Development Level

Tbio 71 | 11,651
Tdark 17 | 6,593
Tchem 2 | 1,388

IMPC Phenotype

preweaning lethality, complete... 12 | 979
embryonic lethality prior to o... 6 | 239
embryonic lethality prior to t... 4 | 278
preweaning lethality, incomple... 4 | 499
decreased body length 2 | 101
increased circulating chloride... 2 | 41
increased startle reflex 2 | 112
abnormal behavior 1 | 298
abnormal coat-hair pigmentatio... 1 | 64
abnormal eye posterior chamber... 1 | 1
abnormal heart left ventricle ... 1 | 16
abnormal heart morphology 1 | 162
abnormal lens morphology 1 | 81
cataract 1 | 92
decreased body weight 1 | 161
decreased circulating HDL chol... 1 | 68
decreased circulating alanine ... 1 | 47
decreased circulating aspartat... 1 | 34
decreased circulating chloride... 1 | 30
decreased circulating choleste... 1 | 93
decreased circulating fructosa... 1 | 30
decreased circulating insulin ... 1 | 76
decreased circulating serum al... 1 | 82
decreased circulating sodium l... 1 | 22
decreased circulating total pr... 1 | 49
decreased circulating triglyce... 1 | 79
decreased coping response 1 | 8
decreased lean body mass 1 | 135
decreased lumbar vertebrae num... 1 | 2
decreased total body fat amoun... 1 | 207
enlarged heart 1 | 210
hyperactivity 1 | 148
increased body length 1 | 32
increased circulating sodium l... 1 | 71
increased circulating triglyce... 1 | 42
increased mean corpuscular vol... 1 | 92
increased mean platelet volume 1 | 45
prenatal lethality prior to he... 1 | 87

Disease

ovarian cancer 51 | 8,520
Carcinoma 49 | 11,493
osteosarcoma 40 | 7,950
lung cancer 33 | 4,740
group 3 medulloblastoma 29 | 4,104
medulloblastoma, large-cell 28 | 6,241
psoriasis 27 | 6,694
Multiple myeloma 19 | 1,332
glioblastoma 19 | 5,792
malignant mesothelioma 16 | 3,232
colon cancer 13 | 1,478
Waldenstrons macroglobulinemia 11 | 765
acute quadriplegic myopathy 11 | 1,158
atypical teratoid / rhabdoid tumor 11 | 5,112
ependymoma 11 | 4,679
adult high grade glioma 10 | 3,801
diabetes mellitus 10 | 1,728
invasive ductal carcinoma 10 | 2,951
Kidney cancer 9 | 2,613
non primary Sjogren syndrome sicca 9 | 891
Cancer 8 | 2,499
non-small cell lung cancer 8 | 2,890
primitive neuroectodermal tumor 8 | 3,035
subependymal giant cell astrocytoma 8 | 2,287
Astrocytoma, Pilocytic 7 | 3,081
Breast cancer 7 | 3,578
Intellectual disability 7 | 1,016
pediatric high grade glioma 7 | 1,064
Autosomal recessive predisposition 6 | 1,442
Bowen-Conradi syndrome 6 | 16
Cognitive delay 6 | 608
Global developmental delay 6 | 608
Mental and motor retardation 6 | 608
dermatomyositis 6 | 966
Dull intelligence 5 | 645
Dyskeratosis congenita 5 | 24
Low intelligence 5 | 645
Mental Retardation 5 | 645
Mental deficiency 5 | 645
Poor school performance 5 | 645
Rheumatoid arthritis 5 | 1,191
Short stature 5 | 531
Stomach Neoplasms 5 | 300
astrocytic glioma 5 | 2,597
astrocytoma 5 | 1,146
intraductal papillary-mucinous adenoma (IPMA) 5 | 2,955
intraductal papillary-mucinous neoplasm (IPMN) 5 | 3,291
lung adenocarcinoma 5 | 2,716
oligodendroglioma 5 | 2,850
pancreatic cancer 5 | 2,398
Abnormality of female internal genitalia 4 | 13
Disease Progression 4 | 136
Feeding difficulties 4 | 127
Liver Cirrhosis 4 | 181
Osteoporosis 4 | 363
Pontocerebellar hypoplasia 4 | 36
Small head 4 | 374
Systemic scleroderma 4 | 60
Tracheoesophageal Fistula 4 | 36
adrenocortical carcinoma 4 | 1,428
group 4 medulloblastoma 4 | 1,855
juvenile dermatomyositis 4 | 1,187
pituitary cancer 4 | 1,972
Anemia 3 | 365
Blood Coagulation Disorders 3 | 42
Breast Neoplasms 3 | 445
Cellular immunodeficiency 3 | 17
Cerebral atrophy 3 | 178
Coagulation abnormalities 3 | 27
Decreased platelet count 3 | 111
Dystrophia unguium 3 | 53
Failure to gain weight 3 | 365
Frequent fractures 3 | 53
Hemoglobin low 3 | 124
Hemorrhagic Disorders 3 | 30
Highly variable clinical phenotype 3 | 150
Highly variable phenotype and severity 3 | 150
Highly variable phenotype, even within families 3 | 150
Hyperhidrosis disorder 3 | 81
Increased fracture rate 3 | 53
Increased sweating 3 | 81
Malabsorption 3 | 82
Mammary Neoplasms 3 | 425
Neutrophil abnormality 3 | 20
Pancytopenia 3 | 45
Pediatric failure to thrive 3 | 365
Phenotypic variability 3 | 150
Pick disease 3 | 1,894
Recurrent respiratory infections 3 | 141
Skin bulla 3 | 54
Sparse hair 3 | 59
Strabismus 3 | 270
Sweating 3 | 81
Thin, sparse hair 3 | 59
Thrombocytopenia 3 | 197
Varying degree of multiple fractures 3 | 53
Vascular disease 3 | 319
active Crohn's disease 3 | 922
gastric carcinoma 3 | 807
pancreatic ductal adenocarcinoma liver metastasis 3 | 1,962

Tissue

Digestive Tract 90 | 17,369
Endocrine System 90 | 18,159
Female tissues 90 | 17,400
Liver and Pancreas 90 | 16,750
Male tissues 90 | 17,142
Nervous System 90 | 16,725
Respiratory system 90 | 16,393
Skin and soft tissues 90 | 17,230
Urinary Tract 90 | 16,678
Blood and immune system 89 | 16,909
Cardiovascular System 89 | 15,192

Target Family

Non-IDG 52 | 12,091
Enzyme 35 | 4,145
Epigenetic 3 | 242

UniProt Keyword

rRNA processing 90 | 90
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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