Showing entry for Cockayne Syndrome, Type I


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD010302
Disease NameCockayne Syndrome, Type I
Disease CUI IdC0751039
MeSH Codes C16   C18   C05   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System 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
O75417 BXGT005124 DNA polymerase theta 10721 reviewed Enzyme
P01137 BXGT005737 Transforming growth factor beta-1 proprotein 7040 reviewed Signaling
P01589 BXGT005773 Interleukin-2 receptor subunit alpha 3559 reviewed Receptor
P02649 BXGT005909 Apolipoprotein E 348 reviewed
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04839 BXGT006273 Cytochrome b-245 heavy chain 1536 reviewed Ion channel
P05091 BXGT006312 Aldehyde dehydrogenase, mitochondrial 217 reviewed Enzyme
P05231 BXGT006345 Interleukin-6 3569 reviewed
P08183 BXGT006741 ATP-dependent translocase ABCB1 5243 reviewed Transporter
P08581 BXGT006794 Hepatocyte growth factor receptor 4233 reviewed Kinase
P08758 BXGT006821 Annexin A5 308 reviewed
P09601 BXGT006909 Heme oxygenase 1 3162 reviewed
P10144 BXGT007541 Granzyme B 3002 reviewed Enzyme
P10147 BXGT007543 C-C motif chemokine 3 6348 reviewed Signaling
P12643 BXGT007830 Bone morphogenetic protein 2 650 reviewed Signaling
P13500 BXGT007916 C-C motif chemokine 2 6347 reviewed Signaling
P14618 BXGT008027 Pyruvate kinase PKM 5315 reviewed Kinase
P14784 BXGT008054 Interleukin-2 receptor subunit beta 3560 reviewed Receptor
P15121 BXGT008083 Aldo-keto reductase family 1 member B1 231 reviewed Enzyme
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P16871 BXGT008269 Interleukin-7 receptor subunit alpha 3575 reviewed Receptor
P18074 BXGT008374 General transcription and DNA repair factor IIH helicase subunit XPD 2068 reviewed Enzyme
P20815 BXGT008604 Cytochrome P450 3A5 1577 reviewed Enzyme
P21964 BXGT008714 Catechol O-methyltransferase 1312 reviewed Enzyme
P22557 BXGT008783 5-aminolevulinate synthase, erythroid-specific, mitochondrial 212 reviewed Enzyme
P23560 BXGT008883 Brain-derived neurotrophic factor 627 reviewed Signaling
P27169 BXGT009161 Serum paraoxonase/arylesterase 1 5444 reviewed
P27361 BXGT009176 Mitogen-activated protein kinase 3 5595 reviewed Kinase
P28907 BXGT009301 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 952 reviewed Enzyme
P29474 BXGT009352 Nitric oxide synthase, endothelial 4846 reviewed
P30405 BXGT009423 Peptidyl-prolyl cis-trans isomerase F, mitochondrial 10105 reviewed
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P35869 BXGT009877 Aryl hydrocarbon receptor 196 reviewed Transcription factor
P38936 BXGT010074 Cyclin-dependent kinase inhibitor 1 1026 reviewed
P49585 BXGT010712 Choline-phosphate cytidylyltransferase A 5130 reviewed
P78380 BXGT011841 Oxidized low-density lipoprotein receptor 1 4973 reviewed
Q01831 BXGT012621 DNA repair protein complementing XP-C cells 7508 reviewed Nucleic acid binding
Q03468 BXGT012716 DNA excision repair protein ERCC-6 2074 reviewed
Q14116 BXGT013442 Interleukin-18 3606 reviewed
Q16637 BXGT013646 Survival motor neuron protein 6607 reviewed Epigenetic regulator
Q96AZ6 BXGT019621 Interferon-stimulated gene 20 kDa protein 3669 reviewed
Q9BZS1 BXGT020203 Forkhead box protein P3 50943 reviewed
Q9Y253 BXGT022216 DNA polymerase eta 5429 reviewed
P16284 BXGT022972 Platelet endothelial cell adhesion molecule 5175 reviewed Cell adhesion
Q59FF6 BXGT023693 Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant 2074 unreviewed
P38646 BXGT024954 Stress-70 protein, mitochondrial 3313 reviewed
O94901 BXGT025393 SUN domain-containing protein 1 23353 reviewed Cellular structure
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