Development Level

Tbio 5 | 11,445

IMPC Phenotype

increased mean corpuscular hem... 1 | 36
preweaning lethality, complete... 1 | 979

Disease

Carcinoma 3 | 11,493
osteosarcoma 3 | 7,950
malignant mesothelioma 2 | 3,232
ovarian cancer 2 | 8,520
pancreatic ductal adenocarcinoma liver metastasis 2 | 1,962
tuberculosis and treatment for 3 months 2 | 179
Abnormality of peripheral nerve conduction 1 | 4
Abnormally small eyeball 1 | 97
Action Tremor 1 | 22
Autosomal recessive limb-girdle muscular dystrophy type 2C 1 | 2
Autosomal recessive predisposition 1 | 1,442
Babinski Reflex 1 | 100
Breast cancer 1 | 3,578
Cataract 1 | 297
Cerebellar Ataxia 1 | 304
Cerebellar Dysmetria 1 | 56
Cerebral atrophy 1 | 178
Cervical vertebral abnormalities 1 | 6
Chorea 1 | 29
Choreatic disease 1 | 52
Claw hand 1 | 26
Cognitive delay 1 | 608
Congenital Bilateral Cataracts 1 | 50
Congenital Cataracts, Facial Dysmorphism, And Neuropathy 1 | 1
Congenital anomaly of face 1 | 56
Congenital cataract 1 | 50
Congenital clubfoot 1 | 109
Congenital pes cavus 1 | 88
Corneal diameter decreased 1 | 47
Decreased motor NCV 1 | 22
Decreased size of eyeball 1 | 97
Degenerative brain disorder 1 | 100
Dental abnormalities 1 | 60
Distal motor neuropathy 1 | 3
Distortion of face 1 | 46
Dull intelligence 1 | 645
Dysmorphic facies 1 | 46
Fetal Growth Retardation 1 | 189
Flexion contracture of proximal interphalangeal joint 1 | 75
Funny looking face 1 | 46
Genu recurvatum 1 | 12
Global developmental delay 1 | 608
Hyperplasia of malar bones 1 | 4
Hypoglycemia 1 | 152
Hypogonadism, Isolated Hypogonadotropic 1 | 71
Hypogonadotropic hypogonadism 1 | 89
Hypoplastic mandible condyle 1 | 275
Impaired cognition 1 | 96
Infant, Small for Gestational Age 1 | 176
Infantile onset 1 | 238
Intrauterine retardation 1 | 176
Kyphoscoliosis deformity of spine 1 | 60
Length dependent motor neuropathy 1 | 3
Lens Opacities 1 | 231
Long eyelashes 1 | 37
Low intelligence 1 | 645
Low serum estradiol levels 1 | 22
Mandibular hypoplasia 1 | 275
Mental Retardation 1 | 645
Mental and motor retardation 1 | 608
Mental deficiency 1 | 645
Mental impairment 1 | 95
Microcornea 1 | 47
Micrognathism 1 | 275
Microphthalmos 1 | 100
Mild Mental Retardation 1 | 70
Motor axonal neuropathy 1 | 3
Motor delay 1 | 147
Myoglobinuria 1 | 15
Neuropathy 1 | 261
No development of motor milestones 1 | 147
Nystagmus 1 | 317
Osteoporosis 1 | 363
Paresthesia 1 | 32
Peripheral axonal degeneration 1 | 4
Peripheral demyelination 1 | 16
Peripheral hypomyelination 1 | 7
Peripheral motor neuropathy 1 | 4
Polyneuropathy, Motor 1 | 4
Poor school performance 1 | 645
Primary hypogonadism 1 | 37
Prominent midface 1 | 4
Rhabdomyolysis, acute 1 | 2
Short stature 1 | 531
Strabismus 1 | 270
Supratentorial atrophy 1 | 94
Terminal tremor 1 | 20
Tooth Abnormalities 1 | 69
adult high grade glioma 1 | 3,801
aldosterone-producing adenoma 1 | 665
cystic fibrosis 1 | 1,696
facial deformity 1 | 46
glioblastoma 1 | 5,792
group 3 medulloblastoma 1 | 4,104
hereditary spastic paraplegia 1 | 318
invasive ductal carcinoma 1 | 2,951
lung cancer 1 | 4,740
non-small cell lung cancer 1 | 2,890
oligodendroglioma 1 | 2,850
psoriasis 1 | 6,694

Tissue

Blood and immune system 5 | 16,909
Cardiovascular System 5 | 15,192
Digestive Tract 5 | 17,369
Endocrine System 5 | 18,159
Female tissues 5 | 17,400
Liver and Pancreas 5 | 16,750
Male tissues 5 | 17,142
Nervous System 5 | 16,725
Respiratory system 5 | 16,393
Skin and soft tissues 5 | 17,230
Urinary Tract 5 | 16,678

Target Family

Enzyme 3 | 4,145
Non-IDG 2 | 12,091

GO Process

dephosphorylation of RNA polym... 5 | 5
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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