Development Level

Tclin 45 | 613
Tbio 13 | 11,445
Tdark 4 | 6,588
Tchem 2 | 1,598

IMPC Phenotype

preweaning lethality, complete... 9 | 979
cataract 3 | 92
abnormal heart morphology 2 | 162
abnormal lens morphology 2 | 81
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 neural tube morpholog... 1 | 12
abnormal tail movements 1 | 12
abnormal visceral yolk sac mor... 1 | 6
abnormal vitelline vasculature... 1 | 6
decreased circulating chloride... 1 | 30
decreased circulating choleste... 1 | 93
decreased circulating triglyce... 1 | 79
decreased erythrocyte cell num... 1 | 62
decreased lactate dehydrogenas... 1 | 16
decreased total retina thickne... 1 | 17
decreased vertical activity 1 | 208
embryonic growth retardation 1 | 106
embryonic lethality prior to t... 1 | 278
enlarged heart 1 | 210
hemorrhage 1 | 23
hypoactivity 1 | 132
increased circulating calcium ... 1 | 34
increased circulating phosphat... 1 | 26
increased grip strength 1 | 41
increased heart weight 1 | 62
increased lean body mass 1 | 172
pale yolk sac 1 | 25
pallor 1 | 34
preweaning lethality, incomple... 1 | 499

Disease

Diabetes mellitus type 2 45 | 69
Treatment Refractory Type 2 Diabetes Mellitus 45 | 53
ovarian cancer 37 | 8,520
Multiple myeloma 31 | 1,332
Mitochondrial complex I deficiency 30 | 46
Leigh disease 27 | 100
Cerebellar Ataxia 26 | 304
Acidosis, Lactic 23 | 97
Lactic acidemia 23 | 95
Blepharoptosis 21 | 231
Sensorineural Hearing Loss (disorder) 21 | 284
Autosomal recessive predisposition 20 | 1,442
Mitochondrial Complex 1 Deficiency 20 | 28
Muscle Weakness 18 | 170
Developmental regression 17 | 95
Dystonia 17 | 164
Epilepsy 17 | 792
Loss of developmental milestones 17 | 95
Mental deterioration in childhood 17 | 95
NADH:Q(1) Oxidoreductase deficiency 17 | 24
Neurodevelopmental regression 17 | 95
Nystagmus 17 | 317
Psychomotor regression 17 | 95
Psychomotor regression beginning in infancy 17 | 95
Psychomotor regression in infants 17 | 95
Psychomotor regression, progressive 17 | 95
Cognitive delay 16 | 608
Dystonic disease 16 | 106
Failure to gain weight 16 | 365
Global developmental delay 16 | 608
Highly variable clinical phenotype 16 | 150
Highly variable phenotype and severity 16 | 150
Highly variable phenotype, even within families 16 | 150
Hyperreflexia 16 | 209
Increased serum lactate 16 | 60
Mental and motor retardation 16 | 608
Muscle hypotonia 16 | 571
Pediatric failure to thrive 16 | 365
Phenotypic variability 16 | 150
Seizures 16 | 596
Strabismus 16 | 270
Abnormal mitochondria in muscle tissue 15 | 20
CSF lactate increased 15 | 33
Leigh syndrome 15 | 28
Muscle Spasticity 15 | 195
Optic Atrophy 15 | 242
Respiratory Failure 15 | 104
osteosarcoma 15 | 7,950
Hypoglycemia 13 | 152
Ophthalmoplegia 13 | 106
Atrophy of cerebellum 12 | 103
Carcinoma 12 | 11,493
Cerebellar degeneration 12 | 103
Infratentorial atrophy 12 | 103
Neurogenic Muscular Atrophy 12 | 139
Neurogenic muscle atrophy, especially in the lower limbs 12 | 139
Skeletal muscle atrophy 12 | 139
X-linked dominant 12 | 57
muscle degeneration 12 | 139
pancreatic ductal adenocarcinoma liver metastasis 12 | 1,962
psoriasis 12 | 6,694
Acute necrotizing encephalopathy 11 | 14
Babinski Reflex 11 | 100
Blind Vision 11 | 111
Blindness, Legal 11 | 110
Brain Edema 11 | 50
Cerebral Edema 11 | 30
Comatose 11 | 56
Decreased tendon reflex 11 | 122
Feeding difficulties in infancy 11 | 175
Growth delay 11 | 114
Growth failure 11 | 114
Growth retardation 11 | 115
Hypertrophic Cardiomyopathy 11 | 117
Impaired exercise tolerance 11 | 42
Lethargy 11 | 77
Leukodystrophy 11 | 55
Liver Failure 11 | 73
Pallor of optic disc 11 | 39
Poor growth 11 | 114
Progressive macrocephaly 11 | 18
Very poor growth 11 | 114
Vomiting 11 | 116
astrocytic glioma 11 | 2,597
lung cancer 11 | 4,740
Mitochondrial myopathy 10 | 26
diabetes mellitus 10 | 1,728
ependymoma 10 | 4,679
Leber hereditary optic neuropathy 9 | 14
Myopathy 9 | 185
Retinitis Pigmentosa 9 | 226
Waldenstrons macroglobulinemia 9 | 765
glioblastoma 9 | 5,792
Decreased visual acuity, slowly progressive 8 | 13
Dull intelligence 8 | 645
Dysarthria 8 | 192
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 8 | 9
Mitochondrial respiratory chain defects 8 | 15
Poor school performance 8 | 645
Slow decrease in visual acuity 8 | 13

Tissue

Blood and immune system 64 | 16,909
Cardiovascular System 64 | 15,192
Digestive Tract 64 | 17,369
Endocrine System 64 | 18,159
Female tissues 64 | 17,400
Liver and Pancreas 64 | 16,750
Male tissues 64 | 17,142
Nervous System 64 | 16,725
Respiratory system 64 | 16,393
Skin and soft tissues 64 | 17,230
Urinary Tract 64 | 16,678

Target Family

Enzyme 50 | 4,145
Non-IDG 14 | 12,091

UniProt Keyword

Respiratory chain 64 | 64
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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