Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0948201
Disease: Alloimmunisation
Alloimmunisation
0.030 Biomarker disease BEFREE Recipient treatment with MR1 CD40L-blocking antibody or CD4-depleting antibody prevented KEL alloimmunisation altogether. 30418129 2019
CUI: C0948201
Disease: Alloimmunisation
Alloimmunisation
0.030 Biomarker disease BEFREE Type 1 IFN signaling critically regulates influenza-induced alloimmunization to transfused KEL RBCs in a murine model. 31403208 2019
CUI: C0948201
Disease: Alloimmunisation
Alloimmunisation
0.030 Biomarker disease BEFREE The Pneumovax23 vaccine decreased the magnitude of anti-KEL alloimmunization in a murine model, whereas the hepB vaccine did not impact the response; RBC transfusion did not alter immune responses to either vaccine. 28597520 2017
CUI: C0021400
Disease: Influenza
Influenza
0.010 Biomarker disease BEFREE Wild-type mice or mice lacking the ability to respond to Type 1 IFN were infected with influenza prior to the transfusion of transgenic murine RBCs (K1) expressing the human KEL glycoprotein or the triple fusion HOD protein. 31403208 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation disease BEFREE Missense nucleotide changes in KEL account for the numerous Kell antigens, the K(mod) phenotype, and even the K(null) phenotype. 23581548 2013
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic
0.010 GeneticVariation disease BEFREE The mammalian neprilysin (NEP) family comprises at least seven members: NEP itself, Kell blood group antigen (KELL), the endothelin-converting enzymes (ECE-1 and ECE-2), the enzyme PEX, associated with X-linked hypophosphataemia, "X-converting enzyme" (XCE) a CNS-expressed orphan peptidase and a soluble, secreted endopeptidase (SEP). 10849750 2000
CUI: C0398568
Disease: Blood group deletion syndrome
Blood group deletion syndrome
0.010 GeneticVariation disease BEFREE An individual with McLeod syndrome and the Kell blood group antigen K(K1). 6879675 1983