Development Level

Tchem 13 | 1,598
Tbio 6 | 11,445

IMPC Phenotype

preweaning lethality, complete... 4 | 979
abnormal behavior 2 | 298
abnormal bone structure 1 | 187
abnormal clavicle morphology 1 | 6
abnormal cranium morphology 1 | 36
abnormal embryo size 1 | 220
abnormal embryo turning 1 | 31
abnormal femur morphology 1 | 14
abnormal fibula morphology 1 | 2
abnormal humerus morphology 1 | 11
abnormal joint morphology 1 | 23
abnormal lens morphology 1 | 81
abnormal pelvic girdle bone mo... 1 | 12
abnormal radius morphology 1 | 8
abnormal retinal blood vessel ... 1 | 26
abnormal retinal vasculature m... 1 | 27
abnormal rib morphology 1 | 10
abnormal scapula morphology 1 | 3
abnormal tibia morphology 1 | 14
abnormal ulna morphology 1 | 8
abnormal vertebrae morphology 1 | 18
absent mammary gland 1 | 1
decreased body length 1 | 101
decreased bone mineral content 1 | 151
decreased bone mineral density 1 | 126
decreased circulating HDL chol... 1 | 68
decreased circulating calcium ... 1 | 36
decreased circulating choleste... 1 | 93
decreased circulating glucose ... 1 | 126
decreased circulating phosphat... 1 | 27
decreased circulating triglyce... 1 | 79
decreased grip strength 1 | 116
decreased skeletal muscle mass 1 | 1
decreased total body fat amoun... 1 | 207
decreased vertical activity 1 | 208
embryonic growth retardation 1 | 106
embryonic lethality prior to o... 1 | 239
embryonic lethality prior to t... 1 | 278
hypoactivity 1 | 132
increased circulating alkaline... 1 | 122
increased circulating bilirubi... 1 | 16
increased erythrocyte cell num... 1 | 39
increased hematocrit 1 | 46
short tibia 1 | 97
small heart 1 | 10
small kidney 1 | 16
small ovary 1 | 1
small spleen 1 | 19
small uterus 1 | 3
thin skin 1 | 2

Disease

ovarian cancer 11 | 8,520
psoriasis 11 | 6,694
Carcinoma 10 | 11,493
osteosarcoma 10 | 7,950
intraductal papillary-mucinous neoplasm (IPMN) 9 | 3,291
malignant mesothelioma 9 | 3,232
intraductal papillary-mucinous carcinoma (IPMC) 8 | 2,989
lung cancer 8 | 4,740
pancreatic ductal adenocarcinoma liver metastasis 8 | 1,962
Autosomal recessive predisposition 7 | 1,442
Failure to gain weight 7 | 365
Pediatric failure to thrive 7 | 365
intraductal papillary-mucinous adenoma (IPMA) 7 | 2,955
medulloblastoma, large-cell 7 | 6,241
Antley-Bixler syndrome 6 | 16
Pick disease 6 | 1,894
Smith-Lemli-Opitz syndrome 6 | 9
active Crohn's disease 6 | 922
interstitial cystitis 6 | 2,312
invasive ductal carcinoma 6 | 2,951
subependymal giant cell astrocytoma 6 | 2,287
Breast cancer 5 | 3,578
Cataract 5 | 297
Cognitive delay 5 | 608
Global developmental delay 5 | 608
Intellectual disability 5 | 1,016
Mental and motor retardation 5 | 608
Muscle hypotonia 5 | 571
adult high grade glioma 5 | 3,801
atypical teratoid / rhabdoid tumor 5 | 5,112
ductal carcinoma in situ 5 | 1,745
ependymoma 5 | 4,679
glioblastoma 5 | 5,792
group 3 medulloblastoma 5 | 4,104
non-small cell lung cancer 5 | 2,890
pancreatic cancer 5 | 2,398
pituitary cancer 5 | 1,972
Atopic dermatitis 4 | 952
Cancer 4 | 2,499
Chondrodysplasia punctata 4 | 41
Congenital Epicanthus 4 | 177
Congenital ichthyosiform erythroderma 4 | 28
Dull intelligence 4 | 645
Epilepsy 4 | 792
Low intelligence 4 | 645
Mental Retardation 4 | 645
Mental deficiency 4 | 645
Poor school performance 4 | 645
Seizures 4 | 596
astrocytic glioma 4 | 2,597
breast carcinoma 4 | 1,638
Anteverted nostril 3 | 191
Blepharoptosis 3 | 231
Byzanthine arch palate 3 | 194
Congenital deafness 3 | 185
Deafness 3 | 198
Hearing Loss, Partial 3 | 185
Hydronephrosis 3 | 89
Hypoplastic mandible condyle 3 | 275
Lens Opacities 3 | 231
Mandibular hypoplasia 3 | 275
Mevalonic aciduria 3 | 16
Micrognathism 3 | 275
Nystagmus 3 | 317
Rickets 3 | 49
Small head 3 | 374
Stippled epiphyses 3 | 28
Strabismus 3 | 270
Vomiting 3 | 116
Waldenstrons macroglobulinemia 3 | 765
active ulcerative colitis 3 | 764
adrenocortical carcinoma 3 | 1,428
group 4 medulloblastoma 3 | 1,855
hearing impairment 3 | 199
lung adenocarcinoma 3 | 2,716
oligodendroglioma 3 | 2,850
primitive neuroectodermal tumor 3 | 3,035
Acquired scoliosis 2 | 281
Aggressive behavior 2 | 75
Aggressive reaction 2 | 75
Atherosclerosis 2 | 291
Curvature of spine 2 | 282
Frontal bossing 2 | 157
Gingival Hyperplasia 2 | 34
Gingival Hypertrophy 2 | 34
Gingival Overgrowth 2 | 36
Hepatomegaly 2 | 285
Highly variable clinical phenotype 2 | 150
Highly variable phenotype and severity 2 | 150
Highly variable phenotype, even within families 2 | 150
Liver Cirrhosis 2 | 181
Long philtrum 2 | 137
Multiple Sclerosis 2 | 540
Phenotypic variability 2 | 150
Physical aggression 2 | 76
Posteriorly rotated ear 2 | 61
Short nose 2 | 132
Small nose 2 | 132
Tinea pedis 2 | 29
tuberculosis 2 | 2,010

Tissue

Blood and immune system 19 | 16,909
Digestive Tract 19 | 17,369
Endocrine System 19 | 18,159
Female tissues 19 | 17,400
Liver and Pancreas 19 | 16,750
Male tissues 19 | 17,142
Respiratory system 19 | 16,393
Skin and soft tissues 19 | 17,230
Urinary Tract 19 | 16,678
Nervous System 18 | 16,725
Cardiovascular System 16 | 15,192

Target Family

Enzyme 19 | 4,145

KEGG Pathway

Steroid biosynthesis 19 | 19
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

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Delta(14)-sterol reductase TM7SF2 Tbio Enzyme -1.10571 12.4 88
Lysosomal acid lipase/cholesteryl ester hydrolase LIPA Tchem Enzyme -2.80202 616.3 170
Lathosterol oxidase SC5D Tbio Enzyme -1.42233 28.3 26
Vitamin D 25-hydroxylase CYP2R1 Tbio Enzyme -1.96830 95.4 152
7-dehydrocholesterol reductase DHCR7 Tchem Enzyme -2.44252 276.5 109
Lanosterol synthase LSS Tchem Enzyme -2.22381 150.1 87
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial CYP24A1 Tchem Enzyme -2.91460 825.9 228
Sterol O-acyltransferase 2 SOAT2 Tchem Enzyme -1.60747 40.5 68
Bile salt-activated lipase CEL Tchem Enzyme -2.57254 373.8 0
Squalene monooxygenase SQLE Tchem Enzyme -1.89887 71.9 109