DisGeNET - a database of gene-disease associations

ALDH3A2, aldehyde dehydrogenase 3 family member A2, 224

N. diseases: 78; N. variants: 27

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:

rs72547571

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.810

GeneticVariation

UNIPROT

A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome.

10792573

2000

dbSNP:

rs72547571

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.810

GeneticVariation

UNIPROT

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

10577908

1999

dbSNP:

rs72547571

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.810

CausalMutation

CLINVAR

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

10577908

1999

dbSNP:

rs72547571

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.810

GeneticVariation

UNIPROT

Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.

9829906

1998

dbSNP:

rs72547571

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.810

CausalMutation

CLINVAR

Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients.

9204959

1997

dbSNP:

rs72547571

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.810

CausalMutation

CLINVAR

A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden.

9254849

1997

dbSNP:

rs72547571

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.810

GeneticVariation

BEFREE

The finding that C943T is a common SLS mutation in northern European and Swedish patients affords a rapid simple method for diagnosing SLS by screening patients for this mutation with DNA-based methods.

9204959

1997

dbSNP:

rs72547571

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.810

GeneticVariation

UNIPROT

A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden.

9254849

1997

dbSNP:

rs72547571

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.810

GeneticVariation

UNIPROT

Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene.

8528251

1996

dbSNP:

rs72547568

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.800

GeneticVariation

CLINVAR

Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran.

29183715

2018

dbSNP:

rs72547568

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.800

GeneticVariation

CLINVAR

A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.

25047030

2014

dbSNP:

rs72547568

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.800

GeneticVariation

CLINVAR

Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.

21872273

2012

dbSNP:

rs72547562

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.800

GeneticVariation

CLINVAR

Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry.

19124283

2009

dbSNP:

rs72547568

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.800

GeneticVariation

CLINVAR

Characterisation of recombinant human fatty aldehyde dehydrogenase: implications for Sjögren-Larsson syndrome.

18035827

2007

dbSNP:

rs72547568

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.800

GeneticVariation

CLINVAR

Understanding mutations and protein stability through tripeptides.

16546179

2006

dbSNP:

rs72547562

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.800

GeneticVariation

CLINVAR

Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.

11408337

2001

dbSNP:

rs72547568

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.800

GeneticVariation

CLINVAR

Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.

11408337

2001

dbSNP:

rs72547562

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.800

GeneticVariation

UNIPROT

A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome.

10792573

2000

dbSNP:

rs72547568

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.800

GeneticVariation

UNIPROT

A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome.

10792573

2000

dbSNP:

rs72547568

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.800

GeneticVariation

CLINVAR

RNA-based mutation screening in German families with Sjögren-Larsson syndrome.

10854114

2000

dbSNP:

rs72547569

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.800

GeneticVariation

UNIPROT

A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome.

10792573

2000

dbSNP:

rs72547562

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.800

GeneticVariation

UNIPROT

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

10577908

1999

dbSNP:

rs72547568

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.800

GeneticVariation

UNIPROT

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

10577908

1999

dbSNP:

rs72547568

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.800

GeneticVariation

CLINVAR

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

10577908

1999

dbSNP:

rs72547569

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

CUI:	C0037231
Disease:

Sjogren-Larsson Syndrome

0.800

GeneticVariation

UNIPROT

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

10577908

1999