Development Level

Tbio 11 | 11,651

Collection

Kinase: IDG Consortium (Target... 1 | 125
RFA-RM-18-021 1 | 328

IMPC Phenotype

preweaning lethality, complete... 4 | 979
embryonic lethality prior to t... 3 | 278
embryonic lethality prior to o... 2 | 239
abnormal bone structure 1 | 187
abnormal embryo size 1 | 220
abnormal embryo turning 1 | 31
abnormal neural tube closure 1 | 46
abnormal tail bud morphology 1 | 8
abnormal tooth morphology 1 | 24
abnormal vitreous body morphol... 1 | 10
decreased bone mineral content 1 | 151
decreased circulating creatine... 1 | 4
decreased circulating free fat... 1 | 31
decreased heart weight 1 | 27
embryonic growth retardation 1 | 106
increased circulating sodium l... 1 | 71
increased startle reflex 1 | 112
increased total body fat amoun... 1 | 134
persistence of hyaloid vascula... 1 | 33
vertebral fusion 1 | 23

Disease

Coenzyme Q10 deficiency disease 7 | 8
Multiple acyl-CoA dehydrogenase deficiency 7 | 25
osteosarcoma 7 | 7,950
Carcinoma 6 | 11,493
COENZYME Q10 DEFICIENCY, PRIMARY, 1 5 | 6
Autosomal recessive predisposition 4 | 1,442
ovarian cancer 4 | 8,520
psoriasis 4 | 6,694
Cerebellar Ataxia 3 | 304
Nephrotic Syndrome 3 | 78
ependymoma 3 | 4,679
group 3 medulloblastoma 3 | 4,104
intraductal papillary-mucinous neoplasm (IPMN) 3 | 3,291
invasive ductal carcinoma 3 | 2,951
Focal segmental glomerulosclerosis 2 | 10
Increased serum lactate 2 | 60
Intellectual disability 2 | 1,016
Leigh disease 2 | 100
Neurodegenerative disease 2 | 414
Sensorineural Hearing Loss (disorder) 2 | 284
acute myeloid leukemia 2 | 783
ductal carcinoma in situ 2 | 1,745
medulloblastoma, large-cell 2 | 6,241
non-small cell lung cancer 2 | 2,890
pancreatic ductal adenocarcinoma liver metastasis 2 | 1,962
Abnormal vision 1 | 52
Absent reflex 1 | 92
Absent tendon reflex 1 | 92
Acidosis, Lactic 1 | 97
Amyotrophic lateral sclerosis 1 | 451
Anemia 1 | 365
Aortic Valve Insufficiency 1 | 40
Atrophy of cerebellum 1 | 103
Babesiosis 1 | 14
Big calvaria 1 | 147
COENZYME Q10 DEFICIENCY, PRIMARY, 8 1 | 1
Cerebellar degeneration 1 | 103
Corneal Dystrophy, Crystalline, of Schnyder 1 | 1
Corneal dystrophy 1 | 24
Creatine phosphokinase serum increased 1 | 110
Cutis marmorata 1 | 32
Cystinosis 1 | 14
Deglutition Disorders 1 | 132
Dysarthria 1 | 192
Early myoclonic encephalopathy 1 | 15
Edema, Cardiac 1 | 3
Elevated creatine kinase 1 | 110
Encephalopathies 1 | 43
Epilepsy 1 | 792
Focal glomerulosclerosis 1 | 37
Hemoglobin low 1 | 124
Highly variable clinical phenotype 1 | 150
Highly variable phenotype and severity 1 | 150
Highly variable phenotype, even within families 1 | 150
Hypertrophic Cardiomyopathy 1 | 117
Idiopathic pulmonary arterial hypertension 1 | 40
Increased head circumference 1 | 147
Increased size of cranium 1 | 147
Increased size of skull 1 | 147
Infantile onset 1 | 238
Infratentorial atrophy 1 | 103
Intracranial Hemorrhages 1 | 16
Lactic acidemia 1 | 95
Lipid metabolism disorder 1 | 114
Liver Failure 1 | 73
Mild Mental Retardation 1 | 70
Mitral regurgitation, mild 1 | 32
Mitral valve insufficiency 1 | 49
Motor delay 1 | 147
Multiple system atrophy 1 | 29
Muscle weakness, progressive 1 | 22
Neurilemmoma 1 | 23
Neurofibromatosis 3 1 | 4
Neuropathy 1 | 261
No development of motor milestones 1 | 147
Pancytopenia 1 | 45
Parkinson's disease 1 | 392
Peripheral Neuropathy 1 | 134
Phenotypic variability 1 | 150
Postural instability 1 | 19
Primary hypogonadism 1 | 37
Proteinuria 1 | 144
Pulmonary hypertension 1 | 86
Rapidly progressive 1 | 27
Rapidly progressive disorder 1 | 27
Reflex, Deep Tendon, Absent 1 | 92
Respiratory Insufficiency 1 | 132
Respiratory function loss 1 | 121
Schnyder Corneal Dystrophy 1 | 23
Schnyder crystalline corneal dystrophy 1 | 1
Schwannomatosis 1 | 4
Seizures 1 | 596
Spastic Ataxia 1 | 18
Specific learning disability 1 | 47
adrenocortical carcinoma 1 | 1,428
astrocytoma 1 | 1,146
nasopharyngeal carcinoma 1 | 1,058
posterior fossa group B ependymoma 1 | 416
pulmonary arterial hypertension 1 | 76
tuberculosis 1 | 2,010

Tissue

Blood and immune system 11 | 16,909
Cardiovascular System 11 | 15,192
Digestive Tract 11 | 17,369
Endocrine System 11 | 18,159
Female tissues 11 | 17,400
Liver and Pancreas 11 | 16,750
Male tissues 11 | 17,142
Nervous System 11 | 16,725
Respiratory system 11 | 16,393
Skin and soft tissues 11 | 17,230
Urinary Tract 11 | 16,678

Target Family

Enzyme 8 | 4,145
Non-IDG 2 | 12,091
Kinase 1 | 634

UniProt Keyword

Ubiquinone biosynthesis 11 | 11
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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