rs364897, GBA

N. diseases: 6
Disease: Gaucher Disease, Type 3 (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gaucher Disease, Type 3 (disorder)
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
0.800 GeneticVariation UNIPROT Functional analysis of 11 novel GBA alleles. 24022302 2014
Gaucher Disease, Type 3 (disorder)
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
0.800 GeneticVariation UNIPROT The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. 11933202 2002
Gaucher Disease, Type 3 (disorder)
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
0.800 GeneticVariation UNIPROT Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease. 8780099 1996
Gaucher Disease, Type 3 (disorder)
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
0.800 CausalMutation CLINVAR