Development Level

Tbio 4 | 11,445

IMPC Phenotype

preweaning lethality, complete... 3 | 979
embryonic lethality prior to o... 2 | 239
embryonic lethality prior to t... 2 | 278
abnormal embryo size 1 | 220
abnormal eye morphology 1 | 68
enlarged heart 1 | 210
increased mean corpuscular hem... 1 | 96
short tibia 1 | 97

Disease

Autosomal recessive predisposition 4 | 1,442
Big calvaria 4 | 147
Brain hypomyelination 4 | 11
Central nervous system demyelination 4 | 28
Cessation of head growth 4 | 5
Childhood Ataxia with Central Nervous System Hypomyelinization 4 | 6
Decreased serum progesterone 4 | 5
Delusions 4 | 11
Developmental regression 4 | 95
Dysarthria 4 | 192
Epilepsy 4 | 792
Forgetful 4 | 40
Gait, Unsteady 4 | 29
Increased head circumference 4 | 147
Increased size of cranium 4 | 147
Increased size of skull 4 | 147
Lethargy 4 | 77
Leukodystrophy 4 | 55
Leukoencephalopathies 4 | 29
Leukoencephalopathy with vanishing white matter 4 | 20
Loss of developmental milestones 4 | 95
Memory Loss 4 | 40
Memory impairment 4 | 40
Mental deterioration in childhood 4 | 95
Mood swings 4 | 77
Muscle Spasticity 4 | 195
Muscle hypotonia 4 | 571
Neurodevelopmental regression 4 | 95
OVARIOLEUKODYSTROPHY 4 | 6
Optic Atrophy 4 | 242
Personality change 4 | 23
Premature Menopause 4 | 31
Primary gonadal insufficiency 4 | 9
Psychomotor regression 4 | 95
Psychomotor regression beginning in infancy 4 | 95
Psychomotor regression in infants 4 | 95
Psychomotor regression, progressive 4 | 95
Secondary physiologic amenorrhea 4 | 32
Seizures 4 | 596
Vanishing White Matter Leukodystrophy with Ovarian Failure 4 | 5
Adenocarcinoma of lung 2 | 142
lung cancer 2 | 4,740
ovarian cancer 2 | 8,520
Adenocarcinoma of lung (disorder) 1 | 60
Amenorrhea 1 | 58
Biotinidase deficiency 1 | 14
Carcinoma 1 | 11,493
Cerebellar Ataxia 1 | 304
Disease Models, Animal 1 | 155
Glycine encephalopathy 1 | 29
Mucopolysaccharidosis II 1 | 5
Ovarian dysfunction 1 | 18
Premature ovarian failure 1 | 65
Retrograde amnesia 1 | 5
glioblastoma 1 | 5,792
osteosarcoma 1 | 7,950

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

Non-IDG 4 | 12,091

GO Process

cellular response to stimulus 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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