Development Level

Tbio 29 | 11,445
Tchem 12 | 1,598
Tdark 4 | 6,588
Tclin 3 | 613

IMPC Phenotype

male infertility 2 | 123
abnormal heart morphology 1 | 162
abnormal seminal vesicle morph... 1 | 114
cataract 1 | 92
decreased circulating creatini... 1 | 39
decreased grip strength 1 | 116
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
ovarian cancer 24 | 8,520
glioblastoma 23 | 5,792
osteosarcoma 20 | 7,950
ependymoma 16 | 4,679
intraductal papillary-mucinous neoplasm (IPMN) 16 | 3,291
psoriasis 16 | 6,694
atypical teratoid / rhabdoid tumor 15 | 5,112
medulloblastoma, large-cell 15 | 6,241
Autosomal recessive predisposition 12 | 1,442
lung cancer 11 | 4,740
malignant mesothelioma 11 | 3,232
tuberculosis 11 | 2,010
Epilepsy 10 | 792
group 4 medulloblastoma 10 | 1,855
Astrocytoma, Pilocytic 9 | 3,081
Gangliosidosis 9 | 20
Gaucher's disease 9 | 26
Seizures 9 | 596
invasive ductal carcinoma 9 | 2,951
lung adenocarcinoma 9 | 2,716
subependymal giant cell astrocytoma 9 | 2,287
Glycoproteinosis 8 | 12
Intellectual disability 8 | 1,016
Metachromatic leukodystrophy 8 | 14
Muscle hypotonia 8 | 571
diabetes mellitus 8 | 1,728
group 3 medulloblastoma 8 | 4,104
non-small cell lung cancer 8 | 2,890
oligodendroglioma 8 | 2,850
pancreatic cancer 8 | 2,398
ulcerative colitis 8 | 1,819
Breast cancer 7 | 3,578
Cherry red spot of the macula 7 | 7
Dull intelligence 7 | 645
Hepatomegaly 7 | 285
Kidney cancer 7 | 2,613
Krabbe disease 7 | 12
Low intelligence 7 | 645
Mental Retardation 7 | 645
Mental deficiency 7 | 645
Mucopolysaccharidosis 7 | 26
Neurodegenerative disease 7 | 414
Poor school performance 7 | 645
Short stature 7 | 531
Splenomegaly 7 | 190
adrenocortical carcinoma 7 | 1,428
adult high grade glioma 7 | 3,801
astrocytoma 7 | 1,146
cystic fibrosis 7 | 1,696
inclusion-cell disease 7 | 16
intraductal papillary-mucinous adenoma (IPMA) 7 | 2,955
Cerebellar Ataxia 6 | 304
Chondrodysplasia punctata 6 | 41
Coarse facial features 6 | 108
Cognitive delay 6 | 608
Congenital deafness 6 | 185
Deafness 6 | 198
Global developmental delay 6 | 608
Hearing Loss, Partial 6 | 185
Mental and motor retardation 6 | 608
Niemann-Pick disease 6 | 14
Thickened facial skin with coarse facial features 6 | 108
astrocytic glioma 6 | 2,597
colon cancer 6 | 1,478
hearing impairment 6 | 199
intraductal papillary-mucinous carcinoma (IPMC) 6 | 2,989
Alzheimer's disease 5 | 658
Cancer 5 | 2,499
Cloudy cornea 5 | 33
Corneal Opacity 5 | 53
Corneal stromal opacities 5 | 33
Gait abnormality 5 | 135
Hyperreflexia 5 | 209
Leukodystrophy 5 | 55
Multiple myeloma 5 | 1,332
Pick disease 5 | 1,894
lung carcinoma 5 | 2,843
non primary Sjogren syndrome sicca 5 | 891
pediatric high grade glioma 5 | 1,064
pituitary cancer 5 | 1,972
primary pancreatic ductal adenocarcinoma 5 | 1,109
primitive neuroectodermal tumor 5 | 3,035
Anemia 4 | 365
Blind Vision 4 | 111
Blindness, Legal 4 | 110
Dementia 4 | 175
Dystonia 4 | 164
Dystonic disease 4 | 106
Failure to gain weight 4 | 365
Liver Cirrhosis, Experimental 4 | 769
Muscle Hypertonia 4 | 88
Optic Atrophy 4 | 242
Pediatric failure to thrive 4 | 365
active ulcerative colitis 4 | 764
acute quadriplegic myopathy 4 | 1,158
cutaneous lupus erythematosus 4 | 1,057
ductal carcinoma in situ 4 | 1,745
interstitial cystitis 4 | 2,312
pancreatic ductal adenocarcinoma liver metastasis 4 | 1,962

Tissue

Digestive Tract 46 | 17,369
Female tissues 46 | 17,400
Liver and Pancreas 46 | 16,750
Skin and soft tissues 46 | 17,230
Urinary Tract 46 | 16,678
Blood and immune system 45 | 16,909
Male tissues 45 | 17,142
Endocrine System 44 | 18,159
Nervous System 44 | 16,725
Cardiovascular System 43 | 15,192
Respiratory system 43 | 16,393

Target Family

Enzyme 37 | 4,145
Non-IDG 8 | 12,091
Kinase 2 | 634
Transcription Factor 1 | 1,400

GO Process

glycosphingolipid metabolic pr... 48 | 48
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 
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