adisease

Showing entry for Blepharophimosis

General Disease Information
BXGD Id	BXGD000330
Disease Name	Blepharophimosis
Disease CUI Id	C0005744
MeSH Codes	C16 C11
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Semantic Type	Congenital Abnormality
Human Phenotype Ontology Id	HP:0000152
Human Phenotype Ontology Term	Abnormality of head or neck
Disease Ontology Id	DOID:7
Disease Ontology Class Name	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
A0A024RAV5	BXGT000013	V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b	3845	unreviewed
O15146	BXGT004131	Muscle, skeletal receptor tyrosine-protein kinase	4593	reviewed	Kinase
O60706	BXGT004896	ATP-binding cassette sub-family C member 9	10060	reviewed	Transporter
O75844	BXGT005156	CAAX prenyl protease 1 homolog	10269	reviewed	Enzyme
P01116	BXGT005733	GTPase KRas	3845	reviewed	Enzyme modulator
P02545	BXGT005889	Prelamin-A/C	4000	reviewed
P02768	BXGT005955	Serum albumin	213	reviewed	Transporter
P07437	BXGT006624	Tubulin beta chain	203068	reviewed	Cellular structure
P11274	BXGT007681	Breakpoint cluster region protein	613	reviewed	Enzyme modulator
P16157	BXGT008203	Ankyrin-1	286	reviewed
P28482	BXGT009263	Mitogen-activated protein kinase 1	5594	reviewed	Kinase
P32322	BXGT009624	Pyrroline-5-carboxylate reductase 1, mitochondrial	5831	reviewed
P38398	BXGT010037	Breast cancer type 1 susceptibility protein	672	reviewed	Enzyme
P42338	BXGT010303	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform	5291	reviewed	Kinase
P48740	BXGT010659	Mannan-binding lectin serine protease 1	5648	reviewed	Enzyme
P49917	BXGT010765	DNA ligase 4	3981	reviewed
P51531	BXGT010851	Probable global transcription activator SNF2L2	6595	reviewed	Epigenetic regulator
P53667	BXGT011008	LIM domain kinase 1	3984	reviewed	Kinase
P55201	BXGT011109	Peregrin	7862	reviewed
P98160	BXGT012228	Basement membrane-specific heparan sulfate proteoglycan core protein	3339	reviewed	Enzyme modulator
Q03164	BXGT012700	Histone-lysine N-methyltransferase 2A	4297	reviewed
Q03468	BXGT012716	DNA excision repair protein ERCC-6	2074	reviewed
Q13415	BXGT013350	Origin recognition complex subunit 1	4998	reviewed	Nucleic acid binding
Q13485	BXGT013363	Mothers against decapentaplegic homolog 4	4089	reviewed	Transcription factor
Q13535	BXGT013370	Serine/threonine-protein kinase ATR	545	reviewed	Kinase
Q7Z3B3	BXGT017249	KAT8 regulatory NSL complex subunit 1	284058	reviewed
Q86UE8	BXGT017612	Serine/threonine-protein kinase tousled-like 2	11011	reviewed	Kinase
Q8IWS0	BXGT018356	PHD finger protein 6	84295	reviewed	Nucleic acid binding
Q8NFD5	BXGT018560	AT-rich interactive domain-containing protein 1B	57492	reviewed
Q99835	BXGT019969	Smoothened homolog	6608	reviewed	G-protein coupled receptor
Q9BWP8	BXGT020153	Collectin-11	78989	reviewed	Surfactant
Q9NP72	BXGT021144	Ras-related protein Rab-18	22931	reviewed
Q9UHD8	BXGT021698	Septin-9	10801	reviewed	Enzyme modulator
Q9Y6K1	BXGT022331	DNA (cytosine-5)-methyltransferase 3A	1788	reviewed
Q59FF6	BXGT023693	Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant	2074	unreviewed
P51608	BXGT025073	Methyl-CpG-binding protein 2	4204	reviewed	Epigenetic regulator
Q96MF2	BXGT025769	SH3 and cysteine-rich domain-containing protein 3	246329	reviewed
P35250	BXGT025854	Replication factor C subunit 2	5982	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}