Development Level

Tbio 11 | 11,445
Tchem 6 | 1,598
Tclin 5 | 613

Collection

Ion Channel: IDG Consortium (T... 2 | 99

IMPC Phenotype

preweaning lethality, complete... 8 | 979
decreased spleen weight 2 | 10
abnormal behavioral response t... 1 | 66
abnormal hair growth 1 | 10
abnormal joint morphology 1 | 23
brachydactyly 1 | 19
convulsive seizures 1 | 13
decreased circulating alkaline... 1 | 46
decreased fasted circulating g... 1 | 65
decreased red blood cell distr... 1 | 41
decreased threshold for audito... 1 | 26
decreased vertical activity 1 | 208
embryonic lethality prior to o... 1 | 239
embryonic lethality prior to t... 1 | 278
improved glucose tolerance 1 | 79
increased bone mineral density 1 | 72
increased grip strength 1 | 41
syndactyly 1 | 23
thrombocytosis 1 | 27

Disease

Congenital myasthenic syndrome 22 | 25
Carcinoma 16 | 11,493
Myasthenic Syndromes, Congenital 15 | 16
Blepharoptosis 14 | 231
Autosomal recessive predisposition 12 | 1,442
Congenital Myasthenic Syndromes, Postsynaptic 11 | 11
Neuropathy 11 | 261
Easy fatigability 10 | 18
Muscle hypotonia 10 | 571
Tires quickly 10 | 18
psoriasis 10 | 6,694
Feeding difficulties 9 | 127
ovarian cancer 9 | 8,520
Prenatal onset 8 | 139
Respiratory Insufficiency 8 | 132
Respiratory function loss 8 | 121
Bell Palsy 7 | 58
Byzanthine arch palate 7 | 194
Congenital Myasthenic Syndromes, Presynaptic 7 | 8
Deglutition Disorders 7 | 132
Facial Paresis 7 | 59
Facial muscle weakness of muscles innervated by CN VII 7 | 58
Hypoplastic mandible condyle 7 | 275
Infantile onset 7 | 238
Mandibular hypoplasia 7 | 275
Micrognathism 7 | 275
Arthrogryposis 6 | 54
Multiple pterygium syndrome 6 | 18
Myasthenias 6 | 8
Neonatal Hypotonia 6 | 64
Ptosis 6 | 48
group 3 medulloblastoma 6 | 4,104
medulloblastoma, large-cell 6 | 6,241
osteosarcoma 6 | 7,950
Acquired scoliosis 5 | 281
Alzheimer's disease 5 | 658
Curvature of spine 5 | 282
Dysarthria 5 | 192
Gowers sign 5 | 24
Gowers sign present 5 | 24
Highly variable severity 5 | 157
Motor delay 5 | 147
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency 5 | 5
Myopathy 5 | 185
Neck muscle weakness 5 | 17
No development of motor milestones 5 | 147
Ophthalmoparesis 5 | 11
Ophthalmoplegia 5 | 106
Orbital separation excessive 5 | 244
Pena-Shokeir syndrome type I 5 | 12
Polyhydramnios 5 | 108
Reduced fetal movement 5 | 51
Respiratory insufficiency due to muscle weakness 5 | 37
Type 2 fiber atrophy 5 | 8
Variable expressivity 5 | 157
Weak cry 5 | 17
juvenile dermatomyositis 5 | 1,187
lung cancer 5 | 4,740
Abnormality of the immune system 4 | 18
Akinesia 4 | 13
Bulbar palsy 4 | 19
Bulbar weakness 4 | 19
Cleft Palate 4 | 271
Congenital hypoplasia of lung 4 | 48
Cystic lymphangioma 4 | 19
Decreased size of nerve terminals 4 | 4
EMG: decrement at repetitive stimulation 4 | 4
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation 4 | 4
Early severe fetal akinesia sequence 4 | 11
Fetal Growth Retardation 4 | 189
General anesthesia 4 | 53
Infant, Small for Gestational Age 4 | 176
Intrauterine retardation 4 | 176
Long face 4 | 71
Lymphangioma, Cystic 4 | 21
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 4 | 4
Muscle relaxation, function 4 | 8
Myasthenic Syndrome, Congenital, 1A, Slow-Channel 4 | 4
Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency 4 | 4
Myasthenic syndrome, congenital, postsynaptic slow-channel 4 | 4
Parkinson's disease 4 | 392
Skeletal Muscle Relaxation for Endotracheal Intubation 4 | 5
Skeletal Muscle Relaxation for Endotracheal Intubation in C-Section 4 | 5
Thin rib 4 | 21
Uranostaphyloschisis 4 | 167
glioblastoma 4 | 5,792
lung adenocarcinoma 4 | 2,716
lung carcinoma 4 | 2,843
malignant mesothelioma 4 | 3,232
subependymal giant cell astrocytoma 4 | 2,287
Amyotrophic lateral sclerosis 3 | 451
Concave bridge of nose 3 | 195
Congenital Epicanthus 3 | 177
Contracture 3 | 96
Contracture of joint 3 | 93
Depressed nasal bridge 3 | 195
Depressed nasal root/bridge 3 | 195
Epilepsy 3 | 792
Seizures 3 | 596
Strabismus 3 | 270

Tissue

Digestive Tract 22 | 17,369
Skin and soft tissues 22 | 17,230
Endocrine System 21 | 18,159
Female tissues 21 | 17,400
Male tissues 21 | 17,142
Liver and Pancreas 20 | 16,750
Cardiovascular System 19 | 15,192
Urinary Tract 19 | 16,678
Blood and immune system 18 | 16,909
Nervous System 18 | 16,725
Respiratory system 18 | 16,393

Target Family

Enzyme 7 | 4,145
Non-IDG 7 | 12,091
Ion Channel 5 | 344
Transporter 2 | 473
Kinase 1 | 634

UniProt Keyword

Congenital myasthenic syndrome 22 | 22
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 
43 kDa receptor-associated protein of the synapse RAPSN Tbio Non-IDG -2.09902 132.1 134
Synaptotagmin-2 SYT2 Tbio Non-IDG -1.93503 86.7 222
Acetylcholine receptor subunit alpha CHRNA1 Tclin Ion Channel -1.66400 41.7 307
Choline O-acetyltransferase CHAT Tchem Enzyme -3.40175 2597.2 436
Collagen alpha-1(XIII) chain COL13A1 Tbio Non-IDG -1.17587 14.7 63
Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 GFPT1 Tchem Enzyme -2.79406 584.2 135
Sodium channel protein type 4 subunit alpha SCN4A Tclin Ion Channel -2.57811 366.4 57
Prolyl endopeptidase-like PREPL Tchem Enzyme -1.46223 29.9 88
Alpha-1,3/1,6-mannosyltransferase ALG2 ALG2 Tbio Enzyme -1.27016 16.1 151
Protein Dok-7 DOK7 Tbio Non-IDG -1.97574 98.6 244