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 CausalMutation CLINVAR Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease. 28598007

2018
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family. 30209698

2018
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Precision newborn screening for lysosomal disorders. 29120458

2018
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities. 28976722

2018
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. 28600779

2017
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR Compound heterozygosity in the GALC gene in a late onset Iranian patient with spastic paraparesis, peripheral neuropathy and leukoencephalopathy. 28547031

2017
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity. 26865610

2016
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 in New York State: the first eight years' experience. 26795590

2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. 27126738

2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease. 27780934

2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings. 26108647

2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease. 27638593

2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity. 26865610

2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperones. 27638604

2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease. 27780934

2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. 27126738

2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings. 26108647

2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease. 27679535

2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports. 27785412

2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease. 27679535

2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Mutations in GALC cause Krabbe disease.This autosomal recessive leukodystrophy generally presents in early infancy as a severe disorder, but sometimes manifests as a milder adult-onset disease with spastic paraplegia as the main symptom. 26915362

2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease. 27638593

2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 GeneticVariation CLINVAR Newborn screening for Krabbe disease in New York State: the first eight years' experience. 26795590

2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR History, genetic, and recent advances on Krabbe disease. 25260228

2015
Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 CausalMutation CLINVAR Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD). 27442402

2015