Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR This study, reporting one of the largest genotype-phenotype analyses of the GALC gene so far performed in a European Krabbe disease cohort, revealed that the Italian GALC mutational profile differs significantly from other populations of European origin. 20886637

2010
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR Newborn screening for Krabbe disease: the New York State model. 19302934

2009
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR Intracranial calcification after cord blood neonatal transplantation for krabbe disease. 20135576

2009
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR 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
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR 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
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation. 16607461

2006
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation. 16607461

2006
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD). 16759875

2006
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR Early peripheral nervous system manifestations of infantile Krabbe disease. 12699861

2003
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease. 11151421

2000
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease. 11151421

2000
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Globoid cell leukodystrophy is an autosomal recessive inherited disease caused by deficiency of the lysosomal enzyme galactocerebrosidase (GALC). 10477434

1999
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Protracted course of Krabbe disease in an adult patient bearing a novel mutation. 10448809

1999
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR Globoid cell leukodystrophy is an autosomal recessive inherited disease caused by deficiency of the lysosomal enzyme galactocerebrosidase (GALC). 10477434

1999
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive neurodegenerative disorder that affects both the central and peripheral nervous system due to an enzymatic defect of galactocerebrosidase (GALC). 10234611

1999
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR Protracted course of Krabbe disease in an adult patient bearing a novel mutation. 10448809

1999
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease. 10464649

1999
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. 9338580

1997
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene. 9005874

1997
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. 9338580

1997
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination. 9371928

1997
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. 9272171

1997
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin. 9266397

1997
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. 9272171

1997
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin. 9266397

1997