Development Level

Tbio 3 | 11,445
Tchem 1 | 1,598
Tdark 1 | 6,588

Disease

Carcinoma 4 | 11,493
Endometriosis 4 | 540
ovarian cancer 4 | 8,520
Atopic dermatitis 3 | 952
Breast cancer 3 | 3,578
Cancer 3 | 2,499
Cognitive delay 3 | 608
Dull intelligence 3 | 645
Global developmental delay 3 | 608
Intellectual disability 3 | 1,016
Kidney cancer 3 | 2,613
Low intelligence 3 | 645
Mental Retardation 3 | 645
Mental and motor retardation 3 | 608
Mental deficiency 3 | 645
Poor school performance 3 | 645
adrenocortical carcinoma 3 | 1,428
adult high grade glioma 3 | 3,801
atypical teratoid / rhabdoid tumor 3 | 5,112
ductal carcinoma in situ 3 | 1,745
ependymoma 3 | 4,679
glioblastoma 3 | 5,792
group 3 medulloblastoma 3 | 4,104
intraductal papillary-mucinous carcinoma (IPMC) 3 | 2,989
intraductal papillary-mucinous neoplasm (IPMN) 3 | 3,291
invasive ductal carcinoma 3 | 2,951
medulloblastoma, large-cell 3 | 6,241
non-small cell lung cancer 3 | 2,890
pancreatic cancer 3 | 2,398
primitive neuroectodermal tumor 3 | 3,035
psoriasis 3 | 6,694
Abnormality of vision 2 | 40
Abnormally small eyeball 2 | 97
Anteverted nostril 2 | 191
Ascites 2 | 22
Carcinoma of colon 2 | 32
Cataract 2 | 297
Clouding of corneal stroma 2 | 50
Congenital Epicanthus 2 | 177
Corneal Opacity 2 | 53
Dandy-Walker Syndrome 2 | 39
Decreased size of eyeball 2 | 97
Dilated ventricles (finding) 2 | 121
Glaucoma 2 | 239
Hydrocephalus 2 | 152
Hypoplastic mandible condyle 2 | 275
Increased nuchal translucency 2 | 6
Lens Opacities 2 | 231
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 | 5
Mandibular hypoplasia 2 | 275
Micrognathism 2 | 275
Microphthalmos 2 | 100
Muscle biopsy shows dystrophic changes 2 | 39
Muscular dystrophy 2 | 75
Orbital separation excessive 2 | 244
Polyhydramnios 2 | 108
Rheumatoid arthritis 2 | 1,191
Short stature 2 | 531
Small head 2 | 374
Stomach Neoplasms 2 | 300
Triangular face 2 | 58
active Crohn's disease 2 | 922
breast carcinoma 2 | 1,638
lung adenocarcinoma 2 | 2,716
lung cancer 2 | 4,740
malignant mesothelioma 2 | 3,232
mosaic variegated aneuploidy syndrome 1 2 | 4
nasopharyngeal carcinoma 2 | 1,058
ulcerative colitis 2 | 1,819
Brachycephaly 1 | 88
Broad cranium shape 1 | 88
Colorectal Neoplasms 1 | 243
Degenerative polyarthritis 1 | 115
Downward slant of palpebral fissure 1 | 158
Epilepsies, Myoclonic 1 | 32
Esophageal Squamous Cell Carcinoma 1 | 77
Global developmental delay, severe 1 | 47
High forehead 1 | 102
Highly variable clinical phenotype 1 | 150
Highly variable phenotype and severity 1 | 150
Highly variable phenotype, even within families 1 | 150
Hypoplasia of corpus callosum 1 | 90
Infertility 1 | 188
Liver cancer 1 | 604
Low Birth Weights 1 | 69
Microcephaly 1 | 166
Myoclonic Epilepsies, Progressive 1 | 44
Osteoarthritis 1 | 184
Penile hypospadias 1 | 106
Phenotypic variability 1 | 150
Profound Mental Retardation 1 | 31
Profound intellectual disabilities 1 | 31
Range of joint movement increased 1 | 32
Severe psychomotor retardation 1 | 47
Small for gestational age (disorder) 1 | 69
Squamous cell carcinoma of esophagus 1 | 77
Tall forehead 1 | 102
Wide nose 1 | 35
Wide skull shape 1 | 88
cystic fibrosis and chronic rhinosinusitis 1 | 214

Tissue

Blood and immune system 5 | 16,909
Digestive Tract 5 | 17,369
Endocrine System 5 | 18,159
Female tissues 5 | 17,400
Male tissues 5 | 17,142
Nervous System 5 | 16,725
Skin and soft tissues 5 | 17,230
Cardiovascular System 4 | 15,192
Liver and Pancreas 4 | 16,750
Respiratory system 4 | 16,393
Urinary Tract 4 | 16,678

Target Family

Kinase 2 | 634
Non-IDG 2 | 12,091
Enzyme 1 | 4,145

GO Process

meiotic sister chromatid cohes... 5 | 5
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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