Showing entry for Xeroderma Pigmentosum


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD003043
Disease NameXeroderma Pigmentosum
Disease CUI IdC0043346
MeSH Codes C16   C04   C18   C17  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
Semantic TypeCongenital Abnormality
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
O15527 BXGT004176 N-glycosylase/DNA lyase 4968 reviewed
O60760 BXGT004899 Hematopoietic prostaglandin D synthase 27306 reviewed
O75417 BXGT005124 DNA polymerase theta 10721 reviewed Enzyme
P00492 BXGT005556 Hypoxanthine-guanine phosphoribosyltransferase 3251 reviewed Enzyme
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P01106 BXGT005730 Myc proto-oncogene protein 4609 reviewed Transcription factor
P01111 BXGT005731 GTPase NRas 4893 reviewed Enzyme modulator
P01112 BXGT005732 GTPase HRas 3265 reviewed Enzyme modulator
P01189 BXGT005742 Pro-opiomelanocortin 5443 reviewed
P01215 BXGT005743 Glycoprotein hormones alpha chain 1081 reviewed
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P04818 BXGT006269 Thymidylate synthase 7298 reviewed Enzyme
P05164 BXGT006333 Myeloperoxidase 4353 reviewed Enzyme
P06748 BXGT006497 Nucleophosmin 4869 reviewed Chaperone
P09488 BXGT006899 Glutathione S-transferase Mu 1 2944 reviewed
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P10721 BXGT007605 Mast/stem cell growth factor receptor Kit 3815 reviewed Kinase
P11802 BXGT007750 Cyclin-dependent kinase 4 1019 reviewed Kinase
P11926 BXGT007760 Ornithine decarboxylase 4953 reviewed Enzyme
P12004 BXGT007766 Proliferating cell nuclear antigen 5111 reviewed Nucleic acid binding
P14210 BXGT007994 Hepatocyte growth factor 3082 reviewed Enzyme
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P15559 BXGT008139 NAD(P)H dehydrogenase [quinone] 1 1728 reviewed
P17174 BXGT008289 Aspartate aminotransferase, cytoplasmic 2805 reviewed
P18074 BXGT008374 General transcription and DNA repair factor IIH helicase subunit XPD 2068 reviewed Enzyme
P18440 BXGT008404 Arylamine N-acetyltransferase 1 9 reviewed Enzyme
P18847 BXGT008431 Cyclic AMP-dependent transcription factor ATF-3 467 reviewed Transcription factor
P18887 BXGT008437 DNA repair protein XRCC1 7515 reviewed
P21964 BXGT008714 Catechol O-methyltransferase 1312 reviewed Enzyme
P25105 BXGT009021 Platelet-activating factor receptor 5724 reviewed G-protein coupled receptor
P27695 BXGT009199 DNA-(apurinic or apyrimidinic site) lyase 328 reviewed
P28161 BXGT009234 Glutathione S-transferase Mu 2 2946 reviewed
P30044 BXGT009395 Peroxiredoxin-5, mitochondrial 25824 reviewed
P30711 BXGT009460 Glutathione S-transferase theta-1 2952 reviewed
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P39748 BXGT010134 Flap endonuclease 1 2237 reviewed Enzyme
P40763 BXGT010202 Signal transducer and activator of transcription 3 6774 reviewed Nucleic acid binding
P41208 BXGT010233 Centrin-2 1069 reviewed Calcium-binding protein
P45983 BXGT010494 Mitogen-activated protein kinase 8 5599 reviewed Kinase
P46063 BXGT010501 ATP-dependent DNA helicase Q1 5965 reviewed Enzyme
P49917 BXGT010765 DNA ligase 4 3981 reviewed
P50225 BXGT010781 Sulfotransferase 1A1 6817 reviewed
P50613 BXGT010815 Cyclin-dependent kinase 7 1022 reviewed Kinase
P51946 BXGT010907 Cyclin-H 902 reviewed Enzyme modulator
P55055 BXGT011101 Oxysterols receptor LXR-beta 7376 reviewed Nuclear receptor
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P68400 BXGT011599 Casein kinase II subunit alpha 1457 reviewed Kinase
P78527 BXGT011846 DNA-dependent protein kinase catalytic subunit 5591 reviewed Kinase
Q01726 BXGT012610 Melanocyte-stimulating hormone receptor 4157 reviewed G-protein coupled receptor
Q01831 BXGT012621 DNA repair protein complementing XP-C cells 7508 reviewed Nucleic acid binding
Q03468 BXGT012716 DNA excision repair protein ERCC-6 2074 reviewed
Q07812 BXGT012940 Apoptosis regulator BAX 581 reviewed Signaling
Q08257 BXGT012975 Quinone oxidoreductase 1429 reviewed
Q08345 BXGT012982 Epithelial discoidin domain-containing receptor 1 780 reviewed Kinase
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
Q13535 BXGT013370 Serine/threonine-protein kinase ATR 545 reviewed Kinase
Q13569 BXGT013378 G/T mismatch-specific thymine DNA glycosylase 6996 reviewed
Q15431 BXGT013571 Synaptonemal complex protein 1 6847 reviewed
Q15554 BXGT013577 Telomeric repeat-binding factor 2 7014 reviewed
Q16531 BXGT013633 DNA damage-binding protein 1 1642 reviewed Nucleic acid binding
Q16678 BXGT013656 Cytochrome P450 1B1 1545 reviewed Enzyme
Q16698 BXGT013659 2,4-dienoyl-CoA reductase, mitochondrial 1666 reviewed Enzyme
Q92698 BXGT019362 DNA repair and recombination protein RAD54-like 8438 reviewed
Q93009 BXGT019455 Ubiquitin carboxyl-terminal hydrolase 7 7874 reviewed Enzyme
Q96EB6 BXGT019646 NAD-dependent protein deacetylase sirtuin-1 23411 reviewed Epigenetic regulator
Q99835 BXGT019969 Smoothened homolog 6608 reviewed G-protein coupled receptor
Q9UQ84 BXGT021807 Exonuclease 1 9156 reviewed Enzyme
Q9Y253 BXGT022216 DNA polymerase eta 5429 reviewed
Q9BQA1 BXGT023026 Methylosome protein 50 79084 reviewed
Q59FF6 BXGT023693 Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant 2074 unreviewed
O95251 BXGT024818 Histone acetyltransferase KAT7 11143 reviewed Enzyme
Q13635 BXGT024910 Protein patched homolog 1 5727 reviewed
P38646 BXGT024954 Stress-70 protein, mitochondrial 3313 reviewed
Q8N8Q3 BXGT025150 Endonuclease V 284131 reviewed
P28715 BXGT025675 DNA repair protein complementing XP-G cells 2073 reviewed
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