Development Level

Tbio 18 | 11,178
Tchem 2 | 1,885
Tclin 1 | 612

IMPC Phenotype

preweaning lethality, complete... 6 | 979
embryonic lethality prior to o... 2 | 239
abnormal behavior 1 | 298
abnormal digit morphology 1 | 10
abnormal kidney morphology 1 | 65
decreased bone mineral content 1 | 151
decreased lean body mass 1 | 135
decreased total body fat amoun... 1 | 207
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 lean body mass 1 | 172
long tibia 1 | 25

Disease

Carcinoma 18 | 11,192
ovarian cancer 16 | 8,297
pancreatic ductal adenocarcinoma liver metastasis 12 | 1,911
Cognitive delay 10 | 596
Global developmental delay 10 | 596
Mental and motor retardation 10 | 596
psoriasis 10 | 6,514
Autosomal recessive predisposition 9 | 1,407
Cerebellar Ataxia 8 | 302
Multiple myeloma 8 | 1,296
atypical teratoid / rhabdoid tumor 8 | 4,971
medulloblastoma, large-cell 8 | 6,086
Epilepsy 7 | 775
Muscle hypotonia 7 | 562
glioblastoma 7 | 5,635
osteosarcoma 7 | 7,766
Seizures 6 | 584
lung cancer 6 | 4,607
Acidosis, Lactic 5 | 97
Breast cancer 5 | 3,469
Chondroma 5 | 15
Dull intelligence 5 | 634
Failure to gain weight 5 | 359
Intellectual disability 5 | 998
Lactic acidemia 5 | 95
Low Vision 5 | 167
Low intelligence 5 | 634
Mental Retardation 5 | 634
Mental deficiency 5 | 634
Paraganglioma 5 | 15
Pediatric failure to thrive 5 | 359
Persistent generalized lymphadenopathy 5 | 15
Pick disease 5 | 1,856
Poor school performance 5 | 634
Short stature 5 | 514
Stomach Neoplasms 5 | 287
Visual Impairment 5 | 167
Von Hippel-Lindau disease 5 | 19
astrocytic glioma 5 | 2,530
ependymoma 5 | 4,559
group 3 medulloblastoma 5 | 4,002
ulcerative colitis 5 | 1,765
Deglutition Disorders 4 | 128
Dystonia 4 | 163
Dystonic disease 4 | 105
Gastrointestinal Hemorrhage 4 | 49
Gastrointestinal Stromal Tumors 4 | 46
Gastrointestinal stromal tumor 4 | 62
Hyperhidrosis disorder 4 | 78
Impaired cognition 4 | 95
Increased sweating 4 | 78
Infantile onset 4 | 236
Intestinal Obstruction 4 | 30
Leigh disease 4 | 100
Mental impairment 4 | 95
Multiple, subcutaneous nodules 4 | 49
Obesity 4 | 655
Ophthalmoplegia 4 | 105
Optic Atrophy 4 | 239
Papilloma 4 | 44
Phaeochromocytoma 4 | 20
Subcutaneous nodule 4 | 49
Sweating 4 | 78
adult high grade glioma 4 | 3,701
breast carcinoma 4 | 1,589
invasive ductal carcinoma 4 | 2,867
malignant mesothelioma 4 | 3,135
non-small cell lung cancer 4 | 2,799
Abdominal Pain 3 | 95
Adult onset 3 | 81
Big calvaria 3 | 147
Blepharoptosis 3 | 229
Congenital deafness 3 | 180
Constipation 3 | 174
Deafness 3 | 193
Degenerative brain disorder 3 | 98
Degenerative polyarthritis 3 | 110
Dyschezia 3 | 129
Hearing Loss, Partial 3 | 180
Heart failure 3 | 157
Highly variable clinical phenotype 3 | 147
Highly variable phenotype and severity 3 | 147
Highly variable phenotype, even within families 3 | 147
Hypertrophic Cardiomyopathy 3 | 115
Increased head circumference 3 | 147
Increased serum lactate 3 | 60
Increased size of cranium 3 | 147
Increased size of skull 3 | 147
Macroglossia 3 | 62
Neurogenic Muscular Atrophy 3 | 136
Neurogenic muscle atrophy, especially in the lower limbs 3 | 136
Osteoarthritis 3 | 179
Sensorineural Hearing Loss (disorder) 3 | 281
Skeletal muscle atrophy 3 | 136
Supratentorial atrophy 3 | 93
Tachycardia 3 | 42
Weight decreased 3 | 101
hearing impairment 3 | 194
hereditary spastic paraplegia 3 | 313
muscle degeneration 3 | 136

Tissue

Blood and immune system 21 | 16,909
Cardiovascular System 21 | 15,192
Digestive Tract 21 | 17,369
Endocrine System 21 | 18,159
Female tissues 21 | 17,400
Liver and Pancreas 21 | 16,750
Male tissues 21 | 17,142
Nervous System 21 | 16,725
Respiratory system 21 | 16,393
Skin and soft tissues 21 | 17,230
Urinary Tract 21 | 16,678

Target Family

Enzyme 19 | 4,145
Non-IDG 2 | 12,091

Reactome Pathway

Citric acid cycle (TCA cycle) 21 | 21
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 
NADP-dependent malic enzyme, mitochondrial ME3 Tbio Non-IDG -2.26706 182.2 81
2-oxoglutarate dehydrogenase, mitochondrial OGDH Tbio Enzyme -2.47825 290.5 147
Fumarate hydratase, mitochondrial FH Tbio Enzyme -2.42296 251.7 363
Succinate dehydrogenase cytochrome b560 subunit, mitochondrial SDHC Tbio Enzyme -2.73791 419.9 129
NAD(P) transhydrogenase, mitochondrial NNT Tbio Enzyme -2.49624 309.2 112
Malate dehydrogenase, mitochondrial MDH2 Tchem Enzyme -2.25018 186.1 256
Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial DLST Tbio Enzyme -1.76775 55.4 129
Isocitrate dehydrogenase [NADP], mitochondrial IDH2 Tclin Enzyme -2.94039 813.3 296
Citrate synthase, mitochondrial CS Tbio Enzyme -2.61735 325.4 239
NAD-dependent malic enzyme, mitochondrial ME2 Tbio Non-IDG -1.93337 84.6 117