Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: rs199847983
rs199847983
GALC
T 0.800 CausalMutation CLINVAR Stem cell transplantation for adult-onset krabbe disease: report of a case. 23430802

2013
dbSNP: rs199847983
rs199847983
GALC
T 0.800 GeneticVariation CLINVAR Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. 20886637

2010
dbSNP: rs199847983
rs199847983
GALC
T 0.800 CausalMutation CLINVAR Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. 20886637

2010
dbSNP: rs199847983
rs199847983
GALC
T 0.800 CausalMutation CLINVAR Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation. 16607461

2006
dbSNP: rs199847983
rs199847983
GALC
T 0.800 GeneticVariation CLINVAR Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation. 16607461

2006
dbSNP: rs199847983
rs199847983
GALC
T 0.800 GeneticVariation CLINVAR Molecular basis of late-life globoid cell leukodystrophy. 10477434

1999
dbSNP: rs199847983
rs199847983
GALC
T 0.800 CausalMutation CLINVAR Molecular basis of late-life globoid cell leukodystrophy. 10477434

1999
dbSNP: rs199847983
rs199847983
GALC
T 0.800 GeneticVariation CLINVAR Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. 9272171

1997
dbSNP: rs199847983
rs199847983
GALC
T 0.800 CausalMutation CLINVAR Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. 9272171

1997
dbSNP: rs199847983
rs199847983
GALC
0.800 GeneticVariation UNIPROT