Development Level

Tbio 4 | 11,445
Tdark 1 | 6,588

IMPC Phenotype

abnormal retina morphology 1 | 71
embryonic lethality prior to o... 1 | 239
embryonic lethality prior to t... 1 | 278
increased circulating potassiu... 1 | 29
preweaning lethality, complete... 1 | 979

Disease

Cockayne syndrome 4 | 60
Photosensitive trichothiodystrophy 4 | 30
ovarian cancer 4 | 8,520
Carcinoma 3 | 11,493
Trichothiodystrophy 1, photosensitive 3 | 4
Trichothiodystrophy Syndromes 3 | 6
Xeroderma pigmentosum 3 | 43
lung cancer 3 | 4,740
Abnormally small eyeball 2 | 97
Arteriosclerosis 2 | 11
Arthralgia 2 | 90
Atrophic condition of skin 2 | 25
Autosomal recessive predisposition 2 | 1,442
Basal cell carcinoma 2 | 54
Basal cell nevi 2 | 23
Brittle hair 2 | 25
Cachexia 2 | 50
Cataract 2 | 297
Cerebellar Ataxia 2 | 304
Congenital Nonbullous Ichthyosiform Erythroderma 2 | 16
Congenital deafness 2 | 185
Conjunctival telangiectasis 2 | 14
Cryptorchidism 2 | 296
Deafness 2 | 198
Decreased size of eyeball 2 | 97
Dental abnormalities 2 | 60
Developmental regression 2 | 95
Dry skin 2 | 75
Dull intelligence 2 | 645
Electroencephalogram abnormal 2 | 101
Erythema 2 | 58
Failure to gain weight 2 | 365
Fatigue 2 | 182
Fever 2 | 138
Flushing 2 | 60
Fractured hair 2 | 25
Fragile hair 2 | 25
Freckles 2 | 33
Hardened artery wall 2 | 6
Hearing Loss, Partial 2 | 185
Hydrocephalus 2 | 152
Hyperkeratosis 2 | 50
Hyperpigmented macules 2 | 42
Hypogonadism 2 | 173
Impaired cognition 2 | 96
Intellectual disability 2 | 1,016
Keratitis 2 | 62
Lens Opacities 2 | 231
Loss of developmental milestones 2 | 95
Low intelligence 2 | 645
Melanoma 2 | 711
Mental Retardation 2 | 645
Mental deficiency 2 | 645
Mental deterioration in childhood 2 | 95
Mental impairment 2 | 95
Microphthalmos 2 | 100
Muscle Spasticity 2 | 195
Neurodevelopmental regression 2 | 95
Numerous pigmented freckles 2 | 4
Optic Atrophy 2 | 242
Papilloma 2 | 44
Pediatric failure to thrive 2 | 365
Peripheral demyelinating neuropathy 2 | 7
Photosensitivity of skin 2 | 51
Pick disease 2 | 1,894
Poikiloderma 2 | 14
Poor school performance 2 | 645
Precociously senile appearance 2 | 18
Progressive mental retardation 2 | 37
Psychomotor regression 2 | 95
Psychomotor regression beginning in infancy 2 | 95
Psychomotor regression in infants 2 | 95
Psychomotor regression, progressive 2 | 95
Reduced tensile strength of hair 2 | 25
Retinal Diseases 2 | 55
Sensorineural Hearing Loss (disorder) 2 | 284
Short stature 2 | 531
Small head 2 | 374
Squamous cell carcinoma of skin 2 | 11
Strabismus 2 | 270
Telangiectasia of the skin 2 | 39
Thin skin 2 | 47
Tooth Abnormalities 2 | 69
Xeroderma pigmentosum group B 2 | 20
Xeroderma pigmentosum group D 2 | 33
Xeroderma pigmentosum group G 2 | 16
Xeroderma pigmentosum-Cockayne syndrome complex 2 | 4
Xerosis 2 | 75
glioblastoma 2 | 5,792
hearing impairment 2 | 199
hypopigmented skin patch 2 | 59
medulloblastoma, large-cell 2 | 6,241
osteosarcoma 2 | 7,950
Decreased nerve conduction velocity 1 | 35
Enophthalmos 1 | 75
Joint stiffness 1 | 84
Mental deterioration 1 | 32
Squamous cell carcinoma 1 | 129
Sunken eyes 1 | 63
Telangiectasis 1 | 36

Tissue

Blood and immune system 5 | 16,909
Cardiovascular System 5 | 15,192
Digestive Tract 5 | 17,369
Endocrine System 5 | 18,159
Female tissues 5 | 17,400
Liver and Pancreas 5 | 16,750
Male tissues 5 | 17,142
Nervous System 5 | 16,725
Respiratory system 5 | 16,393
Skin and soft tissues 5 | 17,230
Urinary Tract 5 | 16,678

Target Family

Non-IDG 3 | 12,091
Enzyme 2 | 4,145

GO Component

core TFIIH complex 5 | 5
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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