Development Level

Tbio 5 | 11,651
Tchem 2 | 1,388

IMPC Phenotype

preweaning lethality, complete... 2 | 979
cataract 1 | 92
persistence of hyaloid vascula... 1 | 33

Disease

Acidosis, Lactic 4 | 97
Leigh disease 4 | 100
Pyruvate decarboxylase deficiency 4 | 16
osteosarcoma 4 | 7,950
ovarian cancer 4 | 8,520
Autosomal recessive predisposition 3 | 1,442
Carcinoma 3 | 11,493
Cognitive delay 3 | 608
Global developmental delay 3 | 608
Lactic acidemia 3 | 95
Lactic acidosis 3 | 51
Mental and motor retardation 3 | 608
Small head 3 | 374
medulloblastoma, large-cell 3 | 6,241
Abnormal ocular motility 2 | 19
Blepharoptosis 2 | 231
Cerebellar Ataxia 2 | 304
Choreoathetoid movements 2 | 32
Choreoathetosis 2 | 32
Decreased activity of the pyruvate dehydrogenase complex 2 | 3
Dull intelligence 2 | 645
Dystonia 2 | 164
Dystonic disease 2 | 106
Epilepsy 2 | 792
Hyper-beta-alaninemia 2 | 9
Increased blood alanine 2 | 9
Increased serum alanine 2 | 9
Infantile onset 2 | 238
Intellectual disability 2 | 1,016
Low intelligence 2 | 645
Mental Retardation 2 | 645
Mental deficiency 2 | 645
Multiple myeloma 2 | 1,332
Myocardial Ischemia 2 | 169
Neonatal Hypotonia 2 | 64
Pick disease 2 | 1,894
Poor school performance 2 | 645
Pyruvate Dehydrogenase Complex Deficiency Disease 2 | 2
Seizures 2 | 596
acute quadriplegic myopathy 2 | 1,158
ductal carcinoma in situ 2 | 1,745
glioblastoma 2 | 5,792
hereditary spastic paraplegia 2 | 318
intraductal papillary-mucinous neoplasm (IPMN) 2 | 3,291
lung cancer 2 | 4,740
lung carcinoma 2 | 2,843
subependymal giant cell astrocytoma 2 | 2,287
Anteverted nostril 1 | 191
Broad flat nasal bridge 1 | 236
CSF lactate increased 1 | 33
Carcinoma, Renal Cell 1 | 124
Cardia cancer 1 | 3
Cardiomyopathies 1 | 110
Cerebral atrophy 1 | 178
Coffin-Lowry syndrome 1 | 9
Degenerative brain disorder 1 | 100
Degenerative polyarthritis 1 | 115
Dilated ventricles (finding) 1 | 121
Disease Progression 1 | 136
Drooling 1 | 27
Dysembryoplastic neuroepithelial tumor 1 | 9
Episodic ataxia 1 | 22
Frontal bossing 1 | 157
Gait, Unsteady 1 | 29
Gross motor development delay 1 | 21
Highly variable clinical phenotype 1 | 150
Highly variable phenotype and severity 1 | 150
Highly variable phenotype, even within families 1 | 150
Highly variable severity 1 | 157
Hyperreflexia 1 | 209
Increased serum lactate 1 | 60
Increased serum pyruvate 1 | 9
Lethargy 1 | 77
Liver Cirrhosis 1 | 181
Long philtrum 1 | 137
Low Birth Weights 1 | 69
Metabolic acidosis 1 | 90
Mild Mental Retardation 1 | 70
Nasal bridge wide 1 | 236
Osteoarthritis 1 | 184
Pectus excavatum 1 | 100
Phenotypic variability 1 | 150
Poor speech 1 | 37
Prenatal onset 1 | 139
Problems speaking 1 | 37
Pyruvate Dehydrogenase E2 Deficiency 1 | 2
Renal Cell Carcinoma 1 | 214
Sialorrhea 1 | 28
Small for gestational age (disorder) 1 | 69
Spastic Paraplegia 1 | 42
Spastic Quadriplegia 1 | 42
Stomach Neoplasms 1 | 300
Supratentorial atrophy 1 | 94
Systemic lupus erythematosus 1 | 194
Triangular head shape 1 | 10
Variable expressivity 1 | 157
Wedge shaped head 1 | 10
X-linked dominant 1 | 57
active Crohn's disease 1 | 922
inflammatory breast cancer 1 | 286

Tissue

Blood and immune system 7 | 16,909
Digestive Tract 7 | 17,369
Endocrine System 7 | 18,159
Female tissues 7 | 17,400
Nervous System 7 | 16,725
Cardiovascular System 6 | 15,192
Liver and Pancreas 6 | 16,750
Male tissues 6 | 17,142
Respiratory system 6 | 16,393
Skin and soft tissues 6 | 17,230
Urinary Tract 6 | 16,678

Target Family

Enzyme 4 | 4,145
Transcription Factor 2 | 1,400
Kinase 1 | 634

Compartment GO Term

Mitochondrial pyruvate dehydro... 7 | 7
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 8,783 | 8,783
Membrane 8,530 | 8,530
Nucleus 7,563 | 7,563
Cytosol 6,686 | 6,686
Membrane part 6,553 | 6,553
Plasma membrane 5,829 | 5,829
Macromolecular complex 5,476 | 5,476
Intrinsic component of membran... 5,457 | 5,457
Cell periphery 5,381 | 5,381
Integral component of membrane 5,330 | 5,330
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... 3,974 | 3,974
non-membrane-bounded organelle 3,974 | 3,974
Nuclear lumen 3,968 | 3,968
Protein complex 3,673 | 3,673
Organelle membrane 2,846 | 2,846
Extracellular region 2,731 | 2,731
Plasma membrane part 2,593 | 2,593
Vesicle 2,342 | 2,342
Cytoplasmic vesicle 2,218 | 2,218
Intracellular vesicle 2,216 | 2,216
Cytoskeleton 2,108 | 2,108
Endoplasmic reticulum 2,001 | 2,001
Bounding membrane of organelle 1,956 | 1,956
Golgi apparatus 1,933 | 1,933
Intrinsic component of plasma ... 1,749 | 1,749
Integral component of plasma m... 1,693 | 1,693
Catalytic complex 1,642 | 1,642
Cytoskeletal part 1,638 | 1,638
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 971 | 971
Neuron part 970 | 970
Supramolecular polymer 968 | 968
Supramolecular complex 967 | 967
Cell junction 960 | 960
Supramolecular fiber 960 | 960
Golgi apparatus part 951 | 951
Nucleoli 942 | 942
Endosome 931 | 931
Nucleolus 927 | 927
Chromosomal part 889 | 889
GO:0098796 883 | 883
Ribonucleoprotein complex 864 | 864
Secretory granule 852 | 852
Cell projection part 850 | 850
Intracellular ribonucleoprotei... 849 | 849
Transferase complex 849 | 849
Cell surface 841 | 841
Plasma membrane region 841 | 841
Vesicle membrane 800 | 800
Cytoplasmic vesicle membrane 794 | 794
Polymeric cytoskeletal fiber 765 | 765
Mitochondrial envelope 746 | 746
Vacuole 732 | 732
Nuclear body 725 | 725
Golgi membrane 724 | 724
Microtubule organizing center 721 | 721
Extracellular matrix 713 | 713
Neuron projection 712 | 712
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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