Development Level

Tbio 11 | 11,445
Tchem 2 | 1,598

IMPC Phenotype

abnormal bone structure 2 | 187
decreased circulating serum al... 2 | 82
decreased total body fat amoun... 2 | 207
hypoactivity 2 | 132
increased bone mineral content 2 | 108
increased circulating alkaline... 2 | 122
increased circulating potassiu... 2 | 29
short tibia 2 | 97
abnormal heart morphology 1 | 162
abnormal lung morphology 1 | 26
abnormal seminal vesicle morph... 1 | 114
enlarged heart 1 | 210
enlarged lymph nodes 1 | 37
enlarged urinary bladder 1 | 8
increased blood urea nitrogen ... 1 | 48
increased bone mineral density 1 | 72
increased circulating phosphat... 1 | 26
increased lean body mass 1 | 172
thrombocytosis 1 | 27

Disease

Carcinoma 13 | 11,493
Mucopolysaccharidosis 13 | 26
Autosomal recessive predisposition 9 | 1,442
Coarse facial features 9 | 108
Congenital deafness 9 | 185
Deafness 9 | 198
Hearing Loss, Partial 9 | 185
Hepatomegaly 9 | 285
Thickened facial skin with coarse facial features 9 | 108
hearing impairment 9 | 199
Splenomegaly 8 | 190
ovarian cancer 8 | 8,520
Joint stiffness 7 | 84
Pfaundler-Hurler Syndrome 7 | 12
Dull intelligence 6 | 645
Heart valve disease 6 | 39
Hernia, Inguinal 6 | 89
Hirsutism 6 | 47
Intellectual disability 6 | 1,016
Low intelligence 6 | 645
Mental Retardation 6 | 645
Mental deficiency 6 | 645
Poor school performance 6 | 645
Recurrent upper respiratory tract infection 6 | 21
VALVULAR ABNORMALITY 6 | 12
osteosarcoma 6 | 7,950
subependymal giant cell astrocytoma 6 | 2,287
Heparan sulfate excretion in urine 5 | 5
ODONTOID HYPOPLASIA 5 | 16
Short neck 5 | 140
Short stature 5 | 531
tuberculosis 5 | 2,010
Acquired scoliosis 4 | 281
Astrocytoma, Pilocytic 4 | 3,081
Big calvaria 4 | 147
Cloudy cornea 4 | 33
Concave bridge of nose 4 | 195
Contracture 4 | 96
Contracture of joint 4 | 93
Corneal stromal opacities 4 | 33
Curvature of spine 4 | 282
Depressed nasal bridge 4 | 195
Depressed nasal root/bridge 4 | 195
Diarrhea 4 | 253
Epilepsy 4 | 792
Flexion contracture 4 | 93
Flexion contractures of joints 4 | 93
Hydrocephalus 4 | 152
Hyperkyphosis 4 | 111
Increased head circumference 4 | 147
Increased size of cranium 4 | 147
Increased size of skull 4 | 147
Knee joint valgus deformity 4 | 56
Kyphosis deformity of spine 4 | 114
Metachromatic leukodystrophy 4 | 14
Mucopolysaccharidosis III 4 | 7
Multiple myeloma 4 | 1,332
Seizures 4 | 596
Sleep disturbances 4 | 37
Thick rib 4 | 5
Umbilical hernia 4 | 93
astrocytoma 4 | 1,146
atypical teratoid / rhabdoid tumor 4 | 5,112
ependymoma 4 | 4,679
glioblastoma 4 | 5,792
group 4 medulloblastoma 4 | 1,855
psoriasis 4 | 6,694
Asymmetric Septal Hypertrophy 3 | 7
Cancer 3 | 2,499
Class III malocclusion 3 | 78
Coarse hair 3 | 31
Corneal Opacity 3 | 53
Coxa valga 3 | 22
Coxa valga deformity 3 | 22
Flared iliac wings 3 | 13
Frontal bossing 3 | 157
Gangliosidosis 3 | 20
Hyperactive behavior 3 | 91
Hypertrophy of lower jaw 3 | 78
Increased size of mandible 3 | 78
Kluver-Bucy syndrome 3 | 6
Long narrow head 3 | 75
Macroglossia 3 | 65
Mandibular hyperplasia 3 | 78
Mucosulfatidosis 3 | 5
Narrow cranium shape 3 | 75
Narrow head shape 3 | 75
Narrow skull shape 3 | 75
Nerve Degeneration 3 | 121
Neuro-degenerative disease 3 | 43
Neurodegenerative Disorders 3 | 79
Osteoporosis 3 | 363
Ovoid thoracolumbar vertebrae 3 | 3
Platyspondyly 3 | 56
Rough hair texture 3 | 31
Short-trunked dwarfism 3 | 13
Synophrys 3 | 40
Turridolichocephaly 3 | 75
lung cancer 3 | 4,740
mandibular excess (physical finding) 3 | 78

Tissue

Blood and immune system 13 | 16,909
Cardiovascular System 13 | 15,192
Digestive Tract 13 | 17,369
Endocrine System 13 | 18,159
Female tissues 13 | 17,400
Liver and Pancreas 13 | 16,750
Male tissues 13 | 17,142
Nervous System 13 | 16,725
Respiratory system 13 | 16,393
Skin and soft tissues 13 | 17,230
Urinary Tract 13 | 16,678

Target Family

Enzyme 12 | 4,145
Non-IDG 1 | 12,091

UniProt Keyword

Mucopolysaccharidosis 13 | 13
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 
Alpha-N-acetylglucosaminidase NAGLU Tbio Enzyme -2.18649 159.9 64
Sulfatase-modifying factor 1 SUMF1 Tbio Enzyme -2.21118 157.7 145
Arylsulfatase B ARSB Tbio Enzyme -2.51626 314.5 216
Vacuolar protein sorting-associated protein 33A VPS33A Tbio Non-IDG -0.94266 9.42 45
Alpha-L-iduronidase IDUA Tbio Enzyme -2.45679 291.5 129
Heparan-alpha-glucosaminide N-acetyltransferase HGSNAT Tbio Enzyme -1.43006 29.3 31
Hyaluronidase-1 HYAL1 Tbio Enzyme -1.88328 77.3 220
N-acetylglucosamine-6-sulfatase GNS Tbio Enzyme -2.69362 478.4 159
N-acetylgalactosamine-6-sulfatase GALNS Tbio Enzyme -2.43232 272.7 229
N-sulphoglucosamine sulphohydrolase SGSH Tbio Enzyme -2.17271 151.8 156