Development Level

Tbio 20 | 11,445
Tchem 2 | 1,598
Tdark 2 | 6,588

Collection

Kinase: IDG Consortium (Target... 1 | 125

IMPC Phenotype

preweaning lethality, complete... 2 | 979
abnormal behavior 1 | 298
abnormal embryo size 1 | 220
abnormal placenta size 1 | 20
decreased circulating alanine ... 1 | 47
decreased vertical activity 1 | 208
embryonic lethality prior to o... 1 | 239
embryonic lethality prior to t... 1 | 278
prenatal lethality 1 | 28
prenatal lethality prior to he... 1 | 87
preweaning lethality, incomple... 1 | 499

Disease

Lissencephaly 24 | 69
Carcinoma 16 | 11,493
ovarian cancer 15 | 8,520
Epilepsy 14 | 792
Intellectual disability 14 | 1,016
Walker-Warburg syndrome 14 | 20
Autosomal recessive predisposition 13 | 1,442
Muscular dystrophy 13 | 75
Walker-Warburg congenital muscular dystrophy 13 | 14
Congenital muscular dystrophy 12 | 29
Seizures 12 | 596
atypical teratoid / rhabdoid tumor 12 | 5,112
glioblastoma 12 | 5,792
osteosarcoma 11 | 7,950
Cerebellar Hypoplasia 10 | 61
Cognitive delay 10 | 608
Global developmental delay 10 | 608
Hydrocephalus 10 | 152
Hypoplasia of the brainstem 10 | 22
Mental and motor retardation 10 | 608
Muscle hypotonia 10 | 571
Pachygyria 10 | 41
Small head 10 | 374
Agenesis of corpus callosum 9 | 83
medulloblastoma, large-cell 9 | 6,241
Cobblestone Lissencephaly 8 | 8
Dilated ventricles (finding) 8 | 121
Dull intelligence 8 | 645
Low intelligence 8 | 645
MUSCULAR DYSTROPHY, CONGENITAL, 1C 8 | 9
Mental Retardation 8 | 645
Mental deficiency 8 | 645
Muscle biopsy shows dystrophic changes 8 | 39
Polymicrogyria 8 | 48
Poor school performance 8 | 645
Severe mental retardation (I.Q. 20-34) 8 | 99
limb-girdle muscular dystrophy 8 | 37
psoriasis 8 | 6,694
Creatine phosphokinase serum increased 7 | 110
Elevated creatine kinase 7 | 110
Hypoplasia of corpus callosum 7 | 90
Infantile onset 7 | 238
Motor delay 7 | 147
Muscle eye brain disease 7 | 8
Muscle-eye-brain disease 7 | 8
Myopathy 7 | 185
No development of motor milestones 7 | 147
Retinal Dysplasia 7 | 11
adult high grade glioma 7 | 3,801
malignant mesothelioma 7 | 3,232
oligodendroglioma 7 | 2,850
pituitary cancer 7 | 1,972
Abnormally small eyeball 6 | 97
Agyria 6 | 15
Breast cancer 6 | 3,578
Cataract 6 | 297
Cerebellar dysplasia 6 | 8
Congenital ocular coloboma (disorder) 6 | 40
Decreased size of eyeball 6 | 97
Electroencephalogram abnormal 6 | 101
Globe of eye large 6 | 20
Hydrophthalmos 6 | 19
Hypotonia, severe 6 | 33
Impaired cognition 6 | 96
Kidney cancer 6 | 2,613
Lens Opacities 6 | 231
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 6 | 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 6 | 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 6 | 7
Mental impairment 6 | 95
Microphthalmos 6 | 100
Muscle Hypertonia 6 | 88
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain and Eye Anomalies), Type A, 1 6 | 6
Myopia 6 | 176
Periventricular nodular heterotopia 6 | 30
Profound Mental Retardation 6 | 31
Profound intellectual disabilities 6 | 31
colon cancer 6 | 1,478
lung cancer 6 | 4,740
Abnormality of the voice 5 | 46
Atrophic retina 5 | 7
Blind Vision 5 | 111
Blindness, Legal 5 | 110
Congenital keratoglobus 5 | 14
Congenital muscular dystrophy (disorder) 5 | 14
Electromyogram abnormal 5 | 49
Gait abnormality 5 | 135
Glaucoma 5 | 239
Highly variable clinical phenotype 5 | 150
Highly variable phenotype and severity 5 | 150
Highly variable phenotype, even within families 5 | 150
Low Vision 5 | 174
Optic Atrophy 5 | 242
Phenotypic variability 5 | 150
Pick disease 5 | 1,894
Retinal Degeneration 5 | 106
Speech Disorders 5 | 58
Strabismus 5 | 270
intraductal papillary-mucinous neoplasm (IPMN) 5 | 3,291
lung carcinoma 5 | 2,843

Tissue

Blood and immune system 24 | 16,909
Digestive Tract 24 | 17,369
Endocrine System 24 | 18,159
Female tissues 24 | 17,400
Liver and Pancreas 24 | 16,750
Male tissues 24 | 17,142
Nervous System 24 | 16,725
Skin and soft tissues 24 | 17,230
Respiratory system 23 | 16,393
Urinary Tract 23 | 16,678
Cardiovascular System 22 | 15,192

Target Family

Non-IDG 11 | 12,091
Enzyme 10 | 4,145
Kinase 2 | 634
Transcription Factor 1 | 1,400

UniProt Keyword

Lissencephaly 24 | 24
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 
Protein O-mannosyl-transferase 1 POMT1 Tbio Enzyme -1.57372 38.3 123
Homeobox protein ARX ARX Tbio Transcription Factor -2.21255 163.7 328
Nuclear distribution protein nudE homolog 1 NDE1 Tbio Non-IDG -2.01711 96.0 192
Reelin RELN Tbio Non-IDG -2.78255 645.2 121
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 B3GALNT2 Tbio Enzyme -1.06354 9.47 78
D-ribitol-5-phosphate cytidylyltransferase ISPD Tbio Enzyme -2.15479 145.9 72
Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 POMGNT1 Tbio Enzyme -2.17085 153.6 69
Fukutin FKTN Tbio Non-IDG -2.34994 236.9 131
Transmembrane and TPR repeat-containing protein 3 TMTC3 Tdark Non-IDG -0.14819 2.07 14
Dystroglycan DAG1 Tbio Enzyme -2.77503 560.0 254