Development Level

Tbio 7 | 10,625

IMPC Term

abnormal testis morphology 1 | 30
enlarged uterus 1 | 3
hydrometra 1 | 13
male infertility 1 | 62
small superior vagus ganglion 1 | 20
small testis 1 | 37

Disease

Nephronophthisis 7 | 74
Renal dysplasia and retinal aplasia (disorder) 7 | 10
Leber congenital amaurosis 6 | 72
Senior-Loken syndrome 6 | 21
Bardet-Biedl Syndrome 4 | 40
Ciliopathy 4 | 57
Cystic kidney disease 4 | 25
Polydactyly 4 | 93
Retinitis pigmentosa 4 | 153
ovarian cancer 4 | 8,484
Fundus dystrophy 3 | 77
osteosarcoma 3 | 7,933
psoriasis 3 | 6,685
Asphyxiating thoracic dystrophy 2 | 32
Blindness 2 | 84
Cogan syndrome 2 | 4
End stage renal failure 2 | 5
Familial juvenile hyperuricemic nephropathy 2 | 6
Joubert syndrome 2 | 61
Meckel syndrome 2 | 48
Obesity 2 | 616
Situs Inversus 2 | 48
chronic rhinosinusitis 2 | 512
group 3 medulloblastoma 2 | 2,254
lung cancer 2 | 4,466
malignant mesothelioma 2 | 3,162
Acrofacial dysostosis 1 | 8
Apraxia 1 | 25
BARDET-BIEDL SYNDROME 14 (disorder) 1 | 1
CRANIOECTODERMAL DYSPLASIA 4 1 | 1
Carcinoma 1 | 2,147
Caroli disease 1 | 7
Choledochal cyst 1 | 3
Coloboma 1 | 51
Cone dystrophy 1 | 57
Cranioectodermal Dysplasia 1 | 4
Cystic Kidney Diseases 1 | 6
Ellis-Van Creveld syndrome 1 | 18
Familial aplasia of the vermis 1 | 8
Intellectual disability 1 | 573
JOUBERT SYNDROME 4 (disorder) 1 | 1
JOUBERT SYNDROME 5 1 | 1
Jeune thoracic dystrophy 1 | 9
Kidney Diseases 1 | 86
LEBER CONGENITAL AMAUROSIS 10 (disorder) 1 | 1
MECKEL SYNDROME, TYPE 4 1 | 1
Meckel-Gruber syndrome 1 | 15
NEPHRONOPHTHISIS 13 1 | 1
NEPHRONOPHTHISIS 4 1 | 1
Nephronophthisis, familial juvenile 1 | 1
Pick disease 1 | 1,893
Retinal Degeneration 1 | 49
Retinal Diseases 1 | 21
SENIOR-LOKEN SYNDROME 4 1 | 1
SENIOR-LOKEN SYNDROME 6 1 | 1
SENIOR-LOKEN SYNDROME 7 1 | 1
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 1 | 1
Schizophrenia 1 | 501
Senior-Loken Syndrome 5 1 | 1
Sensenbrenner syndrome 1 | 15
Verbal auditory agnosia 1 | 2
active Crohn's disease 1 | 918
astrocytic glioma 1 | 2,241
astrocytoma 1 | 1,493
atypical teratoid / rhabdoid tumor 1 | 4,369
atypical teratoid/rhabdoid tumor 1 | 1,095
cone-rod dystrophy 1 | 56
ependymoma 1 | 2,514
glioblastoma 1 | 5,572
head and neck cancer and chronic obstructive pulmonary disease 1 | 237
intraductal papillary-mucinous adenoma (IPMA) 1 | 2,956
intraductal papillary-mucinous carcinoma (IPMC) 1 | 2,988
pediatric high grade glioma 1 | 2,712
pituitary cancer 1 | 1,972
posterior fossa group B ependymoma 1 | 1,530
progressive supranuclear palsy 1 | 674
renal-hepatic-pancreatic dysplasia 1 | 8
sonic hedgehog group medulloblastoma 1 | 1,482
tuberculosis 1 | 1,557

Tissue

Blood and immune system 7 | 17,995
Cardiovascular System 7 | 17,958
Digestive Tract 7 | 18,473
Endocrine System 7 | 18,512
Female tissues 7 | 18,647
Liver and Pancreas 7 | 18,136
Male tissues 7 | 17,969
Nervous System 7 | 18,561
Respiratory system 7 | 17,484
Skin and soft tissues 7 | 18,115
Urinary Tract 7 | 18,444

Target Family

Non-IDG 7 | 11,971

UniProt Keyword

Senior-Loken syndrome 7 | 7
Complete proteome 20,114 | 20,114
Reference proteome 20,114 | 20,114
Polymorphism 12,039 | 12,039
Alternative splicing 10,512 | 10,512
Phosphoprotein 8,194 | 8,194
Membrane 7,179 | 7,179
3D-structure 5,887 | 5,887
Transmembrane 5,214 | 5,214
Transmembrane helix 5,194 | 5,194
Nucleus 5,156 | 5,156
Repeat 4,899 | 4,899
Cytoplasm 4,782 | 4,782
Glycoprotein 4,612 | 4,612
Metal-binding 3,614 | 3,614
Signal 3,487 | 3,487
Disulfide bond 3,472 | 3,472
Acetylation 3,372 | 3,372
Cell membrane 3,182 | 3,182
Direct protein sequencing 2,852 | 2,852
Disease mutation 2,540 | 2,540
Transcription 2,375 | 2,375
Zinc 2,340 | 2,340
Transcription regulation 2,309 | 2,309
Coiled coil 2,142 | 2,142
DNA-binding 1,998 | 1,998
Transport 1,964 | 1,964
Secreted 1,941 | 1,941
Zinc-finger 1,784 | 1,784
Nucleotide-binding 1,769 | 1,769
Ubl conjugation 1,741 | 1,741
Hydrolase 1,640 | 1,640
Transferase 1,592 | 1,592
Receptor 1,496 | 1,496
ATP-binding 1,377 | 1,377
Cytoskeleton 1,130 | 1,130
Mitochondrion 1,115 | 1,115
Isopeptide bond 1,112 | 1,112
Endoplasmic reticulum 1,071 | 1,071
Methylation 962 | 962
Developmental protein 943 | 943
Transducer 886 | 886
Calcium 864 | 864
G-protein coupled receptor 830 | 830
Golgi apparatus 819 | 819
Lipoprotein 813 | 813
Cell projection 718 | 718
Cell junction 672 | 672
Ubl conjugation pathway 669 | 669
RNA-binding 663 | 663
Differentiation 661 | 661
Activator 657 | 657
Cell cycle 637 | 637
Kinase 637 | 637
Ion transport 628 | 628
Protein transport 604 | 604
Sensory transduction 600 | 600
Repressor 589 | 589
Immunity 571 | 571
Oxidoreductase 571 | 571
Immunoglobulin domain 546 | 546
Magnesium 543 | 543
Transit peptide 535 | 535
Protease 531 | 531
Apoptosis 529 | 529
Endosome 488 | 488
Cytoplasmic vesicle 487 | 487
Cell adhesion 482 | 482
Host-virus interaction 452 | 452
Signal-anchor 452 | 452
Olfaction 436 | 436
Lipid metabolism 427 | 427
Serine/threonine-protein kinas... 388 | 388
Cell division 372 | 372
Chromosome 361 | 361
Synapse 356 | 356
Ion channel 349 | 349
DNA damage 347 | 347
GTP-binding 338 | 338
Ligase 332 | 332
mRNA processing 326 | 326
Palmitate 322 | 322
Chromosomal rearrangement 320 | 320
Iron 318 | 318
Leucine-rich repeat 310 | 310
Mental retardation 299 | 299
Cleavage on pair of basic resi... 296 | 296
Neurodegeneration 292 | 292
DNA repair 288 | 288
Chromatin regulator 285 | 285
Ribonucleoprotein 280 | 280
Microtubule 279 | 279
WD repeat 278 | 278
Lysosome 275 | 275
Actin-binding 271 | 271
Mitochondrion inner membrane 268 | 268
Mitosis 262 | 262
ANK repeat 258 | 258
Extracellular matrix 258 | 258
Innate immunity 256 | 256
mRNA splicing 255 | 255

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Centrosomal protein of 290 kDa CEP290 Tbio Non-IDG -1.97186 101.3 125
Nephrocystin-4 NPHP4 Tbio Non-IDG -1.39275 26.0 48
Nephrocystin-1 NPHP1 Tbio Non-IDG -1.70748 50.8 88
WD repeat-containing protein 19 WDR19 Tbio Non-IDG -1.10898 13.4 74
IQ calmodulin-binding motif-containing protein 1 IQCB1 Tbio Non-IDG -1.53336 37.6 118
TRAF3-interacting protein 1 TRAF3IP1 Tbio Non-IDG -0.83977 10.2 147
Serologically defined colon cancer antigen 8 SDCCAG8 Tbio Non-IDG -1.13795 14.8 162