Development Level

Tbio 35 | 11,445
Tchem 5 | 1,598
Tdark 3 | 6,588

IMPC Phenotype

preweaning lethality, complete... 13 | 979
embryonic lethality prior to o... 8 | 239
embryonic lethality prior to t... 5 | 278
abnormal embryo size 3 | 220
abnormal neural tube closure 2 | 46
embryonic growth retardation 2 | 106
enlarged lymph nodes 2 | 37
abnormal behavioral response t... 1 | 66
abnormal bone mineralization 1 | 38
abnormal coat-hair pigmentatio... 1 | 64
abnormal embryo turning 1 | 31
abnormal forebrain morphology 1 | 10
abnormal heart morphology 1 | 162
abnormal iris morphology 1 | 13
abnormal seminal vesicle morph... 1 | 114
abnormal tail bud morphology 1 | 8
bleb 1 | 2
convulsive seizures 1 | 13
decreased basophil cell number 1 | 16
decreased body weight 1 | 161
decreased bone mineral content 1 | 151
decreased bone mineral density 1 | 126
decreased circulating alkaline... 1 | 46
decreased circulating aspartat... 1 | 34
decreased circulating creatini... 1 | 39
decreased eosinophil cell numb... 1 | 24
decreased erythrocyte cell num... 1 | 62
decreased fasted circulating g... 1 | 65
decreased lactate dehydrogenas... 1 | 16
decreased lean body mass 1 | 135
decreased lymphocyte cell numb... 1 | 83
decreased startle reflex 1 | 75
enlarged heart 1 | 210
impaired glucose tolerance 1 | 75
increased anti-nuclear antigen... 1 | 19
increased circulating aspartat... 1 | 15
increased circulating bilirubi... 1 | 16
increased circulating chloride... 1 | 41
increased circulating potassiu... 1 | 29
increased circulating sodium l... 1 | 71
increased circulating triglyce... 1 | 42
increased hemoglobin content 1 | 45
increased leukocyte cell numbe... 1 | 47
increased mean corpuscular hem... 1 | 96
increased mean corpuscular vol... 1 | 92
increased neutrophil cell numb... 1 | 46
increased prepulse inhibition 1 | 32
increased red blood cell distr... 1 | 34
increased total body fat amoun... 1 | 134
long tibia 1 | 25
prenatal lethality prior to he... 1 | 87
preweaning lethality, incomple... 1 | 499
small adrenal glands 1 | 16
small spleen 1 | 19

Disease

Congenital disorder of glycosylation 43 | 54
ovarian cancer 28 | 8,520
Carcinoma 23 | 11,493
Autosomal recessive predisposition 20 | 1,442
Muscle hypotonia 16 | 571
osteosarcoma 16 | 7,950
Epilepsy 15 | 792
psoriasis 15 | 6,694
Cognitive delay 14 | 608
Global developmental delay 14 | 608
Mental and motor retardation 14 | 608
Seizures 14 | 596
glioblastoma 13 | 5,792
lung cancer 11 | 4,740
medulloblastoma, large-cell 11 | 6,241
Failure to gain weight 10 | 365
Isoelectric focusing of serum transferrin consistent with CDG type I 10 | 10
Pediatric failure to thrive 10 | 365
Small head 10 | 374
pancreatic ductal adenocarcinoma liver metastasis 10 | 1,962
Breast cancer 9 | 3,578
Multiple myeloma 9 | 1,332
intraductal papillary-mucinous neoplasm (IPMN) 8 | 3,291
malignant mesothelioma 8 | 3,232
Intellectual disability 7 | 1,016
Strabismus 7 | 270
lung adenocarcinoma 7 | 2,716
Cerebellar Ataxia 6 | 304
Cerebral atrophy 6 | 178
Liver Dysfunction 6 | 99
atypical teratoid / rhabdoid tumor 6 | 5,112
ependymoma 6 | 4,679
intraductal papillary-mucinous adenoma (IPMA) 6 | 2,955
non-small cell lung cancer 6 | 2,890
tuberculosis 6 | 2,010
Antithrombin III deficiency 5 | 14
Infantile onset 5 | 238
Nystagmus 5 | 317
Prenatal onset 5 | 139
diabetes mellitus 5 | 1,728
group 3 medulloblastoma 5 | 4,104
intraductal papillary-mucinous carcinoma (IPMC) 5 | 2,989
invasive ductal carcinoma 5 | 2,951
pancreatic cancer 5 | 2,398
Creatine phosphokinase serum increased 4 | 110
Degenerative brain disorder 4 | 100
Diarrhea 4 | 253
Dull intelligence 4 | 645
Elevated creatine kinase 4 | 110
Elevated hepatic transaminases 4 | 81
Factor XI Deficiency 4 | 12
Hepatic enzyme increased 4 | 81
Hepatomegaly 4 | 285
Hypoplastic mandible condyle 4 | 275
Large auricle 4 | 87
Large dysplastic ears 4 | 87
Large pinnae 4 | 87
Large prominent ears 4 | 87
Large protruding ears 4 | 87
Large, floppy ears 4 | 87
Liver enzymes abnormal 4 | 81
Liver function test increased 4 | 81
Liver function tests abnormal finding 4 | 81
Low intelligence 4 | 645
Macrotia 4 | 87
Mandibular hypoplasia 4 | 275
Mental Retardation 4 | 645
Mental deficiency 4 | 645
Micrognathism 4 | 275
Optic Atrophy 4 | 242
Poor school performance 4 | 645
Postnatal microcephaly 4 | 24
Subclinical abnormal liver function tests 4 | 81
Supratentorial atrophy 4 | 94
Transaminases increased 4 | 81
Vomiting 4 | 116
Waldenstrons macroglobulinemia 4 | 765
active Crohn's disease 4 | 922
cystic fibrosis 4 | 1,696
group 4 medulloblastoma 4 | 1,855
non primary Sjogren syndrome sicca 4 | 891
protein-losing enteropathy 4 | 12
Astrocytoma, Pilocytic 3 | 3,081
Atrophy of cerebellum 3 | 103
Cerebellar degeneration 3 | 103
Concave bridge of nose 3 | 195
Congenital muscular dystrophy 3 | 29
Depressed nasal bridge 3 | 195
Depressed nasal root/bridge 3 | 195
Feeding difficulties 3 | 127
Infratentorial atrophy 3 | 103
Microcephaly 3 | 166
adult high grade glioma 3 | 3,801
astrocytoma 3 | 1,146
ductal carcinoma in situ 3 | 1,745
interstitial cystitis 3 | 2,312
juvenile dermatomyositis 3 | 1,187
lung carcinoma 3 | 2,843
pancreatic carcinoma 3 | 562
pediatric high grade glioma 3 | 1,064

Tissue

Blood and immune system 43 | 16,909
Cardiovascular System 43 | 15,192
Digestive Tract 43 | 17,369
Endocrine System 43 | 18,159
Female tissues 43 | 17,400
Liver and Pancreas 43 | 16,750
Male tissues 43 | 17,142
Nervous System 43 | 16,725
Respiratory system 43 | 16,393
Skin and soft tissues 43 | 17,230
Urinary Tract 43 | 16,678

Target Family

Enzyme 24 | 4,145
Non-IDG 15 | 12,091
Transporter 4 | 473

UniProt Keyword

Congenital disorder of glycosy... 43 | 43
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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