Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs770485731
rs770485731
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.800 GeneticVariation CLINVAR Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease. 27638593

2016
dbSNP: rs770485731
rs770485731
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.800 CausalMutation CLINVAR Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease. 27638593

2016
dbSNP: rs770485731
rs770485731
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.800 CausalMutation CLINVAR Structural snapshots illustrate the catalytic cycle of β-galactocerebrosidase, the defective enzyme in Krabbe disease. 24297913

2013
dbSNP: rs770485731
rs770485731
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.800 GeneticVariation CLINVAR Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature. 23319190

2012
dbSNP: rs770485731
rs770485731
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.800 GeneticVariation CLINVAR Early infantile Krabbe disease: results of the World-Wide Krabbe Registry. 21824559

2011
dbSNP: rs770485731
rs770485731
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.800 CausalMutation CLINVAR Insights into Krabbe disease from structures of galactocerebrosidase. 21876145

2011
dbSNP: rs770485731
rs770485731
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.800 GeneticVariation CLINVAR Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. 20886637

2010
dbSNP: rs770485731
rs770485731
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.800 GeneticVariation CLINVAR Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. 9338580

1997
dbSNP: rs770485731
rs770485731
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.800 CausalMutation CLINVAR Galactosylceramide-beta-galactosidase deficiency in association with cherry red spot. 3362311

1988