Development Level

Tbio 2 | 11,445

IMPC Phenotype

preweaning lethality, complete... 1 | 979

Disease

Carcinoma 2 | 11,493
ovarian cancer 2 | 8,520
Abnormality of cardiovascular system morphology 1 | 23
Acquired scoliosis 1 | 281
Apathy 1 | 16
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 1 | 5
Atypical teratoid rhabdoid tumor 1 | 6
Big calvaria 1 | 147
Breast cancer 1 | 3,578
Broad flat nasal bridge 1 | 236
Bushy eyebrows 1 | 49
Cancer 1 | 2,499
Cerebellar hypoplasia and atrophy 1 | 41
Choroid Plexus Carcinoma 1 | 5
Coarse facial features 1 | 108
Coffin-Siris syndrome 1 | 17
Cognitive delay 1 | 608
Concave bridge of nose 1 | 195
Congenital deafness 1 | 185
Connective tissue cancer 1 | 10
Curvature of spine 1 | 282
Dandy-Walker Syndrome 1 | 39
Deafness 1 | 198
Decreased joint mobility 1 | 53
Delayed eruption of permanent teeth 1 | 8
Dental abnormalities 1 | 60
Depressed nasal bridge 1 | 195
Depressed nasal ridge 1 | 51
Depressed nasal root/bridge 1 | 195
Disturbance of consciousness 1 | 12
Dull intelligence 1 | 645
Epilepsy 1 | 792
Feeding difficulties 1 | 127
Feeding difficulties in infancy 1 | 175
Fetal Growth Retardation 1 | 189
Full lower lip 1 | 64
Generalized hirsutism 1 | 36
Global developmental delay 1 | 608
Hearing Loss, Partial 1 | 185
Hemiplegia and hemiparesis 1 | 38
Hydrocephalus 1 | 152
Hypoplastic fifth fingernail 1 | 5
Hypotrichosis 1 | 47
Increased head circumference 1 | 147
Increased size of cranium 1 | 147
Increased size of skull 1 | 147
Infant, Small for Gestational Age 1 | 176
Intermittent migraine headaches 1 | 68
Intrauterine retardation 1 | 176
Irritation - emotion 1 | 68
Joint hyperflexibility 1 | 78
Kidney cancer 1 | 2,613
Long eyelashes 1 | 37
Low intelligence 1 | 645
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 1 | 1
Macrostomia 1 | 72
Malignant neoplasm of central nervous system 1 | 1
Mental Retardation 1 | 645
Mental and motor retardation 1 | 608
Mental deficiency 1 | 645
Migraine Disorders 1 | 76
Muscle Weakness 1 | 170
Muscle hypotonia 1 | 571
Myoepithelioma 1 | 13
Nasal bridge wide 1 | 236
Nausea and vomiting 1 | 97
Neurilemmoma 1 | 23
Neurilemmomatosis 1 | 5
Neurofibromatosis 1 | 40
Neurofibromatosis 3 1 | 4
Nystagmus 1 | 317
Patella aplasia-hypoplasia 1 | 12
Poor school performance 1 | 645
Prominent lower lip 1 | 64
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 1 | 1
Recurrent respiratory infections 1 | 141
Rhabdoid Tumor 1 | 2
Rhabdoid cancer 1 | 5
Schwannomatosis 1 | 4
Schwannomatosis 1 1 | 2
Seizures 1 | 596
Short distal phalanges 1 | 50
Short stature 1 | 531
Slow-growing hair 1 | 19
Small head 1 | 374
Sparse hair 1 | 59
Strabismus 1 | 270
Thickened facial skin with coarse facial features 1 | 108
Thin, sparse hair 1 | 59
Tooth Abnormalities 1 | 69
Wolf-Hirschhorn syndrome 1 | 32
atypical teratoid/rhabdoid tumor 1 | 357
diabetes mellitus 1 | 1,728
group 3 medulloblastoma 1 | 4,104
hearing impairment 1 | 199
lung cancer 1 | 4,740
medulloblastoma 1 | 720
oligodendroglioma 1 | 2,850
osteosarcoma 1 | 7,950
psoriasis 1 | 6,694

Tissue

Blood and immune system 2 | 16,909
Cardiovascular System 2 | 15,192
Digestive Tract 2 | 17,369
Endocrine System 2 | 18,159
Female tissues 2 | 17,400
Liver and Pancreas 2 | 16,750
Male tissues 2 | 17,142
Nervous System 2 | 16,725
Respiratory system 2 | 16,393
Skin and soft tissues 2 | 17,230
Urinary Tract 2 | 16,678

Target Family

Non-IDG 2 | 12,091

GO Process

single stranded viral RNA repl... 2 | 2
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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