Development Level

Tbio 7 | 11,445
Tclin 2 | 613
Tchem 1 | 1,598

IMPC Phenotype

preweaning lethality, complete... 1 | 979

Disease

Hirschsprung's disease 10 | 46
Hirschsprung Disease 9 | 31
Megacolon 9 | 29
Carcinoma 8 | 11,493
Abdominal Pain 7 | 98
Constipation 7 | 181
Dyschezia 7 | 135
Intestinal Obstruction 7 | 31
ovarian cancer 7 | 8,520
Cancer 6 | 2,499
Nausea and vomiting 6 | 97
Weight decreased 6 | 103
medulloblastoma, large-cell 6 | 6,241
Intellectual disability 5 | 1,016
Muscle hypotonia 5 | 571
breast carcinoma 5 | 1,638
ependymoma 5 | 4,679
osteosarcoma 5 | 7,950
Autosomal recessive predisposition 4 | 1,442
Broad flat nasal bridge 4 | 236
Cognitive delay 4 | 608
Congenital central hypoventilation syndrome 4 | 18
Convex nasal bridge 4 | 57
Downward slant of palpebral fissure 4 | 158
Dull intelligence 4 | 645
Epilepsy 4 | 792
Global developmental delay 4 | 608
Kidney cancer 4 | 2,613
Low intelligence 4 | 645
Low set ears 4 | 181
Mental Retardation 4 | 645
Mental and motor retardation 4 | 608
Mental deficiency 4 | 645
Nasal bridge wide 4 | 236
Poor school performance 4 | 645
Posteriorly rotated ear 4 | 61
Prominent nasal bridge 4 | 57
Synophrys 4 | 40
Waardenburg's syndrome 4 | 17
atypical teratoid / rhabdoid tumor 4 | 5,112
group 3 medulloblastoma 4 | 4,104
lung cancer 4 | 4,740
oligodendroglioma 4 | 2,850
psoriasis 4 | 6,694
subependymal giant cell astrocytoma 4 | 2,287
Abnormality of vision 3 | 40
Amyotrophic lateral sclerosis 3 | 451
Astrocytoma, Pilocytic 3 | 3,081
Blonde eyebrow 3 | 5
Body Temperature Changes 3 | 10
Breast cancer 3 | 3,578
Cardiovascular Abnormalities 3 | 31
Cardiovascular Diseases 3 | 59
Central hypoventilation 3 | 8
Congenital central hypoventilation 3 | 6
Congenital deafness 3 | 185
Congenital pes cavus 3 | 88
Deafness 3 | 198
Disorder of macula of retina 3 | 6
Down syndrome 3 | 499
Feeding difficulties 3 | 127
Ganglioneuroblastoma 3 | 11
Ganglioneuroma 3 | 13
Grey eyebrow 3 | 5
Grey eyelashes 3 | 5
Hearing Loss, Partial 3 | 185
Heterochromia iridis 3 | 9
Hirschsprung disease 1 3 | 8
Hyperhidrosis disorder 3 | 81
Hypertension 3 | 396
Hypertensive disease 3 | 292
Increased sweating 3 | 81
Mouth Abnormalities 3 | 14
Multiple endocrine neoplasia type 2A 3 | 20
Multiple endocrine neoplasia type 2B 3 | 17
Olfactory lobe absence 3 | 6
Pectus excavatum 3 | 100
Poor temperature regulation 3 | 10
Premature canities 3 | 24
Seizures 3 | 596
Sensorineural Hearing Loss (disorder) 3 | 284
Sensorineural hearing loss 3 | 106
Small head 3 | 374
Sweating 3 | 81
Thin hypoplastic alae nasi 3 | 51
WAARDENBURG SYNDROME, TYPE 4A 3 | 3
Waardenburg-Shah syndrome 3 | 3
White eyebrows 3 | 5
White eyelashes 3 | 5
White forelock 3 | 12
aldosterone-producing adenoma 3 | 665
blue iris (physical finding) 3 | 17
colon cancer 3 | 1,478
hearing impairment 3 | 199
hypopigmented skin patch 3 | 59
intraductal papillary-mucinous adenoma (IPMA) 3 | 2,955
intraductal papillary-mucinous carcinoma (IPMC) 3 | 2,989
intraductal papillary-mucinous neoplasm (IPMN) 3 | 3,291
non-small cell lung cancer 3 | 2,890
ulcerative colitis 3 | 1,819

Tissue

Blood and immune system 10 | 16,909
Digestive Tract 10 | 17,369
Endocrine System 10 | 18,159
Female tissues 10 | 17,400
Liver and Pancreas 10 | 16,750
Male tissues 10 | 17,142
Nervous System 10 | 16,725
Skin and soft tissues 10 | 17,230
Urinary Tract 10 | 16,678
Cardiovascular System 9 | 15,192
Respiratory system 9 | 16,393

Target Family

Non-IDG 5 | 12,091
Transcription Factor 2 | 1,400
Enzyme 1 | 4,145
GPCR 1 | 408
Kinase 1 | 634

UniProt Keyword

Hirschsprung disease 10 | 10
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 
Endothelin-converting enzyme 1 ECE1 Tchem Enzyme -2.56360 355.0 278
Neurturin NRTN Tbio Non-IDG -2.21792 170.4 331
Endothelin-3 EDN3 Tbio Non-IDG -2.96371 794.0 219
Transcription factor SOX-10 SOX10 Tbio Transcription Factor -2.69195 478.2 389
Zinc finger E-box-binding homeobox 2 ZEB2 Tbio Transcription Factor -2.49656 262.6 474
Endothelin receptor type B EDNRB Tclin GPCR -3.27771 1756.7 324
Glial cell line-derived neurotrophic factor GDNF Tbio Non-IDG -3.34041 2403.4 393
KIF1-binding protein KIF1BP Tbio Non-IDG -1.73618 48.3 53
Neural cell adhesion molecule L1 L1CAM Tbio Non-IDG -2.67946 463.0 613
Proto-oncogene tyrosine-protein kinase receptor Ret RET Tclin Kinase -3.42801 2821.4 880