Development Level

Tbio 27 | 11,445
Tchem 1 | 1,598
Tclin 1 | 613

IMPC Phenotype

preweaning lethality, complete... 6 | 979
embryonic lethality prior to o... 4 | 239
embryonic lethality prior to t... 4 | 278
abnormal embryo size 2 | 220
enlarged heart 2 | 210
increased mean corpuscular hem... 2 | 96
abnormal behavior 1 | 298
abnormal cornea morphology 1 | 31
abnormal eye morphology 1 | 68
abnormal gait 1 | 69
abnormal heart morphology 1 | 162
abnormal seminal vesicle morph... 1 | 114
corneal opacity 1 | 32
decreased body weight 1 | 161
decreased bone mineral content 1 | 151
decreased circulating HDL chol... 1 | 68
decreased circulating alkaline... 1 | 46
decreased circulating aspartat... 1 | 34
decreased circulating calcium ... 1 | 36
decreased circulating choleste... 1 | 93
decreased circulating glucose ... 1 | 126
decreased circulating lactate ... 1 | 3
decreased granulocyte number 1 | 6
decreased grip strength 1 | 116
decreased mean corpuscular hem... 1 | 31
decreased mean corpuscular vol... 1 | 79
decreased prepulse inhibition 1 | 82
decreased startle reflex 1 | 75
decreased vertical activity 1 | 208
embryonic growth retardation 1 | 106
enlarged lymph nodes 1 | 37
enlarged urinary bladder 1 | 8
hyperactivity 1 | 148
hypoactivity 1 | 132
increased bone mineral content 1 | 108
increased circulating phosphat... 1 | 26
increased fasted circulating g... 1 | 76
increased mean corpuscular vol... 1 | 92
increased thermal nociceptive ... 1 | 9
limb grasping 1 | 41
preweaning lethality, incomple... 1 | 499
short tibia 1 | 97

Disease

Leukodystrophy 28 | 55
Autosomal recessive predisposition 17 | 1,442
Carcinoma 17 | 11,493
ovarian cancer 16 | 8,520
Epilepsy 12 | 792
Seizures 12 | 596
Dysarthria 11 | 192
Muscle hypotonia 11 | 571
glioblastoma 11 | 5,792
Cognitive delay 10 | 608
Global developmental delay 10 | 608
Mental and motor retardation 10 | 608
Muscle Spasticity 10 | 195
Optic Atrophy 10 | 242
medulloblastoma, large-cell 10 | 6,241
Cerebellar Ataxia 9 | 304
Developmental regression 9 | 95
Hyperreflexia 9 | 209
Loss of developmental milestones 9 | 95
Mental deterioration in childhood 9 | 95
Neurodevelopmental regression 9 | 95
Psychomotor regression 9 | 95
Psychomotor regression beginning in infancy 9 | 95
Psychomotor regression in infants 9 | 95
Psychomotor regression, progressive 9 | 95
atypical teratoid / rhabdoid tumor 9 | 5,112
ependymoma 9 | 4,679
osteosarcoma 9 | 7,950
Babinski Reflex 8 | 100
Central nervous system demyelination 8 | 28
group 3 medulloblastoma 8 | 4,104
psoriasis 8 | 6,694
Big calvaria 7 | 147
Dystonia 7 | 164
Increased head circumference 7 | 147
Increased size of cranium 7 | 147
Increased size of skull 7 | 147
Intellectual disability 7 | 1,016
adult high grade glioma 7 | 3,801
lung cancer 7 | 4,740
oligodendroglioma 7 | 2,850
Brain hypomyelination 6 | 11
Cancer 6 | 2,499
Delusions 6 | 11
Hypomyelinating leukoencephalopathy 6 | 7
Hypoplasia of corpus callosum 6 | 90
Lethargy 6 | 77
Mood swings 6 | 77
Nystagmus 6 | 317
Personality change 6 | 23
hereditary spastic paraplegia 6 | 318
intraductal papillary-mucinous neoplasm (IPMN) 6 | 3,291
subependymal giant cell astrocytoma 6 | 2,287
Astrocytoma, Pilocytic 5 | 3,081
Breast cancer 5 | 3,578
Cessation of head growth 5 | 5
Childhood Ataxia with Central Nervous System Hypomyelinization 5 | 6
Decreased serum progesterone 5 | 5
Deglutition Disorders 5 | 132
Dystonic disease 5 | 106
Forgetful 5 | 40
Gait, Unsteady 5 | 29
Leukoencephalopathies 5 | 29
Leukoencephalopathy with vanishing white matter 5 | 20
Memory Loss 5 | 40
Memory impairment 5 | 40
Metachromatic leukodystrophy 5 | 14
Neurodegenerative disease 5 | 414
OVARIOLEUKODYSTROPHY 5 | 6
Premature Menopause 5 | 31
Primary gonadal insufficiency 5 | 9
Progressive disorder 5 | 142
Secondary physiologic amenorrhea 5 | 32
Vanishing White Matter Leukodystrophy with Ovarian Failure 5 | 5
breast carcinoma 5 | 1,638
ductal carcinoma in situ 5 | 1,745
intraductal papillary-mucinous adenoma (IPMA) 5 | 2,955
intraductal papillary-mucinous carcinoma (IPMC) 5 | 2,989
invasive ductal carcinoma 5 | 2,951
lung adenocarcinoma 5 | 2,716
malignant mesothelioma 5 | 3,232
primitive neuroectodermal tumor 5 | 3,035
Adenocarcinoma of lung 4 | 142
Brain disease 4 | 96
CNS hypomyelination 4 | 17
Cerebellar Dysmetria 4 | 56
Cerebrospinal fluid protein increased above normal 4 | 14
Dull intelligence 4 | 645
Hypomyelination 4 | 17
Krabbe disease 4 | 12
Low intelligence 4 | 645
Mental Retardation 4 | 645
Mental deficiency 4 | 645
Multiple Sclerosis 4 | 540
Pick disease 4 | 1,894
Poor school performance 4 | 645
Small head 4 | 374
astrocytoma 4 | 1,146
colon cancer 4 | 1,478
progressive supranuclear palsy 4 | 676

Tissue

Digestive Tract 29 | 17,369
Endocrine System 29 | 18,159
Nervous System 29 | 16,725
Blood and immune system 28 | 16,909
Cardiovascular System 28 | 15,192
Female tissues 28 | 17,400
Liver and Pancreas 28 | 16,750
Male tissues 28 | 17,142
Respiratory system 28 | 16,393
Skin and soft tissues 28 | 17,230
Urinary Tract 28 | 16,678

Target Family

Non-IDG 16 | 12,091
Enzyme 12 | 4,145
Transcription Factor 1 | 1,400

UniProt Keyword

Leukodystrophy 29 | 29
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 
Galactocerebrosidase GALC Tbio Enzyme -2.56924 363.2 143
DNA-directed RNA polymerase III subunit RPC2 POLR3B Tbio Enzyme -1.25377 19.0 105
Tubulin beta-4A chain TUBB4A Tclin Non-IDG -2.98371 896.1 90
Translation initiation factor eIF-2B subunit delta EIF2B4 Tbio Non-IDG -1.06082 11.3 145
Sulfatase-modifying factor 1 SUMF1 Tbio Enzyme -2.21118 157.7 145
Arylsulfatase B ARSB Tbio Enzyme -2.51626 314.5 216
DNA-directed RNA polymerase III subunit RPC1 POLR3A Tbio Enzyme -2.25632 178.2 99
Lamin-B1 LMNB1 Tbio Non-IDG -2.58749 373.5 496
Pleckstrin homology domain-containing family G member 2 PLEKHG2 Tbio Non-IDG -0.50278 6.97 36
Translation initiation factor eIF-2B subunit gamma EIF2B3 Tbio Non-IDG -1.21999 16.3 170