Development Level

Tbio 78 | 11,178
Tchem 10 | 1,885
Tdark 6 | 6,569
Tclin 2 | 612

Collection

Ion Channel: IDG Consortium (T... 1 | 99

IMPC Phenotype

increased or absent threshold ... 9 | 101
preweaning lethality, complete... 8 | 979
absent pinna reflex 5 | 23
decreased prepulse inhibition 5 | 82
decreased startle reflex 5 | 75
decreased body weight 4 | 161
preweaning lethality, incomple... 4 | 499
abnormal behavior 3 | 298
absent startle reflex 3 | 24
decreased circulating triglyce... 3 | 79
decreased total body fat amoun... 3 | 207
embryonic lethality prior to t... 3 | 278
hyperactivity 3 | 148
increased circulating sodium l... 3 | 71
increased lean body mass 3 | 172
abnormal craniofacial morpholo... 2 | 33
abnormal ear morphology 2 | 9
abnormal embryo size 2 | 220
decreased circulating amylase ... 2 | 28
decreased circulating free fat... 2 | 31
embryonic growth retardation 2 | 106
enlarged heart 2 | 210
impaired righting response 2 | 26
improved glucose tolerance 2 | 79
increased leukocyte cell numbe... 2 | 47
increased mean corpuscular hem... 2 | 96
increased thermal nociceptive ... 2 | 9
increased total body fat amoun... 2 | 134
increased vertical activity 2 | 24
limb grasping 2 | 41
pallor 2 | 34
prenatal lethality prior to he... 2 | 87
stereotypic behavior 2 | 3
tremors 2 | 39
trunk curl 2 | 16
abnormal behavioral response t... 1 | 66
abnormal bone mineralization 1 | 38
abnormal bone structure 1 | 187
abnormal clavicle morphology 1 | 6
abnormal coping response 1 | 1
abnormal cranium morphology 1 | 36
abnormal digestive system phys... 1 | 1
abnormal embryo turning 1 | 31
abnormal locomotor activation 1 | 16
abnormal pericardium morpholog... 1 | 26
abnormal rib morphology 1 | 10
abnormal sensory capabilities-... 1 | 8
abnormal spinal cord morpholog... 1 | 9
abnormal whole-body plethysmog... 1 | 4
decreased basophil cell number 1 | 16
decreased blood urea nitrogen ... 1 | 51
decreased bone mineral content 1 | 151
decreased circulating choleste... 1 | 93
decreased circulating fructosa... 1 | 30
decreased circulating glucose ... 1 | 126
decreased circulating insulin ... 1 | 76
decreased circulating potassiu... 1 | 20
decreased circulating serum al... 1 | 82
decreased eosinophil cell numb... 1 | 24
decreased fasted circulating g... 1 | 65
decreased grip strength 1 | 116
decreased mean corpuscular vol... 1 | 79
decreased vertical activity 1 | 208
edema 1 | 59
embryonic lethality prior to o... 1 | 239
female infertility 1 | 60
impaired glucose tolerance 1 | 75
increased blood urea nitrogen ... 1 | 48
increased bone mineral content 1 | 108
increased circulating HDL chol... 1 | 80
increased circulating alkaline... 1 | 122
increased circulating chloride... 1 | 41
increased circulating choleste... 1 | 66
increased circulating triglyce... 1 | 42
increased erythrocyte cell num... 1 | 39
increased fasted circulating g... 1 | 76
increased hemoglobin content 1 | 45
increased mean corpuscular hem... 1 | 36
increased mean corpuscular vol... 1 | 92
increased startle reflex 1 | 112
increased urine magnesium leve... 1 | 2
persistence of hyaloid vascula... 1 | 33
polycystic kidney 1 | 15
prolonged PR interval 1 | 15
small adrenal glands 1 | 16

Disease

Nonsyndromic deafness 93 | 137
Carcinoma 75 | 11,192
ovarian cancer 42 | 8,297
psoriasis 39 | 6,514
osteosarcoma 37 | 7,766
Sensorineural hearing loss 35 | 102
medulloblastoma, large-cell 34 | 6,086
Autosomal recessive predisposition 32 | 1,407
glioblastoma 29 | 5,635
ependymoma 28 | 4,559
atypical teratoid / rhabdoid tumor 27 | 4,971
Breast cancer 26 | 3,469
Astrocytoma, Pilocytic 25 | 3,006
Sensorineural Hearing Loss (disorder) 25 | 281
lung cancer 25 | 4,607
Kidney cancer 23 | 2,548
intraductal papillary-mucinous neoplasm (IPMN) 23 | 3,204
non-small cell lung cancer 23 | 2,799
adult high grade glioma 22 | 3,701
group 3 medulloblastoma 22 | 4,002
malignant mesothelioma 21 | 3,135
Deafness 20 | 193
intraductal papillary-mucinous adenoma (IPMA) 20 | 2,872
intraductal papillary-mucinous carcinoma (IPMC) 20 | 2,902
invasive ductal carcinoma 20 | 2,867
lung carcinoma 20 | 2,755
Hodgkin's lymphoma, nodular sclerosis 19 | 22
interstitial cystitis 19 | 2,237
lung adenocarcinoma 18 | 2,627
pituitary cancer 18 | 1,915
hearing impairment 17 | 194
primitive neuroectodermal tumor 17 | 2,957
oligodendroglioma 15 | 2,768
Congenital deafness 14 | 180
Hearing Loss, Partial 14 | 180
cystic fibrosis 14 | 1,629
subependymal giant cell astrocytoma 14 | 2,230
ductal carcinoma in situ 13 | 1,686
pancreatic cancer 13 | 2,322
Cancer 12 | 2,388
astrocytoma 12 | 1,113
nasopharyngeal carcinoma 12 | 1,024
ulcerative colitis 12 | 1,765
Hearing loss, progressive sensorineural 11 | 23
Skin cancer 11 | 451
astrocytic glioma 11 | 2,530
breast carcinoma 11 | 1,589
colon cancer 11 | 1,428
tuberculosis 11 | 1,963
Liver cancer 10 | 589
Melanoma 10 | 689
spina bifida 10 | 1,053
Intellectual disability 9 | 998
Rheumatoid arthritis 9 | 1,156
group 4 medulloblastoma 9 | 1,806
Cataract 8 | 290
Neuropathy 8 | 254
Retinitis Pigmentosa 8 | 223
Usher syndrome 8 | 32
Cerebellar Ataxia 7 | 302
Cognitive delay 7 | 596
Dull intelligence 7 | 634
Epilepsy 7 | 775
Global developmental delay 7 | 596
Lens Opacities 7 | 227
Low intelligence 7 | 634
Mental Retardation 7 | 634
Mental and motor retardation 7 | 596
Mental deficiency 7 | 634
Poor school performance 7 | 634
Schizophrenia 7 | 1,136
Short stature 7 | 514
adrenocortical carcinoma 7 | 1,385
pancreatic ductal adenocarcinoma liver metastasis 7 | 1,911
pediatric high grade glioma 7 | 1,035
Endometriosis 6 | 521
Infantile onset 6 | 236
Pick disease 6 | 1,856
acute quadriplegic myopathy 6 | 1,133
diabetes mellitus 6 | 1,683
primary pancreatic ductal adenocarcinoma 6 | 1,071
Abnormal vision 5 | 51
Atopic dermatitis 5 | 915
Blindness 5 | 86
Down syndrome 5 | 480
Endometrial cancer 5 | 301
Hemianopsia 5 | 15
Motor delay 5 | 144
Multiple Sclerosis 5 | 527
Neoplasm Invasiveness 5 | 151
No development of motor milestones 5 | 144
Usher Syndrome, Type 1 5 | 7
Usher Syndrome, Type I 5 | 6
X- linked recessive 5 | 106
dermatomyositis 5 | 941
esophageal adenocarcinoma 5 | 696
fibroadenoma 5 | 538
juvenile dermatomyositis 5 | 1,147
progressive supranuclear palsy 5 | 656
Asthma 4 | 370

Tissue

Endocrine System 94 | 18,159
Digestive Tract 90 | 17,369
Female tissues 90 | 17,400
Male tissues 90 | 17,142
Skin and soft tissues 90 | 17,230
Liver and Pancreas 89 | 16,750
Nervous System 88 | 16,725
Blood and immune system 87 | 16,909
Urinary Tract 85 | 16,678
Respiratory system 84 | 16,393
Cardiovascular System 72 | 15,192

Target Family

Non-IDG 63 | 12,091
Enzyme 15 | 4,145
Ion Channel 4 | 344
Kinase 4 | 634
Transcription Factor 4 | 1,400
Transporter 4 | 473
GPCR 1 | 408
Nuclear Receptor 1 | 48

UniProt Keyword

Non-syndromic deafness 96 | 96
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 
Transmembrane channel-like protein 1 TMC1 Tbio Ion Channel -1.99724 101.1 20
DmX-like protein 2 DMXL2 Tbio Non-IDG -0.92783 9.34 16
Collagen alpha-6(IV) chain COL4A6 Tbio Non-IDG -1.45656 27.4 119
Gap junction beta-2 protein GJB2 Tbio Non-IDG -3.17642 1514.7 242
Whirlin WHRN Tbio Non-IDG -1.74958 54.1 123
Probable asparagine--tRNA ligase, mitochondrial NARS2 Tbio Enzyme -1.56799 38.2 93
POU domain, class 4, transcription factor 3 POU4F3 Tbio Transcription Factor -1.80543 58.9 168
PDZ domain-containing protein GIPC3 GIPC3 Tbio Non-IDG -0.70115 6.45 127
Potassium voltage-gated channel subfamily KQT member 4 KCNQ4 Tclin Ion Channel -2.04030 109.2 258
Claudin-14 CLDN14 Tbio Non-IDG -1.58115 36.2 206