Development Level

Tbio 5 | 11,445

IMPC Phenotype

abnormal retinal blood vessel ... 1 | 26
abnormal retinal vasculature m... 1 | 27
preweaning lethality, complete... 1 | 979

Disease

Amino acid metabolic disorder 5 | 5
Autosomal recessive predisposition 4 | 1,442
Big calvaria 4 | 147
Congenital anomaly of face 4 | 56
Distortion of face 4 | 46
Dysmorphic facies 4 | 46
Funny looking face 4 | 46
Glutaric acidemia 4 | 4
Glutaric aciduria 4 | 5
Hepatomegaly 4 | 285
Hypoglycemia 4 | 152
Increased head circumference 4 | 147
Increased size of cranium 4 | 147
Increased size of skull 4 | 147
Muscle hypotonia 4 | 571
Vomiting 4 | 116
facial deformity 4 | 46
osteosarcoma 4 | 7,950
pancreatic ductal adenocarcinoma liver metastasis 4 | 1,962
Auricular malformation 3 | 41
Carcinoma 3 | 11,493
Concave bridge of nose 3 | 195
Congenital Bilateral Cataracts 3 | 50
Congenital cataract 3 | 50
Congenital hypoplasia of lung 3 | 48
Defective dehydrogenation of isovaleryl CoA and butyryl CoA 3 | 3
Depressed nasal bridge 3 | 195
Depressed nasal root/bridge 3 | 195
Electron transfer flavoprotein-ubiquinone oxidoreductase defect 3 | 3
Ethylmalonic aciduria 3 | 6
Generalized aminoaciduria 3 | 9
Gliosis 3 | 56
Glycosuria 3 | 29
High forehead 3 | 102
Hypoglycemic coma 3 | 10
Icterus 3 | 82
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 3 | 3
Multiple acyl-CoA dehydrogenase deficiency 3 | 25
Muscle Weakness 3 | 170
Nausea 3 | 20
Neonatal Death 3 | 14
Pachygyria 3 | 41
Periportal hepatic necrosis 3 | 3
Polycystic Kidney - body part 3 | 18
Polycystic Kidney Diseases 3 | 20
Proximal tubulopathy 3 | 9
Renal cortical cysts 3 | 4
Respiratory distress 3 | 43
Simple ear 3 | 41
Steatohepatitis 3 | 44
Tall forehead 3 | 102
Telecanthus 3 | 62
Wide anterior fontanel 3 | 44
genital abnormal 3 | 17
invasive ductal carcinoma 3 | 2,951
ovarian cancer 3 | 8,520
reproductive system abnormality 3 | 17
Neutral lipid storage disease 2 | 12
Systemic primary carnitine deficiency disease 2 | 15
active ulcerative colitis 2 | 764
adrenocortical carcinoma 2 | 1,428
ductal carcinoma in situ 2 | 1,745
intraductal papillary-mucinous neoplasm (IPMN) 2 | 3,291
non-small cell lung cancer 2 | 2,890
pancreatic cancer 2 | 2,398
Amyotrophic lateral sclerosis 1 | 451
Bronchiolitis 1 | 18
Bulging forehead 1 | 66
Candidiasis 1 | 55
Carcinoma, Hepatocellular 1 | 228
Carnitine palmitoyltransferase II deficiency 1 | 14
Corneal dystrophy 1 | 24
Degenerative polyarthritis 1 | 115
Delayed myelination 1 | 22
Dilation of lateral ventricles 1 | 4
Dystonia 1 | 164
Dystonic disease 1 | 106
Encephalopathies 1 | 43
Extrapyramidal Disorders 1 | 29
Extrapyramidal sign 1 | 29
Gangliosidosis 1 | 20
Ichthyosis 1 | 56
Irritation - emotion 1 | 68
Ketonemia 1 | 11
Ketosis 1 | 11
Large bregma sutures 1 | 46
Large fontanelle 1 | 46
Large, late-closing fontanelle 1 | 46
Metabolic acidosis 1 | 90
Migraine Disorders 1 | 76
Muscle Rigidity 1 | 49
Muscle Spasticity 1 | 195
Myopathy 1 | 185
Organic acidemia 1 | 4
Osteoarthritis 1 | 184
Prominent forehead 1 | 66
Reye syndrome 1 | 11
Short chain acyl-CoA dehydrogenase deficiency 1 | 9
Wide bregma sutures 1 | 46
hereditary spastic paraplegia 1 | 318

Tissue

Blood and immune system 5 | 16,909
Cardiovascular System 5 | 15,192
Digestive Tract 5 | 17,369
Endocrine System 5 | 18,159
Female tissues 5 | 17,400
Liver and Pancreas 5 | 16,750
Male tissues 5 | 17,142
Nervous System 5 | 16,725
Respiratory system 5 | 16,393
Skin and soft tissues 5 | 17,230
Urinary Tract 5 | 16,678

Target Family

Enzyme 3 | 4,145
Non-IDG 2 | 12,091

UniProt Keyword

Glutaricaciduria 5 | 5
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

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