Development Level

Tchem 1 | 1,598

IMPC Phenotype

abnormal behavior 1 | 298
abnormal bone structure 1 | 187
abnormal clavicle morphology 1 | 6
abnormal cranium morphology 1 | 36
abnormal femur morphology 1 | 14
abnormal fibula morphology 1 | 2
abnormal humerus morphology 1 | 11
abnormal joint morphology 1 | 23
abnormal pelvic girdle bone mo... 1 | 12
abnormal radius morphology 1 | 8
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 grip strength 1 | 116
decreased skeletal muscle mass 1 | 1
decreased total body fat amoun... 1 | 207
decreased vertical activity 1 | 208
hypoactivity 1 | 132
increased circulating alkaline... 1 | 122
increased circulating bilirubi... 1 | 16
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

'Bulging' epiphyses 1 | 3
'Bulging' of the costochondral junction 1 | 2
Abdominal wall muscle weakness 1 | 6
Addison's disease 1 | 31
Alkaline phosphatase serum increased 1 | 29
Alopecia 1 | 115
Autosomal recessive predisposition 1 | 1,442
Bone pain 1 | 42
Cancer 1 | 2,499
Carcinoma 1 | 11,493
Defective enamel matrix 1 | 35
Deformed rib cage 1 | 2
Delayed epiphyseal ossification 1 | 10
Delayed maturation of end part of long bone 1 | 10
Dental Enamel Hypoplasia 1 | 43
Difficulty standing 1 | 3
Difficulty walking 1 | 28
Dysplasia of tooth enamel 1 | 35
Enlargement of the ankles 1 | 3
Enlargement of the costochondral junction 1 | 4
Enlargement of the wrists 1 | 5
Failure to gain weight 1 | 365
Femoral bowing 1 | 20
Fibular bowing 1 | 5
Flat back of the head 1 | 26
Flat occiput 1 | 26
Frequent fractures 1 | 53
Frontal bossing 1 | 157
Generalized aminoaciduria 1 | 9
Genu varum 1 | 29
Growth delay 1 | 114
Growth failure 1 | 114
Growth retardation 1 | 115
Hypercalcemia 1 | 59
Hyperparathyroidism 1 | 48
Hyperparathyroidism, Secondary 1 | 7
Hyperphosphatemia 1 | 32
Hypervitaminosis D 1 | 8
Hypocalcaemic seizure 1 | 4
Hypocalcemic vitamin D-dependent rickets 1 | 2
Hypophosphatemia 1 | 40
Increased fracture rate 1 | 53
Increased serum parathyroid hormone 1 | 14
Irritation - emotion 1 | 68
Late tooth eruption 1 | 61
Metaphyseal irregularity 1 | 23
Motor delay 1 | 147
Multiple Sclerosis 1 | 540
Muscle hypotonia 1 | 571
No development of motor milestones 1 | 147
Nonorganic psychosis 1 | 84
Osteomalacia 1 | 35
Pediatric failure to thrive 1 | 365
Polymyositis 1 | 5
Poor growth 1 | 114
Protuberant abdomen 1 | 16
Psychotic Disorders 1 | 151
Rickets 1 | 49
Sick sinus syndrome 1 | 15
Sparse bone trabeculae 1 | 3
Subperiosteal erosions due to secondary hyperparathyroidism 1 | 2
Thin bony cortex 1 | 9
Thin dental enamel 1 | 35
Tibial bowing 1 | 19
Varying degree of multiple fractures 1 | 53
Very poor growth 1 | 114
Vitamin D Hydroxylation-Deficient Rickets, Type 1A 1 | 1
Vitamin D-dependent rickets, type 1 1 | 2
Widely patent fontanels and sutures 1 | 12
adult high grade glioma 1 | 3,801
glioblastoma 1 | 5,792
invasive ductal carcinoma 1 | 2,951
malignant mesothelioma 1 | 3,232
medulloblastoma, large-cell 1 | 6,241
nephrosclerosis 1 | 333
non-small cell lung cancer 1 | 2,890
osteosarcoma 1 | 7,950
psoriasis 1 | 6,694

Tissue

Blood and immune system 1 | 16,909
Digestive Tract 1 | 17,369
Endocrine System 1 | 18,159
Female tissues 1 | 17,400
Liver and Pancreas 1 | 16,750
Male tissues 1 | 17,142
Nervous System 1 | 16,725
Respiratory system 1 | 16,393
Skin and soft tissues 1 | 17,230
Urinary Tract 1 | 16,678

Target Family

Enzyme 1 | 4,145

GO Function

calcidiol 1-monooxygenase acti... 1 | 1
metal ion binding 2,256 | 2,256
DNA binding 1,481 | 1,481
ATP binding 1,477 | 1,477
RNA binding 1,383 | 1,383
identical protein binding 1,084 | 1,084
zinc ion binding 828 | 828
transcription factor activity,... 816 | 816
protein homodimerization activ... 801 | 801
calcium ion binding 690 | 690
G-protein coupled receptor act... 658 | 658
protein heterodimerization act... 473 | 473
olfactory receptor activity 425 | 425
protein kinase binding 410 | 410
chromatin binding 378 | 378
receptor binding 374 | 374
sequence-specific DNA binding 374 | 374
GTP binding 372 | 372
protein serine-threonine kinas... 360 | 360
RNA polymerase II core promote... 346 | 346
enzyme binding 340 | 340
ubiquitin protein ligase bindi... 301 | 301
transcription factor binding 297 | 297
GTPase activity 286 | 286
GTPase activator activity 281 | 281
cadherin binding 277 | 277
transcriptional activator acti... 274 | 274
actin binding 272 | 272
ubiquitin-protein transferase ... 260 | 260
transcription coactivator acti... 249 | 249
serine-type endopeptidase acti... 246 | 246
protein domain specific bindin... 241 | 241
protein complex binding 231 | 231
structural molecule activity 229 | 229
microtubule binding 212 | 212
nucleic acid binding 210 | 210
signal transducer activity 208 | 208
transcription regulatory regio... 205 | 205
RNA polymerase II regulatory r... 204 | 204
receptor activity 202 | 202
transmembrane signaling recept... 202 | 202
ubiquitin protein ligase activ... 202 | 202
transcription corepressor acti... 200 | 200
magnesium ion binding 197 | 197
calmodulin binding 194 | 194
protein C-terminus binding 191 | 191
protein kinase activity 182 | 182
carbohydrate binding 178 | 178
RNA polymerase II transcriptio... 174 | 174
cytokine activity 171 | 171
antigen binding 169 | 169
growth factor activity 162 | 162
heparin binding 161 | 161
protein dimerization activity 161 | 161
structural constituent of ribo... 161 | 161
actin filament binding 151 | 151
iron ion binding 139 | 139
transcriptional activator acti... 139 | 139
Rab GTPase binding 138 | 138
transcriptional repressor acti... 135 | 135
transporter activity 134 | 134
heme binding 129 | 129
ATPase activity 128 | 128
lipid binding 127 | 127
SH3 domain binding 125 | 125
protein tyrosine kinase activi... 122 | 122
ion channel binding 118 | 118
mRNA binding 118 | 118
Ras guanyl-nucleotide exchange... 116 | 116
metalloendopeptidase activity 115 | 115
unfolded protein binding 113 | 113
integrin binding 112 | 112
histone binding 111 | 111
protease binding 108 | 108
histone deacetylase binding 107 | 107
structural constituent of cyto... 107 | 107
guanyl-nucleotide exchange fac... 106 | 106
protein N-terminus binding 106 | 106
peptide antigen binding 103 | 103
hormone activity 96 | 96
serine-type endopeptidase inhi... 96 | 96
odorant binding 94 | 94
kinase binding 92 | 92
single-stranded DNA binding 92 | 92
chaperone binding 91 | 91
oxidoreductase activity 91 | 91
protein tyrosine phosphatase a... 91 | 91
PDZ domain binding 87 | 87
thiol-dependent ubiquitinyl hy... 86 | 86
kinase activity 84 | 84
transcriptional repressor acti... 84 | 84
beta-catenin binding 83 | 83
hydrolase activity 80 | 80
peptidase activity 80 | 80
protein binding, bridging 80 | 80
ATPase binding 79 | 79
double-stranded DNA binding 79 | 79
phospholipid binding 78 | 78
phosphatidylinositol binding 77 | 77
thiol-dependent ubiquitin-spec... 76 | 76
drug binding 75 | 75

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial CYP27B1 Tchem Enzyme -2.70628 492.9 68