Showing entry for Nijmegen Breakage Syndrome


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD008233
Disease NameNijmegen Breakage Syndrome
Disease CUI IdC0398791
MeSH Codes C18  
Disease Class NameNutritional and Metabolic Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630  
Disease Ontology Class Namegenetic disease
Disorder Network disorder-protein-compound-food associations
The  disease-related  target proteins
Proteins
Uniport Id BXGT Id Protein Name Gene Status Protein Class
Uniport Id BXGT Id Protein name Gene Status Protein class
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O14746 BXGT004091 Telomerase reverse transcriptase 7015 reviewed Enzyme
O43175 BXGT004575 D-3-phosphoglycerate dehydrogenase 26227 reviewed Enzyme
O75417 BXGT005124 DNA polymerase theta 10721 reviewed Enzyme
O75874 BXGT005157 Isocitrate dehydrogenase [NADP] cytoplasmic 3417 reviewed
P01106 BXGT005730 Myc proto-oncogene protein 4609 reviewed Transcription factor
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P06239 BXGT006427 Tyrosine-protein kinase Lck 3932 reviewed Kinase
P08069 BXGT006723 Insulin-like growth factor 1 receptor 3480 reviewed Kinase
P08133 BXGT006727 Annexin A6 309 reviewed
P08246 BXGT006756 Neutrophil elastase 1991 reviewed Enzyme
P09619 BXGT006911 Platelet-derived growth factor receptor beta 5159 reviewed Kinase
P09874 BXGT006934 Poly [ADP-ribose] polymerase 1 142 reviewed
P11308 BXGT007684 Transcriptional regulator ERG 2078 reviewed Transcription factor
P15531 BXGT008136 Nucleoside diphosphate kinase A 4830 reviewed Kinase
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P18887 BXGT008437 DNA repair protein XRCC1 7515 reviewed
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P38936 BXGT010074 Cyclin-dependent kinase inhibitor 1 1026 reviewed
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P42338 BXGT010303 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform 5291 reviewed Kinase
P43351 BXGT010380 DNA repair protein RAD52 homolog 5893 reviewed Nucleic acid binding
P45973 BXGT010492 Chromobox protein homolog 5 23468 reviewed Epigenetic regulator
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P49917 BXGT010765 DNA ligase 4 3981 reviewed
P49959 BXGT010766 Double-strand break repair protein MRE11 4361 reviewed
P52292 BXGT010925 Importin subunit alpha-1 3838 reviewed Transporter
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P60568 BXGT011315 Interleukin-2 3558 reviewed
Q00987 BXGT012559 E3 ubiquitin-protein ligase Mdm2 4193 reviewed Nucleic acid binding
Q01831 BXGT012621 DNA repair protein complementing XP-C cells 7508 reviewed Nucleic acid binding
Q03164 BXGT012700 Histone-lysine N-methyltransferase 2A 4297 reviewed
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
Q13535 BXGT013370 Serine/threonine-protein kinase ATR 545 reviewed Kinase
Q14116 BXGT013442 Interleukin-18 3606 reviewed
Q14683 BXGT013500 Structural maintenance of chromosomes protein 1A 8243 reviewed
Q15554 BXGT013577 Telomeric repeat-binding factor 2 7014 reviewed
Q8NEM0 BXGT018555 Microcephalin 79648 reviewed Nucleic acid binding
Q96EB6 BXGT019646 NAD-dependent protein deacetylase sirtuin-1 23411 reviewed Epigenetic regulator
Q9BXC0 BXGT020165 Hydroxycarboxylic acid receptor 1 27198 reviewed G-protein coupled receptor
Q9H0F7 BXGT020435 ADP-ribosylation factor-like protein 6 84100 reviewed
Q9NPI8 BXGT021161 Fanconi anemia group F protein 2188 reviewed
Q9Y253 BXGT022216 DNA polymerase eta 5429 reviewed
P16284 BXGT022972 Platelet endothelial cell adhesion molecule 5175 reviewed Cell adhesion
Q92878 BXGT023071 DNA repair protein RAD50 10111 reviewed
P16104 BXGT024571 Histone H2AX 3014 reviewed Nucleic acid binding
P11836 BXGT025994 B-lymphocyte antigen CD20 931 reviewed Receptor
The  disease-related  compounds
Compounds
BXGC Id Compound Name Structure Molecular Weight Number of targets?Number of times compound connecting the disease , higher numbers indicate the compound is more associated with the disease
The  disease-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compounds in food?Number of compounds in food that connecting disease, higher numbers indicate the more compounds in food are more associated with the dusease