Development Level

Tbio 10 | 11,445

IMPC Phenotype

decreased body weight 2 | 161
decreased total body fat amoun... 2 | 207
abnormal coat-hair pigmentatio... 1 | 64
decreased bone mineral content 1 | 151
decreased circulating LDL chol... 1 | 38
decreased circulating alanine ... 1 | 47
decreased circulating choleste... 1 | 93
decreased circulating serum al... 1 | 82
decreased circulating total pr... 1 | 49
decreased lean body mass 1 | 135
decreased mean corpuscular hem... 1 | 50
preweaning lethality, complete... 1 | 979
preweaning lethality, incomple... 1 | 499

Disease

Carcinoma 10 | 11,493
medulloblastoma, large-cell 8 | 6,241
ovarian cancer 8 | 8,520
Kidney cancer 7 | 2,613
glioblastoma 7 | 5,792
osteosarcoma 7 | 7,950
primitive neuroectodermal tumor 7 | 3,035
psoriasis 7 | 6,694
Cornelia de Lange syndrome 6 | 21
Breast cancer 5 | 3,578
atypical teratoid / rhabdoid tumor 5 | 5,112
ependymoma 5 | 4,679
group 3 medulloblastoma 5 | 4,104
malignant mesothelioma 5 | 3,232
oligodendroglioma 5 | 2,850
Astrocytoma, Pilocytic 4 | 3,081
Intellectual disability 4 | 1,016
Leukemia, Myeloid 4 | 18
Myeloid Leukemia 4 | 19
Rheumatoid arthritis 4 | 1,191
Roberts syndrome 4 | 15
Waldenstrons macroglobulinemia 4 | 765
adult high grade glioma 4 | 3,801
intraductal papillary-mucinous carcinoma (IPMC) 4 | 2,989
Abnormally low-pitched voice 3 | 6
Absent auditory canals 3 | 23
Absent external auditory canals 3 | 23
Anteverted nostril 3 | 191
Anxiety 3 | 136
Anxiety disease 3 | 113
Atresia of the external auditory canal 3 | 23
Atretic auditory canal 3 | 23
Attention deficit hyperactivity disorder 3 | 278
Bilateral fifth finger clinodactyly 3 | 110
Bilateral single transverse palmar creases 3 | 34
Blepharitis 3 | 23
Blepharoptosis 3 | 231
Bowed and upward slanting eyebrows 3 | 41
Brachycephaly 3 | 88
Broad cranium shape 3 | 88
Bushy eyebrows 3 | 49
Byzanthine arch palate 3 | 194
Cellulitis of eyelid 3 | 17
Cognitive delay 3 | 608
Concave bridge of nose 3 | 195
Conductive hearing loss 3 | 123
Curvature of little finger 3 | 110
Cutis marmorata 3 | 32
Delayed bone age 3 | 136
Depressed nasal bridge 3 | 195
Depressed nasal root/bridge 3 | 195
Downturned corners of mouth 3 | 48
Failure to gain weight 3 | 365
Feeding difficulties in infancy 3 | 175
Gastroesophageal reflux disease 3 | 110
Generalized hirsutism 3 | 36
Heartburn 3 | 78
Hypoplasia of nipple 3 | 16
Hypoplastic feet 3 | 66
Hypoplastic mandible condyle 3 | 275
Intrauterine retardation 3 | 176
Joint stiffness 3 | 84
Late tooth eruption 3 | 61
Long eyelashes 3 | 37
Long philtrum 3 | 137
Low anterior hairline 3 | 30
Low posterior hairline 3 | 52
Low-set, posteriorly rotated ears 3 | 110
Mental and motor retardation 3 | 608
Micromelia 3 | 58
Multicystic Dysplastic Kidney 3 | 52
Muscle Hypertonia 3 | 88
Myopia 3 | 176
Obsessive compulsive behavior 3 | 25
Pediatric failure to thrive 3 | 365
Penile hypospadias 3 | 106
Premature Birth 3 | 77
Premature birth of newborn 3 | 67
Proximally placed thumbs 3 | 17
Radioulnar synostosis 3 | 35
Sensorineural Hearing Loss (disorder) 3 | 284
Severe mental retardation (I.Q. 20-34) 3 | 99
Severe postnatal growth retardation 3 | 16
Short nose 3 | 132
Sleep disturbances 3 | 37
Small hand 3 | 36
Small labia majora 3 | 16
Small nose 3 | 132
Speech Disorders 3 | 58
Syndactyly of the toes 3 | 45
Synophrys 3 | 40
Thick, flared eyebrows 3 | 41
Thin lips 3 | 49
Vesico-Ureteral Reflux 3 | 33
Wide skull shape 3 | 88
Widely spaced teeth 3 | 31
acute quadriplegic myopathy 3 | 1,158
astrocytic glioma 3 | 2,597
lung adenocarcinoma 3 | 2,716
obsessive-compulsive disorder 3 | 61

Tissue

Blood and immune system 10 | 16,909
Cardiovascular System 10 | 15,192
Digestive Tract 10 | 17,369
Endocrine System 10 | 18,159
Female tissues 10 | 17,400
Liver and Pancreas 10 | 16,750
Male tissues 10 | 17,142
Nervous System 10 | 16,725
Respiratory system 10 | 16,393
Skin and soft tissues 10 | 17,230
Urinary Tract 10 | 16,678

Target Family

Non-IDG 8 | 12,091
Enzyme 2 | 4,145

Reactome Pathway

Establishment of Sister Chroma... 10 | 10
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

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
N-acetyltransferase ESCO1 ESCO1 Tbio Enzyme -1.65145 44.6 49
Cohesin subunit SA-1 STAG1 Tbio Non-IDG -2.47449 292.2 200
Structural maintenance of chromosomes protein 3 SMC3 Tbio Non-IDG -2.10209 115.2 244
N-acetyltransferase ESCO2 ESCO2 Tbio Enzyme -2.41255 257.2 66
Structural maintenance of chromosomes protein 1A SMC1A Tbio Non-IDG -1.84148 64.7 686
Sister chromatid cohesion protein PDS5 homolog B PDS5B Tbio Non-IDG -2.56388 363.0 103
Sister chromatid cohesion protein PDS5 homolog A PDS5A Tbio Non-IDG -1.71103 53.7 172
Wings apart-like protein homolog WAPL Tbio Non-IDG -2.39021 215.2 125
Cohesin subunit SA-2 STAG2 Tbio Non-IDG -2.11039 130.4 227
Double-strand-break repair protein rad21 homolog RAD21 Tbio Non-IDG -2.27227 173.4 208