Development Level

Tbio 3 | 11,445

IMPC Phenotype

preweaning lethality, complete... 2 | 979

Disease

osteosarcoma 3 | 7,950
Blepharoptosis 2 | 231
lung adenocarcinoma 2 | 2,716
malignant mesothelioma 2 | 3,232
medulloblastoma, large-cell 2 | 6,241
non-small cell lung cancer 2 | 2,890
ovarian cancer 2 | 8,520
Aarskog syndrome 1 | 12
Acidosis, Lactic 1 | 97
Acquired scoliosis 1 | 281
Anteverted nostril 1 | 191
Attention Deficit Disorder with Hyperactivity 1 | 21
Bilateral fifth finger clinodactyly 1 | 110
Brachydactyly 1 | 156
Broad feet 1 | 19
Broad flat nasal bridge 1 | 236
Broad forehead 1 | 59
Broad philtrum 1 | 4
Chancroid 1 | 8
Cholangitis 1 | 32
Choreoathetoid movements 1 | 32
Choreoathetosis 1 | 32
Congenital Foot Deformity 1 | 4
Congenital neurologic anomalies 1 | 20
Craniofacial Abnormalities 1 | 151
Curvature of little finger 1 | 110
Curvature of spine 1 | 282
Decreased projection of maxilla 1 | 66
Deficiency of upper jaw bones 1 | 66
Delayed Puberty 1 | 97
Downward slant of palpebral fissure 1 | 158
Drooling 1 | 27
Essential Hypertension 1 | 94
Everted lower lip vermilion 1 | 54
Failure to gain weight 1 | 365
Fleshy earlobes 1 | 8
Flexion contracture of proximal interphalangeal joint 1 | 75
Foot Deformities, Congenital 1 | 4
Globe disease 1 | 67
Gross motor development delay 1 | 21
Growth Disorders 1 | 35
Hepatic infarction 1 | 4
Hernia, Inguinal 1 | 89
High anterior hairline 1 | 7
Hyperextensible digits 1 | 7
Hyperopia 1 | 70
Hyperreflexia 1 | 209
Hypodontia 1 | 81
Hypoplasia of the maxilla 1 | 66
Hypoplastic feet 1 | 66
Hypotrophic maxilla 1 | 66
Impaired cognition 1 | 96
Infantile onset 1 | 238
Joint hyperflexibility 1 | 78
Lactic acidemia 1 | 95
Leigh disease 1 | 100
Liver Cirrhosis 1 | 181
Long philtrum 1 | 137
Malformed pinnae 1 | 37
Maxillary retrognathia 1 | 66
Mental Retardation, X-Linked 1 | 23
Mental impairment 1 | 95
Mild Mental Retardation 1 | 70
Nasal bridge wide 1 | 236
Neonatal Hypotonia 1 | 64
Nervous System Malformations 1 | 10
ODONTOID HYPOPLASIA 1 | 16
Occult macular dystrophy 1 | 7
Pectus excavatum 1 | 100
Pediatric failure to thrive 1 | 365
Poor speech 1 | 37
Problems speaking 1 | 37
Prominent umbilicus 1 | 3
Protruding lower lip 1 | 54
Pyruvate Dehydrogenase E2 Deficiency 1 | 2
Pyruvate decarboxylase deficiency 1 | 16
Relative short stature 1 | 13
Retrusion of upper jaw bones 1 | 66
Round face 1 | 45
Round, full face 1 | 45
Shawl scrotum 1 | 9
Short hands 1 | 50
Short nose 1 | 132
Short stature, mild 1 | 13
Sialorrhea 1 | 28
Single transverse palmar crease 1 | 29
Skin hyperelastic 1 | 32
Small hand 1 | 36
Small nose 1 | 132
Spade-like hand 1 | 16
Strabismus 1 | 270
Substance-Related Disorders 1 | 115
Swine influenza 1 | 8
Syndactyly of fingers 1 | 48
Urogenital Abnormalities 1 | 9
WIDOW'S PEAK 1 | 6
X- linked recessive 1 | 110
hereditary spastic paraplegia 1 | 318
inflammatory breast cancer 1 | 286
tuberculosis 1 | 2,010

Tissue

Blood and immune system 3 | 16,909
Cardiovascular System 3 | 15,192
Digestive Tract 3 | 17,369
Endocrine System 3 | 18,159
Female tissues 3 | 17,400
Liver and Pancreas 3 | 16,750
Male tissues 3 | 17,142
Nervous System 3 | 16,725
Respiratory system 3 | 16,393
Skin and soft tissues 3 | 17,230
Urinary Tract 3 | 16,678

Target Family

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

Reactome Pathway

Latent infection of Homo sapie... 3 | 3
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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