Development Level

Tclin 46 | 613
Tbio 44 | 11,445
Tdark 12 | 6,588
Tchem 7 | 1,598

IMPC Phenotype

preweaning lethality, complete... 14 | 979
cataract 6 | 92
abnormal lens morphology 4 | 81
embryonic lethality prior to o... 4 | 239
abnormal behavior 3 | 298
hypoactivity 3 | 132
abnormal heart morphology 2 | 162
abnormal retinal blood vessel ... 2 | 26
decreased bone mineral content 2 | 151
decreased circulating triglyce... 2 | 79
decreased lean body mass 2 | 135
embryonic lethality prior to t... 2 | 278
enlarged heart 2 | 210
increased body length 2 | 32
increased bone mineral content 2 | 108
increased hematocrit 2 | 46
increased lean body mass 2 | 172
preweaning lethality, incomple... 2 | 499
abnormal allantois morphology 1 | 8
abnormal bone mineralization 1 | 38
abnormal bone structure 1 | 187
abnormal chorioallantoic fusio... 1 | 8
abnormal coat-hair pigmentatio... 1 | 64
abnormal cranium morphology 1 | 36
abnormal embryo development 1 | 7
abnormal embryo size 1 | 220
abnormal embryo turning 1 | 31
abnormal gait 1 | 69
abnormal head size 1 | 6
abnormal iris morphology 1 | 13
abnormal kidney morphology 1 | 65
abnormal neural tube morpholog... 1 | 12
abnormal placement of pupils 1 | 6
abnormal response to new envir... 1 | 10
abnormal retina morphology 1 | 71
abnormal retinal vasculature m... 1 | 27
abnormal seminal vesicle morph... 1 | 114
abnormal snout morphology 1 | 23
abnormal spleen morphology 1 | 55
abnormal tail movements 1 | 12
abnormal testis morphology 1 | 43
abnormal visceral yolk sac mor... 1 | 6
abnormal vitelline vasculature... 1 | 6
decreased blood urea nitrogen ... 1 | 51
decreased body length 1 | 101
decreased circulating LDL chol... 1 | 38
decreased circulating amylase ... 1 | 28
decreased circulating calcium ... 1 | 36
decreased circulating chloride... 1 | 30
decreased circulating choleste... 1 | 93
decreased circulating insulin ... 1 | 76
decreased circulating serum al... 1 | 82
decreased circulating total pr... 1 | 49
decreased erythrocyte cell num... 1 | 62
decreased fasted circulating g... 1 | 65
decreased heart weight 1 | 27
decreased hematocrit 1 | 46
decreased lactate dehydrogenas... 1 | 16
decreased red blood cell distr... 1 | 41
decreased threshold for audito... 1 | 26
decreased total body fat amoun... 1 | 207
decreased total retina thickne... 1 | 17
decreased vertical activity 1 | 208
embryonic growth retardation 1 | 106
hemorrhage 1 | 23
impaired righting response 1 | 26
improved glucose tolerance 1 | 79
increased anti-nuclear antigen... 1 | 19
increased circulating HDL chol... 1 | 80
increased circulating alkaline... 1 | 122
increased circulating amylase ... 1 | 25
increased circulating calcium ... 1 | 34
increased circulating fructosa... 1 | 13
increased circulating iron lev... 1 | 30
increased circulating magnesiu... 1 | 10
increased circulating phosphat... 1 | 26
increased circulating potassiu... 1 | 29
increased circulating sodium l... 1 | 71
increased circulating thyroxin... 1 | 7
increased circulating triglyce... 1 | 42
increased erythrocyte cell num... 1 | 39
increased fasted circulating g... 1 | 76
increased grip strength 1 | 41
increased heart rate 1 | 23
increased heart weight 1 | 62
increased hemoglobin content 1 | 45
increased spleen weight 1 | 10
increased total body fat amoun... 1 | 134
mammalian phenotype 1 | 17
narrow eye opening 1 | 12
pale yolk sac 1 | 25
pallor 1 | 34
persistence of hyaloid vascula... 1 | 33
small testis 1 | 58
stereotypic behavior 1 | 3
tremors 1 | 39
trunk curl 1 | 16

Disease

ovarian cancer 63 | 8,520
Diabetes mellitus type 2 45 | 69
Treatment Refractory Type 2 Diabetes Mellitus 45 | 53
Multiple myeloma 38 | 1,332
osteosarcoma 36 | 7,950
Carcinoma 30 | 11,493
Cerebellar Ataxia 30 | 304
Mitochondrial complex I deficiency 30 | 46
psoriasis 29 | 6,694
Leigh disease 28 | 100
Autosomal recessive predisposition 27 | 1,442
pancreatic ductal adenocarcinoma liver metastasis 27 | 1,962
atypical teratoid / rhabdoid tumor 26 | 5,112
Acidosis, Lactic 24 | 97
Lactic acidemia 24 | 95
ependymoma 24 | 4,679
glioblastoma 24 | 5,792
medulloblastoma, large-cell 24 | 6,241
Blepharoptosis 23 | 231
Muscle Weakness 23 | 170
Sensorineural Hearing Loss (disorder) 22 | 284
astrocytic glioma 22 | 2,597
intraductal papillary-mucinous neoplasm (IPMN) 22 | 3,291
lung cancer 22 | 4,740
Cognitive delay 20 | 608
Dystonia 20 | 164
Epilepsy 20 | 792
Global developmental delay 20 | 608
Mental and motor retardation 20 | 608
Mitochondrial Complex 1 Deficiency 20 | 28
Muscle hypotonia 20 | 571
Developmental regression 19 | 95
Loss of developmental milestones 19 | 95
Mental deterioration in childhood 19 | 95
Neurodevelopmental regression 19 | 95
Nystagmus 19 | 317
Psychomotor regression 19 | 95
Psychomotor regression beginning in infancy 19 | 95
Psychomotor regression in infants 19 | 95
Psychomotor regression, progressive 19 | 95
Dystonic disease 18 | 106
Highly variable clinical phenotype 18 | 150
Highly variable phenotype and severity 18 | 150
Highly variable phenotype, even within families 18 | 150
Hyperreflexia 18 | 209
Increased serum lactate 18 | 60
Phenotypic variability 18 | 150
Seizures 18 | 596
oligodendroglioma 18 | 2,850
Abnormal mitochondria in muscle tissue 17 | 20
Failure to gain weight 17 | 365
Muscle Spasticity 17 | 195
NADH:Q(1) Oxidoreductase deficiency 17 | 24
Optic Atrophy 17 | 242
Pediatric failure to thrive 17 | 365
Strabismus 17 | 270
diabetes mellitus 17 | 1,728
CSF lactate increased 16 | 33
Hypoglycemia 16 | 152
Leigh syndrome 16 | 28
Respiratory Failure 16 | 104
Ophthalmoplegia 15 | 106
Breast cancer 14 | 3,578
Vomiting 14 | 116
intraductal papillary-mucinous carcinoma (IPMC) 14 | 2,989
invasive ductal carcinoma 14 | 2,951
Babinski Reflex 13 | 100
Hypertrophic Cardiomyopathy 13 | 117
Impaired exercise tolerance 13 | 42
adult high grade glioma 13 | 3,801
Atrophy of cerebellum 12 | 103
Cerebellar degeneration 12 | 103
Dull intelligence 12 | 645
Infratentorial atrophy 12 | 103
Intellectual disability 12 | 1,016
Leukodystrophy 12 | 55
Low intelligence 12 | 645
Mental Retardation 12 | 645
Mental deficiency 12 | 645
Neurogenic Muscular Atrophy 12 | 139
Neurogenic muscle atrophy, especially in the lower limbs 12 | 139
Pick disease 12 | 1,894
Poor school performance 12 | 645
Skeletal muscle atrophy 12 | 139
X-linked dominant 12 | 57
lung carcinoma 12 | 2,843
malignant mesothelioma 12 | 3,232
muscle degeneration 12 | 139
pancreatic cancer 12 | 2,398
Blind Vision 11 | 111
Blindness, Legal 11 | 110
Congenital Bilateral Cataracts 11 | 50
Congenital cataract 11 | 50
Decreased tendon reflex 11 | 122
Feeding difficulties in infancy 11 | 175
Gliosis 11 | 56
Waldenstrons macroglobulinemia 11 | 765
group 3 medulloblastoma 11 | 4,104
intraductal papillary-mucinous adenoma (IPMA) 11 | 2,955
non-small cell lung cancer 11 | 2,890

Tissue

Blood and immune system 108 | 16,909
Digestive Tract 108 | 17,369
Endocrine System 108 | 18,159
Female tissues 108 | 17,400
Liver and Pancreas 108 | 16,750
Male tissues 108 | 17,142
Nervous System 108 | 16,725
Skin and soft tissues 108 | 17,230
Urinary Tract 108 | 16,678
Respiratory system 107 | 16,393
Cardiovascular System 105 | 15,192

Target Family

Enzyme 69 | 4,145
Non-IDG 39 | 12,091
Ion Channel 1 | 344

UniProt Keyword

Electron transport 109 | 109
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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