Development Level

Tbio 24 | 11,445
Tclin 10 | 613
Tdark 2 | 6,588

IMPC Phenotype

preweaning lethality, complete... 8 | 979
abnormal behavior 3 | 298
cataract 2 | 92
embryonic lethality prior to o... 2 | 239
abnormal allantois morphology 1 | 8
abnormal chorioallantoic fusio... 1 | 8
abnormal embryo development 1 | 7
abnormal embryo size 1 | 220
abnormal embryo turning 1 | 31
abnormal epididymis morphology 1 | 42
abnormal heart morphology 1 | 162
abnormal kidney morphology 1 | 65
abnormal lens morphology 1 | 81
abnormal neural tube morpholog... 1 | 12
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 body weight 1 | 161
decreased circulating phosphat... 1 | 27
decreased circulating triglyce... 1 | 79
decreased vertical activity 1 | 208
embryonic growth retardation 1 | 106
embryonic lethality prior to t... 1 | 278
enlarged lymph nodes 1 | 37
hemorrhage 1 | 23
hypoactivity 1 | 132
impaired pupillary reflex 1 | 26
increased circulating alkaline... 1 | 122
increased circulating amylase ... 1 | 25
increased circulating choleste... 1 | 66
increased circulating sodium l... 1 | 71
increased or absent threshold ... 1 | 101
increased prepulse inhibition 1 | 32
increased vertical activity 1 | 24
pale yolk sac 1 | 25
pallor 1 | 34
preweaning lethality, incomple... 1 | 499
small adrenal glands 1 | 16
small superior vagus ganglion 1 | 74
small thymus 1 | 16

Disease

Carcinoma 26 | 11,493
Autosomal recessive predisposition 16 | 1,442
ovarian cancer 16 | 8,520
osteosarcoma 15 | 7,950
psoriasis 14 | 6,694
group 3 medulloblastoma 12 | 4,104
malignant mesothelioma 12 | 3,232
medulloblastoma, large-cell 12 | 6,241
Cognitive delay 11 | 608
Global developmental delay 11 | 608
Mental and motor retardation 11 | 608
Muscle hypotonia 11 | 571
glioblastoma 11 | 5,792
lung cancer 11 | 4,740
primitive neuroectodermal tumor 11 | 3,035
Epilepsy 10 | 792
Seizures 10 | 596
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
non-small cell lung cancer 9 | 2,890
Failure to gain weight 8 | 365
Pediatric failure to thrive 8 | 365
adult high grade glioma 8 | 3,801
atypical teratoid / rhabdoid tumor 8 | 5,112
pancreatic ductal adenocarcinoma liver metastasis 8 | 1,962
Cerebellar Ataxia 7 | 304
Nystagmus 7 | 317
Small head 7 | 374
Strabismus 7 | 270
invasive ductal carcinoma 7 | 2,951
lung adenocarcinoma 7 | 2,716
Blepharoptosis 6 | 231
Breast cancer 6 | 3,578
Feeding difficulties in infancy 6 | 175
Growth delay 6 | 114
Growth failure 6 | 114
Growth retardation 6 | 115
Leigh disease 6 | 100
Muscle Spasticity 6 | 195
Poor growth 6 | 114
Sensorineural Hearing Loss (disorder) 6 | 284
Stomach Neoplasms 6 | 300
Very poor growth 6 | 114
colon cancer 6 | 1,478
Acidosis, Lactic 5 | 97
Cerebral atrophy 5 | 178
Deafness 5 | 198
Decreased tendon reflex 5 | 122
Diabetes mellitus type 2 5 | 69
Highly variable clinical phenotype 5 | 150
Highly variable phenotype and severity 5 | 150
Highly variable phenotype, even within families 5 | 150
Lactic acidemia 5 | 95
Mitochondrial complex I deficiency 5 | 46
NADH:Q(1) Oxidoreductase deficiency 5 | 24
Phenotypic variability 5 | 150
Respiratory Failure 5 | 104
Treatment Refractory Type 2 Diabetes Mellitus 5 | 53
aldosterone-producing adenoma 5 | 665
breast carcinoma 5 | 1,638
ependymoma 5 | 4,679
intraductal papillary-mucinous carcinoma (IPMC) 5 | 2,989
non primary Sjogren syndrome sicca 5 | 891
Anemia 4 | 365
Atrophy of cerebellum 4 | 103
Big calvaria 4 | 147
Cerebellar degeneration 4 | 103
Congenital deafness 4 | 185
Developmental regression 4 | 95
Hearing Loss, Partial 4 | 185
Hyperreflexia 4 | 209
Hypoglycemia 4 | 152
Impaired exercise tolerance 4 | 42
Increased head circumference 4 | 147
Increased size of cranium 4 | 147
Increased size of skull 4 | 147
Infratentorial atrophy 4 | 103
Kidney cancer 4 | 2,613
Loss of developmental milestones 4 | 95
Mental deterioration in childhood 4 | 95
Multiple myeloma 4 | 1,332
Neurodevelopmental regression 4 | 95
Optic Atrophy 4 | 242
Psychomotor regression 4 | 95
Psychomotor regression beginning in infancy 4 | 95
Psychomotor regression in infants 4 | 95
Psychomotor regression, progressive 4 | 95
Schizophrenia 4 | 1,160
Short stature 4 | 531
Vomiting 4 | 116
adrenocortical carcinoma 4 | 1,428
ductal carcinoma in situ 4 | 1,745
hearing impairment 4 | 199
intraductal papillary-mucinous neoplasm (IPMN) 4 | 3,291
nasopharyngeal carcinoma 4 | 1,058

Tissue

Blood and immune system 35 | 16,909
Cardiovascular System 35 | 15,192
Digestive Tract 35 | 17,369
Endocrine System 35 | 18,159
Female tissues 35 | 17,400
Liver and Pancreas 35 | 16,750
Male tissues 35 | 17,142
Nervous System 35 | 16,725
Respiratory system 35 | 16,393
Skin and soft tissues 35 | 17,230
Urinary Tract 35 | 16,678

Target Family

Enzyme 27 | 4,145
Non-IDG 9 | 12,091

UniProt Keyword

4Fe-4S 36 | 36
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 
Cytosolic Fe-S cluster assembly factor NUBP2 NUBP2 Tbio Non-IDG -1.46950 32.1 59
Aconitate hydratase, mitochondrial ACO2 Tbio Enzyme -2.21106 157.2 307
Endonuclease III-like protein 1 NTHL1 Tbio Enzyme -1.85066 66.8 155
S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1 Tbio Enzyme -1.13540 12.8 55
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
Iron-responsive element-binding protein 2 IREB2 Tbio Non-IDG -2.33609 211.7 253
Regulator of telomere elongation helicase 1 RTEL1 Tbio Enzyme -2.66156 233.0 85
Fanconi anemia group J protein BRIP1 Tbio Non-IDG -1.81875 78.3 223