Showing entry for Albinism, Ocular



                               
General Disease Information
BXGD IdBXGD003054
Disease NameAlbinism, Ocular
Disease CUI IdC0078917
MeSH Codes C16   C18   C11   C17  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id HP:0000478  
Human Phenotype Ontology TermAbnormality of the eye
Disease Ontology Id DOID:7  
Disease Ontology Class Namedisease 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
O14764 BXGT004094 Gamma-aminobutyric acid receptor subunit delta 2563 reviewed Ion channel
O75030 BXGT005096 Microphthalmia-associated transcription factor 4286 reviewed
P08754 BXGT006820 Guanine nucleotide-binding protein G(i) subunit alpha 2773 reviewed Enzyme modulator
P08842 BXGT006830 Steryl-sulfatase 412 reviewed Enzyme
P14679 BXGT008039 Tyrosinase 7299 reviewed Enzyme
P17643 BXGT008323 5,6-dihydroxyindole-2-carboxylic acid oxidase 7306 reviewed Enzyme
Q13303 BXGT013336 Voltage-gated potassium channel subunit beta-2 8514 reviewed Ion channel
Q13796 BXGT013395 Protein Shroom2 357 reviewed
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