Development Level

Tbio 15 | 11,445

IMPC Phenotype

abnormal cornea morphology 1 | 31
abnormal eye morphology 1 | 68
abnormal eye size 1 | 7
abnormal tail morphology 1 | 25
decreased body weight 1 | 161
decreased caudal vertebrae num... 1 | 53
decreased circulating HDL chol... 1 | 68
decreased circulating LDL chol... 1 | 38
decreased circulating alanine ... 1 | 47
decreased circulating aspartat... 1 | 34
decreased circulating choleste... 1 | 93
decreased circulating fructosa... 1 | 30
decreased circulating serum al... 1 | 82
decreased circulating total pr... 1 | 49
decreased total body fat amoun... 1 | 207
enlarged spleen 1 | 41
increased bone mineral density 1 | 72
increased circulating fructosa... 1 | 13
increased mean corpuscular hem... 1 | 96
male infertility 1 | 123
preweaning lethality, complete... 1 | 979

Disease

Abnormal skeletal development 15 | 60
Abnormality of metabolism/homeostasis 15 | 134
Abnormality of retinal pigmentation 15 | 111
Blepharoptosis 15 | 231
Cataract 15 | 297
Cerebellar Ataxia 15 | 304
Developmental regression 15 | 95
Difficulties with night vision 15 | 87
Elevated levels of phytanic acid 15 | 15
Infantile Refsum disease 15 | 23
Lens Opacities 15 | 231
Loss of developmental milestones 15 | 95
Low Vision 15 | 174
Mental deterioration in childhood 15 | 95
Muscle hypotonia 15 | 571
Neurodevelopmental regression 15 | 95
Night Blindness 15 | 101
Nystagmus 15 | 317
Osteochondrodysplasias 15 | 72
Peroxisomal disease 15 | 22
Psychomotor regression 15 | 95
Psychomotor regression beginning in infancy 15 | 95
Psychomotor regression in infants 15 | 95
Psychomotor regression, progressive 15 | 95
Retinal pigment epithelial abnormality 15 | 111
Retinitis Pigmentosa 15 | 226
Sensorineural Hearing Loss (disorder) 15 | 284
Visual Impairment 15 | 174
Zellweger syndrome 15 | 37
Concave bridge of nose 14 | 195
Depressed nasal bridge 14 | 195
Depressed nasal root/bridge 14 | 195
Epilepsy 14 | 792
Flat face 14 | 52
Hypoplastic mandible condyle 14 | 275
Mandibular hypoplasia 14 | 275
Micrognathism 14 | 275
Muscle Spasticity 14 | 195
Respiratory Insufficiency 14 | 132
Respiratory function loss 14 | 121
Seizures 14 | 596
Small head 14 | 374
Stippled epiphyses 14 | 28
Upward slant of palpebral fissure 14 | 75
Abnormal behavior 13 | 52
Abnormality of the liver 13 | 21
Addison Disease 13 | 18
Adrenal cortical hypofunction 13 | 23
Adrenoleukodystrophy, Neonatal 13 | 13
Anteverted nostril 13 | 191
Bilateral single transverse palmar creases 13 | 34
Broad flat nasal bridge 13 | 236
Byzanthine arch palate 13 | 194
Clouding of corneal stroma 13 | 50
Congenital Epicanthus 13 | 177
Corneal Opacity 13 | 53
Death in early childhood 13 | 82
Death in infancy 13 | 82
Decreased to absent deep tendon reflexes 13 | 42
Electroencephalogram abnormal 13 | 101
Embryotoxon 13 | 28
Failure to gain weight 13 | 365
Flat occiput 13 | 26
Global developmental delay, severe 13 | 47
Hepatomegaly 13 | 285
High forehead 13 | 102
Hydronephrosis 13 | 89
Hyperreflexia 13 | 209
Hypertrophy of clitoris 13 | 40
Hypotonia, severe 13 | 33
Icterus 13 | 82
Impaired cognition 13 | 96
Infantile Refsum Disease (disorder) 13 | 13
Liver Failure 13 | 73
Liver diseases 13 | 87
Long narrow head 13 | 75
Malabsorption 13 | 82
Malformations of Cortical Development, Group II 13 | 31
Malformed pinnae 13 | 37
Mental impairment 13 | 95
Movement Disorders 13 | 55
Muscle weakness, progressive 13 | 22
Nasal bridge wide 13 | 236
Pediatric failure to thrive 13 | 365
Penile hypospadias 13 | 106
Polymicrogyria 13 | 48
Posterior embryotoxon 13 | 28
Premature Birth 13 | 77
Premature birth of newborn 13 | 67
Profound global developmental delay 13 | 17
Psychomotor retardation, profound 13 | 17
Pyloric Stenosis 13 | 47
Severe psychomotor retardation 13 | 47
Strabismus 13 | 270
Tall forehead 13 | 102
Underdeveloped brows 13 | 38
Underdeveloped supraorbital ridges 13 | 38
Very long chain fatty acid accumulation 13 | 13
Visual field constriction 13 | 36
Wide anterior fontanel 13 | 44

Tissue

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

Target Family

Non-IDG 12 | 12,091
Enzyme 3 | 4,145

UniProt Keyword

Peroxisome biogenesis disorder 15 | 15
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 
Peroxisomal membrane protein PEX16 PEX16 Tbio Non-IDG -1.43594 27.8 78
Peroxisomal targeting signal 1 receptor PEX5 Tbio Non-IDG -2.43126 272.8 138
Peroxisome biogenesis factor 1 PEX1 Tbio Enzyme -0.77059 5.43 107
Peroxisome assembly factor 2 PEX6 Tbio Enzyme -1.89379 79.8 148
Peroxisome biogenesis factor 2 PEX2 Tbio Non-IDG -1.76849 57.3 170
Peroxisomal biogenesis factor 3 PEX3 Tbio Non-IDG -1.79362 72.7 79
Peroxisomal membrane protein PEX14 PEX14 Tbio Non-IDG -1.56143 37.1 205
Peroxisome assembly protein 26 PEX26 Tbio Non-IDG -1.04829 11.8 85
Peroxisomal membrane protein 11B PEX11B Tbio Non-IDG -1.00971 10.5 80
Peroxisomal biogenesis factor 19 PEX19 Tbio Non-IDG -2.28877 200.1 264