Development Level

Tbio 11 | 11,445
Tclin 11 | 613
Tchem 1 | 1,598
Tdark 1 | 6,588

IMPC Phenotype

preweaning lethality, complete... 8 | 979
embryonic lethality prior to o... 3 | 239
abnormal allantois morphology 1 | 8
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 neural tube morpholog... 1 | 12
abnormal visceral yolk sac mor... 1 | 6
abnormal vitelline vasculature... 1 | 6
decreased lean body mass 1 | 135
decreased vertical activity 1 | 208
embryonic growth retardation 1 | 106
embryonic lethality prior to t... 1 | 278
enlarged heart atrium 1 | 4
hemorrhage 1 | 23
increased circulating sodium l... 1 | 71
increased mean corpuscular hem... 1 | 96
pale yolk sac 1 | 25
pallor 1 | 34

Disease

Leigh disease 24 | 100
Leigh syndrome 16 | 28
ovarian cancer 16 | 8,520
Acidosis, Lactic 15 | 97
Cognitive delay 15 | 608
Global developmental delay 15 | 608
Mental and motor retardation 15 | 608
Cerebellar Ataxia 14 | 304
Increased serum lactate 14 | 60
Lactic acidemia 14 | 95
Muscle hypotonia 14 | 571
Autosomal recessive predisposition 13 | 1,442
Blepharoptosis 13 | 231
CSF lactate increased 13 | 33
Carcinoma 13 | 11,493
Epilepsy 13 | 792
Seizures 13 | 596
Dystonia 12 | 164
Failure to gain weight 12 | 365
Mitochondrial complex I deficiency 12 | 46
Pediatric failure to thrive 12 | 365
Sensorineural Hearing Loss (disorder) 12 | 284
Diabetes mellitus type 2 11 | 69
Dystonic disease 11 | 106
Highly variable clinical phenotype 11 | 150
Highly variable phenotype and severity 11 | 150
Highly variable phenotype, even within families 11 | 150
Infantile onset 11 | 238
Nystagmus 11 | 317
Optic Atrophy 11 | 242
Phenotypic variability 11 | 150
Treatment Refractory Type 2 Diabetes Mellitus 11 | 53
Dull intelligence 10 | 645
Gliosis 10 | 56
Intellectual disability 10 | 1,016
Low intelligence 10 | 645
Mental Retardation 10 | 645
Mental deficiency 10 | 645
Ophthalmoplegia 10 | 106
Poor school performance 10 | 645
Retinitis Pigmentosa 10 | 226
Strabismus 10 | 270
Central nervous system demyelination 9 | 28
Dysarthria 9 | 192
Hyperreflexia 9 | 209
Mood swings 9 | 77
Muscle Spasticity 9 | 195
Progressive disorder 9 | 142
Respiratory Failure 9 | 104
Abnormal respiratory patterns 8 | 20
Hepatocellular necrosis 8 | 14
Hypertrichosis 8 | 46
osteosarcoma 8 | 7,950
Hypertrophic Cardiomyopathy 7 | 117
Lactic acidosis 7 | 51
Mitochondrial Complex 1 Deficiency 7 | 28
Multiple myeloma 7 | 1,332
NADH:Q(1) Oxidoreductase deficiency 7 | 24
Impaired exercise tolerance 6 | 42
Pick disease 6 | 1,894
cytochrome-c oxidase deficiency disease 6 | 19
lung cancer 6 | 4,740
pancreatic ductal adenocarcinoma liver metastasis 6 | 1,962
Abnormal mitochondria in muscle tissue 5 | 20
Developmental regression 5 | 95
Loss of developmental milestones 5 | 95
Mental deterioration in childhood 5 | 95
Neurodevelopmental regression 5 | 95
Psychomotor regression 5 | 95
Psychomotor regression beginning in infancy 5 | 95
Psychomotor regression in infants 5 | 95
Psychomotor regression, progressive 5 | 95
astrocytic glioma 5 | 2,597
atypical teratoid / rhabdoid tumor 5 | 5,112
glioblastoma 5 | 5,792
psoriasis 5 | 6,694
Congenital myasthenic syndrome, acetazolamide-responsive 4 | 5
Degenerative polyarthritis 4 | 115
Mitochondrial myopathy 4 | 26
Muscle Weakness 4 | 170
Neuropathy 4 | 261
Osteoarthritis 4 | 184
Schizophrenia 4 | 1,160
ependymoma 4 | 4,679
intraductal papillary-mucinous neoplasm (IPMN) 4 | 3,291
medulloblastoma, large-cell 4 | 6,241
Atrophy of cerebellum 3 | 103
Blindness, Legal 3 | 110
Cerebellar degeneration 3 | 103
Decreased tendon reflex 3 | 122
Dementia 3 | 175
Hepatomegaly 3 | 285
Hypoglycemia 3 | 152
Impaired cognition 3 | 96
Infratentorial atrophy 3 | 103
Liver Dysfunction 3 | 99
Stomach Neoplasms 3 | 300
Vomiting 3 | 116
diabetes mellitus 3 | 1,728
intraductal papillary-mucinous carcinoma (IPMC) 3 | 2,989

Tissue

Blood and immune system 24 | 16,909
Cardiovascular System 24 | 15,192
Digestive Tract 24 | 17,369
Endocrine System 24 | 18,159
Female tissues 24 | 17,400
Liver and Pancreas 24 | 16,750
Male tissues 24 | 17,142
Nervous System 24 | 16,725
Respiratory system 24 | 16,393
Skin and soft tissues 24 | 17,230
Urinary Tract 24 | 16,678

Target Family

Enzyme 20 | 4,145
Non-IDG 4 | 12,091

UniProt Keyword

Leigh syndrome 24 | 24
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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