Development Level

Tbio 1 | 11,651
Tchem 1 | 1,388

Disease

Anemia 2 | 365
Autosomal recessive predisposition 2 | 1,442
Carcinoma 2 | 11,493
Cognitive delay 2 | 608
Death in early childhood 2 | 82
Death in infancy 2 | 82
Decreased platelet count 2 | 111
Deglutition Disorders 2 | 132
Dystonia 2 | 164
Dystonic disease 2 | 106
Epilepsy 2 | 792
Erlenmeyer flask femora 2 | 4
Feeding difficulties 2 | 127
Gaucher's disease 2 | 26
Generalized osteopenia 2 | 99
Global developmental delay 2 | 608
Hemoglobin low 2 | 124
Hepatomegaly 2 | 285
Hyperreflexia 2 | 209
Mental and motor retardation 2 | 608
Multiple myeloma 2 | 1,332
Muscle Hypertonia 2 | 88
Muscle hypotonia 2 | 571
Myoclonus 2 | 74
Osteopenia 2 | 99
Recurrent respiratory infections 2 | 141
Seizures 2 | 596
Splenomegaly 2 | 190
Thrombocytopenia 2 | 197
psoriasis 2 | 6,694
Abnormal respiratory patterns 1 | 20
Abnormality of aortic arch 1 | 9
Aortic calcification 1 | 2
Apathy 1 | 16
Aseptic Necrosis of Bone 1 | 8
Aseptic necrosis 1 | 8
Atrophoderma maculatum 1 | 4
Autosomal dominant late onset Parkinson disease 1 | 7
Bone disease 1 | 10
Bone infarction 1 | 8
Bone necrosis 1 | 9
Bulbar signs 1 | 4
Collapse of vertebra 1 | 14
Compression fracture of vertebral column 1 | 14
Congenital Nonbullous Ichthyosiform Erythroderma 1 | 16
Coughing 1 | 25
Death in childhood 1 | 14
Decrease in jaw opening 1 | 5
Delayed Puberty 1 | 97
Desquamation of skin soon after birth 1 | 10
Drooping upper lip 1 | 4
Ectropion 1 | 38
Everted lower lip vermilion 1 | 54
Everted upper lip vermilion 1 | 4
Farber lipogranulomatosis 1 | 9
Gaucher Disease 1 | 4
Global brain atrophy 1 | 7
Globulin gamma serum plasma increased result 1 | 9
Glycoproteinosis 1 | 12
Hepatosplenomegaly 1 | 22
Horizontal Nystagmus 1 | 10
Hydrops Fetalis 1 | 21
Hydrops Fetalis, Non-Immune 1 | 8
Hypergammaglobulinemia 1 | 10
Hyperglobulinemia 1 | 9
Hyperkyphosis 1 | 111
Hypertension, Pulmonary 1 | 37
Idiopathic pulmonary arterial hypertension 1 | 40
Kyphosis deformity of spine 1 | 114
Lewy Body Disease 1 | 21
Lewy body dementia 1 | 4
Limited jaw mobility 1 | 5
Limited jaw opening 1 | 5
Lung Diseases, Interstitial 1 | 5
Movement disease 1 | 11
Muscle Rigidity 1 | 49
Neonatal Death 1 | 14
Open mouth 1 | 45
Opisthotonus 1 | 14
Osteosclerosis 1 | 31
PARKINSON DISEASE, LATE-ONSET 1 | 20
Paraparesis, Spastic 1 | 16
Petechiae 1 | 13
Plasmacytoma 1 | 7
Polyneuropathy 1 | 64
Protruding lower lip 1 | 54
Protruding upper lip 1 | 4
Protuberant abdomen 1 | 16
Raised level of immunoglobulins NOS 1 | 9
Recurrent aspiration pneumonia 1 | 4
Reticulate hyperpigmentation 1 | 5
Sleep Apnea, Central 1 | 8
Spasm 1 | 6
Spastic tetraparesis 1 | 12
Stillbirth 1 | 17
Tonic - clonic seizures 1 | 44
Trismus 1 | 6
Vascular Calcification 1 | 3
Weight less than 3rd percentile 1 | 17
gamma globulins increased 1 | 9

Tissue

Blood and immune system 2 | 16,909
Cardiovascular System 2 | 15,192
Digestive Tract 2 | 17,369
Endocrine System 2 | 18,159
Female tissues 2 | 17,400
Liver and Pancreas 2 | 16,750
Male tissues 2 | 17,142
Nervous System 2 | 16,725
Respiratory system 2 | 16,393
Skin and soft tissues 2 | 17,230
Urinary Tract 2 | 16,678

Target Family

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

UniProt Keyword

Gaucher disease 2 | 2
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 
Prosaposin PSAP Tbio Non-IDG -2.32369 225.3 313
Glucosylceramidase GBA Tchem Enzyme -3.22080 1617.1 299