Development Level

Tbio 21 | 11,445
Tchem 1 | 1,598

IMPC Phenotype

preweaning lethality, complete... 5 | 979
abnormal coat-hair pigmentatio... 1 | 64
abnormal vitreous body morphol... 1 | 10
decreased circulating chloride... 1 | 30
decreased circulating choleste... 1 | 93
decreased circulating fructosa... 1 | 30
decreased circulating sodium l... 1 | 22
decreased circulating triglyce... 1 | 79
decreased startle reflex 1 | 75
embryonic lethality prior to o... 1 | 239
improved glucose tolerance 1 | 79
increased circulating chloride... 1 | 41
increased circulating fructosa... 1 | 13
increased circulating sodium l... 1 | 71
increased heart weight 1 | 62
increased mean platelet volume 1 | 45
increased red blood cell distr... 1 | 34
prenatal lethality prior to he... 1 | 87

Disease

Carcinoma 16 | 11,493
ovarian cancer 15 | 8,520
osteosarcoma 10 | 7,950
Dyskeratosis congenita 9 | 24
group 3 medulloblastoma 8 | 4,104
medulloblastoma, large-cell 8 | 6,241
Fetal Growth Retardation 7 | 189
Infant, Small for Gestational Age 7 | 176
Intellectual disability 7 | 1,016
Intrauterine retardation 7 | 176
Short stature 7 | 531
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
Aplasia/Hypoplasia of the skin 6 | 16
Blister of skin 6 | 54
Blood Coagulation Disorders 6 | 42
Bone marrow hypocellularity 6 | 20
Cellular immunodeficiency 6 | 17
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
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
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
Multiple myeloma 6 | 1,332
Neutrophil abnormality 6 | 20
Periodontal Diseases 6 | 21
Poor school performance 6 | 645
Recurrent respiratory infections 6 | 141
Rotting teeth 6 | 73
Rough bone trabeculation 6 | 11
Skin Ulcer 6 | 48
Skin bulla 6 | 54
Small head 6 | 374
Sparse hair 6 | 59
Sweating 6 | 81
Taurodontism 6 | 14
Telangiectasia of the skin 6 | 39
Thin, sparse hair 6 | 59
Thrombocytopenia 6 | 197
Tracheoesophageal Fistula 6 | 36
Urethral Stricture 6 | 18
Varying degree of multiple fractures 6 | 53
Waldenstrons macroglobulinemia 6 | 765
acute quadriplegic myopathy 6 | 1,158
hypopigmented skin patch 6 | 59
lung cancer 6 | 4,740
periodontitis 6 | 293
Autosomal recessive predisposition 5 | 1,442
Kidney cancer 5 | 2,613
Osteoporosis 5 | 363
Pulmonary Fibrosis 5 | 106
Sparse scalp hair 5 | 42
psoriasis 5 | 6,694
Idiopathic pulmonary fibrosis 4 | 23
Breast cancer 3 | 3,578
Cancer 3 | 2,499
Cerebral atrophy 3 | 178
Dilated ventricles (finding) 3 | 121
Failure to gain weight 3 | 365
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
Muscle Hypertonia 3 | 88
Pancytopenia 3 | 45
Pediatric failure to thrive 3 | 365
Phenotypic variability 3 | 150
adrenocortical carcinoma 3 | 1,428
astrocytoma 3 | 1,146
dermatomyositis 3 | 966
diabetes mellitus 3 | 1,728
intraductal papillary-mucinous carcinoma (IPMC) 3 | 2,989
intraductal papillary-mucinous neoplasm (IPMN) 3 | 3,291
juvenile dermatomyositis 3 | 1,187
spina bifida 3 | 1,074

Tissue

Blood and immune system 22 | 16,909
Digestive Tract 22 | 17,369
Endocrine System 22 | 18,159
Cardiovascular System 21 | 15,192
Female tissues 21 | 17,400
Liver and Pancreas 21 | 16,750
Male tissues 21 | 17,142
Nervous System 21 | 16,725
Respiratory system 21 | 16,393
Skin and soft tissues 21 | 17,230
Urinary Tract 21 | 16,678

Target Family

Non-IDG 12 | 12,091
Enzyme 9 | 4,145
Transcription Factor 1 | 1,400

GO Function

telomerase RNA binding 22 | 22
metal ion binding 2,256 | 2,256
DNA binding 1,481 | 1,481
ATP binding 1,477 | 1,477
RNA binding 1,383 | 1,383
identical protein binding 1,084 | 1,084
zinc ion binding 828 | 828
transcription factor activity,... 816 | 816
protein homodimerization activ... 801 | 801
calcium ion binding 690 | 690
G-protein coupled receptor act... 658 | 658
protein heterodimerization act... 473 | 473
olfactory receptor activity 425 | 425
protein kinase binding 410 | 410
chromatin binding 378 | 378
receptor binding 374 | 374
sequence-specific DNA binding 374 | 374
GTP binding 372 | 372
protein serine-threonine kinas... 360 | 360
RNA polymerase II core promote... 346 | 346
enzyme binding 340 | 340
ubiquitin protein ligase bindi... 301 | 301
transcription factor binding 297 | 297
GTPase activity 286 | 286
GTPase activator activity 281 | 281
cadherin binding 277 | 277
transcriptional activator acti... 274 | 274
actin binding 272 | 272
ubiquitin-protein transferase ... 260 | 260
transcription coactivator acti... 249 | 249
serine-type endopeptidase acti... 246 | 246
protein domain specific bindin... 241 | 241
protein complex binding 231 | 231
structural molecule activity 229 | 229
microtubule binding 212 | 212
nucleic acid binding 210 | 210
signal transducer activity 208 | 208
transcription regulatory regio... 205 | 205
RNA polymerase II regulatory r... 204 | 204
receptor activity 202 | 202
transmembrane signaling recept... 202 | 202
ubiquitin protein ligase activ... 202 | 202
transcription corepressor acti... 200 | 200
magnesium ion binding 197 | 197
calmodulin binding 194 | 194
protein C-terminus binding 191 | 191
protein kinase activity 182 | 182
carbohydrate binding 178 | 178
RNA polymerase II transcriptio... 174 | 174
cytokine activity 171 | 171
antigen binding 169 | 169
growth factor activity 162 | 162
heparin binding 161 | 161
protein dimerization activity 161 | 161
structural constituent of ribo... 161 | 161
actin filament binding 151 | 151
iron ion binding 139 | 139
transcriptional activator acti... 139 | 139
Rab GTPase binding 138 | 138
transcriptional repressor acti... 135 | 135
transporter activity 134 | 134
heme binding 129 | 129
ATPase activity 128 | 128
lipid binding 127 | 127
SH3 domain binding 125 | 125
protein tyrosine kinase activi... 122 | 122
ion channel binding 118 | 118
mRNA binding 118 | 118
Ras guanyl-nucleotide exchange... 116 | 116
metalloendopeptidase activity 115 | 115
unfolded protein binding 113 | 113
integrin binding 112 | 112
histone binding 111 | 111
protease binding 108 | 108
histone deacetylase binding 107 | 107
structural constituent of cyto... 107 | 107
guanyl-nucleotide exchange fac... 106 | 106
protein N-terminus binding 106 | 106
peptide antigen binding 103 | 103
hormone activity 96 | 96
serine-type endopeptidase inhi... 96 | 96
odorant binding 94 | 94
kinase binding 92 | 92
single-stranded DNA binding 92 | 92
chaperone binding 91 | 91
oxidoreductase activity 91 | 91
protein tyrosine phosphatase a... 91 | 91
PDZ domain binding 87 | 87
thiol-dependent ubiquitinyl hy... 86 | 86
kinase activity 84 | 84
transcriptional repressor acti... 84 | 84
beta-catenin binding 83 | 83
hydrolase activity 80 | 80
peptidase activity 80 | 80
protein binding, bridging 80 | 80
ATPase binding 79 | 79
double-stranded DNA binding 79 | 79
phospholipid binding 78 | 78
phosphatidylinositol binding 77 | 77
thiol-dependent ubiquitin-spec... 76 | 76
drug binding 75 | 75

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Exosome component 10 EXOSC10 Tbio Non-IDG -2.45249 279.1 123
Telomerase protein component 1 TEP1 Tbio Enzyme -1.74492 50.6 71
Telomerase-binding protein EST1A SMG6 Tbio Enzyme -1.48788 32.6 37
Heterogeneous nuclear ribonucleoprotein U HNRNPU Tbio Non-IDG -2.33813 207.8 169
H/ACA ribonucleoprotein complex subunit 2 NHP2 Tbio Non-IDG -1.51951 28.7 54
Non-canonical poly(A) RNA polymerase PAPD5 PAPD5 Tbio Enzyme -0.76848 4.57 124
5'-3' exoribonuclease 1 XRN1 Tbio Enzyme -2.13482 125.3 51
Protein SMG5 SMG5 Tbio Non-IDG -1.02024 9.67 88
Small nuclear ribonucleoprotein Sm D3 SNRPD3 Tbio Non-IDG -1.64561 38.0 165
H/ACA ribonucleoprotein complex subunit 3 NOP10 Tbio Non-IDG -1.36742 17.7 34