adisease

Showing entry for Meckel syndrome type 1

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD019407
Disease Name	Meckel syndrome type 1
Disease CUI Id	C3714506
MeSH Codes	C23 C16 C13 C11 C12 C08 C10 C09
Disease Class Name	Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id	DOID:630 DOID:225
Disease Ontology Class Name	genetic disease; syndrome
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
O95644	BXGT005389	Nuclear factor of activated T-cells, cytoplasmic 1	4772	reviewed	Transcription factor
P05231	BXGT006345	Interleukin-6	3569	reviewed
P13236	BXGT007891	C-C motif chemokine 4	6351	reviewed
P13500	BXGT007916	C-C motif chemokine 2	6347	reviewed	Signaling
P13501	BXGT007917	C-C motif chemokine 5	6352	reviewed	Signaling
P15692	BXGT008147	Vascular endothelial growth factor A	7422	reviewed	Signaling
P21333	BXGT008638	Filamin-A	2316	reviewed
P21980	BXGT008715	Protein-glutamine gamma-glutamyltransferase 2	7052	reviewed	Enzyme
P41222	BXGT010237	Prostaglandin-H2 D-isomerase	5730	reviewed	Enzyme
P42345	BXGT010304	Serine/threonine-protein kinase mTOR	2475	reviewed	Kinase
P47895	BXGT010593	Aldehyde dehydrogenase family 1 member A3	220	reviewed	Enzyme
Q13547	BXGT013373	Histone deacetylase 1	3065	reviewed	Epigenetic regulator
Q7Z494	BXGT017254	Nephrocystin-3	27031	reviewed
Q9NRR6	BXGT021193	Phosphatidylinositol polyphosphate 5-phosphatase type IV	56623	reviewed
Q96KN7	BXGT022801	X-linked retinitis pigmentosa GTPase regulator-interacting protein 1	57096	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}