Development Level

Tbio 7 | 11,445

IMPC Phenotype

preweaning lethality, complete... 4 | 979
embryonic lethality prior to o... 3 | 239
embryonic lethality prior to t... 2 | 278
abnormal embryo size 1 | 220
abnormal eye morphology 1 | 68
abnormal spleen morphology 1 | 55
decreased circulating glucose ... 1 | 126
decreased granulocyte number 1 | 6
decreased mean corpuscular hem... 1 | 31
decreased mean corpuscular vol... 1 | 79
enlarged heart 1 | 210
hemorrhage 1 | 23
increased mean corpuscular hem... 1 | 96
short tibia 1 | 97

Disease

Leukoencephalopathy with vanishing white matter 5 | 20
Autosomal recessive predisposition 4 | 1,442
Big calvaria 4 | 147
Brain hypomyelination 4 | 11
Central nervous system demyelination 4 | 28
Cessation of head growth 4 | 5
Childhood Ataxia with Central Nervous System Hypomyelinization 4 | 6
Decreased serum progesterone 4 | 5
Delusions 4 | 11
Developmental regression 4 | 95
Dysarthria 4 | 192
Epilepsy 4 | 792
Forgetful 4 | 40
Gait, Unsteady 4 | 29
Increased head circumference 4 | 147
Increased size of cranium 4 | 147
Increased size of skull 4 | 147
Lethargy 4 | 77
Leukodystrophy 4 | 55
Leukoencephalopathies 4 | 29
Loss of developmental milestones 4 | 95
Memory Loss 4 | 40
Memory impairment 4 | 40
Mental deterioration in childhood 4 | 95
Mood swings 4 | 77
Muscle Spasticity 4 | 195
Muscle hypotonia 4 | 571
Neurodevelopmental regression 4 | 95
OVARIOLEUKODYSTROPHY 4 | 6
Optic Atrophy 4 | 242
Personality change 4 | 23
Premature Menopause 4 | 31
Primary gonadal insufficiency 4 | 9
Psychomotor regression 4 | 95
Psychomotor regression beginning in infancy 4 | 95
Psychomotor regression in infants 4 | 95
Psychomotor regression, progressive 4 | 95
Secondary physiologic amenorrhea 4 | 32
Seizures 4 | 596
Vanishing White Matter Leukodystrophy with Ovarian Failure 4 | 5
osteosarcoma 4 | 7,950
ovarian cancer 4 | 8,520
Adenocarcinoma of lung 2 | 142
Adenocarcinoma of lung (disorder) 2 | 60
Carcinoma 2 | 11,493
lung cancer 2 | 4,740
malignant mesothelioma 2 | 3,232
Alzheimer Disease 1 | 83
Alzheimer's disease 1 | 658
Amenorrhea 1 | 58
Biotinidase deficiency 1 | 14
Brain Ischemia 1 | 110
Breast Neoplasms 1 | 445
Breast cancer 1 | 3,578
Cancer 1 | 2,499
Cerebellar Ataxia 1 | 304
Cognition Disorders 1 | 32
Duchenne muscular dystrophy 1 | 601
Glycine encephalopathy 1 | 29
Intellectual disability 1 | 1,016
MEHMO syndrome 1 | 1
Mammary Neoplasms 1 | 425
Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity 1 | 1
Microcephaly 1 | 166
Mucopolysaccharidosis II 1 | 5
Multiple myeloma 1 | 1,332
Nerve Degeneration 1 | 121
Ovarian dysfunction 1 | 18
Premature ovarian failure 1 | 65
Schizophrenia 1 | 1,160
Skin cancer 1 | 469
Spinocerebellar ataxia type 2 1 | 23
Status Epilepticus 1 | 98
Type 2 diabetes mellitus 1 | 272
Vaccinia 1 | 36
Wolcott-Rallison syndrome 1 | 10
acute quadriplegic myopathy 1 | 1,158
fascioscapulohumeral muscular dystrophy 1 | 100
gastric cancer 1 | 459
hepatocellular carcinoma 1 | 547
juvenile dermatomyositis 1 | 1,187
pancreatic cancer 1 | 2,398
pancreatic carcinoma 1 | 562
psoriasis 1 | 6,694
sonic hedgehog group medulloblastoma 1 | 467
substance-related disorder 1 | 162

Tissue

Blood and immune system 7 | 16,909
Cardiovascular System 7 | 15,192
Digestive Tract 7 | 17,369
Endocrine System 7 | 18,159
Female tissues 7 | 17,400
Liver and Pancreas 7 | 16,750
Male tissues 7 | 17,142
Nervous System 7 | 16,725
Respiratory system 7 | 16,393
Skin and soft tissues 7 | 17,230
Urinary Tract 7 | 16,678

Target Family

Non-IDG 7 | 12,091

Reactome Pathway

Recycling of eIF2:GDP 7 | 7
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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