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 CTD_human
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
Entrez Id: 2581
Gene Symbol: GALC
GALC
1.000 Biomarker disease BEFREE 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
1.000 GeneticVariation disease UNIPROT 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
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 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 UNIPROT 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 BEFREE Krabbe disease (globoid-cell leukodystrophy; GLD) is caused by mutations in the GALC gene. 11814461 2002
Entrez Id: 2581
Gene Symbol: GALC
GALC
1.000 GeneticVariation disease BEFREE Globoid cell leukodystrophy (Krabbe's disease) is a rare autosomal recessive lipidosis, with signs restricted to the nervous system, and is caused by deficiency of the lysosomal hydrolase galactocerebroside beta-galactosidase (galactocerebrosidase). 1565214 1992
Entrez Id: 2581
Gene Symbol: GALC
GALC
1.000 AlteredExpression disease BEFREE Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations. 16435193 2005
Entrez Id: 2581
Gene Symbol: GALC
GALC
1.000 Biomarker disease BEFREE Globoid cell leukodystrophy (Krabbe disease) is an inherited neurological disorder caused by the pathogenomic accumulation of psychosine (galactosylsphingosine), a substrate for the deficient enzyme galactocerebroside beta-galactosidase. 16645197 2006
Entrez Id: 2581
Gene Symbol: GALC
GALC
1.000 GeneticVariation disease BEFREE Krabbe disease or globoid cell leukodystrophy is an autosomal recessive disorder resulting from mutations in the galactocerebrosidase (GALC) gene. 19217332 2009
Entrez Id: 2581
Gene Symbol: GALC
GALC
1.000 GeneticVariation disease BEFREE Krabbe leukodystrophy (KD) is a neurodegenerative lysosomal disorder caused by mutations in the galactocerebrosidase (GALC) gene. 21070211 2011
Entrez Id: 2581
Gene Symbol: GALC
GALC
1.000 Biomarker disease GENOMICS_ENGLAND Krabbe leukodystrophy (KD) is a neurodegenerative lysosomal disorder caused by mutations in the galactocerebrosidase (GALC) gene. 21070211 2011
Entrez Id: 2581
Gene Symbol: GALC
GALC
1.000 GeneticVariation disease BEFREE Globoid cell leukodystrophy (GLD; also known as Krabbe disease) is an invariably fatal lysosomal storage disorder caused by mutations in the galactocerebrosidase (GALC) gene. 21084719 2010
Entrez Id: 2581
Gene Symbol: GALC
GALC
1.000 Biomarker disease BEFREE Krabbe disease (KD) results from galactocerebrosidase (GALC) deficiency. 26795590 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
1.000 GeneticVariation disease BEFREE Globoid cell leukodystrophy (GLD, Krabbe disease) is due to autosomal recessive mutations in the lysosomal enzyme galactosylceramidase (GALC). 26865610 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
1.000 GeneticVariation disease BEFREE Globoid cell leukodystrophy (GLD), or Krabbe's disease, is a debilitating and always fatal pediatric neurodegenerative disease caused by a mutation in the gene encoding the hydrolytic enzyme galactosylceramidase (GALC). 27638585 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
1.000 GeneticVariation disease BEFREE Globoid cell leukodystrophy (GLD) is an autosomal recessive neurodegenerative disorder caused by a deficiency of the lysosomal enzyme galactocerebrosidase (GALC). 27638598 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
1.000 AlteredExpression disease BEFREE Krabbe's disease (KD) is a degenerative lysosomal storage disease resulting from deficiency of β-galactocerebrosidase activity. 27638609 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
1.000 Biomarker disease BEFREE Globoid cell leukodystrophy (GLD), or Krabbe's disease, is a lysosomal storage disorder resulting from deficiency of the lysosomal hydrolase galactosylceramidase. 27638612 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
1.000 Biomarker disease BEFREE Globoid cell leukodystrophy (GCL), or Krabbe disease, is a lysosomal storage disorder characterized by a deficiency in galactosylceramidase (GALC), which hydrolyses galactosylceramide and galactosylsphingosine (psychosine). 27721144 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
1.000 Biomarker disease BEFREE Krabbe disease (KD) is a rare disease caused by the deficiency of β-galactocerebrosidase. 28598007 2018
Entrez Id: 2581
Gene Symbol: GALC
GALC
1.000 AlteredExpression disease BEFREE Globoid cell leukodystrophy (GLD), or Krabbe disease, is an inherited, neurologic disorder that results from deficiency of a lysosomal enzyme, galactosylceramidase. 29316812 2018
Entrez Id: 2581
Gene Symbol: GALC
GALC
1.000 GeneticVariation disease BEFREE Krabbe disease (KD) is a rare autosomal recessive lysosomal storage disorder caused by deficiency of the galactocerebrosidase (GALC) enzyme. 29951496 2018