adisease

Showing entry for Arthrogryposis

General Disease Information
BXGD Id	BXGD000238
Disease Name	Arthrogryposis
Disease CUI Id	C0003886
MeSH Codes	C16 C05
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id	HP:0000924 HP:0003549 HP:0003011
Human Phenotype Ontology Term	Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature
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
O00469	BXGT003926	Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2	5352	reviewed	Enzyme
O14656	BXGT004080	Torsin-1A	1861	reviewed	Chaperone
O15146	BXGT004131	Muscle, skeletal receptor tyrosine-protein kinase	4593	reviewed	Kinase
O43175	BXGT004575	D-3-phosphoglycerate dehydrogenase	26227	reviewed	Enzyme
O60331	BXGT004872	Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma	23396	reviewed	Kinase
O75844	BXGT005156	CAAX prenyl protease 1 homolog	10269	reviewed	Enzyme
P01112	BXGT005732	GTPase HRas	3265	reviewed	Enzyme modulator
P01308	BXGT005749	Insulin	3630	reviewed
P02458	BXGT005879	Collagen alpha-1(II) chain	1280	reviewed
P02545	BXGT005889	Prelamin-A/C	4000	reviewed
P02708	BXGT005927	Acetylcholine receptor subunit alpha	1134	reviewed	Ion channel
P03886	BXGT006108	NADH-ubiquinone oxidoreductase chain 1	4535	reviewed	Enzyme
P03905	BXGT006113	NADH-ubiquinone oxidoreductase chain 4	4538	reviewed	Enzyme
P03915	BXGT006114	NADH-ubiquinone oxidoreductase chain 5	4540	reviewed	Enzyme
P03923	BXGT006115	NADH-ubiquinone oxidoreductase chain 6	4541	reviewed
P04062	BXGT006140	Lysosomal acid glucosylceramidase	2629	reviewed
P04626	BXGT006238	Receptor tyrosine-protein kinase erbB-2	2064	reviewed	Kinase
P06753	BXGT006498	Tropomyosin alpha-3 chain	7170	reviewed	Cellular structure
P07510	BXGT006631	Acetylcholine receptor subunit gamma	1146	reviewed	Ion channel
P07711	BXGT006661	Cathepsin L1	1514	reviewed	Enzyme
P08559	BXGT006788	Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial	5160	reviewed
P09467	BXGT006893	Fructose-1,6-bisphosphatase 1	2203	reviewed	Enzyme
P10275	BXGT007552	Androgen receptor	367	reviewed	Nuclear receptor
P12273	BXGT007787	Prolactin-inducible protein	5304	reviewed
P14207	BXGT007993	Folate receptor beta	2350	reviewed
P14784	BXGT008054	Interleukin-2 receptor subunit beta	3560	reviewed	Receptor
P15328	BXGT008108	Folate receptor alpha	2348	reviewed
P16144	BXGT008200	Integrin beta-4	3691	reviewed	Receptor
P18074	BXGT008374	General transcription and DNA repair factor IIH helicase subunit XPD	2068	reviewed	Enzyme
P21817	BXGT008693	Ryanodine receptor 1	6261	reviewed	Ion channel
P21860	BXGT008698	Receptor tyrosine-protein kinase erbB-3	2065	reviewed	Kinase
P22314	BXGT008755	Ubiquitin-like modifier-activating enzyme 1	7317	reviewed	Enzyme
P28329	BXGT009251	Choline O-acetyltransferase	1103	reviewed	Enzyme
P30518	BXGT009428	Vasopressin V2 receptor	554	reviewed	G-protein coupled receptor
P32004	BXGT009594	Neural cell adhesion molecule L1	3897	reviewed
P35557	BXGT009846	Glucokinase	2645	reviewed	Kinase
P37173	BXGT009970	TGF-beta receptor type-2	7048	reviewed	Kinase
P40763	BXGT010202	Signal transducer and activator of transcription 3	6774	reviewed	Nucleic acid binding
P42356	BXGT010305	Phosphatidylinositol 4-kinase alpha	5297	reviewed	Kinase
P43681	BXGT010407	Neuronal acetylcholine receptor subunit alpha-4	1137	reviewed	Ion channel
P46939	BXGT010555	Utrophin	7402	reviewed
P48067	BXGT010619	Sodium- and chloride-dependent glycine transporter 1	6536	reviewed	Transporter
P50993	BXGT010826	Sodium/potassium-transporting ATPase subunit alpha-2	477	reviewed	Transporter
P60880	BXGT011335	Synaptosomal-associated protein 25	6616	reviewed	Transporter
P61106	BXGT011360	Ras-related protein Rab-14	51552	reviewed
P68133	BXGT011578	Actin, alpha skeletal muscle	58	reviewed	Cellular structure
P98160	BXGT012228	Basement membrane-specific heparan sulfate proteoglycan core protein	3339	reviewed	Enzyme modulator
Q00535	BXGT012534	Cyclin-dependent-like kinase 5	1020	reviewed	Kinase
Q01974	BXGT012628	Tyrosine-protein kinase transmembrane receptor ROR2	4920	reviewed	Kinase
Q03468	BXGT012716	DNA excision repair protein ERCC-6	2074	reviewed
Q04446	BXGT012764	1,4-alpha-glucan-branching enzyme	2632	reviewed	Enzyme
Q04844	BXGT012789	Acetylcholine receptor subunit epsilon	1145	reviewed	Ion channel
Q06210	BXGT012864	Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1	2673	reviewed	Enzyme
Q08209	BXGT012968	Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform	5530	reviewed
Q09428	BXGT013036	ATP-binding cassette sub-family C member 8	6833	reviewed	Transporter
Q12756	BXGT013261	Kinesin-like protein KIF1A	547	reviewed	Cellular structure
Q13075	BXGT013308	Baculoviral IAP repeat-containing protein 1	4671	reviewed
Q13885	BXGT013400	Tubulin beta-2A chain	7280	reviewed	Cellular structure
Q13936	BXGT013404	Voltage-dependent L-type calcium channel subunit alpha-1C	775	reviewed	Ion channel
Q14204	BXGT013456	Cytoplasmic dynein 1 heavy chain 1	1778	reviewed	Enzyme
Q14524	BXGT013478	Sodium channel protein type 5 subunit alpha	6331	reviewed	Ion channel
Q14654	BXGT013495	ATP-sensitive inward rectifier potassium channel 11	3767	reviewed	Ion channel
Q15149	BXGT013547	Plectin	5339	reviewed	Cellular structure
Q15392	BXGT013566	Delta(24)-sterol reductase	1718	reviewed	Enzyme
Q16637	BXGT013646	Survival motor neuron protein	6607	reviewed	Epigenetic regulator
Q2TU34	BXGT014223	Fructose-1,6-bisphosphatase 1	2203	unreviewed
Q53EZ4	BXGT015010	Centrosomal protein of 55 kDa	55165	reviewed
Q6ZMI3	BXGT016627	Gliomedin	342035	reviewed
Q8TD19	BXGT018804	Serine/threonine-protein kinase Nek9	91754	reviewed	Kinase
Q8WZ42	BXGT019023	Titin	7273	reviewed	Kinase
Q99572	BXGT019935	P2X purinoceptor 7	5027	reviewed	Ion channel
Q9GZV3	BXGT020427	High affinity choline transporter 1	60482	reviewed	Transporter
Q9H3H5	BXGT020461	UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase	1798	reviewed	Enzyme
Q9HBA0	BXGT020516	Transient receptor potential cation channel subfamily V member 4	59341	reviewed	Ion channel
Q9HD40	BXGT020542	O-phosphoseryl-tRNA(Sec) selenium transferase	51091	reviewed
Q9NY65	BXGT021252	Tubulin alpha-8 chain	51807	reviewed	Cellular structure
Q9UQD0	BXGT021811	Sodium channel protein type 8 subunit alpha	6334	reviewed	Ion channel
Q9Y4D7	BXGT022275	Plexin-D1	23129	reviewed
Q9Y617	BXGT022314	Phosphoserine aminotransferase	29968	reviewed
Q15878	BXGT022659	Voltage-dependent R-type calcium channel subunit alpha-1E	777	reviewed	Ion channel
P00395	BXGT023596	Cytochrome c oxidase subunit 1	4512	reviewed	Enzyme
Q59FF6	BXGT023693	Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant	2074	unreviewed
Q53GS7	BXGT023762	Nucleoporin GLE1	2733	reviewed	Transporter
P51608	BXGT025073	Methyl-CpG-binding protein 2	4204	reviewed	Epigenetic regulator
P28715	BXGT025675	DNA repair protein complementing XP-G cells	2073	reviewed
Q96MF2	BXGT025769	SH3 and cysteine-rich domain-containing protein 3	246329	reviewed
Q96AE4	BXGT025980	Far upstream element-binding protein 1	8880	reviewed	Enzyme
P00403	BXGT026137	Cytochrome c oxidase subunit 2	4513	reviewed	Enzyme

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}