Development Level

Tdark 13 | 6,593
Tbio 5 | 11,651

IMPC Phenotype

abnormal vertebrae morphology 1 | 18
decreased body weight 1 | 161
decreased circulating glycerol... 1 | 16
increased circulating triglyce... 1 | 42
increased startle reflex 1 | 112
preweaning lethality, complete... 1 | 979
tremors 1 | 39

Disease

Carcinoma 6 | 11,493
psoriasis 5 | 6,694
Kidney cancer 4 | 2,613
group 3 medulloblastoma 4 | 4,104
malignant mesothelioma 3 | 3,232
osteosarcoma 3 | 7,950
ovarian cancer 3 | 8,519
Acquired scoliosis 2 | 281
Cancer 2 | 2,499
Coffin-Siris syndrome 2 | 17
Curvature of spine 2 | 282
Intellectual disability 2 | 1,016
Short stature 2 | 531
atypical teratoid / rhabdoid tumor 2 | 5,112
interstitial cystitis 2 | 2,312
medulloblastoma, large-cell 2 | 6,241
progressive supranuclear palsy 2 | 676
Abnormality of the ribs 1 | 32
Adenocarcinoma in situ 1 | 15
Aortic Valve Insufficiency 1 | 40
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
Bushy eyebrows 1 | 49
Cerebellar hypoplasia and atrophy 1 | 41
Choroid Plexus Carcinoma 1 | 5
Chromosome 2p16.1-p15 deletion syndrome 1 | 8
Coarse facial features 1 | 108
Congenital deafness 1 | 185
Connective tissue cancer 1 | 10
Convex nasal ridge 1 | 37
Deafness 1 | 198
Decreased projection of midface 1 | 105
Delayed eruption of permanent teeth 1 | 8
Dental abnormalities 1 | 60
Disturbance of consciousness 1 | 12
Emery-Dreifuss muscular dystrophy 1 | 23
Full lower lip 1 | 64
Generalized hirsutism 1 | 36
Hearing Loss, Partial 1 | 185
Hemiplegia and hemiparesis 1 | 38
Hypotrichosis 1 | 47
Hypotrophic malar bone 1 | 129
Hypotrophic midface 1 | 105
Idiopathic pulmonary arterial hypertension 1 | 40
Inadequate arch length for tooth size 1 | 45
Increased head circumference 1 | 147
Increased size of cranium 1 | 147
Increased size of skull 1 | 147
Intermittent migraine headaches 1 | 68
Irritation - emotion 1 | 68
Joint stiffness 1 | 84
Left ventricular noncompaction 1 | 26
Long eyelashes 1 | 37
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 1 | 1
Malar flattening 1 | 129
Malignant neoplasm of central nervous system 1 | 1
Midface retrusion 1 | 105
Migraine Disorders 1 | 76
Mitral valve insufficiency 1 | 49
Muscle Weakness 1 | 170
Myoepithelioma 1 | 13
Nausea and vomiting 1 | 97
Neurilemmoma 1 | 23
Neurilemmomatosis 1 | 5
Neurofibromatosis 1 | 40
Neurofibromatosis 3 1 | 4
Osmotic diarrhea 1 | 3
Osteoporosis 1 | 363
Parametritis 1 | 3
Patella aplasia-hypoplasia 1 | 12
Periodontal disease 1 | 40
Pneumoconiosis 1 | 15
Progeria 1 | 25
Prominent globes 1 | 96
Prominent lower lip 1 | 64
Protruding eyes 1 | 96
Pulmonary hypertension 1 | 86
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 1 | 1
Recurrent respiratory infections 1 | 141
Rhabdoid Tumor 1 | 2
Rhabdoid cancer 1 | 5
Right bundle branch block 1 | 17
Schnyder Corneal Dystrophy 1 | 23
Schwannomatosis 1 | 4
Short distal phalanges 1 | 50
Slow-growing hair 1 | 19
Small midface 1 | 105
Sparse eyebrow 1 | 42
Sparse eyelashes 1 | 31
Spotty hyperpigmentation 1 | 3
Thickened facial skin with coarse facial features 1 | 108
Tooth Abnormalities 1 | 69
Tooth Crowding 1 | 45
Tooth mass arch size discrepancy 1 | 45
Tooth size discrepancy 1 | 45
Vaccinia 1 | 36
hearing impairment 1 | 199
inflammatory breast cancer 1 | 286

Tissue

Blood and immune system 9 | 16,909
Cardiovascular System 9 | 15,192
Digestive Tract 9 | 17,369
Endocrine System 9 | 18,159
Female tissues 9 | 17,400
Liver and Pancreas 9 | 16,750
Male tissues 9 | 17,142
Nervous System 9 | 16,725
Respiratory system 9 | 16,393
Skin and soft tissues 9 | 17,230
Urinary Tract 9 | 16,678

Target Family

Enzyme 10 | 4,145
Non-IDG 6 | 12,091
Epigenetic 1 | 242
Transcription Factor 1 | 1,400

GO Process

DNA integration 18 | 18
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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