Development Level

Tbio 4 | 11,445
Tdark 4 | 6,588

IMPC Phenotype

preweaning lethality, complete... 3 | 979
decreased circulating HDL chol... 1 | 68
decreased eosinophil cell numb... 1 | 24
embryonic lethality prior to o... 1 | 239
embryonic lethality prior to t... 1 | 278
enlarged heart 1 | 210
impaired glucose tolerance 1 | 75

Disease

Epilepsy 3 | 792
lung cancer 3 | 4,740
osteosarcoma 3 | 7,950
ovarian cancer 3 | 8,520
Byzanthine arch palate 2 | 194
Cerebellar Hypoplasia 2 | 61
Congenital muscular dystrophy 2 | 29
Death in early childhood 2 | 82
Death in infancy 2 | 82
Hypoplastic mandible condyle 2 | 275
Mandibular hypoplasia 2 | 275
Micrognathism 2 | 275
Paroxysmal nocturnal hemoglobinuria 2 | 10
Postnatal microcephaly 2 | 24
psoriasis 2 | 6,694
Absence of septum pellucidum 1 | 13
Absent speech 1 | 43
Acute conjunctivitis 1 | 4
Amyotrophic lateral sclerosis type 3 1 | 17
Anemia 1 | 365
Anemia, Hemolytic 1 | 55
Atrial Septal Defects 1 | 85
Axial hypotonia 1 | 46
Beriberi 1 | 12
Big calvaria 1 | 147
Blindness, Cortical 1 | 24
Bone marrow hypocellularity 1 | 20
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu 1 | 1
Cerebral atrophy 1 | 178
Coarse facial features 1 | 108
Congenital deafness 1 | 185
Congenital disorder of glycosylation 1 | 54
Congenital disorder of glycosylation type 1u 1 | 1
Congenital joint contractures 1 | 9
Congenital myasthenic syndrome 1 | 25
Contracture 1 | 96
Contracture of joint 1 | 93
Cortical visual impairment 1 | 24
Creatine phosphokinase serum increased 1 | 110
Deafness 1 | 198
Decreased size of teeth 1 | 62
Decreased width of tooth 1 | 59
Delayed myelination 1 | 22
Downturned corners of mouth 1 | 48
Early infantile epileptic encephalopathy with suppression bursts 1 | 10
Elevated creatine kinase 1 | 110
Embolism and Thrombosis 1 | 6
Epilepsies, Myoclonic 1 | 32
Epileptic encephalopathy 1 | 26
Flexion contracture 1 | 93
Flexion contractures of joints 1 | 93
Gastroparesis 1 | 22
Generalized myoclonic seizures 1 | 30
Hearing Loss, Partial 1 | 185
Hyperreflexia 1 | 209
Hypoplasia of corpus callosum 1 | 90
Hypotonia, severe 1 | 33
Hypotrophic malar bone 1 | 129
Hypsarrhythmia 1 | 25
Increased head circumference 1 | 147
Increased size of cranium 1 | 147
Increased size of skull 1 | 147
Iridogoniodysgenesis syndrome 1 | 9
Large bregma sutures 1 | 46
Large fontanelle 1 | 46
Large for gestational age 1 | 11
Large, late-closing fontanelle 1 | 46
Lassa fever 1 | 9
Lice infestation 1 | 15
Malar flattening 1 | 129
Microdontia (disorder) 1 | 59
Micronychia (disorder) 1 | 24
Microstomia 1 | 78
Myoclonic Epilepsies, Progressive 1 | 44
Myopathic facies 1 | 13
Neuroleptic malignant syndrome 1 | 9
Neuronal loss 1 | 25
Ohtahara syndrome 1 | 2
Overfolded helix 1 | 24
Prenatal onset 1 | 139
Primary angle-closure glaucoma 1 | 14
Primitive reflexes (palmomental, snout, glabellar) 1 | 7
Prominent back of the head 1 | 21
Prominent occiput 1 | 21
Proteinuria 1 | 144
Simpson-Golabi-Behmel syndrome 1 | 19
Somatic mutation 1 | 61
Thickened facial skin with coarse facial features 1 | 108
Thin upper lip vermilion 1 | 67
Thromboembolism 1 | 15
Thrombophilia 1 | 38
Triangular mouth 1 | 6
Ulnar neuropathy 1 | 8
West Syndrome 1 | 28
Wide bregma sutures 1 | 46
Widely spaced teeth 1 | 31
X- linked recessive 1 | 110
hearing impairment 1 | 199
interstitial lung disease 1 | 298
nonverbal 1 | 43

Tissue

Digestive Tract 8 | 17,369
Blood and immune system 7 | 16,909
Cardiovascular System 7 | 15,192
Endocrine System 7 | 18,159
Female tissues 7 | 17,400
Liver and Pancreas 7 | 16,750
Male tissues 7 | 17,142
Nervous System 7 | 16,725
Respiratory system 7 | 16,393
Skin and soft tissues 7 | 17,230
Urinary Tract 7 | 16,678

Target Family

Enzyme 6 | 4,145
Non-IDG 2 | 12,091

GO Component

glycosylphosphatidylinositol-N... 8 | 8
nucleus 5,097 | 5,097
cytosol 4,834 | 4,834
plasma membrane 4,414 | 4,414
cytoplasm 4,094 | 4,094
integral component of membrane 3,665 | 3,665
nucleoplasm 2,996 | 2,996
extracellular exosome 2,767 | 2,767
membrane 1,917 | 1,917
extracellular region 1,833 | 1,833
integral component of plasma m... 1,418 | 1,418
extracellular space 1,380 | 1,380
mitochondrion 1,281 | 1,281
endoplasmic reticulum 938 | 938
Golgi apparatus 904 | 904
endoplasmic reticulum membrane 879 | 879
nucleolus 824 | 824
Golgi membrane 676 | 676
perinuclear region of cytoplas... 644 | 644
cell surface 608 | 608
intracellular membrane-bounded... 593 | 593
intracellular 566 | 566
protein complex 552 | 552
cell junction 502 | 502
mitochondrial inner membrane 432 | 432
centrosome 427 | 427
focal adhesion 387 | 387
nuclear speck 371 | 371
mitochondrial matrix 354 | 354
cytoskeleton 352 | 352
dendrite 330 | 330
neuronal cell body 325 | 325
lysosomal membrane 301 | 301
microtubule 298 | 298
apical plasma membrane 292 | 292
endoplasmic reticulum lumen 291 | 291
extracellular matrix 267 | 267
proteinaceous extracellular ma... 267 | 267
nuclear body 266 | 266
axon 250 | 250
external side of plasma membra... 247 | 247
endosome 239 | 239
nuclear membrane 239 | 239
neuron projection 235 | 235
early endosome 234 | 234
lysosome 222 | 222
cytoplasmic vesicle 217 | 217
membrane raft 215 | 215
postsynaptic membrane 210 | 210
early endosome membrane 203 | 203
postsynaptic density 202 | 202
endosome membrane 197 | 197
actin cytoskeleton 196 | 196
basolateral plasma membrane 184 | 184
nuclear chromatin 184 | 184
blood microparticle 175 | 175
synapse 172 | 172
transcription factor complex 172 | 172
cilium 171 | 171
lamellipodium 168 | 168
mitochondrial outer membrane 163 | 163
nuclear envelope 160 | 160
microtubule organizing center 153 | 153
cell-cell junction 149 | 149
myelin sheath 144 | 144
midbody 141 | 141
phagocytic vesicle membrane 138 | 138
recycling endosome membrane 138 | 138
microtubule cytoskeleton 134 | 134
vesicle 134 | 134
cytoplasmic vesicle membrane 133 | 133
ER to Golgi transport vesicle ... 132 | 132
receptor complex 132 | 132
trans-Golgi network 131 | 131
fibrillar center 128 | 128
centriole 124 | 124
ficolin-1-rich granule lumen 124 | 124
late endosome membrane 122 | 122
intracellular ribonucleoprotei... 121 | 121
Z disc 119 | 119
bicellular tight junction 119 | 119
late endosome 119 | 119
cell cortex 118 | 118
dendritic spine 118 | 118
growth cone 116 | 116
secretory granule lumen 116 | 116
spindle 116 | 116
spindle pole 115 | 115
chromosome 114 | 114
perikaryon 114 | 114
recycling endosome 109 | 109
anchored component of membrane 108 | 108
endomembrane system 108 | 108
integral component of lumenal ... 108 | 108
ciliary basal body 105 | 105
nuclear matrix 105 | 105
integral component of endoplas... 103 | 103
secretory granule membrane 103 | 103
Golgi lumen 101 | 101
melanosome 101 | 101
ubiquitin ligase complex 100 | 100

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