Development Level

Tbio 13 | 11,445

IMPC Phenotype

preweaning lethality, complete... 2 | 979
abnormal behavior 1 | 298
abnormal behavioral response t... 1 | 66
abnormal embryo size 1 | 220
decreased exploration in new e... 1 | 11
decreased fasted circulating g... 1 | 65
decreased startle reflex 1 | 75
decreased vertical activity 1 | 208
embryonic growth retardation 1 | 106
embryonic lethality prior to t... 1 | 278
increased circulating sodium l... 1 | 71

Disease

ovarian cancer 8 | 8,520
osteosarcoma 4 | 7,950
psoriasis 4 | 6,694
Breast cancer 3 | 3,578
Carcinoma 3 | 11,493
Lactic acidosis 3 | 51
Multiple Mitochondrial Dysfunctions Syndrome 3 | 3
Acidosis, Lactic 2 | 97
Autosomal recessive predisposition 2 | 1,442
Friedreich ataxia 2 | 24
Lactic acidemia 2 | 95
Multiple myeloma 2 | 1,332
Muscle Weakness 2 | 170
Sideroblastic anemia 2 | 20
Xeroderma pigmentosum group D 2 | 33
lung cancer 2 | 4,740
medulloblastoma, large-cell 2 | 6,241
pancreatic ductal adenocarcinoma liver metastasis 2 | 1,962
Abnormal iron deposition in mitochondria 1 | 1
Ampulla of Vater carcinoma 1 | 2
Cognitive delay 1 | 608
Congenital bile acid synthesis defect 1 | 15
Corneal edema 1 | 14
Creatine phosphokinase serum increased 1 | 110
Decreased activities of mitochondrial-encoded respiratory chain complexes 1 | 5
Decreased activity of mitochondrial complex II 1 | 3
Decreased activity of mitochondrial respiratory chain 1 | 5
Decreased activity of mitochondrial respiratory complexes 1 | 5
Decreased mitochondrial complex I activity 1 | 2
Decreased mitochondrial complex III activity 1 | 2
Diphtheria 1 | 40
Dyspnea 1 | 76
Elevated creatine kinase 1 | 110
Endophthalmitis 1 | 12
Failure to gain weight 1 | 365
Feeding difficulties 1 | 127
Genital herpes 1 | 10
Glaucoma 1 | 239
Global developmental delay 1 | 608
Glycine encephalopathy 1 | 29
Idiopathic pulmonary arterial hypertension 1 | 40
Impaired exercise tolerance 1 | 42
Increased intramyocellular lipid droplets 1 | 13
Increased serum lactate 1 | 60
Lethargy 1 | 77
Leukodystrophy 1 | 55
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 1 | 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 1 | 1
MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE 1 | 1
Mental and motor retardation 1 | 608
Mitochondrial Myopathies 1 | 21
Multiple mitochondrial dysfunctions syndrome 1 1 | 1
Muscle Cramp 1 | 55
Myoglobinuria 1 | 15
Myopathy 1 | 185
Myopathy with lactic acidosis, hereditary 1 | 1
Nephroblastoma 1 | 51
Neuroblastoma 1 | 80
Neurodegenerative disease 1 | 414
Palpitations 1 | 18
Pediatric failure to thrive 1 | 365
Pertussis 1 | 20
Pulmonary hypertension 1 | 85
Pyruvate decarboxylase deficiency 1 | 16
Respiratory Failure 1 | 104
Respiratory complex I deficiency 1 | 2
Respiratory complex II deficiency 1 | 3
Respiratory complex III deficiency 1 | 2
SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE 1 | 1
Scrapie 1 | 17
Subsarcolemmal accumulations of abnormally shaped mitochondria 1 | 4
Syndactyly 1 | 88
Tetanus 1 | 68
Xeroderma pigmentosum 1 | 43
astrocytic glioma 1 | 2,597
atypical teratoid / rhabdoid tumor 1 | 5,112
colon cancer 1 | 1,478
glioblastoma 1 | 5,792
group 3 medulloblastoma 1 | 4,104
hereditary spastic paraplegia 1 | 318
infantile cerebellar-retinal degeneration 1 | 3
invasive ductal carcinoma 1 | 2,951
primitive neuroectodermal tumor 1 | 3,035
pulmonary arterial hypertension 1 | 75

Tissue

Blood and immune system 13 | 16,909
Cardiovascular System 13 | 15,192
Digestive Tract 13 | 17,369
Endocrine System 13 | 18,159
Female tissues 13 | 17,400
Liver and Pancreas 13 | 16,750
Male tissues 13 | 17,142
Nervous System 13 | 16,725
Respiratory system 13 | 16,393
Skin and soft tissues 13 | 17,230
Urinary Tract 13 | 16,678

Target Family

Non-IDG 12 | 12,091
Enzyme 1 | 4,145

GO Process

iron-sulfur cluster assembly 13 | 13
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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