DisGeNET - a database of gene-disease associations

Spastic Paraplegia 42, Autosomal Dominant, C2675528

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:

rs121909484

SLC33A1 ; LOC105374174

0.800

GeneticVariation

UNIPROT

Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family.

25402622

2015

dbSNP:

rs121909484

SLC33A1 ; LOC105374174

0.800

GeneticVariation

UNIPROT

A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).

19061983

2008

dbSNP:

rs121909484

SLC33A1 ; LOC105374174

0.800

CausalMutation

CLINVAR