Development Level

Tchem 3 | 1,598
Tbio 2 | 11,445
Tclin 1 | 613

IMPC Phenotype

abnormal behavior 1 | 298
abnormal bone structure 1 | 187
abnormal eye morphology 1 | 68
decreased body length 1 | 101
decreased erythrocyte cell num... 1 | 62
decreased mean corpuscular hem... 1 | 31
decreased total body fat amoun... 1 | 207
improved glucose tolerance 1 | 79
increased mean corpuscular hem... 1 | 96
increased mean corpuscular vol... 1 | 92

Disease

Carcinoma 6 | 11,493
osteosarcoma 4 | 7,950
diabetes mellitus 3 | 1,728
ductal carcinoma in situ 2 | 1,745
group 3 medulloblastoma 2 | 4,104
intraductal papillary-mucinous adenoma (IPMA) 2 | 2,955
malignant mesothelioma 2 | 3,232
ovarian cancer 2 | 8,520
psoriasis 2 | 6,694
Abnormality of the cranial nerves 1 | 7
Abnormality of the metaphyses 1 | 48
Alcohol Withdrawal Seizures 1 | 2
Alcoholic Intoxication, Chronic 1 | 289
Aplasia/Hypoplasia of the skin 1 | 16
Atrial Fibrillation 1 | 124
Big calvaria 1 | 147
Bunion 1 | 26
Cerebral calcification 1 | 43
Chronic heart failure 1 | 46
Congenital Camptodactyly 1 | 40
Congenital Heart Defects 1 | 58
Congenital deafness 1 | 185
Cranial nerve abnormality 1 | 7
Craniofacial hyperostosis 1 | 11
Deafness 1 | 198
Defective tooth enamel 1 | 31
Delayed Puberty 1 | 97
Developmental regression 1 | 95
Diabetes Mellitus, Insulin-Dependent 1 | 48
Diabetes Mellitus, Type 1 1 | 43
Diphtheria 1 | 40
Disease Models, Animal 1 | 155
Dystrophic tooth enamel 1 | 31
Enamel abnormalities 1 | 31
Enlargement of craniofacial bones 1 | 11
Episcleritis 1 | 3
Exophthalmos 1 | 112
Fever 1 | 138
Flexion contracture - elbow 1 | 32
Frequent fractures 1 | 53
Gestational diabetes 1 | 26
Hallux Valgus 1 | 26
Hearing Loss 1 | 17
Hearing Loss, Partial 1 | 185
Heart Defects, Congenital 1 | 37
Hepatosplenomegaly 1 | 22
Highly variable clinical phenotype 1 | 150
Highly variable phenotype and severity 1 | 150
Highly variable phenotype, even within families 1 | 150
Histiocytosis 1 | 12
Huntington Disease 1 | 13
Hyperpigmentation 1 | 37
Hypertrichosis 1 | 46
Hyperuricemia 1 | 49
Hypoplastic vertebral bodies 1 | 7
Imperforate anus 1 | 25
Increased fracture rate 1 | 53
Increased head circumference 1 | 147
Increased size of cranium 1 | 147
Increased size of skull 1 | 147
Irregular vertebral endplates 1 | 16
Isolated somatotropin deficiency 1 | 30
Late tooth eruption 1 | 61
Loss of developmental milestones 1 | 95
Lymphadenopathy 1 | 62
Mental deterioration in childhood 1 | 95
Myocardial Perfusion Imaging Adjunct 1 | 25
Neurodevelopmental regression 1 | 95
Osteosclerosis 1 | 31
Otitis Media 1 | 52
Pancreatic Neoplasm 1 | 85
Pancreatic Neoplasms 1 | 85
Pertussis 1 | 20
Phenotypic variability 1 | 150
Platelet Aggregation Inhibition 1 | 22
Platyspondyly 1 | 56
Pneumonia 1 | 174
Prevention of Cerebral Thrombosis 1 | 29
Primary hypogonadism 1 | 37
Prominent eyes 1 | 96
Prominent globes 1 | 96
Protruding eyes 1 | 96
Psychomotor regression 1 | 95
Psychomotor regression beginning in infancy 1 | 95
Psychomotor regression in infants 1 | 95
Psychomotor regression, progressive 1 | 95
Rhinoscleroma 1 | 5
Rough bone trabeculation 1 | 11
Scleroderma 1 | 7
Scleroderma-like secondary cutaneous sclerosis 1 | 7
Sensorineural Hearing Loss (disorder) 1 | 284
Small testicle 1 | 75
Stiff skin 1 | 3
Systemic lupus erythematosus 1 | 194
Tetanus 1 | 68
Thick craniofacial bones 1 | 11
Varying degree of multiple fractures 1 | 53
active ulcerative colitis 1 | 764
hearing impairment 1 | 199
posterior fossa group B ependymoma 1 | 416

Tissue

Blood and immune system 6 | 16,909
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
Respiratory system 6 | 16,393
Skin and soft tissues 6 | 17,230
Urinary Tract 6 | 16,678
Cardiovascular System 5 | 15,192
Nervous System 5 | 16,725

Target Family

Transporter 6 | 473

Reactome Pathway

Transport of nucleosides and f... 6 | 6
Signal Transduction 2,657 | 2,657
Immune System 2,101 | 2,101
Metabolism of proteins 2,091 | 2,091
Metabolism 2,081 | 2,081
Post-translational protein mod... 1,398 | 1,398
Gene expression (Transcription... 1,369 | 1,369
RNA Polymerase II Transcriptio... 1,228 | 1,228
Signaling by GPCR 1,217 | 1,217
Innate Immune System 1,176 | 1,176
GPCR downstream signalling 1,157 | 1,157
Generic Transcription Pathway 1,108 | 1,108
Developmental Biology 1,026 | 1,026
Adaptive Immune System 892 | 892
Disease 879 | 879
Cytokine Signaling in Immune s... 752 | 752
Metabolism of lipids 739 | 739
Vesicle-mediated transport 720 | 720
Transport of small molecules 717 | 717
Metabolism of RNA 682 | 682
Hemostasis 666 | 666
Membrane Trafficking 608 | 608
Cell Cycle 590 | 590
G alpha (s) signalling events 574 | 574
Neutrophil degranulation 539 | 539
Axon guidance 533 | 533
Cell Cycle, Mitotic 488 | 488
Cellular responses to external... 463 | 463
GPCR ligand binding 459 | 459
Signaling by Interleukins 448 | 448
Class I MHC mediated antigen p... 435 | 435
Signaling by Receptor Tyrosine... 430 | 430
Olfactory Signaling Pathway 428 | 428
Infectious disease 404 | 404
G alpha (i) signalling events 394 | 394
Cellular responses to stress 386 | 386
Signaling by Rho GTPases 386 | 386
Metabolism of amino acids and ... 370 | 370
Diseases of signal transductio... 367 | 367
Neuronal System 367 | 367
Transcriptional Regulation by ... 365 | 365
M Phase 344 | 344
Class A/1 (Rhodopsin-like rece... 322 | 322
Antigen processing: Ubiquitina... 306 | 306
Extracellular matrix organizat... 297 | 297
Translation 297 | 297
Signaling by WNT 293 | 293
Intracellular signaling by sec... 289 | 289
DNA Repair 288 | 288
Asparagine N-linked glycosylat... 287 | 287
MAPK family signaling cascades 285 | 285
Deubiquitination 276 | 276
Interferon Signaling 275 | 275
Immunoregulatory interactions ... 272 | 272
Metabolism of carbohydrates 271 | 271
Cell Cycle Checkpoints 270 | 270
Organelle biogenesis and maint... 261 | 261
PIP3 activates AKT signaling 259 | 259
RHO GTPase Effectors 257 | 257
Platelet activation, signaling... 256 | 256
HIV Infection 254 | 254
MAPK1/MAPK3 signaling 244 | 244
SLC-mediated transmembrane tra... 243 | 243
Processing of Capped Intron-Co... 238 | 238
RAF/MAP kinase cascade 238 | 238
Chromatin modifying enzymes 236 | 236
Chromatin organization 236 | 236
Neddylation 234 | 234
Transmission across Chemical S... 221 | 221
Biological oxidations 220 | 220
Signaling by ROBO receptors 219 | 219
Keratinization 216 | 216
rRNA processing 216 | 216
G alpha (q) signalling events 211 | 211
Cell surface interactions at t... 210 | 210
Phospholipid metabolism 209 | 209
Fc epsilon receptor (FCERI) si... 204 | 204
Transcriptional regulation by ... 203 | 203
Ub-specific processing proteas... 203 | 203
TCF dependent signaling in res... 199 | 199
Muscle contraction 198 | 198
rRNA processing in the nucleus... 192 | 192
Metabolism of vitamins and cof... 188 | 188
Peptide ligand-binding recepto... 188 | 188
mRNA Splicing 187 | 187
Cilium Assembly 186 | 186
Intra-Golgi and retrograde Gol... 186 | 186
Mitotic G2-G2/M phases 184 | 184
Mitotic Metaphase and Anaphase 183 | 183
G2/M Transition 182 | 182
Major pathway of rRNA processi... 182 | 182
Mitotic Anaphase 182 | 182
Mitotic Prometaphase 181 | 181
Fatty acid metabolism 180 | 180
mRNA Splicing - Major Pathway 179 | 179
Ion channel transport 177 | 177
Signaling by the B Cell Recept... 176 | 176
Regulation of expression of SL... 173 | 173
Programmed Cell Death 172 | 172
Interferon gamma signaling 171 | 171
Separation of Sister Chromatid... 170 | 170

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Sodium/nucleoside cotransporter 2 SLC28A2 Tchem Transporter -1.87870 73.2 122
Equilibrative nucleoside transporter 4 SLC29A4 Tchem Transporter -1.89372 80.8 214
Equilibrative nucleoside transporter 3 SLC29A3 Tbio Transporter -2.44355 273.3 75
Equilibrative nucleoside transporter 2 SLC29A2 Tbio Transporter -2.12615 126.7 93
Solute carrier family 28 member 3 SLC28A3 Tchem Transporter -1.73893 55.0 28
Equilibrative nucleoside transporter 1 SLC29A1 Tclin Transporter -2.61544 427.2 413