adisease

Showing entry for Blue sclera

General Disease Information
BXGD Id	BXGD009277
Disease Name	Blue sclera
Disease CUI Id	C0542514
MeSH Codes	C16 C11
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Semantic Type	Finding
Human Phenotype Ontology Id	HP:0000478
Human Phenotype Ontology Term	Abnormality of the eye
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
O15550	BXGT004179	Lysine-specific demethylase 6A	7403	reviewed	Epigenetic regulator
O95255	BXGT005363	Multidrug resistance-associated protein 6	368	reviewed	Transporter
P00167	BXGT005473	Cytochrome b5	1528	reviewed	Enzyme
P00387	BXGT005525	NADH-cytochrome b5 reductase 3	1727	reviewed
P00736	BXGT005632	Complement C1r subcomponent	715	reviewed	Enzyme
P02452	BXGT005878	Collagen alpha-1(I) chain	1277	reviewed
P02461	BXGT005880	Collagen alpha-1(III) chain	1281	reviewed
P05186	BXGT006338	Alkaline phosphatase, tissue-nonspecific isozyme	249	reviewed	Enzyme
P07237	BXGT006576	Protein disulfide-isomerase	5034	reviewed
P10600	BXGT007584	Transforming growth factor beta-3 proprotein	7043	reviewed	Signaling
P22413	BXGT008764	Ectonucleotide pyrophosphatase/phosphodiesterase family member 1	5167	reviewed	Enzyme
P23284	BXGT008845	Peptidyl-prolyl cis-trans isomerase B	5479	reviewed
P32322	BXGT009624	Pyrroline-5-carboxylate reductase 1, mitochondrial	5831	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
P43235	BXGT010368	Cathepsin K	1513	reviewed	Enzyme
P61224	BXGT011370	Ras-related protein Rap-1b	5908	reviewed	Enzyme modulator
P62834	BXGT011464	Ras-related protein Rap-1A	5906	reviewed	Enzyme modulator
P98160	BXGT012228	Basement membrane-specific heparan sulfate proteoglycan core protein	3339	reviewed	Enzyme modulator
Q01974	BXGT012628	Tyrosine-protein kinase transmembrane receptor ROR2	4920	reviewed	Kinase
Q02809	BXGT012674	Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1	5351	reviewed	Enzyme
Q14332	BXGT013462	Frizzled-2	2535	reviewed	G-protein coupled receptor
Q8WVQ1	BXGT018996	Soluble calcium-activated nucleotidase 1	124583	reviewed
Q9Y6K9	BXGT022333	NF-kappa-B essential modulator	8517	reviewed	Kinase
P08123	BXGT024477	Collagen alpha-2(I) chain	1278	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}