Development Level

Tbio 6 | 11,445
Tchem 2 | 1,598
Tclin 1 | 613
Tdark 1 | 6,588

IMPC Phenotype

abnormal embryo size 1 | 220
decreased body weight 1 | 161
decreased circulating aspartat... 1 | 34
decreased grip strength 1 | 116
preweaning lethality, complete... 1 | 979

Disease

Carcinoma 7 | 11,493
ovarian cancer 7 | 8,520
osteosarcoma 6 | 7,950
medulloblastoma, large-cell 4 | 6,241
psoriasis 4 | 6,694
Intellectual disability 3 | 1,016
astrocytic glioma 3 | 2,597
colon cancer 3 | 1,478
glioblastoma 3 | 5,792
subependymal giant cell astrocytoma 3 | 2,287
Anemia 2 | 365
Autosomal recessive predisposition 2 | 1,442
Cancer 2 | 2,499
Dry skin 2 | 75
Dull intelligence 2 | 645
Ectropion 2 | 38
Kidney cancer 2 | 2,613
Low intelligence 2 | 645
Mental Retardation 2 | 645
Mental deficiency 2 | 645
Multiple myeloma 2 | 1,332
Neurodegeneration with brain iron accumulation 5 2 | 9
Poor school performance 2 | 645
Schizophrenia 2 | 1,160
Xerosis 2 | 75
adult high grade glioma 2 | 3,801
atypical teratoid / rhabdoid tumor 2 | 5,112
dermatomyositis 2 | 966
group 3 medulloblastoma 2 | 4,104
invasive ductal carcinoma 2 | 2,951
lung cancer 2 | 4,740
malignant mesothelioma 2 | 3,232
tuberculosis 2 | 2,010
Abdominal Pain 1 | 98
Abnormal helices 1 | 11
Age related macular degeneration 1 | 72
Anhidrosis 1 | 23
Autonomic nervous system disorders 1 | 19
Autosomal recessive congenital ichthyosis 1 | 11
Centronuclear myopathy 1 | 27
Cloudy cornea 1 | 33
Congenital ichthyosiform erythroderma 1 | 28
Corneal erosion 1 | 16
Corneal stromal opacities 1 | 33
Coronary stenosis 1 | 8
Decreased pain sensation 1 | 17
Dysautonomia 1 | 20
Everted lower lip vermilion 1 | 54
Focal dermal hypoplasia 1 | 8
Frontal release signs 1 | 3
Hair shaft abnormalities 1 | 30
Hemiplegia and hemiparesis 1 | 38
Hepatosplenomegaly 1 | 22
High density lipoprotein decreased 1 | 10
Hyperkeratosis 1 | 50
Hyperlipidemia 1 | 43
Hypertriglyceridemia result 1 | 37
Hypoalphalipoproteinemias 1 | 10
Kidney Failure, Chronic 1 | 46
Lack of skin elasticity 1 | 10
Left Ventricular Hypertrophy 1 | 47
Lethargy 1 | 77
Lipidoses 1 | 19
Lipoidosis 1 | 19
Lymphadenopathy 1 | 62
Metabolic syndrome X 1 | 52
Microphthalmia 1 | 76
Mucopolysaccharidosis III 1 | 7
Muscle Rigidity 1 | 49
Myocardial Infarction 1 | 151
Nail Diseases 1 | 24
Nail abnormality 1 | 22
Nerve Degeneration 1 | 121
Neuro-degenerative disease 1 | 43
Neurodegeneration with brain iron accumulation 1 | 20
Neurodegeneration with brain iron accumulation (NBIA) 1 | 2
Neurodegenerative Disorders 1 | 79
Orbital cyst 1 | 8
Ovarian Neoplasms 1 | 102
Palmoplantar keratosis 1 | 74
Paralysed 1 | 42
Paraparesis, Spastic 1 | 16
Parkinsonian Disorders 1 | 56
Peripheral Neuropathy 1 | 134
Peripheral demyelination 1 | 16
Poor speech 1 | 37
Problems speaking 1 | 37
Progressive peripheral neuropathy 1 | 3
Protruding lower lip 1 | 54
Pruritus 1 | 58
Retinitis pigmentosa 10 1 | 6
Sitosterolemia 1 | 9
Stretched skin 1 | 10
Tangier disease 1 | 10
Vici syndrome 1 | 14
Weight Loss 1 | 24
X-linked dominant 1 | 57
alcohol-related neurodevelopmental disorder 1 | 13
hair abnormalities (non-specific) 1 | 30
sarcoidosis 1 | 370

Tissue

Blood and immune system 10 | 16,909
Digestive Tract 10 | 17,369
Endocrine System 10 | 18,159
Female tissues 10 | 17,400
Liver and Pancreas 10 | 16,750
Male tissues 10 | 17,142
Nervous System 10 | 16,725
Skin and soft tissues 10 | 17,230
Urinary Tract 10 | 16,678
Cardiovascular System 9 | 15,192
Respiratory system 9 | 16,393

Target Family

Non-IDG 6 | 12,091
Enzyme 2 | 4,145
Kinase 1 | 634
Transporter 1 | 473

GO Process

protein lipidation 10 | 10
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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