Development Level

Tbio 4 | 11,445

IMPC Phenotype

preweaning lethality, complete... 2 | 979
abnormal behavior 1 | 298
abnormal spleen morphology 1 | 55
decreased bone mineral content 1 | 151
decreased circulating iron lev... 1 | 32
decreased fasted circulating g... 1 | 65
decreased respiratory quotient 1 | 16
decreased startle reflex 1 | 75
hyperactivity 1 | 148
impaired righting response 1 | 26
increased circulating creatini... 1 | 38
increased circulating triglyce... 1 | 42

Disease

Carcinoma 4 | 11,493
atypical teratoid / rhabdoid tumor 4 | 5,112
glioblastoma 4 | 5,792
medulloblastoma, large-cell 4 | 6,241
Astrocytoma, Pilocytic 3 | 3,081
adult high grade glioma 3 | 3,801
colon cancer 3 | 1,478
group 3 medulloblastoma 3 | 4,104
oligodendroglioma 3 | 2,850
osteosarcoma 3 | 7,950
ovarian cancer 3 | 8,520
psoriasis 3 | 6,694
subependymal giant cell astrocytoma 3 | 2,287
Amnesia 2 | 17
Breast cancer 2 | 3,578
Substance Withdrawal Syndrome 2 | 55
astrocytic glioma 2 | 2,597
astrocytoma 2 | 1,146
breast carcinoma 2 | 1,638
ependymoma 2 | 4,679
lung carcinoma 2 | 2,843
primitive neuroectodermal tumor 2 | 3,035
Absent speech 1 | 43
Agenesis of condylar neck of mandible 1 | 2
Angle class 2 malocclusion 1 | 57
Angle class 3 malocclusion 1 | 57
Anterior open-bite malocclusion 1 | 4
Auriculo-condylar syndrome 1 | 3
Autosomal recessive nonsyndromic deafness 12 1 | 7
Big calvaria 1 | 147
Brain disease 1 | 96
Capuchin ears 1 | 17
Cerebral atrophy 1 | 178
Cholera 1 | 34
Cleft at the superior portion of the pinna 1 | 2
Cupped ears (finding) 1 | 17
Degenerative brain disorder 1 | 100
Delayed myelination 1 | 22
Difficulty chewing 1 | 3
Duchenne muscular dystrophy 1 | 601
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 1 | 1
Early infantile epileptic encephalopathy with suppression bursts 1 | 10
Epilepsy 1 | 792
Epileptic encephalopathy 1 | 26
Failure of development of condylar head of mandible 1 | 2
Failure of development of condylar neck of mandible 1 | 2
Failure of development of the condylar process of mandible 1 | 2
Hypertonic seizures 1 | 8
Hypoplasia of condylar head of mandible 1 | 2
Hypoplasia of condylar neck of mandible 1 | 2
Hypoplasia of corpus callosum 1 | 90
Hypoplasia of mandibular condyle 1 | 2
Hypoplastic superior helix 1 | 4
Hypotrophic condylar process of mandible 1 | 2
Hypotrophic mandibular condyle 1 | 2
Hypsarrhythmia 1 | 25
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
Malocclusion 1 | 57
Mandibular condyle aplasia 1 | 2
Mental Depression 1 | 333
Multiple myeloma 1 | 1,332
Overfolding of the superior helices 1 | 4
Pick disease 1 | 1,894
Postauricular skin tag 1 | 1
Posteriorly rotated ear 1 | 61
Preauricular skin tag 1 | 19
Pseudosarcomatous fibromatosis 1 | 8
Round face 1 | 45
Round, full face 1 | 45
Schizophrenia 1 | 1,160
Skin tag on the posterior cheek 1 | 19
Small condylar head of mandible 1 | 2
Small condylar neck of mandible 1 | 2
Speech articulation difficulties 1 | 3
Supratentorial atrophy 1 | 94
Tooth Crowding 1 | 45
Tooth mass arch size discrepancy 1 | 45
Tooth size discrepancy 1 | 45
Underdevelopment of condylar neck of mandible 1 | 2
Waldenstrons macroglobulinemia 1 | 765
acute myeloid leukemia 1 | 783
acute quadriplegic myopathy 1 | 1,158
cutaneous lupus erythematosus 1 | 1,057
dermatomyositis 1 | 966
diabetes mellitus 1 | 1,728
ductal carcinoma in situ 1 | 1,745
facioscapulohumeral dystrophy 1 | 288
fibroadenoma 1 | 559
interstitial cystitis 1 | 2,312
invasive ductal carcinoma 1 | 2,951
juvenile dermatomyositis 1 | 1,187
lung adenocarcinoma 1 | 2,716
lung cancer 1 | 4,740
nonverbal 1 | 43
pancreatic cancer 1 | 2,398
pediatric high grade glioma 1 | 1,064
primary pancreatic ductal adenocarcinoma 1 | 1,109

Tissue

Blood and immune system 4 | 16,909
Cardiovascular System 4 | 15,192
Digestive Tract 4 | 17,369
Endocrine System 4 | 18,159
Female tissues 4 | 17,400
Liver and Pancreas 4 | 16,750
Male tissues 4 | 17,142
Nervous System 4 | 16,725
Respiratory system 4 | 16,393
Skin and soft tissues 4 | 17,230
Urinary Tract 4 | 16,678

Target Family

Non-IDG 4 | 12,091

GO Function

G-protein coupled serotonin re... 4 | 4
metal ion binding 2,256 | 2,256
DNA binding 1,481 | 1,481
ATP binding 1,477 | 1,477
RNA binding 1,383 | 1,383
identical protein binding 1,084 | 1,084
zinc ion binding 828 | 828
transcription factor activity,... 816 | 816
protein homodimerization activ... 801 | 801
calcium ion binding 690 | 690
G-protein coupled receptor act... 658 | 658
protein heterodimerization act... 473 | 473
olfactory receptor activity 425 | 425
protein kinase binding 410 | 410
chromatin binding 378 | 378
receptor binding 374 | 374
sequence-specific DNA binding 374 | 374
GTP binding 372 | 372
protein serine-threonine kinas... 360 | 360
RNA polymerase II core promote... 346 | 346
enzyme binding 340 | 340
ubiquitin protein ligase bindi... 301 | 301
transcription factor binding 297 | 297
GTPase activity 286 | 286
GTPase activator activity 281 | 281
cadherin binding 277 | 277
transcriptional activator acti... 274 | 274
actin binding 272 | 272
ubiquitin-protein transferase ... 260 | 260
transcription coactivator acti... 249 | 249
serine-type endopeptidase acti... 246 | 246
protein domain specific bindin... 241 | 241
protein complex binding 231 | 231
structural molecule activity 229 | 229
microtubule binding 212 | 212
nucleic acid binding 210 | 210
signal transducer activity 208 | 208
transcription regulatory regio... 205 | 205
RNA polymerase II regulatory r... 204 | 204
receptor activity 202 | 202
transmembrane signaling recept... 202 | 202
ubiquitin protein ligase activ... 202 | 202
transcription corepressor acti... 200 | 200
magnesium ion binding 197 | 197
calmodulin binding 194 | 194
protein C-terminus binding 191 | 191
protein kinase activity 182 | 182
carbohydrate binding 178 | 178
RNA polymerase II transcriptio... 174 | 174
cytokine activity 171 | 171
antigen binding 169 | 169
growth factor activity 162 | 162
heparin binding 161 | 161
protein dimerization activity 161 | 161
structural constituent of ribo... 161 | 161
actin filament binding 151 | 151
iron ion binding 139 | 139
transcriptional activator acti... 139 | 139
Rab GTPase binding 138 | 138
transcriptional repressor acti... 135 | 135
transporter activity 134 | 134
heme binding 129 | 129
ATPase activity 128 | 128
lipid binding 127 | 127
SH3 domain binding 125 | 125
protein tyrosine kinase activi... 122 | 122
ion channel binding 118 | 118
mRNA binding 118 | 118
Ras guanyl-nucleotide exchange... 116 | 116
metalloendopeptidase activity 115 | 115
unfolded protein binding 113 | 113
integrin binding 112 | 112
histone binding 111 | 111
protease binding 108 | 108
histone deacetylase binding 107 | 107
structural constituent of cyto... 107 | 107
guanyl-nucleotide exchange fac... 106 | 106
protein N-terminus binding 106 | 106
peptide antigen binding 103 | 103
hormone activity 96 | 96
serine-type endopeptidase inhi... 96 | 96
odorant binding 94 | 94
kinase binding 92 | 92
single-stranded DNA binding 92 | 92
chaperone binding 91 | 91
oxidoreductase activity 91 | 91
protein tyrosine phosphatase a... 91 | 91
PDZ domain binding 87 | 87
thiol-dependent ubiquitinyl hy... 86 | 86
kinase activity 84 | 84
transcriptional repressor acti... 84 | 84
beta-catenin binding 83 | 83
hydrolase activity 80 | 80
peptidase activity 80 | 80
protein binding, bridging 80 | 80
ATPase binding 79 | 79
double-stranded DNA binding 79 | 79
phospholipid binding 78 | 78
phosphatidylinositol binding 77 | 77
thiol-dependent ubiquitin-spec... 76 | 76
drug binding 75 | 75

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