adisease

Showing entry for Schimke immunoosseous dysplasia

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD011330
Disease Name	Schimke immunoosseous dysplasia
Disease CUI Id	C0877024
MeSH Codes	C16 C13 C05 C12 C08 C20 C14
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases
Semantic Type	Congenital Abnormality
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
O60218	BXGT004858	Aldo-keto reductase family 1 member B10	57016	reviewed	Enzyme
P07686	BXGT006657	Beta-hexosaminidase subunit beta	3074	reviewed	Enzyme
P16871	BXGT008269	Interleukin-7 receptor subunit alpha	3575	reviewed	Receptor
P17900	BXGT008353	Ganglioside GM2 activator	2760	reviewed	Transporter
P46531	BXGT010526	Neurogenic locus notch homolog protein 1	4851	reviewed
P51531	BXGT010851	Probable global transcription activator SNF2L2	6595	reviewed	Epigenetic regulator
P51532	BXGT010852	Transcription activator BRG1	6597	reviewed	Epigenetic regulator
Q9BZ23	BXGT020194	Pantothenate kinase 2, mitochondrial	80025	reviewed	Kinase
Q5FWF4	BXGT023211	DNA annealing helicase and endonuclease ZRANB3	84083	reviewed
Q9BY76	BXGT025687	Angiopoietin-related protein 4	51129	reviewed	Signaling
Q86SQ9	BXGT025875	Dehydrodolichyl diphosphate synthase complex subunit DHDDS	79947	reviewed	Enzyme
Q9UKU9	BXGT025985	Angiopoietin-related protein 2	23452	reviewed	Signaling

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}