Gene: GALC ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 Biomarker disease BEFREE Globoid cell leukodystrophy (GCL) or Krabbe disease is an autosomal recessive inherited disease caused by the deficiency of galactocerebrosidase, the lysosomal enzyme responsible for the degradation of galactocerebroside, a major component of myelin. 8579588 1996
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 GeneticVariation disease CLINVAR We have analyzed the galactocerebrosidase gene in 17 patients (nine families) with late-onset GLD and in 1 patient with classical Krabbe disease. 8940268 1996
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 GeneticVariation disease BEFREE Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease. 8769874 1996
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 CausalMutation disease CLINVAR Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. 8786069 1996
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 GeneticVariation disease BEFREE Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease. 8687180 1996
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 CausalMutation disease CLINVAR Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. 9338580 1997
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 Biomarker disease BEFREE Galactocerebrosidase (GALC) is the lysosomal enzyme deficient in human and certain animal species with globoid cell leukodystrophy (GLD) or Krabbe disease. 9441867 1997
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 GeneticVariation disease CLINVAR Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene. 9005874 1997
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 GeneticVariation disease UNIPROT Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. 9272171 1997
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 GeneticVariation disease CLINVAR Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. 9338580 1997
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease BEFREE 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 		1.000 GeneticVariation disease BEFREE Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene. 9005874 1997
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 GeneticVariation disease BEFREE 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 		1.000 GeneticVariation disease BEFREE Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. 9272171 1997
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease BEFREE We now describe the cloning of the GALC cDNA and gene from the rhesus monkey and the identification of the mutation causing GLD in this species. 9192853 1997
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease BEFREE Globoid cell leukodystrophy (GCL or Krabbe disease) is a recessive disease caused by mutations of the lysosomal enzyme galactocerebrosidase (GALC) and twitcher is the murine model of GCL. 9875712 1998
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease CLINVAR Protracted course of Krabbe disease in an adult patient bearing a novel mutation. 10448809 1999
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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