Showing entry for XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD017769
Disease NameXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
Disease CUI IdC2752147
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 TypeDisease or Syndrome; Congenital 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
A0A024RAV5 BXGT000013 V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b 3845 unreviewed
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O14646 BXGT004079 Chromodomain-helicase-DNA-binding protein 1 1105 reviewed
O15350 BXGT004154 Tumor protein p73 7161 reviewed Transcription factor
O15527 BXGT004176 N-glycosylase/DNA lyase 4968 reviewed
P00374 BXGT005520 Dihydrofolate reductase 1719 reviewed Enzyme
P00813 BXGT005667 Adenosine deaminase 100 reviewed Enzyme
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P03372 BXGT006059 Estrogen receptor 2099 reviewed Nuclear receptor
P03956 BXGT006120 Interstitial collagenase 4312 reviewed Enzyme
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P07900 BXGT006696 Heat shock protein HSP 90-alpha 3320 reviewed Chaperone
P10145 BXGT007542 Interleukin-8 3576 reviewed Signaling
P15559 BXGT008139 NAD(P)H dehydrogenase [quinone] 1 1728 reviewed
P18074 BXGT008374 General transcription and DNA repair factor IIH helicase subunit XPD 2068 reviewed Enzyme
P18887 BXGT008437 DNA repair protein XRCC1 7515 reviewed
P24385 BXGT008965 G1/S-specific cyclin-D1 595 reviewed Enzyme modulator
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P29323 BXGT009334 Ephrin type-B receptor 2 2048 reviewed Kinase
P29372 BXGT009336 DNA-3-methyladenine glycosylase 4350 reviewed Enzyme
P30711 BXGT009460 Glutathione S-transferase theta-1 2952 reviewed
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P35354 BXGT009816 Prostaglandin G/H synthase 2 5743 reviewed Enzyme
P35590 BXGT009854 Tyrosine-protein kinase receptor Tie-1 7075 reviewed Kinase
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P41208 BXGT010233 Centrin-2 1069 reviewed Calcium-binding protein
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
P42858 BXGT010341 Huntingtin 3064 reviewed
P46063 BXGT010501 ATP-dependent DNA helicase Q1 5965 reviewed Enzyme
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
P46527 BXGT010525 Cyclin-dependent kinase inhibitor 1B 1027 reviewed
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P55055 BXGT011101 Oxysterols receptor LXR-beta 7376 reviewed Nuclear receptor
P56537 BXGT011177 Eukaryotic translation initiation factor 6 3692 reviewed Nucleic acid binding
P68400 BXGT011599 Casein kinase II subunit alpha 1457 reviewed Kinase
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
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q16539 BXGT013634 Mitogen-activated protein kinase 14 1432 reviewed Kinase
Q99828 BXGT019967 Calcium and integrin-binding protein 1 10519 reviewed
Q9Y253 BXGT022216 DNA polymerase eta 5429 reviewed
P51784 BXGT023311 Ubiquitin carboxyl-terminal hydrolase 11 8237 reviewed Enzyme
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