Development Level

Tbio 7 | 11,445

IMPC Phenotype

abnormal kidney morphology 1 | 65
abnormal lens morphology 1 | 81
abnormal tibia morphology 1 | 14
decreased body length 1 | 101
decreased body weight 1 | 161
decreased circulating amylase ... 1 | 28
decreased circulating bilirubi... 1 | 19
decreased circulating fructosa... 1 | 30
decreased circulating serum al... 1 | 82
decreased circulating total pr... 1 | 49
decreased erythrocyte cell num... 1 | 62
decreased heart weight 1 | 27
decreased hematocrit 1 | 46
decreased hemoglobin content 1 | 68
decreased lean body mass 1 | 135
decreased lymphocyte cell numb... 1 | 83
decreased mean corpuscular hem... 1 | 50
decreased mean corpuscular vol... 1 | 79
decreased total body fat amoun... 1 | 207
impaired glucose tolerance 1 | 75
increased blood urea nitrogen ... 1 | 48
increased circulating HDL chol... 1 | 80
increased circulating amylase ... 1 | 25
increased circulating calcium ... 1 | 34
increased circulating choleste... 1 | 66
increased circulating creatini... 1 | 38
increased circulating phosphat... 1 | 26
increased circulating triglyce... 1 | 42
increased large unstained cell... 1 | 5
increased neutrophil cell numb... 1 | 46
increased or absent threshold ... 1 | 101
increased red blood cell distr... 1 | 34
persistence of hyaloid vascula... 1 | 33
preweaning lethality, complete... 1 | 979
preweaning lethality, incomple... 1 | 499
thrombocytopenia 1 | 56

Disease

Alport syndrome 7 | 21
Proteinuria 7 | 144
Carcinoma 5 | 11,493
Congenital deafness 5 | 185
Deafness 5 | 198
Hearing Loss, Partial 5 | 185
Microscopic hematuria 5 | 9
hearing impairment 5 | 199
lung cancer 5 | 4,740
ovarian cancer 5 | 8,520
Chronic kidney disease stage 5 4 | 31
Hypertensive disease 4 | 292
Increase in blood pressure 4 | 119
Kidney cancer 4 | 2,613
Kidney disease 4 | 430
Nephritis 4 | 51
Sensorineural hearing loss 4 | 106
interstitial cystitis 4 | 2,312
psoriasis 4 | 6,694
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 3 | 3
Amme Complex 3 | 3
Anterior lenticonus 3 | 3
Anteverted nostril 3 | 191
Breast cancer 3 | 3,578
Cataract 3 | 297
Concave bridge of nose 3 | 195
Congenital hemolytic anemia 3 | 32
Corneal erosion 3 | 16
Depressed nasal bridge 3 | 195
Depressed nasal root/bridge 3 | 195
Diffuse lamellation of the glomerular basement membrane 3 | 3
Downward slant of palpebral fissure 3 | 158
Elliptocytosis found 3 | 7
Elliptocytosis, Hereditary 3 | 9
Hair shaft abnormalities 3 | 30
Hematuria 3 | 36
Hereditary elliptocytosis 3 | 22
Hypotrophic malar bone 3 | 129
Intellectual disability 3 | 1,016
Kidney Failure 3 | 111
Lens Opacities 3 | 231
Malar flattening 3 | 129
Muscle hypotonia 3 | 571
Myopia 3 | 176
Nephrotic Syndrome 3 | 78
Posterior polymorphous corneal dystrophy 3 | 19
Progressive disorder 3 | 142
Renal Insufficiency 3 | 90
Renal failure in adulthood 3 | 76
Renal glomerular disease 3 | 12
Severe mental retardation (I.Q. 20-34) 3 | 99
Tapering fingers (finding) 3 | 25
Thick vermilion border 3 | 25
Thickening of glomerular basement membrane 3 | 7
Thin lips 3 | 49
active Crohn's disease 3 | 922
acute quadriplegic myopathy 3 | 1,158
atypical teratoid / rhabdoid tumor 3 | 5,112
cystic fibrosis 3 | 1,696
ductal carcinoma in situ 3 | 1,745
hair abnormalities (non-specific) 3 | 30
intraductal papillary-mucinous neoplasm (IPMN) 3 | 3,291
non-small cell lung cancer 3 | 2,890
pituitary cancer 3 | 1,972
Alport Syndrome, Autosomal Dominant 2 | 2
Alport Syndrome, Autosomal Recessive 2 | 2
Alport syndrome, dominant type 2 | 2
Alport syndrome, recessive type 2 | 2
Astrocytoma, Pilocytic 2 | 3,081
Autosomal recessive predisposition 2 | 1,442
Benign familial hematuria 2 | 2
Congenital Bilateral Cataracts 2 | 50
Congenital cataract 2 | 50
Decreased platelet count 2 | 111
Goodpasture syndrome 2 | 6
Hematuria, Benign Familial 2 | 2
Hereditary nephritis 2 | 2
Keratoconus 2 | 113
Leiomyomatosis 2 | 6
Nephritis, Hereditary 2 | 2
Pick disease 2 | 1,894
Pyloric Stenosis 2 | 47
Schizophrenia 2 | 1,160
Sensorineural Hearing Loss (disorder) 2 | 284
Thrombocytopenia 2 | 197
adrenocortical carcinoma 2 | 1,428
autosomal recessive Alport syndrome 2 | 2
colon cancer 2 | 1,478
diabetes mellitus 2 | 1,728
glioblastoma multiforme 2 | 142
invasive ductal carcinoma 2 | 2,951
lung adenocarcinoma 2 | 2,716
malignant mesothelioma 2 | 3,232
medulloblastoma, large-cell 2 | 6,241
nail-patella syndrome 2 | 16
osteosarcoma 2 | 7,950
posterior fossa group A ependymoma 2 | 468
Bleeding time prolonged 1 | 31
Hypophosphatemia 1 | 40
Increased tendency to bruise 1 | 66

Tissue

Blood and immune system 7 | 16,909
Cardiovascular System 7 | 15,192
Digestive Tract 7 | 17,369
Endocrine System 7 | 18,159
Female tissues 7 | 17,400
Liver and Pancreas 7 | 16,750
Male tissues 7 | 17,142
Nervous System 7 | 16,725
Respiratory system 7 | 16,393
Skin and soft tissues 7 | 17,230
Urinary Tract 6 | 16,678

Target Family

Non-IDG 6 | 12,091
Enzyme 1 | 4,145

UniProt Keyword

Alport syndrome 7 | 7
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 
Potassium voltage-gated channel subfamily E regulatory beta subunit 5 KCNE5 Tbio Non-IDG -0.91945 8.20 84
Long-chain-fatty-acid--CoA ligase 4 ACSL4 Tbio Enzyme -1.88239 83.9 249
Collagen alpha-4(IV) chain COL4A4 Tbio Non-IDG -1.92846 80.8 41
AMME syndrome candidate gene 1 protein AMMECR1 Tbio Non-IDG -0.63077 4.76 84
Collagen alpha-3(IV) chain COL4A3 Tbio Non-IDG -2.32017 204.4 209
Myosin-9 MYH9 Tbio Non-IDG -3.01272 1033.4 349
Collagen alpha-5(IV) chain COL4A5 Tbio Non-IDG -2.44387 275.7 90