 84 0.322
274
P PLY011 Polycystic Ovary Syndrome 57 0.322
275
BRC012 Brucellosis 66 0.322
276
P EHL001 Ehlers-Danlos Syndrome 57 0.322
277
DRM006 Dermatitis 61 0.322
278
P ADN016 Adenocarcinoma 63 0.322
279
P PLM036 Pulmonary Fibrosis 65 0.322
280
ADR004 Adrenal Cortical Adenocarcinoma 38 0.322
281
LYS002 Lysosomal Storage Disease 51 0.322
282
HYP043 Hyperandrogenism 47 0.322
283
GST033 Gestational Diabetes 60 0.322
284
PRD004 Prediabetes Syndrome 52 0.322
285
GLC003 Glucose Intolerance 53 0.322
286
SPR010 Sporotrichosis 45 0.322
287
P END046 Endometritis 46 0.322
288
SLP001 Sleeping Sickness 56 0.322
289
P MLN008 Melanoma 75 0.322
290
ACQ007 Acquired Immunodeficiency Syndrome 58 0.322
291
GSG001 Gas Gangrene 52 0.322
292
ALL006 Allergic Asthma 55 0.322
293
2MT002 2-Methylacetoacetyl Coa Thiolase Deficiency 8 0.322
294
ECZ002 Eczema Herpeticum 45 0.322
295
SKN019 Skin Melanoma 70 0.322
296
c ACT075 Acute Myocardial Infarction 55 0.322
297
PPT005 Peptic Ulcer Disease 58 0.322
298
MLT018 Multiple Carboxylase Deficiency 45 0.322
299
P HYP098 Hypereosinophilic Syndrome 66 0.322
300
ALL014 Allergic Encephalomyelitis 34 0.322
301
WLL004 Wallerian Degeneration 38 0.322
303
P HRP006 Herpes Simplex 65 0.322
304
MLL001 Molluscum Contagiosum 48 0.322
305
ORL011 Oral Cancer 60 0.322
306
ORN004 Ornithinemia 13 0.322
307
c ATM075 Autoimmune Encephalitis 39 0.322
308
TRM010 Traumatic Brain Injury 50 0.322
309
DWR001 Dwarfism 44 0.322
310
NNC012 Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 16 0.322
311
DYS073 Dysphagia 53 0.322
312
P CRB088 Cerebral Atrophy 32 0.322
313
HDN002 Head Injury 44 0.322
314
c ACT134 Acute Liver Failure 57 0.322
315
THY029 Thyroid Carcinoma 55 0.322
Content
Loading form....