Development Level

Tbio 21 | 11,445
Tchem 2 | 1,598
Tclin 1 | 613

IMPC Phenotype

abnormal bone mineralization 2 | 38
abnormal bone structure 2 | 187
abnormal behavior 1 | 298
abnormal locomotor activation 1 | 16
abnormal pupil morphology 1 | 2
abnormal skin morphology 1 | 50
absent pinna reflex 1 | 23
decreased body weight 1 | 161
decreased fasted circulating g... 1 | 65
decreased leukocyte cell numbe... 1 | 73
decreased vertical activity 1 | 208
enlarged heart 1 | 210
enlarged spleen 1 | 41
enlarged uterus 1 | 11
hyperactivity 1 | 148
hypoactivity 1 | 132
impaired pupillary reflex 1 | 26
impaired righting response 1 | 26
increased blood urea nitrogen ... 1 | 48
increased circulating sodium l... 1 | 71
increased lean body mass 1 | 172
increased leukocyte cell numbe... 1 | 47
increased mean corpuscular vol... 1 | 92
increased or absent threshold ... 1 | 101
increased thermal nociceptive ... 1 | 9
increased total body fat amoun... 1 | 134
limb grasping 1 | 41
persistence of hyaloid vascula... 1 | 33
preweaning lethality, complete... 1 | 979
preweaning lethality, incomple... 1 | 499
stereotypic behavior 1 | 3
trunk curl 1 | 16

Disease

Leber congenital amaurosis 24 | 69
Carcinoma 19 | 11,493
Retinitis Pigmentosa 18 | 226
Fundus dystrophy 15 | 83
Nystagmus 14 | 317
Retinal Degeneration 14 | 106
Abnormality of retinal pigmentation 13 | 111
Blindness 13 | 88
Electroretinogram abnormal 13 | 95
Retinal pigment epithelial abnormality 13 | 111
Autosomal recessive predisposition 12 | 1,442
Night Blindness 12 | 101
Cataract 11 | 297
Cone dystrophy 11 | 71
Lens Opacities 11 | 231
Cerebellar vermis aplasia or hypoplasia 10 | 12
Cerebellar vermis aplasia/ hypoplasia 10 | 12
Congenital cerebral hernia 10 | 21
Difficulties with night vision 10 | 87
Epilepsy 10 | 792
Hemiplegia and hemiparesis 10 | 38
Intellectual disability 10 | 1,016
Keratoconus 10 | 113
Low Vision 10 | 174
Malformations of Cortical Development, Group II 10 | 31
Muscle hypotonia 10 | 571
Optic disc abnormalities 10 | 12
Seizures 10 | 596
Severe visual impairment 10 | 16
Visual Impairment 10 | 174
osteosarcoma 10 | 7,950
psoriasis 10 | 6,694
Blind Vision 9 | 111
Dull intelligence 9 | 645
Low intelligence 9 | 645
Mental Retardation 9 | 645
Mental deficiency 9 | 645
Photodysphoria 9 | 121
Photophobia 9 | 121
Poor school performance 9 | 645
cone-rod dystrophy 9 | 59
Blindness, Legal 8 | 110
Obesity 8 | 678
Sensorineural Hearing Loss (disorder) 8 | 284
Congenital hypoplasia of penis 7 | 176
Glaucoma 7 | 239
Hypogonadism 7 | 173
Nephronophthisis 7 | 80
Optic Atrophy 7 | 242
group 3 medulloblastoma 7 | 4,104
Abnormality of the retinal vasculature 6 | 59
Anteverted nostril 6 | 191
Atypical scarring of skin 6 | 62
Broad flat nasal bridge 6 | 236
Conductive hearing loss 6 | 123
Congenital anomaly of testis 6 | 52
Enhanced S-cone syndrome 6 | 17
Hyperinsulinism 6 | 133
Nasal bridge wide 6 | 236
Night blindness, progressive 6 | 51
Ophthalmoplegia 6 | 106
Reduced visual acuity 6 | 63
Renal dysplasia and retinal aplasia (disorder) 6 | 10
Retinal Dystrophies 6 | 33
Senior-Loken syndrome 6 | 22
ependymoma 6 | 4,679
medulloblastoma, large-cell 6 | 6,241
Abnormal color vision 5 | 31
Ciliopathy 5 | 71
Color vision defect 5 | 33
Color vision defect, severe 5 | 31
Kidney cancer 5 | 2,613
Visual field constriction 5 | 36
adult high grade glioma 5 | 3,801
ovarian cancer 5 | 8,520
pituitary cancer 5 | 1,972
Cognitive delay 4 | 608
Cystic kidney disease 4 | 26
Extinguished electroretinogram 4 | 15
Global developmental delay 4 | 608
Mental and motor retardation 4 | 608
Nystagmus, continuous pendular 4 | 14
Pendular Nystagmus 4 | 14
Polydactyly 4 | 107
Severe early childhood onset retinal dystrophy 4 | 4
chronic rhinosinusitis 4 | 512
lung cancer 4 | 4,740
Bardet-Biedl syndrome 3 | 51
Bradyopsia 3 | 10
Chronic kidney disease stage 5 3 | 31
Decreased visual acuity, progressive 3 | 36
Hypertensive disease 3 | 292
Increase in blood pressure 3 | 119
Pallor of optic disc 3 | 39
Premature Menopause 3 | 31
Progressive visual loss 3 | 36
Short stature 3 | 531
astrocytic glioma 3 | 2,597
glioblastoma 3 | 5,792
malignant mesothelioma 3 | 3,232

Tissue

Endocrine System 24 | 18,159
Skin and soft tissues 24 | 17,230
Digestive Tract 23 | 17,369
Liver and Pancreas 23 | 16,750
Male tissues 23 | 17,142
Blood and immune system 22 | 16,909
Female tissues 22 | 17,400
Nervous System 21 | 16,725
Urinary Tract 19 | 16,678
Respiratory system 18 | 16,393
Cardiovascular System 14 | 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

UniProt Keyword

Leber congenital amaurosis 24 | 24
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
Retinal guanylyl cyclase 1 GUCY2D Tbio Kinase -2.20658 167.7 205
Unconventional myosin-VIIa MYO7A Tbio Non-IDG -2.14713 133.5 129
Centrosomal protein of 290 kDa CEP290 Tbio Non-IDG -2.03755 107.9 152
Aryl-hydrocarbon-interacting protein-like 1 AIPL1 Tbio Non-IDG -1.73867 59.0 229
Growth/differentiation factor 6 GDF6 Tbio Non-IDG -2.31035 205.4 110
Tubby-related protein 1 TULP1 Tbio Transcription Factor -1.65196 48.3 83
Protein crumbs homolog 1 CRB1 Tbio Non-IDG -2.21993 162.3 31
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 RPGRIP1 Tbio Enzyme -1.69109 46.2 64
TRAF3-interacting protein 1 TRAF3IP1 Tbio Non-IDG -0.90740 11.2 169