Development Level

Tbio 68 | 11,651
Tclin 48 | 612
Tdark 12 | 6,593
Tchem 5 | 1,388

IMPC Phenotype

preweaning lethality, complete... 22 | 979
embryonic lethality prior to o... 11 | 239
embryonic lethality prior to t... 9 | 278
abnormal behavior 4 | 298
abnormal embryo size 4 | 220
pallor 4 | 34
cataract 3 | 92
decreased vertical activity 3 | 208
abnormal kidney morphology 2 | 65
abnormal lens morphology 2 | 81
abnormal placenta size 2 | 20
abnormal skin coloration 2 | 25
embryonic growth retardation 2 | 106
hyperactivity 2 | 148
hypoactivity 2 | 132
increased bone mineral content 2 | 108
increased circulating alkaline... 2 | 122
abnormal allantois morphology 1 | 8
abnormal chorioallantoic fusio... 1 | 8
abnormal embryo development 1 | 7
abnormal embryo turning 1 | 31
abnormal embryonic autopod pla... 1 | 2
abnormal heart morphology 1 | 162
abnormal hindbrain development 1 | 16
abnormal limb bud morphology 1 | 17
abnormal liver size 1 | 5
abnormal midbrain development 1 | 20
abnormal neural tube closure 1 | 46
abnormal neural tube morpholog... 1 | 12
abnormal placenta development 1 | 1
abnormal placenta morphology 1 | 5
abnormal seminal vesicle morph... 1 | 114
abnormal tail movements 1 | 12
abnormal visceral yolk sac mor... 1 | 6
abnormal vitelline vasculature... 1 | 6
brachydactyly 1 | 19
cardiovascular system phenotyp... 1 | 36
decreased bone mineral content 1 | 151
decreased caudal vertebrae num... 1 | 53
decreased circulating bilirubi... 1 | 19
decreased circulating chloride... 1 | 30
decreased circulating choleste... 1 | 93
decreased circulating phosphat... 1 | 27
decreased circulating triglyce... 1 | 79
decreased erythrocyte cell num... 1 | 62
decreased hemoglobin content 1 | 68
decreased lactate dehydrogenas... 1 | 16
decreased lean body mass 1 | 135
decreased mean corpuscular hem... 1 | 50
decreased mean corpuscular vol... 1 | 79
decreased mean platelet volume 1 | 25
decreased prepulse inhibition 1 | 82
decreased total body fat amoun... 1 | 207
decreased total retina thickne... 1 | 17
enlarged heart atrium 1 | 4
hemorrhage 1 | 23
increased circulating calcium ... 1 | 34
increased circulating glucose ... 1 | 24
increased circulating phosphat... 1 | 26
increased circulating sodium l... 1 | 71
increased fasted circulating g... 1 | 76
increased grip strength 1 | 41
increased heart rate variabili... 1 | 7
increased heart weight 1 | 62
increased lean body mass 1 | 172
increased or absent threshold ... 1 | 101
pale liver 1 | 6
pale yolk sac 1 | 25
prenatal lethality 1 | 28
prenatal lethality prior to he... 1 | 87
short tibia 1 | 97
small adrenal glands 1 | 16
small lymph nodes 1 | 1
syndactyly 1 | 23
thrombocytosis 1 | 27

Disease

ovarian cancer 73 | 8,520
Multiple myeloma 53 | 1,332
Diabetes mellitus type 2 46 | 69
Treatment Refractory Type 2 Diabetes Mellitus 46 | 53
Carcinoma 38 | 11,493
osteosarcoma 38 | 7,950
Leigh disease 35 | 100
Cerebellar Ataxia 34 | 304
psoriasis 34 | 6,694
Autosomal recessive predisposition 30 | 1,442
Mitochondrial complex I deficiency 30 | 46
lung cancer 29 | 4,740
Acidosis, Lactic 28 | 97
Lactic acidemia 28 | 95
Sensorineural Hearing Loss (disorder) 27 | 284
astrocytic glioma 27 | 2,597
Blepharoptosis 26 | 231
Epilepsy 26 | 792
glioblastoma 25 | 5,792
Cognitive delay 24 | 608
Global developmental delay 24 | 608
Mental and motor retardation 24 | 608
Seizures 24 | 596
medulloblastoma, large-cell 24 | 6,241
pancreatic ductal adenocarcinoma liver metastasis 24 | 1,962
Failure to gain weight 23 | 365
Pediatric failure to thrive 23 | 365
ependymoma 23 | 4,679
Muscle hypotonia 22 | 571
Nystagmus 22 | 317
Optic Atrophy 22 | 242
atypical teratoid / rhabdoid tumor 22 | 5,112
Dystonia 21 | 164
Increased serum lactate 21 | 60
Dystonic disease 20 | 106
Developmental regression 19 | 95
Highly variable clinical phenotype 19 | 150
Highly variable phenotype and severity 19 | 150
Highly variable phenotype, even within families 19 | 150
Hyperreflexia 19 | 209
Leigh syndrome 19 | 28
Loss of developmental milestones 19 | 95
Mental deterioration in childhood 19 | 95
Mitochondrial Complex 1 Deficiency 19 | 28
Muscle Weakness 19 | 170
Neurodevelopmental regression 19 | 95
Phenotypic variability 19 | 150
Psychomotor regression 19 | 95
Psychomotor regression beginning in infancy 19 | 95
Psychomotor regression in infants 19 | 95
Psychomotor regression, progressive 19 | 95
Strabismus 19 | 270
oligodendroglioma 19 | 2,850
CSF lactate increased 18 | 33
Muscle Spasticity 18 | 195
diabetes mellitus 18 | 1,728
Breast cancer 17 | 3,578
Ophthalmoplegia 17 | 106
Respiratory Failure 17 | 104
Waldenstrons macroglobulinemia 17 | 765
Abnormal mitochondria in muscle tissue 16 | 20
Dull intelligence 16 | 645
Hypertrophic Cardiomyopathy 16 | 117
Intellectual disability 16 | 1,016
Low intelligence 16 | 645
Mental Retardation 16 | 645
Mental deficiency 16 | 645
NADH:Q(1) Oxidoreductase deficiency 16 | 24
Poor school performance 16 | 645
Impaired exercise tolerance 14 | 42
Pick disease 14 | 1,894
Retinitis Pigmentosa 14 | 226
adult high grade glioma 14 | 3,801
Mitochondrial myopathy 13 | 26
intraductal papillary-mucinous neoplasm (IPMN) 13 | 3,291
Babinski Reflex 12 | 100
Blind Vision 12 | 111
Blindness, Legal 12 | 110
Growth delay 12 | 114
Growth failure 12 | 114
Growth retardation 12 | 115
Hypoglycemia 12 | 152
Poor growth 12 | 114
Short stature 12 | 531
Very poor growth 12 | 114
X-linked dominant 12 | 57
Decreased tendon reflex 11 | 122
Feeding difficulties in infancy 11 | 175
Leber hereditary optic neuropathy 11 | 14
Myopathy 11 | 185
Neurogenic Muscular Atrophy 11 | 139
Neurogenic muscle atrophy, especially in the lower limbs 11 | 139
Ragged-red fibers 11 | 21
Skeletal muscle atrophy 11 | 139
Vomiting 11 | 116
muscle degeneration 11 | 139
primitive neuroectodermal tumor 11 | 3,035
Dementia 10 | 175
astrocytoma 10 | 1,146
breast carcinoma 10 | 1,638

Tissue

Blood and immune system 132 | 16,909
Endocrine System 132 | 18,159
Male tissues 132 | 17,142
Urinary Tract 132 | 16,678
Digestive Tract 131 | 17,369
Female tissues 131 | 17,400
Nervous System 130 | 16,725
Skin and soft tissues 130 | 17,230
Liver and Pancreas 128 | 16,750
Cardiovascular System 127 | 15,192
Respiratory system 127 | 16,393

Target Family

Enzyme 120 | 4,145
Non-IDG 10 | 12,091
Transporter 3 | 473

KEGG Pathway

Oxidative phosphorylation 133 | 133
Metabolic pathways 1,263 | 1,263
Pathways in cancer 530 | 530
Olfactory transduction 414 | 414
Human papillomavirus infection 388 | 388
PI3K-Akt signaling pathway 349 | 349
HTLV-I infection 336 | 336
Endocytosis 310 | 310
MAPK signaling pathway 295 | 295
Epstein-Barr virus infection 280 | 280
Neuroactive ligand-receptor in... 276 | 276
Cytokine-cytokine receptor int... 267 | 267
Herpes simplex infection 262 | 262
Kaposi's sarcoma-associated he... 252 | 252
Viral carcinogenesis 251 | 251
Thermogenesis 232 | 232
Ras signaling pathway 230 | 230
Phagosome 229 | 229
Cellular senescence 228 | 228
Cell adhesion molecules (CAMs) 225 | 225
Rap1 signaling pathway 209 | 209
Regulation of actin cytoskelet... 207 | 207
cAMP signaling pathway 201 | 201
Focal adhesion 198 | 198
Proteoglycans in cancer 198 | 198
Natural killer cell mediated c... 197 | 197
Huntington's disease 194 | 194
Tuberculosis 189 | 189
Calcium signaling pathway 183 | 183
Chemokine signaling pathway 183 | 183
Influenza A 182 | 182
Axon guidance 174 | 174
Purine metabolism 172 | 172
Alzheimer's disease 171 | 171
Transcriptional misregulation ... 171 | 171
Tight junction 169 | 169
Hepatocellular carcinoma 168 | 168
NOD-like receptor signaling pa... 166 | 166
Protein processing in endoplas... 164 | 164
RNA transport 163 | 163
cGMP-PKG signaling pathway 162 | 162
Jak-STAT signaling pathway 161 | 161
Cushing's syndrome 158 | 158
Antigen processing and present... 156 | 156
Hippo signaling pathway 154 | 154
Necroptosis 154 | 154
Oxytocin signaling pathway 154 | 154
MicroRNAs in cancer 150 | 150
mTOR signaling pathway 150 | 150
Non-alcoholic fatty liver dise... 149 | 149
Gastric cancer 148 | 148
Retrograde endocannabinoid sig... 148 | 148
Adrenergic signaling in cardio... 147 | 147
Alcoholism 147 | 147
Breast cancer 147 | 147
Phospholipase D signaling path... 147 | 147
Wnt signaling pathway 145 | 145
Hepatitis B 143 | 143
Parkinson's disease 142 | 142
Estrogen signaling pathway 139 | 139
Apoptosis 138 | 138
Fluid shear stress and atheros... 138 | 138
Signaling pathways regulating ... 138 | 138
Insulin signaling pathway 137 | 137
Ubiquitin mediated proteolysis 137 | 137
Viral myocarditis 137 | 137
Apelin signaling pathway 136 | 136
Dopaminergic synapse 135 | 135
Ribosome 134 | 134
Measles 133 | 133
Relaxin signaling pathway 133 | 133
Spliceosome 132 | 132
Autoimmune thyroid disease 130 | 130
FoxO signaling pathway 130 | 130
Hepatitis C 130 | 130
Autophagy - animal 128 | 128
Osteoclast differentiation 127 | 127
Cell cycle 125 | 125
Platelet activation 125 | 125
Toxoplasmosis 125 | 125
Lysosome 123 | 123
Vascular smooth muscle contrac... 123 | 123
Type I diabetes mellitus 122 | 122
Oocyte meiosis 121 | 121
AMPK signaling pathway 120 | 120
Graft-versus-host disease 120 | 120
Neurotrophin signaling pathway 119 | 119
Th17 cell differentiation 119 | 119
Sphingolipid signaling pathway 118 | 118
Allograft rejection 116 | 116
Carbon metabolism 116 | 116
Glutamatergic synapse 116 | 116
Thyroid hormone signaling path... 116 | 116
Serotonergic synapse 114 | 114
Leukocyte transendothelial mig... 112 | 112
Cholinergic synapse 111 | 111
Hematopoietic cell lineage 108 | 108
Systemic lupus erythematosus 108 | 108
TNF signaling pathway 108 | 108
Insulin resistance 107 | 107

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