adisease

Showing entry for Dysmorphic facies

General Disease Information
BXGD Id	BXGD008532
Disease Name	Dysmorphic facies
Disease CUI Id	C0424503
MeSH Codes
Disease Class Name
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
O00462	BXGT003925	Beta-mannosidase	4126	reviewed	Enzyme
O00571	BXGT003938	ATP-dependent RNA helicase DDX3X	1654	reviewed
O15553	BXGT004181	Pyrin	4210	reviewed
O43175	BXGT004575	D-3-phosphoglycerate dehydrogenase	26227	reviewed	Enzyme
O43497	BXGT004596	Voltage-dependent T-type calcium channel subunit alpha-1G	8913	reviewed	Ion channel
O95551	BXGT005384	Tyrosyl-DNA phosphodiesterase 2	51567	reviewed
P00439	BXGT005539	Phenylalanine-4-hydroxylase	5053	reviewed
P01116	BXGT005733	GTPase KRas	3845	reviewed	Enzyme modulator
P01137	BXGT005737	Transforming growth factor beta-1 proprotein	7040	reviewed	Signaling
P02708	BXGT005927	Acetylcholine receptor subunit alpha	1134	reviewed	Ion channel
P04049	BXGT006133	RAF proto-oncogene serine/threonine-protein kinase	5894	reviewed	Kinase
P06213	BXGT006425	Insulin receptor	3643	reviewed	Kinase
P07510	BXGT006631	Acetylcholine receptor subunit gamma	1146	reviewed	Ion channel
P08253	BXGT006757	72 kDa type IV collagenase	4313	reviewed	Enzyme
P08708	BXGT006817	40S ribosomal protein S17	6218	reviewed	Nucleic acid binding
P10644	BXGT007597	cAMP-dependent protein kinase type I-alpha regulatory subunit	5573	reviewed
P10747	BXGT007609	T-cell-specific surface glycoprotein CD28	940	reviewed
P11233	BXGT007678	Ras-related protein Ral-A	5898	reviewed	Enzyme modulator
P12955	BXGT007865	Xaa-Pro dipeptidase	5184	reviewed	Enzyme
P15311	BXGT008106	Ezrin	7430	reviewed	Cellular structure
P16410	BXGT008224	Cytotoxic T-lymphocyte protein 4	1493	reviewed
P20711	BXGT008594	Aromatic-L-amino-acid decarboxylase	1644	reviewed
P20930	BXGT008616	Filaggrin	2312	reviewed	Cellular structure
P21333	BXGT008638	Filamin-A	2316	reviewed
P21579	BXGT008665	Synaptotagmin-1	6857	reviewed	Transporter
P21802	BXGT008691	Fibroblast growth factor receptor 2	2263	reviewed	Kinase
P23526	BXGT008878	Adenosylhomocysteinase	191	reviewed	Enzyme
P27635	BXGT009194	60S ribosomal protein L10	6134	reviewed	Nucleic acid binding
P30153	BXGT009409	Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform	5518	reviewed	Enzyme
P30566	BXGT009446	Adenylosuccinate lyase	158	reviewed	Enzyme
P32004	BXGT009594	Neural cell adhesion molecule L1	3897	reviewed
P35052	BXGT009788	Glypican-1	2817	reviewed
P35222	BXGT009799	Catenin beta-1	1499	reviewed
P35555	BXGT009845	Fibrillin-1	2200	reviewed	Calcium-binding protein
P35579	BXGT009852	Myosin-9	4627	reviewed
P35658	BXGT009859	Nuclear pore complex protein Nup214	8021	reviewed	Nucleic acid binding
P35916	BXGT009881	Vascular endothelial growth factor receptor 3	2324	reviewed	Kinase
P36894	BXGT009939	Bone morphogenetic protein receptor type-1A	657	reviewed	Kinase
P38117	BXGT010027	Electron transfer flavoprotein subunit beta	2109	reviewed	Enzyme
P42345	BXGT010304	Serine/threonine-protein kinase mTOR	2475	reviewed	Kinase
P46100	BXGT010508	Transcriptional regulator ATRX	546	reviewed
P48029	BXGT010606	Sodium- and chloride-dependent creatine transporter 1	6535	reviewed	Transporter
P49336	BXGT010697	Cyclin-dependent kinase 8	1024	reviewed	Kinase
P49591	BXGT010715	Serine--tRNA ligase, cytoplasmic	6301	reviewed	Enzyme
P49638	BXGT010720	Alpha-tocopherol transfer protein	7274	reviewed	Transporter
P49767	BXGT010739	Vascular endothelial growth factor C	7424	reviewed	Signaling
P50135	BXGT010776	Histamine N-methyltransferase	3176	reviewed
P50281	BXGT010788	Matrix metalloproteinase-14	4323	reviewed	Enzyme
P50542	BXGT010808	Peroxisomal targeting signal 1 receptor	5830	reviewed	Transporter
P51531	BXGT010851	Probable global transcription activator SNF2L2	6595	reviewed	Epigenetic regulator
P51572	BXGT010859	B-cell receptor-associated protein 31	10134	reviewed	Transporter
P52333	BXGT010928	Tyrosine-protein kinase JAK3	3718	reviewed	Kinase
P54802	BXGT011081	Alpha-N-acetylglucosaminidase	4669	reviewed
P54886	BXGT011092	Delta-1-pyrroline-5-carboxylate synthase	5832	reviewed	Enzyme
P58400	BXGT011235	Neurexin-1-beta	9378	reviewed
P60484	BXGT011307	Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN	5728	reviewed	Enzyme
P60953	BXGT011342	Cell division control protein 42 homolog	998	reviewed	Enzyme modulator
P63000	BXGT011481	Ras-related C3 botulinum toxin substrate 1	5879	reviewed	Enzyme modulator
P78330	BXGT011833	Phosphoserine phosphatase	5723	reviewed	Enzyme
Q00604	BXGT012538	Norrin	4693	reviewed
Q01105	BXGT012569	Protein SET	6418	reviewed	Enzyme modulator
Q03164	BXGT012700	Histone-lysine N-methyltransferase 2A	4297	reviewed
Q06124	BXGT012856	Tyrosine-protein phosphatase non-receptor type 11	5781	reviewed
Q07001	BXGT012907	Acetylcholine receptor subunit delta	1144	reviewed	Ion channel
Q10469	BXGT013200	Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	4247	reviewed	Enzyme
Q11203	BXGT013218	CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase	6487	reviewed
Q12756	BXGT013261	Kinesin-like protein KIF1A	547	reviewed	Cellular structure
Q12797	BXGT013266	Aspartyl/asparaginyl beta-hydroxylase	444	reviewed
Q12879	BXGT013275	Glutamate receptor ionotropic, NMDA 2A	2903	reviewed	Ion channel
Q13002	BXGT013303	Glutamate receptor ionotropic, kainate 2	2898	reviewed	Ion channel
Q13224	BXGT013328	Glutamate receptor ionotropic, NMDA 2B	2904	reviewed	Ion channel
Q13627	BXGT013385	Dual specificity tyrosine-phosphorylation-regulated kinase 1A	1859	reviewed	Kinase
Q14003	BXGT013434	Potassium voltage-gated channel subfamily C member 3	3748	reviewed	Ion channel
Q14117	BXGT013443	Dihydropyrimidinase	1807	reviewed	Enzyme
Q14671	BXGT013496	Pumilio homolog 1	9698	reviewed	Nucleic acid binding
Q15029	BXGT013524	116 kDa U5 small nuclear ribonucleoprotein component	9343	reviewed	Enzyme
Q15907	BXGT013611	Ras-related protein Rab-11B	9230	reviewed
Q2M1P5	BXGT014129	Kinesin-like protein KIF7	374654	reviewed
Q5JPH6	BXGT015456	Probable glutamate--tRNA ligase, mitochondrial	124454	reviewed	Enzyme
Q6NVY1	BXGT016432	3-hydroxyisobutyryl-CoA hydrolase, mitochondrial	26275	reviewed	Enzyme
Q7Z3B3	BXGT017249	KAT8 regulatory NSL complex subunit 1	284058	reviewed
Q8IWQ3	BXGT018355	Serine/threonine-protein kinase BRSK2	9024	reviewed	Kinase
Q8NFD5	BXGT018560	AT-rich interactive domain-containing protein 1B	57492	reviewed
Q8WWQ0	BXGT019003	PH-interacting protein	55023	reviewed	Epigenetic regulator
Q92794	BXGT019375	Histone acetyltransferase KAT6A	7994	reviewed	Enzyme
Q92963	BXGT019401	GTP-binding protein Rit1	6016	reviewed	Enzyme modulator
Q96J02	BXGT019679	E3 ubiquitin-protein ligase Itchy homolog	83737	reviewed	Enzyme
Q96SW2	BXGT019743	Protein cereblon	51185	reviewed	Enzyme
Q9BXJ9	BXGT020170	N-alpha-acetyltransferase 15, NatA auxiliary subunit	80155	reviewed	Enzyme
Q9BY41	BXGT020180	Histone deacetylase 8	55869	reviewed	Epigenetic regulator
Q9H4W6	BXGT020478	Transcription factor COE3	253738	reviewed
Q9H6P5	BXGT020483	Threonine aspartase 1	55617	reviewed	Enzyme
Q9H8P0	BXGT020497	Polyprenol reductase	79644	reviewed
Q9H9B1	BXGT020501	Histone-lysine N-methyltransferase EHMT1	79813	reviewed	Epigenetic regulator
Q9NPC2	BXGT021150	Potassium channel subfamily K member 9	51305	reviewed	Ion channel
Q9NX14	BXGT021242	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial	54539	reviewed	Enzyme
Q9NYG8	BXGT021257	Potassium channel subfamily K member 4	50801	reviewed	Ion channel
Q9UBV7	BXGT021665	Beta-1,4-galactosyltransferase 7	11285	reviewed
Q9UGL1	BXGT021685	Lysine-specific demethylase 5B	10765	reviewed	Epigenetic regulator
Q9UGM6	BXGT021687	Tryptophan--tRNA ligase, mitochondrial	10352	reviewed
Q9UKE5	BXGT021741	TRAF2 and NCK-interacting protein kinase	23043	reviewed	Kinase
Q9UKM7	BXGT021747	Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase	11253	reviewed	Chaperone
Q9Y263	BXGT022220	Phospholipase A-2-activating protein	9373	reviewed	Enzyme modulator
Q9Y2H9	BXGT022234	Microtubule-associated serine/threonine-protein kinase 1	22983	reviewed	Kinase
Q16134	BXGT022664	Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial	2110	reviewed	Enzyme
Q96C86	BXGT022803	m7GpppX diphosphatase	28960	reviewed	Enzyme
Q8IYW5	BXGT023493	E3 ubiquitin-protein ligase RNF168	165918	reviewed
Q9H0W8	BXGT024746	Protein SMG9	56006	reviewed
Q8NEZ4	BXGT024850	Histone-lysine N-methyltransferase 2C	58508	reviewed
Q9UNE7	BXGT025000	E3 ubiquitin-protein ligase CHIP	10273	reviewed
P51608	BXGT025073	Methyl-CpG-binding protein 2	4204	reviewed	Epigenetic regulator
P49366	BXGT025175	Deoxyhypusine synthase	1725	reviewed
Q9BYC5	BXGT025656	Alpha-(1,6)-fucosyltransferase	2530	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}