Development Level

Tbio 3 | 11,445

IMPC Phenotype

abnormal behavior 1 | 298
abnormal optic disc morphology 1 | 10
abnormal tooth morphology 1 | 24
corneal opacity 1 | 32
enlarged heart 1 | 210
irregularly shaped pupil 1 | 7
prenatal lethality 1 | 28
preweaning lethality, complete... 1 | 979
small testis 1 | 58

Disease

ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 2 | 21
Atrial Fibrillation 2 | 124
Autosomal recessive predisposition 2 | 1,442
Congenital heart disease 2 | 93
Constipation 2 | 181
Dyschezia 2 | 135
lung cancer 2 | 4,740
pituitary cancer 2 | 1,972
psoriasis 2 | 6,694
Abnormal nasal morphology 1 | 16
Abnormality of the abdominal wall 1 | 10
Abnormality of the conjunctiva 1 | 2
Abnormally prominent line of Schwalbe 1 | 2
Aniridia 1 | 25
Anterior chamber anomalies 1 | 4
Anterior segment mesenchymal dysgenesis 1 | 7
Athyreosis 1 | 4
Athyroidal hypothyroidism 1 | 5
Atrial heart septal defect 1 | 18
Atrioventricular Septal Defect 1 | 22
Atrioventricular block 1 | 35
Axenfeld anomaly (disorder) 1 | 3
Axenfeld-Rieger Syndrome, Type 1 1 | 3
Axenfeld-Rieger syndrome 1 | 14
Bardet-Biedl syndrome 5 1 | 2
Brittle cornea syndrome 1 | 4
Broad hallux 1 | 29
Cardiomegaly 1 | 116
Cogan-Reese syndrome 1 | 3
Congenital atresia of aortic valve 1 | 1
Congenital atresia of mitral valve 1 | 2
Congenital hypoplasia of aortic arch 1 | 2
Congenital hypothyroidism 1 | 26
Conotruncal Heart Malformations 1 | 10
Corneal abnormalities 1 | 6
Cornela disease 1 | 6
Decreased projection of maxilla 1 | 66
Decreased projection of midface 1 | 105
Deficiency of upper jaw bones 1 | 66
Dental abnormalities 1 | 60
Discordant ventriculoarterial connection 1 | 17
Double Outlet Right Ventricle 1 | 11
Ebstein anomaly 1 | 16
Ectopic thyroid tissue (disorder) 1 | 2
Everted lower lip vermilion 1 | 54
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 1 | 4
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) 1 | 1
Heart Septal Defects, Ventricular 1 | 6
Hereditary bundle branch system defect 1 | 4
Holt-Oram syndrome 1 | 12
Hyperplasia of supraorbital margins 1 | 19
Hyperplasia of supraorbital ridge 1 | 19
Hypersomnia 1 | 8
Hypertrophic pyloric stenosis 1 | 3
Hypertrophy of supraorbital margins 1 | 19
Hypertrophy of supraorbital ridge 1 | 19
Hypodontia 1 | 81
Hypoplasia of iris 1 | 10
Hypoplasia of the maxilla 1 | 66
Hypoplastic Left Heart Syndrome 1 | 14
Hypoplastic iris stoma 1 | 4
Hypotrophic maxilla 1 | 66
Hypotrophic midface 1 | 105
IRIDOGONIODYSGENESIS, TYPE 2 1 | 1
Iridogoniodysgenesis syndrome 1 | 9
Iridogoniodysgenesis, dominant type 1 | 1
Isolated somatotropin deficiency 1 | 30
Maxillary retrognathia 1 | 66
Midface retrusion 1 | 105
Myotonic Dystrophy 1 | 3
Ostium secundum atrial septal defect 1 | 9
POLYDACTYLY, POSTAXIAL 1 | 13
Persistant truncus arteriosus 1 | 17
Persistent hyperplastic primary vitreous 1 | 20
Peters anomaly 1 | 16
Pigment dispersion syndrome 1 | 11
Pigmentary iris degeneration 1 | 20
Pituitary hypoplasia 1 | 23
Polycoria 1 | 1
Preauricular Fistulae, Congenital 1 | 27
Preauricular dimple 1 | 27
Preauricular sinus 1 | 27
Progressive mental retardation 1 | 37
Prolonged PR interval 1 | 1
Prominent supraorbital ridges 1 | 19
Protruding lower lip 1 | 54
RING DERMOID OF CORNEA 1 | 1
Retrusion of upper jaw bones 1 | 66
Rieger syndrome 1 | 8
Septooptic dysplasia 1 | 19
Small midface 1 | 105
Splenic Hypoplasia 1 | 2
Stricture of anus 1 | 13
Tetralogy of Fallot 1 | 63
Thyroid Agenesis 1 | 5
Thyroid Hypoplasia 1 | 4
Tooth Abnormalities 1 | 69
Tooth agenesis 1 | 44
Tricuspid atresia 1 | 7
ventricular septal defect 1 | 20

Tissue

Cardiovascular System 3 | 15,192
Female tissues 3 | 17,400
Urinary Tract 3 | 16,678
Blood and immune system 2 | 16,909
Digestive Tract 2 | 17,369
Endocrine System 2 | 18,159
Liver and Pancreas 2 | 16,750
Male tissues 2 | 17,142
Skin and soft tissues 2 | 17,230
Nervous System 1 | 16,725
Respiratory system 1 | 16,393

Target Family

Transcription Factor 2 | 1,400
Non-IDG 1 | 12,091

GO Process

pulmonary myocardium developme... 3 | 3
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 
Pituitary homeobox 2 PITX2 Tbio Transcription Factor -2.67290 480.0 220
Semaphorin-3C SEMA3C Tbio Non-IDG -1.95299 88.1 184
Homeobox protein Nkx-2.5 NKX2-5 Tbio Transcription Factor -2.79738 600.1 385