Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs748573754
rs748573754
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		T 0.800 GeneticVariation CLINVAR Pharmacological chaperones increase residual β-galactocerebrosidase activity in fibroblasts from Krabbe patients. 24913062

2014
dbSNP: rs748573754
rs748573754
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		T 0.800 GeneticVariation CLINVAR A high-throughput screening assay using Krabbe disease patient cells. 23138179

2013
dbSNP: rs748573754
rs748573754
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		T 0.800 GeneticVariation CLINVAR Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. 20886637

2010
dbSNP: rs748573754
rs748573754
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		T 0.800 GeneticVariation CLINVAR Molecular basis of late-life globoid cell leukodystrophy. 10477434

1999