GBA2, glucosylceramidase beta 2, 57704

N. diseases: 79; N. variants: 7
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease CLINVAR Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia. 30308956 2018
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease UNIPROT Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia. 30308956 2018
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease GENOMICS_ENGLAND GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies. 28052128 2017
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease CLINVAR These results suggest that SPG46 patients have a severe deficit in GBA2 activity, because the GBA2 mutants are intrinsically inactive and/or reduced in amount. 26220345 2015
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 CausalMutation disease CLINVAR These results suggest that SPG46 patients have a severe deficit in GBA2 activity, because the GBA2 mutants are intrinsically inactive and/or reduced in amount. 26220345 2015
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease UNIPROT These results suggest that SPG46 patients have a severe deficit in GBA2 activity, because the GBA2 mutants are intrinsically inactive and/or reduced in amount. 26220345 2015
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease BEFREE GBA2-deficient mice present with male infertility, but humans carrying mutations in the GBA2 gene are affected with a combination of cerebellar ataxia and spastic paraplegia, as well as with thin corpus callosum and cognitive impairment (SPastic Gait locus #46, SPG46). 26220345 2015
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease GENOMICS_ENGLAND A novel GBA2 gene missense mutation in spastic ataxia. 24252062 2014
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease UNIPROT A novel GBA2 gene missense mutation in spastic ataxia. 24252062 2014
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease CLINVAR A novel GBA2 gene missense mutation in spastic ataxia. 24252062 2014
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease GENOMICS_ENGLAND Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. 23332916 2013
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease CLINVAR Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. 23332916 2013
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease UNIPROT Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. 23332916 2013
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 CausalMutation disease CLINVAR Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. 23332917 2013
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease GENOMICS_ENGLAND Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. 23332916 2013
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease UNIPROT Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. 23332917 2013
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease GENOMICS_ENGLAND Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. 23332916 2013
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 GermlineCausalMutation disease ORPHANET Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. 23332916 2013
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease CLINVAR Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. 23332917 2013
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease CTD_human