Development Level

Tbio 96 | 11,651
Tclin 27 | 612
Tchem 7 | 1,388
Tdark 4 | 6,593

Collection

Kinase: IDG Consortium (Target... 1 | 125
RFA-RM-18-021 1 | 328

IMPC Phenotype

preweaning lethality, complete... 31 | 979
embryonic lethality prior to o... 10 | 239
embryonic lethality prior to t... 6 | 278
abnormal embryo size 3 | 220
abnormal bone structure 2 | 187
abnormal embryo turning 2 | 31
abnormal lens morphology 2 | 81
cataract 2 | 92
decreased circulating chloride... 2 | 30
decreased heart weight 2 | 27
decreased lean body mass 2 | 135
embryonic growth retardation 2 | 106
improved glucose tolerance 2 | 79
increased circulating sodium l... 2 | 71
increased heart weight 2 | 62
increased mean corpuscular hem... 2 | 96
increased total body fat amoun... 2 | 134
pallor 2 | 34
abnormal allantois morphology 1 | 8
abnormal behavior 1 | 298
abnormal chorioallantoic fusio... 1 | 8
abnormal clavicle morphology 1 | 6
abnormal embryo development 1 | 7
abnormal heart left ventricle ... 1 | 16
abnormal heart morphology 1 | 162
abnormal maxilla morphology 1 | 17
abnormal neural tube closure 1 | 46
abnormal neural tube morpholog... 1 | 12
abnormal retina morphology 1 | 71
abnormal rib morphology 1 | 10
abnormal tail bud morphology 1 | 8
abnormal tooth morphology 1 | 24
abnormal vertebrae morphology 1 | 18
abnormal visceral yolk sac mor... 1 | 6
abnormal vitelline vasculature... 1 | 6
abnormal vitreous body morphol... 1 | 10
decreased body weight 1 | 161
decreased bone mineral content 1 | 151
decreased circulating creatine... 1 | 4
decreased circulating free fat... 1 | 31
decreased circulating iron lev... 1 | 32
decreased circulating triglyce... 1 | 79
decreased fasted circulating g... 1 | 65
decreased grip strength 1 | 116
decreased leukocyte cell numbe... 1 | 73
decreased mean corpuscular hem... 1 | 31
decreased mean platelet volume 1 | 25
decreased red blood cell distr... 1 | 41
decreased urine magnesium leve... 1 | 3
decreased vertical activity 1 | 208
enlarged heart atrium 1 | 4
hemorrhage 1 | 23
hypoactivity 1 | 132
increased blood urea nitrogen ... 1 | 48
increased body weight 1 | 25
increased circulating alkaline... 1 | 122
increased circulating calcium ... 1 | 34
increased circulating free fat... 1 | 20
increased exploration in new e... 1 | 8
increased fasted circulating g... 1 | 76
increased mean corpuscular vol... 1 | 92
increased startle reflex 1 | 112
pale yolk sac 1 | 25
persistence of hyaloid vascula... 1 | 33
prenatal lethality prior to he... 1 | 87
preweaning lethality, incomple... 1 | 499
small adrenal glands 1 | 16
small superior vagus ganglion 1 | 74
vertebral fusion 1 | 23

Disease

ovarian cancer 75 | 8,520
Carcinoma 62 | 11,493
Leigh disease 61 | 100
Autosomal recessive predisposition 59 | 1,442
osteosarcoma 56 | 7,950
Acidosis, Lactic 55 | 97
Lactic acidemia 54 | 95
Cerebellar Ataxia 50 | 304
Increased serum lactate 41 | 60
Muscle hypotonia 41 | 571
Cognitive delay 40 | 608
Global developmental delay 40 | 608
Mental and motor retardation 40 | 608
Epilepsy 39 | 792
Blepharoptosis 38 | 231
Failure to gain weight 36 | 365
Pediatric failure to thrive 36 | 365
Seizures 36 | 596
Sensorineural Hearing Loss (disorder) 35 | 284
lung cancer 35 | 4,740
medulloblastoma, large-cell 35 | 6,241
Mitochondrial complex I deficiency 32 | 46
Lactic acidosis 31 | 51
Nystagmus 31 | 317
Highly variable clinical phenotype 29 | 150
Highly variable phenotype and severity 29 | 150
Highly variable phenotype, even within families 29 | 150
Phenotypic variability 29 | 150
psoriasis 29 | 6,694
Hypertrophic Cardiomyopathy 28 | 117
Optic Atrophy 28 | 242
Dystonia 27 | 164
pancreatic ductal adenocarcinoma liver metastasis 27 | 1,962
CSF lactate increased 26 | 33
Diabetes mellitus type 2 26 | 69
Dystonic disease 26 | 106
Treatment Refractory Type 2 Diabetes Mellitus 26 | 53
group 3 medulloblastoma 26 | 4,104
Multiple myeloma 25 | 1,332
ependymoma 25 | 4,679
Impaired exercise tolerance 24 | 42
Leigh syndrome 24 | 28
Muscle Weakness 24 | 170
Ophthalmoplegia 24 | 106
Strabismus 24 | 270
Dull intelligence 23 | 645
Intellectual disability 23 | 1,016
Low intelligence 23 | 645
Mental Retardation 23 | 645
Mental deficiency 23 | 645
Poor school performance 23 | 645
atypical teratoid / rhabdoid tumor 23 | 5,112
glioblastoma 23 | 5,792
Developmental regression 22 | 95
Hyperreflexia 22 | 209
Loss of developmental milestones 22 | 95
Mental deterioration in childhood 22 | 95
Mitochondrial Complex 1 Deficiency 22 | 28
Neurodevelopmental regression 22 | 95
Psychomotor regression 22 | 95
Psychomotor regression beginning in infancy 22 | 95
Psychomotor regression in infants 22 | 95
Psychomotor regression, progressive 22 | 95
Respiratory Failure 22 | 104
Muscle Spasticity 21 | 195
astrocytic glioma 21 | 2,597
Neuropathy 20 | 261
Hypoglycemia 19 | 152
Infantile onset 19 | 238
NADH:Q(1) Oxidoreductase deficiency 19 | 24
Cerebral atrophy 18 | 178
Mitochondrial myopathy 18 | 26
Myopathy 18 | 185
Neurogenic Muscular Atrophy 18 | 139
Neurogenic muscle atrophy, especially in the lower limbs 18 | 139
Progressive disorder 18 | 142
Ragged-red fibers 18 | 21
Skeletal muscle atrophy 18 | 139
malignant mesothelioma 18 | 3,232
muscle degeneration 18 | 139
Retinitis Pigmentosa 17 | 226
Abnormal mitochondria in muscle tissue 16 | 20
Atrophy of cerebellum 16 | 103
Breast cancer 16 | 3,578
Cardiomyopathy 16 | 116
Cerebellar degeneration 16 | 103
Encephalopathies 16 | 43
Feeding difficulties in infancy 16 | 175
Infratentorial atrophy 16 | 103
invasive ductal carcinoma 16 | 2,951
Growth delay 15 | 114
Growth failure 15 | 114
Growth retardation 15 | 115
Neurodegenerative disease 15 | 414
Poor growth 15 | 114
Very poor growth 15 | 114
Elevated creatine kinase 14 | 110
adult high grade glioma 14 | 3,801
diabetes mellitus 14 | 1,728
intraductal papillary-mucinous neoplasm (IPMN) 14 | 3,291

Tissue

Blood and immune system 134 | 16,909
Cardiovascular System 134 | 15,192
Digestive Tract 134 | 17,369
Endocrine System 134 | 18,159
Female tissues 134 | 17,400
Liver and Pancreas 134 | 16,750
Male tissues 134 | 17,142
Nervous System 134 | 16,725
Respiratory system 134 | 16,393
Skin and soft tissues 134 | 17,230
Urinary Tract 134 | 16,678

Target Family

Enzyme 92 | 4,145
Non-IDG 35 | 12,091
Kinase 4 | 634
Transporter 2 | 473
Transcription Factor 1 | 1,400

UniProt Keyword

Primary mitochondrial disease 134 | 134
Complete proteome 20,231 | 20,231
Reference proteome 20,231 | 20,231
Polymorphism 12,194 | 12,194
Alternative splicing 10,528 | 10,528
Phosphoprotein 8,216 | 8,216
Membrane 7,361 | 7,361
3D-structure 6,226 | 6,226
Nucleus 5,259 | 5,259
Transmembrane 5,228 | 5,228
Transmembrane helix 5,207 | 5,207
Cytoplasm 4,952 | 4,952
Repeat 4,916 | 4,916
Glycoprotein 4,623 | 4,623
Metal-binding 3,672 | 3,672
Disulfide bond 3,599 | 3,599
Signal 3,561 | 3,561
Acetylation 3,409 | 3,409
Cell membrane 3,390 | 3,390
Direct protein sequencing 2,872 | 2,872
Disease mutation 2,804 | 2,804
Ubl conjugation 2,439 | 2,439
Transcription 2,402 | 2,402
Zinc 2,356 | 2,356
Transcription regulation 2,336 | 2,336
Coiled coil 2,153 | 2,153
Secreted 2,041 | 2,041
DNA-binding 2,008 | 2,008
Transport 1,985 | 1,985
Zinc-finger 1,785 | 1,785
Transferase 1,782 | 1,782
Nucleotide-binding 1,775 | 1,775
Isopeptide bond 1,739 | 1,739
Hydrolase 1,654 | 1,654
Receptor 1,502 | 1,502
ATP-binding 1,380 | 1,380
Cytoskeleton 1,182 | 1,182
Mitochondrion 1,147 | 1,147
Endoplasmic reticulum 1,119 | 1,119
Methylation 973 | 973
Developmental protein 965 | 965
Transducer 887 | 887
Calcium 875 | 875
Golgi apparatus 838 | 838
G-protein coupled receptor 830 | 830
Cell projection 826 | 826
Lipoprotein 825 | 825
Immunity 717 | 717
Cell junction 709 | 709
Differentiation 703 | 703
Ubl conjugation pathway 684 | 684
RNA-binding 682 | 682
Activator 672 | 672
Cell cycle 647 | 647
Kinase 637 | 637
Ion transport 631 | 631
Immunoglobulin domain 625 | 625
Protein transport 612 | 612
Repressor 602 | 602
Sensory transduction 600 | 600
Oxidoreductase 571 | 571
Magnesium 558 | 558
Transit peptide 544 | 544
Cytoplasmic vesicle 535 | 535
Protease 535 | 535
Apoptosis 533 | 533
Endosome 525 | 525
Cell adhesion 482 | 482
Host-virus interaction 472 | 472
Signal-anchor 458 | 458
Olfaction 435 | 435
Lipid metabolism 432 | 432
Chromosome 388 | 388
Serine-threonine-protein kinas... 388 | 388
Cell division 383 | 383
Synapse 378 | 378
DNA damage 366 | 366
Mental retardation 362 | 362
Ion channel 348 | 348
mRNA processing 340 | 340
GTP-binding 339 | 339
Palmitate 331 | 331
Chromosomal rearrangement 324 | 324
Iron 319 | 319
Neurodegeneration 318 | 318
Leucine-rich repeat 312 | 312
DNA repair 306 | 306
Lysosome 301 | 301
Cleavage on pair of basic resi... 298 | 298
Innate immunity 291 | 291
Chromatin regulator 290 | 290
Ribonucleoprotein 286 | 286
Microtubule 281 | 281
Adaptive immunity 280 | 280
WD repeat 277 | 277
Mitochondrion inner membrane 276 | 276
Mitosis 273 | 273
Actin-binding 272 | 272
mRNA splicing 264 | 264
Neurogenesis 260 | 260
ANK repeat 258 | 258

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Thymidine phosphorylase TYMP Tclin Enzyme -2.83170 677.8 514
Transmembrane protein 70, mitochondrial TMEM70 Tbio Non-IDG -1.36229 24.6 93
Protein Mpv17 MPV17 Tbio Non-IDG -1.67807 47.6 134
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 NDUFAF3 Tclin Enzyme -2.16371 139.2 56
F-box/LRR-repeat protein 4 FBXL4 Tbio Non-IDG -1.13805 13.4 82
Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial SUCLG1 Tbio Enzyme -2.00981 99.0 78
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial NDUFB11 Tclin Enzyme -2.18376 150.2 86
Thioredoxin, mitochondrial TXN2 Tbio Non-IDG -2.05954 125.2 260
5-demethoxyubiquinone hydroxylase, mitochondrial COQ7 Tbio Enzyme -2.20032 153.4 126
Mitochondrial intermediate peptidase MIPEP Tbio Enzyme -1.63137 42.6 277