Development Level

Tbio 40 | 11,651
Tchem 10 | 1,388
Tclin 2 | 612
Tdark 1 | 6,593

IMPC Phenotype

preweaning lethality, complete... 9 | 979
decreased total body fat amoun... 3 | 207
embryonic lethality prior to o... 2 | 239
increased lean body mass 2 | 172
abnormal behavior 1 | 298
abnormal digit morphology 1 | 10
abnormal kidney morphology 1 | 65
abnormal testis morphology 1 | 43
absent pinna reflex 1 | 23
cataract 1 | 92
decreased bone mineral content 1 | 151
decreased circulating HDL chol... 1 | 68
decreased circulating alanine ... 1 | 47
decreased circulating alkaline... 1 | 46
decreased lactate dehydrogenas... 1 | 16
decreased lean body mass 1 | 135
embryonic lethality prior to t... 1 | 278
increased bone mineral content 1 | 108
increased circulating alkaline... 1 | 122
increased circulating sodium l... 1 | 71
increased eosinophil cell numb... 1 | 11
long tibia 1 | 25
persistence of hyaloid vascula... 1 | 33
small testis 1 | 58

Disease

Carcinoma 38 | 11,493
ovarian cancer 35 | 8,520
osteosarcoma 28 | 7,950
medulloblastoma, large-cell 24 | 6,241
pancreatic ductal adenocarcinoma liver metastasis 19 | 1,962
glioblastoma 18 | 5,792
lung cancer 18 | 4,740
psoriasis 18 | 6,694
atypical teratoid / rhabdoid tumor 17 | 5,112
Autosomal recessive predisposition 16 | 1,442
Cognitive delay 16 | 608
Global developmental delay 16 | 608
Mental and motor retardation 16 | 608
Multiple myeloma 15 | 1,332
intraductal papillary-mucinous neoplasm (IPMN) 14 | 3,291
ependymoma 13 | 4,679
Breast cancer 12 | 3,578
invasive ductal carcinoma 12 | 2,951
Acidosis, Lactic 11 | 97
Cerebellar Ataxia 11 | 304
Epilepsy 11 | 792
astrocytic glioma 11 | 2,597
group 3 medulloblastoma 11 | 4,104
non-small cell lung cancer 11 | 2,890
Cancer 10 | 2,499
Lactic acidemia 10 | 95
Muscle hypotonia 10 | 571
Pick disease 10 | 1,894
adult high grade glioma 10 | 3,801
Intellectual disability 9 | 1,016
Leigh disease 9 | 100
Seizures 9 | 596
colon cancer 9 | 1,478
lung adenocarcinoma 9 | 2,716
malignant mesothelioma 9 | 3,232
Dull intelligence 8 | 645
Low intelligence 8 | 645
Mental Retardation 8 | 645
Mental deficiency 8 | 645
Poor school performance 8 | 645
breast carcinoma 8 | 1,638
group 4 medulloblastoma 8 | 1,855
ulcerative colitis 8 | 1,819
Infantile onset 7 | 238
Lactic acidosis 7 | 51
Obesity 7 | 678
ductal carcinoma in situ 7 | 1,745
oligodendroglioma 7 | 2,850
pancreatic cancer 7 | 2,398
primitive neuroectodermal tumor 7 | 3,035
Astrocytoma, Pilocytic 6 | 3,081
Dystonia 6 | 164
Dystonic disease 6 | 106
Increased serum lactate 6 | 60
Schizophrenia 6 | 1,160
Small head 6 | 374
Stomach Neoplasms 6 | 300
acute quadriplegic myopathy 6 | 1,158
dermatomyositis 6 | 966
hereditary spastic paraplegia 6 | 318
intraductal papillary-mucinous adenoma (IPMA) 6 | 2,955
Bipolar Disorder 5 | 666
Blepharoptosis 5 | 231
Cardiomyopathies 5 | 110
Chondroma 5 | 15
Deglutition Disorders 5 | 132
Failure to gain weight 5 | 365
Hypoglycemia 5 | 152
Low Vision 5 | 174
Nystagmus 5 | 317
Optic Atrophy 5 | 242
Paraganglioma 5 | 15
Pediatric failure to thrive 5 | 365
Persistent generalized lymphadenopathy 5 | 15
Pyruvate decarboxylase deficiency 5 | 16
Short stature 5 | 531
Visual Impairment 5 | 174
Von Hippel-Lindau disease 5 | 19
active Crohn's disease 5 | 922
active ulcerative colitis 5 | 764
gastric carcinoma 5 | 807
intraductal papillary-mucinous carcinoma (IPMC) 5 | 2,989
pituitary cancer 5 | 1,972
Atopic dermatitis 4 | 952
Cerebral atrophy 4 | 178
Down syndrome 4 | 499
Endometriosis 4 | 540
Highly variable clinical phenotype 4 | 150
Highly variable phenotype and severity 4 | 150
Highly variable phenotype, even within families 4 | 150
Kidney cancer 4 | 2,613
Phenotypic variability 4 | 150
Prostatic Neoplasms 4 | 495
Waldenstrons macroglobulinemia 4 | 765
adrenocortical carcinoma 4 | 1,428
astrocytoma 4 | 1,146
juvenile dermatomyositis 4 | 1,187
lung carcinoma 4 | 2,843
mucosa-associated lymphoid tissue lymphoma 4 | 484
pancreatic carcinoma 4 | 562

Tissue

Endocrine System 53 | 18,159
Blood and immune system 52 | 16,909
Digestive Tract 52 | 17,369
Female tissues 52 | 17,400
Liver and Pancreas 52 | 16,750
Skin and soft tissues 52 | 17,230
Urinary Tract 52 | 16,678
Male tissues 51 | 17,142
Nervous System 51 | 16,725
Respiratory system 51 | 16,393
Cardiovascular System 50 | 15,192

Target Family

Enzyme 38 | 4,145
Non-IDG 6 | 12,091
Kinase 4 | 634
Transporter 3 | 473
Nuclear Receptor 2 | 48

Reactome Pathway

Pyruvate metabolism and Citric... 53 | 53
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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