Development Level

Tbio 5 | 11,445
Tchem 1 | 1,598

IMPC Phenotype

abnormal tooth morphology 1 | 24
decreased red blood cell distr... 1 | 41
decreased spleen weight 1 | 10
embryonic lethality prior to t... 1 | 278
preweaning lethality, complete... 1 | 979

Disease

Carcinoma 5 | 11,493
ovarian cancer 5 | 8,520
Autosomal recessive predisposition 4 | 1,442
intraductal papillary-mucinous carcinoma (IPMC) 4 | 2,989
intraductal papillary-mucinous neoplasm (IPMN) 4 | 3,291
osteosarcoma 4 | 7,950
psoriasis 4 | 6,694
Cognitive delay 3 | 608
Epilepsy 3 | 792
Global developmental delay 3 | 608
Mental and motor retardation 3 | 608
Muscle hypotonia 3 | 571
Seizures 3 | 596
intraductal papillary-mucinous adenoma (IPMA) 3 | 2,955
tuberculosis 3 | 2,010
Acquired scoliosis 2 | 281
Arthrogryposis 2 | 54
Byzanthine arch palate 2 | 194
Congenital myasthenic syndrome 2 | 25
Curvature of spine 2 | 282
Dull intelligence 2 | 645
Exocrine pancreatic insufficiency 2 | 32
Highly variable severity 2 | 157
Hyperglycemia 2 | 137
Intellectual disability 2 | 1,016
Low intelligence 2 | 645
Mental Retardation 2 | 645
Mental deficiency 2 | 645
Mildly increased creatine kinase 2 | 20
Motor delay 2 | 147
Myasthenic Syndromes, Congenital 2 | 16
Myopathy 2 | 185
Neuropathy 2 | 261
No development of motor milestones 2 | 147
Obesity 2 | 678
Pancreatic steatorrhea 2 | 6
Poor school performance 2 | 645
Proximal muscle weakness 2 | 47
Proximal neurogenic muscle weakness 2 | 47
Small head 2 | 374
Steatorrhea 2 | 34
Variable expressivity 2 | 157
colon cancer 2 | 1,478
diabetes mellitus 2 | 1,728
group 3 medulloblastoma 2 | 4,104
invasive ductal carcinoma 2 | 2,951
lung cancer 2 | 4,740
lung carcinoma 2 | 2,843
pancreatic ductal adenocarcinoma liver metastasis 2 | 1,962
spina bifida 2 | 1,074
subependymal giant cell astrocytoma 2 | 2,287
Abnormality of metabolism/homeostasis 1 | 134
Adult onset 1 | 82
Angle class 2 malocclusion 1 | 57
Angle class 3 malocclusion 1 | 57
Autism Spectrum Disorders 1 | 75
Autistic behavior 1 | 20
Barrett's esophagus 1 | 182
Botulism 1 | 24
Brain cancer 1 | 30
Class III malocclusion 1 | 78
Coarse facial features 1 | 108
Colorectal Neoplasms 1 | 243
Congenital disorder of glycosylation 1 | 54
Dacryoadenitis 1 | 10
Deglutition Disorders 1 | 132
Distal amyotrophy 1 | 51
Exotropia 1 | 35
Fatty replacement of skeletal muscle 1 | 3
Foot dorsiflexor weakness 1 | 27
Foot-drop 1 | 27
Gait, Drop Foot 1 | 24
Generalized hirsutism 1 | 36
Hypertrophy of lower jaw 1 | 78
Hypoplasia of nipple 1 | 16
Increased size of mandible 1 | 78
Isoelectric focusing of serum transferrin consistent with CDG type I 1 | 10
Laryngeal tuberculosis 1 | 3
Limited shoulder movement 1 | 3
Low posterior hairline 1 | 52
Malocclusion 1 | 57
Mandibular hyperplasia 1 | 78
Microretrognathia 1 | 13
Muscle Cramp 1 | 55
Muscle atrophy, proximal 1 | 11
Myasthenias 1 | 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1 | 6
Ophthalmoparesis 1 | 11
Periorbital fullness 1 | 9
Respiratory insufficiency due to muscle weakness 1 | 37
Rimmed vacuoles on biopsy 1 | 15
Simple syndactyly of toes, first web space 1 | 23
Synophrys 1 | 40
Thickened facial skin with coarse facial features 1 | 108
Thin upper lip vermilion 1 | 67
Tracheitis 1 | 5
Variation in muscle fiber size 1 | 16
Weak cry 1 | 17
X-linked cerebral adrenoleukodystrophy 1 | 116
mandibular excess (physical finding) 1 | 78

Tissue

Blood and immune system 6 | 16,909
Cardiovascular System 6 | 15,192
Digestive Tract 6 | 17,369
Endocrine System 6 | 18,159
Female tissues 6 | 17,400
Liver and Pancreas 6 | 16,750
Male tissues 6 | 17,142
Nervous System 6 | 16,725
Respiratory system 6 | 16,393
Skin and soft tissues 6 | 17,230
Urinary Tract 6 | 16,678

Target Family

Enzyme 5 | 4,145
Transporter 1 | 473

GO Process

UDP-N-acetylglucosamine metabo... 6 | 6
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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