adisease

Showing entry for Brachycephaly

General Disease Information
BXGD Id	BXGD004448
Disease Name	Brachycephaly
Disease CUI Id	C0221356
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:0000152 HP:0000924
Human Phenotype Ontology Term	Abnormality of head or neck; Abnormality of the skeletal system
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
O14764	BXGT004094	Gamma-aminobutyric acid receptor subunit delta	2563	reviewed	Ion channel
O60341	BXGT004873	Lysine-specific histone demethylase 1A	23028	reviewed	Epigenetic regulator
O60566	BXGT004884	Mitotic checkpoint serine/threonine-protein kinase BUB1 beta	701	reviewed	Kinase
O94766	BXGT005330	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3	26229	reviewed	Enzyme
O95551	BXGT005384	Tyrosyl-DNA phosphodiesterase 2	51567	reviewed
P04049	BXGT006133	RAF proto-oncogene serine/threonine-protein kinase	5894	reviewed	Kinase
P04066	BXGT006142	Tissue alpha-L-fucosidase	2517	reviewed
P07437	BXGT006624	Tubulin beta chain	203068	reviewed	Cellular structure
P08253	BXGT006757	72 kDa type IV collagenase	4313	reviewed	Enzyme
P10644	BXGT007597	cAMP-dependent protein kinase type I-alpha regulatory subunit	5573	reviewed
P11362	BXGT007693	Fibroblast growth factor receptor 1	2260	reviewed	Kinase
P12643	BXGT007830	Bone morphogenetic protein 2	650	reviewed	Signaling
P15056	BXGT008075	Serine/threonine-protein kinase B-raf	673	reviewed	Kinase
P15884	BXGT008166	Transcription factor 4	6925	reviewed	Transcription factor
P16435	BXGT008226	NADPH--cytochrome P450 reductase	5447	reviewed
P19838	BXGT008526	Nuclear factor NF-kappa-B p105 subunit	4790	reviewed	Transcription factor
P20933	BXGT008618	N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase	175	reviewed	Enzyme
P21802	BXGT008691	Fibroblast growth factor receptor 2	2263	reviewed	Kinase
P22607	BXGT008784	Fibroblast growth factor receptor 3	2261	reviewed	Kinase
P30566	BXGT009446	Adenylosuccinate lyase	158	reviewed	Enzyme
P31939	BXGT009584	Bifunctional purine biosynthesis protein PURH	471	reviewed	Enzyme
P35555	BXGT009845	Fibrillin-1	2200	reviewed	Calcium-binding protein
P42263	BXGT010295	Glutamate receptor 3	2892	reviewed	Ion channel
P43235	BXGT010368	Cathepsin K	1513	reviewed	Enzyme
P46100	BXGT010508	Transcriptional regulator ATRX	546	reviewed
P49917	BXGT010765	DNA ligase 4	3981	reviewed
P50281	BXGT010788	Matrix metalloproteinase-14	4323	reviewed	Enzyme
P52788	BXGT010953	Spermine synthase	6611	reviewed
P54886	BXGT011092	Delta-1-pyrroline-5-carboxylate synthase	5832	reviewed	Enzyme
P58400	BXGT011235	Neurexin-1-beta	9378	reviewed
P60033	BXGT011286	CD81 antigen	975	reviewed
P61978	BXGT011399	Heterogeneous nuclear ribonucleoprotein K	3190	reviewed	Enzyme
Q00653	BXGT012541	Nuclear factor NF-kappa-B p100 subunit	4791	reviewed	Transcription factor
Q03164	BXGT012700	Histone-lysine N-methyltransferase 2A	4297	reviewed
Q03431	BXGT012714	Parathyroid hormone/parathyroid hormone-related peptide receptor	5745	reviewed	G-protein coupled receptor
Q05655	BXGT012832	Protein kinase C delta type	5580	reviewed	Kinase
Q06124	BXGT012856	Tyrosine-protein phosphatase non-receptor type 11	5781	reviewed
Q07889	BXGT012946	Son of sevenless homolog 1	6654	reviewed	Enzyme modulator
Q08499	BXGT012988	cAMP-specific 3',5'-cyclic phosphodiesterase 4D	5144	reviewed
Q10469	BXGT013200	Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	4247	reviewed	Enzyme
Q13303	BXGT013336	Voltage-gated potassium channel subunit beta-2	8514	reviewed	Ion channel
Q13426	BXGT013353	DNA repair protein XRCC4	7518	reviewed
Q14683	BXGT013500	Structural maintenance of chromosomes protein 1A	8243	reviewed
Q15067	BXGT013532	Peroxisomal acyl-coenzyme A oxidase 1	51	reviewed	Enzyme
Q15910	BXGT013612	Histone-lysine N-methyltransferase EZH2	2146	reviewed	Epigenetic regulator
Q6NUK1	BXGT016429	Calcium-binding mitochondrial carrier protein SCaMC-1	29957	reviewed	Transporter
Q8NFD5	BXGT018560	AT-rich interactive domain-containing protein 1B	57492	reviewed
Q96IV0	BXGT019677	Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase	55768	reviewed	Enzyme
Q96RE7	BXGT019725	Nucleus accumbens-associated protein 1	112939	reviewed
Q96RJ3	BXGT019729	Tumor necrosis factor receptor superfamily member 13C	115650	reviewed
Q9BY41	BXGT020180	Histone deacetylase 8	55869	reviewed	Epigenetic regulator
Q9H8P0	BXGT020497	Polyprenol reductase	79644	reviewed
Q9H9B1	BXGT020501	Histone-lysine N-methyltransferase EHMT1	79813	reviewed	Epigenetic regulator
Q9NP72	BXGT021144	Ras-related protein Rab-18	22931	reviewed
Q9UMX1	BXGT021778	Suppressor of fused homolog	51684	reviewed
Q9UQD0	BXGT021811	Sodium channel protein type 8 subunit alpha	6334	reviewed	Ion channel
Q13635	BXGT024910	Protein patched homolog 1	5727	reviewed
P38646	BXGT024954	Stress-70 protein, mitochondrial	3313	reviewed
P51608	BXGT025073	Methyl-CpG-binding protein 2	4204	reviewed	Epigenetic regulator
Q92832	BXGT025242	Protein kinase C-binding protein NELL1	4745	reviewed	Calcium-binding protein
Q05086	BXGT025648	Ubiquitin-protein ligase E3A	7337	reviewed
Q96MF2	BXGT025769	SH3 and cysteine-rich domain-containing protein 3	246329	reviewed
Q9UQE7	BXGT025899	Structural maintenance of chromosomes protein 3	9126	reviewed
P11836	BXGT025994	B-lymphocyte antigen CD20	931	reviewed	Receptor

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}