adisease

Showing entry for Telecanthus

General Disease Information
BXGD Id	BXGD008473
Disease Name	Telecanthus
Disease CUI Id	C0423113
MeSH Codes	C16 C05
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Semantic Type	Finding
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
A0A024RAV5	BXGT000013	V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b	3845	unreviewed
O00459	BXGT003924	Phosphatidylinositol 3-kinase regulatory subunit beta	5296	reviewed	Enzyme modulator
O15054	BXGT004121	Lysine-specific demethylase 6B	23135	reviewed	Epigenetic regulator
O15146	BXGT004131	Muscle, skeletal receptor tyrosine-protein kinase	4593	reviewed	Kinase
O43318	BXGT004586	Mitogen-activated protein kinase kinase kinase 7	6885	reviewed	Kinase
O75030	BXGT005096	Microphthalmia-associated transcription factor	4286	reviewed
O75369	BXGT005119	Filamin-B	2317	reviewed
O75844	BXGT005156	CAAX prenyl protease 1 homolog	10269	reviewed	Enzyme
P01111	BXGT005731	GTPase NRas	4893	reviewed	Enzyme modulator
P01112	BXGT005732	GTPase HRas	3265	reviewed	Enzyme modulator
P01116	BXGT005733	GTPase KRas	3845	reviewed	Enzyme modulator
P02461	BXGT005880	Collagen alpha-1(III) chain	1281	reviewed
P02545	BXGT005889	Prelamin-A/C	4000	reviewed
P04049	BXGT006133	RAF proto-oncogene serine/threonine-protein kinase	5894	reviewed	Kinase
P04066	BXGT006142	Tissue alpha-L-fucosidase	2517	reviewed
P07510	BXGT006631	Acetylcholine receptor subunit gamma	1146	reviewed	Ion channel
P10412	BXGT007566	Histone H1.4	3008	reviewed	Nucleic acid binding
P11362	BXGT007693	Fibroblast growth factor receptor 1	2260	reviewed	Kinase
P13224	BXGT007890	Platelet glycoprotein Ib beta chain	2812	reviewed
P21333	BXGT008638	Filamin-A	2316	reviewed
P21583	BXGT008667	Kit ligand	4254	reviewed
P21802	BXGT008691	Fibroblast growth factor receptor 2	2263	reviewed	Kinase
P21964	BXGT008714	Catechol O-methyltransferase	1312	reviewed	Enzyme
P22607	BXGT008784	Fibroblast growth factor receptor 3	2261	reviewed	Kinase
P24530	BXGT008975	Endothelin receptor type B	1910	reviewed	G-protein coupled receptor
P27986	BXGT009216	Phosphatidylinositol 3-kinase regulatory subunit alpha	5295	reviewed	Kinase
P29033	BXGT009308	Gap junction beta-2 protein	2706	reviewed	Cell-cell junction
P30279	BXGT009415	G1/S-specific cyclin-D2	894	reviewed	Enzyme modulator
P35555	BXGT009845	Fibrillin-1	2200	reviewed	Calcium-binding protein
P36507	BXGT009923	Dual specificity mitogen-activated protein kinase kinase 2	5605	reviewed	Kinase
P38117	BXGT010027	Electron transfer flavoprotein subunit beta	2109	reviewed	Enzyme
P46100	BXGT010508	Transcriptional regulator ATRX	546	reviewed
P48740	BXGT010659	Mannan-binding lectin serine protease 1	5648	reviewed	Enzyme
P49917	BXGT010765	DNA ligase 4	3981	reviewed
P51812	BXGT010893	Ribosomal protein S6 kinase alpha-3	6197	reviewed	Kinase
P58400	BXGT011235	Neurexin-1-beta	9378	reviewed
P60709	BXGT011322	Actin, cytoplasmic 1	60	reviewed	Cellular structure
P63261	BXGT011512	Actin, cytoplasmic 2	71	reviewed	Cellular structure
Q03164	BXGT012700	Histone-lysine N-methyltransferase 2A	4297	reviewed
Q03431	BXGT012714	Parathyroid hormone/parathyroid hormone-related peptide receptor	5745	reviewed	G-protein coupled receptor
Q04721	BXGT012777	Neurogenic locus notch homolog protein 2	4853	reviewed
Q12830	BXGT013268	Nucleosome-remodeling factor subunit BPTF	2186	reviewed
Q13426	BXGT013353	DNA repair protein XRCC4	7518	reviewed
Q14683	BXGT013500	Structural maintenance of chromosomes protein 1A	8243	reviewed
Q15029	BXGT013524	116 kDa U5 small nuclear ribonucleoprotein component	9343	reviewed	Enzyme
Q15125	BXGT013543	3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase	10682	reviewed	Enzyme
Q15131	BXGT013545	Cyclin-dependent kinase 10	8558	reviewed	Kinase
Q15652	BXGT013587	Probable JmjC domain-containing histone demethylation protein 2C	221037	reviewed
Q86UE8	BXGT017612	Serine/threonine-protein kinase tousled-like 2	11011	reviewed	Kinase
Q96AX1	BXGT019620	Vacuolar protein sorting-associated protein 33A	65082	reviewed	Transporter
Q96EQ8	BXGT019652	E3 ubiquitin-protein ligase RNF125	54941	reviewed
Q96PY6	BXGT019712	Serine/threonine-protein kinase Nek1	4750	reviewed	Kinase
Q9BWP8	BXGT020153	Collectin-11	78989	reviewed	Surfactant
Q9BY41	BXGT020180	Histone deacetylase 8	55869	reviewed	Epigenetic regulator
Q9GZZ9	BXGT020430	Ubiquitin-like modifier-activating enzyme 5	79876	reviewed	Enzyme
Q9UBV7	BXGT021665	Beta-1,4-galactosyltransferase 7	11285	reviewed
Q9UMX1	BXGT021778	Suppressor of fused homolog	51684	reviewed
Q9Y243	BXGT022214	RAC-gamma serine/threonine-protein kinase	10000	reviewed	Kinase
Q16134	BXGT022664	Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial	2110	reviewed	Enzyme
Q13635	BXGT024910	Protein patched homolog 1	5727	reviewed
Q96MF2	BXGT025769	SH3 and cysteine-rich domain-containing protein 3	246329	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}