Disease: Gaucher Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.110 GeneticVariation disease GWASCAT Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation. 22388998 2012
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.110 AlteredExpression disease BEFREE In cultured skin fibroblasts, the relative expression of CLN8 was higher in mild GD compared to severely affected patients, in whom CLN8 risk alleles were overrepresented. 22388998 2012