DisGeNET - a database of gene-disease associations

ATL1, atlastin GTPase 1, 51062

N. diseases: 112; N. variants: 26

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:

rs119476050

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

CausalMutation

CLINVAR

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.

26671083

2015

dbSNP:

rs119476050

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

CausalMutation

CLINVAR

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.

24451228

2014

dbSNP:

rs119476050

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

CausalMutation

CLINVAR

Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia.

25454648

2014

dbSNP:

rs119476050

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

CausalMutation

CLINVAR

'When atlastin meets spastin'.

24417445

2014

dbSNP:

rs28939094

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

GeneticVariation

UNIPROT

Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

24604904

2014

dbSNP:

rs28939094

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

GeneticVariation

UNIPROT

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.

24473461

2014

dbSNP:

rs387906941

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

GeneticVariation

UNIPROT

Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

24604904

2014

dbSNP:

rs387906941

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

GeneticVariation

UNIPROT

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.

24473461

2014

dbSNP:

rs397514712

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

GeneticVariation

UNIPROT

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.

24473461

2014

dbSNP:

rs397514712

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

GeneticVariation

UNIPROT

Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

24604904

2014

dbSNP:

rs864622269

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

GeneticVariation

UNIPROT

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.

24473461

2014

dbSNP:

rs864622269

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

GeneticVariation

UNIPROT

Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

24604904

2014

dbSNP:

rs864622520

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

GeneticVariation

UNIPROT

Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

24604904

2014

dbSNP:

rs864622520

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

GeneticVariation

UNIPROT

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.

24473461

2014

dbSNP:

rs119476050

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

CausalMutation

CLINVAR

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.

23483706

2013

dbSNP:

rs28939094

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

GeneticVariation

UNIPROT

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.

23483706

2013

dbSNP:

rs387906941

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

GeneticVariation

UNIPROT

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.

23483706

2013

dbSNP:

rs397514712

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

GeneticVariation

UNIPROT

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.

23483706

2013

dbSNP:

rs864622269

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

GeneticVariation

UNIPROT

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.

23483706

2013

dbSNP:

rs864622269

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

CausalMutation

CLINVAR

Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking.

23079343

2013

dbSNP:

rs864622520

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

GeneticVariation

UNIPROT

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.

23483706

2013

dbSNP:

rs119476050

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

CausalMutation

CLINVAR

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation.

21336785

2011

dbSNP:

rs28939094

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

GeneticVariation

UNIPROT

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.

20718791

2011

dbSNP:

rs28939094

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

GeneticVariation

UNIPROT

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation.

21336785

2011

dbSNP:

rs387906941

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

CUI:	C2931355
Disease:

Spastic paraplegia 3, autosomal dominant

0.800

GeneticVariation

UNIPROT

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation.

21336785

2011