adisease

Showing entry for Macrostomia

General Disease Information
BXGD Id	BXGD001771
Disease Name	Macrostomia
Disease CUI Id	C0024433
MeSH Codes	C16 C07
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
Semantic Type	Congenital Abnormality
Human Phenotype Ontology Id	HP:0000152
Human Phenotype Ontology Term	Abnormality of head or neck
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
O00189	BXGT003891	AP-4 complex subunit mu-1	9179	reviewed	Extracellular structure
O15054	BXGT004121	Lysine-specific demethylase 6B	23135	reviewed	Epigenetic regulator
O15297	BXGT004149	Protein phosphatase 1D	8493	reviewed	Enzyme
O15305	BXGT004152	Phosphomannomutase 2	5373	reviewed	Enzyme
O60706	BXGT004896	ATP-binding cassette sub-family C member 9	10060	reviewed	Transporter
O75899	BXGT005161	Gamma-aminobutyric acid type B receptor subunit 2	9568	reviewed	G-protein coupled receptor
O76039	BXGT005171	Cyclin-dependent kinase-like 5	6792	reviewed	Kinase
P04049	BXGT006133	RAF proto-oncogene serine/threonine-protein kinase	5894	reviewed	Kinase
P04066	BXGT006142	Tissue alpha-L-fucosidase	2517	reviewed
P06213	BXGT006425	Insulin receptor	3643	reviewed	Kinase
P15056	BXGT008075	Serine/threonine-protein kinase B-raf	673	reviewed	Kinase
P15884	BXGT008166	Transcription factor 4	6925	reviewed	Transcription factor
P16278	BXGT008213	Beta-galactosidase	2720	reviewed	Enzyme
P20933	BXGT008618	N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase	175	reviewed	Enzyme
P29033	BXGT009308	Gap junction beta-2 protein	2706	reviewed	Cell-cell junction
P30566	BXGT009446	Adenylosuccinate lyase	158	reviewed	Enzyme
P31939	BXGT009584	Bifunctional purine biosynthesis protein PURH	471	reviewed	Enzyme
P34059	BXGT009749	N-acetylgalactosamine-6-sulfatase	2588	reviewed	Enzyme
P35475	BXGT009837	Alpha-L-iduronidase	3425	reviewed	Enzyme
P35555	BXGT009845	Fibrillin-1	2200	reviewed	Calcium-binding protein
P42336	BXGT010302	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	5290	reviewed	Kinase
P42345	BXGT010304	Serine/threonine-protein kinase mTOR	2475	reviewed	Kinase
P46100	BXGT010508	Transcriptional regulator ATRX	546	reviewed
P49917	BXGT010765	DNA ligase 4	3981	reviewed
P51531	BXGT010851	Probable global transcription activator SNF2L2	6595	reviewed	Epigenetic regulator
P51532	BXGT010852	Transcription activator BRG1	6597	reviewed	Epigenetic regulator
P51812	BXGT010893	Ribosomal protein S6 kinase alpha-3	6197	reviewed	Kinase
P53667	BXGT011008	LIM domain kinase 1	3984	reviewed	Kinase
P55201	BXGT011109	Peregrin	7862	reviewed
P58400	BXGT011235	Neurexin-1-beta	9378	reviewed
P60709	BXGT011322	Actin, cytoplasmic 1	60	reviewed	Cellular structure
P60953	BXGT011342	Cell division control protein 42 homolog	998	reviewed	Enzyme modulator
P63261	BXGT011512	Actin, cytoplasmic 2	71	reviewed	Cellular structure
P78330	BXGT011833	Phosphoserine phosphatase	5723	reviewed	Enzyme
Q01105	BXGT012569	Protein SET	6418	reviewed	Enzyme modulator
Q01974	BXGT012628	Tyrosine-protein kinase transmembrane receptor ROR2	4920	reviewed	Kinase
Q02750	BXGT012662	Dual specificity mitogen-activated protein kinase kinase 1	5604	reviewed	Kinase
Q10469	BXGT013200	Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	4247	reviewed	Enzyme
Q12882	BXGT013276	Dihydropyrimidine dehydrogenase [NADP(+)]	1806	reviewed	Enzyme
Q15233	BXGT013552	Non-POU domain-containing octamer-binding protein	4841	reviewed	Nucleic acid binding
Q15842	BXGT013607	ATP-sensitive inward rectifier potassium channel 8	3764	reviewed	Ion channel
Q4G0J3	BXGT014809	La-related protein 7	51574	reviewed	Nucleic acid binding
Q7RTN6	BXGT017085	STE20-related kinase adapter protein alpha	92335	reviewed	Kinase
Q8NFD5	BXGT018560	AT-rich interactive domain-containing protein 1B	57492	reviewed
Q92796	BXGT019376	Disks large homolog 3	1741	reviewed
Q969G3	BXGT019607	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1	6605	reviewed
Q9NYG8	BXGT021257	Potassium channel subfamily K member 4	50801	reviewed	Ion channel
Q9UBM7	BXGT021657	7-dehydrocholesterol reductase	1717	reviewed	Enzyme
Q9UBN7	BXGT021658	Histone deacetylase 6	10013	reviewed	Epigenetic regulator
Q9Y2I2	BXGT022236	Netrin-G1	22854	reviewed	Enzyme modulator
Q92785	BXGT023424	Zinc finger protein ubi-d4	5977	reviewed	Enzyme
P51608	BXGT025073	Methyl-CpG-binding protein 2	4204	reviewed	Epigenetic regulator
Q05086	BXGT025648	Ubiquitin-protein ligase E3A	7337	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}