Development Level

Tclin 46 | 613
Tbio 2 | 11,445
Tdark 1 | 6,588

IMPC Phenotype

preweaning lethality, complete... 8 | 979
cataract 2 | 92
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 tail movements 1 | 12
abnormal visceral yolk sac mor... 1 | 6
abnormal vitelline vasculature... 1 | 6
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
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

Disease

Diabetes mellitus type 2 46 | 69
Treatment Refractory Type 2 Diabetes Mellitus 46 | 53
Mitochondrial complex I deficiency 32 | 46
ovarian cancer 30 | 8,520
Leigh disease 27 | 100
Multiple myeloma 24 | 1,332
Cerebellar Ataxia 22 | 304
Acidosis, Lactic 21 | 97
Lactic acidemia 21 | 95
Mitochondrial Complex 1 Deficiency 21 | 28
Blepharoptosis 20 | 231
Sensorineural Hearing Loss (disorder) 20 | 284
Epilepsy 18 | 792
NADH:Q(1) Oxidoreductase deficiency 18 | 24
Autosomal recessive predisposition 17 | 1,442
Failure to gain weight 17 | 365
Muscle Weakness 17 | 170
Muscle hypotonia 17 | 571
Nystagmus 17 | 317
Pediatric failure to thrive 17 | 365
Seizures 17 | 596
Strabismus 17 | 270
Abnormal mitochondria in muscle tissue 16 | 20
CSF lactate increased 16 | 33
Cognitive delay 16 | 608
Developmental regression 16 | 95
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
Loss of developmental milestones 16 | 95
Mental and motor retardation 16 | 608
Mental deterioration in childhood 16 | 95
Muscle Spasticity 16 | 195
Neurodevelopmental regression 16 | 95
Phenotypic variability 16 | 150
Psychomotor regression 16 | 95
Psychomotor regression beginning in infancy 16 | 95
Psychomotor regression in infants 16 | 95
Psychomotor regression, progressive 16 | 95
Respiratory Failure 16 | 104
Leigh syndrome 15 | 28
Dystonia 14 | 164
Brain Edema 13 | 50
Cerebral Edema 13 | 30
Dystonic disease 13 | 106
Hypertrophic Cardiomyopathy 13 | 117
Hypoglycemia 13 | 152
Impaired exercise tolerance 13 | 42
Liver Failure 13 | 73
Optic Atrophy 13 | 242
X-linked dominant 13 | 57
Acute necrotizing encephalopathy 12 | 14
Atrophy of cerebellum 12 | 103
Babinski Reflex 12 | 100
Blind Vision 12 | 111
Blindness, Legal 12 | 110
Cerebellar degeneration 12 | 103
Comatose 12 | 56
Decreased tendon reflex 12 | 122
Feeding difficulties in infancy 12 | 175
Growth delay 12 | 114
Growth failure 12 | 114
Growth retardation 12 | 115
Infratentorial atrophy 12 | 103
Lethargy 12 | 77
Leukodystrophy 12 | 55
Neurogenic Muscular Atrophy 12 | 139
Neurogenic muscle atrophy, especially in the lower limbs 12 | 139
Pallor of optic disc 12 | 39
Poor growth 12 | 114
Progressive macrocephaly 12 | 18
Skeletal muscle atrophy 12 | 139
Very poor growth 12 | 114
Vomiting 12 | 116
muscle degeneration 12 | 139
osteosarcoma 12 | 7,950
Increased serum lactate 11 | 60
Ophthalmoplegia 10 | 106
astrocytic glioma 10 | 2,597
pancreatic ductal adenocarcinoma liver metastasis 10 | 1,962
Carcinoma 9 | 11,493
Mitochondrial myopathy 9 | 26
Retinitis Pigmentosa 9 | 226
lung cancer 9 | 4,740
psoriasis 8 | 6,694
Abnormal respiratory patterns 7 | 20
Central nervous system demyelination 7 | 28
Dull intelligence 7 | 645
Dysarthria 7 | 192
Gliosis 7 | 56
Hepatocellular necrosis 7 | 14
Hypertrichosis 7 | 46
Infantile onset 7 | 238
Low intelligence 7 | 645
Mental deficiency 7 | 645
Mood swings 7 | 77
Poor school performance 7 | 645
Progressive disorder 7 | 142

Tissue

Blood and immune system 49 | 16,909
Digestive Tract 49 | 17,369
Endocrine System 49 | 18,159
Female tissues 49 | 17,400
Liver and Pancreas 49 | 16,750
Male tissues 49 | 17,142
Nervous System 49 | 16,725
Respiratory system 49 | 16,393
Skin and soft tissues 49 | 17,230
Cardiovascular System 48 | 15,192
Urinary Tract 48 | 16,678

Target Family

Enzyme 46 | 4,145
Non-IDG 3 | 12,091

Compartment GO Term

Respiratory chain complex I 49 | 49
cellular_component 18,320 | 18,320
Cell 16,178 | 16,178
Cell part 16,177 | 16,177
Intracellular 14,108 | 14,108
Intracellular part 13,972 | 13,972
Organelle 12,238 | 12,238
Intracellular organelle 12,025 | 12,025
membrane-bounded organelle 11,132 | 11,132
Cytoplasm 10,983 | 10,983
Intracellular membrane-bounded... 10,341 | 10,341
Cytoplasmic part 9,247 | 9,247
Organelle part 8,976 | 8,976
Intracellular organelle part 8,784 | 8,784
Membrane 8,531 | 8,531
Nucleus 7,562 | 7,562
Cytosol 6,686 | 6,686
Membrane part 6,554 | 6,554
Plasma membrane 5,830 | 5,830
Macromolecular complex 5,475 | 5,475
Intrinsic component of membran... 5,458 | 5,458
Cell periphery 5,382 | 5,382
Integral component of membrane 5,331 | 5,331
Intracellular organelle lumen 5,090 | 5,090
Organelle lumen 5,090 | 5,090
membrane-enclosed lumen 5,090 | 5,090
Nucleoplasm 5,077 | 5,077
Nuclear part 4,290 | 4,290
Endomembrane system 4,237 | 4,237
Intracellular non-membrane-bou... 3,975 | 3,975
non-membrane-bounded organelle 3,974 | 3,974
Nuclear lumen 3,968 | 3,968
Protein complex 3,674 | 3,674
Organelle membrane 2,846 | 2,846
Extracellular region 2,732 | 2,732
Plasma membrane part 2,594 | 2,594
Vesicle 2,342 | 2,342
Cytoplasmic vesicle 2,218 | 2,218
Intracellular vesicle 2,217 | 2,217
Cytoskeleton 2,108 | 2,108
Endoplasmic reticulum 2,001 | 2,001
Bounding membrane of organelle 1,956 | 1,956
Golgi apparatus 1,932 | 1,932
Intrinsic component of plasma ... 1,749 | 1,749
Integral component of plasma m... 1,693 | 1,693
Catalytic complex 1,641 | 1,641
Cytoskeletal part 1,637 | 1,637
Extracellular region part 1,627 | 1,627
Vesicles 1,613 | 1,613
Mitochondrion 1,576 | 1,576
Whole membrane 1,548 | 1,548
Cell projection 1,541 | 1,541
Cytoplasmic vesicle part 1,513 | 1,513
Endoplasmic reticulum part 1,359 | 1,359
GO:0031975 1,150 | 1,150
Organelle envelope 1,142 | 1,142
Microtubule cytoskeleton 1,137 | 1,137
Extracellular space 1,124 | 1,124
Nucleoplasm part 1,122 | 1,122
Nuclear outer membrane-endopla... 1,121 | 1,121
Endoplasmic reticulum membrane 1,103 | 1,103
Chromosome 1,039 | 1,039
Mitochondrial part 1,036 | 1,036
Mitochondria 998 | 998
Secretory vesicle 970 | 970
Neuron part 969 | 969
Supramolecular polymer 967 | 967
Supramolecular complex 966 | 966
Cell junction 960 | 960
Supramolecular fiber 959 | 959
Golgi apparatus part 950 | 950
Nucleoli 942 | 942
Endosome 930 | 930
Nucleolus 926 | 926
Chromosomal part 889 | 889
GO:0098796 884 | 884
Ribonucleoprotein complex 865 | 865
Secretory granule 852 | 852
Cell projection part 850 | 850
Intracellular ribonucleoprotei... 850 | 850
Transferase complex 849 | 849
Cell surface 842 | 842
Plasma membrane region 841 | 841
Vesicle membrane 801 | 801
Cytoplasmic vesicle membrane 795 | 795
Polymeric cytoskeletal fiber 764 | 764
Mitochondrial envelope 746 | 746
Vacuole 732 | 732
Nuclear body 725 | 725
Golgi membrane 724 | 724
Microtubule organizing center 721 | 721
Extracellular matrix 714 | 714
Neuron projection 711 | 711
Centrosome 696 | 696
Mitochondrial membrane 696 | 696
Receptor complex 686 | 686
Synapse 662 | 662
Lysosome 624 | 624
Lytic vacuole 624 | 624
Chromatin 565 | 565
Endosomal part 565 | 565

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