Development Level

Tbio 29 | 11,445

IMPC Phenotype

abnormal embryo size 1 | 220
abnormal skin morphology 1 | 50
embryonic growth retardation 1 | 106
embryonic lethality prior to o... 1 | 239
embryonic lethality prior to t... 1 | 278
hydrometra 1 | 53
preweaning lethality, incomple... 1 | 499
prolonged PR interval 1 | 15
small superior vagus ganglion 1 | 74

Disease

Carcinoma 26 | 11,493
diabetes mellitus 23 | 1,728
tuberculosis 23 | 2,010
Acquired immunodeficiency syndrome 22 | 197
Anemia 22 | 365
Ankylosing spondylitis 22 | 140
Arthritis 22 | 290
Cancer 22 | 2,499
Hemochromatosis 22 | 54
Hypersensitivity reaction type II disease 22 | 253
Kidney disease 22 | 430
Liver disease 22 | 237
Uveitis 22 | 103
Behcet's disease 21 | 89
Birdshot chorioretinopathy 21 | 23
Hepatitis B 21 | 108
Herpes zoster 21 | 68
Juvenile rheumatoid arthritis 21 | 111
Leprosy 21 | 73
Multiple Sclerosis 21 | 540
Primary immunodeficiency disease 21 | 54
Skin disease 21 | 66
ovarian cancer 6 | 8,520
intraductal papillary-mucinous adenoma (IPMA) 5 | 2,955
intraductal papillary-mucinous carcinoma (IPMC) 5 | 2,989
intraductal papillary-mucinous neoplasm (IPMN) 5 | 3,291
osteosarcoma 5 | 7,950
psoriasis 5 | 6,694
glioblastoma 4 | 5,792
interstitial cystitis 4 | 2,312
lung cancer 4 | 4,740
Cognitive delay 3 | 608
Global developmental delay 3 | 608
Intellectual disability 3 | 1,016
Mental and motor retardation 3 | 608
adult high grade glioma 3 | 3,801
atypical teratoid / rhabdoid tumor 3 | 5,112
lung adenocarcinoma 3 | 2,716
lung carcinoma 3 | 2,843
medulloblastoma, large-cell 3 | 6,241
pancreatic ductal adenocarcinoma liver metastasis 3 | 1,962
subependymal giant cell astrocytoma 3 | 2,287
ulcerative colitis 3 | 1,819
Astrocytoma, Pilocytic 2 | 3,081
Autosomal recessive predisposition 2 | 1,442
Cholestasis 2 | 155
Cryptorchidism 2 | 296
Dull intelligence 2 | 645
Kidney cancer 2 | 2,613
Large auricle 2 | 87
Large dysplastic ears 2 | 87
Large pinnae 2 | 87
Large prominent ears 2 | 87
Large protruding ears 2 | 87
Large, floppy ears 2 | 87
Low intelligence 2 | 645
Macrotia 2 | 87
Mental Retardation 2 | 645
Mental deficiency 2 | 645
Muscle hypotonia 2 | 571
Poor school performance 2 | 645
Schizophrenia 2 | 1,160
astrocytoma 2 | 1,146
breast carcinoma 2 | 1,638
colon cancer 2 | 1,478
ductal carcinoma in situ 2 | 1,745
ependymoma 2 | 4,679
group 4 medulloblastoma 2 | 1,855
invasive ductal carcinoma 2 | 2,951
juvenile dermatomyositis 2 | 1,187
malignant mesothelioma 2 | 3,232
pancreatic cancer 2 | 2,398
primary Sjogren syndrome 2 | 735
spina bifida 2 | 1,074
Acquired flat foot 1 | 72
Acute cystitis 1 | 35
Amyloidosis 1 | 67
Arthropathy 1 | 43
Autistic behavior 1 | 20
Bowed and upward slanting eyebrows 1 | 41
Diffuse large B-cell lymphoma 1 | 39
Edema 1 | 81
Flatfoot 1 | 73
Heart Diseases 1 | 43
Hematuria 1 | 36
Hypoactive sexual desire disorder 1 | 8
Intestinal volvulus 1 | 8
Lipidoses 1 | 19
Lipoidosis 1 | 19
Lymphatic system disease 1 | 15
Lymphoma, Large B-Cell, Diffuse 1 | 34
Macroglobulinemia 1 | 18
Menkes disease 1 | 19
Poor speech 1 | 37
Problems speaking 1 | 37
Short ulnae 1 | 24
Thick, flared eyebrows 1 | 41
ULNAR HYPOPLASIA 1 | 24
Urinary tract obstruction 1 | 11
Wide spaced nipples 1 | 46

Tissue

Blood and immune system 9 | 16,909
Cardiovascular System 9 | 15,192
Digestive Tract 9 | 17,369
Endocrine System 9 | 18,159
Female tissues 9 | 17,400
Liver and Pancreas 9 | 16,750
Male tissues 9 | 17,142
Nervous System 9 | 16,725
Respiratory system 9 | 16,393
Skin and soft tissues 9 | 17,230
Urinary Tract 9 | 16,678

Target Family

Non-IDG 29 | 12,091

Reactome Pathway

Nef mediated downregulation of... 29 | 29
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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