rs76763715, GBA

N. diseases: 27
Disease: Pulmonary Aspergillosis ×
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pulmonary Aspergillosis
CUI: C2350529
Disease: Pulmonary Aspergillosis
0.010 GeneticVariation BEFREE We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. 24195576 2014