Development Level

Tbio 378 | 11,445
Tdark 101 | 6,588
Tchem 33 | 1,598
Tclin 32 | 613

Collection

Kinase: IDG Consortium (Target... 2 | 125
RFA-RM-18-021 2 | 328

IMPC Phenotype

preweaning lethality, complete... 83 | 979
embryonic lethality prior to o... 21 | 239
embryonic lethality prior to t... 20 | 278
abnormal embryo size 13 | 220
embryonic growth retardation 11 | 106
abnormal behavior 9 | 298
decreased bone mineral content 7 | 151
preweaning lethality, incomple... 7 | 499
decreased total body fat amoun... 6 | 207
increased total body fat amoun... 6 | 134
abnormal bone structure 5 | 187
abnormal heart morphology 5 | 162
decreased grip strength 5 | 116
increased circulating choleste... 5 | 66
increased mean corpuscular hem... 5 | 96
pallor 5 | 34
prenatal lethality prior to he... 5 | 87
abnormal lens morphology 4 | 81
cataract 4 | 92
decreased body weight 4 | 161
decreased bone mineral density 4 | 126
decreased circulating alkaline... 4 | 46
decreased circulating choleste... 4 | 93
decreased circulating glucose ... 4 | 126
decreased fasted circulating g... 4 | 65
decreased mean platelet volume 4 | 25
hypoactivity 4 | 132
increased circulating alkaline... 4 | 122
increased fasted circulating g... 4 | 76
increased lean body mass 4 | 172
persistence of hyaloid vascula... 4 | 33
abnormal coat-hair pigmentatio... 3 | 64
abnormal embryo turning 3 | 31
abnormal neural tube closure 3 | 46
abnormal retina morphology 3 | 71
abnormal retinal vasculature m... 3 | 27
abnormal vertebrae morphology 3 | 18
decreased circulating HDL chol... 3 | 68
decreased circulating phosphat... 3 | 27
decreased lean body mass 3 | 135
decreased prepulse inhibition 3 | 82
decreased red blood cell distr... 3 | 41
decreased vertical activity 3 | 208
enlarged heart 3 | 210
impaired righting response 3 | 26
increased circulating HDL chol... 3 | 80
increased circulating phosphat... 3 | 26
increased prepulse inhibition 3 | 32
small testis 3 | 58
abnormal allantois morphology 2 | 8
abnormal behavioral response t... 2 | 66
abnormal bone mineralization 2 | 38
abnormal clavicle morphology 2 | 6
abnormal gait 2 | 69
abnormal limb bud morphology 2 | 17
abnormal liver size 2 | 5
abnormal neural tube morpholog... 2 | 12
abnormal placenta size 2 | 20
abnormal retinal blood vessel ... 2 | 26
abnormal rib morphology 2 | 10
abnormal seminal vesicle morph... 2 | 114
abnormal skin coloration 2 | 25
abnormal sleep behavior 2 | 70
abnormal tail bud morphology 2 | 8
abnormal testis morphology 2 | 43
decreased circulating total pr... 2 | 49
decreased erythrocyte cell num... 2 | 62
decreased heart weight 2 | 27
decreased startle reflex 2 | 75
hydrometra 2 | 53
hyperactivity 2 | 148
increased circulating bilirubi... 2 | 16
increased circulating iron lev... 2 | 30
increased circulating potassiu... 2 | 29
increased circulating serum al... 2 | 22
increased circulating sodium l... 2 | 71
increased heart weight 2 | 62
increased mean corpuscular vol... 2 | 92
increased or absent threshold ... 2 | 101
increased startle reflex 2 | 112
long tibia 2 | 25
male infertility 2 | 123
pale yolk sac 2 | 25
prenatal lethality 2 | 28
short tibia 2 | 97
small superior vagus ganglion 2 | 74
thin ventricular wall 2 | 24
thrombocytopenia 2 | 56
abnormal craniofacial morpholo... 1 | 33
abnormal cranium morphology 1 | 36
abnormal heart looping 1 | 5
abnormal tail movements 1 | 12
abnormal vocalization 1 | 21
decreased T cell number 1 | 15
decreased body length 1 | 101
decreased circulating creatine... 1 | 4
decreased circulating triglyce... 1 | 79
decreased food intake 1 | 13
increased exploration in new e... 1 | 8
small thymus 1 | 16

Disease

ovarian cancer 316 | 8,520
Carcinoma 270 | 11,493
osteosarcoma 238 | 7,950
psoriasis 165 | 6,694
lung cancer 162 | 4,740
pancreatic ductal adenocarcinoma liver metastasis 157 | 1,962
medulloblastoma, large-cell 142 | 6,241
Autosomal recessive predisposition 133 | 1,442
glioblastoma 110 | 5,792
atypical teratoid / rhabdoid tumor 99 | 5,112
Multiple myeloma 91 | 1,332
group 3 medulloblastoma 87 | 4,104
intraductal papillary-mucinous neoplasm (IPMN) 87 | 3,291
Muscle hypotonia 81 | 571
malignant mesothelioma 80 | 3,232
ependymoma 79 | 4,679
astrocytic glioma 73 | 2,597
Epilepsy 72 | 792
non-small cell lung cancer 72 | 2,890
Cognitive delay 71 | 608
Global developmental delay 71 | 608
Mental and motor retardation 71 | 608
Breast cancer 70 | 3,578
adult high grade glioma 70 | 3,801
Seizures 65 | 596
intraductal papillary-mucinous adenoma (IPMA) 57 | 2,955
invasive ductal carcinoma 57 | 2,951
lung adenocarcinoma 56 | 2,716
Acidosis, Lactic 55 | 97
Cerebellar Ataxia 54 | 304
Lactic acidemia 54 | 95
Leigh disease 54 | 100
oligodendroglioma 54 | 2,850
Intellectual disability 52 | 1,016
intraductal papillary-mucinous carcinoma (IPMC) 52 | 2,989
Failure to gain weight 51 | 365
Pediatric failure to thrive 51 | 365
Pick disease 50 | 1,894
primitive neuroectodermal tumor 49 | 3,035
Dull intelligence 48 | 645
Low intelligence 48 | 645
Mental Retardation 48 | 645
Mental deficiency 48 | 645
Poor school performance 48 | 645
ulcerative colitis 46 | 1,819
non primary Sjogren syndrome sicca 45 | 891
interstitial cystitis 44 | 2,312
Hypoglycemia 42 | 152
subependymal giant cell astrocytoma 40 | 2,287
Cancer 39 | 2,499
lung carcinoma 39 | 2,843
Nystagmus 38 | 317
group 4 medulloblastoma 38 | 1,855
tuberculosis 38 | 2,010
colon cancer 36 | 1,478
pancreatic cancer 36 | 2,398
breast carcinoma 35 | 1,638
Increased serum lactate 34 | 60
Lethargy 34 | 77
Waldenstrons macroglobulinemia 34 | 765
diabetes mellitus 33 | 1,728
Astrocytoma, Pilocytic 32 | 3,081
acute myeloid leukemia 32 | 783
adrenocortical carcinoma 32 | 1,428
ductal carcinoma in situ 32 | 1,745
Vomiting 31 | 116
Infantile onset 30 | 238
Neurodegenerative disease 30 | 414
Obesity 30 | 678
pituitary cancer 29 | 1,972
Highly variable clinical phenotype 28 | 150
Highly variable phenotype and severity 28 | 150
Highly variable phenotype, even within families 28 | 150
Hypertrophic Cardiomyopathy 28 | 117
Optic Atrophy 28 | 242
Phenotypic variability 28 | 150
Dystonia 27 | 164
Hyperreflexia 27 | 209
Schizophrenia 27 | 1,160
cystic fibrosis 27 | 1,696
Blepharoptosis 26 | 231
Sensorineural Hearing Loss (disorder) 26 | 284
aldosterone-producing adenoma 26 | 665
Dystonic disease 25 | 106
Liver Cirrhosis, Experimental 25 | 769
dermatomyositis 25 | 966
Feeding difficulties in infancy 24 | 175
Muscle Weakness 24 | 170
Hepatomegaly 23 | 285
Kidney cancer 23 | 2,613
Mitochondrial complex I deficiency 23 | 46
Lactic acidosis 22 | 51
Muscle Spasticity 22 | 195
Respiratory Failure 22 | 104
Strabismus 22 | 270
astrocytoma 22 | 1,146
gastric carcinoma 22 | 807
CSF lactate increased 21 | 33
Small head 21 | 374
medulloblastoma 20 | 720

Tissue

Endocrine System 536 | 18,159
Digestive Tract 533 | 17,369
Skin and soft tissues 533 | 17,230
Female tissues 532 | 17,400
Urinary Tract 532 | 16,678
Liver and Pancreas 531 | 16,750
Male tissues 530 | 17,142
Blood and immune system 529 | 16,909
Nervous System 528 | 16,725
Respiratory system 526 | 16,393
Cardiovascular System 518 | 15,192

Target Family

Enzyme 338 | 4,145
Non-IDG 178 | 12,091
Kinase 16 | 634
Transporter 6 | 473
Epigenetic 4 | 242
Ion Channel 1 | 344
Transcription Factor 1 | 1,400

UniProt Keyword

Transit peptide 544 | 544
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
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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