Development Level

Tbio 21 | 11,445
Tchem 3 | 1,598
Tclin 1 | 613

IMPC Phenotype

abnormal behavior 1 | 298
abnormal coat-hair pigmentatio... 1 | 64
abnormal liver morphology 1 | 17
abnormal locomotor behavior 1 | 24
abnormal pancreas morphology 1 | 13
decreased vertical activity 1 | 208
enlarged heart 1 | 210
hypoactivity 1 | 132
increased mean corpuscular hem... 1 | 96
kyphosis 1 | 5
prolonged PR interval 1 | 15
vertebral fusion 1 | 23

Disease

cone-rod dystrophy 25 | 59
Retinitis Pigmentosa 23 | 226
Carcinoma 20 | 11,493
Cone dystrophy 19 | 71
Photodysphoria 15 | 121
Photophobia 15 | 121
Abnormal color vision 14 | 31
Color vision defect 14 | 33
Color vision defect, severe 14 | 31
Difficulties with night vision 14 | 87
Fundus dystrophy 14 | 83
Night Blindness 14 | 101
psoriasis 14 | 6,694
Abnormality of retinal pigmentation 13 | 111
Cone/cone-rod dystrophy 13 | 20
Retinal pigment epithelial abnormality 13 | 111
Autosomal recessive predisposition 11 | 1,442
Nystagmus 11 | 317
osteosarcoma 11 | 7,950
Retinal Degeneration 10 | 106
ependymoma 9 | 4,679
ovarian cancer 9 | 8,520
Low Vision 8 | 174
Visual Impairment 8 | 174
group 3 medulloblastoma 8 | 4,104
Blind Vision 7 | 111
Blindness, Legal 7 | 110
Cataract 7 | 297
Electroretinogram abnormal 7 | 95
Kidney cancer 7 | 2,613
Lens Opacities 7 | 231
Obesity 7 | 678
Reduced visual acuity 7 | 63
intraductal papillary-mucinous neoplasm (IPMN) 7 | 3,291
lung cancer 7 | 4,740
medulloblastoma, large-cell 7 | 6,241
Blindness 6 | 88
Dull intelligence 6 | 645
Glaucoma 6 | 239
Hyperinsulinism 6 | 133
Intellectual disability 6 | 1,016
Keratoconus 6 | 113
Leber congenital amaurosis 6 | 69
Low intelligence 6 | 645
Mental Retardation 6 | 645
Mental deficiency 6 | 645
Optic Atrophy 6 | 242
Poor school performance 6 | 645
Sensorineural Hearing Loss (disorder) 6 | 284
glioblastoma 6 | 5,792
Abnormality of macular pigmentation 5 | 16
Abnormality of the retinal vasculature 5 | 59
Anteverted nostril 5 | 191
Atypical scarring of skin 5 | 62
Blind spot located at fixation point 5 | 21
Bradyopsia 5 | 10
Broad flat nasal bridge 5 | 236
Conductive hearing loss 5 | 123
Congenital anomaly of testis 5 | 52
Congenital hypoplasia of penis 5 | 176
Hypogonadism 5 | 173
Macular pigmentary changes 5 | 16
Nasal bridge wide 5 | 236
Night blindness, progressive 5 | 51
Ophthalmoplegia 5 | 106
Scotoma, Central 5 | 21
atypical teratoid / rhabdoid tumor 5 | 5,112
intraductal papillary-mucinous adenoma (IPMA) 5 | 2,955
oligodendroglioma 5 | 2,850
primitive neuroectodermal tumor 5 | 3,035
Achromatopsia 4 | 16
Astrocytoma, Pilocytic 4 | 3,081
Macular degeneration 4 | 65
Partial central choroid dystrophy 4 | 11
Stargardt disease 4 | 6
Abnormal eye movements, paroxysmal 3 | 5
Abnormal visual evoked potential 3 | 26
Abnormality of the choroid 3 | 7
Age related macular degeneration 3 | 72
Aplasia/Hypoplasia of the macula 3 | 8
Breast cancer 3 | 3,578
Choroid Diseases 3 | 7
Ciliopathy 3 | 71
Loss of peripheral vision 3 | 5
Loss of retinal pigment epithelium 3 | 10
Myopia 3 | 176
Retinal flecking 3 | 7
Salt and pepper retinal pigmentation 3 | 8
Severe visual impairment 3 | 16
Stargardt's disease 3 | 6
Tunnel visual field constriction 3 | 5
Visual field constriction 3 | 36
adult high grade glioma 3 | 3,801
astrocytic glioma 3 | 2,597
astrocytoma 3 | 1,146
intraductal papillary-mucinous carcinoma (IPMC) 3 | 2,989
invasive ductal carcinoma 3 | 2,951
lung adenocarcinoma 3 | 2,716
pancreatic cancer 3 | 2,398
tuberculosis 3 | 2,010

Tissue

Endocrine System 25 | 18,159
Skin and soft tissues 25 | 17,230
Digestive Tract 24 | 17,369
Blood and immune system 23 | 16,909
Female tissues 23 | 17,400
Liver and Pancreas 22 | 16,750
Male tissues 22 | 17,142
Nervous System 22 | 16,725
Respiratory system 21 | 16,393
Urinary Tract 21 | 16,678
Cardiovascular System 19 | 15,192

Target Family

Non-IDG 13 | 12,091
Enzyme 6 | 4,145
Ion Channel 2 | 344
Transcription Factor 2 | 1,400
Kinase 1 | 634
Transporter 1 | 473

UniProt Keyword

Cone-rod dystrophy 25 | 25
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 
Cone-rod homeobox protein CRX Tbio Transcription Factor -2.44826 272.0 185
Tubulin polyglutamylase TTLL5 TTLL5 Tbio Enzyme -0.67048 4.78 28
Retinal guanylyl cyclase 1 GUCY2D Tbio Kinase -2.20658 167.7 205
Disintegrin and metalloproteinase domain-containing protein 9 ADAM9 Tchem Enzyme -2.08807 122.3 258
Protein C8orf37 C8orf37 Tbio Non-IDG -2.10097 123.4 32
Prominin-1 PROM1 Tbio Non-IDG -3.30229 2035.0 351
Metal transporter CNNM4 CNNM4 Tbio Non-IDG -1.18531 16.5 123
Choline-phosphate cytidylyltransferase A PCYT1A Tbio Enzyme -2.39713 242.7 191
Membrane-associated phosphatidylinositol transfer protein 3 PITPNM3 Tbio Non-IDG -1.39360 23.8 107
Ras-related protein Rab-28 RAB28 Tbio Enzyme -1.16196 16.1 80