rs421016, GBA

N. diseases: 15
Disease: Gaucher Disease ×
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
0.800 CausalMutation CLINVAR Functional analysis of 11 novel GBA alleles. 24022302 2014
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
0.800 CausalMutation CLINVAR A common and two novel GBA mutations in Thai patients with Gaucher disease. 23719189 2013
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
0.800 CausalMutation CLINVAR Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease. 23430543 2013
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
0.800 CausalMutation CLINVAR Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1. 15605411 2005
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
0.800 CausalMutation CLINVAR Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients. 14757438 2004
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
0.800 GeneticVariation CLINVAR New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P. 7981693 1994