Development Level

Tbio 15 | 11,445
Tchem 8 | 1,598
Tclin 1 | 613
Tdark 1 | 6,588

IMPC Phenotype

decreased circulating glucose ... 2 | 126
increased circulating sodium l... 2 | 71
male infertility 2 | 123
preweaning lethality, complete... 2 | 979
preweaning lethality, incomple... 2 | 499
abnormal bone structure 1 | 187
abnormal coat appearance 1 | 31
decreased bone mineral content 1 | 151
decreased circulating alanine ... 1 | 47
decreased circulating creatini... 1 | 39
decreased fasted circulating g... 1 | 65
decreased mean corpuscular hem... 1 | 50
decreased total body fat amoun... 1 | 207
decreased urine creatinine lev... 1 | 3
embryonic lethality prior to o... 1 | 239
embryonic lethality prior to t... 1 | 278
enlarged heart 1 | 210
increased bone mineral content 1 | 108
increased circulating alkaline... 1 | 122
increased circulating amylase ... 1 | 25
increased circulating magnesiu... 1 | 10
increased circulating phosphat... 1 | 26
increased fasted circulating g... 1 | 76
increased grip strength 1 | 41
increased lean body mass 1 | 172
increased mean platelet volume 1 | 45
thrombocytopenia 1 | 56
tremors 1 | 39

Disease

Carcinoma 17 | 11,493
ovarian cancer 16 | 8,520
psoriasis 13 | 6,694
osteosarcoma 11 | 7,950
atypical teratoid / rhabdoid tumor 10 | 5,112
glioblastoma 10 | 5,792
medulloblastoma, large-cell 10 | 6,241
Astrocytoma, Pilocytic 8 | 3,081
ependymoma 8 | 4,679
lung cancer 8 | 4,740
pituitary cancer 7 | 1,972
Breast cancer 6 | 3,578
group 3 medulloblastoma 6 | 4,104
intraductal papillary-mucinous neoplasm (IPMN) 6 | 3,291
adult high grade glioma 5 | 3,801
intraductal papillary-mucinous carcinoma (IPMC) 5 | 2,989
lung carcinoma 5 | 2,843
malignant mesothelioma 5 | 3,232
tuberculosis 5 | 2,010
Autosomal recessive predisposition 4 | 1,442
Epilepsy 4 | 792
Gaucher's disease 4 | 26
Multiple myeloma 4 | 1,332
Muscle Hypertonia 4 | 88
Muscle hypotonia 4 | 571
Neurodegenerative disease 4 | 414
Seizures 4 | 596
aldosterone-producing adenoma 4 | 665
group 4 medulloblastoma 4 | 1,855
intraductal papillary-mucinous adenoma (IPMA) 4 | 2,955
invasive ductal carcinoma 4 | 2,951
lung adenocarcinoma 4 | 2,716
non-small cell lung cancer 4 | 2,890
pancreatic cancer 4 | 2,398
pediatric high grade glioma 4 | 1,064
posterior fossa group A ependymoma 4 | 468
ulcerative colitis 4 | 1,819
Alzheimer's disease 3 | 658
Cognitive delay 3 | 608
Down syndrome 3 | 499
Global developmental delay 3 | 608
Krabbe disease 3 | 12
Mental and motor retardation 3 | 608
Neuropathy 3 | 261
active ulcerative colitis 3 | 764
acute quadriplegic myopathy 3 | 1,158
astrocytic glioma 3 | 2,597
astrocytoma 3 | 1,146
colon cancer 3 | 1,478
cystic fibrosis 3 | 1,696
hereditary spastic paraplegia 3 | 318
oligodendroglioma 3 | 2,850
pancreatic ductal adenocarcinoma liver metastasis 3 | 1,962
progressive supranuclear palsy 3 | 676
subependymal giant cell astrocytoma 3 | 2,287
urothelial carcinoma 3 | 318
Anemia 2 | 365
Atopic dermatitis 2 | 952
Blind Vision 2 | 111
Blindness, Legal 2 | 110
Cancer 2 | 2,499
Congenital pes cavus 2 | 88
Deafness 2 | 198
Death in early childhood 2 | 82
Death in infancy 2 | 82
Decreased tendon reflex 2 | 122
Dementia 2 | 175
Developmental regression 2 | 95
Distal limb muscle weakness due to peripheral neuropathy 2 | 62
Distal muscle weakness 2 | 62
Dystonia 2 | 164
Dystonic disease 2 | 106
Failure to gain weight 2 | 365
Hearing Loss, Partial 2 | 185
Hemoglobin low 2 | 124
Hepatomegaly 2 | 285
Hyperreflexia 2 | 209
Liver Cirrhosis, Experimental 2 | 769
Liver diseases 2 | 87
Loss of developmental milestones 2 | 95
Mental deterioration in childhood 2 | 95
Multiple Sclerosis 2 | 540
Neurodevelopmental regression 2 | 95
Paraplegia 2 | 74
Pediatric failure to thrive 2 | 365
Peripheral sensorimotor neuropathy 2 | 16
Pick disease 2 | 1,894
Psychomotor regression 2 | 95
Psychomotor regression beginning in infancy 2 | 95
Psychomotor regression in infants 2 | 95
Psychomotor regression, progressive 2 | 95
active Crohn's disease 2 | 922
adrenocortical carcinoma 2 | 1,428
autosomal dominant Emery-Dreifuss muscular dystrophy 2 | 510
esophageal adenocarcinoma 2 | 737
hepatocellular carcinoma 2 | 547
mucosa-associated lymphoid tissue lymphoma 2 | 484
non diabetic and post-ischemic heart failure 2 | 200
primary pancreatic ductal adenocarcinoma 2 | 1,109
spina bifida 2 | 1,074

Tissue

Blood and immune system 24 | 16,909
Cardiovascular System 24 | 15,192
Digestive Tract 24 | 17,369
Endocrine System 24 | 18,159
Female tissues 24 | 17,400
Liver and Pancreas 24 | 16,750
Male tissues 24 | 17,142
Nervous System 24 | 16,725
Respiratory system 24 | 16,393
Skin and soft tissues 24 | 17,230
Urinary Tract 24 | 16,678

Target Family

Enzyme 21 | 4,145
Non-IDG 3 | 12,091
Transcription Factor 1 | 1,400

UniProt Keyword

Sphingolipid metabolism 25 | 25
Complete proteome 20,231 | 20,231
Reference proteome 20,231 | 20,231
Polymorphism 12,194 | 12,194
Alternative splicing 10,528 | 10,528
Phosphoprotein 8,216 | 8,216
Membrane 7,361 | 7,361
3D-structure 6,226 | 6,226
Nucleus 5,259 | 5,259
Transmembrane 5,228 | 5,228
Transmembrane helix 5,207 | 5,207
Cytoplasm 4,952 | 4,952
Repeat 4,916 | 4,916
Glycoprotein 4,623 | 4,623
Metal-binding 3,672 | 3,672
Disulfide bond 3,599 | 3,599
Signal 3,561 | 3,561
Acetylation 3,409 | 3,409
Cell membrane 3,390 | 3,390
Direct protein sequencing 2,872 | 2,872
Disease mutation 2,804 | 2,804
Ubl conjugation 2,439 | 2,439
Transcription 2,402 | 2,402
Zinc 2,356 | 2,356
Transcription regulation 2,336 | 2,336
Coiled coil 2,153 | 2,153
Secreted 2,041 | 2,041
DNA-binding 2,008 | 2,008
Transport 1,985 | 1,985
Zinc-finger 1,785 | 1,785
Transferase 1,782 | 1,782
Nucleotide-binding 1,775 | 1,775
Isopeptide bond 1,739 | 1,739
Hydrolase 1,654 | 1,654
Receptor 1,502 | 1,502
ATP-binding 1,380 | 1,380
Cytoskeleton 1,182 | 1,182
Mitochondrion 1,147 | 1,147
Endoplasmic reticulum 1,119 | 1,119
Methylation 973 | 973
Developmental protein 965 | 965
Transducer 887 | 887
Calcium 875 | 875
Golgi apparatus 838 | 838
G-protein coupled receptor 830 | 830
Cell projection 826 | 826
Lipoprotein 825 | 825
Immunity 717 | 717
Cell junction 709 | 709
Differentiation 703 | 703
Ubl conjugation pathway 684 | 684
RNA-binding 682 | 682
Activator 672 | 672
Cell cycle 647 | 647
Kinase 637 | 637
Ion transport 631 | 631
Immunoglobulin domain 625 | 625
Protein transport 612 | 612
Repressor 602 | 602
Sensory transduction 600 | 600
Oxidoreductase 571 | 571
Magnesium 558 | 558
Transit peptide 544 | 544
Cytoplasmic vesicle 535 | 535
Protease 535 | 535
Apoptosis 533 | 533
Endosome 525 | 525
Cell adhesion 482 | 482
Host-virus interaction 472 | 472
Signal-anchor 458 | 458
Olfaction 435 | 435
Lipid metabolism 432 | 432
Chromosome 388 | 388
Serine-threonine-protein kinas... 388 | 388
Cell division 383 | 383
Synapse 378 | 378
DNA damage 366 | 366
Mental retardation 362 | 362
Ion channel 348 | 348
mRNA processing 340 | 340
GTP-binding 339 | 339
Palmitate 331 | 331
Chromosomal rearrangement 324 | 324
Iron 319 | 319
Neurodegeneration 318 | 318
Leucine-rich repeat 312 | 312
DNA repair 306 | 306
Lysosome 301 | 301
Cleavage on pair of basic resi... 298 | 298
Innate immunity 291 | 291
Chromatin regulator 290 | 290
Ribonucleoprotein 286 | 286
Microtubule 281 | 281
Adaptive immunity 280 | 280
WD repeat 277 | 277
Mitochondrion inner membrane 276 | 276
Mitosis 273 | 273
Actin-binding 272 | 272
mRNA splicing 264 | 264
Neurogenesis 260 | 260
ANK repeat 258 | 258

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Galactocerebrosidase GALC Tbio Enzyme -2.56924 363.2 143
Non-lysosomal glucosylceramidase GBA2 Tchem Enzyme -1.62330 43.1 59
Phosphatidylcholine:ceramide cholinephosphotransferase 1 SGMS1 Tchem Enzyme -1.61164 41.6 0
3-ketodihydrosphingosine reductase KDSR Tbio Enzyme -1.21646 15.3 101
Proactivator polypeptide-like 1 PSAPL1 Tdark Non-IDG 0.00000 75
Beta-1,4 N-acetylgalactosaminyltransferase 1 B4GALNT1 Tbio Enzyme -1.87174 68.8 171
Phosphatidylcholine:ceramide cholinephosphotransferase 2 SGMS2 Tchem Enzyme -1.45924 31.1 204
2-hydroxyacylsphingosine 1-beta-galactosyltransferase UGT8 Tbio Enzyme -1.67729 39.6 148
Ceramide glucosyltransferase UGCG Tclin Enzyme -2.17676 128.8 135
Serine palmitoyltransferase 1 SPTLC1 Tchem Enzyme -2.16711 143.2 285