Gene: GALC ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease CLINVAR Precision newborn screening for lysosomal disorders. 29120458 2018
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity. 26865610 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 CausalMutation disease CLINVAR Newborn screening for Krabbe disease in New York State: the first eight years' experience. 26795590 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 CausalMutation disease CLINVAR Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. 27126738 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 CausalMutation disease CLINVAR Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease. 27780934 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 CausalMutation disease CLINVAR The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings. 26108647 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease CLINVAR Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity. 26865610 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 GeneticVariation disease CLINVAR New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperones. 27638604 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 GeneticVariation disease CLINVAR Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease. 27780934 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 GeneticVariation disease CLINVAR Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. 27126738 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 GeneticVariation disease CLINVAR The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings. 26108647 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 CausalMutation disease CLINVAR Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease. 27679535 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 GeneticVariation disease CLINVAR Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports. 27785412 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 GeneticVariation disease CLINVAR Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease. 27679535 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease CLINVAR Newborn screening for Krabbe disease in New York State: the first eight years' experience. 26795590 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 CausalMutation disease CLINVAR History, genetic, and recent advances on Krabbe disease. 25260228 2015
Entrez Id: 2581
Gene Symbol: GALC
GALC 		1.000 CausalMutation disease CLINVAR Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD). 27442402 2015