rs80356769, GBA

N. diseases: 8
Disease: Gaucher Disease, Type 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
0.800 GeneticVariation UNIPROT Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution. 1974409 1990
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
0.800 GeneticVariation UNIPROT Sequence of two alleles responsible for Gaucher disease. 1972019 1990
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
0.800 GeneticVariation CLINVAR Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene. 2508065 1989
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
0.800 CausalMutation CLINVAR