Development Level

Tbio 28 | 11,445
Tchem 11 | 1,598
Tdark 4 | 6,588
Tclin 2 | 613

IMPC Phenotype

male infertility 2 | 123
abnormal heart morphology 1 | 162
abnormal seminal vesicle morph... 1 | 114
decreased circulating creatini... 1 | 39
enlarged heart 1 | 210
enlarged spleen 1 | 41
hypoactivity 1 | 132
increased circulating phosphat... 1 | 26
increased mean corpuscular vol... 1 | 92
preweaning lethality, incomple... 1 | 499
thrombocytosis 1 | 27

Disease

Carcinoma 35 | 11,493
glioblastoma 21 | 5,792
ovarian cancer 21 | 8,520
osteosarcoma 16 | 7,950
ependymoma 14 | 4,679
psoriasis 14 | 6,694
atypical teratoid / rhabdoid tumor 13 | 5,112
intraductal papillary-mucinous neoplasm (IPMN) 13 | 3,291
Autosomal recessive predisposition 11 | 1,442
medulloblastoma, large-cell 10 | 6,241
Epilepsy 9 | 792
lung cancer 9 | 4,740
malignant mesothelioma 9 | 3,232
Gangliosidosis 8 | 20
Gaucher's disease 8 | 26
Glycoproteinosis 8 | 12
Seizures 8 | 596
diabetes mellitus 8 | 1,728
subependymal giant cell astrocytoma 8 | 2,287
tuberculosis 8 | 2,010
Astrocytoma, Pilocytic 7 | 3,081
Cherry red spot of the macula 7 | 7
Hepatomegaly 7 | 285
Intellectual disability 7 | 1,016
Metachromatic leukodystrophy 7 | 14
Muscle hypotonia 7 | 571
Neurodegenerative disease 7 | 414
Short stature 7 | 531
Splenomegaly 7 | 190
astrocytoma 7 | 1,146
cystic fibrosis 7 | 1,696
group 4 medulloblastoma 7 | 1,855
Chondrodysplasia punctata 6 | 41
Coarse facial features 6 | 108
Cognitive delay 6 | 608
Congenital deafness 6 | 185
Deafness 6 | 198
Dull intelligence 6 | 645
Global developmental delay 6 | 608
Hearing Loss, Partial 6 | 185
Krabbe disease 6 | 12
Low intelligence 6 | 645
Mental Retardation 6 | 645
Mental and motor retardation 6 | 608
Mental deficiency 6 | 645
Mucopolysaccharidosis 6 | 26
Niemann-Pick disease 6 | 14
Poor school performance 6 | 645
Thickened facial skin with coarse facial features 6 | 108
group 3 medulloblastoma 6 | 4,104
hearing impairment 6 | 199
inclusion-cell disease 6 | 16
intraductal papillary-mucinous adenoma (IPMA) 6 | 2,955
invasive ductal carcinoma 6 | 2,951
oligodendroglioma 6 | 2,850
pancreatic cancer 6 | 2,398
ulcerative colitis 6 | 1,819
Breast cancer 5 | 3,578
Cerebellar Ataxia 5 | 304
Cloudy cornea 5 | 33
Corneal Opacity 5 | 53
Corneal stromal opacities 5 | 33
Kidney cancer 5 | 2,613
Multiple myeloma 5 | 1,332
Pick disease 5 | 1,894
adult high grade glioma 5 | 3,801
intraductal papillary-mucinous carcinoma (IPMC) 5 | 2,989
lung adenocarcinoma 5 | 2,716
non primary Sjogren syndrome sicca 5 | 891
pediatric high grade glioma 5 | 1,064
primary pancreatic ductal adenocarcinoma 5 | 1,109
Alzheimer's disease 4 | 658
Blind Vision 4 | 111
Blindness, Legal 4 | 110
Clouding of corneal stroma 4 | 50
Dementia 4 | 175
Failure to gain weight 4 | 365
Gait abnormality 4 | 135
Hydrocephalus 4 | 152
Hyperkeratosis 4 | 50
Hyperreflexia 4 | 209
Ichthyosis 4 | 56
Leukodystrophy 4 | 55
Liver Cirrhosis, Experimental 4 | 769
Muscle Hypertonia 4 | 88
Muscle Weakness 4 | 170
Myoclonic Epilepsies, Progressive 4 | 44
Myoclonus 4 | 74
Pediatric failure to thrive 4 | 365
Recurrent respiratory infections 4 | 141
active ulcerative colitis 4 | 764
acute quadriplegic myopathy 4 | 1,158
adrenocortical carcinoma 4 | 1,428
colon cancer 4 | 1,478
lung carcinoma 4 | 2,843
non-small cell lung cancer 4 | 2,890
primitive neuroectodermal tumor 4 | 3,035
dermatomyositis 3 | 966
esophageal adenocarcinoma 3 | 737
pancreatic ductal adenocarcinoma liver metastasis 3 | 1,962

Tissue

Digestive Tract 43 | 17,369
Female tissues 43 | 17,400
Liver and Pancreas 43 | 16,750
Skin and soft tissues 43 | 17,230
Urinary Tract 43 | 16,678
Blood and immune system 42 | 16,909
Male tissues 42 | 17,142
Endocrine System 41 | 18,159
Nervous System 41 | 16,725
Cardiovascular System 40 | 15,192
Respiratory system 40 | 16,393

Target Family

Enzyme 37 | 4,145
Non-IDG 7 | 12,091
Kinase 1 | 634

Reactome Pathway

Glycosphingolipid metabolism 45 | 45
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 
Sphingomyelin phosphodiesterase 4 SMPD4 Tbio Enzyme -0.89678 7.05 66
Galactocerebrosidase GALC Tbio Enzyme -2.56924 363.2 143
Arylsulfatase F ARSF Tbio Enzyme -0.44326 2.74 138
Non-lysosomal glucosylceramidase GBA2 Tchem Enzyme -1.62330 43.1 59
Arylsulfatase J ARSJ Tdark Enzyme -0.22432 1.18 25
Arylsulfatase H ARSH Tbio Enzyme -2.14770 118.6 81
Ceramide-1-phosphate transfer protein CPTP Tbio Non-IDG -1.59665 40.2 6
Sulfatase-modifying factor 1 SUMF1 Tbio Enzyme -2.21118 157.7 145
Arylsulfatase B ARSB Tbio Enzyme -2.51626 314.5 216
Beta-1,4 N-acetylgalactosaminyltransferase 1 B4GALNT1 Tbio Enzyme -1.87174 68.8 171