Development Level

Tbio 12 | 11,651
Tdark 9 | 6,593
Tchem 1 | 1,388

IMPC Phenotype

preweaning lethality, complete... 5 | 979
decreased hematocrit 2 | 46
decreased hemoglobin content 2 | 68
embryonic lethality prior to o... 2 | 239
embryonic lethality prior to t... 2 | 278
enlarged heart 2 | 210
abnormal coat-hair pigmentatio... 1 | 64
abnormal heart morphology 1 | 162
abnormal seminal vesicle morph... 1 | 114
bleb 1 | 2
decreased circulating free fat... 1 | 31
decreased eosinophil cell numb... 1 | 24
decreased erythrocyte cell num... 1 | 62
decreased startle reflex 1 | 75
impaired glucose tolerance 1 | 75
increased monocyte cell number 1 | 63
long tibia 1 | 25
prenatal lethality prior to he... 1 | 87
preweaning lethality, incomple... 1 | 499

Disease

Carcinoma 13 | 11,493
osteosarcoma 11 | 7,950
ovarian cancer 10 | 8,520
Autosomal recessive predisposition 9 | 1,442
Congenital disorder of glycosylation 8 | 54
Seizures 8 | 596
Epilepsy 7 | 792
glioblastoma 7 | 5,792
Cognitive delay 6 | 608
Global developmental delay 6 | 608
Mental and motor retardation 6 | 608
Muscle hypotonia 6 | 571
Optic Atrophy 6 | 242
Small head 6 | 374
Strabismus 6 | 270
psoriasis 6 | 6,694
Congenital muscular dystrophy 5 | 29
Creatine phosphokinase serum increased 5 | 110
Elevated creatine kinase 5 | 110
Muscular dystrophy 5 | 75
medulloblastoma, large-cell 5 | 6,241
Astrocytoma, Pilocytic 4 | 3,081
Breast cancer 4 | 3,578
Highly variable severity 4 | 157
Intellectual disability 4 | 1,016
Isoelectric focusing of serum transferrin consistent with CDG type I 4 | 10
Variable expressivity 4 | 157
lung cancer 4 | 4,740
lung carcinoma 4 | 2,843
malignant mesothelioma 4 | 3,232
Abnormality of vision 3 | 40
Absent speech 3 | 43
Acquired scoliosis 3 | 281
Cataract 3 | 297
Cerebellar Hypoplasia 3 | 61
Cerebral atrophy 3 | 178
Congenital joint contractures 3 | 9
Contracture 3 | 96
Contracture of joint 3 | 93
Curvature of spine 3 | 282
Dull intelligence 3 | 645
Electroencephalogram abnormal 3 | 101
Failure to gain weight 3 | 365
Flexion contracture 3 | 93
Flexion contractures of joints 3 | 93
Globe of eye large 3 | 20
Hypoplastic mandible condyle 3 | 275
Hypotonia, severe 3 | 33
Impaired cognition 3 | 96
Infantile onset 3 | 238
Lens Opacities 3 | 231
Lissencephaly 3 | 69
Low intelligence 3 | 645
Mandibular hypoplasia 3 | 275
Mental Retardation 3 | 645
Mental deficiency 3 | 645
Mental impairment 3 | 95
Microcephaly 3 | 166
Micrognathism 3 | 275
Motor delay 3 | 147
Multiple myeloma 3 | 1,332
Muscle Hypertonia 3 | 88
Muscle biopsy shows dystrophic changes 3 | 39
Myopathy 3 | 185
No development of motor milestones 3 | 147
Nystagmus 3 | 317
Pediatric failure to thrive 3 | 365
Poor school performance 3 | 645
Prenatal onset 3 | 139
Severe mental retardation (I.Q. 20-34) 3 | 99
Walker-Warburg syndrome 3 | 20
atypical teratoid / rhabdoid tumor 3 | 5,112
ependymoma 3 | 4,679
intraductal papillary-mucinous adenoma (IPMA) 3 | 2,955
non primary Sjogren syndrome sicca 3 | 891
nonverbal 3 | 43
pituitary cancer 3 | 1,972
tuberculosis 3 | 2,010
Congenital ocular coloboma (disorder) 2 | 40
Congenital small ears 2 | 48
Corneal Opacity 2 | 53
Elevated hepatic transaminases 2 | 81
Highly variable clinical phenotype 2 | 150
Highly variable phenotype and severity 2 | 150
Highly variable phenotype, even within families 2 | 150
Hydrophthalmos 2 | 19
Liver function test increased 2 | 81
Low Vision 2 | 174
Macroglossia 2 | 65
Myopia 2 | 176
Phenotypic variability 2 | 150
Profound Mental Retardation 2 | 31
Retinal Degeneration 2 | 106
Retinal Detachment 2 | 51
Retinal Dysplasia 2 | 11
Speech Disorders 2 | 58
Subclinical abnormal liver function tests 2 | 81
Transaminases increased 2 | 81
Walker-Warburg congenital muscular dystrophy 2 | 14
limb-girdle muscular dystrophy 2 | 37

Tissue

Blood and immune system 22 | 16,909
Cardiovascular System 22 | 15,192
Digestive Tract 22 | 17,369
Endocrine System 22 | 18,159
Female tissues 22 | 17,400
Liver and Pancreas 22 | 16,750
Male tissues 22 | 17,142
Nervous System 22 | 16,725
Respiratory system 22 | 16,393
Skin and soft tissues 22 | 17,230
Urinary Tract 22 | 16,678

Target Family

Enzyme 19 | 4,145
Non-IDG 2 | 12,091
Kinase 1 | 634

Compartment GO Term

Mannosyltransferase complex 22 | 22
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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