DisGeNET - a database of gene-disease associations

SPG7, SPG7 matrix AAA peptidase subunit, paraplegin, 6687

N. diseases: 419; N. variants: 44

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:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

CLINVAR

Functional evaluation of paraplegin mutations by a yeast complementation assay.

20186691

2010

dbSNP:

rs141659620

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.

18799786

2008

dbSNP:

rs121918357

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

17646629

2007

dbSNP:

rs141659620

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

17646629

2007

dbSNP:

rs267607085

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

17646629

2007

dbSNP:

rs121918357

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.

16534102

2006

dbSNP:

rs141659620

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.

16534102

2006

dbSNP:

rs267607085

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.

16534102

2006

dbSNP:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.

16534102

2006

dbSNP:

rs121918357

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

9635427

1998

dbSNP:

rs141659620

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

9635427

1998

dbSNP:

rs267607085

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

9635427

1998

dbSNP:

rs121918357

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

dbSNP:

rs141659620

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

CLINVAR

dbSNP:

rs267607085

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

dbSNP:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

dbSNP:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C0004134
Disease:

Ataxia

0.720

GeneticVariation

BEFREE

Patients with at least 1 Ala510Val variant (58%) were older (age 37.6 ± 13.7 vs 32.8 ± 14.6 years, <i>p</i> < 0.05) and showed ataxia at onset (<i>p</i> < 0.05).

31068484

2019

dbSNP:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C0004134
Disease:

Ataxia

0.720

GeneticVariation

BEFREE

The SPG7 c.1529C>T (p.Ala510Val) mutants accounted for 2.3% of cerebellar ataxia cases in Italy, suggesting that this variant should be considered as a priority test in the presence of late-onset pure ataxia.

30098094

2019

dbSNP:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C0037773
Disease:

Spastic Paraplegia, Hereditary

0.720

GeneticVariation

BEFREE

The TmFtsH A359V mutation, a homolog of the human pathogenic A510V mutation of paraplegin (SPG7) causing hereditary spastic paraplegia, does not affect the dynamic behavior of the protease but impairs the ATP-coupled domain compaction and, thus, may account for protease malfunctioning and pathogenesis in hereditary spastic paraplegia.

30044948

2018

dbSNP:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C0037773
Disease:

Spastic Paraplegia, Hereditary

0.720

GeneticVariation

CLINVAR

Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene.

29057857

2017

dbSNP:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C0037773
Disease:

Spastic Paraplegia, Hereditary

0.720

CausalMutation

CLINVAR

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

28832565

2017

dbSNP:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C0037773
Disease:

Spastic Paraplegia, Hereditary

0.720

GeneticVariation

CLINVAR

Expanded phenotype in a patient with spastic paraplegia 7.

29026558

2017

dbSNP:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C0037773
Disease:

Spastic Paraplegia, Hereditary

0.720

GeneticVariation

CLINVAR

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

28832565

2017

dbSNP:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C0037773
Disease:

Spastic Paraplegia, Hereditary

0.720

GeneticVariation

CLINVAR

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.

28362824

2017

dbSNP:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C0037773
Disease:

Spastic Paraplegia, Hereditary

0.720

GeneticVariation

CLINVAR

Clinical and genetic study of hereditary spastic paraplegia in Canada.

27957547

2017