Development Level

Tbio 4 | 11,445
Tchem 1 | 1,598
Tdark 1 | 6,588

IMPC Phenotype

preweaning lethality, incomple... 2 | 499
abnormal coat-hair pigmentatio... 1 | 64
abnormal iris morphology 1 | 13
abnormal response to new envir... 1 | 10
abnormal response to tactile s... 1 | 17
abnormal retina morphology 1 | 71
alopecia 1 | 1
decreased IgE level 1 | 6
decreased body weight 1 | 161
decreased bone mineral density 1 | 126
decreased circulating HDL chol... 1 | 68
decreased circulating alkaline... 1 | 46
decreased circulating choleste... 1 | 93
decreased circulating creatini... 1 | 39
hypoactivity 1 | 132
increased circulating glucose ... 1 | 24
increased circulating serum al... 1 | 22
increased heart weight 1 | 62
increased lymphocyte cell numb... 1 | 32
increased total body fat amoun... 1 | 134
mammalian phenotype 1 | 17
small adrenal glands 1 | 16
tremors 1 | 39
trunk curl 1 | 16

Disease

Carcinoma 5 | 11,493
medulloblastoma, large-cell 5 | 6,241
ovarian cancer 5 | 8,520
Autosomal recessive predisposition 4 | 1,442
Cognitive delay 4 | 608
Dull intelligence 4 | 645
Global developmental delay 4 | 608
Hepatomegaly 4 | 285
Intellectual disability 4 | 1,016
Low intelligence 4 | 645
Mental Retardation 4 | 645
Mental and motor retardation 4 | 608
Mental deficiency 4 | 645
Poor school performance 4 | 645
Splenomegaly 4 | 190
Dysarthria 3 | 192
Epilepsy 3 | 792
Muscle Spasticity 3 | 195
Muscle hypotonia 3 | 571
Seizures 3 | 596
atypical teratoid / rhabdoid tumor 3 | 5,112
glioblastoma 3 | 5,792
group 4 medulloblastoma 3 | 1,855
lung carcinoma 3 | 2,843
osteosarcoma 3 | 7,950
tuberculosis 3 | 2,010
Abnormal cholesterol homeostasis 2 | 2
Astrocytoma, Pilocytic 2 | 3,081
Breast cancer 2 | 3,578
Cataplexy 2 | 11
Cerebellar Ataxia 2 | 304
Deglutition Disorders 2 | 132
Dementia 2 | 175
Down syndrome 2 | 499
Dystonia 2 | 164
Dystonic disease 2 | 106
Fetal ascites 2 | 3
Foam cells in visceral organs and CNS 2 | 2
Kidney cancer 2 | 2,613
Large vacuolated foam cells ('NP cells') on bone marrow biopsy 2 | 5
Loss of speech 2 | 16
Low cholesterol esterification rates 2 | 2
Neonatal Jaundice 2 | 30
Neurodegenerative disease 2 | 414
Neurofibrillary degeneration (morphologic abnormality) 2 | 9
Niemann-Pick disease 2 | 14
Nystagmus 2 | 317
Prolonged neonatal jaundice 2 | 17
Psychotic Disorders 2 | 151
Sea-Blue Histiocyte Syndrome 2 | 7
Vertical gaze palsy 2 | 3
Vertical supranuclear gaze palsy 2 | 3
adult high grade glioma 2 | 3,801
ependymoma 2 | 4,679
intraductal papillary-mucinous neoplasm (IPMN) 2 | 3,291
lung cancer 2 | 4,740
psoriasis 2 | 6,694
Amblyopia 1 | 38
Ataxia 1 | 15
Ataxia, Appendicular 1 | 25
Bushy eyebrows 1 | 49
Class III malocclusion 1 | 78
Decreased nerve conduction velocity 1 | 35
Decreased projection of midface 1 | 105
Edema 1 | 81
Exfoliation Syndrome 1 | 12
Gangliosidosis 1 | 20
Gastrointestinal Stromal Tumors 1 | 48
Gingival Diseases 1 | 19
Hypertrichosis 1 | 46
Hypertrophy of lower jaw 1 | 78
Hypopigmentation disorder 1 | 25
Hypotrophic malar bone 1 | 129
Hypotrophic midface 1 | 105
Immunologic Deficiency Syndromes 1 | 113
Increased size of mandible 1 | 78
Increased susceptibility to bacterial infections 1 | 42
Lymphadenopathy 1 | 62
Malar flattening 1 | 129
Mandibular hyperplasia 1 | 78
Midface retrusion 1 | 105
Neuro-degenerative disease 1 | 43
Neurodegenerative Disorders 1 | 79
Neutrophil count decreased 1 | 47
Periodontal Diseases 1 | 21
Peripheral Neuropathy 1 | 134
Pfaundler-Hurler Syndrome 1 | 12
Photodysphoria 1 | 121
Photophobia 1 | 121
Pigment dispersion syndrome 1 | 11
Pigmentary iris degeneration 1 | 20
Progressive peripheral neuropathy 1 | 3
Prone to bacterial infection 1 | 42
Recurrent bacterial infection 1 | 42
Skin Ulcer 1 | 48
Small midface 1 | 105
Stereotyped Behavior 1 | 37
Stereotypic Movement Disorder 1 | 42
Tularemia 1 | 23
mandibular excess (physical finding) 1 | 78

Tissue

Blood and immune system 6 | 16,909
Cardiovascular System 6 | 15,192
Digestive Tract 6 | 17,369
Endocrine System 6 | 18,159
Female tissues 6 | 17,400
Liver and Pancreas 6 | 16,750
Male tissues 6 | 17,142
Nervous System 6 | 16,725
Respiratory system 6 | 16,393
Skin and soft tissues 6 | 17,230
Urinary Tract 6 | 16,678

Target Family

Non-IDG 5 | 12,091
Enzyme 1 | 4,145

Compartment GO Term

post-lysosomal vacuole 6 | 6
cellular_component 18,320 | 18,320
Cell 16,178 | 16,178
Cell part 16,177 | 16,177
Intracellular 14,108 | 14,108
Intracellular part 13,972 | 13,972
Organelle 12,238 | 12,238
Intracellular organelle 12,025 | 12,025
membrane-bounded organelle 11,132 | 11,132
Cytoplasm 10,983 | 10,983
Intracellular membrane-bounded... 10,341 | 10,341
Cytoplasmic part 9,247 | 9,247
Organelle part 8,976 | 8,976
Intracellular organelle part 8,784 | 8,784
Membrane 8,531 | 8,531
Nucleus 7,562 | 7,562
Cytosol 6,686 | 6,686
Membrane part 6,554 | 6,554
Plasma membrane 5,830 | 5,830
Macromolecular complex 5,475 | 5,475
Intrinsic component of membran... 5,458 | 5,458
Cell periphery 5,382 | 5,382
Integral component of membrane 5,331 | 5,331
Intracellular organelle lumen 5,090 | 5,090
Organelle lumen 5,090 | 5,090
membrane-enclosed lumen 5,090 | 5,090
Nucleoplasm 5,077 | 5,077
Nuclear part 4,290 | 4,290
Endomembrane system 4,237 | 4,237
Intracellular non-membrane-bou... 3,975 | 3,975
non-membrane-bounded organelle 3,974 | 3,974
Nuclear lumen 3,968 | 3,968
Protein complex 3,674 | 3,674
Organelle membrane 2,846 | 2,846
Extracellular region 2,732 | 2,732
Plasma membrane part 2,594 | 2,594
Vesicle 2,342 | 2,342
Cytoplasmic vesicle 2,218 | 2,218
Intracellular vesicle 2,217 | 2,217
Cytoskeleton 2,108 | 2,108
Endoplasmic reticulum 2,001 | 2,001
Bounding membrane of organelle 1,956 | 1,956
Golgi apparatus 1,932 | 1,932
Intrinsic component of plasma ... 1,749 | 1,749
Integral component of plasma m... 1,693 | 1,693
Catalytic complex 1,641 | 1,641
Cytoskeletal part 1,637 | 1,637
Extracellular region part 1,627 | 1,627
Vesicles 1,613 | 1,613
Mitochondrion 1,576 | 1,576
Whole membrane 1,548 | 1,548
Cell projection 1,541 | 1,541
Cytoplasmic vesicle part 1,513 | 1,513
Endoplasmic reticulum part 1,359 | 1,359
GO:0031975 1,150 | 1,150
Organelle envelope 1,142 | 1,142
Microtubule cytoskeleton 1,137 | 1,137
Extracellular space 1,124 | 1,124
Nucleoplasm part 1,122 | 1,122
Nuclear outer membrane-endopla... 1,121 | 1,121
Endoplasmic reticulum membrane 1,103 | 1,103
Chromosome 1,039 | 1,039
Mitochondrial part 1,036 | 1,036
Mitochondria 998 | 998
Secretory vesicle 970 | 970
Neuron part 969 | 969
Supramolecular polymer 967 | 967
Supramolecular complex 966 | 966
Cell junction 960 | 960
Supramolecular fiber 959 | 959
Golgi apparatus part 950 | 950
Nucleoli 942 | 942
Endosome 930 | 930
Nucleolus 926 | 926
Chromosomal part 889 | 889
GO:0098796 884 | 884
Ribonucleoprotein complex 865 | 865
Secretory granule 852 | 852
Cell projection part 850 | 850
Intracellular ribonucleoprotei... 850 | 850
Transferase complex 849 | 849
Cell surface 842 | 842
Plasma membrane region 841 | 841
Vesicle membrane 801 | 801
Cytoplasmic vesicle membrane 795 | 795
Polymeric cytoskeletal fiber 764 | 764
Mitochondrial envelope 746 | 746
Vacuole 732 | 732
Nuclear body 725 | 725
Golgi membrane 724 | 724
Microtubule organizing center 721 | 721
Extracellular matrix 714 | 714
Neuron projection 711 | 711
Centrosome 696 | 696
Mitochondrial membrane 696 | 696
Receptor complex 686 | 686
Synapse 662 | 662
Lysosome 624 | 624
Lytic vacuole 624 | 624
Chromatin 565 | 565
Endosomal part 565 | 565

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Lysosomal-trafficking regulator LYST Tbio Non-IDG -1.96473 92.5 15
Niemann-Pick C1 protein NPC1 Tbio Non-IDG -2.71962 551.3 284
Syntaxin-8 STX8 Tbio Non-IDG -2.59234 391.5 134
Maestro heat-like repeat-containing protein family member 1 MROH1 Tdark Non-IDG -0.30103 2.00 12
Lysosomal alpha-mannosidase MAN2B1 Tchem Enzyme -2.18158 152.9 35
Epididymal secretory protein E1 NPC2 Tbio Non-IDG -2.27168 173.5 172