Development Level

Tbio 34 | 11,445
Tdark 7 | 6,588

IMPC Phenotype

preweaning lethality, complete... 8 | 979
embryonic lethality prior to o... 4 | 239
embryonic lethality prior to t... 4 | 278
abnormal embryo size 1 | 220
abnormal gait 1 | 69
abnormal hair growth 1 | 10
abnormal humerus morphology 1 | 11
decreased bone mineral content 1 | 151
decreased circulating HDL chol... 1 | 68
decreased circulating choleste... 1 | 93
decreased circulating iron lev... 1 | 32
decreased circulating sodium l... 1 | 22
embryonic growth retardation 1 | 106
enlarged lymph nodes 1 | 37
enlarged urinary bladder 1 | 8
increased bone mineral content 1 | 108
increased circulating free fat... 1 | 20
increased circulating iron lev... 1 | 30
increased circulating potassiu... 1 | 29

Disease

ovarian cancer 23 | 8,520
Carcinoma 20 | 11,493
osteosarcoma 18 | 7,950
lung cancer 16 | 4,740
psoriasis 15 | 6,694
ependymoma 9 | 4,679
malignant mesothelioma 9 | 3,232
medulloblastoma, large-cell 9 | 6,241
astrocytic glioma 8 | 2,597
group 3 medulloblastoma 8 | 4,104
atypical teratoid / rhabdoid tumor 7 | 5,112
Breast cancer 6 | 3,578
Kidney cancer 6 | 2,613
Multiple myeloma 6 | 1,332
breast carcinoma 6 | 1,638
glioblastoma 6 | 5,792
invasive ductal carcinoma 6 | 2,951
lung adenocarcinoma 6 | 2,716
Pick disease 5 | 1,894
group 4 medulloblastoma 5 | 1,855
intraductal papillary-mucinous adenoma (IPMA) 5 | 2,955
tuberculosis 5 | 2,010
Autosomal recessive predisposition 4 | 1,442
Cognitive delay 4 | 608
Global developmental delay 4 | 608
Hereditary spherocytosis type 5 4 | 12
Intellectual disability 4 | 1,016
Mental and motor retardation 4 | 608
Treacher Collins syndrome 4 | 27
acute myeloid leukemia 4 | 783
astrocytoma 4 | 1,146
ductal carcinoma in situ 4 | 1,745
oligodendroglioma 4 | 2,850
Atrophy of cerebellum 3 | 103
CNS hypomyelination 3 | 17
Cerebellar Ataxia 3 | 304
Cerebellar Dysmetria 3 | 56
Cerebellar degeneration 3 | 103
Cerebral atrophy 3 | 178
Decreased projection of midface 3 | 105
Deglutition Disorders 3 | 132
Dull intelligence 3 | 645
Dysarthria 3 | 192
Dystonia 3 | 164
Dystonic disease 3 | 106
Frontal bossing 3 | 157
Hypodontia 3 | 81
Hypomyelination 3 | 17
Hypomyelination-hypogonadotropic-hypogonadism-hypodontia syndrome 3 | 3
Hypoplasia of corpus callosum 3 | 90
Hypotrophic malar bone 3 | 129
Hypotrophic midface 3 | 105
Infratentorial atrophy 3 | 103
Leukodystrophy 3 | 55
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 3 | 3
Low intelligence 3 | 645
Malar flattening 3 | 129
Mental Retardation 3 | 645
Mental deficiency 3 | 645
Midface retrusion 3 | 105
Poor school performance 3 | 645
Primary hypogonadism 3 | 37
Progressive disorder 3 | 142
Retrognathia 3 | 54
Short stature 3 | 531
Small midface 3 | 105
Tooth agenesis 3 | 44
Treacher Collins syndrome 1 3 | 4
acute quadriplegic myopathy 3 | 1,158
dermatomyositis 3 | 966
diabetes mellitus 3 | 1,728
intraductal papillary-mucinous carcinoma (IPMC) 3 | 2,989
lung carcinoma 3 | 2,843
non primary Sjogren syndrome sicca 3 | 891
pituitary cancer 3 | 1,972
primitive neuroectodermal tumor 3 | 3,035
spina bifida 3 | 1,074
subependymal giant cell astrocytoma 3 | 2,287
Abnormal skeletal development 2 | 60
Abnormal upper motor neuron morphology 2 | 11
Acquired scoliosis 2 | 281
Babinski Reflex 2 | 100
Broad flat nasal bridge 2 | 236
Cardiovascular system disease 2 | 246
Congenital small ears 2 | 48
Curvature of spine 2 | 282
Highly variable clinical phenotype 2 | 150
Highly variable phenotype and severity 2 | 150
Highly variable phenotype, even within families 2 | 150
Hyperreflexia 2 | 209
Low Vision 2 | 174
Marshall-Smith syndrome 2 | 5
Muscle Spasticity 2 | 195
Myopia 2 | 176
Nasal bridge wide 2 | 236
Osteochondrodysplasias 2 | 72
Phenotypic variability 2 | 150
Slender, gracile long tubular bones 2 | 21
Strabismus 2 | 270
Visual Impairment 2 | 174

Tissue

Blood and immune system 40 | 16,909
Cardiovascular System 40 | 15,192
Digestive Tract 40 | 17,369
Endocrine System 40 | 18,159
Female tissues 40 | 17,400
Liver and Pancreas 40 | 16,750
Male tissues 40 | 17,142
Nervous System 40 | 16,725
Respiratory system 40 | 16,393
Skin and soft tissues 40 | 17,230
Urinary Tract 40 | 16,678

Target Family

Enzyme 18 | 4,145
Non-IDG 14 | 12,091
Transcription Factor 8 | 1,400
Epigenetic 1 | 242

Reactome Pathway

RNA Polymerase III Abortive An... 41 | 41
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 
General transcription factor 3C polypeptide 5 GTF3C5 Tdark Non-IDG -0.17540 0.88 147
DNA-directed RNA polymerase III subunit RPC2 POLR3B Tbio Enzyme -1.25377 19.0 105
snRNA-activating protein complex subunit 2 SNAPC2 Tdark Non-IDG -0.54824 3.00 130
DNA-directed RNA polymerases I, II, and III subunit RPABC2 POLR2F Tbio Enzyme -1.13403 13.9 68
Nuclear factor 1 A-type NFIA Tbio Transcription Factor -1.80602 47.4 163
DNA-directed RNA polymerases I, II, and III subunit RPABC4 POLR2K Tbio Enzyme -0.90716 7.36 65
Nuclear factor 1 X-type NFIX Tbio Transcription Factor -1.70265 49.7 74
DNA-directed RNA polymerase III subunit RPC8 POLR3H Tbio Enzyme -1.32118 21.0 104
DNA-directed RNA polymerases I, II, and III subunit RPABC3 POLR2H Tbio Enzyme -1.13403 13.5 180
DNA-directed RNA polymerases I, II, and III subunit RPABC5 POLR2L Tbio Enzyme -1.12793 13.8 66