adisease

Showing entry for Achondroplasia

General Disease Information
BXGD Id	BXGD000022
Disease Name	Achondroplasia
Disease CUI Id	C0001080
MeSH Codes	C16 C05
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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
P01019	BXGT005717	Angiotensinogen	183	reviewed	Enzyme modulator
P01270	BXGT005746	Parathyroid hormone	5741	reviewed
P01375	BXGT005753	Tumor necrosis factor	7124	reviewed	Signaling
P02458	BXGT005879	Collagen alpha-1(II) chain	1280	reviewed
P05230	BXGT006344	Fibroblast growth factor 1	2246	reviewed	Signaling
P09038	BXGT006851	Fibroblast growth factor 2	2247	reviewed	Signaling
P10415	BXGT007567	Apoptosis regulator Bcl-2	596	reviewed	Signaling
P21802	BXGT008691	Fibroblast growth factor receptor 2	2263	reviewed	Kinase
P22607	BXGT008784	Fibroblast growth factor receptor 3	2261	reviewed	Kinase
P24385	BXGT008965	G1/S-specific cyclin-D1	595	reviewed	Enzyme modulator
P27361	BXGT009176	Mitogen-activated protein kinase 3	5595	reviewed	Kinase
P28482	BXGT009263	Mitogen-activated protein kinase 1	5594	reviewed	Kinase
P29323	BXGT009334	Ephrin type-B receptor 2	2048	reviewed	Kinase
P33261	BXGT009707	Cytochrome P450 2C19	1557	reviewed
P42224	BXGT010286	Signal transducer and activator of transcription 1-alpha/beta	6772	reviewed	Nucleic acid binding
P51692	BXGT010885	Signal transducer and activator of transcription 5B	6777	reviewed	Nucleic acid binding
Q03692	BXGT012735	Collagen alpha-1(X) chain	1300	reviewed	Extracellular structure
Q8NFD5	BXGT018560	AT-rich interactive domain-containing protein 1B	57492	reviewed
Q96P20	BXGT019704	NACHT, LRR and PYD domains-containing protein 3	114548	reviewed
Q9UBN7	BXGT021658	Histone deacetylase 6	10013	reviewed	Epigenetic regulator
Q16552	BXGT023419	Interleukin-17A	3605	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}