Showing entry for Albinism



                               
General Disease Information
BXGD IdBXGD000089
Disease NameAlbinism
Disease CUI IdC0001916
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 TypeDisease or Syndrome
Human Phenotype Ontology Id HP:0001574  
Human Phenotype Ontology TermAbnormality of the integument
Disease Ontology Id DOID:630   DOID:7  
Disease Ontology Class Namegenetic 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
O60840 BXGT004901 Voltage-dependent L-type calcium channel subunit alpha-1F 778 reviewed Ion channel
O75030 BXGT005096 Microphthalmia-associated transcription factor 4286 reviewed
P01308 BXGT005749 Insulin 3630 reviewed
P04155 BXGT006155 Trefoil factor 1 7031 reviewed Signaling
P14679 BXGT008039 Tyrosinase 7299 reviewed Enzyme
P17643 BXGT008323 5,6-dihydroxyindole-2-carboxylic acid oxidase 7306 reviewed Enzyme
P22304 BXGT008752 Iduronate 2-sulfatase 3423 reviewed
P24530 BXGT008975 Endothelin receptor type B 1910 reviewed G-protein coupled receptor
P51159 BXGT010839 Ras-related protein Rab-27A 5873 reviewed
P52594 BXGT010936 Arf-GAP domain and FG repeat-containing protein 1 3267 reviewed
Q01726 BXGT012610 Melanocyte-stimulating hormone receptor 4157 reviewed G-protein coupled receptor
Q8TDS5 BXGT018813 Oxoeicosanoid receptor 1 165140 reviewed G-protein coupled receptor
Q8TDV0 BXGT018815 Probable G-protein coupled receptor 151 134391 reviewed G-protein coupled receptor
Q9ULV1 BXGT021764 Frizzled-4 8322 reviewed G-protein coupled 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