DisGeNET - a database of gene-disease associations

Globoid cell leukodystrophy, C0023521

Variant: rs387906952 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387906952

GALC

0.800

GeneticVariation

UNIPROT

Four novel GALC gene mutations in two Chinese patients with Krabbe disease.

23462331

2013

dbSNP:

rs387906952

GALC

0.800

CausalMutation

CLINVAR

Insights into Krabbe disease from structures of galactocerebrosidase.

21876145

2011

dbSNP:

rs387906952

GALC

0.800

GeneticVariation

UNIPROT

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.

20886637

2010

dbSNP:

rs387906952

GALC

0.800

CausalMutation

CLINVAR

Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones.

20410102

2010

dbSNP:

rs387906952

GALC

0.800

GeneticVariation

UNIPROT

A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.

17579360

2007

dbSNP:

rs387906952

GALC

0.800

CausalMutation

CLINVAR

Early peripheral nervous system manifestations of infantile Krabbe disease.

12699861

2003

dbSNP:

rs387906952

GALC

0.800

GeneticVariation

UNIPROT

Molecular heterogeneity of Krabbe disease.

10234611

1999

dbSNP:

rs387906952

GALC

0.800

GeneticVariation

UNIPROT

Molecular basis of late-life globoid cell leukodystrophy.

10477434

1999

dbSNP:

rs387906952

GALC

0.800

GeneticVariation

UNIPROT

Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients.

9272171

1997

dbSNP:

rs387906952

GALC

0.800

CausalMutation

CLINVAR

Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel.

8786069

1996

dbSNP:

rs387906952

GALC

0.800

GeneticVariation

UNIPROT

Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel.

8786069

1996

dbSNP:

rs387906952

GALC

0.800

GeneticVariation

UNIPROT

Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.

8940268

1996

dbSNP:

rs387906952

GALC

0.800

GeneticVariation

UNIPROT

Molecular defects in Krabbe disease.

8595408

1995