Development Level

Tbio 12 | 11,445
Tdark 5 | 6,588

IMPC Phenotype

preweaning lethality, complete... 6 | 979
embryonic lethality prior to o... 2 | 239
embryonic lethality prior to t... 2 | 278
abnormal vibrissa morphology 1 | 25
decreased bone mineral content 1 | 151
decreased circulating HDL chol... 1 | 68
decreased eosinophil cell numb... 1 | 24
decreased lean body mass 1 | 135
enlarged heart 1 | 210
impaired glucose tolerance 1 | 75
increased total body fat amoun... 1 | 134
prenatal lethality prior to he... 1 | 87

Disease

osteosarcoma 9 | 7,950
ovarian cancer 9 | 8,520
Carcinoma 6 | 11,493
Intellectual disability 6 | 1,016
lung cancer 6 | 4,740
medulloblastoma, large-cell 6 | 6,241
Epilepsy 5 | 792
psoriasis 5 | 6,694
Autosomal recessive predisposition 4 | 1,442
Iridogoniodysgenesis syndrome 4 | 9
Seizures 4 | 596
Breast cancer 3 | 3,578
Byzanthine arch palate 3 | 194
Cerebral atrophy 3 | 178
Concave bridge of nose 3 | 195
Depressed nasal bridge 3 | 195
Depressed nasal root/bridge 3 | 195
Hyperphosphatasia with Mental Retardation 3 | 5
Hypoplastic mandible condyle 3 | 275
Mandibular hypoplasia 3 | 275
Micrognathism 3 | 275
Overfolded helix 3 | 24
Paroxysmal nocturnal hemoglobinuria 3 | 10
atypical teratoid / rhabdoid tumor 3 | 5,112
ependymoma 3 | 4,679
glioblastoma 3 | 5,792
malignant mesothelioma 3 | 3,232
primitive neuroectodermal tumor 3 | 3,035
tuberculosis 3 | 2,010
Absent speech 2 | 43
Anteverted nostril 2 | 191
Atrial Septal Defects 2 | 85
Big calvaria 2 | 147
Bilateral fifth finger clinodactyly 2 | 110
Broad flat nasal bridge 2 | 236
Cerebellar Hypoplasia 2 | 61
Cleft Palate 2 | 271
Coarse facial features 2 | 108
Cognitive delay 2 | 608
Congenital Epicanthus 2 | 177
Congenital diaphragmatic hernia 2 | 67
Congenital muscular dystrophy 2 | 29
Curvature of little finger 2 | 110
Death in early childhood 2 | 82
Death in infancy 2 | 82
Dull intelligence 2 | 645
Global developmental delay 2 | 608
Hydronephrosis 2 | 89
Hyperreflexia 2 | 209
Hypotrophic malar bone 2 | 129
Increased head circumference 2 | 147
Increased size of cranium 2 | 147
Increased size of skull 2 | 147
Inverted V-shaped upper lip 2 | 19
Large for gestational age 2 | 11
Low intelligence 2 | 645
Macrostomia 2 | 72
Malar flattening 2 | 129
Mental Retardation 2 | 645
Mental and motor retardation 2 | 608
Mental deficiency 2 | 645
Micronychia (disorder) 2 | 24
Multiple myeloma 2 | 1,332
Muscle hypotonia 2 | 571
Nasal bridge wide 2 | 236
Orbital separation excessive 2 | 244
Pick disease 2 | 1,894
Poor school performance 2 | 645
Postnatal microcephaly 2 | 24
Prenatal onset 2 | 139
Proteinuria 2 | 144
Short neck 2 | 140
Short nose 2 | 132
Short philtrum 2 | 53
Small nose 2 | 132
Tented mouth 2 | 19
Tented upper lip 2 | 19
Tetralogy of Fallot 2 | 63
Thickened facial skin with coarse facial features 2 | 108
Thin upper lip vermilion 2 | 67
Upward slant of palpebral fissure 2 | 75
Uranostaphyloschisis 2 | 167
West Syndrome 2 | 28
Widely spaced teeth 2 | 31
acute myeloid leukemia 2 | 783
cutaneous lupus erythematosus 2 | 1,057
group 3 medulloblastoma 2 | 4,104
hepatocellular carcinoma 2 | 547
interstitial cystitis 2 | 2,312
intraductal papillary-mucinous adenoma (IPMA) 2 | 2,955
lung carcinoma 2 | 2,843
medulloblastoma 2 | 720
nonverbal 2 | 43
subependymal giant cell astrocytoma 2 | 2,287
Chromosome 17q12 deletion syndrome 1 | 16
Imperforate anus 1 | 25
Paget's disease of bone 1 | 36
Palmoplantar keratosis 1 | 74
Pre-Eclampsia 1 | 68
Sudden infant death syndrome 1 | 32

Tissue

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

Target Family

Enzyme 13 | 4,145
Non-IDG 4 | 12,091

GO Process

preassembly of GPI anchor in E... 17 | 17
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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