Development Level

Tclin 45 | 613
Tbio 1 | 11,445

IMPC Phenotype

preweaning lethality, complete... 8 | 979
cataract 2 | 92
embryonic lethality prior to o... 2 | 239
abnormal allantois morphology 1 | 8
abnormal behavior 1 | 298
abnormal chorioallantoic fusio... 1 | 8
abnormal embryo development 1 | 7
abnormal embryo size 1 | 220
abnormal embryo turning 1 | 31
abnormal heart morphology 1 | 162
abnormal lens morphology 1 | 81
abnormal neural tube morpholog... 1 | 12
abnormal tail movements 1 | 12
abnormal visceral yolk sac mor... 1 | 6
abnormal vitelline vasculature... 1 | 6
decreased circulating choleste... 1 | 93
decreased circulating triglyce... 1 | 79
decreased erythrocyte cell num... 1 | 62
decreased lactate dehydrogenas... 1 | 16
decreased total retina thickne... 1 | 17
decreased vertical activity 1 | 208
embryonic growth retardation 1 | 106
embryonic lethality prior to t... 1 | 278
hemorrhage 1 | 23
hypoactivity 1 | 132
increased circulating calcium ... 1 | 34
increased circulating phosphat... 1 | 26
increased grip strength 1 | 41
increased heart weight 1 | 62
increased lean body mass 1 | 172
pale yolk sac 1 | 25
pallor 1 | 34

Disease

Diabetes mellitus type 2 45 | 69
Treatment Refractory Type 2 Diabetes Mellitus 45 | 53
Mitochondrial complex I deficiency 30 | 46
ovarian cancer 30 | 8,520
Leigh disease 25 | 100
Multiple myeloma 24 | 1,332
Cerebellar Ataxia 21 | 304
Mitochondrial Complex 1 Deficiency 21 | 28
Acidosis, Lactic 19 | 97
Blepharoptosis 19 | 231
Lactic acidemia 19 | 95
Sensorineural Hearing Loss (disorder) 19 | 284
Epilepsy 18 | 792
NADH:Q(1) Oxidoreductase deficiency 18 | 24
Failure to gain weight 17 | 365
Nystagmus 17 | 317
Pediatric failure to thrive 17 | 365
Seizures 17 | 596
Strabismus 17 | 270
Abnormal mitochondria in muscle tissue 16 | 20
Autosomal recessive predisposition 16 | 1,442
CSF lactate increased 16 | 33
Cognitive delay 16 | 608
Global developmental delay 16 | 608
Highly variable clinical phenotype 16 | 150
Highly variable phenotype and severity 16 | 150
Highly variable phenotype, even within families 16 | 150
Hyperreflexia 16 | 209
Mental and motor retardation 16 | 608
Muscle Spasticity 16 | 195
Muscle hypotonia 16 | 571
Phenotypic variability 16 | 150
Respiratory Failure 16 | 104
Developmental regression 15 | 95
Loss of developmental milestones 15 | 95
Mental deterioration in childhood 15 | 95
Muscle Weakness 15 | 170
Neurodevelopmental regression 15 | 95
Psychomotor regression 15 | 95
Psychomotor regression beginning in infancy 15 | 95
Psychomotor regression in infants 15 | 95
Psychomotor regression, progressive 15 | 95
Leigh syndrome 14 | 28
Dystonia 13 | 164
X-linked dominant 13 | 57
Acute necrotizing encephalopathy 12 | 14
Atrophy of cerebellum 12 | 103
Babinski Reflex 12 | 100
Blind Vision 12 | 111
Blindness, Legal 12 | 110
Brain Edema 12 | 50
Cerebellar degeneration 12 | 103
Cerebral Edema 12 | 30
Comatose 12 | 56
Decreased tendon reflex 12 | 122
Dystonic disease 12 | 106
Feeding difficulties in infancy 12 | 175
Growth delay 12 | 114
Growth failure 12 | 114
Growth retardation 12 | 115
Hypertrophic Cardiomyopathy 12 | 117
Hypoglycemia 12 | 152
Impaired exercise tolerance 12 | 42
Infratentorial atrophy 12 | 103
Lethargy 12 | 77
Leukodystrophy 12 | 55
Liver Failure 12 | 73
Neurogenic Muscular Atrophy 12 | 139
Neurogenic muscle atrophy, especially in the lower limbs 12 | 139
Optic Atrophy 12 | 242
Pallor of optic disc 12 | 39
Poor growth 12 | 114
Progressive macrocephaly 12 | 18
Skeletal muscle atrophy 12 | 139
Very poor growth 12 | 114
Vomiting 12 | 116
muscle degeneration 12 | 139
osteosarcoma 11 | 7,950
Increased serum lactate 10 | 60
astrocytic glioma 10 | 2,597
pancreatic ductal adenocarcinoma liver metastasis 10 | 1,962
Ophthalmoplegia 9 | 106
lung cancer 9 | 4,740
Mitochondrial myopathy 8 | 26
Retinitis Pigmentosa 8 | 226
Abnormal respiratory patterns 7 | 20
Central nervous system demyelination 7 | 28
Dull intelligence 7 | 645
Dysarthria 7 | 192
Gliosis 7 | 56
Hepatocellular necrosis 7 | 14
Hypertrichosis 7 | 46
Infantile onset 7 | 238
Low intelligence 7 | 645
Mental Retardation 7 | 645
Mental deficiency 7 | 645
Mood swings 7 | 77
Poor school performance 7 | 645
Progressive disorder 7 | 142
psoriasis 7 | 6,694

Tissue

Blood and immune system 46 | 16,909
Cardiovascular System 46 | 15,192
Digestive Tract 46 | 17,369
Endocrine System 46 | 18,159
Female tissues 46 | 17,400
Liver and Pancreas 46 | 16,750
Male tissues 46 | 17,142
Nervous System 46 | 16,725
Respiratory system 46 | 16,393
Skin and soft tissues 46 | 17,230
Urinary Tract 46 | 16,678

Target Family

Enzyme 44 | 4,145
Non-IDG 2 | 12,091

GO Component

mitochondrial respiratory chai... 46 | 46
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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