Development Level

Tclin 14 | 613
Tbio 2 | 11,445

IMPC Phenotype

preweaning lethality, complete... 6 | 979
embryonic lethality prior to o... 2 | 239
abnormal allantois morphology 1 | 8
abnormal behavior 1 | 298
abnormal chorioallantoic fusio... 1 | 8
abnormal embryo development 1 | 7
abnormal embryo size 1 | 220
abnormal embryo turning 1 | 31
abnormal heart morphology 1 | 162
abnormal lens morphology 1 | 81
abnormal neural tube morpholog... 1 | 12
abnormal retinal blood vessel ... 1 | 26
abnormal retinal vasculature m... 1 | 27
abnormal tail movements 1 | 12
abnormal visceral yolk sac mor... 1 | 6
abnormal vitelline vasculature... 1 | 6
cataract 1 | 92
decreased circulating choleste... 1 | 93
decreased circulating triglyce... 1 | 79
decreased erythrocyte cell num... 1 | 62
decreased lactate dehydrogenas... 1 | 16
embryonic growth retardation 1 | 106
embryonic lethality prior to t... 1 | 278
hemorrhage 1 | 23
hypoactivity 1 | 132
increased circulating calcium ... 1 | 34
increased circulating phosphat... 1 | 26
increased heart weight 1 | 62
increased lean body mass 1 | 172
pale yolk sac 1 | 25
pallor 1 | 34

Disease

Diabetes mellitus type 2 14 | 69
Mitochondrial complex I deficiency 14 | 46
Treatment Refractory Type 2 Diabetes Mellitus 14 | 53
Cerebellar Ataxia 13 | 304
Leigh disease 13 | 100
Acidosis, Lactic 11 | 97
Lactic acidemia 11 | 95
Blepharoptosis 10 | 231
Dystonia 10 | 164
Mitochondrial Complex 1 Deficiency 10 | 28
Muscle Weakness 10 | 170
NADH:Q(1) Oxidoreductase deficiency 10 | 24
Sensorineural Hearing Loss (disorder) 10 | 284
Abnormal mitochondria in muscle tissue 9 | 20
Developmental regression 9 | 95
Dystonic disease 9 | 106
Leigh syndrome 9 | 28
Loss of developmental milestones 9 | 95
Mental deterioration in childhood 9 | 95
Neurodevelopmental regression 9 | 95
Optic Atrophy 9 | 242
Psychomotor regression 9 | 95
Psychomotor regression beginning in infancy 9 | 95
Psychomotor regression in infants 9 | 95
Psychomotor regression, progressive 9 | 95
Leber's optic atrophy 8 | 10
Mitochondrial myopathy 8 | 26
Myopathy 8 | 185
ovarian cancer 8 | 8,520
Abnormal vision 7 | 52
Autosomal recessive predisposition 7 | 1,442
Blind spot located at fixation point 7 | 21
Blurred vision 7 | 19
Cardiac Arrhythmia 7 | 103
Cardiac conduction abnormalities 7 | 78
Central retinal vessel vascular tortuosity 7 | 9
Conduction disorder of the heart 7 | 79
Decreased visual acuity, slowly progressive 7 | 13
EKG abnormalities 7 | 78
Electrocardiogram abnormal 7 | 81
Electrocardiogram change 7 | 78
Epilepsy 7 | 792
Leber hereditary optic neuropathy 7 | 14
Mitochondrial respiratory chain defects 7 | 15
Muscle hypotonia 7 | 571
Optic Atrophy, Hereditary, Leber 7 | 14
Optic Neuropathy 7 | 12
Peripheral Neuropathy 7 | 134
Polyneuropathy 7 | 64
Retinal telangiectasia 7 | 12
Scotoma, Central 7 | 21
Scotoma, Centrocecal 7 | 11
Slow decrease in visual acuity 7 | 13
Static Tremor 7 | 21
Tortuous retinal vessels 7 | 15
CSF lactate increased 6 | 33
Carcinoma 6 | 11,493
Cognitive delay 6 | 608
Failure to gain weight 6 | 365
Global developmental delay 6 | 608
Highly variable clinical phenotype 6 | 150
Highly variable phenotype and severity 6 | 150
Highly variable phenotype, even within families 6 | 150
Hyperreflexia 6 | 209
Hypoglycemia 6 | 152
Increased serum lactate 6 | 60
Maternally Inherited Leigh Syndrome 6 | 7
Mental and motor retardation 6 | 608
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 6 | 9
Muscle Spasticity 6 | 195
Nystagmus 6 | 317
Ophthalmoplegia 6 | 106
Pediatric failure to thrive 6 | 365
Phenotypic variability 6 | 150
Respiratory Failure 6 | 104
Seizures 6 | 596
Strabismus 6 | 270
Vomiting 6 | 116
osteosarcoma 6 | 7,950
Atrophy of cerebellum 5 | 103
Babinski Reflex 5 | 100
Blind Vision 5 | 111
Blindness, Legal 5 | 110
Cerebellar degeneration 5 | 103
Congenital Bilateral Cataracts 5 | 50
Congenital cataract 5 | 50
Decreased tendon reflex 5 | 122
Growth delay 5 | 114
Growth failure 5 | 114
Growth retardation 5 | 115
Impaired exercise tolerance 5 | 42
Infratentorial atrophy 5 | 103
Lactic acidosis 5 | 51
Liver Failure 5 | 73
Neurogenic Muscular Atrophy 5 | 139
Neurogenic muscle atrophy, especially in the lower limbs 5 | 139
Poor growth 5 | 114
Skeletal muscle atrophy 5 | 139
Very poor growth 5 | 114
muscle degeneration 5 | 139

Tissue

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

Target Family

Enzyme 15 | 4,145
Non-IDG 1 | 12,091

UniProt Keyword

Ubiquinone 16 | 16
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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