Development Level

Tbio 22 | 11,445
Tdark 5 | 6,588

IMPC Phenotype

preweaning lethality, complete... 6 | 979
embryonic lethality prior to o... 3 | 239
embryonic lethality prior to t... 3 | 278
abnormal embryo size 1 | 220
abnormal hair growth 1 | 10
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
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 13 | 8,520
Carcinoma 11 | 11,493
osteosarcoma 11 | 7,950
lung cancer 10 | 4,740
psoriasis 7 | 6,694
medulloblastoma, large-cell 6 | 6,241
Kidney cancer 5 | 2,613
Multiple myeloma 5 | 1,332
group 3 medulloblastoma 5 | 4,104
Autosomal recessive predisposition 4 | 1,442
Cognitive delay 4 | 608
Global developmental delay 4 | 608
Hereditary spherocytosis type 5 4 | 12
Mental and motor retardation 4 | 608
Treacher Collins syndrome 4 | 27
Atrophy of cerebellum 3 | 103
Breast cancer 3 | 3,578
CNS hypomyelination 3 | 17
Cerebellar Ataxia 3 | 304
Cerebellar Dysmetria 3 | 56
Cerebellar degeneration 3 | 103
Deglutition Disorders 3 | 132
Dysarthria 3 | 192
Dystonia 3 | 164
Dystonic disease 3 | 106
Hypodontia 3 | 81
Hypomyelination 3 | 17
Hypomyelination-hypogonadotropic-hypogonadism-hypodontia syndrome 3 | 3
Hypoplasia of corpus callosum 3 | 90
Infratentorial atrophy 3 | 103
Intellectual disability 3 | 1,016
Leukodystrophy 3 | 55
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 3 | 3
Primary hypogonadism 3 | 37
Progressive disorder 3 | 142
Short stature 3 | 531
Tooth agenesis 3 | 44
Treacher Collins syndrome 1 3 | 4
astrocytoma 3 | 1,146
atypical teratoid / rhabdoid tumor 3 | 5,112
breast carcinoma 3 | 1,638
ependymoma 3 | 4,679
glioblastoma 3 | 5,792
group 4 medulloblastoma 3 | 1,855
malignant mesothelioma 3 | 3,232
non primary Sjogren syndrome sicca 3 | 891
Abnormal skeletal development 2 | 60
Abnormal upper motor neuron morphology 2 | 11
Babinski Reflex 2 | 100
Brain disease 2 | 96
Broad flat nasal bridge 2 | 236
Cerebral atrophy 2 | 178
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
Delayed Puberty 2 | 97
Downward slant of palpebral fissure 2 | 158
Drooling 2 | 27
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
Klippel-Feil syndrome 2 | 15
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
Retrognathia 2 | 54
Retrusion of upper jaw bones 2 | 66
Sialorrhea 2 | 28
Small cheekbone 2 | 22
Small midface 2 | 105
Strabismus 2 | 270
Visual Impairment 2 | 174
dermatomyositis 2 | 966
lung adenocarcinoma 2 | 2,716
non-Hodgkin lymphoma 2 | 6
spina bifida 2 | 1,074
subependymal giant cell astrocytoma 2 | 2,287
tuberculosis 2 | 2,010

Tissue

Blood and immune system 26 | 16,909
Cardiovascular System 26 | 15,192
Digestive Tract 26 | 17,369
Endocrine System 26 | 18,159
Female tissues 26 | 17,400
Liver and Pancreas 26 | 16,750
Male tissues 26 | 17,142
Nervous System 26 | 16,725
Respiratory system 26 | 16,393
Skin and soft tissues 26 | 17,230
Urinary Tract 26 | 16,678

Target Family

Enzyme 18 | 4,145
Non-IDG 8 | 12,091
Epigenetic 1 | 242

Reactome Pathway

RNA Polymerase III Transcripti... 27 | 27
Signal Transduction 2,657 | 2,657
Immune System 2,101 | 2,101
Metabolism of proteins 2,091 | 2,091
Metabolism 2,081 | 2,081
Post-translational protein mod... 1,398 | 1,398
Gene expression (Transcription... 1,369 | 1,369
RNA Polymerase II Transcriptio... 1,228 | 1,228
Signaling by GPCR 1,217 | 1,217
Innate Immune System 1,176 | 1,176
GPCR downstream signalling 1,157 | 1,157
Generic Transcription Pathway 1,108 | 1,108
Developmental Biology 1,026 | 1,026
Adaptive Immune System 892 | 892
Disease 879 | 879
Cytokine Signaling in Immune s... 752 | 752
Metabolism of lipids 739 | 739
Vesicle-mediated transport 720 | 720
Transport of small molecules 717 | 717
Metabolism of RNA 682 | 682
Hemostasis 666 | 666
Membrane Trafficking 608 | 608
Cell Cycle 590 | 590
G alpha (s) signalling events 574 | 574
Neutrophil degranulation 539 | 539
Axon guidance 533 | 533
Cell Cycle, Mitotic 488 | 488
Cellular responses to external... 463 | 463
GPCR ligand binding 459 | 459
Signaling by Interleukins 448 | 448
Class I MHC mediated antigen p... 435 | 435
Signaling by Receptor Tyrosine... 430 | 430
Olfactory Signaling Pathway 428 | 428
Infectious disease 404 | 404
G alpha (i) signalling events 394 | 394
Cellular responses to stress 386 | 386
Signaling by Rho GTPases 386 | 386
Metabolism of amino acids and ... 370 | 370
Diseases of signal transductio... 367 | 367
Neuronal System 367 | 367
Transcriptional Regulation by ... 365 | 365
M Phase 344 | 344
Class A/1 (Rhodopsin-like rece... 322 | 322
Antigen processing: Ubiquitina... 306 | 306
Extracellular matrix organizat... 297 | 297
Translation 297 | 297
Signaling by WNT 293 | 293
Intracellular signaling by sec... 289 | 289
DNA Repair 288 | 288
Asparagine N-linked glycosylat... 287 | 287
MAPK family signaling cascades 285 | 285
Deubiquitination 276 | 276
Interferon Signaling 275 | 275
Immunoregulatory interactions ... 272 | 272
Metabolism of carbohydrates 271 | 271
Cell Cycle Checkpoints 270 | 270
Organelle biogenesis and maint... 261 | 261
PIP3 activates AKT signaling 259 | 259
RHO GTPase Effectors 257 | 257
Platelet activation, signaling... 256 | 256
HIV Infection 254 | 254
MAPK1/MAPK3 signaling 244 | 244
SLC-mediated transmembrane tra... 243 | 243
Processing of Capped Intron-Co... 238 | 238
RAF/MAP kinase cascade 238 | 238
Chromatin modifying enzymes 236 | 236
Chromatin organization 236 | 236
Neddylation 234 | 234
Transmission across Chemical S... 221 | 221
Biological oxidations 220 | 220
Signaling by ROBO receptors 219 | 219
Keratinization 216 | 216
rRNA processing 216 | 216
G alpha (q) signalling events 211 | 211
Cell surface interactions at t... 210 | 210
Phospholipid metabolism 209 | 209
Fc epsilon receptor (FCERI) si... 204 | 204
Transcriptional regulation by ... 203 | 203
Ub-specific processing proteas... 203 | 203
TCF dependent signaling in res... 199 | 199
Muscle contraction 198 | 198
rRNA processing in the nucleus... 192 | 192
Metabolism of vitamins and cof... 188 | 188
Peptide ligand-binding recepto... 188 | 188
mRNA Splicing 187 | 187
Cilium Assembly 186 | 186
Intra-Golgi and retrograde Gol... 186 | 186
Mitotic G2-G2/M phases 184 | 184
Mitotic Metaphase and Anaphase 183 | 183
G2/M Transition 182 | 182
Major pathway of rRNA processi... 182 | 182
Mitotic Anaphase 182 | 182
Mitotic Prometaphase 181 | 181
Fatty acid metabolism 180 | 180
mRNA Splicing - Major Pathway 179 | 179
Ion channel transport 177 | 177
Signaling by the B Cell Recept... 176 | 176
Regulation of expression of SL... 173 | 173
Programmed Cell Death 172 | 172
Interferon gamma signaling 171 | 171
Separation of Sister Chromatid... 170 | 170

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