Development Level

Tbio 12 | 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 behavior 12 | 52
Abnormal skeletal development 12 | 60
Abnormality of metabolism/homeostasis 12 | 134
Abnormality of retinal pigmentation 12 | 111
Abnormality of the liver 12 | 21
Abnormality of the palate 12 | 17
Addison Disease 12 | 18
Adrenal cortical hypofunction 12 | 23
Adrenoleukodystrophy, Neonatal 12 | 13
Anteverted nostril 12 | 191
Big calvaria 12 | 147
Bilateral single transverse palmar creases 12 | 34
Blepharoptosis 12 | 231
Broad flat nasal bridge 12 | 236
Byzanthine arch palate 12 | 194
Clouding of corneal stroma 12 | 50
Concave bridge of nose 12 | 195
Congenital Epicanthus 12 | 177
Corneal Opacity 12 | 53
Death in early childhood 12 | 82
Death in infancy 12 | 82
Decreased to absent deep tendon reflexes 12 | 42
Depressed nasal bridge 12 | 195
Depressed nasal root/bridge 12 | 195
Developmental regression 12 | 95
Difficulties with night vision 12 | 87
Electroencephalogram abnormal 12 | 101
Elevated levels of phytanic acid 12 | 15
Embryotoxon 12 | 28
Failure to gain weight 12 | 365
Flat back of the head 12 | 26
Flat face 12 | 52
Flat occiput 12 | 26
Global developmental delay, severe 12 | 47
Hepatomegaly 12 | 285
High forehead 12 | 102
Hydronephrosis 12 | 89
Hyperreflexia 12 | 209
Hypertrophy of clitoris 12 | 40
Hypotonia, severe 12 | 33
Icterus 12 | 82
Impaired cognition 12 | 96
Increased head circumference 12 | 147
Increased size of cranium 12 | 147
Increased size of skull 12 | 147
Infantile Refsum Disease (disorder) 12 | 13
Infantile Refsum disease 12 | 23
Liver Failure 12 | 73
Liver diseases 12 | 87
Long narrow head 12 | 75
Loss of developmental milestones 12 | 95
Low Vision 12 | 174
Malabsorption 12 | 82
Malformations of Cortical Development, Group II 12 | 31
Malformed pinnae 12 | 37
Mental deterioration in childhood 12 | 95
Mental impairment 12 | 95
Movement Disorders 12 | 55
Muscle Spasticity 12 | 195
Muscle weakness, progressive 12 | 22
Narrow cranium shape 12 | 75
Narrow head shape 12 | 75
Narrow skull shape 12 | 75
Nasal bridge wide 12 | 236
Neonatal adrenoleukodystrophy 12 | 14
Neurodevelopmental regression 12 | 95
Night Blindness 12 | 101
Osteochondrodysplasias 12 | 72
Pediatric failure to thrive 12 | 365
Penile hypospadias 12 | 106
Peroxisomal disease 12 | 22
Polymicrogyria 12 | 48
Posterior embryotoxon 12 | 28
Premature Birth 12 | 77
Premature birth of newborn 12 | 67
Profound global developmental delay 12 | 17
Psychomotor regression 12 | 95
Psychomotor regression beginning in infancy 12 | 95
Psychomotor regression in infants 12 | 95
Psychomotor regression, progressive 12 | 95
Psychomotor retardation, profound 12 | 17
Pyloric Stenosis 12 | 47
Respiratory Insufficiency 12 | 132
Respiratory function loss 12 | 121
Retinal pigment epithelial abnormality 12 | 111
Seizures 12 | 596
Sensorineural Hearing Loss (disorder) 12 | 284
Severe psychomotor retardation 12 | 47
Stippled epiphyses 12 | 28
Strabismus 12 | 270
Tall forehead 12 | 102
Turridolichocephaly 12 | 75
Underdeveloped brows 12 | 38
Underdeveloped supraorbital ridges 12 | 38
Upward slant of palpebral fissure 12 | 75
Very long chain fatty acid accumulation 12 | 13
Visual Impairment 12 | 174
Visual field constriction 12 | 36
Wide anterior fontanel 12 | 44
Zellweger syndrome 12 | 37

Tissue

Blood and immune system 12 | 16,909
Cardiovascular System 12 | 15,192
Digestive Tract 12 | 17,369
Endocrine System 12 | 18,159
Female tissues 12 | 17,400
Liver and Pancreas 12 | 16,750
Male tissues 12 | 17,142
Nervous System 12 | 16,725
Respiratory system 12 | 16,393
Skin and soft tissues 12 | 17,230
Urinary Tract 12 | 16,678

Target Family

Non-IDG 10 | 12,091
Enzyme 2 | 4,145

UniProt Keyword

Zellweger syndrome 12 | 12
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 biogenesis factor 19 PEX19 Tbio Non-IDG -2.28877 200.1 264
Peroxisomal membrane protein PEX13 PEX13 Tbio Non-IDG -1.58768 38.1 68