Development Level

Tbio 8 | 11,445

IMPC Phenotype

decreased grip strength 1 | 116
preweaning lethality, complete... 1 | 979

Disease

Carcinoma 5 | 11,493
lung cancer 4 | 4,740
osteosarcoma 4 | 7,950
ovarian cancer 4 | 8,520
psoriasis 4 | 6,694
Acidosis, Lactic 3 | 97
Lactic acidemia 3 | 95
Lactic acidosis 3 | 51
Muscle hypotonia 3 | 571
Autosomal recessive predisposition 2 | 1,442
Cognitive delay 2 | 608
Global developmental delay 2 | 608
Hypertrophic Cardiomyopathy 2 | 117
Hypoglycemia 2 | 152
Increased serum lactate 2 | 60
Mental and motor retardation 2 | 608
Metabolic acidosis 2 | 90
Nonsyndromic deafness 2 | 142
Pearson syndrome 2 | 19
group 3 medulloblastoma 2 | 4,104
malignant mesothelioma 2 | 3,232
medulloblastoma, large-cell 2 | 6,241
myopathy, lactic acidosis, and sideroblastic anemia 2 | 3
Abdomen distended 1 | 43
Abnormal behavior 1 | 52
Adenocarcinoma of lung 1 | 142
Adenocarcinoma of lung (disorder) 1 | 60
Agitation 1 | 16
Arachnodactyly 1 | 49
Blood Coagulation Disorders 1 | 42
Botulism 1 | 24
Broad-based gait 1 | 19
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 1 | 1
Cardiac Arrhythmia 1 | 103
Cardiac conduction abnormalities 1 | 78
Cardiomyopathy 1 | 116
Cataract 7 1 | 32
Combined oxidative phosphorylation deficiency 1 | 14
Conduction disorder of the heart 1 | 79
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 1 | 4
Developmental regression 1 | 95
Dysarthria 1 | 192
EKG abnormalities 1 | 78
Electrocardiogram abnormal 1 | 81
Electrocardiogram change 1 | 78
Elevated hepatic transaminases 1 | 81
Hallucinations 1 | 34
Hallucinations, Sensory 1 | 33
Hepatic enzyme increased 1 | 81
Hyperreflexia 1 | 209
Icterus 1 | 82
Impaired cognition 1 | 96
Increased bilirubin level (finding) 1 | 18
Infantile onset 1 | 238
Leigh disease 1 | 100
Liver Dysfunction 1 | 99
Liver Failure, Acute 1 | 29
Liver enzymes abnormal 1 | 81
Liver function test increased 1 | 81
Liver function tests abnormal finding 1 | 81
Loss of developmental milestones 1 | 95
Low Birth Weights 1 | 69
Lumbar lordosis 1 | 35
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 1 | 2
Macrovesicular steatosis 1 | 4
Mental deterioration in childhood 1 | 95
Mental impairment 1 | 95
Microvesicular steatosis (disorder) 1 | 6
Mitochondrial myopathy 1 | 26
Mitochondrial respiratory chain defects 1 | 15
Motor delay 1 | 147
Movement Disorders 1 | 55
Muscle Spasticity 1 | 195
Myopathy 1 | 185
Myopathy with lactic acidosis and sideroblastic anemia 1 | 2
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 1 | 1
Neurodegenerative disease 1 | 414
Neurodevelopmental regression 1 | 95
No development of motor milestones 1 | 147
Optic nerve glioma 1 | 4
Optic nerve sheath meningioma 1 | 2
Poor speech 1 | 37
Precancerous Conditions 1 | 80
Prenatal onset 1 | 139
Problems speaking 1 | 37
Progressive neurologic deterioration 1 | 19
Psychomotor regression 1 | 95
Psychomotor regression beginning in infancy 1 | 95
Psychomotor regression in infants 1 | 95
Psychomotor regression, progressive 1 | 95
Restlessness 1 | 14
Retinal Degeneration 1 | 106
Sensorineural Hearing Loss (disorder) 1 | 284
Small for gestational age (disorder) 1 | 69
Subclinical abnormal liver function tests 1 | 81
Tinea pedis 1 | 29
Transaminases increased 1 | 81
Vomiting 1 | 116
X- linked recessive 1 | 110
X-linked dominant 1 | 57

Tissue

Blood and immune system 8 | 16,909
Cardiovascular System 8 | 15,192
Digestive Tract 8 | 17,369
Endocrine System 8 | 18,159
Female tissues 8 | 17,400
Liver and Pancreas 8 | 16,750
Male tissues 8 | 17,142
Nervous System 8 | 16,725
Respiratory system 8 | 16,393
Skin and soft tissues 8 | 17,230
Urinary Tract 8 | 16,678

Target Family

Enzyme 7 | 4,145
Non-IDG 1 | 12,091

Reactome Pathway

tRNA modification in the mitoc... 8 | 8
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 
tRNA pseudouridine synthase A PUS1 Tbio Enzyme -1.66676 46.4 119
Protein MTO1 homolog, mitochondrial MTO1 Tbio Non-IDG -2.45185 260.9 53
tRNA dimethylallyltransferase TRIT1 Tbio Enzyme -2.36135 237.3 69
3-hydroxyacyl-CoA dehydrogenase type-2 HSD17B10 Tbio Enzyme -2.13468 132.4 359
tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial TRMT61B Tbio Enzyme -0.49369 3.46 43
Mitochondrial ribonuclease P catalytic subunit KIAA0391 Tbio Enzyme -1.85329 69.5 61
Mitochondrial tRNA-specific 2-thiouridylase 1 TRMU Tbio Enzyme -2.17926 142.3 131
tRNA methyltransferase 10 homolog C TRMT10C Tbio Enzyme -0.80618 6.23 50