For instance, while learning about Gaucher disease, which is caused by the malfunctioning of glucosylceramidase and manifests in early childhood, one can look up our portal for the enzyme glucosylceramidase, the associated gene GBA that undergoes various types of mutations like rs104886460, rs1057519020, etc. Any mutation in the GBA gene causes malfunctioning of the proteinaceous enzyme leading to its complete absence or reduced expression (28). The gene discussed is GBA1; the disease is Gaucher disease.