Gene: GBA2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57704
Gene Symbol: GBA2
GBA2 		0.160 GeneticVariation disease BEFREE Mutations in the human <i>GBA2</i> gene have been associated with hereditary spastic paraplegia (HSP), autosomal-recessive cerebellar ataxia (ARCA), and the Marinesco-Sjögren-like syndrome. 30662006 2019
Entrez Id: 57704
Gene Symbol: GBA2
GBA2 		0.160 CausalMutation disease CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565 2017
Entrez Id: 57704
Gene Symbol: GBA2
GBA2 		0.160 Biomarker disease BEFREE Other genes such as GBA2 and KIF1C were almost simultaneously published as both a hereditary spastic paraplegia and an ataxia gene. 28195350 2017
Entrez Id: 57704
Gene Symbol: GBA2
GBA2 		0.160 GeneticVariation disease BEFREE GBA2 is a ubiquitous non-lysosomal glucosylceramidase whose mutations have been associated with some forms of hereditary spastic paraplegia. 26582417 2016
Entrez Id: 57704
Gene Symbol: GBA2
GBA2 		0.160 GeneticVariation disease BEFREE Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46). 26220345 2015
Entrez Id: 57704
Gene Symbol: GBA2
GBA2 		0.160 GeneticVariation disease BEFREE GBA2 mutations have recently been associated with hereditary spastic paraplegia and ARCA with spasticity. 24252062 2014
Entrez Id: 57704
Gene Symbol: GBA2
GBA2 		0.160 Biomarker disease BEFREE Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. 23332916 2013