adisease

General Disease Information
BXGD Id	BXGD002352
Disease Name	Rothmund-Thomson syndrome
Disease CUI Id	C0032339
MeSH Codes	C16 C18 C17
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id	DOID:630 DOID:7
Disease Ontology Class Name	genetic disease; disease of anatomical entity
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
O14746	BXGT004091	Telomerase reverse transcriptase	7015	reviewed	Enzyme
O96017	BXGT005415	Serine/threonine-protein kinase Chk2	11200	reviewed	Kinase
P04637	BXGT006243	Cellular tumor antigen p53	7157	reviewed	Transcription factor
P06730	BXGT006487	Eukaryotic translation initiation factor 4E	1977	reviewed	Nucleic acid binding
P16220	BXGT008206	Cyclic AMP-responsive element-binding protein 1	1385	reviewed
P18887	BXGT008437	DNA repair protein XRCC1	7515	reviewed
P27815	BXGT009208	cAMP-specific 3',5'-cyclic phosphodiesterase 4A	5141	reviewed
P46063	BXGT010501	ATP-dependent DNA helicase Q1	5965	reviewed	Enzyme
P54132	BXGT011032	Bloom syndrome protein	641	reviewed
Q09472	BXGT013038	Histone acetyltransferase p300	2033	reviewed
Q13315	BXGT013339	Serine-protein kinase ATM	472	reviewed	Kinase
Q14191	BXGT013452	Werner syndrome ATP-dependent helicase	7486	reviewed	Enzyme
Q15118	BXGT013540	[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial	5163	reviewed	Kinase
Q16539	BXGT013634	Mitogen-activated protein kinase 14	1432	reviewed	Kinase
Q7L5Y1	BXGT016996	Mitochondrial enolase superfamily member 1	55556	reviewed	Enzyme
Q92793	BXGT019374	CREB-binding protein	1387	reviewed
Q9BQ65	BXGT020107	U6 snRNA phosphodiesterase	79650	reviewed
Q9BY41	BXGT020180	Histone deacetylase 8	55869	reviewed	Epigenetic regulator
P25054	BXGT022961	Adenomatous polyposis coli protein	324	reviewed
P51608	BXGT025073	Methyl-CpG-binding protein 2	4204	reviewed	Epigenetic regulator

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}