rs421016, GBA

N. diseases: 30
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
0.850 GeneticVariation BEFREE The given study establishes p.Leu483Pro as the most prevalent mutation in the Indian patients with type 1 Gaucher disease that provide new insight into the molecular basis of Gaucher Disease in India. 30764785 2019
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
0.850 GeneticVariation BEFREE Further, in the GD1 group, the neurochemical profiles were compared between individuals with and without a single L444P allele. 31613991 2019
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
0.850 GeneticVariation BEFREE Our results suggest that GBA deficiency due to L444P GBA heterozygous mutation and the accompanying accumulation of α-synuclein render DA neurons more susceptible to MPTP intoxication. 29310663 2018
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
0.850 GeneticVariation BEFREE Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India. 30285649 2018
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
0.850 GeneticVariation BEFREE Here, we describe the case of an adult non-Jewish Caucasian male with a heterozygous Gaucher disease type 1 (mutations c.1226A>G and c.1448T>C in the GBA1 gene) who presented with atypical morphology of GC on bone marrow examination. 21113739 2011
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
0.850 GeneticVariation UNIPROT
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
0.850 GeneticVariation CLINVAR
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
0.850 CausalMutation CLINVAR