adisease

Showing entry for Piebaldism

General Disease Information
BXGD Id	BXGD003104
Disease Name	Piebaldism
Disease CUI Id	C0080024
MeSH Codes	C16 C18 C17
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
Semantic Type	Congenital Abnormality
Human Phenotype Ontology Id	HP:0001574
Human Phenotype Ontology Term	Abnormality of the integument
Disease Ontology Id	DOID:630
Disease Ontology Class Name	genetic disease
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
O14746	BXGT004091	Telomerase reverse transcriptase	7015	reviewed	Enzyme
O75030	BXGT005096	Microphthalmia-associated transcription factor	4286	reviewed
P00966	BXGT005707	Argininosuccinate synthase	445	reviewed	Enzyme
P07949	BXGT006703	Proto-oncogene tyrosine-protein kinase receptor Ret	5979	reviewed	Kinase
P10721	BXGT007605	Mast/stem cell growth factor receptor Kit	3815	reviewed	Kinase
P14679	BXGT008039	Tyrosinase	7299	reviewed	Enzyme
P16234	BXGT008209	Platelet-derived growth factor receptor alpha	5156	reviewed	Kinase
P16442	BXGT008227	Histo-blood group ABO system transferase	28	reviewed	Enzyme
P17643	BXGT008323	5,6-dihydroxyindole-2-carboxylic acid oxidase	7306	reviewed	Enzyme
P21583	BXGT008667	Kit ligand	4254	reviewed
P27797	BXGT009206	Calreticulin	811	reviewed	Calcium-binding protein
P30988	BXGT009491	Calcitonin receptor	799	reviewed	G-protein coupled receptor
P48029	BXGT010606	Sodium- and chloride-dependent creatine transporter 1	6535	reviewed	Transporter
P51159	BXGT010839	Ras-related protein Rab-27A	5873	reviewed
Q01726	BXGT012610	Melanocyte-stimulating hormone receptor	4157	reviewed	G-protein coupled receptor
Q12778	BXGT013263	Forkhead box protein O1	2308	reviewed
Q16236	BXGT013624	Nuclear factor erythroid 2-related factor 2	4780	reviewed	Enzyme
Q5T6L4	BXGT015848	Argininosuccinate synthase 1 isoform 1	445	unreviewed
Q9Y4I1	BXGT022278	Unconventional myosin-Va	4644	reviewed	Cellular structure
Q7Z699	BXGT025789	Sprouty-related, EVH1 domain-containing protein 1	161742	reviewed	Receptor

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}