GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Gaucher Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064651
rs1064651
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		0.760 GeneticVariation BEFREE Gaucher disease type 3c (GD3c) is a rare subtype of the subacute/chronic neuronopathic GD3, caused by homozygosity for the GBA p.Asp448His (D409H) mutation. 31130326 2019
dbSNP: rs1064651
rs1064651
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		0.760 GeneticVariation BEFREE Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele. 18429048 2008
dbSNP: rs1064651
rs1064651
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		G 0.760 CausalMutation CLINVAR Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621 2006
dbSNP: rs1064651
rs1064651
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		0.760 GeneticVariation BEFREE D409H homozygosity has, so far, been associated with a unique type III subtype of Gaucher disease that is characterized by the presence of devastating valvular heart disease, oculomotor apraxia, and, sometimes, features normally associated with mucopolysaccharidoses or oligosaccharidoses. 11814305 2003
dbSNP: rs1064651
rs1064651
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		0.760 GeneticVariation BEFREE Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation. 11359469 2001
dbSNP: rs1064651
rs1064651
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		0.760 GeneticVariation BEFREE Relating this rare phenotype of Gaucher disease to D409H mutation will facilitate management of the disease and counseling of families. 10636167 2000
dbSNP: rs1064651
rs1064651
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0017205
Disease:
Gaucher Disease 		0.760 GeneticVariation BEFREE Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. 8544197 1995