Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906952
rs387906952
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		T 0.800 CausalMutation CLINVAR Insights into Krabbe disease from structures of galactocerebrosidase. 21876145

2011
dbSNP: rs387906952
rs387906952
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		T 0.800 CausalMutation CLINVAR Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones. 20410102

2010
dbSNP: rs387906952
rs387906952
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		T 0.800 CausalMutation CLINVAR Early peripheral nervous system manifestations of infantile Krabbe disease. 12699861

2003
dbSNP: rs387906952
rs387906952
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		T 0.800 CausalMutation CLINVAR Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. 8786069

1996