Development Level

Tbio 9 | 11,445

IMPC Phenotype

increased or absent threshold ... 4 | 101
absent pinna reflex 2 | 23
absent startle reflex 2 | 24
impaired righting response 2 | 26
increased circulating sodium l... 2 | 71
increased lean body mass 2 | 172
increased thermal nociceptive ... 2 | 9
stereotypic behavior 2 | 3
trunk curl 2 | 16
abnormal behavior 1 | 298
abnormal bone mineralization 1 | 38
abnormal bone structure 1 | 187
abnormal locomotor activation 1 | 16
abnormal vibrissa morphology 1 | 25
decreased body weight 1 | 161
decreased circulating amylase ... 1 | 28
decreased circulating creatini... 1 | 39
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 prepulse inhibition 1 | 82
decreased startle reflex 1 | 75
decreased total body fat amoun... 1 | 207
decreased vertical activity 1 | 208
improved glucose tolerance 1 | 79
increased blood urea nitrogen ... 1 | 48
increased bone mineral content 1 | 108
increased circulating chloride... 1 | 41
increased total body fat amoun... 1 | 134
limb grasping 1 | 41
persistence of hyaloid vascula... 1 | 33
short tibia 1 | 97

Disease

Blindness 9 | 88
Retinitis Pigmentosa 9 | 226
Usher syndrome 9 | 32
Carcinoma 8 | 11,493
Nonsyndromic deafness 8 | 142
Sensorineural hearing loss 8 | 106
Usher Syndrome, Type 1 6 | 7
Abnormal vision 5 | 52
Autosomal recessive predisposition 5 | 1,442
Cataract 5 | 297
Difficulties with night vision 5 | 87
Electroretinogram abnormal 5 | 95
Hemianopsia 5 | 15
Lens Opacities 5 | 231
Melanoma 5 | 711
Night Blindness 5 | 101
Pigmentary iris degeneration 5 | 20
Retinal blind spot 5 | 11
Scotoma 5 | 22
Sensorineural Hearing Loss (disorder) 5 | 284
Usher Syndrome, Type I 5 | 6
Dull intelligence 4 | 645
Intellectual disability 4 | 1,016
Kidney cancer 4 | 2,613
Low intelligence 4 | 645
Mental Retardation 4 | 645
Mental deficiency 4 | 645
Poor school performance 4 | 645
Skin cancer 4 | 469
Usher Syndrome, Type II 4 | 5
Usher syndrome type 2 4 | 5
lung carcinoma 4 | 2,843
medulloblastoma, large-cell 4 | 6,241
pancreatic cancer 4 | 2,398
Abnormality of cochlea 3 | 6
Breast cancer 3 | 3,578
Cerebellar Ataxia 3 | 304
Endometrial cancer 3 | 311
High-grade hypermetropia 3 | 24
Liver cancer 3 | 604
Myopia 3 | 176
Vestibular hypofunction 3 | 7
ependymoma 3 | 4,679
group 3 medulloblastoma 3 | 4,104
lung cancer 3 | 4,740
osteosarcoma 3 | 7,950
psoriasis 3 | 6,694
Abnormality of retinal pigmentation 2 | 111
Abnormality of the retinal vasculature 2 | 59
Absent vestibular function 2 | 2
Anteverted nostril 2 | 191
Asthma 2 | 385
Atypical scarring of skin 2 | 62
Blind Vision 2 | 111
Blindness, Legal 2 | 110
Broad flat nasal bridge 2 | 236
Cerebellar hypoplasia and atrophy 2 | 41
Cognitive delay 2 | 608
Conductive hearing loss 2 | 123
Congenital anomaly of testis 2 | 52
Congenital hypoplasia of penis 2 | 176
Congenital sensorineural hearing loss 2 | 12
DOID:2627 2 | 94
Deafness 2 | 198
Extinguished electroretinogram 2 | 15
Fundus with peripheral 'bony spicules' 2 | 12
Glaucoma 2 | 239
Global developmental delay 2 | 608
Hyperinsulinism 2 | 133
Hypogonadism 2 | 173
Immune system cancer 2 | 140
Keratoconus 2 | 113
Large intestine cancer 2 | 126
Low Vision 2 | 174
Mental and motor retardation 2 | 608
Motor delay 2 | 147
Nasal bridge wide 2 | 236
Night blindness, progressive 2 | 51
No development of motor milestones 2 | 147
Nystagmus 2 | 317
Obesity 2 | 678
Ophthalmoplegia 2 | 106
Optic Atrophy 2 | 242
Photodysphoria 2 | 121
Photophobia 2 | 121
Pick disease 2 | 1,894
Retinal pigment epithelial abnormality 2 | 111
Schizophrenia 2 | 1,160
USHER SYNDROME, TYPE ID 2 | 2
Usher Syndromes 2 | 2
Usher syndrome type 1D 2 | 2
Usher syndrome type 1G 2 | 2
Usher syndrome, type 1D 2 | 2
Visual Impairment 2 | 174
adrenocortical carcinoma 2 | 1,428
adult high grade glioma 2 | 3,801
astrocytic glioma 2 | 2,597
lung adenocarcinoma 2 | 2,716
ovarian cancer 2 | 8,520
pituitary cancer 2 | 1,972

Tissue

Endocrine System 9 | 18,159
Male tissues 9 | 17,142
Digestive Tract 8 | 17,369
Female tissues 8 | 17,400
Urinary Tract 8 | 16,678
Blood and immune system 7 | 16,909
Cardiovascular System 7 | 15,192
Liver and Pancreas 7 | 16,750
Nervous System 7 | 16,725
Respiratory system 7 | 16,393
Skin and soft tissues 7 | 17,230

Target Family

Non-IDG 8 | 12,091
GPCR 1 | 408

GO Process

sensory perception of light st... 9 | 9
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 
Protocadherin-15 PCDH15 Tbio Non-IDG -1.83877 74.3 42
Harmonin USH1C Tbio Non-IDG -2.10689 124.7 188
G-protein coupled receptor 98 ADGRV1 Tbio GPCR -2.51228 316.6 64
Unconventional myosin-VIIa MYO7A Tbio Non-IDG -2.14713 133.5 129
Whirlin WHRN Tbio Non-IDG -1.74958 54.1 123
Usherin USH2A Tbio Non-IDG -2.45871 284.8 38
Cadherin-23 CDH23 Tbio Non-IDG -2.01011 103.6 189
Clarin-1 CLRN1 Tbio Non-IDG -1.42455 26.7 29
Usher syndrome type-1G protein USH1G Tbio Non-IDG -1.64281 40.2 24