GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Parkinsonian Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs421016
rs421016
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0242422
Disease:
Parkinsonian Disorders 		0.730 GeneticVariation BEFREE α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism. 29310663 2018
dbSNP: rs421016
rs421016
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0242422
Disease:
Parkinsonian Disorders 		0.730 GeneticVariation BEFREE Six GD3 patients, all homoallelic for L444P GBA1 mutations, have lived beyond 40years of age; and none has developed Parkinsonism. 27789132 2018
dbSNP: rs421016
rs421016
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0242422
Disease:
Parkinsonian Disorders 		0.730 GeneticVariation BEFREE Our findings in a representative series of index cases from families with ADPD emphasize the important contribution of LRRK2 G2019S and GBA (L444P and N370S) mutations to parkinsonism in Brazilian families. 27777137 2016
dbSNP: rs421016
rs421016
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0242422
Disease:
Parkinsonian Disorders 		G 0.730 SusceptibilityMutation CLINVAR
dbSNP: rs2230288
rs2230288
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0242422
Disease:
Parkinsonian Disorders 		T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1289324472
rs1289324472
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0242422
Disease:
Parkinsonian Disorders 		0.020 GeneticVariation BEFREE Our findings in a representative series of index cases from families with ADPD emphasize the important contribution of LRRK2 G2019S and GBA (L444P and N370S) mutations to parkinsonism in Brazilian families. 27777137 2016
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0242422
Disease:
Parkinsonian Disorders 		0.020 GeneticVariation BEFREE Our findings in a representative series of index cases from families with ADPD emphasize the important contribution of LRRK2 G2019S and GBA (L444P and N370S) mutations to parkinsonism in Brazilian families. 27777137 2016
dbSNP: rs1289324472
rs1289324472
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0242422
Disease:
Parkinsonian Disorders 		0.020 GeneticVariation BEFREE GBA1 heterozygotes with non-N370S</span> mutations associated with Gaucher disease have an increased risk of parkinsonism compared to those with N370S mutations. 22968580 2013
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0242422
Disease:
Parkinsonian Disorders 		0.020 GeneticVariation BEFREE GBA1 heterozygotes with non-N370S</span> mutations associated with Gaucher disease have an increased risk of parkinsonism compared to those with N370S mutations. 22968580 2013