Development Level

Tbio 7 | 11,445
Tdark 3 | 6,588

IMPC Phenotype

preweaning lethality, complete... 5 | 979
embryonic lethality prior to o... 2 | 239
embryonic lethality prior to t... 2 | 278
abnormal seminal vesicle morph... 1 | 114
bleb 1 | 2
decreased circulating HDL chol... 1 | 68
decreased eosinophil cell numb... 1 | 24
decreased startle reflex 1 | 75
enlarged heart 1 | 210
impaired glucose tolerance 1 | 75
prenatal lethality prior to he... 1 | 87

Disease

Autosomal recessive predisposition 5 | 1,442
Epilepsy 4 | 792
osteosarcoma 4 | 7,950
ovarian cancer 4 | 8,520
psoriasis 4 | 6,694
Carcinoma 3 | 11,493
Congenital disorder of glycosylation 3 | 54
Congenital muscular dystrophy 3 | 29
Creatine phosphokinase serum increased 3 | 110
Elevated creatine kinase 3 | 110
Muscular dystrophy 3 | 75
Seizures 3 | 596
Strabismus 3 | 270
Acquired scoliosis 2 | 281
Cerebellar Hypoplasia 2 | 61
Cognitive delay 2 | 608
Concave bridge of nose 2 | 195
Curvature of spine 2 | 282
Depressed nasal bridge 2 | 195
Depressed nasal root/bridge 2 | 195
Electroencephalogram abnormal 2 | 101
Elevated hepatic transaminases 2 | 81
Global developmental delay 2 | 608
Hepatic enzyme increased 2 | 81
Highly variable severity 2 | 157
Hypoplastic mandible condyle 2 | 275
Infantile onset 2 | 238
Isoelectric focusing of serum transferrin consistent with CDG type I 2 | 10
Liver Dysfunction 2 | 99
Liver enzymes abnormal 2 | 81
Liver function test increased 2 | 81
Liver function tests abnormal finding 2 | 81
Mandibular hypoplasia 2 | 275
Mental and motor retardation 2 | 608
Micrognathism 2 | 275
Multiple myeloma 2 | 1,332
Muscle Weakness 2 | 170
Muscle hypotonia 2 | 571
Nystagmus 2 | 317
Optic Atrophy 2 | 242
Paroxysmal nocturnal hemoglobinuria 2 | 10
Patent ductus arteriosus 2 | 90
Postnatal microcephaly 2 | 24
Subclinical abnormal liver function tests 2 | 81
Transaminases increased 2 | 81
Variable expressivity 2 | 157
group 3 medulloblastoma 2 | 4,104
lung cancer 2 | 4,740
non primary Sjogren syndrome sicca 2 | 891
pituitary cancer 2 | 1,972
Abdominal Pain 1 | 98
Abnormality of vision 1 | 40
Amyotrophic lateral sclerosis type 3 1 | 17
Anemia, Hemolytic 1 | 55
Antithrombin III deficiency 1 | 14
Arthralgia 1 | 90
Big calvaria 1 | 147
Budd-Chiari syndrome 1 | 12
Congenital Camptodactyly 1 | 40
Cystic kidney 1 | 30
Degenerative brain disorder 1 | 100
Dental abnormalities 1 | 60
Downward slant of palpebral fissure 1 | 158
Dyspnea 1 | 76
Early infantile epileptic encephalopathy with suppression bursts 1 | 10
Essential thrombocythemia 1 | 10
Fatigue 1 | 182
Flat back of the head 1 | 26
Gaucher's disease 1 | 26
Generalized osteopenia 1 | 99
Headache 1 | 37
Hemangioma 1 | 69
Hypercalciuria 1 | 27
Hyperopia 1 | 70
Increased calcium level in kidney 1 | 21
Increased head circumference 1 | 147
Increased size of cranium 1 | 147
Increased size of skull 1 | 147
Iridogoniodysgenesis syndrome 1 | 9
Juvenile Myelomonocytic Leukemia 1 | 21
Lassa fever 1 | 9
Leber congenital amaurosis 1 | 69
Lower limb hyperreflexia 1 | 10
Myelofibrosis 1 | 14
Nail dysplasia 1 | 52
Open mouth 1 | 45
Osteopenia 1 | 99
Polycythemia vera 1 | 27
Portal vein thrombosis 1 | 12
Protein C deficiency 1 | 19
Renal cyst 1 | 30
Respiratory distress 1 | 43
Somatic mutation 1 | 61
Spider Veins 1 | 17
Supratentorial atrophy 1 | 94
Telangiectasis 1 | 36
Thin upper lip vermilion 1 | 67
Thrombocytosis 1 | 38
Tooth Abnormalities 1 | 69
Tremor 1 | 113

Tissue

Blood and immune system 10 | 16,909
Cardiovascular System 10 | 15,192
Digestive Tract 10 | 17,369
Endocrine System 10 | 18,159
Female tissues 10 | 17,400
Liver and Pancreas 10 | 16,750
Male tissues 10 | 17,142
Nervous System 10 | 16,725
Respiratory system 10 | 16,393
Skin and soft tissues 10 | 17,230
Urinary Tract 10 | 16,678

Target Family

Enzyme 8 | 4,145
Non-IDG 2 | 12,091

Compartment GO Term

dolichol-phosphate-mannose syn... 10 | 10
cellular_component 18,320 | 18,320
Cell 16,178 | 16,178
Cell part 16,177 | 16,177
Intracellular 14,109 | 14,109
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 8,975 | 8,975
Intracellular organelle part 8,783 | 8,783
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 1,933 | 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 1,637 | 1,637
Extracellular region part 1,628 | 1,628
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 967 | 967
Supramolecular complex 966 | 966
Cell junction 960 | 960
Supramolecular fiber 959 | 959
Golgi apparatus part 951 | 951
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 712 | 712
Centrosome 696 | 696
Mitochondrial membrane 696 | 696
Receptor complex 686 | 686
Synapse 663 | 663
Lysosome 624 | 624
Lytic vacuole 624 | 624
Chromatin 565 | 565
Endosomal part 565 | 565

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