Development Level

Tbio 77 | 11,445
Tchem 17 | 1,598
Tclin 4 | 613
Tdark 2 | 6,588

IMPC Phenotype

preweaning lethality, complete... 14 | 979
abnormal embryo size 5 | 220
hypoactivity 4 | 132
abnormal behavior 3 | 298
abnormal gait 3 | 69
decreased fasted circulating g... 3 | 65
decreased grip strength 3 | 116
embryonic lethality prior to o... 3 | 239
embryonic lethality prior to t... 3 | 278
increased lean body mass 3 | 172
abnormal craniofacial morpholo... 2 | 33
abnormal skin morphology 2 | 50
decreased bone mineral density 2 | 126
decreased circulating glucose ... 2 | 126
decreased mean corpuscular vol... 2 | 79
decreased total body fat amoun... 2 | 207
enlarged heart 2 | 210
increased heart rate 2 | 23
increased mean corpuscular hem... 2 | 36
increased or absent threshold ... 2 | 101
tremors 2 | 39
abnormal adrenal gland morphol... 1 | 1
abnormal behavioral response t... 1 | 66
abnormal bone structure 1 | 187
abnormal cranium morphology 1 | 36
abnormal embryo turning 1 | 31
abnormal epididymis morphology 1 | 42
abnormal facial morphology 1 | 17
abnormal hair growth 1 | 10
abnormal head shape 1 | 10
abnormal limb morphology 1 | 13
abnormal lung morphology 1 | 26
abnormal motor capabilities-co... 1 | 5
abnormal outer ear morphology 1 | 3
abnormal pericardium morpholog... 1 | 26
abnormal retina morphology 1 | 71
abnormal seminal vesicle morph... 1 | 114
abnormal thymus morphology 1 | 7
absent pinna reflex 1 | 23
aorta dilation 1 | 3
cyanosis 1 | 7
decreased blood urea nitrogen ... 1 | 51
decreased body length 1 | 101
decreased bone mineral content 1 | 151
decreased caudal vertebrae num... 1 | 53
decreased circulating choleste... 1 | 93
decreased circulating free fat... 1 | 31
decreased circulating sodium l... 1 | 22
decreased circulating triglyce... 1 | 79
decreased erythrocyte cell num... 1 | 62
decreased lymphocyte cell numb... 1 | 83
decreased mean corpuscular hem... 1 | 50
decreased respiratory quotient 1 | 16
decreased vertical activity 1 | 208
edema 1 | 59
embryonic growth retardation 1 | 106
enlarged epididymis 1 | 31
enlarged spleen 1 | 41
female infertility 1 | 60
hemorrhage 1 | 23
hyperactivity 1 | 148
impaired glucose tolerance 1 | 75
improved glucose tolerance 1 | 79
increased body length 1 | 32
increased bone mineral content 1 | 108
increased bone mineral density 1 | 72
increased circulating chloride... 1 | 41
increased circulating choleste... 1 | 66
increased circulating creatini... 1 | 38
increased circulating glucose ... 1 | 24
increased circulating sodium l... 1 | 71
increased fasted circulating g... 1 | 76
increased grip strength 1 | 41
increased lymphocyte cell numb... 1 | 32
increased mean platelet volume 1 | 45
increased monocyte cell number 1 | 63
increased neutrophil cell numb... 1 | 46
increased red blood cell distr... 1 | 34
increased startle reflex 1 | 112
increased total body fat amoun... 1 | 134
male infertility 1 | 123
pallor 1 | 34
preweaning lethality, incomple... 1 | 499
prolonged QT interval 1 | 38
short tibia 1 | 97
shortened QT interval 1 | 4
shortened RR interval 1 | 17
small adrenal glands 1 | 16
small liver 1 | 8
small superior vagus ganglion 1 | 74
small thymus 1 | 16
thrombocytosis 1 | 27

Disease

Neuropathy 99 | 261
Neurodegenerative disease 75 | 414
Carcinoma 74 | 11,493
ovarian cancer 64 | 8,520
Charcot-Marie-Tooth disease 52 | 62
Autosomal recessive predisposition 48 | 1,442
osteosarcoma 48 | 7,950
Distal sensory impairment 42 | 52
psoriasis 40 | 6,694
lung cancer 37 | 4,740
medulloblastoma, large-cell 36 | 6,241
Absent reflex 35 | 92
Absent tendon reflex 35 | 92
Distal limb muscle weakness due to peripheral neuropathy 35 | 62
Distal muscle weakness 35 | 62
Reflex, Deep Tendon, Absent 35 | 92
Decreased tendon reflex 34 | 122
glioblastoma 34 | 5,792
Congenital pes cavus 32 | 88
atypical teratoid / rhabdoid tumor 31 | 5,112
malignant mesothelioma 31 | 3,232
Distal amyotrophy 29 | 51
ependymoma 25 | 4,679
Kidney cancer 24 | 2,613
Peripheral Neuropathy 24 | 134
Slow progression 23 | 89
Muscle hypotonia 22 | 571
group 3 medulloblastoma 22 | 4,104
adult high grade glioma 21 | 3,801
intraductal papillary-mucinous adenoma (IPMA) 21 | 2,955
intraductal papillary-mucinous carcinoma (IPMC) 21 | 2,989
Astrocytoma, Pilocytic 20 | 3,081
Breast cancer 20 | 3,578
intraductal papillary-mucinous neoplasm (IPMN) 20 | 3,291
lung adenocarcinoma 20 | 2,716
non-small cell lung cancer 20 | 2,890
Decreased motor NCV 19 | 22
Gait, Drop Foot 19 | 24
Progressive disorder 19 | 142
Decreased number of large and small myelinated fibers 18 | 20
Neurogenic Muscular Atrophy 18 | 139
Neurogenic muscle atrophy, especially in the lower limbs 18 | 139
Onion bulb formation 18 | 19
Skeletal muscle atrophy 18 | 139
invasive ductal carcinoma 18 | 2,951
lung carcinoma 18 | 2,843
muscle degeneration 18 | 139
Intellectual disability 17 | 1,016
diabetes mellitus 17 | 1,728
Foot dorsiflexor weakness 16 | 27
Foot-drop 16 | 27
Motor delay 16 | 147
No development of motor milestones 16 | 147
Pick disease 16 | 1,894
Polyneuropathy 16 | 64
colon cancer 16 | 1,478
Acquired scoliosis 15 | 281
Cancer 15 | 2,499
Cerebellar Ataxia 15 | 304
Curvature of spine 15 | 282
Epilepsy 15 | 792
Multiple myeloma 15 | 1,332
astrocytoma 15 | 1,146
pancreatic ductal adenocarcinoma liver metastasis 15 | 1,962
subependymal giant cell astrocytoma 15 | 2,287
Sensorineural Hearing Loss (disorder) 14 | 284
Cognitive delay 13 | 608
Dull intelligence 13 | 645
Gait abnormality 13 | 135
Global developmental delay 13 | 608
Hammer Toe 13 | 23
Infantile onset 13 | 238
Low intelligence 13 | 645
Mental Retardation 13 | 645
Mental and motor retardation 13 | 608
Mental deficiency 13 | 645
Muscle Spasticity 13 | 195
Poor school performance 13 | 645
Seizures 13 | 596
breast carcinoma 13 | 1,638
Alzheimer's disease 12 | 658
Axonal neuropathy 12 | 27
Deafness 12 | 198
Highly variable severity 12 | 157
Variable expressivity 12 | 157
astrocytic glioma 12 | 2,597
group 4 medulloblastoma 12 | 1,855
hearing impairment 12 | 199
Failure to gain weight 11 | 365
Hearing Loss, Partial 11 | 185
Nystagmus 11 | 317
Pediatric failure to thrive 11 | 365
Small head 11 | 374
adrenocortical carcinoma 11 | 1,428
cystic fibrosis 11 | 1,696
dermatomyositis 11 | 966
oligodendroglioma 11 | 2,850
pancreatic cancer 11 | 2,398
primary pancreatic ductal adenocarcinoma 11 | 1,109
tuberculosis 11 | 2,010

Tissue

Endocrine System 100 | 18,159
Male tissues 100 | 17,142
Digestive Tract 99 | 17,369
Female tissues 99 | 17,400
Liver and Pancreas 99 | 16,750
Nervous System 99 | 16,725
Respiratory system 99 | 16,393
Skin and soft tissues 99 | 17,230
Urinary Tract 98 | 16,678
Blood and immune system 97 | 16,909
Cardiovascular System 96 | 15,192

Target Family

Non-IDG 61 | 12,091
Enzyme 25 | 4,145
Kinase 5 | 634
Transporter 4 | 473
Ion Channel 2 | 344
Transcription Factor 2 | 1,400
TF/Epigenetic 1 | 38

UniProt Keyword

Neuropathy 100 | 100
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 
Atlastin-1 ATL1 Tbio Non-IDG -2.07795 119.7 164
Alpha-N-acetylglucosaminidase NAGLU Tbio Enzyme -2.18649 159.9 64
Feline leukemia virus subgroup C receptor-related protein 1 FLVCR1 Tbio Non-IDG -1.54460 33.8 139
Tyrosine--tRNA ligase, cytoplasmic YARS Tchem Enzyme -2.45633 272.6 180
Glycine--tRNA ligase GARS Tbio Enzyme -2.62899 412.8 178
Solute carrier family 12 member 6 SLC12A6 Tbio Transporter -1.73943 58.4 161
Otoferlin OTOF Tbio Non-IDG -2.05743 118.7 45
Peripheral myelin protein 22 PMP22 Tbio Non-IDG -2.50612 344.4 262
Transient receptor potential cation channel subfamily V member 4 TRPV4 Tchem Ion Channel -2.86016 747.3 258
Sodium channel protein type 11 subunit alpha SCN11A Tclin Ion Channel -2.46568 276.3 60