DisGeNET - a database of gene-disease associations

Spastic Paraplegia, C0037772

Variant: rs587776888 ×

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:

rs587776888

GJC2

0.700

CausalMutation

CLINVAR

GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

24374284

2014

dbSNP:

rs587776888

GJC2

0.700

CausalMutation

CLINVAR

Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.

23142375

2013

dbSNP:

rs587776888

GJC2

0.700

CausalMutation

CLINVAR

Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.

21246605

2012

dbSNP:

rs587776888

GJC2

0.700

CausalMutation

CLINVAR

Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.

21959080

2011

dbSNP:

rs587776888

GJC2

0.700

CausalMutation

CLINVAR

Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.

20695017

2010