Development Level

Tbio 40 | 11,445
Tchem 21 | 1,598
Tdark 10 | 6,588
Tclin 4 | 613

IMPC Phenotype

preweaning lethality, incomple... 3 | 499
abnormal behavior 1 | 298
abnormal bone structure 1 | 187
abnormal coat appearance 1 | 31
abnormal esophagus morphology 1 | 5
abnormal pancreas morphology 1 | 13
abnormal skin coloration 1 | 25
abnormal thyroid gland morphol... 1 | 3
abnormal trachea morphology 1 | 3
absent adrenal gland 1 | 2
absent lymph nodes 1 | 3
anophthalmia 1 | 33
cataract 1 | 92
decreased blood urea nitrogen ... 1 | 51
decreased bone mineral density 1 | 126
decreased circulating creatini... 1 | 39
decreased circulating glucose ... 1 | 126
decreased total body fat amoun... 1 | 207
embryonic lethality prior to o... 1 | 239
enlarged lymph nodes 1 | 37
enlarged thymus 1 | 5
hypoactivity 1 | 132
increased bone mineral content 1 | 108
increased circulating alkaline... 1 | 122
increased circulating phosphat... 1 | 26
long tibia 1 | 25
male infertility 1 | 123
preweaning lethality, complete... 1 | 979
short tibia 1 | 97
small adrenal glands 1 | 16
small superior vagus ganglion 1 | 74

Disease

Carcinoma 53 | 11,493
ovarian cancer 36 | 8,520
osteosarcoma 26 | 7,950
glioblastoma 25 | 5,792
Autosomal recessive predisposition 23 | 1,442
psoriasis 21 | 6,694
medulloblastoma, large-cell 18 | 6,241
lung cancer 17 | 4,740
malignant mesothelioma 17 | 3,232
atypical teratoid / rhabdoid tumor 16 | 5,112
Hepatomegaly 14 | 285
Kidney cancer 14 | 2,613
intraductal papillary-mucinous neoplasm (IPMN) 14 | 3,291
lung adenocarcinoma 14 | 2,716
Muscle hypotonia 13 | 571
ependymoma 13 | 4,679
tuberculosis 13 | 2,010
Epilepsy 12 | 792
Intellectual disability 12 | 1,016
diabetes mellitus 12 | 1,728
group 3 medulloblastoma 12 | 4,104
Breast cancer 11 | 3,578
Seizures 11 | 596
Splenomegaly 11 | 190
pancreatic ductal adenocarcinoma liver metastasis 11 | 1,962
Cancer 10 | 2,499
Coarse facial features 10 | 108
Congenital deafness 10 | 185
Deafness 10 | 198
Dull intelligence 10 | 645
Hearing Loss, Partial 10 | 185
Low intelligence 10 | 645
Mental Retardation 10 | 645
Mental deficiency 10 | 645
Mucopolysaccharidosis 10 | 26
Poor school performance 10 | 645
Short stature 10 | 531
Thickened facial skin with coarse facial features 10 | 108
hearing impairment 10 | 199
intraductal papillary-mucinous carcinoma (IPMC) 10 | 2,989
lung carcinoma 10 | 2,843
non-small cell lung cancer 10 | 2,890
oligodendroglioma 9 | 2,850
Astrocytoma, Pilocytic 8 | 3,081
Cognitive delay 8 | 608
Gaucher's disease 8 | 26
Global developmental delay 8 | 608
Mental and motor retardation 8 | 608
Multiple myeloma 8 | 1,332
adult high grade glioma 8 | 3,801
intraductal papillary-mucinous adenoma (IPMA) 8 | 2,955
subependymal giant cell astrocytoma 8 | 2,287
Cardiomegaly 7 | 116
Gangliosidosis 7 | 20
Neurodegenerative disease 7 | 414
Recurrent respiratory infections 7 | 141
astrocytoma 7 | 1,146
invasive ductal carcinoma 7 | 2,951
pediatric high grade glioma 7 | 1,064
primitive neuroectodermal tumor 7 | 3,035
ulcerative colitis 7 | 1,819
Corneal Opacity 6 | 53
Diarrhea 6 | 253
Fucosidosis 6 | 10
Glycoproteinosis 6 | 12
Kidney disease 6 | 430
Pfaundler-Hurler Syndrome 6 | 12
alpha-mannosidosis 6 | 8
cystic fibrosis 6 | 1,696
dermatomyositis 6 | 966
esophageal adenocarcinoma 6 | 737
group 4 medulloblastoma 6 | 1,855
juvenile dermatomyositis 6 | 1,187
pancreatic cancer 6 | 2,398
Acquired scoliosis 5 | 281
Cerebral atrophy 5 | 178
Clouding of corneal stroma 5 | 50
Concave bridge of nose 5 | 195
Curvature of spine 5 | 282
Degenerative brain disorder 5 | 100
Depressed nasal bridge 5 | 195
Depressed nasal root/bridge 5 | 195
Duchenne muscular dystrophy 5 | 601
Failure to gain weight 5 | 365
Frontal bossing 5 | 157
Hernia, Inguinal 5 | 89
Hydrocephalus 5 | 152
Hyperreflexia 5 | 209
Macroglossia 5 | 65
Optic Atrophy 5 | 242
Osteoporosis 5 | 363
Pediatric failure to thrive 5 | 365
Pick disease 5 | 1,894
Rheumatoid arthritis 5 | 1,191
Sensorineural Hearing Loss (disorder) 5 | 284
active ulcerative colitis 5 | 764
astrocytic glioma 5 | 2,597
breast carcinoma 5 | 1,638
colon cancer 5 | 1,478
nephrosclerosis 5 | 333

Tissue

Endocrine System 73 | 18,159
Female tissues 71 | 17,400
Digestive Tract 70 | 17,369
Blood and immune system 69 | 16,909
Skin and soft tissues 69 | 17,230
Male tissues 67 | 17,142
Liver and Pancreas 66 | 16,750
Nervous System 66 | 16,725
Respiratory system 64 | 16,393
Urinary Tract 64 | 16,678
Cardiovascular System 61 | 15,192

Target Family

Enzyme 72 | 4,145
Non-IDG 3 | 12,091

UniProt Keyword

Glycosidase 75 | 75
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 
Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase MAN1B1 Tchem Enzyme -1.80418 63.8 91
Galactocerebrosidase GALC Tbio Enzyme -2.56924 363.2 143
Alpha-N-acetylglucosaminidase NAGLU Tbio Enzyme -2.18649 159.9 64
Sperm acrosome-associated protein 5 SPACA5B Tdark Enzyme 0.14 0.79 56
Non-lysosomal glucosylceramidase GBA2 Tchem Enzyme -1.62330 43.1 59
Endonuclease III-like protein 1 NTHL1 Tbio Enzyme -1.85066 66.8 155
Adenine DNA glycosylase MUTYH Tbio Enzyme -2.86910 750.8 255
Hexosaminidase D HEXDC Tbio Enzyme -0.60206 3.83 63
Cell migration-inducing and hyaluronan-binding protein CEMIP Tbio Non-IDG -1.58210 41.5 144
Di-N-acetylchitobiase CTBS Tbio Enzyme -2.28326 196.4 113