Development Level

Tbio 4 | 11,445

IMPC Phenotype

decreased circulating alkaline... 1 | 46
decreased fasted circulating g... 1 | 65
decreased total body fat amoun... 1 | 207

Disease

ovarian cancer 4 | 8,520
Autosomal recessive predisposition 3 | 1,442
3-methylglutaconic aciduria 2 | 29
Carcinoma 2 | 11,493
Cognitive delay 2 | 608
Dystonia 2 | 164
Dystonic disease 2 | 106
Global developmental delay 2 | 608
Infantile onset 2 | 238
Mental and motor retardation 2 | 608
Muscle hypotonia 2 | 571
Pick disease 2 | 1,894
ependymoma 2 | 4,679
lung cancer 2 | 4,740
pancreatic ductal adenocarcinoma liver metastasis 2 | 1,962
psoriasis 2 | 6,694
ulcerative colitis 2 | 1,819
3-Methylcrotonyl-CoA carboxylase deficiency 1 | 11
3-methylglutaconic aciduria type 1 1 | 7
Abnormal urinary amino-acid findings 1 | 38
Aminoaciduria 1 | 38
Anemia 1 | 365
Astrocytoma, Pilocytic 1 | 3,081
Athetosis 1 | 16
Barth syndrome 1 | 23
Cardiomyopathy, Dilated 1 | 83
Carnitine deficiency 1 | 6
Cerebellar Dysmetria 1 | 56
Cerebral atrophy 1 | 178
Congenital Epicanthus 1 | 177
Congenital anomaly of face 1 | 56
Degenerative brain disorder 1 | 100
Degenerative polyarthritis 1 | 115
Delayed speech and language development 1 | 112
Developmental regression 1 | 95
Disease Progression 1 | 136
Distortion of face 1 | 46
Dysarthria 1 | 192
Dysmorphic facies 1 | 46
Epilepsy 1 | 792
Failure to gain weight 1 | 365
Febrile Convulsions 1 | 14
Funny looking face 1 | 46
Hemoglobin low 1 | 124
Highly variable clinical phenotype 1 | 150
Highly variable phenotype and severity 1 | 150
Highly variable phenotype, even within families 1 | 150
Hyperreflexia 1 | 209
Impaired cognition 1 | 96
Isobutyryl-CoA dehydrogenase deficiency 1 | 1
Isovaleric acidemia 1 | 15
Kidney disease 1 | 430
Language Delay 1 | 112
Leigh disease 1 | 100
Leukoencephalopathies 1 | 29
Lipid metabolism disorder 1 | 114
Loss of developmental milestones 1 | 95
Maple syrup urine disease 1 | 24
Mental deterioration in childhood 1 | 95
Mental impairment 1 | 95
Metabolic acidosis 1 | 90
Methylmalonic acidemia 1 | 37
Motor delay 1 | 147
Multiple acyl-CoA dehydrogenase deficiency 1 | 25
Myoclonus 1 | 74
Neurodevelopmental regression 1 | 95
No development of motor milestones 1 | 147
Osteoarthritis 1 | 184
Pediatric failure to thrive 1 | 365
Phenotypic variability 1 | 150
Propionic acidemia 1 | 16
Psychomotor regression 1 | 95
Psychomotor regression beginning in infancy 1 | 95
Psychomotor regression in infants 1 | 95
Psychomotor regression, progressive 1 | 95
Pyruvate decarboxylase deficiency 1 | 16
Seizures 1 | 596
Spastic Quadriplegia 1 | 42
Speech Delay 1 | 112
Speech impairment 1 | 112
Stomach Neoplasms 1 | 300
Strabismus 1 | 270
Supratentorial atrophy 1 | 94
Tetralogy of Fallot 1 | 63
Tracheomalacia 1 | 22
Urinary Incontinence 1 | 50
acute myeloid leukemia 1 | 783
adrenocortical carcinoma 1 | 1,428
adult high grade glioma 1 | 3,801
beta-ketothiolase deficiency 1 | 13
cystic fibrosis 1 | 1,696
diabetes mellitus 1 | 1,728
facial deformity 1 | 46
gastric carcinoma 1 | 807
lung adenocarcinoma 1 | 2,716
oligodendroglioma 1 | 2,850
pancreatic cancer 1 | 2,398
pancreatic carcinoma 1 | 562
tuberculosis 1 | 2,010
urothelial carcinoma 1 | 318

Tissue

Blood and immune system 4 | 16,909
Cardiovascular System 4 | 15,192
Digestive Tract 4 | 17,369
Endocrine System 4 | 18,159
Female tissues 4 | 17,400
Liver and Pancreas 4 | 16,750
Male tissues 4 | 17,142
Nervous System 4 | 16,725
Respiratory system 4 | 16,393
Skin and soft tissues 4 | 17,230
Urinary Tract 4 | 16,678

Target Family

Enzyme 4 | 4,145

UniProt Keyword

Branched-chain amino acid cata... 4 | 4
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 
Isobutyryl-CoA dehydrogenase, mitochondrial ACAD8 Tbio Enzyme -1.14784 13.9 150
Methylglutaconyl-CoA hydratase, mitochondrial AUH Tbio Enzyme -2.00569 102.5 99
3-hydroxyisobutyrate dehydrogenase, mitochondrial HIBADH Tbio Enzyme -1.15127 13.1 212
3-hydroxyisobutyryl-CoA hydrolase, mitochondrial HIBCH Tbio Enzyme -1.25311 16.5 156