adisease

Showing entry for Arachnodactyly

General Disease Information
BXGD Id	BXGD000215
Disease Name	Arachnodactyly
Disease CUI Id	C0003706
MeSH Codes	C16 C05
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
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
O96028	BXGT005417	Histone-lysine N-methyltransferase NSD2	7468	reviewed	Epigenetic regulator
P00519	BXGT005570	Tyrosine-protein kinase ABL1	25	reviewed	Kinase
P02452	BXGT005878	Collagen alpha-1(I) chain	1277	reviewed
P02458	BXGT005879	Collagen alpha-1(II) chain	1280	reviewed
P07510	BXGT006631	Acetylcholine receptor subunit gamma	1146	reviewed	Ion channel
P0DN79	BXGT007511	Cystathionine beta-synthase-like protein	875	reviewed
P10600	BXGT007584	Transforming growth factor beta-3 proprotein	7043	reviewed	Signaling
P11274	BXGT007681	Breakpoint cluster region protein	613	reviewed	Enzyme modulator
P12955	BXGT007865	Xaa-Pro dipeptidase	5184	reviewed	Enzyme
P13224	BXGT007890	Platelet glycoprotein Ib beta chain	2812	reviewed
P16435	BXGT008226	NADPH--cytochrome P450 reductase	5447	reviewed
P17342	BXGT008302	Atrial natriuretic peptide receptor 3	4883	reviewed
P21333	BXGT008638	Filamin-A	2316	reviewed
P21802	BXGT008691	Fibroblast growth factor receptor 2	2263	reviewed	Kinase
P21964	BXGT008714	Catechol O-methyltransferase	1312	reviewed	Enzyme
P22607	BXGT008784	Fibroblast growth factor receptor 3	2261	reviewed	Kinase
P23945	BXGT008931	Follicle-stimulating hormone receptor	2492	reviewed	G-protein coupled receptor
P28300	BXGT009243	Protein-lysine 6-oxidase	4015	reviewed
P28482	BXGT009263	Mitogen-activated protein kinase 1	5594	reviewed	Kinase
P31153	BXGT009512	S-adenosylmethionine synthase isoform type-2	4144	reviewed	Enzyme
P35520	BXGT009842	Cystathionine beta-synthase	875	reviewed
P35555	BXGT009845	Fibrillin-1	2200	reviewed	Calcium-binding protein
P36897	BXGT009941	TGF-beta receptor type-1	7046	reviewed	Kinase
P37173	BXGT009970	TGF-beta receptor type-2	7048	reviewed	Kinase
P52788	BXGT010953	Spermine synthase	6611	reviewed
P53634	BXGT011007	Dipeptidyl peptidase 1	1075	reviewed	Enzyme
P62736	BXGT011452	Actin, aortic smooth muscle	59	reviewed	Cellular structure
P84022	BXGT012027	Mothers against decapentaplegic homolog 3	4088	reviewed	Transcription factor
Q02809	BXGT012674	Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1	5351	reviewed	Enzyme
Q13285	BXGT013335	Steroidogenic factor 1	2516	reviewed	Nuclear receptor
Q13976	BXGT013409	cGMP-dependent protein kinase 1	5592	reviewed	Kinase
Q15652	BXGT013587	Probable JmjC domain-containing histone demethylation protein 2C	221037	reviewed
Q15746	BXGT013591	Myosin light chain kinase, smooth muscle	4638	reviewed	Kinase
Q15751	BXGT013593	Probable E3 ubiquitin-protein ligase HERC1	8925	reviewed	Enzyme modulator
Q7Z3B3	BXGT017249	KAT8 regulatory NSL complex subunit 1	284058	reviewed
Q969G3	BXGT019607	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1	6605	reviewed
Q96C36	BXGT019631	Pyrroline-5-carboxylate reductase 2	29920	reviewed
Q9NRF2	BXGT021185	SH2B adapter protein 1	25970	reviewed
Q9UBV7	BXGT021665	Beta-1,4-galactosyltransferase 7	11285	reviewed
Q9ULV1	BXGT021764	Frizzled-4	8322	reviewed	G-protein coupled receptor
Q9UMX1	BXGT021778	Suppressor of fused homolog	51684	reviewed
Q14657	BXGT024111	EKC/KEOPS complex subunit LAGE3	8270	reviewed
Q9NPF4	BXGT024113	Probable tRNA N6-adenosine threonylcarbamoyltransferase	55644	reviewed	Enzyme
Q9H9S5	BXGT024623	Fukutin-related protein	79147	reviewed
Q13635	BXGT024910	Protein patched homolog 1	5727	reviewed
Q9UNE7	BXGT025000	E3 ubiquitin-protein ligase CHIP	10273	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}