DisGeNET - a database of gene-disease associations

Spastic Paraplegia, Hereditary, C0037773

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387907288

KIF5A

0.700

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:

rs537742207

MDH2

0.010

GeneticVariation

BEFREE

An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia.

31444388

2019

dbSNP:

rs104894490

NIPA1

0.700

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:

rs1331686243

NIPA1

0.010

GeneticVariation

BEFREE

Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia.

16795073

2006

dbSNP:

rs1266102026

REEP1

0.700

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:

rs1553316816

SPAST

0.700

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:

rs587777757

SPAST

0.010

GeneticVariation

BEFREE

The authors report a nucleotide substitution (c.1216A>G) in SPG4 (spastin) causing hereditary spastic paraplegia.

16476945

2006

dbSNP:

rs770388772

SPAST

0.010

GeneticVariation

BEFREE

The authors report a nucleotide substitution (c.1216A>G) in SPG4 (spastin) causing hereditary spastic paraplegia.

16476945

2006

dbSNP:

rs878854991

SPAST

0.010

GeneticVariation

BEFREE

An extensive genetic analysis identified a specific class of heterozygous germline mutation in SPAST, p.(Arg499His), which is responsible for hereditary spastic paraplegia with infantile onset.

31698101

2019

dbSNP:

rs312262720

SPG11

0.700

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:

rs750663981

SPG11

0.700

CausalMutation

CLINVAR

dbSNP:

rs61755320

SPG7

0.720

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:

rs61755320

SPG7

0.720

GeneticVariation

CLINVAR

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

23733235

2013

dbSNP:

rs61755320

SPG7

0.720

GeneticVariation

CLINVAR

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

21623769

2011

dbSNP:

rs61755320

SPG7

0.720

GeneticVariation

CLINVAR

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

29057857

2017

dbSNP:

rs61755320

SPG7

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

SPG7

0.720

GeneticVariation

CLINVAR

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

23065789

2012

dbSNP:

rs61755320

SPG7

0.720

GeneticVariation

CLINVAR

Functional evaluation of paraplegin mutations by a yeast complementation assay.

20186691

2010

dbSNP:

rs61755320

SPG7

0.720

GeneticVariation

CLINVAR

Expanded phenotype in a patient with spastic paraplegia 7.

29026558

2017

dbSNP:

rs61755320

SPG7

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

SPG7

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

SPG7

0.720

GeneticVariation

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

SPG7

0.720

GeneticVariation

CLINVAR

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.

28362824

2017

dbSNP:

rs61755320

SPG7

0.720

GeneticVariation

CLINVAR

Clinical and genetic study of hereditary spastic paraplegia in Canada.

27957547

2017

dbSNP:

rs61755320

SPG7

0.720

GeneticVariation

BEFREE

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