adisease

Showing entry for MASA SYNDROME (disorder)

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD010770
Disease Name	MASA SYNDROME (disorder)
Disease CUI Id	C0795953
MeSH Codes	C23 C16 C10 F03 F01
Disease Class Name	Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
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
O00522	BXGT003935	Krev interaction trapped protein 1	889	reviewed
P00451	BXGT005545	Coagulation factor VIII	2157	reviewed	Enzyme
P08709	BXGT006818	Coagulation factor VII	2155	reviewed	Enzyme
P0DP23	BXGT007520	Calmodulin-1	808	reviewed
P0DP24	BXGT007521	Calmodulin-2	808	reviewed
P30044	BXGT009395	Peroxiredoxin-5, mitochondrial	25824	reviewed
P32004	BXGT009594	Neural cell adhesion molecule L1	3897	reviewed
Q7L266	BXGT016993	Isoaspartyl peptidase/L-asparaginase	80150	reviewed	Enzyme
Q96GD0	BXGT019665	Pyridoxal phosphate phosphatase	57026	reviewed	Enzyme
Q9UHY7	BXGT021709	Enolase-phosphatase E1	58478	reviewed	Enzyme
Q7Z624	BXGT022792	Calmodulin-lysine N-methyltransferase	79823	reviewed
P0DP25	BXGT024595	Calmodulin-3	808	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}