Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central
0.030 GeneticVariation disease BEFREE This study emphasizes the frequency of ALAS2 and SLC25A38 mutations and provides the largest comprehensive analysis to date of genotype/phenotype correlations in CSA. 31338833 2019
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central
0.030 GeneticVariation disease BEFREE Furthermore, mutations in SLC25A38 gene could be a prevalent cause of congenital sideroblastic anemia (CSA) in the Iranian population. 29499877 2018
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central
0.030 GeneticVariation disease BEFREE We tested this combination in three individuals with SLC25A38 CSA, with a primary objective to decrease red blood cell transfusion requirements. 27038157 2016