Development Level

Tbio 3 | 11,445

IMPC Phenotype

hypoactivity 1 | 132
preweaning lethality, incomple... 1 | 499
small adrenal glands 1 | 16

Disease

Autosomal recessive predisposition 3 | 1,442
Cognitive delay 3 | 608
Dull intelligence 3 | 645
Global developmental delay 3 | 608
Hepatomegaly 3 | 285
Intellectual disability 3 | 1,016
Large vacuolated foam cells ('NP cells') on bone marrow biopsy 3 | 5
Low intelligence 3 | 645
Mental Retardation 3 | 645
Mental and motor retardation 3 | 608
Mental deficiency 3 | 645
Muscle Spasticity 3 | 195
Muscle hypotonia 3 | 571
Neonatal Jaundice 3 | 30
Neurodegenerative disease 3 | 414
Niemann-Pick disease 3 | 14
Poor school performance 3 | 645
Prolonged neonatal jaundice 3 | 17
Sea-Blue Histiocyte Syndrome 3 | 7
Splenomegaly 3 | 190
medulloblastoma, large-cell 3 | 6,241
ovarian cancer 3 | 8,520
Abnormal cholesterol homeostasis 2 | 2
Carcinoma 2 | 11,493
Cataplexy 2 | 11
Cerebellar Ataxia 2 | 304
Deglutition Disorders 2 | 132
Dementia 2 | 175
Down syndrome 2 | 499
Dysarthria 2 | 192
Dystonia 2 | 164
Dystonic disease 2 | 106
Epilepsy 2 | 792
Fetal ascites 2 | 3
Foam cells in visceral organs and CNS 2 | 2
Highly variable clinical phenotype 2 | 150
Highly variable phenotype and severity 2 | 150
Highly variable phenotype, even within families 2 | 150
Loss of speech 2 | 16
Low cholesterol esterification rates 2 | 2
Neurofibrillary degeneration (morphologic abnormality) 2 | 9
Phenotypic variability 2 | 150
Psychotic Disorders 2 | 151
Seizures 2 | 596
Vertical gaze palsy 2 | 3
Vertical supranuclear gaze palsy 2 | 3
glioblastoma 2 | 5,792
lung cancer 2 | 4,740
lung carcinoma 2 | 2,843
Astrocytoma, Pilocytic 1 | 3,081
Ataxia 1 | 15
Atherosclerosis 1 | 291
Athetosis 1 | 16
Brucellosis 1 | 24
Cancer 1 | 2,499
Ceroid lipofuscinosis neuronal 6 1 | 2
Constipation 1 | 181
Decreased tendon reflex 1 | 122
Duchenne muscular dystrophy 1 | 601
Dyschezia 1 | 135
Dyspnea 1 | 76
Ebola hemorrhagic fever 1 | 13
Failure to gain weight 1 | 365
Gangliosidosis 1 | 20
Gastrointestinal Stromal Tumors 1 | 48
Gaucher disease type 1 1 | 180
High density lipoprotein decreased 1 | 10
Hypertriglyceridemia result 1 | 37
Hypoalphalipoproteinemias 1 | 10
Infantile onset 1 | 238
Iron-Refractory Iron Deficiency Anemia 1 | 15
Kidney Diseases 1 | 114
Kidney cancer 1 | 2,613
Liver Cirrhosis 1 | 181
Liver diseases 1 | 87
Lymphadenopathy 1 | 62
Muscle Rigidity 1 | 49
Muscle Weakness 1 | 170
Neoplasm Invasiveness 1 | 161
Neuronal loss 1 | 25
Niemann-Pick disease, type C 1 | 5
Ophthalmoplegia 1 | 106
Osteoporosis 1 | 363
Pediatric failure to thrive 1 | 365
Recurrent respiratory infections 1 | 141
Respiratory Failure 1 | 104
Stereotyped Behavior 1 | 37
Stereotypic Movement Disorder 1 | 42
Vomiting 1 | 116
adrenocortical carcinoma 1 | 1,428
astrocytoma 1 | 1,146
intraductal papillary-mucinous carcinoma (IPMC) 1 | 2,989
intraductal papillary-mucinous neoplasm (IPMN) 1 | 3,291
osteosarcoma 1 | 7,950
pancreatic cancer 1 | 2,398
pancreatic ductal adenocarcinoma liver metastasis 1 | 1,962
pediatric high grade glioma 1 | 1,064
psoriasis 1 | 6,694
subependymal giant cell astrocytoma 1 | 2,287
tuberculosis 1 | 2,010

Tissue

Blood and immune system 3 | 16,909
Cardiovascular System 3 | 15,192
Digestive Tract 3 | 17,369
Endocrine System 3 | 18,159
Female tissues 3 | 17,400
Liver and Pancreas 3 | 16,750
Male tissues 3 | 17,142
Nervous System 3 | 16,725
Respiratory system 3 | 16,393
Skin and soft tissues 3 | 17,230
Urinary Tract 3 | 16,678

Target Family

Non-IDG 2 | 12,091
Enzyme 1 | 4,145

UniProt Keyword

Niemann-Pick disease 3 | 3
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 
Niemann-Pick C1 protein NPC1 Tbio Non-IDG -2.71962 551.3 284
Epididymal secretory protein E1 NPC2 Tbio Non-IDG -2.27168 173.5 172
Sphingomyelin phosphodiesterase SMPD1 Tbio Enzyme -3.02214 1041.9 201