Development Level

Tbio 15 | 11,445
Tchem 1 | 1,598

IMPC Phenotype

preweaning lethality, incomple... 2 | 499
abnormal embryo size 1 | 220
abnormal skin morphology 1 | 50
abnormal tooth morphology 1 | 24
decreased circulating sodium l... 1 | 22
embryonic lethality prior to t... 1 | 278
prenatal lethality prior to he... 1 | 87

Disease

Epidermolysis bullosa 16 | 21
Autosomal recessive predisposition 15 | 1,442
Carcinoma 15 | 11,493
Breast cancer 12 | 3,578
Dystrophia unguium 12 | 53
Atrophic scar 11 | 18
Nail dysplasia 11 | 52
non-small cell lung cancer 11 | 2,890
Milium Cyst 10 | 16
malignant mesothelioma 10 | 3,232
Dental Enamel Hypoplasia 9 | 43
Kidney cancer 9 | 2,613
Oral mucosal blistering 9 | 10
Prenatal onset 9 | 139
lung cancer 9 | 4,740
osteosarcoma 9 | 7,950
ANONYCHIA 8 | 20
Abnormal blistering of the skin 8 | 54
Anemia 8 | 365
Aplasia Cutis Congenita 8 | 14
Blister of skin 8 | 54
Cancer 8 | 2,499
Congenital scar 8 | 13
Defective enamel matrix 8 | 35
Dental caries 8 | 164
Dysplasia of tooth enamel 8 | 35
Hemoglobin low 8 | 124
Rotting teeth 8 | 73
Skin bulla 8 | 54
Thin dental enamel 8 | 35
interstitial cystitis 8 | 2,312
lung carcinoma 8 | 2,843
pancreatic cancer 8 | 2,398
psoriasis 8 | 6,694
Fragile skin 7 | 18
Scarring alopecia of scalp 7 | 13
Skin Erosion 7 | 12
breast carcinoma 7 | 1,638
ependymoma 7 | 4,679
esophageal adenocarcinoma 7 | 737
intraductal papillary-mucinous carcinoma (IPMC) 7 | 2,989
Abnormal pigmentation 6 | 25
Death in early childhood 6 | 82
Death in infancy 6 | 82
Failure to gain weight 6 | 365
Fragile nails 6 | 16
Junctional split 6 | 6
Pediatric failure to thrive 6 | 365
Plantar hyperkeratosis 6 | 7
glioblastoma 6 | 5,792
intraductal papillary-mucinous neoplasm (IPMN) 6 | 3,291
lung adenocarcinoma 6 | 2,716
ovarian cancer 6 | 8,520
Adult junctional epidermolysis bullosa (disorder) 5 | 5
Bullous pemphigoid 5 | 18
Dehydration 5 | 40
Epidermolysis Bullosa, Junctional, Non-Herlitz Type 5 | 5
Flexion contracture of proximal interphalangeal joint 5 | 75
Hypodontia 5 | 81
Junctional epidermolysis bullosa 5 | 7
Palmar hyperhidrosis 5 | 5
Sparse body hair 5 | 32
astrocytic glioma 5 | 2,597
cystic fibrosis 5 | 1,696
group 4 medulloblastoma 5 | 1,855
intraductal papillary-mucinous adenoma (IPMA) 5 | 2,955
invasive ductal carcinoma 5 | 2,951
oligodendroglioma 5 | 2,850
pancreatic ductal adenocarcinoma liver metastasis 5 | 1,962
Alopecia 4 | 115
Congenital localized absence of skin 4 | 6
Ectropion 4 | 38
Epidermolysis Bullosa, Junctional 4 | 4
Epidermolysis bullosa simplex 4 | 9
Esophageal Stenosis 4 | 15
Feeding difficulties 4 | 127
Growth delay 4 | 114
Growth failure 4 | 114
Growth retardation 4 | 115
Nail Diseases 4 | 24
Palmoplantar keratosis 4 | 74
Poor growth 4 | 114
Recurrent skin infections 4 | 21
Urethral Stricture 4 | 18
Very poor growth 4 | 114
cutaneous lupus erythematosus 4 | 1,057
ductal carcinoma in situ 4 | 1,745
medulloblastoma, large-cell 4 | 6,241
Arthrogryposis 3 | 54
Breast Neoplasms 3 | 445
Ecchymosis 3 | 66
Flexion contractures of joints 3 | 93
Hydronephrosis 3 | 89
Hyperhidrosis disorder 3 | 81
Increased tendency to bruise 3 | 66
Mammary Neoplasms 3 | 425
Polyhydramnios 3 | 108
Pyloric Stenosis 3 | 47
Renal dysplasia 3 | 28
Sweating 3 | 81

Tissue

Blood and immune system 16 | 16,909
Digestive Tract 16 | 17,369
Endocrine System 16 | 18,159
Female tissues 16 | 17,400
Male tissues 16 | 17,142
Nervous System 16 | 16,725
Respiratory system 16 | 16,393
Skin and soft tissues 16 | 17,230
Urinary Tract 16 | 16,678
Liver and Pancreas 15 | 16,750
Cardiovascular System 14 | 15,192

Target Family

Non-IDG 16 | 12,091

UniProt Keyword

Epidermolysis bullosa 16 | 16
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 
Collagen alpha-1(XVII) chain COL17A1 Tbio Non-IDG -2.75473 576.3 123
Kelch-like protein 24 KLHL24 Tbio Non-IDG -1.02438 10.2 69
CD151 antigen CD151 Tbio Non-IDG -2.40013 244.5 420
Desmoplakin DSP Tbio Non-IDG -2.95735 853.9 198
Keratin, type I cytoskeletal 14 KRT14 Tbio Non-IDG -2.90790 721.6 780
Keratin, type II cytoskeletal 5 KRT5 Tbio Non-IDG -2.87489 691.1 885
Exophilin-5 EXPH5 Tbio Non-IDG -0.80277 6.39 25
Dystonin DST Tbio Non-IDG -2.73231 506.0 127
Plectin PLEC Tbio Non-IDG -2.50749 337.2 130
Integrin beta-4 ITGB4 Tbio Non-IDG -2.26591 177.4 704