| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.170 | GeneticVariation | disease | BEFREE | We may conclude that certain mutations in SLC37A4 influence the risk for severe neutropenia occurrence but also affect the capacity to increase ANC during SBI. | 31536830 | 2020 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | In conclusion, we show that the neutropenia in patients with G6PC3 or G6PT mutations is a metabolite-repair deficiency, caused by a failure to eliminate the nonclassical metabolite 1,5AG6P. | 30626647 | 2019 | ||||
|
0.170 | Biomarker | disease | BEFREE | Glycogen storage disease type Ib (GSD-Ib) is an autosomal-recessive syndrome characterized by neutropenia and impaired glucose homeostasis resulting from a deficiency in the glucose-6-phosphate (G6P) transporter (G6PT). | 24565827 | 2014 | ||||
|
0.170 | Biomarker | disease | BEFREE | Recent studies indicated that activation of apoptosis and increased reactive oxygen species are implicated in the pathogenesis of neutropenia in GSD1b. | 19066956 | 2009 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | We analysed the presence of a correlation among both the clinical features associated with GSD1b (neutropenia, frequency of admission to the hospital for severe infections) and the presence of systemic complications (liver adenomas, nephropathy, bone mineral density defect, polycystic ovaries, short stature, inflammatory bowel disease) and the mutations detected in each patient. | 15906092 | 2005 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | Homozygosity for the truncating G6PT1 mutation p.L348fsX400 can be observed with and without neutropenia, indicating that one or more modifiers of the action of G6PT1 exist. | 16435186 | 2005 | ||||
|
0.170 | Biomarker | disease | BEFREE | Patients with glycogen storage disease type 1b (GSD1b) not only show hepatomegaly, hypoglycaemia and lactic acidosis, but also neutropenia and neutrophil dysfunction. | 14872340 | 2004 | ||||
|
0.170 | Biomarker | disease | HPO |