adisease

Showing entry for Coffin-Siris syndrome

General Disease Information
BXGD Id	BXGD005522
Disease Name	Coffin-Siris syndrome
Disease CUI Id	C0265338
MeSH Codes	C23 C16 C05 C10 F03 C07 F01
Disease Class Name	Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id	DOID:630 DOID:225 DOID:150
Disease Ontology Class Name	genetic disease; syndrome; disease of mental health
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
P01137	BXGT005737	Transforming growth factor beta-1 proprotein	7040	reviewed	Signaling
P01375	BXGT005753	Tumor necrosis factor	7124	reviewed	Signaling
P01911	BXGT005816	HLA class II histocompatibility antigen, DRB1-15 beta chain	3123	reviewed	Immune response
P05107	BXGT006316	Integrin beta-2	3689	reviewed	Receptor
P05164	BXGT006333	Myeloperoxidase	4353	reviewed	Enzyme
P06401	BXGT006436	Progesterone receptor	5241	reviewed	Nuclear receptor
P08253	BXGT006757	72 kDa type IV collagenase	4313	reviewed	Enzyme
P14780	BXGT008053	Matrix metalloproteinase-9	4318	reviewed	Enzyme
P20132	BXGT008546	L-serine dehydratase/L-threonine deaminase	10993	reviewed	Enzyme
P24158	BXGT008951	Myeloblastin	5657	reviewed	Enzyme
P48023	BXGT010604	Tumor necrosis factor ligand superfamily member 6	356	reviewed	Signaling
P48147	BXGT010620	Prolyl endopeptidase	5550	reviewed	Enzyme
P50591	BXGT010814	Tumor necrosis factor ligand superfamily member 10	8743	reviewed	Signaling
P51531	BXGT010851	Probable global transcription activator SNF2L2	6595	reviewed	Epigenetic regulator
P51532	BXGT010852	Transcription activator BRG1	6597	reviewed	Epigenetic regulator
Q00796	BXGT012549	Sorbitol dehydrogenase	6652	reviewed	Enzyme
Q01105	BXGT012569	Protein SET	6418	reviewed	Enzyme modulator
Q13315	BXGT013339	Serine-protein kinase ATM	472	reviewed	Kinase
Q13535	BXGT013370	Serine/threonine-protein kinase ATR	545	reviewed	Kinase
Q8IWS0	BXGT018356	PHD finger protein 6	84295	reviewed	Nucleic acid binding
Q8NFD5	BXGT018560	AT-rich interactive domain-containing protein 1B	57492	reviewed
Q969G3	BXGT019607	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1	6605	reviewed
Q9Y2R2	BXGT022243	Tyrosine-protein phosphatase non-receptor type 22	26191	reviewed
Q92785	BXGT023424	Zinc finger protein ubi-d4	5977	reviewed	Enzyme
Q969H8	BXGT025606	Myeloid-derived growth factor	56005	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}