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:

rs121918357

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

27217339

2016

dbSNP:

rs141659620

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

27217339

2016

dbSNP:

rs141659620

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

26626314

2016

dbSNP:

rs141659620

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.

27790088

2016

dbSNP:

rs267607085

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

27217339

2016

dbSNP:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

CLINVAR

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

26626314

2016

dbSNP:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

26626314

2016

dbSNP:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

CLINVAR

Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.

26506339

2015

dbSNP:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

CLINVAR

SPG7 mutations are a common cause of undiagnosed ataxia.

25681447

2015

dbSNP:

rs141659620

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

Early-onset optic neuropathy as initial clinical presentation in SPG7.

25034272

2014

dbSNP:

rs141659620

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

25133958

2014

dbSNP:

rs141659620

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.

23812641

2013

dbSNP:

rs141659620

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.

23733235

2013

dbSNP:

rs141659620

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.

23269439

2013

dbSNP:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.

23269439

2013

dbSNP:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

CLINVAR

SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.

22571692

2013

dbSNP:

rs141659620

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

22964162

2012

dbSNP:

rs141659620

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

23065789

2012

dbSNP:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

CLINVAR

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

23065789

2012

dbSNP:

rs141659620

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.

21623769

2011

dbSNP:

rs121918357

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

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

GeneticVariation

UNIPROT

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

Functional evaluation of paraplegin mutations by a yeast complementation assay.

20186691

2010

dbSNP:

rs267607085

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Functional evaluation of paraplegin mutations by a yeast complementation assay.

20186691

2010

dbSNP:

rs61755320

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C1846564
Disease:

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

Functional evaluation of paraplegin mutations by a yeast complementation assay.

20186691

2010