Showing entry for Cockayne Syndrome, Type II


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD010301
Disease NameCockayne Syndrome, Type II
Disease CUI IdC0751038
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
O15527 BXGT004176 N-glycosylase/DNA lyase 4968 reviewed
P00374 BXGT005520 Dihydrofolate reductase 1719 reviewed Enzyme
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P09874 BXGT006934 Poly [ADP-ribose] polymerase 1 142 reviewed
P18074 BXGT008374 General transcription and DNA repair factor IIH helicase subunit XPD 2068 reviewed Enzyme
P23560 BXGT008883 Brain-derived neurotrophic factor 627 reviewed Signaling
P28347 BXGT009257 Transcriptional enhancer factor TEF-1 7003 reviewed Transcription factor
P49711 BXGT010728 Transcriptional repressor CTCF 10664 reviewed Transcription factor
P55055 BXGT011101 Oxysterols receptor LXR-beta 7376 reviewed Nuclear receptor
P68363 BXGT011594 Tubulin alpha-1B chain 10376 reviewed Cellular structure
Q01831 BXGT012621 DNA repair protein complementing XP-C cells 7508 reviewed Nucleic acid binding
Q03468 BXGT012716 DNA excision repair protein ERCC-6 2074 reviewed
Q15047 BXGT013528 Histone-lysine N-methyltransferase SETDB1 9869 reviewed
Q15554 BXGT013577 Telomeric repeat-binding factor 2 7014 reviewed
Q16665 BXGT013653 Hypoxia-inducible factor 1-alpha 3091 reviewed Transcription factor
Q5SQI0 BXGT015839 Alpha-tubulin N-acetyltransferase 1 79969 reviewed
Q93009 BXGT019455 Ubiquitin carboxyl-terminal hydrolase 7 7874 reviewed Enzyme
Q9BYW2 BXGT020192 Histone-lysine N-methyltransferase SETD2 29072 reviewed Epigenetic regulator
Q9UBN7 BXGT021658 Histone deacetylase 6 10013 reviewed Epigenetic regulator
Q59FF6 BXGT023693 Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant 2074 unreviewed
P38646 BXGT024954 Stress-70 protein, mitochondrial 3313 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