adisease

Showing entry for Lafora Disease

General Disease Information
BXGD Id	BXGD010592
Disease Name	Lafora Disease
Disease CUI Id	C0751783
MeSH Codes	C16 C10
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id	DOID:630 DOID:7
Disease Ontology Class Name	genetic disease; disease of anatomical entity
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
O00429	BXGT003919	Dynamin-1-like protein	10059	reviewed	Enzyme modulator
O14773	BXGT004096	Tripeptidyl-peptidase 1	1200	reviewed	Enzyme
O60260	BXGT004864	E3 ubiquitin-protein ligase parkin	5071	reviewed	Enzyme
O95278	BXGT005370	Laforin	7957	reviewed
P01034	BXGT005721	Cystatin-C	1471	reviewed
P01116	BXGT005733	GTPase KRas	3845	reviewed	Enzyme modulator
P01138	BXGT005738	Beta-nerve growth factor	4803	reviewed	Signaling
P02649	BXGT005909	Apolipoprotein E	348	reviewed
P02766	BXGT005953	Transthyretin	7276	reviewed	Transporter
P04062	BXGT006140	Lysosomal acid glucosylceramidase	2629	reviewed
P04746	BXGT006256	Pancreatic alpha-amylase	279	reviewed
P06276	BXGT006430	Cholinesterase	590	reviewed
P07339	BXGT006604	Cathepsin D	1509	reviewed	Enzyme
P10275	BXGT007552	Androgen receptor	367	reviewed	Nuclear receptor
P10635	BXGT007595	Cytochrome P450 2D6	1565	reviewed
P10636	BXGT007596	Microtubule-associated protein tau	4137	reviewed
P11021	BXGT007644	Endoplasmic reticulum chaperone BiP	3309	reviewed
P14616	BXGT008026	Insulin receptor-related protein	3645	reviewed	Kinase
P14625	BXGT008029	Endoplasmin	7184	reviewed	Chaperone
P15104	BXGT008081	Glutamine synthetase	2752	reviewed	Enzyme
P15924	BXGT008171	Desmoplakin	1832	reviewed	Cellular structure
P20472	BXGT008578	Parvalbumin alpha	5816	reviewed	Calcium-binding protein
P22303	BXGT008751	Acetylcholinesterase	43	reviewed	Enzyme
P22607	BXGT008784	Fibroblast growth factor receptor 3	2261	reviewed	Kinase
P23560	BXGT008883	Brain-derived neurotrophic factor	627	reviewed	Signaling
P24666	BXGT008986	Low molecular weight phosphotyrosine protein phosphatase	52	reviewed
P25098	BXGT009015	Beta-adrenergic receptor kinase 1	156	reviewed	Kinase
P34932	BXGT009772	Heat shock 70 kDa protein 4	3308	reviewed
P34947	BXGT009774	G protein-coupled receptor kinase 5	2869	reviewed	Kinase
P35498	BXGT009838	Sodium channel protein type 1 subunit alpha	6323	reviewed	Ion channel
P36222	BXGT009914	Chitinase-3-like protein 1	1116	reviewed
P37840	BXGT010015	Alpha-synuclein	6622	reviewed	Transporter
P42575	BXGT010318	Caspase-2	835	reviewed	Enzyme
P43004	BXGT010348	Excitatory amino acid transporter 2	6506	reviewed	Transporter
P46939	BXGT010555	Utrophin	7402	reviewed
P46976	BXGT010558	Glycogenin-1	2992	reviewed	Enzyme
P55072	BXGT011103	Transitional endoplasmic reticulum ATPase	7415	reviewed
P60484	BXGT011307	Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN	5728	reviewed	Enzyme
Q00613	BXGT012540	Heat shock factor protein 1	3297	reviewed	Transcription factor
Q13148	BXGT013318	TAR DNA-binding protein 43	23435	reviewed
Q13501	BXGT013365	Sequestosome-1	8878	reviewed
Q5S007	BXGT015650	Leucine-rich repeat serine/threonine-protein kinase 2	120892	reviewed	Kinase
Q99574	BXGT019936	Neuroserpin	5274	reviewed	Enzyme modulator
Q9H2X6	BXGT020458	Homeodomain-interacting protein kinase 2	28996	reviewed	Kinase
Q9H492	BXGT020472	Microtubule-associated proteins 1A/1B light chain 3A	84557	reviewed	Cellular structure
Q9UIK4	BXGT021720	Death-associated protein kinase 2	23604	reviewed	Kinase
P41271	BXGT022908	Neuroblastoma suppressor of tumorigenicity 1	4681	reviewed
O43583	BXGT024866	Density-regulated protein	8562	reviewed	Enzyme
P51608	BXGT025073	Methyl-CpG-binding protein 2	4204	reviewed	Epigenetic regulator

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}