Showing entry for Trichothiodystrophy Syndromes


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD016614
Disease NameTrichothiodystrophy Syndromes
Disease CUI IdC1955934
MeSH Codes C16   C17  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue 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
P03956 BXGT006120 Interstitial collagenase 4312 reviewed Enzyme
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P05362 BXGT006350 Intercellular adhesion molecule 1 3383 reviewed
P18074 BXGT008374 General transcription and DNA repair factor IIH helicase subunit XPD 2068 reviewed Enzyme
P36956 BXGT009947 Sterol regulatory element-binding protein 1 6720 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
P68871 BXGT011615 Hemoglobin subunit beta 3043 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
Q08345 BXGT012982 Epithelial discoidin domain-containing receptor 1 780 reviewed Kinase
Q96EB6 BXGT019646 NAD-dependent protein deacetylase sirtuin-1 23411 reviewed Epigenetic regulator
Q9BQA1 BXGT023026 Methylosome protein 50 79084 reviewed
Q59FF6 BXGT023693 Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant 2074 unreviewed
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