adisease

Showing entry for Mask-like facies

General Disease Information
BXGD Id	BXGD008529
Disease Name	Mask-like facies
Disease CUI Id	C0424448
MeSH Codes	C10
Disease Class Name	Nervous System 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
F7VJQ1	BXGT003310	Alternative prion protein	5621	reviewed
O00142	BXGT003883	Thymidine kinase 2, mitochondrial	7084	reviewed	Kinase
O15550	BXGT004179	Lysine-specific demethylase 6A	7403	reviewed	Epigenetic regulator
P00326	BXGT005499	Alcohol dehydrogenase 1C	126	reviewed	Enzyme
P03886	BXGT006108	NADH-ubiquinone oxidoreductase chain 1	4535	reviewed	Enzyme
P03905	BXGT006113	NADH-ubiquinone oxidoreductase chain 4	4538	reviewed	Enzyme
P03915	BXGT006114	NADH-ubiquinone oxidoreductase chain 5	4540	reviewed	Enzyme
P03923	BXGT006115	NADH-ubiquinone oxidoreductase chain 6	4541	reviewed
P04062	BXGT006140	Lysosomal acid glucosylceramidase	2629	reviewed
P04156	BXGT006156	Major prion protein	5621	reviewed
P07101	BXGT006547	Tyrosine 3-monooxygenase	7054	reviewed
P09619	BXGT006911	Platelet-derived growth factor receptor beta	5159	reviewed	Kinase
P10636	BXGT007596	Microtubule-associated protein tau	4137	reviewed
P43354	BXGT010381	Nuclear receptor subfamily 4 group A member 2	4929	reviewed	Nuclear receptor
P48029	BXGT010606	Sodium- and chloride-dependent creatine transporter 1	6535	reviewed	Transporter
P48051	BXGT010611	G protein-activated inward rectifier potassium channel 2	3763	reviewed	Ion channel
P49448	BXGT010709	Glutamate dehydrogenase 2, mitochondrial	2747	reviewed	Enzyme
P49959	BXGT010766	Double-strand break repair protein MRE11	4361	reviewed
P54098	BXGT011030	DNA polymerase subunit gamma-1	5428	reviewed	Enzyme
P61224	BXGT011370	Ras-related protein Rap-1b	5908	reviewed	Enzyme modulator
P62834	BXGT011464	Ras-related protein Rap-1A	5906	reviewed	Enzyme modulator
P68133	BXGT011578	Actin, alpha skeletal muscle	58	reviewed	Cellular structure
P98160	BXGT012228	Basement membrane-specific heparan sulfate proteoglycan core protein	3339	reviewed	Enzyme modulator
Q06787	BXGT012890	Synaptic functional regulator FMR1	2332	reviewed	Nucleic acid binding
Q09013	BXGT013023	Myotonin-protein kinase	1760	reviewed	Kinase
Q14191	BXGT013452	Werner syndrome ATP-dependent helicase	7486	reviewed	Enzyme
Q14203	BXGT013455	Dynactin subunit 1	1639	reviewed	Chaperone
Q14643	BXGT013493	Inositol 1,4,5-trisphosphate receptor type 1	3708	reviewed	Ion channel
Q99700	BXGT019949	Ataxin-2	6311	reviewed	Nucleic acid binding
Q9BZ23	BXGT020194	Pantothenate kinase 2, mitochondrial	80025	reviewed	Kinase
Q9GZZ9	BXGT020430	Ubiquitin-like modifier-activating enzyme 5	79876	reviewed	Enzyme
Q9Y4D7	BXGT022275	Plexin-D1	23129	reviewed
P00395	BXGT023596	Cytochrome c oxidase subunit 1	4512	reviewed	Enzyme
A6NHR9	BXGT024875	Structural maintenance of chromosomes flexible hinge domain-containing protein 1	23347	reviewed
Q05086	BXGT025648	Ubiquitin-protein ligase E3A	7337	reviewed
P00403	BXGT026137	Cytochrome c oxidase subunit 2	4513	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}