DisGeNET - a database of gene-disease associations

ALDH18A1, aldehyde dehydrogenase 18 family member A1, 5832

N. diseases: 206; N. variants: 22

Disease: SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs864321669

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

CUI:	C1832669
Disease:

SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)

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:

rs864321670

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

CUI:	C1832669
Disease:

SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)

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:

rs864321670

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

CUI:	C1832669
Disease:

SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)

0.800

CausalMutation

CLINVAR

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

26297558

2016

dbSNP:

rs864321669

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

CUI:	C1832669
Disease:

SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)

0.800

GeneticVariation

UNIPROT

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

26026163

2015

dbSNP:

rs864321670

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

CUI:	C1832669
Disease:

SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)

0.800

CausalMutation

CLINVAR

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

26026163

2015

dbSNP:

rs864321670

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

CUI:	C1832669
Disease:

SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)

0.800

GeneticVariation

UNIPROT

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

26026163

2015

dbSNP:

rs766264810

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

CUI:	C1832669
Disease:

SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs766264810

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

CUI:	C1832669
Disease:

SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)

0.800

GeneticVariation

UNIPROT

dbSNP:

rs863224945

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

CUI:	C1832669
Disease:

SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)

0.800

GeneticVariation

UNIPROT

dbSNP:

rs863224945

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

CUI:	C1832669
Disease:

SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs864321669

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

CUI:	C1832669
Disease:

SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)

0.800

CausalMutation

CLINVAR