adisease

Showing entry for Macroglossia

General Disease Information
BXGD Id	BXGD001770
Disease Name	Macroglossia
Disease CUI Id	C0024421
MeSH Codes	C07
Disease Class Name	Stomatognathic Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id	HP:0000152 HP:0003011
Human Phenotype Ontology Term	Abnormality of head or neck; 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
A4D126	BXGT001208	D-ribitol-5-phosphate cytidylyltransferase	729920	reviewed
O00443	BXGT003920	Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha	5286	reviewed	Kinase
O00754	BXGT003944	Lysosomal alpha-mannosidase	4125	reviewed
O43597	BXGT004602	Protein sprouty homolog 2	10253	reviewed	Signaling
O60706	BXGT004896	ATP-binding cassette sub-family C member 9	10060	reviewed	Transporter
P01112	BXGT005732	GTPase HRas	3265	reviewed	Enzyme modulator
P04066	BXGT006142	Tissue alpha-L-fucosidase	2517	reviewed
P07202	BXGT006565	Thyroid peroxidase	7173	reviewed	Enzyme
P07686	BXGT006657	Beta-hexosaminidase subunit beta	3074	reviewed	Enzyme
P10253	BXGT007550	Lysosomal alpha-glucosidase	2548	reviewed	Enzyme
P10827	BXGT007623	Thyroid hormone receptor alpha	7067	reviewed	Nuclear receptor
P10828	BXGT007624	Thyroid hormone receptor beta	7068	reviewed	Nuclear receptor
P15848	BXGT008162	Arylsulfatase B	411	reviewed
P16473	BXGT008234	Thyrotropin receptor	7253	reviewed	G-protein coupled receptor
P20933	BXGT008618	N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase	175	reviewed	Enzyme
P21589	BXGT008669	5'-nucleotidase	4907	reviewed	Enzyme
P22304	BXGT008752	Iduronate 2-sulfatase	3423	reviewed
P31749	BXGT009574	RAC-alpha serine/threonine-protein kinase	207	reviewed	Kinase
P35475	BXGT009837	Alpha-L-iduronidase	3425	reviewed	Enzyme
P42336	BXGT010302	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	5290	reviewed	Kinase
P46100	BXGT010508	Transcriptional regulator ATRX	546	reviewed
P51532	BXGT010852	Transcription activator BRG1	6597	reviewed	Epigenetic regulator
P51787	BXGT010889	Potassium voltage-gated channel subfamily KQT member 1	3784	reviewed	Ion channel
P52952	BXGT010966	Homeobox protein Nkx-2.5	1482	reviewed	Transcription factor
P53634	BXGT011007	Dipeptidyl peptidase 1	1075	reviewed	Enzyme
P53667	BXGT011008	LIM domain kinase 1	3984	reviewed	Kinase
P60484	BXGT011307	Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN	5728	reviewed	Enzyme
P60709	BXGT011322	Actin, cytoplasmic 1	60	reviewed	Cellular structure
Q01974	BXGT012628	Tyrosine-protein kinase transmembrane receptor ROR2	4920	reviewed	Kinase
Q02750	BXGT012662	Dual specificity mitogen-activated protein kinase kinase 1	5604	reviewed	Kinase
Q06710	BXGT012887	Paired box protein Pax-8	7849	reviewed
Q8WZA1	BXGT019024	Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1	55624	reviewed
Q96AX1	BXGT019620	Vacuolar protein sorting-associated protein 33A	65082	reviewed	Transporter
Q96EQ8	BXGT019652	E3 ubiquitin-protein ligase RNF125	54941	reviewed
Q9C0B1	BXGT020209	Alpha-ketoglutarate-dependent dioxygenase FTO	79068	reviewed
Q9H9B1	BXGT020501	Histone-lysine N-methyltransferase EHMT1	79813	reviewed	Epigenetic regulator
Q9NRR6	BXGT021193	Phosphatidylinositol polyphosphate 5-phosphatase type IV	56623	reviewed
Q9UBC3	BXGT021650	DNA (cytosine-5)-methyltransferase 3B	1789	reviewed
Q92911	BXGT022650	Sodium/iodide cotransporter	6528	reviewed	Transporter
Q9H9S5	BXGT024623	Fukutin-related protein	79147	reviewed
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}