Development Level

Tbio 12 | 11,445
Tchem 4 | 1,598
Tclin 4 | 613

IMPC Phenotype

abnormal embryo size 1 | 220
abnormal eyelid fusion 1 | 3
abnormal facial morphology 1 | 17
decreased startle reflex 1 | 75
embryonic growth retardation 1 | 106
hemorrhage 1 | 23
increased fasted circulating g... 1 | 76
increased vertical activity 1 | 24
preweaning lethality, complete... 1 | 979
preweaning lethality, incomple... 1 | 499
short tibia 1 | 97

Disease

Severe combined immunodeficiency 20 | 51
osteosarcoma 17 | 7,950
Autosomal recessive predisposition 15 | 1,442
Carcinoma 15 | 11,493
Failure to gain weight 15 | 365
Pediatric failure to thrive 15 | 365
Cancer 12 | 2,499
ovarian cancer 12 | 8,520
lung cancer 11 | 4,740
psoriasis 11 | 6,694
Diarrhea 9 | 253
interstitial cystitis 9 | 2,312
Hepatomegaly 8 | 285
Panhypogammaglobulinemia 8 | 9
Pneumonia 8 | 174
Recurrent fungal infections 8 | 13
Splenomegaly 8 | 190
intraductal papillary-mucinous neoplasm (IPMN) 8 | 3,291
Chronic diarrhea 7 | 29
Fever 7 | 138
Increased susceptibility to bacterial infections 7 | 42
Lymphadenopathy 7 | 62
Lymphopenia 7 | 67
Omenn syndrome 7 | 13
Prone to bacterial infection 7 | 42
Recurrent bacterial infection 7 | 42
Recurrent viral infections 7 | 15
glioblastoma 7 | 5,792
medulloblastoma, large-cell 7 | 6,241
Absence of eyebrows 6 | 31
Agammaglobulinemia 6 | 34
Alopecia 6 | 115
Aplasia/Hypoplasia of the eyebrow 6 | 31
Atypical lymphocyte observed 6 | 10
Colitis 6 | 54
Desquamation of skin soon after birth 6 | 10
Diffusely thickened skin 6 | 20
Dry skin 6 | 75
Edema 6 | 81
Eosinophilia 6 | 28
Exfoliative dermatitis 6 | 24
Kidney cancer 6 | 2,613
Pachyderma 6 | 20
Pruritus 6 | 58
Sparse or absent eyebrows 6 | 31
Sparse/absent eyebrows 6 | 31
Xerosis 6 | 75
cutaneous lupus erythematosus 6 | 1,057
ependymoma 6 | 4,679
intraductal papillary-mucinous carcinoma (IPMC) 6 | 2,989
ulcerative colitis 6 | 1,819
Encephalitis 5 | 64
Infantile onset 5 | 238
Lack of delayed skin hypersensitivity reaction 5 | 5
Lower respiratory tract infection 5 | 14
Malabsorption 5 | 82
Otitis Media 5 | 52
Recurrent lower respiratory tract infection 5 | 12
Recurrent upper respiratory tract infection 5 | 21
Rheumatoid arthritis 5 | 1,191
adult high grade glioma 5 | 3,801
group 3 medulloblastoma 5 | 4,104
lung adenocarcinoma 5 | 2,716
Absent peripheral blood T cells 4 | 4
Anemia 4 | 365
Arthritis 4 | 290
BILIARY TRACT ABNORMALITY 4 | 16
Biliary Tract Diseases 4 | 16
Biopsy shows villous atrophy 4 | 16
Breast cancer 4 | 3,578
Candidiasis, Chronic Mucocutaneous 4 | 11
Chronic lymphocytic meningitis 4 | 4
Congenital hypoplasia of thymus 4 | 15
DNA ligase IV deficiency 4 | 7
Duodenal villous atrophy 4 | 16
Eczema 4 | 45
Failure to thrive secondary to recurrent infections 4 | 4
Frequent opportunistic infections 4 | 5
Liver Cirrhosis, Experimental 4 | 769
MHC class II deficiency 4 | 6
Major histocompatibility complex class II deficiency 4 | 4
Multiple Sclerosis 4 | 540
Neutrophil count decreased 4 | 47
Protracted diarrhea 4 | 6
Recurrent respiratory infections 4 | 141
Recurrent urinary tract infection 4 | 24
Severe T lymphocytopenia 4 | 4
Small intestine biopsy shows villous atrophy 4 | 16
Variable degree of villous atrophy 4 | 16
Villous atrophy 4 | 16
Villous atrophy of intestine 4 | 16
Viral hepatitis 4 | 5
breast carcinoma 4 | 1,638
intraductal papillary-mucinous adenoma (IPMA) 4 | 2,955
invasive ductal carcinoma 4 | 2,951
lung carcinoma 4 | 2,843
non-small cell lung cancer 4 | 2,890
oligodendroglioma 4 | 2,850
pancreatic ductal adenocarcinoma liver metastasis 4 | 1,962
primary Sjogren syndrome 4 | 735

Tissue

Blood and immune system 20 | 16,909
Endocrine System 20 | 18,159
Liver and Pancreas 20 | 16,750
Male tissues 20 | 17,142
Urinary Tract 20 | 16,678
Digestive Tract 19 | 17,369
Female tissues 19 | 17,400
Nervous System 19 | 16,725
Respiratory system 19 | 16,393
Skin and soft tissues 19 | 17,230
Cardiovascular System 18 | 15,192

Target Family

Non-IDG 9 | 12,091
Kinase 5 | 634
Enzyme 3 | 4,145
Transcription Factor 2 | 1,400
Epigenetic 1 | 242

UniProt Keyword

SCID 20 | 20
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 
Adenylate kinase 2, mitochondrial AK2 Tbio Kinase -2.00007 98.7 330
V(D)J recombination-activating protein 1 RAG1 Tbio Non-IDG -3.05993 1094.2 84
DNA ligase 4 LIG4 Tbio Enzyme -2.14909 140.9 204
MHC class II transactivator CIITA Tbio Non-IDG -2.63957 506.8 146
Regulatory factor X-associated protein RFXAP Tbio Non-IDG -1.24766 15.8 141
Non-homologous end-joining factor 1 NHEJ1 Tbio Non-IDG -1.93558 91.5 270
B-cell lymphoma/leukemia 11B BCL11B Tbio Transcription Factor -2.10918 140.4 186
T-cell surface glycoprotein CD3 delta chain CD3D Tclin Non-IDG -2.41767 251.2 546
V(D)J recombination-activating protein 2 RAG2 Tbio Epigenetic -2.94111 784.2 194
DNA-dependent protein kinase catalytic subunit PRKDC Tchem Kinase -2.85973 723.4 1160