Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs756352952
rs756352952
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.800 CausalMutation CLINVAR Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease. 28598007

2018
dbSNP: rs756352952
rs756352952
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.800 GeneticVariation CLINVAR Insights into Krabbe disease from structures of galactocerebrosidase. 21876145

2011
dbSNP: rs756352952
rs756352952
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.800 GeneticVariation CLINVAR Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. 20886637

2010
dbSNP: rs756352952
rs756352952
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.800 CausalMutation CLINVAR Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. 20886637

2010
dbSNP: rs756352952
rs756352952
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.800 CausalMutation CLINVAR Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease. 11151421

2000
dbSNP: rs756352952
rs756352952
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.800 GeneticVariation CLINVAR Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease. 11151421

2000
dbSNP: rs756352952
rs756352952
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.800 CausalMutation CLINVAR Protracted course of Krabbe disease in an adult patient bearing a novel mutation. 10448809

1999
dbSNP: rs756352952
rs756352952
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.800 GeneticVariation CLINVAR Protracted course of Krabbe disease in an adult patient bearing a novel mutation. 10448809

1999
dbSNP: rs756352952
rs756352952
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.800 CausalMutation CLINVAR Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. 9338580

1997
dbSNP: rs756352952
rs756352952
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.800 GeneticVariation CLINVAR Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. 9338580

1997