Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746922378
rs746922378
GALC
G 0.700 GeneticVariation CLINVAR Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. 27126738

2016
dbSNP: rs746922378
rs746922378
GALC
G 0.700 GeneticVariation CLINVAR Pharmacological chaperones increase residual β-galactocerebrosidase activity in fibroblasts from Krabbe patients. 24913062

2014
dbSNP: rs746922378
rs746922378
GALC
G 0.700 GeneticVariation CLINVAR Insights into Krabbe disease from structures of galactocerebrosidase. 21876145

2011
dbSNP: rs746922378
rs746922378
GALC
G 0.700 GeneticVariation CLINVAR Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. 20886637

2010
dbSNP: rs746922378
rs746922378
GALC
G 0.700 GeneticVariation CLINVAR Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. 9338580

1997