Development Level

Tbio 1 | 11,445
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

Carcinoma 2 | 11,493
psoriasis 2 | 6,694
'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
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
Multiple myeloma 1 | 1,332
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
group 3 medulloblastoma 1 | 4,104
invasive ductal carcinoma 1 | 2,951
lung cancer 1 | 4,740
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
ovarian cancer 1 | 8,520

Tissue

Blood and immune system 2 | 16,909
Digestive Tract 2 | 17,369
Endocrine System 2 | 18,159
Female tissues 2 | 17,400
Liver and Pancreas 2 | 16,750
Male tissues 2 | 17,142
Nervous System 2 | 16,725
Respiratory system 2 | 16,393
Skin and soft tissues 2 | 17,230
Urinary Tract 2 | 16,678
Cardiovascular System 1 | 15,192

Target Family

Enzyme 1 | 4,145
Non-IDG 1 | 12,091

GO Process

positive regulation of vitamin... 2 | 2
transcription, DNA-templated 1,742 | 1,742
regulation of transcription, D... 1,135 | 1,135
G-protein coupled receptor sig... 1,053 | 1,053
signal transduction 1,005 | 1,005
positive regulation of transcr... 932 | 932
negative regulation of transcr... 683 | 683
positive regulation of transcr... 529 | 529
apoptotic process 511 | 511
cell differentiation 511 | 511
negative regulation of transcr... 492 | 492
neutrophil degranulation 484 | 484
negative regulation of apoptot... 479 | 479
positive regulation of cell pr... 470 | 470
innate immune response 469 | 469
multicellular organism develop... 460 | 460
cell adhesion 458 | 458
immune response 426 | 426
viral process 405 | 405
negative regulation of cell pr... 398 | 398
spermatogenesis 389 | 389
intracellular signal transduct... 376 | 376
inflammatory response 373 | 373
cell proliferation 366 | 366
post-translational protein mod... 356 | 356
protein transport 348 | 348
protein ubiquitination 347 | 347
cell division 345 | 345
regulation of transcription fr... 345 | 345
protein phosphorylation 334 | 334
nervous system development 321 | 321
positive regulation of apoptot... 320 | 320
response to drug 303 | 303
cell-cell signaling 300 | 300
positive regulation of gene ex... 297 | 297
transcription from RNA polymer... 286 | 286
protein deubiquitination 271 | 271
cell cycle 268 | 268
regulation of immune response 259 | 259
transport 255 | 255
regulation of apoptotic proces... 250 | 250
MAPK cascade 242 | 242
cell surface receptor signalin... 239 | 239
mRNA splicing, via spliceosome 236 | 236
protein polyubiquitination 222 | 222
angiogenesis 220 | 220
chemical synaptic transmission 219 | 219
cellular response to DNA damag... 217 | 217
proteolysis 217 | 217
proteasome-mediated ubiquitin-... 210 | 210
adaptive immune response 209 | 209
intracellular protein transpor... 209 | 209
DNA repair 206 | 206
leukocyte migration 206 | 206
protein homooligomerization 206 | 206
rRNA processing 204 | 204
extracellular matrix organizat... 198 | 198
visual perception 198 | 198
positive regulation of ERK1 an... 194 | 194
cellular protein metabolic pro... 192 | 192
brain development 188 | 188
axon guidance 186 | 186
Fc-epsilon receptor signaling ... 182 | 182
keratinization 182 | 182
cell migration 181 | 181
defense response to virus 181 | 181
positive regulation of cell mi... 179 | 179
regulation of cell proliferati... 177 | 177
in utero embryonic development 176 | 176
Wnt signaling pathway 175 | 175
cilium assembly 175 | 175
blood coagulation 170 | 170
RNA splicing 169 | 169
translation 169 | 169
mRNA processing 168 | 168
protein autophosphorylation 168 | 168
aging 167 | 167
response to hypoxia 166 | 166
T cell receptor signaling path... 164 | 164
heart development 164 | 164
negative regulation of canonic... 164 | 164
positive regulation of I-kappa... 164 | 164
ubiquitin-dependent protein ca... 164 | 164
ER to Golgi vesicle-mediated t... 162 | 162
protein stabilization 160 | 160
response to lipopolysaccharide 160 | 160
transcription initiation from ... 160 | 160
defense response to bacterium 159 | 159
protein folding 159 | 159
sensory perception of smell 157 | 157
homophilic cell adhesion via p... 156 | 156
transmembrane transport 154 | 154
negative regulation of gene ex... 151 | 151
interferon-gamma-mediated sign... 150 | 150
receptor-mediated endocytosis 150 | 150
ion transmembrane transport 148 | 148
peptidyl-serine phosphorylatio... 148 | 148
positive regulation of protein... 148 | 148
antigen processing and present... 143 | 143
DNA replication 142 | 142
cell cycle arrest 142 | 142

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
SNW domain-containing protein 1 SNW1 Tbio Non-IDG -1.59688 46.1 88
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial CYP27B1 Tchem Enzyme -2.70628 492.9 68