PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.030 GeneticVariation group BEFREE For human p47<sup>phox</sup>-deficient chronic granulomatous disease (CGD) vector testing we generated a cellular model using clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 to introduce a GT-dinucleotide deletion (ΔGT) mutation in p47<sup>phox</sup> encoding NCF1 gene in the human acute myeloid leukemia PLB-985 cell line. 28287132 2017
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.030 GeneticVariation group BEFREE The His303Asn/Pro304Arg gp91 phox transgenic PLB-985 cells exactly mimic the phenotype of the neutrophils of the X(+) CGD patient. 15338276 2004
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.030 GeneticVariation group BEFREE To prove this hypothesis, the production of tumour necrosis factor-alpha, an important proinflammatory cytokine, was determined by enzyme-linked immunosorbent assay in wild-type and chronic granulomatous disease-mutant myelomonoblastic PLB-985 cells in their immature, granulocytic and monocytic/macrophage differentiated forms. 14636244 2003