Development Level

Tbio 10 | 11,445
Tdark 3 | 6,588

IMPC Phenotype

preweaning lethality, incomple... 1 | 499

Disease

Carcinoma 10 | 11,493
osteosarcoma 9 | 7,950
psoriasis 7 | 6,694
ovarian cancer 6 | 8,520
Intellectual disability 5 | 1,016
ependymoma 5 | 4,679
lung cancer 5 | 4,740
adult high grade glioma 4 | 3,801
glioblastoma 4 | 5,792
group 4 medulloblastoma 4 | 1,855
Autosomal recessive predisposition 3 | 1,442
Cognitive delay 3 | 608
Dull intelligence 3 | 645
Epilepsy 3 | 792
Exostosis 3 | 15
Global developmental delay 3 | 608
Kidney cancer 3 | 2,613
Low intelligence 3 | 645
Mental Retardation 3 | 645
Mental and motor retardation 3 | 608
Mental deficiency 3 | 645
Muscle hypotonia 3 | 571
Poor school performance 3 | 645
Seizures 3 | 596
Short stature 3 | 531
atypical teratoid / rhabdoid tumor 3 | 5,112
gastric carcinoma 3 | 807
lung carcinoma 3 | 2,843
malignant mesothelioma 3 | 3,232
medulloblastoma, large-cell 3 | 6,241
Abnormality of the femur 2 | 6
Abnormality of the humerus 2 | 6
Abnormality of the metaphyses 2 | 48
Abnormality of the tibia 2 | 9
Acquired scoliosis 2 | 281
Anteverted nostril 2 | 191
Aseptic Necrosis of Bone 2 | 8
Aseptic necrosis 2 | 8
Bone infarction 2 | 8
Bone necrosis 2 | 9
Bone pain 2 | 42
Breast cancer 2 | 3,578
Cataract 2 | 297
Cervical myelopathy 2 | 6
Chondrosarcoma 2 | 21
Cleft Lip 2 | 141
Congenital disorder of glycosylation 2 | 54
Cranial nerve palsies 2 | 11
Curvature of spine 2 | 282
Dental abnormalities 2 | 60
Exostoses, Multiple Hereditary 2 | 3
Failure to gain weight 2 | 365
Hereditary multiple exostoses 2 | 3
Hip joint varus deformity - observation 2 | 24
Hypoplastic mandible condyle 2 | 275
Knee joint valgus deformity 2 | 56
Lens Opacities 2 | 231
Madelung Deformity 2 | 5
Madelung-like forearm deformities 2 | 2
Maffucci syndrome 2 | 6
Mandibular hypoplasia 2 | 275
Micrognathism 2 | 275
Micromelia 2 | 58
Motor delay 2 | 147
Multiple congenital exostosis 2 | 2
Multiple myeloma 2 | 1,332
Muscle Weakness 2 | 170
Myopathy 2 | 185
No development of motor milestones 2 | 147
Nystagmus 2 | 317
Ollier disease 2 | 18
Pediatric failure to thrive 2 | 365
Pelvic exostoses 2 | 3
Peripheral nerve compression 2 | 2
Protuberances at ends of long bones 2 | 2
Proximal muscle weakness 2 | 47
Proximal neurogenic muscle weakness 2 | 47
Radial bowing 2 | 13
Rib exostoses 2 | 2
Scapular exostoses 2 | 2
Short metacarpal 2 | 43
Short ulnae 2 | 24
Small head 2 | 374
Strabismus 2 | 270
Tooth Abnormalities 2 | 69
ULNAR HYPOPLASIA 2 | 24
intraductal papillary-mucinous adenoma (IPMA) 2 | 2,955
intraductal papillary-mucinous carcinoma (IPMC) 2 | 2,989
invasive ductal carcinoma 2 | 2,951
non primary Sjogren syndrome sicca 2 | 891
tuberculosis 2 | 2,010
Convex nasal bridge 1 | 57
Duodenal ulcer 1 | 20
Gonorrhea 1 | 13
Human immunodeficiency virus infectious disease 1 | 138
Juvenile astrocytoma 1 | 3
Macular degeneration 1 | 65
Periodontal disease 1 | 40
Prominent nasal bridge 1 | 57
Trichomoniasis 1 | 10

Tissue

Endocrine System 12 | 18,159
Male tissues 12 | 17,142
Blood and immune system 11 | 16,909
Digestive Tract 11 | 17,369
Female tissues 11 | 17,400
Liver and Pancreas 11 | 16,750
Nervous System 11 | 16,725
Skin and soft tissues 11 | 17,230
Cardiovascular System 10 | 15,192
Respiratory system 10 | 16,393
Urinary Tract 10 | 16,678

Target Family

Enzyme 12 | 4,145
Non-IDG 1 | 12,091

GO Function

transferase activity, transfer... 13 | 13
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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