Development Level

Tbio 59 | 11,445
Tdark 19 | 6,588
Tchem 6 | 1,598

IMPC Phenotype

preweaning lethality, complete... 8 | 979
embryonic lethality prior to o... 5 | 239
embryonic lethality prior to t... 5 | 278
hypoactivity 2 | 132
male infertility 2 | 123
preweaning lethality, incomple... 2 | 499
abnormal cornea morphology 1 | 31
abnormal cranium morphology 1 | 36
abnormal eye morphology 1 | 68
abnormal eye size 1 | 7
abnormal placement of pupils 1 | 6
abnormal seminal vesicle morph... 1 | 114
abnormal spleen morphology 1 | 55
abnormal vocalization 1 | 21
anophthalmia 1 | 33
corneal opacity 1 | 32
decreased body weight 1 | 161
decreased bone mineral content 1 | 151
decreased bone mineral density 1 | 126
decreased circulating HDL chol... 1 | 68
decreased circulating alanine ... 1 | 47
decreased circulating glucose ... 1 | 126
decreased fluid intake 1 | 3
decreased food intake 1 | 13
decreased lean body mass 1 | 135
decreased lymphocyte cell numb... 1 | 83
female infertility 1 | 60
increased body length 1 | 32
increased body weight 1 | 25
increased bone mineral density 1 | 72
increased heart weight 1 | 62
increased hemoglobin content 1 | 45
increased mean corpuscular vol... 1 | 92
increased neutrophil cell numb... 1 | 46
increased total body fat amoun... 1 | 134
pale yolk sac 1 | 25
small testis 1 | 58
tremors 1 | 39

Disease

Carcinoma 47 | 11,493
ovarian cancer 44 | 8,520
osteosarcoma 43 | 7,950
group 3 medulloblastoma 29 | 4,104
medulloblastoma, large-cell 27 | 6,241
Cancer 25 | 2,499
Breast cancer 24 | 3,578
lung cancer 24 | 4,740
psoriasis 23 | 6,694
atypical teratoid / rhabdoid tumor 21 | 5,112
glioblastoma 21 | 5,792
malignant mesothelioma 20 | 3,232
primitive neuroectodermal tumor 18 | 3,035
intraductal papillary-mucinous neoplasm (IPMN) 16 | 3,291
Kidney cancer 14 | 2,613
ependymoma 14 | 4,679
lung adenocarcinoma 14 | 2,716
non-small cell lung cancer 13 | 2,890
Fanconi anemia 12 | 56
adult high grade glioma 12 | 3,801
intraductal papillary-mucinous carcinoma (IPMC) 11 | 2,989
oligodendroglioma 11 | 2,850
Intellectual disability 10 | 1,016
Xeroderma pigmentosum 10 | 43
astrocytic glioma 10 | 2,597
invasive ductal carcinoma 10 | 2,951
Breast Neoplasms 9 | 445
Mammary Neoplasms 9 | 425
Ataxia telangiectasia 8 | 34
Bloom syndrome 8 | 29
Chromosome Breakage 8 | 36
Severe combined immunodeficiency 8 | 51
Waldenstrons macroglobulinemia 8 | 765
adrenocortical carcinoma 8 | 1,428
colon cancer 8 | 1,478
diabetes mellitus 8 | 1,728
intraductal papillary-mucinous adenoma (IPMA) 8 | 2,955
Anemia 7 | 365
Autosomal recessive predisposition 7 | 1,442
Multiple myeloma 7 | 1,332
Pick disease 7 | 1,894
Small head 7 | 374
breast carcinoma 7 | 1,638
pancreatic ductal adenocarcinoma liver metastasis 7 | 1,962
Cognitive delay 6 | 608
Decreased platelet count 6 | 111
Dull intelligence 6 | 645
Global developmental delay 6 | 608
Hereditary Breast and Ovarian Cancer Syndrome 6 | 14
Increased chromosomal breakage 6 | 27
Low intelligence 6 | 645
Mental Retardation 6 | 645
Mental and motor retardation 6 | 608
Mental deficiency 6 | 645
Nijmegen breakage syndrome 6 | 24
Poor school performance 6 | 645
Rheumatoid arthritis 6 | 1,191
Short stature 6 | 531
Thrombocytopenia 6 | 197
Werner syndrome 6 | 29
Xeroderma pigmentosum group F 6 | 22
acute myeloid leukemia 6 | 783
acute quadriplegic myopathy 6 | 1,158
nasopharyngeal carcinoma 6 | 1,058
pancreatic cancer 6 | 2,398
Alzheimer's disease 5 | 658
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 5 | 9
DNA ligase IV deficiency 5 | 7
Malignant neoplasm of breast 5 | 15
Prostatic Neoplasms 5 | 495
Schizophrenia 5 | 1,160
astrocytoma 5 | 1,146
ductal carcinoma in situ 5 | 1,745
progressive supranuclear palsy 5 | 676
Acquired scoliosis 4 | 281
Adenocarcinoma of lung 4 | 142
Almond-shaped eyes 4 | 23
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 4 | 13
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 4 | 8
Breast Cancer, Familial 4 | 8
Cryptorchidism 4 | 296
Curvature of spine 4 | 282
Disease Models, Animal 4 | 155
Endometriosis 4 | 540
Esophageal atresia with or without tracheoesophageal fistula 4 | 21
Fever 4 | 138
Irregular hyperpigmentation 4 | 33
Leukopenia 4 | 72
Omenn syndrome 4 | 13
Ovarian Neoplasms 4 | 102
Pyridoxine-responsive sideroblastic anemia 4 | 17
Radial aplasia/hypoplasia 4 | 29
Short palpebral fissure 4 | 38
dermatomyositis 4 | 966
esophageal atresia/tracheoesophageal fistula 4 | 22
hypopigmented skin patch 4 | 59
juvenile dermatomyositis 4 | 1,187
non primary Sjogren syndrome sicca 4 | 891
ovarian neoplasm 4 | 99
primary Sjogren syndrome 4 | 735

Tissue

Endocrine System 75 | 18,159
Digestive Tract 74 | 17,369
Male tissues 74 | 17,142
Female tissues 73 | 17,400
Skin and soft tissues 73 | 17,230
Urinary Tract 73 | 16,678
Blood and immune system 72 | 16,909
Cardiovascular System 72 | 15,192
Liver and Pancreas 72 | 16,750
Nervous System 72 | 16,725
Respiratory system 72 | 16,393

Target Family

Non-IDG 52 | 12,091
Enzyme 25 | 4,145
Transcription Factor 4 | 1,400
Epigenetic 2 | 242
Kinase 1 | 634

UniProt Keyword

DNA recombination 84 | 84
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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