GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
0.010 GeneticVariation group BEFREE Fabry disease is an X-linked genetic disorder caused by the mutations of α-galactosidase A (GLA, MIM 300644) gene presenting with various clinical symptoms including small-fiber peripheral neuropathy and limb burning pain. 27211852 2017