Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | GeneticVariation | CLINVAR | Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67phox. | 25937994 | 2014 |
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|
0.800 | GeneticVariation | UNIPROT | Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. | 23910690 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). | 20167518 | 2010 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations. | 19624736 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations. | 19624736 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease. | 18625437 | 2008 |
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|
0.800 | GeneticVariation | UNIPROT | Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia. | 16937026 | 2006 |
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|
0.800 | GeneticVariation | UNIPROT | Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update). | 11112388 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox. | 10498624 | 1999 |
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|
0.800 | GeneticVariation | UNIPROT | Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase. | 10598813 | 1999 |
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|
0.800 | GeneticVariation | UNIPROT | Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient. | 9070911 | 1997 |
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|
0.800 | GeneticVariation | UNIPROT | Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: identification of mutation and detection of carriers. | 8286749 | 1994 |
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|
0.700 | GeneticVariation | UNIPROT | Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. | 23910690 | 2013 |
||||
|
0.700 | GeneticVariation | UNIPROT | Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. | 23910690 | 2013 |
||||
|
0.700 | GeneticVariation | UNIPROT | Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. | 23910690 | 2013 |
||||
|
0.700 | GeneticVariation | UNIPROT | Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. | 23910690 | 2013 |
||||
|
0.700 | GeneticVariation | UNIPROT | Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. | 23910690 | 2013 |
||||
|
0.700 | GeneticVariation | UNIPROT | Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. | 23910690 | 2013 |
||||
|
0.700 | GeneticVariation | UNIPROT | Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. | 23910690 | 2013 |
||||
|
0.700 | GeneticVariation | UNIPROT | Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. | 23910690 | 2013 |
||||
|
0.700 | GeneticVariation | UNIPROT | Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. | 23910690 | 2013 |
||||
|
0.700 | GeneticVariation | UNIPROT | Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. | 23910690 | 2013 |
||||
|
0.700 | GeneticVariation | UNIPROT | Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). | 20167518 | 2010 |
||||
|
0.700 | GeneticVariation | UNIPROT | Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). | 20167518 | 2010 |
||||
|
0.700 | GeneticVariation | UNIPROT | Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). | 20167518 | 2010 |