adisease

Showing entry for Sprengel deformity

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD003592
Disease Name	Sprengel deformity
Disease CUI Id	C0152438
MeSH Codes	C16
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Semantic Type	Congenital Abnormality
Human Phenotype Ontology Id	HP:0000924
Human Phenotype Ontology Term	Abnormality of the skeletal system
Disease Ontology Id	DOID:630 DOID:7 DOID:0080015
Disease Ontology Class Name	genetic disease; disease of anatomical entity; physical disorder
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
O15119	BXGT004128	T-box transcription factor TBX3	6926	reviewed	Transcription factor
P02461	BXGT005880	Collagen alpha-1(III) chain	1281	reviewed
P02545	BXGT005889	Prelamin-A/C	4000	reviewed
P04049	BXGT006133	RAF proto-oncogene serine/threonine-protein kinase	5894	reviewed	Kinase
P10828	BXGT007624	Thyroid hormone receptor beta	7068	reviewed	Nuclear receptor
P15056	BXGT008075	Serine/threonine-protein kinase B-raf	673	reviewed	Kinase
P98160	BXGT012228	Basement membrane-specific heparan sulfate proteoglycan core protein	3339	reviewed	Enzyme modulator
Q06124	BXGT012856	Tyrosine-protein phosphatase non-receptor type 11	5781	reviewed
Q99593	BXGT019939	T-box transcription factor TBX5	6910	reviewed	Transcription factor
Q9UHD8	BXGT021698	Septin-9	10801	reviewed	Enzyme modulator
Q9UMX1	BXGT021778	Suppressor of fused homolog	51684	reviewed
Q13635	BXGT024910	Protein patched homolog 1	5727	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}