Development Level

Tbio 179 | 11,651
Tchem 17 | 1,388
Tclin 13 | 612
Tdark 6 | 6,593

Collection

Ion Channel: IDG Consortium (T... 2 | 99
RFA-RM-18-021 2 | 328

IMPC Phenotype

preweaning lethality, complete... 20 | 979
increased or absent threshold ... 14 | 101
embryonic lethality prior to t... 9 | 278
preweaning lethality, incomple... 9 | 499
abnormal behavior 7 | 298
decreased body weight 7 | 161
decreased prepulse inhibition 7 | 82
decreased startle reflex 6 | 75
absent pinna reflex 5 | 23
absent startle reflex 5 | 24
increased circulating alkaline... 5 | 122
abnormal embryo size 4 | 220
decreased mean corpuscular vol... 4 | 79
decreased total body fat amoun... 4 | 207
embryonic lethality prior to o... 4 | 239
enlarged heart 4 | 210
hyperactivity 4 | 148
increased circulating sodium l... 4 | 71
increased lean body mass 4 | 172
increased mean corpuscular hem... 4 | 96
tremors 4 | 39
abnormal ear morphology 3 | 9
abnormal lens morphology 3 | 81
abnormal vibrissa morphology 3 | 25
cataract 3 | 92
decreased circulating amylase ... 3 | 28
decreased circulating fructosa... 3 | 30
decreased circulating glucose ... 3 | 126
decreased circulating triglyce... 3 | 79
decreased fasted circulating g... 3 | 65
decreased hemoglobin content 3 | 68
embryonic growth retardation 3 | 106
improved glucose tolerance 3 | 79
increased circulating choleste... 3 | 66
increased leukocyte cell numbe... 3 | 47
increased total body fat amoun... 3 | 134
persistence of hyaloid vascula... 3 | 33
prenatal lethality prior to he... 3 | 87
small adrenal glands 3 | 16
abnormal bone structure 2 | 187
abnormal craniofacial morpholo... 2 | 33
abnormal embryo turning 2 | 31
abnormal kidney morphology 2 | 65
abnormal retina morphology 2 | 71
abnormal sensory capabilities-... 2 | 8
abnormal tibia morphology 2 | 14
decreased basophil cell number 2 | 16
decreased bone mineral content 2 | 151
decreased circulating bilirubi... 2 | 19
decreased circulating free fat... 2 | 31
decreased circulating serum al... 2 | 82
decreased grip strength 2 | 116
decreased hematocrit 2 | 46
decreased lean body mass 2 | 135
decreased mean corpuscular hem... 2 | 50
decreased mean platelet volume 2 | 25
decreased vertical activity 2 | 208
hypoactivity 2 | 132
impaired glucose tolerance 2 | 75
impaired righting response 2 | 26
increased blood urea nitrogen ... 2 | 48
increased circulating HDL chol... 2 | 80
increased circulating phosphat... 2 | 26
increased circulating triglyce... 2 | 42
increased hemoglobin content 2 | 45
increased mean corpuscular hem... 2 | 36
increased mean platelet volume 2 | 45
increased startle reflex 2 | 112
increased thermal nociceptive ... 2 | 9
increased vertical activity 2 | 24
limb grasping 2 | 41
pallor 2 | 34
polycystic kidney 2 | 15
short tibia 2 | 97
stereotypic behavior 2 | 3
thrombocytopenia 2 | 56
trunk curl 2 | 16
abnormal behavioral response t... 1 | 66
abnormal body wall morphology 1 | 9
abnormal cranium morphology 1 | 36
abnormal gait 1 | 69
abnormal lung morphology 1 | 26
abnormal retinal vasculature m... 1 | 27
abnormal seminal vesicle morph... 1 | 114
abnormal whole-body plethysmog... 1 | 4
absent vibrissae 1 | 12
decreased body length 1 | 101
decreased circulating potassiu... 1 | 20
decreased eosinophil cell numb... 1 | 24
decreased red blood cell distr... 1 | 41
increased circulating amylase ... 1 | 25
increased circulating bilirubi... 1 | 16
increased circulating calcium ... 1 | 34
increased circulating chloride... 1 | 41
increased circulating iron lev... 1 | 30
increased circulating potassiu... 1 | 29
increased circulating serum al... 1 | 22
increased fasted circulating g... 1 | 76
increased mean corpuscular vol... 1 | 92
long tibia 1 | 25

Disease

Carcinoma 167 | 11,493
ovarian cancer 109 | 8,520
Nonsyndromic deafness 104 | 142
Autosomal recessive predisposition 98 | 1,442
osteosarcoma 92 | 7,950
Sensorineural Hearing Loss (disorder) 91 | 284
psoriasis 90 | 6,694
medulloblastoma, large-cell 82 | 6,241
lung cancer 77 | 4,740
Sensorineural hearing loss 73 | 106
glioblastoma 69 | 5,792
atypical teratoid / rhabdoid tumor 68 | 5,112
ependymoma 63 | 4,679
Breast cancer 60 | 3,578
Kidney cancer 55 | 2,613
Deafness 52 | 198
group 3 medulloblastoma 52 | 4,104
Astrocytoma, Pilocytic 51 | 3,081
adult high grade glioma 50 | 3,801
hearing impairment 50 | 199
intraductal papillary-mucinous neoplasm (IPMN) 49 | 3,291
Intellectual disability 48 | 1,016
non-small cell lung cancer 48 | 2,890
malignant mesothelioma 47 | 3,232
Congenital deafness 44 | 185
Hearing Loss, Partial 44 | 185
pituitary cancer 44 | 1,972
lung carcinoma 43 | 2,843
intraductal papillary-mucinous adenoma (IPMA) 42 | 2,955
invasive ductal carcinoma 42 | 2,951
interstitial cystitis 41 | 2,312
primitive neuroectodermal tumor 41 | 3,035
Dull intelligence 40 | 645
Low intelligence 40 | 645
Mental Retardation 40 | 645
Mental deficiency 40 | 645
Poor school performance 40 | 645
lung adenocarcinoma 40 | 2,716
oligodendroglioma 40 | 2,850
Cancer 39 | 2,499
Cataract 39 | 297
intraductal papillary-mucinous carcinoma (IPMC) 39 | 2,989
Short stature 37 | 531
Muscle hypotonia 35 | 571
Cognitive delay 34 | 608
Global developmental delay 34 | 608
Lens Opacities 34 | 231
Mental and motor retardation 34 | 608
Cerebellar Ataxia 33 | 304
pancreatic cancer 33 | 2,398
cystic fibrosis 32 | 1,696
Epilepsy 30 | 792
Nystagmus 30 | 317
Melanoma 29 | 711
astrocytic glioma 29 | 2,597
breast carcinoma 28 | 1,638
colon cancer 28 | 1,478
subependymal giant cell astrocytoma 28 | 2,287
Neuropathy 27 | 261
ductal carcinoma in situ 27 | 1,745
tuberculosis 27 | 2,010
Retinitis Pigmentosa 26 | 226
Skin cancer 26 | 469
Pick disease 25 | 1,894
ulcerative colitis 25 | 1,819
Optic Atrophy 24 | 242
adrenocortical carcinoma 24 | 1,428
spina bifida 24 | 1,074
Strabismus 23 | 270
astrocytoma 23 | 1,146
diabetes mellitus 23 | 1,728
group 4 medulloblastoma 23 | 1,855
Broad flat nasal bridge 22 | 236
Concave bridge of nose 22 | 195
Depressed nasal bridge 22 | 195
Depressed nasal root/bridge 22 | 195
Nasal bridge wide 22 | 236
Seizures 22 | 596
Liver cancer 21 | 604
Small head 21 | 374
pancreatic ductal adenocarcinoma liver metastasis 21 | 1,962
Hypoplastic mandible condyle 20 | 275
Low Vision 20 | 174
Mandibular hypoplasia 20 | 275
Micrognathism 20 | 275
Myopia 20 | 176
Visual Impairment 20 | 174
Cleft Palate 19 | 271
Hodgkin's lymphoma, nodular sclerosis 19 | 22
Multiple myeloma 19 | 1,332
Anteverted nostril 18 | 191
Blepharoptosis 18 | 231
Hearing loss, progressive sensorineural 18 | 23
Orbital separation excessive 18 | 244
Peripheral Neuropathy 18 | 134
Usher syndrome 18 | 32
acute quadriplegic myopathy 18 | 1,158
Motor delay 17 | 147
Rheumatoid arthritis 17 | 1,191
Schizophrenia 17 | 1,160

Tissue

Endocrine System 212 | 18,159
Digestive Tract 206 | 17,369
Male tissues 206 | 17,142
Female tissues 205 | 17,400
Skin and soft tissues 204 | 17,230
Liver and Pancreas 202 | 16,750
Nervous System 199 | 16,725
Blood and immune system 198 | 16,909
Urinary Tract 197 | 16,678
Respiratory system 192 | 16,393
Cardiovascular System 178 | 15,192

Target Family

Non-IDG 120 | 12,091
Enzyme 46 | 4,145
Transcription Factor 15 | 1,400
Ion Channel 11 | 344
Transporter 11 | 473
Kinase 7 | 634
GPCR 3 | 408
Nuclear Receptor 2 | 48

UniProt Keyword

Deafness 215 | 215
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 
Gap junction beta-6 protein GJB6 Tbio Non-IDG -2.99235 908.9 170
Solute carrier family 52, riboflavin transporter, member 3 SLC52A3 Tbio Transporter -1.82473 71.3 31
AMME syndrome candidate gene 1 protein AMMECR1 Tbio Non-IDG -0.63077 4.76 84
Potassium voltage-gated channel subfamily E member 1 KCNE1 Tbio Ion Channel -2.67495 441.7 193
V-type proton ATPase subunit B, kidney isoform ATP6V1B1 Tchem Enzyme -1.71459 43.7 251
Voltage-dependent L-type calcium channel subunit alpha-1D CACNA1D Tclin Ion Channel -2.43448 273.2 215
Usher syndrome type-1G protein USH1G Tbio Non-IDG -1.64281 40.2 24
Progressive ankylosis protein homolog ANKH Tbio Non-IDG -2.03140 109.5 89
T-box transcription factor TBX22 TBX22 Tbio Transcription Factor -2.14590 142.1 138
Collagen alpha-3(IV) chain COL4A3 Tbio Non-IDG -2.32017 204.4 209