Development Level

Tbio 14 | 11,445
Tclin 5 | 613
Tdark 4 | 6,588
Tchem 1 | 1,598

IMPC Phenotype

preweaning lethality, complete... 4 | 979
embryonic lethality prior to t... 2 | 278
abnormal behavior 1 | 298
abnormal embryo size 1 | 220
abnormal lens morphology 1 | 81
abnormal seminal vesicle morph... 1 | 114
abnormal sleep behavior 1 | 70
abnormal tail movements 1 | 12
cataract 1 | 92
decreased circulating choleste... 1 | 93
decreased circulating triglyce... 1 | 79
decreased erythrocyte cell num... 1 | 62
decreased lactate dehydrogenas... 1 | 16
decreased vertical activity 1 | 208
embryonic growth retardation 1 | 106
embryonic lethality prior to o... 1 | 239
enlarged heart atrium 1 | 4
hypoactivity 1 | 132
impaired righting response 1 | 26
increased circulating calcium ... 1 | 34
increased circulating phosphat... 1 | 26
increased heart weight 1 | 62
increased lean body mass 1 | 172
increased total body fat amoun... 1 | 134
preweaning lethality, incomple... 1 | 499

Disease

Carcinoma 13 | 11,493
osteosarcoma 13 | 7,950
ovarian cancer 10 | 8,520
intraductal papillary-mucinous neoplasm (IPMN) 9 | 3,291
psoriasis 9 | 6,694
medulloblastoma, large-cell 8 | 6,241
Acidosis, Lactic 7 | 97
Autosomal recessive predisposition 7 | 1,442
Blepharoptosis 7 | 231
Cerebellar Ataxia 7 | 304
Epilepsy 7 | 792
Failure to gain weight 7 | 365
Lactic acidemia 7 | 95
Leigh disease 7 | 100
Pediatric failure to thrive 7 | 365
Sensorineural Hearing Loss (disorder) 7 | 284
astrocytic glioma 7 | 2,597
atypical teratoid / rhabdoid tumor 7 | 5,112
glioblastoma 7 | 5,792
CSF lactate increased 6 | 33
Cognitive delay 6 | 608
Global developmental delay 6 | 608
Hypertrophic Cardiomyopathy 6 | 117
Increased serum lactate 6 | 60
Leigh syndrome 6 | 28
Mental and motor retardation 6 | 608
Muscle Spasticity 6 | 195
Muscle hypotonia 6 | 571
Optic Atrophy 6 | 242
Respiratory Failure 6 | 104
Seizures 6 | 596
lung cancer 6 | 4,740
Cancer 5 | 2,499
Diabetes mellitus type 2 5 | 69
Dull intelligence 5 | 645
Dystonia 5 | 164
Dystonic disease 5 | 106
Highly variable clinical phenotype 5 | 150
Highly variable phenotype and severity 5 | 150
Highly variable phenotype, even within families 5 | 150
Hyperreflexia 5 | 209
Impaired exercise tolerance 5 | 42
Intellectual disability 5 | 1,016
Low intelligence 5 | 645
Mental Retardation 5 | 645
Mental deficiency 5 | 645
Mitochondrial Complex 1 Deficiency 5 | 28
Mitochondrial complex I deficiency 5 | 46
Mood swings 5 | 77
NADH:Q(1) Oxidoreductase deficiency 5 | 24
Nystagmus 5 | 317
Ophthalmoplegia 5 | 106
Phenotypic variability 5 | 150
Poor school performance 5 | 645
Retinitis Pigmentosa 5 | 226
Strabismus 5 | 270
Treatment Refractory Type 2 Diabetes Mellitus 5 | 53
ependymoma 5 | 4,679
lung adenocarcinoma 5 | 2,716
non-small cell lung cancer 5 | 2,890
pancreatic ductal adenocarcinoma liver metastasis 5 | 1,962
Abnormal mitochondria in muscle tissue 4 | 20
Abnormal respiratory patterns 4 | 20
Brain Edema 4 | 50
Central nervous system demyelination 4 | 28
Cerebral Edema 4 | 30
Comatose 4 | 56
Developmental regression 4 | 95
Dysarthria 4 | 192
Gliosis 4 | 56
Growth delay 4 | 114
Growth failure 4 | 114
Growth retardation 4 | 115
Hepatocellular necrosis 4 | 14
Hypertrichosis 4 | 46
Infantile onset 4 | 238
Loss of developmental milestones 4 | 95
Mental deterioration in childhood 4 | 95
Mitochondrial encephalomyopathy 4 | 15
Muscle Weakness 4 | 170
Neurodevelopmental regression 4 | 95
Neurogenic Muscular Atrophy 4 | 139
Neurogenic muscle atrophy, especially in the lower limbs 4 | 139
Poor growth 4 | 114
Progressive disorder 4 | 142
Psychomotor regression 4 | 95
Psychomotor regression beginning in infancy 4 | 95
Psychomotor regression in infants 4 | 95
Psychomotor regression, progressive 4 | 95
Schizophrenia 4 | 1,160
Skeletal muscle atrophy 4 | 139
Very poor growth 4 | 114
adult high grade glioma 4 | 3,801
intraductal papillary-mucinous adenoma (IPMA) 4 | 2,955
intraductal papillary-mucinous carcinoma (IPMC) 4 | 2,989
invasive ductal carcinoma 4 | 2,951
malignant mesothelioma 4 | 3,232
medulloblastoma 4 | 720
muscle degeneration 4 | 139
oligodendroglioma 4 | 2,850

Tissue

Blood and immune system 24 | 16,909
Cardiovascular System 24 | 15,192
Digestive Tract 24 | 17,369
Endocrine System 24 | 18,159
Female tissues 24 | 17,400
Liver and Pancreas 24 | 16,750
Male tissues 24 | 17,142
Nervous System 24 | 16,725
Respiratory system 24 | 16,393
Skin and soft tissues 24 | 17,230
Urinary Tract 24 | 16,678

Target Family

Enzyme 12 | 4,145
Non-IDG 8 | 12,091
Transporter 2 | 473
Nuclear Receptor 1 | 48
Transcription Factor 1 | 1,400

GO Process

cellular respiration 24 | 24
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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