Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200960659
rs200960659
GALC
0.800 GeneticVariation UNIPROT Four novel GALC gene mutations in two Chinese patients with Krabbe disease. 23462331

2013
dbSNP: rs200960659
rs200960659
GALC
A 0.800 GeneticVariation CLINVAR Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. 23197103

2013
dbSNP: rs200960659
rs200960659
GALC
A 0.800 GeneticVariation CLINVAR Child Neurology: Krabbe disease: a potentially treatable white matter disorder. 23128445

2012
dbSNP: rs200960659
rs200960659
GALC
A 0.800 GeneticVariation CLINVAR Early infantile Krabbe disease: results of the World-Wide Krabbe Registry. 21824559

2011
dbSNP: rs200960659
rs200960659
GALC
0.800 GeneticVariation UNIPROT Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. 20886637

2010
dbSNP: rs200960659
rs200960659
GALC
A 0.800 GeneticVariation CLINVAR Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. 20886637

2010
dbSNP: rs200960659
rs200960659
GALC
A 0.800 CausalMutation CLINVAR Intracranial calcification after cord blood neonatal transplantation for krabbe disease. 20135576

2009
dbSNP: rs200960659
rs200960659
GALC
0.800 GeneticVariation UNIPROT A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region. 17579360

2007
dbSNP: rs200960659
rs200960659
GALC
0.800 GeneticVariation UNIPROT Molecular heterogeneity of Krabbe disease. 10234611

1999
dbSNP: rs200960659
rs200960659
GALC
0.800 GeneticVariation UNIPROT Molecular basis of late-life globoid cell leukodystrophy. 10477434

1999
dbSNP: rs200960659
rs200960659
GALC
A 0.800 GeneticVariation CLINVAR Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. 9338580

1997
dbSNP: rs200960659
rs200960659
GALC
A 0.800 GeneticVariation CLINVAR Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin. 9266397

1997
dbSNP: rs200960659
rs200960659
GALC
A 0.800 CausalMutation CLINVAR Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin. 9266397

1997
dbSNP: rs200960659
rs200960659
GALC
0.800 GeneticVariation UNIPROT Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. 9272171

1997
dbSNP: rs200960659
rs200960659
GALC
0.800 GeneticVariation UNIPROT Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. 8940268

1996
dbSNP: rs200960659
rs200960659
GALC
0.800 GeneticVariation UNIPROT Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. 8786069

1996
dbSNP: rs200960659
rs200960659
GALC
0.800 GeneticVariation UNIPROT Molecular defects in Krabbe disease. 8595408

1995