Showing entry for Severe congenital neutropenia


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD015302
Disease NameSevere congenital neutropenia
Disease CUI IdC1853118
MeSH Codes C16   C15  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
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
O43826 BXGT004629 Glucose-6-phosphate exchanger SLC37A4 2542 reviewed Transporter
P01583 BXGT005771 Interleukin-1 alpha 3552 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P02788 BXGT005963 Lactotransferrin 4057 reviewed Enzyme
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P06702 BXGT006476 Protein S100-A9 6280 reviewed Calcium-binding protein
P07333 BXGT006602 Macrophage colony-stimulating factor 1 receptor 1436 reviewed Kinase
P08246 BXGT006756 Neutrophil elastase 1991 reviewed Enzyme
P08700 BXGT006816 Interleukin-3 3562 reviewed
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P10721 BXGT007605 Mast/stem cell growth factor receptor Kit 3815 reviewed Kinase
P15153 BXGT008090 Ras-related C3 botulinum toxin substrate 2 5880 reviewed Enzyme modulator
P17676 BXGT008327 CCAAT/enhancer-binding protein beta 1051 reviewed Transcription factor
P25025 BXGT009006 C-X-C chemokine receptor type 2 3579 reviewed G-protein coupled receptor
P29350 BXGT009335 Tyrosine-protein phosphatase non-receptor type 6 5777 reviewed
P29965 BXGT009388 CD40 ligand 959 reviewed Signaling
P30626 BXGT009450 Sorcin 6717 reviewed
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35498 BXGT009838 Sodium channel protein type 1 subunit alpha 6323 reviewed Ion channel
P39019 BXGT010082 40S ribosomal protein S19 6223 reviewed Nucleic acid binding
P43490 BXGT010395 Nicotinamide phosphoribosyltransferase 10135 reviewed Signaling
P49913 BXGT010761 Cathelicidin antimicrobial peptide 820 reviewed
P51692 BXGT010885 Signal transducer and activator of transcription 5B 6777 reviewed Nucleic acid binding
P52565 BXGT010933 Rho GDP-dissociation inhibitor 1 396 reviewed Enzyme modulator
P80188 BXGT011882 Neutrophil gelatinase-associated lipocalin 3934 reviewed Enzyme
Q01196 BXGT012575 Runt-related transcription factor 1 861 reviewed Transcription factor
Q06124 BXGT012856 Tyrosine-protein phosphatase non-receptor type 11 5781 reviewed
Q16698 BXGT013659 2,4-dienoyl-CoA reductase, mitochondrial 1666 reviewed Enzyme
Q92794 BXGT019375 Histone acetyltransferase KAT6A 7994 reviewed Enzyme
Q9UJU2 BXGT021730 Lymphoid enhancer-binding factor 1 51176 reviewed
Q9UJV9 BXGT021731 Probable ATP-dependent RNA helicase DDX41 51428 reviewed
Q9Y3B4 BXGT022255 Splicing factor 3B subunit 6 51639 reviewed
P16615 BXGT023653 Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 488 reviewed Transporter
P20138 BXGT023857 Myeloid cell surface antigen CD33 945 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