rs1057516642, GALC

N. diseases: 1
Disease: Globoid cell leukodystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Globoid cell leukodystrophy
CUI: C0023521
Disease: Globoid cell leukodystrophy
0.800 GeneticVariation CLINVAR Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form. 24252386 2014
Globoid cell leukodystrophy
CUI: C0023521
Disease: Globoid cell leukodystrophy
0.800 GeneticVariation UNIPROT Four novel GALC gene mutations in two Chinese patients with Krabbe disease. 23462331 2013
Globoid cell leukodystrophy
CUI: C0023521
Disease: Globoid cell leukodystrophy
0.800 GeneticVariation CLINVAR Insights into Krabbe disease from structures of galactocerebrosidase. 21876145 2011
Globoid cell leukodystrophy
CUI: C0023521
Disease: Globoid cell leukodystrophy
0.800 GeneticVariation UNIPROT Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. 20886637 2010
Globoid cell leukodystrophy
CUI: C0023521
Disease: Globoid cell leukodystrophy
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
Globoid cell leukodystrophy
CUI: C0023521
Disease: Globoid cell leukodystrophy
0.800 GeneticVariation UNIPROT Molecular basis of late-life globoid cell leukodystrophy. 10477434 1999
Globoid cell leukodystrophy
CUI: C0023521
Disease: Globoid cell leukodystrophy
0.800 GeneticVariation UNIPROT Molecular heterogeneity of Krabbe disease. 10234611 1999
Globoid cell leukodystrophy
CUI: C0023521
Disease: Globoid cell leukodystrophy
0.800 GeneticVariation UNIPROT Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. 9272171 1997
Globoid cell leukodystrophy
CUI: C0023521
Disease: Globoid cell leukodystrophy
0.800 GeneticVariation UNIPROT Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. 8786069 1996
Globoid cell leukodystrophy
CUI: C0023521
Disease: Globoid cell leukodystrophy
0.800 GeneticVariation UNIPROT Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. 8940268 1996
Globoid cell leukodystrophy
CUI: C0023521
Disease: Globoid cell leukodystrophy
0.800 GeneticVariation UNIPROT Molecular defects in Krabbe disease. 8595408 1995
Globoid cell leukodystrophy
CUI: C0023521
Disease: Globoid cell leukodystrophy
0.800 GeneticVariation CLINVAR Molecular defects in Krabbe disease. 8595408 1995