Search results for (S)-Methylmalonic acid semialdehyde

186 hits were found for (S)-Methylmalonic acid semialdehyde

# Family MCID Name MIFTS Score
1
MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 31 80.916
2
P MTH008 Methylmalonic Acidemia 52 71.268
3
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 59 68.704
4
ISL099 Isolated Methylmalonic Acidemia 35 47.268
5
LPD008 Lipid Metabolism Disorder 61 31.125
6
P MPL001 Maple Syrup Urine Disease 69 30.708
7
P HYP769 Hyperlysinemia, Type I 42 30.527
8
GST092 Gastroesophageal Reflux 59 27.087
9
P SZR006 Seizure Disorder 69 25.825
10
RPD005 Rapidly Involuting Congenital Hemangioma 48 25.761
11
NNL005 Non-Alcoholic Fatty Liver Disease 63 24.889
12
P LVR013 Liver Disease 68 24.290
13
HLX001 Helix Syndrome 47 22.977
14
MTB004 Metabolic Acidosis 48 22.777
15
ORG002 Organic Acidemia 43 22.426
16
P NRB001 Neuroblastoma 66 22.237
17
HMC014 Homocysteinemia 52 21.687
18
c INH020 Inherited Metabolic Disorder 47 21.498
19
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 20.987
20
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 20.847
21
48X005 48,xyyy 39 20.741
22
P DBT009 Diabetes Mellitus 67 20.268
23
P CLR023 Colorectal Cancer 100 19.988
24
P BDY004 Body Mass Index Quantitative Trait Locus 11 82 19.983
25
P EPL164 Epilepsy 70 19.948
26
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 19.798
27
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 19.797
28
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 19.797
29
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 19.796
30
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 19.796
31
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 19.796
32
c BDY019 Body Mass Index Quantitative Trait Locus 18 46 19.796
33
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 19.796
34
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 19.791
35
P HPT023 Hepatocellular Carcinoma 95 19.636
36
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 19.413
37
P ENC018 Encephalopathy 62 19.388
38
NRL016 Neural Tube Defects 80 19.381
39
AGN016 Aging 53 19.178
40
P CRN300 Coronary Heart Disease 1 73 18.960
41
HYP056 Hypoglycemia 65 17.934
42
P HYP265 Hypotonia 42 17.549
43
P HMC002 Homocystinuria 52 17.532
44
c HYP836 Hypercholesterolemia, Familial, 1 73 17.500
45
STR067 Stroke, Ischemic 79 17.457
46
PRP001 Propionic Acidemia 65 17.231
47
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 16.645
48
P ALZ034 Alzheimer Disease 87 16.498
49
AMN012 Aminoacidopathies 19 16.321
50
ATS010 Autosomal Recessive Disease 42 16.075
51
END086 End Stage Renal Disease 54 15.769
52
PHN003 Phenylketonuria 76 15.386
53
47X002 47,xyy 47 15.149
54
HRW001 Hair Whorl 35 14.965
55
HYP266 Hypoxia 56 14.888
56
MLR004 Malaria 77 14.879
57
P THR014 Thrombocytopenia 66 14.802
58
ALC007 Alcohol Dependence 65 14.742
59
GYR004 Gyrate Atrophy of Choroid and Retina 58 14.611
60
CRB039 Cerebrovascular Disease 65 14.560
61
P BPL003 Bipolar Disorder 56 14.491
62
P MYP004 Myopathy 67 14.454
63
BCT022 Bacterial Infectious Disease 55 14.277
64
P RTN024 Retinoblastoma 72 14.239
65
STT001 Status Epilepticus 58 13.886
66
P ATS364 Autism 72 13.759
67
c ATS007 Autism Spectrum Disorder 71 13.522
68
PRT251 Proteinuria, Chronic Benign 58 13.503
69
P HYP086 Hypothyroidism 68 13.485
70
P ALC033 Alcohol Use Disorder 67 13.392
71
c HPT001 Hepatitis C 61 13.285
72
P MYC084 Mycobacterium Tuberculosis 1 68 13.254
73
ADL002 Adult Syndrome 69 13.254
74
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 13.197
75
P URN019 Urinary Tract Infection 48 12.937
76
P LCT001 Lactic Acidosis 50 12.657
77
P TRM003 Tremor 50 12.526
78
P PRK039 Parkinsonism 55 12.229
79
P LPS004 Lupus Erythematosus 61 12.147
80
ADR007 Adrenoleukodystrophy 73 12.126
81
c AMY091 Amyotrophic Lateral Sclerosis 1 87 12.104
82
P INF032 Infertility 60 12.101
83
c MGR028 Migraine with or Without Aura 1 63 12.018
84
P DYS154 Dystonia 64 11.957
85
P LTR001 Lateral Sclerosis 57 11.754
86
P LKM062 Leukemia, Acute Lymphoblastic 69 11.482
87
P CTR002 Cataract 59 11.452
88
P RTN016 Retinal Degeneration 52 10.948
89
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 62 10.896
90
c MCR120 Microvascular Complications of Diabetes 7 47 10.679
91
c MCR113 Microvascular Complications of Diabetes 3 52 10.547
92
URM002 Uremia 47 10.491
93
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 10.377
94
c MCR133 Microvascular Complications of Diabetes 4 41 10.370
95
c MCR130 Microvascular Complications of Diabetes 6 41 10.369
96
ANX004 Anoxia 40 9.491
97
ADR022 Adrenomyeloneuropathy 38 9.230
98
P HYD006 Hydrocephalus 62 9.193
99
CLN015 Colon Adenocarcinoma 64 9.188
100
P MCR010 Microcephaly 59 9.022
101
PST092 Posttransplant Acute Limbic Encephalitis 29 8.852
102
P CND004 Candidiasis 57 8.724
103
DPH001 Diphtheria 59 8.721
104
MLD018 Mild Cognitive Impairment 48 8.564
105
HMS001 Hemosiderosis 48 8.527
106
c BRN108 Branchiootic Syndrome 1 63 8.454
107
P SLP005 Sleep Disorder 61 8.263
108
ENT011 Enterocolitis 55 8.259
109
CRB037 Cerebral Palsy 66 7.970
110
LWC002 Lowe Oculocerebrorenal Syndrome 68 7.968
111
P ZLL001 Zellweger Syndrome 65 7.929
112
CLF027 Cleft Palate, Isolated 64 7.929
113
EPL131 Epilepsy, Pyridoxine-Dependent 46 7.822
114
P GLY013 Glycogen Storage Disease 59 7.706
115
P MYC033 Myoclonus 46 7.569
116
PTH003 Pathologic Nystagmus 52 7.429
117
P PLY014 Polycystic Kidney Disease 71 7.216
118
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 7.196
119
P MVM001 Movement Disease 61 7.150
120
VSL002 Visual Epilepsy 39 7.056
121
SPS057 Spasticity 43 7.024
122
CRB011 Cerebrotendinous Xanthomatosis 64 6.882
123
PRX001 Peroxisomal Disease 46 6.638
124
OBS002 Obsessive-Compulsive Disorder 67 6.592
125
GLT035 Glutaric Acidemia I 57 6.574
126
LYS002 Lysosomal Storage Disease 51 6.205
127
XNT003 Xanthomatosis 48 6.181
128
BRN002 Bronchiolitis 57 6.152
129
WST001 West Syndrome 64 5.934
130
HYP080 Hypogonadism 49 5.736
131
KRN002 Kearns-Sayre Syndrome 62 5.717
132
CLF001 Cleft Lip 54 5.620
133
P MTC069 Mitochondrial Disorders 57 5.485
134
P CRB088 Cerebral Atrophy 32 5.315
135
GLY010 Glycine Encephalopathy 57 5.281
136
ORT008 Orotic Aciduria 56 5.217
137
3HY001 3-Hydroxyisobutyric Aciduria 26 5.153
138
HNM002 Hinman Syndrome 29 5.138
139
LRN003 Learning Disability 49 5.120
140
LSC001 Lesch-Nyhan Syndrome 62 5.101
141
PYR009 Pyridoxine Deficiency Anemia 35 5.048
142
ADP007 Adie Pupil 40 4.912
143
HST006 Histidinemia 48 4.891
144
c CNT035 Central Nervous System Disease 53 4.821
145
c HMC039 Hemochromatosis, Type 1 73 4.819
146
P NRC002 Narcolepsy 55 4.806
147
P BRB001 Beriberi 44 4.735
148
P HYP111 Hyperprolinemia 44 4.671
149
BTN003 Biotinidase Deficiency 61 4.547
150
LGH007 Leigh Syndrome 70 4.529
151
NRM022 Neurometabolic Disease 24 4.518
152
SNS003 Sensory Peripheral Neuropathy 51 4.474
153
c 3MT007 3-Methylglutaconic Aciduria 37 4.324
154
P STR020 Strabismus 56 4.281
155
MCH006 Mechanical Strabismus 40 4.279
156
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 4.277
157
CNV004 Canavan Disease 61 4.262
158
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 44 4.255
159
c 2HY001 2-Hydroxyglutaric Aciduria 38 4.151
160
CHR066 Chronic Fatigue Syndrome 59 4.127
161
MVL001 Mevalonic Aciduria 65 4.021
162
WLS001 Wilson Disease 70 3.998
163
c L2H001 L-2-Hydroxyglutaric Aciduria 49 3.908
164
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 63 3.760
165
ERL001 Early Myoclonic Encephalopathy 62 3.702
166
PRM329 Premature Aging 36 3.699
167
c HYP597 Hyperprolinemia, Type Ii 43 3.398
168
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 54 3.342
169
SGW002 Segawa Syndrome, Autosomal Recessive 44 3.265
171
ASP004 Asphyxia Neonatorum 50 3.186
173
SLF014 Sulfite Oxidase Deficiency, Isolated 53 2.811
174
CLF056 Cleft Lip with or Without Cleft Palate 43 2.778
175
PRL019 Prolidase Deficiency 50 2.765
176
P KRB001 Krabbe Disease 69 2.633
177
P HYP263 Hypersomnia 40 2.619
178
P DVL113 Developmental and Epileptic Encephalopathy 46 1.934
179
ORN004 Ornithinemia 13 1.874
180
P KRN004 Kernicterus 47 1.776
181
DXR001 Doxorubicin Induced Cardiomyopathy 32 1.557
182
BSL008 Basal Ganglia Disease 41 1.354
183
P CNG024 Congenital Nystagmus 35 1.125
184
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 63 1.016
185
CRT012 Cortical Blindness 42 0.935
186
FRC001 Fructose-1,6-Bisphosphatase Deficiency 50 0.904
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