Development Level

Tbio 93 | 11,445
Tchem 11 | 1,598
Tclin 6 | 613
Tdark 4 | 6,588

IMPC Phenotype

enlarged heart 4 | 210
preweaning lethality, incomple... 4 | 499
abnormal behavior 3 | 298
hyperactivity 3 | 148
hypoactivity 3 | 132
shortened RR interval 3 | 17
abnormal behavioral response t... 2 | 66
abnormal heart morphology 2 | 162
absent startle reflex 2 | 24
convulsive seizures 2 | 13
decreased circulating triglyce... 2 | 79
decreased leukocyte cell numbe... 2 | 73
decreased vertical activity 2 | 208
impaired pupillary reflex 2 | 26
increased heart rate 2 | 23
increased heart weight 2 | 62
increased hematocrit 2 | 46
increased leukocyte cell numbe... 2 | 47
increased mean corpuscular hem... 2 | 96
increased mean corpuscular vol... 2 | 92
increased or absent threshold ... 2 | 101
limb grasping 2 | 41
preweaning lethality, complete... 2 | 979
prolonged PR interval 2 | 15
short tibia 2 | 97
abnormal eye morphology 1 | 68
abnormal gait 1 | 69
abnormal heart left ventricle ... 1 | 16
abnormal liver morphology 1 | 17
abnormal pupil morphology 1 | 2
abnormal retina morphology 1 | 71
abnormal retinal blood vessel ... 1 | 26
abnormal skin morphology 1 | 50
abnormal sleep behavior 1 | 70
abnormal vibrissa morphology 1 | 25
abnormal whole-body plethysmog... 1 | 4
cardiovascular system phenotyp... 1 | 36
cataract 1 | 92
decreased body weight 1 | 161
decreased bone mineral content 1 | 151
decreased bone mineral density 1 | 126
decreased circulating amylase ... 1 | 28
decreased circulating calcium ... 1 | 36
decreased circulating creatini... 1 | 39
decreased circulating free fat... 1 | 31
decreased circulating insulin ... 1 | 76
decreased coping response 1 | 8
decreased exploration in new e... 1 | 11
decreased fasted circulating g... 1 | 65
decreased grip strength 1 | 116
decreased heart rate variabili... 1 | 13
decreased heart weight 1 | 27
decreased lean body mass 1 | 135
decreased lymphocyte cell numb... 1 | 83
decreased prepulse inhibition 1 | 82
decreased respiratory quotient 1 | 16
decreased spleen weight 1 | 10
decreased startle reflex 1 | 75
embryonic lethality prior to o... 1 | 239
enlarged spleen 1 | 41
enlarged uterus 1 | 11
impaired glucose tolerance 1 | 75
increased blood uric acid leve... 1 | 5
increased cellular hemoglobin ... 1 | 1
increased circulating alanine ... 1 | 13
increased circulating alkaline... 1 | 122
increased circulating aspartat... 1 | 15
increased circulating glucose ... 1 | 24
increased circulating potassiu... 1 | 29
increased circulating triglyce... 1 | 42
increased fasted circulating g... 1 | 76
increased grip strength 1 | 41
increased hemoglobin content 1 | 45
increased kidney weight 1 | 6
increased lean body mass 1 | 172
increased lymphocyte cell numb... 1 | 32
increased monocyte cell number 1 | 63
increased prepulse inhibition 1 | 32
increased startle reflex 1 | 112
increased total body fat amoun... 1 | 134
increased urine magnesium leve... 1 | 2
macrophthalmia 1 | 2
mydriasis 1 | 6
shortened PR interval 1 | 6
thrombocytopenia 1 | 56
vertebral fusion 1 | 23

Disease

Carcinoma 77 | 11,493
Retinitis Pigmentosa 58 | 226
Autosomal recessive predisposition 47 | 1,442
Night Blindness 44 | 101
Nystagmus 44 | 317
Electroretinogram abnormal 41 | 95
Photodysphoria 41 | 121
Photophobia 41 | 121
Difficulties with night vision 40 | 87
Fundus dystrophy 40 | 83
Abnormality of retinal pigmentation 38 | 111
Retinal Degeneration 38 | 106
Retinal pigment epithelial abnormality 38 | 111
Blindness 37 | 88
Cataract 37 | 297
psoriasis 37 | 6,694
Cone dystrophy 35 | 71
Intellectual disability 35 | 1,016
Lens Opacities 34 | 231
Low Vision 34 | 174
Visual Impairment 34 | 174
Obesity 33 | 678
Dull intelligence 31 | 645
Low intelligence 31 | 645
Mental Retardation 31 | 645
Mental deficiency 31 | 645
Poor school performance 31 | 645
osteosarcoma 31 | 7,950
Glaucoma 30 | 239
Reduced visual acuity 30 | 63
medulloblastoma, large-cell 30 | 6,241
Blind Vision 28 | 111
Blindness, Legal 28 | 110
Congenital hypoplasia of penis 28 | 176
Hypogonadism 28 | 173
Keratoconus 28 | 113
Optic Atrophy 28 | 242
ovarian cancer 28 | 8,520
Sensorineural Hearing Loss (disorder) 27 | 284
group 3 medulloblastoma 27 | 4,104
Kidney cancer 26 | 2,613
cone-rod dystrophy 25 | 59
Abnormality of the retinal vasculature 24 | 59
Anteverted nostril 24 | 191
Broad flat nasal bridge 24 | 236
Nasal bridge wide 24 | 236
Ophthalmoplegia 24 | 106
Atypical scarring of skin 23 | 62
Conductive hearing loss 23 | 123
Congenital anomaly of testis 23 | 52
Hyperinsulinism 23 | 133
Night blindness, progressive 23 | 51
ependymoma 23 | 4,679
Color vision defect 21 | 33
Myopia 21 | 176
atypical teratoid / rhabdoid tumor 21 | 5,112
glioblastoma 21 | 5,792
Abnormal color vision 20 | 31
Color vision defect, severe 20 | 31
Leber congenital amaurosis 20 | 69
adult high grade glioma 18 | 3,801
astrocytic glioma 17 | 2,597
Breast cancer 16 | 3,578
oligodendroglioma 16 | 2,850
lung cancer 14 | 4,740
lung carcinoma 14 | 2,843
primitive neuroectodermal tumor 14 | 3,035
Congenital stationary night blindness 13 | 29
lung adenocarcinoma 13 | 2,716
Abnormality of macular pigmentation 12 | 16
Cone/cone-rod dystrophy 12 | 20
Hyperopia 12 | 70
Macular pigmentary changes 12 | 16
Night blindness, congenital stationary 12 | 16
Visual field constriction 12 | 36
Pick disease 11 | 1,894
Severe myopia 11 | 22
malignant mesothelioma 11 | 3,232
pituitary cancer 11 | 1,972
Achromatopsia 10 | 16
Astrocytoma, Pilocytic 10 | 3,081
Ciliopathy 10 | 71
Epilepsy 10 | 792
Nystagmus, continuous pendular 10 | 14
Pendular Nystagmus 10 | 14
Strabismus 10 | 270
Age related macular degeneration 9 | 72
Attenuation of retinal blood vessels 9 | 16
Bardet-Biedl syndrome 9 | 51
Bardet-Biedl syndrome 1 9 | 22
Enhanced S-cone syndrome 9 | 17
Hypoplasia of optic disc 9 | 12
Macular degeneration 9 | 65
Melanoma 9 | 711
Oguchi disease 9 | 10
Pallor of optic disc 9 | 39
Severe visual impairment 9 | 16
diabetes mellitus 9 | 1,728
group 4 medulloblastoma 9 | 1,855
pancreatic cancer 9 | 2,398

Tissue

Endocrine System 105 | 18,159
Digestive Tract 96 | 17,369
Skin and soft tissues 93 | 17,230
Nervous System 90 | 16,725
Blood and immune system 87 | 16,909
Male tissues 87 | 17,142
Female tissues 86 | 17,400
Urinary Tract 83 | 16,678
Liver and Pancreas 81 | 16,750
Respiratory system 76 | 16,393
Cardiovascular System 58 | 15,192

Target Family

Non-IDG 56 | 12,091
Enzyme 20 | 4,145
GPCR 10 | 408
Transcription Factor 8 | 1,400
Ion Channel 7 | 344
Kinase 6 | 634
Transporter 5 | 473
Nuclear Receptor 2 | 48

UniProt Keyword

Vision 114 | 114
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 
Bardet-Biedl syndrome 4 protein BBS4 Tbio Non-IDG -1.53435 31.5 200
Neural retina-specific leucine zipper protein NRL Tbio Transcription Factor -2.46080 279.4 74
Photoreceptor-specific nuclear receptor NR2E3 Tbio Nuclear Receptor 0.00000 261
G-protein coupled receptor 98 ADGRV1 Tbio GPCR -2.51228 316.6 64
Cone-rod homeobox protein CRX Tbio Transcription Factor -2.44826 272.0 185
Myosin-IIIb MYO3B Tbio Kinase -0.73450 5.14 127
Retinal guanylyl cyclase 1 GUCY2D Tbio Kinase -2.20658 167.7 205
Sodium/potassium/calcium exchanger 2 SLC24A2 Tbio Transporter -1.39605 25.7 32
Rhodopsin kinase GRK7 Tchem Kinase -1.83396 45.0 180
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha PDE6A Tclin Enzyme -1.29228 20.3 111