Development Level

Tbio 3 | 11,445
Tchem 1 | 1,598

IMPC Phenotype

abnormal coat-hair pigmentatio... 1 | 64
abnormal iris morphology 1 | 13
abnormal retina morphology 1 | 71
increased lymphocyte cell numb... 1 | 32
preweaning lethality, incomple... 1 | 499

Disease

Carcinoma 4 | 11,493
Autosomal recessive predisposition 3 | 1,442
osteosarcoma 3 | 7,950
Breast cancer 2 | 3,578
Cognitive delay 2 | 608
Dull intelligence 2 | 645
Edema 2 | 81
Global developmental delay 2 | 608
Hepatomegaly 2 | 285
Intellectual disability 2 | 1,016
Kidney cancer 2 | 2,613
Low intelligence 2 | 645
Mental Retardation 2 | 645
Mental and motor retardation 2 | 608
Mental deficiency 2 | 645
Nystagmus 2 | 317
Poor school performance 2 | 645
Splenomegaly 2 | 190
atypical teratoid / rhabdoid tumor 2 | 5,112
glioblastoma 2 | 5,792
lung carcinoma 2 | 2,843
malignant mesothelioma 2 | 3,232
medulloblastoma, large-cell 2 | 6,241
ovarian cancer 2 | 8,520
psoriasis 2 | 6,694
tuberculosis 2 | 2,010
Abnormal visual pursuit 1 | 14
Amblyopia 1 | 38
Ataxia, Appendicular 1 | 25
Bushy eyebrows 1 | 49
Chediak-Higashi syndrome 1 | 26
Chronic Kidney Diseases 1 | 13
Class III malocclusion 1 | 78
Coagulation abnormalities 1 | 27
Congenital pectus carinatum 1 | 52
Cranial nerve palsies 1 | 11
Decreased nerve conduction velocity 1 | 35
Decreased platelet count 1 | 111
Decreased projection of midface 1 | 105
Ecchymosis 1 | 66
Epistaxis 1 | 43
Exfoliation Syndrome 1 | 12
Femoral bowing 1 | 20
Foot dorsiflexor weakness 1 | 27
Foot-drop 1 | 27
Generalized hypopigmentation 1 | 12
Gingival Diseases 1 | 19
Gingival Hemorrhage 1 | 18
Gingivitis 1 | 29
Griscelli syndrome type 2 1 | 12
Hematuria 1 | 36
Hemophagocytic lymphohistiocytosis 1 | 30
Hermansky-Pudlak syndrome 1 | 42
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
Impaired smooth pursuit 1 | 14
Increased size of mandible 1 | 78
Increased susceptibility to bacterial infections 1 | 42
Increased tendency to bruise 1 | 66
Increased vertebral height 1 | 4
Lymphadenopathy 1 | 62
Lymphoma 1 | 81
Malar flattening 1 | 129
Mandibular hyperplasia 1 | 78
Midface retrusion 1 | 105
Nephrotic Syndrome 1 | 78
Nerve Degeneration 1 | 121
Neuro-degenerative disease 1 | 43
Neurodegenerative Disorders 1 | 79
Neutrophil count decreased 1 | 47
Oculocutaneous albinism 1 | 29
Paresthesia 1 | 32
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
Platelet storage pool deficiency 1 | 21
Progressive peripheral neuropathy 1 | 3
Progressive renal failure 1 | 13
Prone to bacterial infection 1 | 42
Recurrent bacterial infection 1 | 42
Recurrent bacterial skin infections 1 | 8
Recurrent cutaneous abscess formation 1 | 4
Reduced visual acuity 1 | 63
Skin Ulcer 1 | 48
Small midface 1 | 105
Thrombocytopenia 1 | 197
Tremor 1 | 113
Tubular atrophy 1 | 10
Tularemia 1 | 23
White hair 1 | 7
Widely spaced teeth 1 | 31
mandibular excess (physical finding) 1 | 78

Tissue

Blood and immune system 4 | 16,909
Cardiovascular System 4 | 15,192
Digestive Tract 4 | 17,369
Endocrine System 4 | 18,159
Female tissues 4 | 17,400
Liver and Pancreas 4 | 16,750
Male tissues 4 | 17,142
Nervous System 4 | 16,725
Respiratory system 4 | 16,393
Skin and soft tissues 4 | 17,230
Urinary Tract 4 | 16,678

Target Family

Non-IDG 3 | 12,091
Enzyme 1 | 4,145

Compartment GO Term

Contractile vacuolar membrane 4 | 4
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
Unconventional myosin-Ie MYO1E Tbio Non-IDG -1.68967 54.5 101
Lysosomal alpha-mannosidase MAN2B1 Tchem Enzyme -2.18158 152.9 35
Cytochrome P450 4V2 CYP4V2 Tbio Non-IDG -2.73252 534.7 128