Development Level

Tbio 33 | 11,651
Tdark 4 | 6,593

IMPC Phenotype

preweaning lethality, complete... 8 | 979
embryonic lethality prior to o... 4 | 239
embryonic lethality prior to t... 3 | 278
abnormal behavior 1 | 298
abnormal embryo size 1 | 220
abnormal hair growth 1 | 10
abnormal posture 1 | 2
decreased anxiety-related resp... 1 | 12
decreased bone mineral content 1 | 151
decreased circulating HDL chol... 1 | 68
decreased circulating choleste... 1 | 93
decreased circulating iron lev... 1 | 32
decreased circulating sodium l... 1 | 22
decreased leukocyte cell numbe... 1 | 73
embryonic growth retardation 1 | 106
enlarged lymph nodes 1 | 37
enlarged urinary bladder 1 | 8
increased bone mineral content 1 | 108
increased circulating free fat... 1 | 20
increased circulating iron lev... 1 | 30

Disease

ovarian cancer 18 | 8,520
osteosarcoma 14 | 7,950
lung cancer 13 | 4,740
Carcinoma 12 | 11,493
Multiple myeloma 7 | 1,332
Kidney cancer 6 | 2,613
medulloblastoma, large-cell 6 | 6,241
Hereditary spherocytosis type 5 5 | 12
group 3 medulloblastoma 5 | 4,104
non primary Sjogren syndrome sicca 5 | 891
psoriasis 5 | 6,694
diabetes mellitus 4 | 1,728
ependymoma 4 | 4,679
glioblastoma 4 | 5,792
Autosomal recessive predisposition 3 | 1,442
Breast cancer 3 | 3,578
CNS hypomyelination 3 | 17
Cerebellar Ataxia 3 | 304
Cognitive delay 3 | 608
Global developmental delay 3 | 608
Hypodontia 3 | 81
Hypomyelination 3 | 17
Hypomyelination-hypogonadotropic-hypogonadism-hypodontia syndrome 3 | 3
Hypoplasia of corpus callosum 3 | 90
Leukodystrophy 3 | 55
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 3 | 3
Mental and motor retardation 3 | 608
Primary hypogonadism 3 | 37
Treacher Collins syndrome 3 | 27
astrocytic glioma 3 | 2,597
astrocytoma 3 | 1,146
atypical teratoid / rhabdoid tumor 3 | 5,112
breast carcinoma 3 | 1,638
group 4 medulloblastoma 3 | 1,855
hepatocellular carcinoma 3 | 547
lung adenocarcinoma 3 | 2,716
primitive neuroectodermal tumor 3 | 3,035
Abnormal skeletal development 2 | 60
Abnormal upper motor neuron morphology 2 | 11
Atrophy of cerebellum 2 | 103
Babinski Reflex 2 | 100
Broad flat nasal bridge 2 | 236
Cerebellar Dysmetria 2 | 56
Cerebellar degeneration 2 | 103
Cerebral atrophy 2 | 178
Cockayne syndrome 2 | 60
Conductive hearing loss 2 | 123
Congenital small ears 2 | 48
Decreased projection of maxilla 2 | 66
Decreased projection of midface 2 | 105
Deficiency of upper jaw bones 2 | 66
Deglutition Disorders 2 | 132
Delayed Puberty 2 | 97
Downward slant of palpebral fissure 2 | 158
Drooling 2 | 27
Dysarthria 2 | 192
Dystonia 2 | 164
Dystonic disease 2 | 106
Frontal bossing 2 | 157
Herpes zoster 2 | 68
Highly variable clinical phenotype 2 | 150
Highly variable phenotype and severity 2 | 150
Highly variable phenotype, even within families 2 | 150
Hyperreflexia 2 | 209
Hypogonadism, Isolated Hypogonadotropic 2 | 71
Hypogonadotropic hypogonadism 2 | 89
Hypoplasia of the maxilla 2 | 66
Hypoplasia of the zygomatic bone 2 | 22
Hypotrophic malar bone 2 | 129
Hypotrophic maxilla 2 | 66
Hypotrophic midface 2 | 105
Infratentorial atrophy 2 | 103
Low Vision 2 | 174
Malar flattening 2 | 129
Maxillary retrognathia 2 | 66
Midface retrusion 2 | 105
Muscle Spasticity 2 | 195
Myopia 2 | 176
Narrow internal auditory canal 2 | 8
Nasal bridge wide 2 | 236
Oligodontia 2 | 24
Open Bite 2 | 21
Osteochondrodysplasias 2 | 72
Phenotypic variability 2 | 150
Pick disease 2 | 1,894
Progressive disorder 2 | 142
Retrognathia 2 | 54
Retrusion of upper jaw bones 2 | 66
Sialorrhea 2 | 28
Small midface 2 | 105
Stomach Neoplasms 2 | 300
Strabismus 2 | 270
Tooth agenesis 2 | 44
Visual Impairment 2 | 174
dermatomyositis 2 | 966
pancreatic cancer 2 | 2,398
pancreatic carcinoma 2 | 562
pediatric high grade glioma 2 | 1,064
sonic hedgehog group medulloblastoma 2 | 467
spina bifida 2 | 1,074

Tissue

Blood and immune system 36 | 16,909
Cardiovascular System 36 | 15,192
Digestive Tract 36 | 17,369
Endocrine System 36 | 18,159
Female tissues 36 | 17,400
Liver and Pancreas 36 | 16,750
Male tissues 36 | 17,142
Nervous System 36 | 16,725
Respiratory system 36 | 16,393
Skin and soft tissues 36 | 17,230
Urinary Tract 36 | 16,678

Target Family

Enzyme 37 | 4,145

GO Function

DNA-directed 5'-3' RNA polymer... 37 | 37
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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