Showing entry for Albinism, Oculocutaneous


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD003055
Disease NameAlbinism, Oculocutaneous
Disease CUI IdC0078918
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   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630  
Disease Ontology Class Namegenetic 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
O75030 BXGT005096 Microphthalmia-associated transcription factor 4286 reviewed
P01111 BXGT005731 GTPase NRas 4893 reviewed Enzyme modulator
P04155 BXGT006155 Trefoil factor 1 7031 reviewed Signaling
P08069 BXGT006723 Insulin-like growth factor 1 receptor 3480 reviewed Kinase
P10721 BXGT007605 Mast/stem cell growth factor receptor Kit 3815 reviewed Kinase
P11308 BXGT007684 Transcriptional regulator ERG 2078 reviewed Transcription factor
P11802 BXGT007750 Cyclin-dependent kinase 4 1019 reviewed Kinase
P14679 BXGT008039 Tyrosinase 7299 reviewed Enzyme
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P16410 BXGT008224 Cytotoxic T-lymphocyte protein 4 1493 reviewed
P16455 BXGT008229 Methylated-DNA--protein-cysteine methyltransferase 4255 reviewed
P17643 BXGT008323 5,6-dihydroxyindole-2-carboxylic acid oxidase 7306 reviewed Enzyme
P24468 BXGT008969 COUP transcription factor 2 7026 reviewed Nuclear receptor
P28472 BXGT009260 Gamma-aminobutyric acid receptor subunit beta-3 2562 reviewed Ion channel
P31644 BXGT009557 Gamma-aminobutyric acid receptor subunit alpha-5 2558 reviewed Ion channel
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P40967 BXGT010212 Melanocyte protein PMEL 6490 reviewed Signaling
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
Q01726 BXGT012610 Melanocyte-stimulating hormone receptor 4157 reviewed G-protein coupled receptor
Q96GD4 BXGT019667 Aurora kinase B 9212 reviewed Kinase
Q9NUX5 BXGT021220 Protection of telomeres protein 1 25913 reviewed Nucleic acid binding
Q9Y4K1 BXGT022281 Beta/gamma crystallin domain-containing protein 1 202 reviewed
P35670 BXGT023695 Copper-transporting ATPase 2 540 reviewed Transporter
P57729 BXGT024172 Ras-related protein Rab-38 23682 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