Showing entry for Li-Fraumeni Syndrome


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD003160
Disease NameLi-Fraumeni Syndrome
Disease CUI IdC0085390
MeSH Codes C16   C04   C18  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional 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
O14757 BXGT004092 Serine/threonine-protein kinase Chk1 1111 reviewed Kinase
O75874 BXGT005157 Isocitrate dehydrogenase [NADP] cytoplasmic 3417 reviewed
O76094 BXGT005177 Signal recognition particle subunit SRP72 6731 reviewed
O96017 BXGT005415 Serine/threonine-protein kinase Chk2 11200 reviewed Kinase
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P03372 BXGT006059 Estrogen receptor 2099 reviewed Nuclear receptor
P04049 BXGT006133 RAF proto-oncogene serine/threonine-protein kinase 5894 reviewed Kinase
P04626 BXGT006238 Receptor tyrosine-protein kinase erbB-2 2064 reviewed Kinase
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P07900 BXGT006696 Heat shock protein HSP 90-alpha 3320 reviewed Chaperone
P10275 BXGT007552 Androgen receptor 367 reviewed Nuclear receptor
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P11511 BXGT007717 Aromatase 1588 reviewed Enzyme
P12004 BXGT007766 Proliferating cell nuclear antigen 5111 reviewed Nucleic acid binding
P12724 BXGT007837 Eosinophil cationic protein 6037 reviewed
P12830 BXGT007852 Cadherin-1 999 reviewed
P14618 BXGT008027 Pyruvate kinase PKM 5315 reviewed Kinase
P15336 BXGT008109 Cyclic AMP-dependent transcription factor ATF-2 1386 reviewed Transcription factor
P16070 BXGT008186 CD44 antigen 960 reviewed
P19544 BXGT008494 Wilms tumor protein 7490 reviewed Nucleic acid binding
P21359 BXGT008640 Neurofibromin 4763 reviewed Enzyme modulator
P24941 BXGT009002 Cyclin-dependent kinase 2 1017 reviewed Kinase
P27707 BXGT009201 Deoxycytidine kinase 1633 reviewed Kinase
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P38936 BXGT010074 Cyclin-dependent kinase inhibitor 1 1026 reviewed
P39019 BXGT010082 40S ribosomal protein S19 6223 reviewed Nucleic acid binding
P40692 BXGT010195 DNA mismatch repair protein Mlh1 4292 reviewed Nucleic acid binding
P41212 BXGT010235 Transcription factor ETV6 2120 reviewed Transcription factor
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P61769 BXGT011383 Beta-2-microglobulin 567 reviewed Immune response
Q00987 BXGT012559 E3 ubiquitin-protein ligase Mdm2 4193 reviewed Nucleic acid binding
Q01196 BXGT012575 Runt-related transcription factor 1 861 reviewed Transcription factor
Q02880 BXGT012677 DNA topoisomerase 2-beta 7155 reviewed
Q13309 BXGT013338 S-phase kinase-associated protein 2 6502 reviewed
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
Q15465 BXGT013573 Sonic hedgehog protein 6469 reviewed
Q16665 BXGT013653 Hypoxia-inducible factor 1-alpha 3091 reviewed Transcription factor
Q9UIF7 BXGT021717 Adenine DNA glycosylase 4595 reviewed Enzyme
Q9UJV9 BXGT021731 Probable ATP-dependent RNA helicase DDX41 51428 reviewed
P35240 BXGT022927 Merlin 4771 reviewed
Q96I25 BXGT024184 Splicing factor 45 84991 reviewed Nucleic acid binding
P16104 BXGT024571 Histone H2AX 3014 reviewed Nucleic acid binding
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