Development Level

Tbio 10 | 11,445

IMPC Phenotype

abnormal coat-hair pigmentatio... 1 | 64
abnormal iris pigmentation 1 | 4
abnormal retina morphology 1 | 71
increased or absent threshold ... 1 | 101
small superior vagus ganglion 1 | 74

Disease

Hermansky-Pudlak syndrome 10 | 42
Hermanski-Pudlak Syndrome 8 | 8
Platelet storage pool deficiency 8 | 21
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 7 | 7
Carcinoma 7 | 11,493
Oculocutaneous albinism 7 | 29
Hermansky-Pudlak Syndrome 1 6 | 6
Pulmonary Fibrosis 6 | 106
osteosarcoma 6 | 7,950
ovarian cancer 5 | 8,520
Autosomal recessive predisposition 4 | 1,442
atypical teratoid / rhabdoid tumor 4 | 5,112
psoriasis 4 | 6,694
Achromasia 3 | 11
Albinism 3 | 11
Albinism, Ocular 3 | 8
Congenital nystagmus 3 | 26
Crohn's disease 3 | 321
Nystagmus 3 | 317
Schizophrenia 3 | 1,160
intraductal papillary-mucinous neoplasm (IPMN) 3 | 3,291
medulloblastoma, large-cell 3 | 6,241
subependymal giant cell astrocytoma 3 | 2,287
Decreased platelet count 2 | 111
Ecchymosis 2 | 66
Increased tendency to bruise 2 | 66
Pick disease 2 | 1,894
Rheumatoid arthritis 2 | 1,191
Thrombocytopenia 2 | 197
adult high grade glioma 2 | 3,801
ependymoma 2 | 4,679
intraductal papillary-mucinous adenoma (IPMA) 2 | 2,955
pancreatic ductal adenocarcinoma liver metastasis 2 | 1,962
Abdominal Pain 1 | 98
Alcoholic Intoxication, Chronic 1 | 289
Amyloidosis 1 | 67
Anogenital venereal wart 1 | 14
Anterior ischemic optic neuropathy 1 | 3
Bleeding time prolonged 1 | 31
Broad flat nasal bridge 1 | 236
Cardiomyopathies 1 | 110
Chediak-Higashi syndrome 1 | 26
Coarse facial features 1 | 108
Dental caries 1 | 164
Epistaxis 1 | 43
Freckles 1 | 33
Gingival Diseases 1 | 19
Gingival Hemorrhage 1 | 18
Griscelli syndrome 1 | 24
HERMANSKY-PUDLAK SYNDROME 8 1 | 1
HERMANSKY-PUDLAK SYNDROME 9 1 | 1
Hair shaft abnormalities 1 | 30
Hematochezia 1 | 9
Hemophagocytic lymphohistiocytosis 1 | 30
Hepatomegaly 1 | 285
Hip Dislocation, Congenital 1 | 48
Hypopigmentation disorder 1 | 25
Increased susceptibility to bacterial infections 1 | 42
Inflammatory Bowel Diseases 1 | 35
Kidney Failure 1 | 111
Long philtrum 1 | 137
Low Vision 1 | 174
Major Depressive Disorder 1 | 301
Melanocytic nevus 1 | 43
Mild Mental Retardation 1 | 70
Mood Disorders 1 | 184
Motor delay 1 | 147
Motor neuron disease 1 | 49
Nasal bridge wide 1 | 236
Neutropenia 1 | 72
Neutrophil count decreased 1 | 47
No development of motor milestones 1 | 147
Noncancerous mole 1 | 28
Ocular albinism 1 | 26
Periodontal Diseases 1 | 21
Photodysphoria 1 | 121
Photophobia 1 | 121
Posteriorly rotated ear 1 | 61
Prenatal onset 1 | 139
Prone to bacterial infection 1 | 42
Recurrent bacterial infection 1 | 42
Reduced visual acuity 1 | 63
Renal Insufficiency 1 | 90
Renal failure in adulthood 1 | 76
Retinal depigmentation 1 | 12
Rotting teeth 1 | 73
Schizoaffective Disorder 1 | 55
Severe visual impairment 1 | 16
Smooth philtrum 1 | 43
Strabismus 1 | 270
Thickened facial skin with coarse facial features 1 | 108
Thin upper lip vermilion 1 | 67
Unipolar Depression 1 | 250
Upward slant of palpebral fissure 1 | 75
Visual Impairment 1 | 174
hair abnormalities (non-specific) 1 | 30
head and neck cancer 1 | 271
medulloblastoma 1 | 720
sarcoidosis 1 | 370
tuberculosis and treatment for 3 months 1 | 179

Tissue

Blood and immune system 10 | 16,909
Cardiovascular System 10 | 15,192
Digestive Tract 10 | 17,369
Endocrine System 10 | 18,159
Female tissues 10 | 17,400
Liver and Pancreas 10 | 16,750
Male tissues 10 | 17,142
Nervous System 10 | 16,725
Respiratory system 10 | 16,393
Skin and soft tissues 10 | 17,230
Urinary Tract 10 | 16,678

Target Family

Non-IDG 10 | 12,091

UniProt Keyword

Hermansky-Pudlak syndrome 10 | 10
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 
Biogenesis of lysosome-related organelles complex 1 subunit 3 BLOC1S3 Tbio Non-IDG -0.81676 0.00000 66
AP-3 complex subunit beta-1 AP3B1 Tbio Non-IDG -1.27699 21.0 89
Hermansky-Pudlak syndrome 3 protein HPS3 Tbio Non-IDG -1.24807 18.4 141
AP-3 complex subunit delta-1 AP3D1 Tbio Non-IDG -0.89464 7.42 56
Biogenesis of lysosome-related organelles complex 1 subunit 6 BLOC1S6 Tbio Non-IDG -1.84171 67.9 109
Hermansky-Pudlak syndrome 6 protein HPS6 Tbio Non-IDG -1.07016 12.2 101
Hermansky-Pudlak syndrome 5 protein HPS5 Tbio Non-IDG -1.16348 15.2 81
Dysbindin DTNBP1 Tbio Non-IDG -2.43980 286.6 321
Hermansky-Pudlak syndrome 1 protein HPS1 Tbio Non-IDG 0.23 0.92 70
Hermansky-Pudlak syndrome 4 protein HPS4 Tbio Non-IDG -1.42209 26.9 19