Gene: GALC ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906955
rs387906955
GALC
T 0.810 CausalMutation CLINVAR

dbSNP: rs756352952
rs756352952
GALC
A 0.800 CausalMutation CLINVAR Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease. 28598007

2018
dbSNP: rs199847983
rs199847983
GALC
T 0.800 CausalMutation CLINVAR Compound heterozygosity in the GALC gene in a late onset Iranian patient with spastic paraparesis, peripheral neuropathy and leukoencephalopathy. 28547031

2017
dbSNP: rs199847983
rs199847983
GALC
T 0.800 CausalMutation CLINVAR The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. 28600779

2017
dbSNP: rs147313927
rs147313927
GALC
C 0.800 GeneticVariation CLINVAR Newborn screening for Krabbe disease in New York State: the first eight years' experience. 26795590

2016
dbSNP: rs147313927
rs147313927
GALC
C 0.800 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
dbSNP: rs147313927
rs147313927
GALC
C 0.800 GeneticVariation CLINVAR Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia. 26915362

2016
dbSNP: rs199847983
rs199847983
GALC
T 0.800 CausalMutation CLINVAR Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease. 27780934

2016
dbSNP: rs752537626
rs752537626
GALC
G 0.800 GeneticVariation CLINVAR Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity. 26865610

2016
dbSNP: rs752537626
rs752537626
GALC
G 0.800 GeneticVariation CLINVAR Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. 27126738

2016
dbSNP: rs752537626
rs752537626
GALC
G 0.800 CausalMutation CLINVAR Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. 27126738

2016
dbSNP: rs752537626
rs752537626
GALC
G 0.800 CausalMutation CLINVAR Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity. 26865610

2016
dbSNP: rs770485731
rs770485731
GALC
A 0.800 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
dbSNP: rs770485731
rs770485731
GALC
A 0.800 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
dbSNP: rs886039569
rs886039569
GALC
G 0.800 CausalMutation CLINVAR The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings. 26108647

2016
dbSNP: rs886039569
rs886039569
GALC
G 0.800 CausalMutation CLINVAR Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD). 27442402

2015
dbSNP: rs1057516642
rs1057516642
GALC
C 0.800 GeneticVariation CLINVAR Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form. 24252386

2014
dbSNP: rs199847983
rs199847983
GALC
T 0.800 GeneticVariation CLINVAR Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form. 24252386

2014
dbSNP: rs748573754
rs748573754
GALC
T 0.800 GeneticVariation CLINVAR Pharmacological chaperones increase residual β-galactocerebrosidase activity in fibroblasts from Krabbe patients. 24913062

2014
dbSNP: rs147313927
rs147313927
GALC
C 0.800 GeneticVariation CLINVAR Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. 23197103

2013
dbSNP: rs147313927
rs147313927
GALC
C 0.800 GeneticVariation CLINVAR Cost-effective and scalable DNA extraction method from dried blood spots. 23509109

2013
dbSNP: rs199847983
rs199847983
GALC
T 0.800 CausalMutation CLINVAR Stem cell transplantation for adult-onset krabbe disease: report of a case. 23430802

2013
dbSNP: rs200960659
rs200960659
GALC
A 0.800 GeneticVariation CLINVAR Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. 23197103

2013
dbSNP: rs748573754
rs748573754
GALC
T 0.800 GeneticVariation CLINVAR A high-throughput screening assay using Krabbe disease patient cells. 23138179

2013
dbSNP: rs749893889
rs749893889
GALC
A 0.800 GeneticVariation CLINVAR Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. 23197103

2013