Development Level

Tbio 11 | 11,445
Tchem 1 | 1,598

IMPC Phenotype

increased or absent threshold ... 4 | 101
absent startle reflex 3 | 24
absent pinna reflex 2 | 23
decreased prepulse inhibition 2 | 82
decreased startle reflex 2 | 75
impaired righting response 2 | 26
increased circulating sodium l... 2 | 71
increased lean body mass 2 | 172
increased thermal nociceptive ... 2 | 9
limb grasping 2 | 41
stereotypic behavior 2 | 3
trunk curl 2 | 16
abnormal behavior 1 | 298
abnormal bone mineralization 1 | 38
abnormal bone structure 1 | 187
abnormal ear morphology 1 | 9
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 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 HDL chol... 1 | 80
increased circulating chloride... 1 | 41
increased circulating choleste... 1 | 66
increased total body fat amoun... 1 | 134
persistence of hyaloid vascula... 1 | 33
polycystic kidney 1 | 15
short tibia 1 | 97
tremors 1 | 39

Disease

Retinitis Pigmentosa 12 | 226
Usher syndrome 12 | 32
Blindness 10 | 88
Carcinoma 10 | 11,493
Nonsyndromic deafness 10 | 142
Sensorineural hearing loss 8 | 106
Abnormal vision 7 | 52
Autosomal recessive predisposition 7 | 1,442
Cataract 7 | 297
Difficulties with night vision 7 | 87
Electroretinogram abnormal 7 | 95
Hemianopsia 7 | 15
Lens Opacities 7 | 231
Night Blindness 7 | 101
Pigmentary iris degeneration 7 | 20
Retinal blind spot 7 | 11
Scotoma 7 | 22
Sensorineural Hearing Loss (disorder) 7 | 284
Usher Syndrome, Type 1 7 | 7
Usher Syndrome, Type I 6 | 6
Abnormality of cochlea 5 | 6
Cerebellar Ataxia 5 | 304
Dull intelligence 5 | 645
High-grade hypermetropia 5 | 24
Intellectual disability 5 | 1,016
Low intelligence 5 | 645
Melanoma 5 | 711
Mental Retardation 5 | 645
Mental deficiency 5 | 645
Poor school performance 5 | 645
Usher Syndrome, Type II 5 | 5
Usher syndrome type 2 5 | 5
Vestibular hypofunction 5 | 7
osteosarcoma 5 | 7,950
Kidney cancer 4 | 2,613
Perrault syndrome 4 | 19
Skin cancer 4 | 469
lung carcinoma 4 | 2,843
medulloblastoma, large-cell 4 | 6,241
pancreatic cancer 4 | 2,398
psoriasis 4 | 6,694
Breast cancer 3 | 3,578
Cerebellar hypoplasia and atrophy 3 | 41
Cognitive delay 3 | 608
Deafness 3 | 198
Endometrial cancer 3 | 311
Global developmental delay 3 | 608
Liver cancer 3 | 604
Low Vision 3 | 174
Mental and motor retardation 3 | 608
Motor delay 3 | 147
Myopia 3 | 176
No development of motor milestones 3 | 147
Photodysphoria 3 | 121
Photophobia 3 | 121
Schizophrenia 3 | 1,160
Visual Impairment 3 | 174
ependymoma 3 | 4,679
group 3 medulloblastoma 3 | 4,104
lung cancer 3 | 4,740
ovarian cancer 3 | 8,520
pituitary cancer 3 | 1,972
Abnormality of retinal pigmentation 2 | 111
Abnormality of the retinal vasculature 2 | 59
Anteverted nostril 2 | 191
Asthma 2 | 385
Astigmatism 2 | 54
Atypical scarring of skin 2 | 62
Blind Vision 2 | 111
Blindness, Legal 2 | 110
Broad flat nasal bridge 2 | 236
Conductive hearing loss 2 | 123
Congenital anomaly of testis 2 | 52
Congenital deafness 2 | 185
DOID:2627 2 | 94
Extinguished electroretinogram 2 | 15
Fundus with peripheral 'bony spicules' 2 | 12
Glaucoma 2 | 239
Hearing Loss, Partial 2 | 185
Hyperinsulinism 2 | 133
Immune system cancer 2 | 140
Keratoconus 2 | 113
Large intestine cancer 2 | 126
Nasal bridge wide 2 | 236
Night blindness, progressive 2 | 51
Ophthalmoplegia 2 | 106
Pick disease 2 | 1,894
Prenatal onset 2 | 139
Retinal pigment epithelial abnormality 2 | 111
USHER SYNDROME, TYPE ID 2 | 2
Usher syndrome type 1D 2 | 2
Usher syndrome type 2C 2 | 2
Usher syndrome type 3 2 | 5
Usher syndrome, type 1D 2 | 2
Usher syndrome, type 2C 2 | 2
adrenocortical carcinoma 2 | 1,428
adult high grade glioma 2 | 3,801
astrocytic glioma 2 | 2,597
hearing impairment 2 | 199
lung adenocarcinoma 2 | 2,716

Tissue

Endocrine System 12 | 18,159
Male tissues 12 | 17,142
Digestive Tract 11 | 17,369
Female tissues 11 | 17,400
Urinary Tract 11 | 16,678
Blood and immune system 10 | 16,909
Cardiovascular System 10 | 15,192
Liver and Pancreas 10 | 16,750
Nervous System 10 | 16,725
Respiratory system 10 | 16,393
Skin and soft tissues 10 | 17,230

Target Family

Non-IDG 10 | 12,091
Enzyme 1 | 4,145
GPCR 1 | 408

UniProt Keyword

Usher syndrome 12 | 12
Complete proteome 20,231 | 20,231
Reference proteome 20,231 | 20,231
Polymorphism 12,194 | 12,194
Alternative splicing 10,528 | 10,528
Phosphoprotein 8,216 | 8,216
Membrane 7,361 | 7,361
3D-structure 6,226 | 6,226
Nucleus 5,259 | 5,259
Transmembrane 5,228 | 5,228
Transmembrane helix 5,207 | 5,207
Cytoplasm 4,952 | 4,952
Repeat 4,916 | 4,916
Glycoprotein 4,623 | 4,623
Metal-binding 3,672 | 3,672
Disulfide bond 3,599 | 3,599
Signal 3,561 | 3,561
Acetylation 3,409 | 3,409
Cell membrane 3,390 | 3,390
Direct protein sequencing 2,872 | 2,872
Disease mutation 2,804 | 2,804
Ubl conjugation 2,439 | 2,439
Transcription 2,402 | 2,402
Zinc 2,356 | 2,356
Transcription regulation 2,336 | 2,336
Coiled coil 2,153 | 2,153
Secreted 2,041 | 2,041
DNA-binding 2,008 | 2,008
Transport 1,985 | 1,985
Zinc-finger 1,785 | 1,785
Transferase 1,782 | 1,782
Nucleotide-binding 1,775 | 1,775
Isopeptide bond 1,739 | 1,739
Hydrolase 1,654 | 1,654
Receptor 1,502 | 1,502
ATP-binding 1,380 | 1,380
Cytoskeleton 1,182 | 1,182
Mitochondrion 1,147 | 1,147
Endoplasmic reticulum 1,119 | 1,119
Methylation 973 | 973
Developmental protein 965 | 965
Transducer 887 | 887
Calcium 875 | 875
Golgi apparatus 838 | 838
G-protein coupled receptor 830 | 830
Cell projection 826 | 826
Lipoprotein 825 | 825
Immunity 717 | 717
Cell junction 709 | 709
Differentiation 703 | 703
Ubl conjugation pathway 684 | 684
RNA-binding 682 | 682
Activator 672 | 672
Cell cycle 647 | 647
Kinase 637 | 637
Ion transport 631 | 631
Immunoglobulin domain 625 | 625
Protein transport 612 | 612
Repressor 602 | 602
Sensory transduction 600 | 600
Oxidoreductase 571 | 571
Magnesium 558 | 558
Transit peptide 544 | 544
Cytoplasmic vesicle 535 | 535
Protease 535 | 535
Apoptosis 533 | 533
Endosome 525 | 525
Cell adhesion 482 | 482
Host-virus interaction 472 | 472
Signal-anchor 458 | 458
Olfaction 435 | 435
Lipid metabolism 432 | 432
Chromosome 388 | 388
Serine-threonine-protein kinas... 388 | 388
Cell division 383 | 383
Synapse 378 | 378
DNA damage 366 | 366
Mental retardation 362 | 362
Ion channel 348 | 348
mRNA processing 340 | 340
GTP-binding 339 | 339
Palmitate 331 | 331
Chromosomal rearrangement 324 | 324
Iron 319 | 319
Neurodegeneration 318 | 318
Leucine-rich repeat 312 | 312
DNA repair 306 | 306
Lysosome 301 | 301
Cleavage on pair of basic resi... 298 | 298
Innate immunity 291 | 291
Chromatin regulator 290 | 290
Ribonucleoprotein 286 | 286
Microtubule 281 | 281
Adaptive immunity 280 | 280
WD repeat 277 | 277
Mitochondrion inner membrane 276 | 276
Mitosis 273 | 273
Actin-binding 272 | 272
mRNA splicing 264 | 264
Neurogenesis 260 | 260
ANK repeat 258 | 258

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
Histidine--tRNA ligase, cytoplasmic HARS Tchem Enzyme -1.85612 66.8 212
Whirlin WHRN Tbio Non-IDG -1.74958 54.1 123
PDZ domain-containing protein 7 PDZD7 Tbio Non-IDG -0.78604 7.25 45
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