DisGeNET - a database of gene-disease associations

SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, C4225250

Variant: rs587777229 ×

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:

rs587777229

MAG

0.800

GeneticVariation

UNIPROT

Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site.

27606346

2016

dbSNP:

rs587777229

MAG

0.800

GeneticVariation

UNIPROT

Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.

26179919

2015

dbSNP:

rs587777229

MAG

0.800

GeneticVariation

UNIPROT

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

24482476

2014

dbSNP:

rs587777229

MAG

0.800

CausalMutation

CLINVAR