Showing entry for Dyskeratosis Congenita



                               
General Disease Information
BXGD IdBXGD005592
Disease NameDyskeratosis Congenita
Disease CUI IdC0265965
MeSH Codes C16   C17   C15  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; 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: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
O14746 BXGT004091 Telomerase reverse transcriptase 7015 reviewed Enzyme
O14773 BXGT004096 Tripeptidyl-peptidase 1 1200 reviewed Enzyme
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P06748 BXGT006497 Nucleophosmin 4869 reviewed Chaperone
P10275 BXGT007552 Androgen receptor 367 reviewed Nuclear receptor
P39019 BXGT010082 40S ribosomal protein S19 6223 reviewed Nucleic acid binding
P41212 BXGT010235 Transcription factor ETV6 2120 reviewed Transcription factor
P69892 BXGT011647 Hemoglobin subunit gamma-2 3048 reviewed
Q01196 BXGT012575 Runt-related transcription factor 1 861 reviewed Transcription factor
Q13535 BXGT013370 Serine/threonine-protein kinase ATR 545 reviewed Kinase
Q15554 BXGT013577 Telomeric repeat-binding factor 2 7014 reviewed
Q9BQ65 BXGT020107 U6 snRNA phosphodiesterase 79650 reviewed
Q9Y3D8 BXGT022258 Adenylate kinase isoenzyme 6 102157402 reviewed
Q9Y5Y6 BXGT022308 Suppressor of tumorigenicity 14 protein 6768 reviewed Enzyme
Q6PI26 BXGT022773 Protein SHQ1 homolog 55164 reviewed
P17752 BXGT023118 Tryptophan 5-hydroxylase 1 7166 reviewed
Q13185 BXGT024241 Chromobox protein homolog 3 11335 reviewed Epigenetic regulator
P11836 BXGT025994 B-lymphocyte antigen CD20 931 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