Development Level

Tbio 14 | 11,445
Tchem 4 | 1,598

IMPC Phenotype

preweaning lethality, complete... 4 | 979
decreased circulating triglyce... 2 | 79
abnormal embryo size 1 | 220
abnormal embryo turning 1 | 31
abnormal pharyngeal arch morph... 1 | 8
abnormal snout morphology 1 | 23
decreased circulating chloride... 1 | 30
decreased circulating choleste... 1 | 93
decreased circulating fructosa... 1 | 30
decreased circulating sodium l... 1 | 22
embryonic growth retardation 1 | 106
embryonic lethality prior to o... 1 | 239
increased circulating HDL chol... 1 | 80
increased circulating chloride... 1 | 41
increased circulating choleste... 1 | 66
increased circulating fructosa... 1 | 13
increased circulating sodium l... 1 | 71
increased grip strength 1 | 41
increased mean corpuscular hem... 1 | 96
increased mean platelet volume 1 | 45
increased red blood cell distr... 1 | 34
male infertility 1 | 123
prenatal lethality prior to he... 1 | 87

Disease

ovarian cancer 13 | 8,520
lung cancer 11 | 4,740
Carcinoma 10 | 11,493
Cancer 7 | 2,499
Dyskeratosis congenita 7 | 24
Multiple myeloma 6 | 1,332
Short stature 6 | 531
medulloblastoma, large-cell 6 | 6,241
osteosarcoma 6 | 7,950
Abnormal blistering of the skin 5 | 54
Abnormality of female internal genitalia 5 | 13
Abnormality of the fingernails 5 | 51
Abnormality of the pharynx 5 | 19
Anemia 5 | 365
Anorectal Malformations 5 | 8
Aplasia/Hypoplasia of the skin 5 | 16
Autosomal recessive predisposition 5 | 1,442
Blister of skin 5 | 54
Blood Coagulation Disorders 5 | 42
Bone marrow hypocellularity 5 | 20
Cellular immunodeficiency 5 | 17
Coagulation abnormalities 5 | 27
Cognitive delay 5 | 608
Decreased platelet count 5 | 111
Dental caries 5 | 164
Dull intelligence 5 | 645
Dystrophia unguium 5 | 53
Esophageal Stenosis 5 | 15
Fetal Growth Retardation 5 | 189
Frequent fractures 5 | 53
Gingival Diseases 5 | 19
Global developmental delay 5 | 608
Hemoglobin low 5 | 124
Hemorrhagic Disorders 5 | 30
Hyperhidrosis disorder 5 | 81
Hyperpigmented macules 5 | 42
Hypodontia 5 | 81
Hypoplastic-absent toenails 5 | 11
Increased fracture rate 5 | 53
Increased sweating 5 | 81
Infant, Small for Gestational Age 5 | 176
Intellectual disability 5 | 1,016
Intrauterine retardation 5 | 176
Large elongated pulp chamber 5 | 14
Leukokeratosis 5 | 19
Leukoplakia, Oral 5 | 20
Low intelligence 5 | 645
Malabsorption 5 | 82
Mental Retardation 5 | 645
Mental and motor retardation 5 | 608
Mental deficiency 5 | 645
Neutrophil abnormality 5 | 20
Periodontal Diseases 5 | 21
Poor school performance 5 | 645
Recurrent respiratory infections 5 | 141
Rotting teeth 5 | 73
Rough bone trabeculation 5 | 11
Skin Ulcer 5 | 48
Skin bulla 5 | 54
Small head 5 | 374
Sparse hair 5 | 59
Sweating 5 | 81
Taurodontism 5 | 14
Telangiectasia of the skin 5 | 39
Thin, sparse hair 5 | 59
Thrombocytopenia 5 | 197
Tracheoesophageal Fistula 5 | 36
Urethral Stricture 5 | 18
Varying degree of multiple fractures 5 | 53
Waldenstrons macroglobulinemia 5 | 765
group 3 medulloblastoma 5 | 4,104
hypopigmented skin patch 5 | 59
periodontitis 5 | 293
psoriasis 5 | 6,694
Breast cancer 4 | 3,578
Kidney cancer 4 | 2,613
Osteoporosis 4 | 363
Pulmonary Fibrosis 4 | 106
Sparse scalp hair 4 | 42
ependymoma 4 | 4,679
non primary Sjogren syndrome sicca 4 | 891
Dry skin 3 | 75
Freckles 3 | 33
Highly variable clinical phenotype 3 | 150
Highly variable phenotype and severity 3 | 150
Highly variable phenotype, even within families 3 | 150
Liver Cirrhosis 3 | 181
Lymphatic Diseases 3 | 14
Melanocytic nevus 3 | 43
Melanoma 3 | 711
Microcephaly 3 | 166
Nail dysplasia 3 | 52
Nevus 3 | 19
Pancytopenia 3 | 45
Phenotypic variability 3 | 150
Pick disease 3 | 1,894
Xerosis 3 | 75
glioblastoma 3 | 5,792
hair abnormalities (non-specific) 3 | 30
lung adenocarcinoma 3 | 2,716

Tissue

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

Target Family

Non-IDG 12 | 12,091
Enzyme 4 | 4,145
Transcription Factor 2 | 1,400

GO Process

telomere maintenance via telom... 18 | 18
transcription, DNA-templated 1,742 | 1,742
regulation of transcription, D... 1,135 | 1,135
G-protein coupled receptor sig... 1,053 | 1,053
signal transduction 1,005 | 1,005
positive regulation of transcr... 932 | 932
negative regulation of transcr... 683 | 683
positive regulation of transcr... 529 | 529
apoptotic process 511 | 511
cell differentiation 511 | 511
negative regulation of transcr... 492 | 492
neutrophil degranulation 484 | 484
negative regulation of apoptot... 479 | 479
positive regulation of cell pr... 470 | 470
innate immune response 469 | 469
multicellular organism develop... 460 | 460
cell adhesion 458 | 458
immune response 426 | 426
viral process 405 | 405
negative regulation of cell pr... 398 | 398
spermatogenesis 389 | 389
intracellular signal transduct... 376 | 376
inflammatory response 373 | 373
cell proliferation 366 | 366
post-translational protein mod... 356 | 356
protein transport 348 | 348
protein ubiquitination 347 | 347
cell division 345 | 345
regulation of transcription fr... 345 | 345
protein phosphorylation 334 | 334
nervous system development 321 | 321
positive regulation of apoptot... 320 | 320
response to drug 303 | 303
cell-cell signaling 300 | 300
positive regulation of gene ex... 297 | 297
transcription from RNA polymer... 286 | 286
protein deubiquitination 271 | 271
cell cycle 268 | 268
regulation of immune response 259 | 259
transport 255 | 255
regulation of apoptotic proces... 250 | 250
MAPK cascade 242 | 242
cell surface receptor signalin... 239 | 239
mRNA splicing, via spliceosome 236 | 236
protein polyubiquitination 222 | 222
angiogenesis 220 | 220
chemical synaptic transmission 219 | 219
cellular response to DNA damag... 217 | 217
proteolysis 217 | 217
proteasome-mediated ubiquitin-... 210 | 210
adaptive immune response 209 | 209
intracellular protein transpor... 209 | 209
DNA repair 206 | 206
leukocyte migration 206 | 206
protein homooligomerization 206 | 206
rRNA processing 204 | 204
extracellular matrix organizat... 198 | 198
visual perception 198 | 198
positive regulation of ERK1 an... 194 | 194
cellular protein metabolic pro... 192 | 192
brain development 188 | 188
axon guidance 186 | 186
Fc-epsilon receptor signaling ... 182 | 182
keratinization 182 | 182
cell migration 181 | 181
defense response to virus 181 | 181
positive regulation of cell mi... 179 | 179
regulation of cell proliferati... 177 | 177
in utero embryonic development 176 | 176
Wnt signaling pathway 175 | 175
cilium assembly 175 | 175
blood coagulation 170 | 170
RNA splicing 169 | 169
translation 169 | 169
mRNA processing 168 | 168
protein autophosphorylation 168 | 168
aging 167 | 167
response to hypoxia 166 | 166
T cell receptor signaling path... 164 | 164
heart development 164 | 164
negative regulation of canonic... 164 | 164
positive regulation of I-kappa... 164 | 164
ubiquitin-dependent protein ca... 164 | 164
ER to Golgi vesicle-mediated t... 162 | 162
protein stabilization 160 | 160
response to lipopolysaccharide 160 | 160
transcription initiation from ... 160 | 160
defense response to bacterium 159 | 159
protein folding 159 | 159
sensory perception of smell 157 | 157
homophilic cell adhesion via p... 156 | 156
transmembrane transport 154 | 154
negative regulation of gene ex... 151 | 151
interferon-gamma-mediated sign... 150 | 150
receptor-mediated endocytosis 150 | 150
ion transmembrane transport 148 | 148
peptidyl-serine phosphorylatio... 148 | 148
positive regulation of protein... 148 | 148
antigen processing and present... 143 | 143
DNA replication 142 | 142
cell cycle arrest 142 | 142

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
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
Replication factor C subunit 1 RFC1 Tbio Non-IDG -1.43459 26.5 198
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
Protein SMG7 SMG7 Tbio Non-IDG -1.17329 16.2 66
Protection of telomeres protein 1 POT1 Tbio Non-IDG -1.81787 59.9 202
Telomerase Cajal body protein 1 WRAP53 Tbio Enzyme -1.50893 31.5 58
H/ACA ribonucleoprotein complex subunit 1 GAR1 Tbio Non-IDG -0.33131 2.70 86
Double-strand break repair protein MRE11 MRE11 Tbio Non-IDG -2.02762 98.5 459