Development Level

Tbio 11 | 11,445
Tchem 1 | 1,598
Tdark 1 | 6,588

IMPC Phenotype

decreased grip strength 1 | 116
increased startle reflex 1 | 112

Disease

pancreatic ductal adenocarcinoma liver metastasis 8 | 1,962
Carcinoma 7 | 11,493
ovarian cancer 7 | 8,520
osteosarcoma 5 | 7,950
psoriasis 5 | 6,694
Gait abnormality 4 | 135
Muscle hypotonia 4 | 571
glioblastoma 4 | 5,792
Abnormality of the voice 3 | 46
Breast cancer 3 | 3,578
Cleft Palate 3 | 271
Cognitive delay 3 | 608
Creatine phosphokinase serum increased 3 | 110
Elevated creatine kinase 3 | 110
Global developmental delay 3 | 608
Mental and motor retardation 3 | 608
Muscle Hypertonia 3 | 88
Myopathy 3 | 185
Uranostaphyloschisis 3 | 167
lung cancer 3 | 4,740
malignant mesothelioma 3 | 3,232
non primary Sjogren syndrome sicca 3 | 891
Absent auditory canals 2 | 23
Absent external auditory canals 2 | 23
Acquired scoliosis 2 | 281
Atresia of the external auditory canal 2 | 23
Atretic auditory canal 2 | 23
Atrophic retina 2 | 7
Bell Palsy 2 | 58
Blind Vision 2 | 111
Blindness, Legal 2 | 110
Clouding of corneal stroma 2 | 50
Cobblestone Lissencephaly 2 | 8
Congenital joint contractures 2 | 9
Congenital keratoglobus 2 | 14
Congenital muscular dystrophy 2 | 29
Congenital muscular dystrophy (disorder) 2 | 14
Congenital ocular coloboma (disorder) 2 | 40
Congenital small ears 2 | 48
Contracture 2 | 96
Contracture of joint 2 | 93
Corneal Opacity 2 | 53
Corneal diameter increased 2 | 13
Diarrhea 2 | 253
Difficulty walking up stairs 2 | 12
Dystonia 2 | 164
Electroencephalogram abnormal 2 | 101
Electromyogram abnormal 2 | 49
Excessive daytime somnolence 2 | 14
Facial Paresis 2 | 59
Facial muscle weakness of muscles innervated by CN VII 2 | 58
Flexion contracture 2 | 93
Flexion contractures of joints 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
Highly variable severity 2 | 157
Hydrophthalmos 2 | 19
Hypoplasia of corpus callosum 2 | 90
Hypoplasia of the brainstem 2 | 22
Hypoplasia of the optic nerve 2 | 17
Hypoplastic male genitalia 2 | 7
Hypotonia, severe 2 | 33
Impaired cognition 2 | 96
Infantile onset 2 | 238
Irido-corneo-trabecular dysgenesis (disorder) 2 | 10
Lissencephaly 2 | 69
Low Vision 2 | 174
Lumbar lordosis 2 | 35
MUSCULAR DYSTROPHY, CONGENITAL, 1C 2 | 9
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 2 | 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 2 | 7
Macroglossia 2 | 65
Meningoencephalocele 2 | 4
Mental impairment 2 | 95
Motor delay 2 | 147
Muscle biopsy shows dystrophic changes 2 | 39
Muscle eye brain disease 2 | 8
Muscular Dystrophy, Congenital, Type 1D 2 | 5
Muscular dystrophy 2 | 75
Myopia 2 | 176
Pachygyria 2 | 41
Phenotypic variability 2 | 150
Polymicrogyria 2 | 48
Posterior fossa cyst 2 | 8
Profound Mental Retardation 2 | 31
Profound intellectual disabilities 2 | 31
RENAL ADYSPLASIA 2 | 25
Retinal Degeneration 2 | 106
Retinal Detachment 2 | 51
Retinal Dysplasia 2 | 11
Severe mental retardation (I.Q. 20-34) 2 | 99
Speech Disorders 2 | 58
Spinal rigidity 2 | 13
Strabismus 2 | 270
Variable expressivity 2 | 157
Walker-Warburg congenital muscular dystrophy 2 | 14
Walker-Warburg syndrome 2 | 20
limb-girdle muscular dystrophy 2 | 37

Tissue

Blood and immune system 13 | 16,909
Cardiovascular System 13 | 15,192
Digestive Tract 13 | 17,369
Endocrine System 13 | 18,159
Female tissues 13 | 17,400
Liver and Pancreas 13 | 16,750
Male tissues 13 | 17,142
Nervous System 13 | 16,725
Respiratory system 13 | 16,393
Skin and soft tissues 13 | 17,230
Urinary Tract 13 | 16,678

Target Family

Enzyme 7 | 4,145
Non-IDG 6 | 12,091

GO Process

ER-associated misfolded protei... 13 | 13
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 
Protein O-mannosyl-transferase 1 POMT1 Tbio Enzyme -1.57372 38.3 123
Derlin-1 DERL1 Tbio Non-IDG -1.88253 69.7 178
UDP-glucose:glycoprotein glucosyltransferase 1 UGGT1 Tbio Enzyme -1.60583 43.0 80
Large proline-rich protein BAG6 BAG6 Tbio Non-IDG -2.75607 556.9 226
UDP-glucose:glycoprotein glucosyltransferase 2 UGGT2 Tbio Enzyme -0.47145 1.64 93
E3 ubiquitin-protein ligase RNF5 RNF5 Tbio Enzyme -1.20054 15.1 166
Protein O-mannosyl-transferase 2 POMT2 Tbio Enzyme -1.48456 31.6 104
Stromal cell-derived factor 2-like protein 1 SDF2L1 Tdark Non-IDG -0.57145 4.35 62
Torsin-1A TOR1A Tbio Non-IDG -3.10052 1230.7 179
Ubiquitin recognition factor in ER-associated degradation protein 1 UFD1 Tbio Non-IDG -1.78158 54.5 187