Development Level

Tbio 26 | 11,445
Tchem 2 | 1,598
Tclin 1 | 613
Tdark 1 | 6,588

IMPC Phenotype

preweaning lethality, complete... 7 | 979
embryonic lethality prior to o... 2 | 239
abnormal behavior 1 | 298
abnormal digit morphology 1 | 10
abnormal kidney morphology 1 | 65
decreased IgM level 1 | 1
decreased body weight 1 | 161
decreased bone mineral content 1 | 151
decreased circulating choleste... 1 | 93
decreased lean body mass 1 | 135
decreased total body fat amoun... 1 | 207
embryonic lethality prior to t... 1 | 278
increased bone mineral content 1 | 108
increased circulating alkaline... 1 | 122
increased circulating amylase ... 1 | 25
increased circulating choleste... 1 | 66
increased circulating sodium l... 1 | 71
increased lean body mass 1 | 172
long tibia 1 | 25

Disease

Carcinoma 25 | 11,493
ovarian cancer 22 | 8,520
pancreatic ductal adenocarcinoma liver metastasis 15 | 1,962
Autosomal recessive predisposition 13 | 1,442
Cognitive delay 13 | 608
Global developmental delay 13 | 608
Mental and motor retardation 13 | 608
psoriasis 13 | 6,694
Multiple myeloma 11 | 1,332
glioblastoma 11 | 5,792
Cerebellar Ataxia 10 | 304
Muscle hypotonia 10 | 571
medulloblastoma, large-cell 10 | 6,241
osteosarcoma 10 | 7,950
Epilepsy 9 | 792
astrocytic glioma 9 | 2,597
atypical teratoid / rhabdoid tumor 9 | 5,112
Acidosis, Lactic 8 | 97
Breast cancer 8 | 3,578
Pick disease 8 | 1,894
Seizures 8 | 596
group 3 medulloblastoma 8 | 4,104
lung cancer 8 | 4,740
Infantile onset 7 | 238
Lactic acidemia 7 | 95
Leigh disease 7 | 100
ependymoma 7 | 4,679
intraductal papillary-mucinous neoplasm (IPMN) 7 | 3,291
lung adenocarcinoma 7 | 2,716
malignant mesothelioma 7 | 3,232
Astrocytoma, Pilocytic 6 | 3,081
Chondroma 6 | 15
Dull intelligence 6 | 645
Failure to gain weight 6 | 365
Intellectual disability 6 | 1,016
Kidney cancer 6 | 2,613
Low Vision 6 | 174
Low intelligence 6 | 645
Mental Retardation 6 | 645
Mental deficiency 6 | 645
Paraganglioma 6 | 15
Pediatric failure to thrive 6 | 365
Persistent generalized lymphadenopathy 6 | 15
Poor school performance 6 | 645
Short stature 6 | 531
Small head 6 | 374
Stomach Neoplasms 6 | 300
Visual Impairment 6 | 174
Von Hippel-Lindau disease 6 | 19
adult high grade glioma 6 | 3,801
breast carcinoma 6 | 1,638
invasive ductal carcinoma 6 | 2,951
oligodendroglioma 6 | 2,850
Blepharoptosis 5 | 231
Cerebral atrophy 5 | 178
Degenerative polyarthritis 5 | 115
Dystonia 5 | 164
Dystonic disease 5 | 106
Highly variable clinical phenotype 5 | 150
Highly variable phenotype and severity 5 | 150
Highly variable phenotype, even within families 5 | 150
Lactic acidosis 5 | 51
Multiple, subcutaneous nodules 5 | 53
Nystagmus 5 | 317
Optic Atrophy 5 | 242
Osteoarthritis 5 | 184
Papilloma 5 | 44
Phaeochromocytoma 5 | 20
Phenotypic variability 5 | 150
Subcutaneous nodule 5 | 53
intraductal papillary-mucinous adenoma (IPMA) 5 | 2,955
primitive neuroectodermal tumor 5 | 3,035
Adult onset 4 | 82
Cancer 4 | 2,499
Degenerative brain disorder 4 | 100
Deglutition Disorders 4 | 132
Gastrointestinal Stromal Tumors 4 | 48
Gastrointestinal stromal tumor 4 | 62
Hemangioma 4 | 69
Hyperhidrosis disorder 4 | 81
Impaired cognition 4 | 96
Increased serum lactate 4 | 60
Increased sweating 4 | 81
Intestinal Obstruction 4 | 31
Mental impairment 4 | 95
Mitochondrial complex II deficiency 4 | 5
Neurofibromatosis 4 | 40
Neurogenic Muscular Atrophy 4 | 139
Neurogenic muscle atrophy, especially in the lower limbs 4 | 139
Obesity 4 | 678
Ophthalmoplegia 4 | 106
Skeletal muscle atrophy 4 | 139
Supratentorial atrophy 4 | 94
Sweating 4 | 81
Waldenstrons macroglobulinemia 4 | 765
extra-adrenal pheochromocytoma 4 | 7
hereditary spastic paraplegia 4 | 318
muscle degeneration 4 | 139
non-small cell lung cancer 4 | 2,890
ulcerative colitis 4 | 1,819

Tissue

Endocrine System 30 | 18,159
Blood and immune system 29 | 16,909
Cardiovascular System 29 | 15,192
Digestive Tract 29 | 17,369
Female tissues 29 | 17,400
Liver and Pancreas 29 | 16,750
Male tissues 29 | 17,142
Nervous System 29 | 16,725
Respiratory system 29 | 16,393
Skin and soft tissues 29 | 17,230
Urinary Tract 29 | 16,678

Target Family

Enzyme 30 | 4,145

GO Process

tricarboxylic acid cycle 30 | 30
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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