Development Level

Tbio 2 | 11,178

IMPC Phenotype

absent pinna reflex 2 | 23
decreased circulating amylase ... 1 | 28
decreased circulating glucose ... 1 | 126
decreased circulating insulin ... 1 | 76
decreased circulating potassiu... 1 | 20
decreased circulating triglyce... 1 | 79
decreased grip strength 1 | 116
decreased total body fat amoun... 1 | 207
impaired righting response 1 | 26
improved glucose tolerance 1 | 79
increased bone mineral content 1 | 108
increased circulating chloride... 1 | 41
increased circulating sodium l... 1 | 71
increased hemoglobin content 1 | 45
increased lean body mass 1 | 172
increased mean corpuscular hem... 1 | 96
increased or absent threshold ... 1 | 101
limb grasping 1 | 41
stereotypic behavior 1 | 3
trunk curl 1 | 16

Disease

Carcinoma 2 | 11,192
Nonsyndromic deafness 2 | 137
psoriasis 2 | 6,514
Abnormal vision 1 | 51
Abnormality of cochlea 1 | 6
Absent vestibular function 1 | 2
Autosomal recessive predisposition 1 | 1,407
Blindness 1 | 86
Cataract 1 | 290
Cerebellar Ataxia 1 | 302
Cerebellar hypoplasia and atrophy 1 | 39
Cognitive delay 1 | 596
Congenital sensorineural hearing loss 1 | 12
DEAFNESS, AUTOSOMAL RECESSIVE 18A 1 | 1
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT 1 | 1
Deafness 1 | 193
Deafness, Autosomal Recessive 18 1 | 1
Difficulties with night vision 1 | 85
Dull intelligence 1 | 634
Electroretinogram abnormal 1 | 94
Extinguished electroretinogram 1 | 14
Global developmental delay 1 | 596
Hemianopsia 1 | 15
High-grade hypermetropia 1 | 24
Intellectual disability 1 | 998
Kidney Failure 1 | 108
Kidney cancer 1 | 2,548
Lens Opacities 1 | 227
Low intelligence 1 | 634
Melanoma 1 | 689
Mental Retardation 1 | 634
Mental and motor retardation 1 | 596
Mental deficiency 1 | 634
Motor delay 1 | 144
Night Blindness 1 | 99
No development of motor milestones 1 | 144
Pigmentary iris degeneration 1 | 20
Poor school performance 1 | 634
Retinal blind spot 1 | 11
Retinitis Pigmentosa 1 | 223
Schizophrenia 1 | 1,136
Scotoma 1 | 22
Sensorineural Hearing Loss (disorder) 1 | 281
Sensorineural hearing loss 1 | 102
Skin cancer 1 | 451
Social phobia 1 | 9
Usher Syndrome, Type 1 1 | 7
Usher Syndrome, Type I 1 | 6
Usher syndrome 1 | 32
Usher syndrome type 1C 1 | 3
Usher syndrome, type 1B 1 | 2
Usher syndrome, type 1C 1 | 1
Vestibular Diseases 1 | 7
Vestibular hypofunction 1 | 7
esophageal adenocarcinoma 1 | 696
intraductal papillary-mucinous adenoma (IPMA) 1 | 2,872
intraductal papillary-mucinous carcinoma (IPMC) 1 | 2,902
intraductal papillary-mucinous neoplasm (IPMN) 1 | 3,204
lung cancer 1 | 4,607
lung carcinoma 1 | 2,755
nephrosclerosis 1 | 314
osteosarcoma 1 | 7,766
pancreatic cancer 1 | 2,322
pancreatic ductal adenocarcinoma liver metastasis 1 | 1,911
pituitary cancer 1 | 1,915

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

Non-IDG 2 | 12,091

GO Process

parallel actin filament bundle... 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 
Espin ESPN Tbio Non-IDG -2.01425 100.4 63
Harmonin USH1C Tbio Non-IDG -2.10689 124.7 188