Development Level

Tbio 4 | 11,651

IMPC Phenotype

decreased mean corpuscular vol... 1 | 79
decreased total body fat amoun... 1 | 207
decreased vertical activity 1 | 208
increased lean body mass 1 | 172
preweaning lethality, complete... 1 | 979

Disease

Carcinoma 3 | 11,493
astrocytic glioma 3 | 2,597
glioblastoma 3 | 5,792
group 3 medulloblastoma 3 | 4,104
medulloblastoma, large-cell 3 | 6,241
ovarian cancer 3 | 8,520
Autosomal recessive predisposition 2 | 1,442
Cerebellar Ataxia 2 | 304
Cognitive delay 2 | 608
Global developmental delay 2 | 608
Mental and motor retardation 2 | 608
Methylmalonic acidemia 2 | 37
Muscle hypotonia 2 | 571
Neurogenic Muscular Atrophy 2 | 139
Neurogenic muscle atrophy, especially in the lower limbs 2 | 139
Obesity 2 | 678
Short stature 2 | 531
Skeletal muscle atrophy 2 | 139
atypical teratoid / rhabdoid tumor 2 | 5,112
ependymoma 2 | 4,679
malignant mesothelioma 2 | 3,232
muscle degeneration 2 | 139
oligodendroglioma 2 | 2,850
pancreatic ductal adenocarcinoma liver metastasis 2 | 1,962
psoriasis 2 | 6,694
ulcerative colitis 2 | 1,819
Abnormal behavior 1 | 52
Abnormal urinary amino-acid findings 1 | 38
Abnormal visual evoked potential 1 | 26
Acidosis, Lactic 1 | 97
Acquired metabolic disease 1 | 336
Adenocarcinoma of lung 1 | 142
Aminoaciduria 1 | 38
Astrocytoma, Pilocytic 1 | 3,081
Athetosis 1 | 16
Blepharoptosis 1 | 231
Cachexia 1 | 50
Cellulitis 1 | 20
Cerebral atrophy 1 | 178
Cerebral calcification 1 | 43
Cholera 1 | 34
Creatine phosphokinase serum increased 1 | 110
Deafness dystonia syndrome 1 | 21
Death in childhood 1 | 14
Decreased nerve conduction velocity 1 | 35
Decreased tendon reflex 1 | 122
Degenerative brain disorder 1 | 100
Dilated ventricles (finding) 1 | 121
Disease Models, Animal 1 | 155
Down syndrome 1 | 499
Dystonia 1 | 164
Dystonic disease 1 | 106
Elevated creatine kinase 1 | 110
Encephalopathy, progressive 1 | 6
Endometriosis 1 | 540
Epilepsy 1 | 792
Failure to gain weight 1 | 365
Generalized hirsutism 1 | 36
Griscelli syndrome type 3 1 | 13
Gross motor development delay 1 | 21
Heart conduction disease 1 | 83
Increased serum lactate 1 | 60
Infantile onset 1 | 238
Irritation - emotion 1 | 68
Lactic acidemia 1 | 95
Lactic acidosis 1 | 51
Leigh disease 1 | 100
Low Vision 1 | 174
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 1 | 5
Metabolic acidosis 1 | 90
Methylmalonic aciduria 1 | 9
Movement Disorders 1 | 55
Muscle Hypertonia 1 | 88
Muscle Spasticity 1 | 195
Neuropathy 1 | 261
Ophthalmoplegia 1 | 106
Orotic aciduria 1 | 18
Pediatric failure to thrive 1 | 365
Peripheral Neuropathy 1 | 134
Pharyngitis 1 | 17
Pick disease 1 | 1,894
Primary hyperoxaluria 1 | 15
Progressive brain disease 1 | 6
Progressive mental retardation 1 | 37
Refractive error 1 | 50
Seizures 1 | 596
Sensorineural Hearing Loss (disorder) 1 | 284
Sideroblastic anemia 1 | 20
Strabismus 1 | 270
Supratentorial atrophy 1 | 94
Visual Impairment 1 | 174
Waldenstrons macroglobulinemia 1 | 765
astrocytoma 1 | 1,146
colon cancer 1 | 1,478
dermatomyositis 1 | 966
hereditary spastic paraplegia 1 | 318
lung adenocarcinoma 1 | 2,716
mucosa-associated lymphoid tissue lymphoma 1 | 484
subependymal giant cell astrocytoma 1 | 2,287
tuberculosis 1 | 2,010

Tissue

Blood and immune system 4 | 16,909
Cardiovascular System 4 | 15,192
Digestive Tract 4 | 17,369
Endocrine System 4 | 18,159
Female tissues 4 | 17,400
Liver and Pancreas 4 | 16,750
Male tissues 4 | 17,142
Nervous System 4 | 16,725
Respiratory system 4 | 16,393
Skin and soft tissues 4 | 17,230
Urinary Tract 4 | 16,678

Target Family

Enzyme 4 | 4,145

GO Process

succinyl-CoA metabolic process 4 | 4
transcription, DNA-templated 1,742 | 1,742
regulation of transcription, D... 1,135 | 1,135
G-protein coupled receptor sig... 1,053 | 1,053
signal transduction 1,005 | 1,005
positive regulation of transcr... 932 | 932
negative regulation of transcr... 683 | 683
positive regulation of transcr... 529 | 529
apoptotic process 511 | 511
cell differentiation 511 | 511
negative regulation of transcr... 492 | 492
neutrophil degranulation 484 | 484
negative regulation of apoptot... 479 | 479
positive regulation of cell pr... 470 | 470
innate immune response 469 | 469
multicellular organism develop... 460 | 460
cell adhesion 458 | 458
immune response 426 | 426
viral process 405 | 405
negative regulation of cell pr... 398 | 398
spermatogenesis 389 | 389
intracellular signal transduct... 376 | 376
inflammatory response 373 | 373
cell proliferation 366 | 366
post-translational protein mod... 356 | 356
protein transport 348 | 348
protein ubiquitination 347 | 347
cell division 345 | 345
regulation of transcription fr... 345 | 345
protein phosphorylation 334 | 334
nervous system development 321 | 321
positive regulation of apoptot... 320 | 320
response to drug 303 | 303
cell-cell signaling 300 | 300
positive regulation of gene ex... 297 | 297
transcription from RNA polymer... 286 | 286
protein deubiquitination 271 | 271
cell cycle 268 | 268
regulation of immune response 259 | 259
transport 255 | 255
regulation of apoptotic proces... 250 | 250
MAPK cascade 242 | 242
cell surface receptor signalin... 239 | 239
mRNA splicing, via spliceosome 236 | 236
protein polyubiquitination 222 | 222
angiogenesis 220 | 220
chemical synaptic transmission 219 | 219
cellular response to DNA damag... 217 | 217
proteolysis 217 | 217
proteasome-mediated ubiquitin-... 210 | 210
adaptive immune response 209 | 209
intracellular protein transpor... 209 | 209
DNA repair 206 | 206
leukocyte migration 206 | 206
protein homooligomerization 206 | 206
rRNA processing 204 | 204
extracellular matrix organizat... 198 | 198
visual perception 198 | 198
positive regulation of ERK1 an... 194 | 194
cellular protein metabolic pro... 192 | 192
brain development 188 | 188
axon guidance 186 | 186
Fc-epsilon receptor signaling ... 182 | 182
keratinization 182 | 182
cell migration 181 | 181
defense response to virus 181 | 181
positive regulation of cell mi... 179 | 179
regulation of cell proliferati... 177 | 177
in utero embryonic development 176 | 176
Wnt signaling pathway 175 | 175
cilium assembly 175 | 175
blood coagulation 170 | 170
RNA splicing 169 | 169
translation 169 | 169
mRNA processing 168 | 168
protein autophosphorylation 168 | 168
aging 167 | 167
response to hypoxia 166 | 166
T cell receptor signaling path... 164 | 164
heart development 164 | 164
negative regulation of canonic... 164 | 164
positive regulation of I-kappa... 164 | 164
ubiquitin-dependent protein ca... 164 | 164
ER to Golgi vesicle-mediated t... 162 | 162
protein stabilization 160 | 160
response to lipopolysaccharide 160 | 160
transcription initiation from ... 160 | 160
defense response to bacterium 159 | 159
protein folding 159 | 159
sensory perception of smell 157 | 157
homophilic cell adhesion via p... 156 | 156
transmembrane transport 154 | 154
negative regulation of gene ex... 151 | 151
interferon-gamma-mediated sign... 150 | 150
receptor-mediated endocytosis 150 | 150
ion transmembrane transport 148 | 148
peptidyl-serine phosphorylatio... 148 | 148
positive regulation of protein... 148 | 148
antigen processing and present... 143 | 143
DNA replication 142 | 142
cell cycle arrest 142 | 142

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