Development Level

Tbio 20 | 11,651
Tchem 2 | 1,388
Tclin 1 | 612
Tdark 1 | 6,593

IMPC Phenotype

preweaning lethality, complete... 6 | 979
embryonic lethality prior to o... 2 | 239
abnormal behavior 1 | 298
abnormal digit morphology 1 | 10
abnormal kidney morphology 1 | 65
decreased IgM level 1 | 1
decreased body weight 1 | 161
decreased bone mineral content 1 | 151
decreased circulating choleste... 1 | 93
decreased lean body mass 1 | 135
embryonic lethality prior to t... 1 | 278
increased bone mineral content 1 | 108
increased circulating alkaline... 1 | 122
increased circulating amylase ... 1 | 25
increased circulating choleste... 1 | 66
increased circulating sodium l... 1 | 71
long tibia 1 | 25

Disease

Carcinoma 20 | 11,493
ovarian cancer 18 | 8,519
pancreatic ductal adenocarcinoma liver metastasis 12 | 1,962
psoriasis 11 | 6,694
Cognitive delay 10 | 608
Global developmental delay 10 | 608
Mental and motor retardation 10 | 608
Multiple myeloma 10 | 1,332
Autosomal recessive predisposition 9 | 1,442
glioblastoma 9 | 5,792
osteosarcoma 9 | 7,950
Cerebellar Ataxia 8 | 304
Epilepsy 8 | 792
atypical teratoid / rhabdoid tumor 8 | 5,112
lung cancer 8 | 4,740
medulloblastoma, large-cell 8 | 6,241
Acidosis, Lactic 7 | 97
Breast cancer 7 | 3,577
Infantile onset 7 | 238
Muscle hypotonia 7 | 571
Seizures 7 | 596
astrocytic glioma 7 | 2,597
group 3 medulloblastoma 7 | 4,104
Chondroma 6 | 15
Dull intelligence 6 | 645
Intellectual disability 6 | 1,016
Lactic acidemia 6 | 95
Leigh disease 6 | 100
Low Vision 6 | 174
Low intelligence 6 | 645
Mental Retardation 6 | 645
Mental deficiency 6 | 645
Pick disease 6 | 1,894
Poor school performance 6 | 645
Stomach Neoplasms 6 | 300
Visual Impairment 6 | 174
Astrocytoma, Pilocytic 5 | 3,081
Blepharoptosis 5 | 231
Cerebral atrophy 5 | 178
Degenerative polyarthritis 5 | 115
Failure to gain weight 5 | 365
Multiple, subcutaneous nodules 5 | 53
Nystagmus 5 | 317
Optic Atrophy 5 | 242
Osteoarthritis 5 | 184
Papilloma 5 | 44
Paraganglioma 5 | 15
Pediatric failure to thrive 5 | 365
Persistent generalized lymphadenopathy 5 | 15
Short stature 5 | 531
Subcutaneous nodule 5 | 53
Von Hippel-Lindau disease 5 | 19
adult high grade glioma 5 | 3,801
breast carcinoma 5 | 1,637
ependymoma 5 | 4,679
intraductal papillary-mucinous adenoma (IPMA) 5 | 2,954
intraductal papillary-mucinous neoplasm (IPMN) 5 | 3,290
lung adenocarcinoma 5 | 2,716
Cancer 4 | 2,499
Degenerative brain disorder 4 | 100
Deglutition Disorders 4 | 132
Dystonia 4 | 164
Dystonic disease 4 | 106
Gastrointestinal Hemorrhage 4 | 52
Gastrointestinal Stromal Tumors 4 | 48
Gastrointestinal stromal tumor 4 | 62
Hemangioma 4 | 69
Highly variable clinical phenotype 4 | 150
Highly variable phenotype and severity 4 | 150
Highly variable phenotype, even within families 4 | 150
Hyperhidrosis disorder 4 | 81
Impaired cognition 4 | 96
Increased sweating 4 | 81
Intestinal Obstruction 4 | 31
Kidney cancer 4 | 2,613
Lactic acidosis 4 | 51
Mental impairment 4 | 95
Obesity 4 | 678
Ophthalmoplegia 4 | 106
Phaeochromocytoma 4 | 20
Phenotypic variability 4 | 150
Small head 4 | 374
Supratentorial atrophy 4 | 94
Sweating 4 | 81
Waldenstrons macroglobulinemia 4 | 765
invasive ductal carcinoma 4 | 2,950
malignant mesothelioma 4 | 3,232
oligodendroglioma 4 | 2,850
primitive neuroectodermal tumor 4 | 3,035
Adult onset 3 | 82
Constipation 3 | 181
Dyschezia 3 | 135
Increased head circumference 3 | 147
Increased size of skull 3 | 147
Macroglossia 3 | 65
Neonatal Hypotonia 3 | 64
Pyruvate decarboxylase deficiency 3 | 16
Sensorineural Hearing Loss (disorder) 3 | 284
Tachycardia 3 | 43
hereditary spastic paraplegia 3 | 318

Tissue

Endocrine System 24 | 18,159
Blood and immune system 23 | 16,909
Cardiovascular System 23 | 15,192
Digestive Tract 23 | 17,369
Female tissues 23 | 17,400
Liver and Pancreas 23 | 16,750
Male tissues 23 | 17,142
Nervous System 23 | 16,725
Respiratory system 23 | 16,393
Skin and soft tissues 23 | 17,230
Urinary Tract 23 | 16,678

Target Family

Enzyme 24 | 4,145

UniProt Keyword

Tricarboxylic acid cycle 24 | 24
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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