Development Level

Tbio 16 | 11,445
Tchem 5 | 1,598

IMPC Phenotype

preweaning lethality, complete... 3 | 979
decreased prepulse inhibition 1 | 82
increased mean platelet volume 1 | 45
increased startle reflex 1 | 112

Disease

Carcinoma 13 | 11,493
ovarian cancer 12 | 8,520
Dyskeratosis congenita 10 | 24
Cancer 9 | 2,499
osteosarcoma 9 | 7,950
Short stature 8 | 531
Telangiectasia of the skin 8 | 39
Aplasia/Hypoplasia of the skin 7 | 16
Cellular immunodeficiency 7 | 17
Recurrent respiratory infections 7 | 141
Skin Ulcer 7 | 48
Sparse scalp hair 7 | 42
lung cancer 7 | 4,740
Abnormal blistering of the skin 6 | 54
Abnormality of female internal genitalia 6 | 13
Abnormality of the fingernails 6 | 51
Abnormality of the pharynx 6 | 19
Anemia 6 | 365
Anorectal Malformations 6 | 8
Blister of skin 6 | 54
Blood Coagulation Disorders 6 | 42
Bone marrow hypocellularity 6 | 20
Coagulation abnormalities 6 | 27
Cognitive delay 6 | 608
Decreased platelet count 6 | 111
Dental caries 6 | 164
Dull intelligence 6 | 645
Dystrophia unguium 6 | 53
Esophageal Stenosis 6 | 15
Fetal Growth Retardation 6 | 189
Frequent fractures 6 | 53
Gingival Diseases 6 | 19
Global developmental delay 6 | 608
Hemoglobin low 6 | 124
Hemorrhagic Disorders 6 | 30
Hyperhidrosis disorder 6 | 81
Hyperpigmented macules 6 | 42
Hypodontia 6 | 81
Hypoplastic-absent toenails 6 | 11
Increased fracture rate 6 | 53
Increased sweating 6 | 81
Infant, Small for Gestational Age 6 | 176
Intellectual disability 6 | 1,016
Intrauterine retardation 6 | 176
Large elongated pulp chamber 6 | 14
Leukokeratosis 6 | 19
Leukoplakia, Oral 6 | 20
Low intelligence 6 | 645
Malabsorption 6 | 82
Mental Retardation 6 | 645
Mental and motor retardation 6 | 608
Mental deficiency 6 | 645
Neutrophil abnormality 6 | 20
Osteoporosis 6 | 363
Periodontal Diseases 6 | 21
Poor school performance 6 | 645
Premature canities 6 | 24
Pulmonary Fibrosis 6 | 106
Rotting teeth 6 | 73
Rough bone trabeculation 6 | 11
Skin bulla 6 | 54
Small head 6 | 374
Sparse hair 6 | 59
Sweating 6 | 81
Taurodontism 6 | 14
Thin, sparse hair 6 | 59
Thrombocytopenia 6 | 197
Tracheoesophageal Fistula 6 | 36
Urethral Stricture 6 | 18
Varying degree of multiple fractures 6 | 53
group 3 medulloblastoma 6 | 4,104
hypopigmented skin patch 6 | 59
medulloblastoma, large-cell 6 | 6,241
periodontitis 6 | 293
Autosomal recessive predisposition 5 | 1,442
HOYERAAL-HREIDARSSON SYNDROME 5 | 6
Hair shaft abnormalities 5 | 30
hair abnormalities (non-specific) 5 | 30
non primary Sjogren syndrome sicca 5 | 891
psoriasis 5 | 6,694
Breast cancer 4 | 3,578
Cerebral atrophy 4 | 178
Dilated ventricles (finding) 4 | 121
Dry skin 4 | 75
Failure to gain weight 4 | 365
Fanconi anemia 4 | 56
Hereditary Melanoma 4 | 12
Highly variable clinical phenotype 4 | 150
Highly variable phenotype and severity 4 | 150
Highly variable phenotype, even within families 4 | 150
Immunologic Deficiency Syndromes 4 | 113
Kidney cancer 4 | 2,613
Liver Cirrhosis 4 | 181
MELANOMA, CUTANEOUS MALIGNANT, 1 4 | 13
Melanoma 4 | 711
Muscle Hypertonia 4 | 88
Pediatric failure to thrive 4 | 365
Phenotypic variability 4 | 150
Pick disease 4 | 1,894
Xerosis 4 | 75

Tissue

Blood and immune system 21 | 16,909
Digestive Tract 21 | 17,369
Endocrine System 21 | 18,159
Cardiovascular System 20 | 15,192
Female tissues 20 | 17,400
Liver and Pancreas 20 | 16,750
Male tissues 20 | 17,142
Nervous System 20 | 16,725
Respiratory system 20 | 16,393
Skin and soft tissues 20 | 17,230
Urinary Tract 20 | 16,678

Target Family

Non-IDG 10 | 12,091
Enzyme 6 | 4,145
Transcription Factor 3 | 1,400
Epigenetic 1 | 242
Kinase 1 | 634

Compartment GO Term

Shelterin complex 21 | 21
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 
TP53-binding protein 1 TP53BP1 Tbio Epigenetic -2.69485 464.8 577
Regulator of telomere elongation helicase 1 RTEL1 Tbio Enzyme -2.66156 233.0 85
Telomeric repeat-binding factor 2-interacting protein 1 TERF2IP Tchem Non-IDG -0.75509 5.75 308
H/ACA ribonucleoprotein complex subunit 2 NHP2 Tbio Non-IDG -1.51951 28.7 54
CST complex subunit CTC1 CTC1 Tbio Non-IDG -1.74818 54.2 49
Telomeric repeat-binding factor 2 TERF2 Tbio Transcription Factor -2.23836 174.6 367
H/ACA ribonucleoprotein complex subunit 3 NOP10 Tbio Non-IDG -1.36742 17.7 34
Telomerase reverse transcriptase TERT Tchem Enzyme -3.56910 3506.4 643
TERF1-interacting nuclear factor 2 TINF2 Tbio Non-IDG -2.03707 99.1 138
Protection of telomeres protein 1 POT1 Tbio Non-IDG -1.81787 59.9 202