Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1666
Gene Symbol: DECR1
DECR1
Peroxisome Biogenesis Disorder, Complementation Group D
0.060 Biomarker BEFREE Impaired X-CGD T cell compartment is gp91phox-NADPH oxidase independent. 29410324

2018

Entrez Id: 1666
Gene Symbol: DECR1
DECR1
Peroxisome Biogenesis Disorder, Complementation Group D
0.060 GeneticVariation BEFREE CGD is a rare (∼1:250 000 individuals) disease caused by mutations in any one of the five components of the NADPH oxidase in phagocytic leucocytes. 26983962

2016

Entrez Id: 1666
Gene Symbol: DECR1
DECR1
Peroxisome Biogenesis Disorder, Complementation Group D
0.060 Biomarker BEFREE Complementation of NADPH oxidase in p67-phox-deficient CGD patients p67-phox/p40-phox interaction. 10672014

2000

Entrez Id: 1666
Gene Symbol: DECR1
DECR1
Peroxisome Biogenesis Disorder, Complementation Group D
0.060 Biomarker BEFREE CGD is caused by defects in the phagocyte NADPH oxidase, a multiprotein enzyme that reduces oxygen to superoxide, a precursor of microbicidal oxidants. 10598813

1999

Entrez Id: 1666
Gene Symbol: DECR1
DECR1
Peroxisome Biogenesis Disorder, Complementation Group D
0.060 GeneticVariation BEFREE CGD is caused by mutations in any of 4 genes encoding components of nicotinamide adenine dinucleotide phosphate (reduced form; NADPH) oxidase, the multisubunit enzyme that produces the precursor of these oxidants, superoxide. 10498624

1999

Entrez Id: 1666
Gene Symbol: DECR1
DECR1
Peroxisome Biogenesis Disorder, Complementation Group D
0.060 Biomarker BEFREE CGD is a primary immunodeficiency disease which results from the absence of the NADPH oxidase in the phagocytic cells, leading to recurrent pyogenic infection and granuloma and abscess formation. 9250922

1997