Showing entry for Erythrocytosis familial, 1


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD023379
Disease NameErythrocytosis familial, 1
Disease CUI IdC4551637
MeSH Codes C15  
Disease Class NameHemic and Lymphatic Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
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
O00459 BXGT003924 Phosphatidylinositol 3-kinase regulatory subunit beta 5296 reviewed Enzyme modulator
O60674 BXGT004892 Tyrosine-protein kinase JAK2 3717 reviewed Kinase
P19838 BXGT008526 Nuclear factor NF-kappa-B p105 subunit 4790 reviewed Transcription factor
P25942 BXGT009079 Tumor necrosis factor receptor superfamily member 5 958 reviewed
P27986 BXGT009216 Phosphatidylinositol 3-kinase regulatory subunit alpha 5295 reviewed Kinase
P30613 BXGT009447 Pyruvate kinase PKLR 5313 reviewed Kinase
P40337 BXGT010174 von Hippel-Lindau disease tumor suppressor 7428 reviewed Enzyme
P51692 BXGT010885 Signal transducer and activator of transcription 5B 6777 reviewed Nucleic acid binding
P68871 BXGT011615 Hemoglobin subunit beta 3043 reviewed
P69892 BXGT011647 Hemoglobin subunit gamma-2 3048 reviewed
Q16665 BXGT013653 Hypoxia-inducible factor 1-alpha 3091 reviewed Transcription factor
Q96KS0 BXGT019688 Egl nine homolog 2 112398 reviewed
Q99700 BXGT019949 Ataxin-2 6311 reviewed Nucleic acid binding
Q99814 BXGT019965 Endothelial PAS domain-containing protein 1 2034 reviewed Transcription factor
Q9GZT9 BXGT020425 Egl nine homolog 1 54583 reviewed
P19235 BXGT022895 Erythropoietin receptor 2057 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