Development Level

Tbio 40 | 11,445
Tclin 13 | 613
Tdark 6 | 6,588
Tchem 1 | 1,598

IMPC Phenotype

preweaning lethality, complete... 12 | 979
abnormal behavior 5 | 298
cataract 3 | 92
embryonic lethality prior to t... 3 | 278
abnormal embryo size 2 | 220
decreased body weight 2 | 161
decreased vertical activity 2 | 208
embryonic growth retardation 2 | 106
embryonic lethality prior to o... 2 | 239
hypoactivity 2 | 132
abnormal allantois morphology 1 | 8
abnormal behavioral response t... 1 | 66
abnormal chorioallantoic fusio... 1 | 8
abnormal embryo development 1 | 7
abnormal embryo turning 1 | 31
abnormal epididymis morphology 1 | 42
abnormal glucose homeostasis 1 | 4
abnormal heart morphology 1 | 162
abnormal kidney morphology 1 | 65
abnormal lens morphology 1 | 81
abnormal neural tube morpholog... 1 | 12
abnormal retina morphology 1 | 71
abnormal retinal blood vessel ... 1 | 26
abnormal retinal vasculature m... 1 | 27
abnormal stomach morphology 1 | 10
abnormal visceral yolk sac mor... 1 | 6
abnormal vitelline vasculature... 1 | 6
decreased IgM level 1 | 1
decreased blood urea nitrogen ... 1 | 51
decreased circulating phosphat... 1 | 27
decreased circulating triglyce... 1 | 79
decreased exploration in new e... 1 | 11
decreased fasted circulating g... 1 | 65
decreased startle reflex 1 | 75
enlarged lymph nodes 1 | 37
hemorrhage 1 | 23
impaired pupillary reflex 1 | 26
increased circulating alkaline... 1 | 122
increased circulating amylase ... 1 | 25
increased circulating choleste... 1 | 66
increased circulating phosphat... 1 | 26
increased circulating sodium l... 1 | 71
increased lean body mass 1 | 172
increased or absent threshold ... 1 | 101
increased prepulse inhibition 1 | 32
increased vertical activity 1 | 24
macrophthalmia 1 | 2
mammalian phenotype 1 | 17
pale yolk sac 1 | 25
pallor 1 | 34
prenatal lethality prior to he... 1 | 87
preweaning lethality, incomple... 1 | 499
small adrenal glands 1 | 16
small superior vagus ganglion 1 | 74
small thymus 1 | 16

Disease

Carcinoma 36 | 11,493
ovarian cancer 30 | 8,520
osteosarcoma 26 | 7,950
Autosomal recessive predisposition 22 | 1,442
psoriasis 20 | 6,694
lung cancer 19 | 4,740
medulloblastoma, large-cell 19 | 6,241
glioblastoma 16 | 5,792
group 3 medulloblastoma 15 | 4,104
malignant mesothelioma 15 | 3,232
Cognitive delay 14 | 608
Global developmental delay 14 | 608
Mental and motor retardation 14 | 608
atypical teratoid / rhabdoid tumor 14 | 5,112
pancreatic ductal adenocarcinoma liver metastasis 14 | 1,962
primitive neuroectodermal tumor 14 | 3,035
Breast cancer 13 | 3,578
Muscle hypotonia 13 | 571
Epilepsy 12 | 792
Seizures 12 | 596
adult high grade glioma 12 | 3,801
non-small cell lung cancer 12 | 2,890
Failure to gain weight 10 | 365
Pediatric failure to thrive 10 | 365
Cancer 9 | 2,499
Dull intelligence 9 | 645
Intellectual disability 9 | 1,016
Low intelligence 9 | 645
Mental Retardation 9 | 645
Mental deficiency 9 | 645
Poor school performance 9 | 645
colon cancer 9 | 1,478
ependymoma 9 | 4,679
invasive ductal carcinoma 9 | 2,951
lung adenocarcinoma 9 | 2,716
Cerebellar Ataxia 8 | 304
Mitochondrial complex I deficiency 8 | 46
Nystagmus 8 | 317
Strabismus 8 | 270
astrocytic glioma 8 | 2,597
intraductal papillary-mucinous neoplasm (IPMN) 8 | 3,291
Acidosis, Lactic 7 | 97
Blepharoptosis 7 | 231
Feeding difficulties in infancy 7 | 175
Growth delay 7 | 114
Growth failure 7 | 114
Growth retardation 7 | 115
Kidney cancer 7 | 2,613
Lactic acidemia 7 | 95
Leigh disease 7 | 100
Lethargy 7 | 77
Leukodystrophy 7 | 55
Multiple myeloma 7 | 1,332
Muscle Spasticity 7 | 195
NADH:Q(1) Oxidoreductase deficiency 7 | 24
Poor growth 7 | 114
Respiratory Failure 7 | 104
Schizophrenia 7 | 1,160
Sensorineural Hearing Loss (disorder) 7 | 284
Small head 7 | 374
Very poor growth 7 | 114
breast carcinoma 7 | 1,638
cystic fibrosis 7 | 1,696
intraductal papillary-mucinous carcinoma (IPMC) 7 | 2,989
non primary Sjogren syndrome sicca 7 | 891
oligodendroglioma 7 | 2,850
Anemia 6 | 365
Decreased tendon reflex 6 | 122
Diabetes mellitus type 2 6 | 69
Highly variable clinical phenotype 6 | 150
Highly variable phenotype and severity 6 | 150
Highly variable phenotype, even within families 6 | 150
Hyperreflexia 6 | 209
Mitochondrial Complex 1 Deficiency 6 | 28
Muscle Weakness 6 | 170
Phenotypic variability 6 | 150
Pick disease 6 | 1,894
Stomach Neoplasms 6 | 300
Treatment Refractory Type 2 Diabetes Mellitus 6 | 53
adrenocortical carcinoma 6 | 1,428
aldosterone-producing adenoma 6 | 665
lung carcinoma 6 | 2,843
tuberculosis 6 | 2,010
ulcerative colitis 6 | 1,819
Astrocytoma, Pilocytic 5 | 3,081
Atrophy of cerebellum 5 | 103
Cerebellar degeneration 5 | 103
Cerebral atrophy 5 | 178
Developmental regression 5 | 95
Hypoglycemia 5 | 152
Impaired exercise tolerance 5 | 42
Loss of developmental milestones 5 | 95
Optic Atrophy 5 | 242
Psychomotor regression 5 | 95
Psychomotor regression beginning in infancy 5 | 95
Psychomotor regression in infants 5 | 95
Psychomotor regression, progressive 5 | 95
diabetes mellitus 5 | 1,728
nasopharyngeal carcinoma 5 | 1,058
pancreatic cancer 5 | 2,398

Tissue

Blood and immune system 58 | 16,909
Digestive Tract 58 | 17,369
Endocrine System 58 | 18,159
Female tissues 58 | 17,400
Liver and Pancreas 58 | 16,750
Male tissues 58 | 17,142
Respiratory system 58 | 16,393
Skin and soft tissues 58 | 17,230
Urinary Tract 58 | 16,678
Nervous System 57 | 16,725
Cardiovascular System 56 | 15,192

Target Family

Enzyme 33 | 4,145
Non-IDG 26 | 12,091
Epigenetic 1 | 242

UniProt Keyword

Iron-sulfur 60 | 60
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 
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial NDUFS1 Tclin Enzyme -1.42734 26.2 214
Iron-sulfur cluster assembly 1 homolog, mitochondrial ISCA1 Tbio Non-IDG -1.68100 45.7 44
Cytosolic Fe-S cluster assembly factor NUBP2 NUBP2 Tbio Non-IDG -1.46950 32.1 59
Cysteine desulfurase, mitochondrial NFS1 Tbio Enzyme -1.70267 46.3 131
S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1 Tbio Enzyme -1.13540 12.8 55
Endonuclease III-like protein 1 NTHL1 Tbio Enzyme -1.85066 66.8 155
Aconitate hydratase, mitochondrial ACO2 Tbio Enzyme -2.21106 157.2 307
Adenine DNA glycosylase MUTYH Tbio Enzyme -2.86910 750.8 255
Cytosolic Fe-S cluster assembly factor NUBP1 NUBP1 Tbio Non-IDG -1.31867 20.0 105
Dihydropyrimidine dehydrogenase [NADP(+)] DPYD Tclin Enzyme -2.62432 395.0 159