Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162429
Disease: Malnutrition
Malnutrition
0.020 Biomarker disease BEFREE Our study describes the first ever TAP2 complete knockout mouse strain and provides a possible explanation for why patients with TAP2 deficiency syndrome present clinical manifestations that would suggest a phagocyte defect rather than a lack of CD8<sup>+</sup> T cells. 27861817 2017
CUI: C0162429
Disease: Malnutrition
Malnutrition
0.020 GeneticVariation disease BEFREE A previously unreported case of transporter associated with antigen processing (TAP) deficiency syndrome (with no parental consanguinity) due to a homozygous TAP2 mutation is presented. 23662797 2014