adisease

General Disease Information
BXGD Id	BXGD015286
Disease Name	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
Disease CUI Id	C1852502
MeSH Codes	C05 C07
Disease Class Name	Musculoskeletal Diseases; Stomatognathic 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
O14788	BXGT004100	Tumor necrosis factor ligand superfamily member 11	8600	reviewed	Signaling
O60674	BXGT004892	Tyrosine-protein kinase JAK2	3717	reviewed	Kinase
O75923	BXGT005166	Dysferlin	8291	reviewed	Transporter
P01137	BXGT005737	Transforming growth factor beta-1 proprotein	7040	reviewed	Signaling
P02545	BXGT005889	Prelamin-A/C	4000	reviewed
P09619	BXGT006911	Platelet-derived growth factor receptor beta	5159	reviewed	Kinase
P11717	BXGT007740	Cation-independent mannose-6-phosphate receptor	3482	reviewed	Receptor
P12821	BXGT007849	Angiotensin-converting enzyme	1636	reviewed	Enzyme
P12931	BXGT007859	Proto-oncogene tyrosine-protein kinase Src	6714	reviewed	Kinase
P15498	BXGT008133	Proto-oncogene vav	7409	reviewed
P16157	BXGT008203	Ankyrin-1	286	reviewed
P20807	BXGT008601	Calpain-3	825	reviewed	Enzyme
P22607	BXGT008784	Fibroblast growth factor receptor 3	2261	reviewed	Kinase
P27708	BXGT009202	CAD protein	790	reviewed	Enzyme
P34949	BXGT009775	Mannose-6-phosphate isomerase	4351	reviewed	Enzyme
P37231	BXGT009972	Peroxisome proliferator-activated receptor gamma	5468	reviewed	Nuclear receptor
P56470	BXGT011173	Galectin-4	3960	reviewed	Signaling
Q14118	BXGT013444	Dystroglycan	1605	reviewed	Receptor
Q9Y259	BXGT022219	Choline/ethanolamine kinase	1120	reviewed	Kinase
Q9H9S5	BXGT024623	Fukutin-related protein	79147	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}