adisease

Showing entry for Rhizomelia

General Disease Information
BXGD Id	BXGD016419
Disease Name	Rhizomelia
Disease CUI Id	C1866730
MeSH Codes
Disease Class Name
Semantic Type	Congenital Abnormality
Human Phenotype Ontology Id	HP:0040064 HP:0000924 HP:0001507
Human Phenotype Ontology Term	Abnormality of limbs; Abnormality of the skeletal system; Growth abnormality
Disease Ontology Id
Disease Ontology Class Name
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
O15357	BXGT004156	Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2	3636	reviewed
O75369	BXGT005119	Filamin-B	2317	reviewed
P02452	BXGT005878	Collagen alpha-1(I) chain	1277	reviewed
P02458	BXGT005879	Collagen alpha-1(II) chain	1280	reviewed
P11362	BXGT007693	Fibroblast growth factor receptor 1	2260	reviewed	Kinase
P22607	BXGT008784	Fibroblast growth factor receptor 3	2261	reviewed	Kinase
P36969	BXGT009949	Phospholipid hydroperoxide glutathione peroxidase	2879	reviewed	Enzyme
P42345	BXGT010304	Serine/threonine-protein kinase mTOR	2475	reviewed	Kinase
P43026	BXGT010351	Growth/differentiation factor 5	8200	reviewed	Signaling
P45452	BXGT010462	Collagenase 3	4322	reviewed	Enzyme
P49585	BXGT010712	Choline-phosphate cytidylyltransferase A	5130	reviewed
Q03164	BXGT012700	Histone-lysine N-methyltransferase 2A	4297	reviewed
Q03431	BXGT012714	Parathyroid hormone/parathyroid hormone-related peptide receptor	5745	reviewed	G-protein coupled receptor
Q14332	BXGT013462	Frizzled-2	2535	reviewed	G-protein coupled receptor
Q14683	BXGT013500	Structural maintenance of chromosomes protein 1A	8243	reviewed
Q15125	BXGT013543	3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase	10682	reviewed	Enzyme
Q15392	BXGT013566	Delta(24)-sterol reductase	1718	reviewed	Enzyme
Q16719	BXGT013662	Kynureninase	8942	reviewed	Enzyme
Q32P28	BXGT014324	Prolyl 3-hydroxylase 1	64175	reviewed	Extracellular structure
Q9UBM7	BXGT021657	7-dehydrocholesterol reductase	1717	reviewed	Enzyme
Q9UBN7	BXGT021658	Histone deacetylase 6	10013	reviewed	Epigenetic regulator
Q9UPZ9	BXGT021804	Serine/threonine-protein kinase ICK	22858	reviewed	Kinase
Q9Y2K2	BXGT022238	Serine/threonine-protein kinase SIK3	23387	reviewed	Kinase

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}