Showing entry for Hermanski-Pudlak Syndrome


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD003080
Disease NameHermanski-Pudlak Syndrome
Disease CUI IdC0079504
MeSH Codes C16   C18   C11   C17   C15  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
Semantic TypeDisease or Syndrome
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
O15439 BXGT004169 Multidrug resistance-associated protein 4 10257 reviewed Transporter
O43772 BXGT004623 Mitochondrial carnitine/acylcarnitine carrier protein 788 reviewed Transporter
P00450 BXGT005544 Ceruloplasmin 1356 reviewed Enzyme
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P04155 BXGT006155 Trefoil factor 1 7031 reviewed Signaling
P04275 BXGT006180 von Willebrand factor 7450 reviewed Enzyme modulator
P07237 BXGT006576 Protein disulfide-isomerase 5034 reviewed
P08246 BXGT006756 Neutrophil elastase 1991 reviewed Enzyme
P14679 BXGT008039 Tyrosinase 7299 reviewed Enzyme
P17643 BXGT008323 5,6-dihydroxyindole-2-carboxylic acid oxidase 7306 reviewed Enzyme
P17931 BXGT008356 Galectin-3 3958 reviewed Signaling
P25116 BXGT009025 Proteinase-activated receptor 1 2149 reviewed G-protein coupled receptor
P29016 BXGT009304 T-cell surface glycoprotein CD1b 910 reviewed
P30044 BXGT009395 Peroxiredoxin-5, mitochondrial 25824 reviewed
P36222 BXGT009914 Chitinase-3-like protein 1 1116 reviewed
P40967 BXGT010212 Melanocyte protein PMEL 6490 reviewed Signaling
P47900 BXGT010595 P2Y purinoceptor 1 5028 reviewed G-protein coupled receptor
P51151 BXGT010837 Ras-related protein Rab-9A 9367 reviewed
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
Q07889 BXGT012946 Son of sevenless homolog 1 6654 reviewed Enzyme modulator
Q13637 BXGT013388 Ras-related protein Rab-32 10981 reviewed
Q96AX1 BXGT019620 Vacuolar protein sorting-associated protein 33A 65082 reviewed Transporter
Q96L34 BXGT019689 MAP/microtubule affinity-regulating kinase 4 57787 reviewed Kinase
Q9BTU6 BXGT020127 Phosphatidylinositol 4-kinase type 2-alpha 55361 reviewed Kinase
Q9ULC6 BXGT021759 Protein-arginine deiminase type-1 29943 reviewed
Q9UPY5 BXGT021803 Cystine/glutamate transporter 23657 reviewed Transporter
Q9GZQ8 BXGT023414 Microtubule-associated proteins 1A/1B light chain 3B 81631 reviewed Cellular structure
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