adisease

Showing entry for Pachygyria

General Disease Information
BXGD Id	BXGD005680
Disease Name	Pachygyria
Disease CUI Id	C0266483
MeSH Codes	C16 C10
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Semantic Type	Congenital Abnormality
Human Phenotype Ontology Id	HP:0000707
Human Phenotype Ontology Term	Abnormality of the nervous system
Disease Ontology Id	DOID:630 DOID:7 DOID:225 DOID:150 DOID:0080015
Disease Ontology Class Name	genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder
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
A4D126	BXGT001208	D-ribitol-5-phosphate cytidylyltransferase	729920	reviewed
O00139	BXGT003881	Kinesin-like protein KIF2A	3796	reviewed	Cellular structure
O00459	BXGT003924	Phosphatidylinositol 3-kinase regulatory subunit beta	5296	reviewed	Enzyme modulator
O14578	BXGT004072	Citron Rho-interacting kinase	11113	reviewed	Kinase
O14936	BXGT004114	Peripheral plasma membrane protein CASK	8573	reviewed	Kinase
O43175	BXGT004575	D-3-phosphoglycerate dehydrogenase	26227	reviewed	Enzyme
O76039	BXGT005171	Cyclin-dependent kinase-like 5	6792	reviewed	Kinase
P02462	BXGT005881	Collagen alpha-1(IV) chain	1282	reviewed
P23258	BXGT008843	Tubulin gamma-1 chain	7283	reviewed	Cellular structure
P36969	BXGT009949	Phospholipid hydroperoxide glutathione peroxidase	2879	reviewed	Enzyme
P38117	BXGT010027	Electron transfer flavoprotein subunit beta	2109	reviewed	Enzyme
P57059	BXGT011210	Serine/threonine-protein kinase SIK1	150094	reviewed
P60709	BXGT011322	Actin, cytoplasmic 1	60	reviewed	Cellular structure
P63261	BXGT011512	Actin, cytoplasmic 2	71	reviewed	Cellular structure
P98155	BXGT012226	Very low-density lipoprotein receptor	7436	reviewed
Q00534	BXGT012533	Cyclin-dependent kinase 6	1021	reviewed	Kinase
Q09470	BXGT013037	Potassium voltage-gated channel subfamily A member 1	3736	reviewed	Ion channel
Q13535	BXGT013370	Serine/threonine-protein kinase ATR	545	reviewed	Kinase
Q13885	BXGT013400	Tubulin beta-2A chain	7280	reviewed	Cellular structure
Q14118	BXGT013444	Dystroglycan	1605	reviewed	Receptor
Q14204	BXGT013456	Cytoplasmic dynein 1 heavy chain 1	1778	reviewed	Enzyme
Q15392	BXGT013566	Delta(24)-sterol reductase	1718	reviewed	Enzyme
Q71U36	BXGT016705	Tubulin alpha-1A chain	7846	reviewed	Cellular structure
Q8NEM0	BXGT018555	Microcephalin	79648	reviewed	Nucleic acid binding
Q8NG31	BXGT018565	Kinetochore scaffold 1	57082	reviewed
Q8WZA1	BXGT019024	Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1	55624	reviewed
Q96BZ9	BXGT019629	TBC1 domain family member 20	128637	reviewed
Q96C36	BXGT019631	Pyrroline-5-carboxylate reductase 2	29920	reviewed
Q96S44	BXGT019738	EKC/KEOPS complex subunit TP53RK	112858	reviewed	Kinase
Q96T60	BXGT019745	Bifunctional polynucleotide phosphatase/kinase	11284	reviewed
Q99250	BXGT019913	Sodium channel protein type 2 subunit alpha	6326	reviewed	Ion channel
Q9BVA1	BXGT020142	Tubulin beta-2B chain	347733	reviewed
Q9NP72	BXGT021144	Ras-related protein Rab-18	22931	reviewed
Q9UPN3	BXGT021797	Microtubule-actin cross-linking factor 1, isoforms 1/2/3/5	23499	reviewed	Cellular structure
Q9Y617	BXGT022314	Phosphoserine aminotransferase	29968	reviewed
Q16134	BXGT022664	Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial	2110	reviewed	Enzyme
Q01543	BXGT023137	Friend leukemia integration 1 transcription factor	2313	reviewed	Transcription factor
Q14657	BXGT024111	EKC/KEOPS complex subunit LAGE3	8270	reviewed
Q9NPF4	BXGT024113	Probable tRNA N6-adenosine threonylcarbamoyltransferase	55644	reviewed	Enzyme
Q9H9S5	BXGT024623	Fukutin-related protein	79147	reviewed
Q6UVJ0	BXGT026024	Spindle assembly abnormal protein 6 homolog	163786	reviewed
P09471	BXGT026153	Guanine nucleotide-binding protein G(o) subunit alpha	2775	reviewed	Enzyme modulator

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}