CD247, CD247 molecule, 919

N. diseases: 140; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis
0.040 PosttranslationalModification disease BEFREE Furthermore, a higher CD3Z methylation level was significantly correlated with a higher SLE disease activity index and more severe clinical manifestations, such as proteinuria, haemolytic anaemia and thrombocytopenia, whereas VHL hypermethylation was not. 27940592 2017
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis
0.040 Biomarker disease BEFREE Genetic association of CD247 (CD3ζ) with SLE in a large-scale multiethnic study. 25569266 2015
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis
0.040 GeneticVariation disease BEFREE Aberrant CD247 transcript variants displaying either spliced exon 7 or short 3'-untranslated region have been detected in SLE T cells, and a recent genome-wide association study reported the existence of new CD247 single-nucleotide polymorphisms in SLE patients. 23525753 2013
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis
0.040 AlteredExpression disease BEFREE We have demonstrated that the expression of TCR zeta chain is significantly decreased in peripheral blood T cells from SLE patients. 15204089 2005