DisGeNET - a database of gene-disease associations

SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder), C1832669

Variant: rs864321669 ×

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:

rs864321669

ALDH18A1

0.800

GeneticVariation

UNIPROT

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.

26297558

2016

dbSNP:

rs864321669

ALDH18A1

0.800

GeneticVariation

UNIPROT

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

26026163

2015

dbSNP:

rs864321669

ALDH18A1

0.800

CausalMutation

CLINVAR