Development Level

Tbio 17 | 11,445
Tdark 3 | 6,588
Tchem 2 | 1,598

IMPC Phenotype

abnormal behavior 1 | 298
abnormal embryo size 1 | 220
abnormal pericardium morpholog... 1 | 26
decreased circulating insulin ... 1 | 76
decreased threshold for audito... 1 | 26
embryonic growth retardation 1 | 106
embryonic lethality prior to t... 1 | 278
hypoactivity 1 | 132
preweaning lethality, incomple... 1 | 499

Disease

Carcinoma 15 | 11,493
ovarian cancer 15 | 8,520
osteosarcoma 13 | 7,950
glioblastoma 9 | 5,792
psoriasis 8 | 6,694
adult high grade glioma 6 | 3,801
ependymoma 6 | 4,679
lung cancer 6 | 4,740
medulloblastoma, large-cell 6 | 6,241
Astrocytoma, Pilocytic 5 | 3,081
Autosomal recessive predisposition 5 | 1,442
group 4 medulloblastoma 5 | 1,855
interstitial cystitis 5 | 2,312
intraductal papillary-mucinous neoplasm (IPMN) 5 | 3,291
lung carcinoma 5 | 2,843
malignant mesothelioma 5 | 3,232
Cognitive delay 4 | 608
Global developmental delay 4 | 608
Intellectual disability 4 | 1,016
Mental and motor retardation 4 | 608
atypical teratoid / rhabdoid tumor 4 | 5,112
cystic fibrosis 4 | 1,696
intraductal papillary-mucinous carcinoma (IPMC) 4 | 2,989
lung adenocarcinoma 4 | 2,716
subependymal giant cell astrocytoma 4 | 2,287
tuberculosis 4 | 2,010
Acquired scoliosis 3 | 281
Breast cancer 3 | 3,578
Cataract 3 | 297
Cleft Lip 3 | 141
Congenital disorder of glycosylation 3 | 54
Creatine phosphokinase serum increased 3 | 110
Curvature of spine 3 | 282
Dandy-Walker Syndrome 3 | 39
Elevated creatine kinase 3 | 110
Epilepsy 3 | 792
Hydrocephalus 3 | 152
Lens Opacities 3 | 231
Muscle hypotonia 3 | 571
Myopathy 3 | 185
Myopia 3 | 176
Pick disease 3 | 1,894
Walker-Warburg syndrome 3 | 20
acute quadriplegic myopathy 3 | 1,158
astrocytoma 3 | 1,146
diabetes mellitus 3 | 1,728
intraductal papillary-mucinous adenoma (IPMA) 3 | 2,955
invasive ductal carcinoma 3 | 2,951
limb-girdle muscular dystrophy 3 | 37
oligodendroglioma 3 | 2,850
pancreatic ductal adenocarcinoma liver metastasis 3 | 1,962
pituitary cancer 3 | 1,972
primary Sjogren syndrome 3 | 735
Abnormality of the voice 2 | 46
Amyotrophic lateral sclerosis 2 | 451
Bell Palsy 2 | 58
Blind Vision 2 | 111
Blindness, Legal 2 | 110
Cobblestone Lissencephaly 2 | 8
Congenital joint contractures 2 | 9
Congenital keratoglobus 2 | 14
Congenital muscular dystrophy 2 | 29
Congenital ocular coloboma (disorder) 2 | 40
Congenital small ears 2 | 48
Contracture 2 | 96
Contracture of joint 2 | 93
Corneal Opacity 2 | 53
Electroencephalogram abnormal 2 | 101
Electromyogram abnormal 2 | 49
Facial Paresis 2 | 59
Flexion contracture 2 | 93
Globe of eye large 2 | 20
Highly variable clinical phenotype 2 | 150
Highly variable phenotype and severity 2 | 150
Highly variable phenotype, even within families 2 | 150
Hydrophthalmos 2 | 19
Hypoplasia of corpus callosum 2 | 90
Hypoplasia of the optic nerve 2 | 17
Impaired cognition 2 | 96
Infantile onset 2 | 238
Irido-corneo-trabecular dysgenesis (disorder) 2 | 10
Lissencephaly 2 | 69
Low Vision 2 | 174
Macroglossia 2 | 65
Meningoencephalocele 2 | 4
Muscle Hypertonia 2 | 88
Muscle eye brain disease 2 | 8
Muscular dystrophy 2 | 75
Pachygyria 2 | 41
Phenotypic variability 2 | 150
Polymicrogyria 2 | 48
Profound Mental Retardation 2 | 31
Retinal Degeneration 2 | 106
Retinal Detachment 2 | 51
Retinal Dysplasia 2 | 11
Seizures 2 | 596
Severe mental retardation (I.Q. 20-34) 2 | 99
Speech Disorders 2 | 58
Strabismus 2 | 270
Walker-Warburg congenital muscular dystrophy 2 | 14

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 22 | 4,145

KEGG Pathway

Other types of O-glycan biosyn... 22 | 22
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
Oxidative phosphorylation 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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