Development Level

Tbio 11 | 11,445
Tclin 2 | 613
Tdark 1 | 6,588

IMPC Phenotype

preweaning lethality, complete... 5 | 979
abnormal behavior 1 | 298
abnormal kidney morphology 1 | 65
abnormal retinal blood vessel ... 1 | 26
abnormal retinal vasculature m... 1 | 27
decreased heart weight 1 | 27
decreased lean body mass 1 | 135
decreased mean platelet volume 1 | 25
embryonic lethality prior to o... 1 | 239
increased circulating alkaline... 1 | 122
increased circulating sodium l... 1 | 71
increased heart weight 1 | 62

Disease

Carcinoma 9 | 11,493
osteosarcoma 8 | 7,950
medulloblastoma, large-cell 7 | 6,241
ovarian cancer 6 | 8,520
pancreatic ductal adenocarcinoma liver metastasis 6 | 1,962
Autosomal recessive predisposition 5 | 1,442
Muscle hypotonia 5 | 571
Big calvaria 4 | 147
Congenital Bilateral Cataracts 4 | 50
Congenital cataract 4 | 50
Gliosis 4 | 56
Increased head circumference 4 | 147
Increased size of cranium 4 | 147
Increased size of skull 4 | 147
Muscle Weakness 4 | 170
Amino acid metabolic disorder 3 | 5
Auricular malformation 3 | 41
Cerebellar Ataxia 3 | 304
Cognitive delay 3 | 608
Concave bridge of nose 3 | 195
Congenital anomaly of face 3 | 56
Congenital hypoplasia of lung 3 | 48
Defective dehydrogenation of isovaleryl CoA and butyryl CoA 3 | 3
Depressed nasal bridge 3 | 195
Depressed nasal root/bridge 3 | 195
Distortion of face 3 | 46
Dull intelligence 3 | 645
Dysmorphic facies 3 | 46
Electron transfer flavoprotein-ubiquinone oxidoreductase defect 3 | 3
Ethylmalonic aciduria 3 | 6
Fatigue 3 | 182
Funny looking face 3 | 46
Generalized aminoaciduria 3 | 9
Global developmental delay 3 | 608
Glutaric acidemia 3 | 4
Glutaric aciduria 3 | 5
Glycosuria 3 | 29
Hepatomegaly 3 | 285
High forehead 3 | 102
Hypoglycemia 3 | 152
Hypoglycemic coma 3 | 10
Icterus 3 | 82
Intellectual disability 3 | 1,016
Low intelligence 3 | 645
Mental Retardation 3 | 645
Mental and motor retardation 3 | 608
Mental deficiency 3 | 645
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 3 | 3
Multiple acyl-CoA dehydrogenase deficiency 3 | 25
Nausea 3 | 20
Neonatal Death 3 | 14
Pachygyria 3 | 41
Periportal hepatic necrosis 3 | 3
Polycystic Kidney - body part 3 | 18
Polycystic Kidney Diseases 3 | 20
Poor school performance 3 | 645
Proximal tubulopathy 3 | 9
Renal cortical cysts 3 | 4
Respiratory distress 3 | 43
Schizophrenia 3 | 1,160
Simple ear 3 | 41
Steatohepatitis 3 | 44
Tall forehead 3 | 102
Telecanthus 3 | 62
Vomiting 3 | 116
Wide anterior fontanel 3 | 44
adult high grade glioma 3 | 3,801
atypical teratoid / rhabdoid tumor 3 | 5,112
colon cancer 3 | 1,478
facial deformity 3 | 46
genital abnormal 3 | 17
glioblastoma 3 | 5,792
group 3 medulloblastoma 3 | 4,104
intraductal papillary-mucinous neoplasm (IPMN) 3 | 3,291
non-small cell lung cancer 3 | 2,890
reproductive system abnormality 3 | 17
Adult onset 2 | 82
Autistic Disorder 2 | 364
Blepharoptosis 2 | 231
Constipation 2 | 181
Degenerative polyarthritis 2 | 115
Dyschezia 2 | 135
Epilepsy 2 | 792
Highly variable clinical phenotype 2 | 150
Highly variable phenotype and severity 2 | 150
Highly variable phenotype, even within families 2 | 150
Impaired cognition 2 | 96
Impaired exercise tolerance 2 | 42
Infantile onset 2 | 238
Mental impairment 2 | 95
Muscle Spasticity 2 | 195
Osteoarthritis 2 | 184
Parkinson's disease 2 | 392
Phenotypic variability 2 | 150
Progressive disorder 2 | 142
Stomach Neoplasms 2 | 300
active ulcerative colitis 2 | 764
adrenocortical carcinoma 2 | 1,428
breast carcinoma 2 | 1,638
hereditary spastic paraplegia 2 | 318

Tissue

Blood and immune system 14 | 16,909
Cardiovascular System 14 | 15,192
Digestive Tract 14 | 17,369
Endocrine System 14 | 18,159
Female tissues 14 | 17,400
Liver and Pancreas 14 | 16,750
Male tissues 14 | 17,142
Nervous System 14 | 16,725
Respiratory system 14 | 16,393
Skin and soft tissues 14 | 17,230
Urinary Tract 14 | 16,678

Target Family

Enzyme 7 | 4,145
Non-IDG 6 | 12,091
Kinase 1 | 634

GO Process

respiratory electron transport... 14 | 14
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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