Development Level

Tbio 186 | 11,445
Tclin 41 | 613
Tdark 40 | 6,588
Tchem 9 | 1,598

IMPC Phenotype

preweaning lethality, complete... 31 | 979
embryonic lethality prior to o... 10 | 239
embryonic lethality prior to t... 9 | 278
abnormal behavior 6 | 298
abnormal embryo size 5 | 220
preweaning lethality, incomple... 5 | 499
cataract 4 | 92
decreased body weight 4 | 161
decreased bone mineral content 4 | 151
enlarged heart 4 | 210
increased heart weight 4 | 62
increased lean body mass 4 | 172
increased total body fat amoun... 4 | 134
pallor 4 | 34
prenatal lethality prior to he... 4 | 87
abnormal heart morphology 3 | 162
abnormal lens morphology 3 | 81
abnormal neural tube closure 3 | 46
decreased total body fat amoun... 3 | 207
embryonic growth retardation 3 | 106
hypoactivity 3 | 132
increased circulating sodium l... 3 | 71
abnormal embryo turning 2 | 31
abnormal limb bud morphology 2 | 17
abnormal placenta size 2 | 20
abnormal skin coloration 2 | 25
abnormal spleen morphology 2 | 55
abnormal tail bud morphology 2 | 8
decreased circulating LDL chol... 2 | 38
decreased circulating chloride... 2 | 30
decreased circulating phosphat... 2 | 27
decreased erythrocyte cell num... 2 | 62
decreased food intake 2 | 13
decreased heart weight 2 | 27
decreased lean body mass 2 | 135
decreased leukocyte cell numbe... 2 | 73
decreased mean corpuscular hem... 2 | 50
decreased mean corpuscular vol... 2 | 79
decreased mean platelet volume 2 | 25
decreased red blood cell distr... 2 | 41
decreased vertical activity 2 | 208
enlarged spleen 2 | 41
hyperactivity 2 | 148
impaired righting response 2 | 26
improved glucose tolerance 2 | 79
increased circulating alkaline... 2 | 122
increased circulating calcium ... 2 | 34
increased circulating glucose ... 2 | 24
increased circulating phosphat... 2 | 26
increased fasted circulating g... 2 | 76
persistence of hyaloid vascula... 2 | 33
prenatal lethality 2 | 28
abnormal coat-hair pigmentatio... 1 | 64
abnormal cranium morphology 1 | 36
abnormal heart looping 1 | 5
abnormal joint morphology 1 | 23
abnormal neural tube morpholog... 1 | 12
abnormal retinal blood vessel ... 1 | 26
abnormal retinal vasculature m... 1 | 27
abnormal seminal vesicle morph... 1 | 114
abnormal sleep behavior 1 | 70
abnormal snout morphology 1 | 23
abnormal tail movements 1 | 12
abnormal tooth morphology 1 | 24
abnormal vertebrae morphology 1 | 18
abnormal vitreous body morphol... 1 | 10
absent pinna reflex 1 | 23
absent vibrissae 1 | 12
brachydactyly 1 | 19
decreased body length 1 | 101
decreased circulating creatine... 1 | 4
decreased circulating creatini... 1 | 39
decreased circulating iron lev... 1 | 32
decreased circulating potassiu... 1 | 20
decreased circulating serum al... 1 | 82
decreased circulating triglyce... 1 | 79
decreased grip strength 1 | 116
decreased hematocrit 1 | 46
decreased hemoglobin content 1 | 68
decreased neutrophil cell numb... 1 | 42
decreased prepulse inhibition 1 | 82
decreased total retina thickne... 1 | 17
increased anti-nuclear antigen... 1 | 19
increased blood urea nitrogen ... 1 | 48
increased body weight 1 | 25
increased bone mineral content 1 | 108
increased bone mineral density 1 | 72
increased circulating iron lev... 1 | 30
increased circulating potassiu... 1 | 29
increased mean corpuscular vol... 1 | 92
increased monocyte cell number 1 | 63
increased prepulse inhibition 1 | 32
increased red blood cell distr... 1 | 34
increased startle reflex 1 | 112
long tibia 1 | 25
small superior vagus ganglion 1 | 74
small testis 1 | 58
syndactyly 1 | 23
thin ventricular wall 1 | 24
thrombocytosis 1 | 27

Disease

ovarian cancer 144 | 8,520
osteosarcoma 106 | 7,950
Carcinoma 96 | 11,493
medulloblastoma, large-cell 79 | 6,241
psoriasis 72 | 6,694
pancreatic ductal adenocarcinoma liver metastasis 67 | 1,962
glioblastoma 66 | 5,792
atypical teratoid / rhabdoid tumor 65 | 5,112
Multiple myeloma 64 | 1,332
lung cancer 63 | 4,740
ependymoma 60 | 4,679
Autosomal recessive predisposition 54 | 1,442
intraductal papillary-mucinous neoplasm (IPMN) 48 | 3,291
adult high grade glioma 47 | 3,801
astrocytic glioma 44 | 2,597
Breast cancer 39 | 3,578
Cerebellar Ataxia 38 | 304
Diabetes mellitus type 2 37 | 69
Treatment Refractory Type 2 Diabetes Mellitus 37 | 53
Cognitive delay 34 | 608
Global developmental delay 34 | 608
Leigh disease 34 | 100
Mental and motor retardation 34 | 608
oligodendroglioma 33 | 2,850
Epilepsy 32 | 792
Muscle hypotonia 32 | 571
Pick disease 32 | 1,894
group 3 medulloblastoma 32 | 4,104
Acidosis, Lactic 31 | 97
Lactic acidemia 31 | 95
malignant mesothelioma 30 | 3,232
primitive neuroectodermal tumor 30 | 3,035
invasive ductal carcinoma 29 | 2,951
Failure to gain weight 28 | 365
Nystagmus 28 | 317
Pediatric failure to thrive 28 | 365
Seizures 28 | 596
intraductal papillary-mucinous carcinoma (IPMC) 27 | 2,989
non-small cell lung cancer 27 | 2,890
Astrocytoma, Pilocytic 26 | 3,081
Blepharoptosis 26 | 231
Muscle Weakness 26 | 170
Mitochondrial complex I deficiency 25 | 46
Waldenstrons macroglobulinemia 25 | 765
diabetes mellitus 25 | 1,728
group 4 medulloblastoma 25 | 1,855
lung adenocarcinoma 25 | 2,716
Dystonia 24 | 164
Hyperreflexia 24 | 209
Optic Atrophy 24 | 242
Sensorineural Hearing Loss (disorder) 24 | 284
intraductal papillary-mucinous adenoma (IPMA) 24 | 2,955
non primary Sjogren syndrome sicca 24 | 891
subependymal giant cell astrocytoma 24 | 2,287
breast carcinoma 23 | 1,638
Highly variable clinical phenotype 22 | 150
Highly variable phenotype and severity 22 | 150
Highly variable phenotype, even within families 22 | 150
Hypertrophic Cardiomyopathy 22 | 117
Hypoglycemia 22 | 152
Muscle Spasticity 22 | 195
Phenotypic variability 22 | 150
Increased serum lactate 21 | 60
Intellectual disability 21 | 1,016
Strabismus 21 | 270
lung carcinoma 21 | 2,843
Developmental regression 20 | 95
Loss of developmental milestones 20 | 95
Mental deterioration in childhood 20 | 95
Neurodevelopmental regression 20 | 95
Psychomotor regression 20 | 95
Psychomotor regression beginning in infancy 20 | 95
Psychomotor regression in infants 20 | 95
Psychomotor regression, progressive 20 | 95
Babinski Reflex 19 | 100
Dull intelligence 19 | 645
Dystonic disease 19 | 106
Low intelligence 19 | 645
Mental Retardation 19 | 645
Mental deficiency 19 | 645
Poor school performance 19 | 645
Respiratory Failure 19 | 104
Vomiting 19 | 116
tuberculosis 19 | 2,010
Atrophy of cerebellum 18 | 103
Cerebellar degeneration 18 | 103
Infratentorial atrophy 18 | 103
Mitochondrial Complex 1 Deficiency 18 | 28
Rheumatoid arthritis 18 | 1,191
acute myeloid leukemia 18 | 783
CSF lactate increased 17 | 33
Comatose 17 | 56
Lethargy 17 | 77
Myopathy 17 | 185
Impaired exercise tolerance 16 | 42
Infantile onset 16 | 238
Schizophrenia 16 | 1,160
muscle degeneration 16 | 139
pancreatic cancer 16 | 2,398
ulcerative colitis 16 | 1,819

Tissue

Endocrine System 274 | 18,159
Digestive Tract 272 | 17,369
Female tissues 270 | 17,400
Skin and soft tissues 270 | 17,230
Liver and Pancreas 269 | 16,750
Male tissues 269 | 17,142
Urinary Tract 269 | 16,678
Blood and immune system 268 | 16,909
Cardiovascular System 268 | 15,192
Nervous System 267 | 16,725
Respiratory system 264 | 16,393

Target Family

Enzyme 151 | 4,145
Non-IDG 68 | 12,091
Transporter 50 | 473
Kinase 6 | 634
Ion Channel 1 | 344

UniProt Keyword

Mitochondrion inner membrane 276 | 276
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
Mitosis 273 | 273
Actin-binding 272 | 272
mRNA splicing 264 | 264
Neurogenesis 260 | 260
ANK repeat 258 | 258

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