DisGeNET - a database of gene-disease associations

KIF5A, kinesin family member 5A, 3798

N. diseases: 112; N. variants: 28

Disease: Spastic paraplegia 10, autosomal dominant ×

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:

rs121434441

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.

21107874

2011

dbSNP:

rs121434442

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.

21107874

2011

dbSNP:

rs121434443

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.

21107874

2011

dbSNP:

rs121434444

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.

21107874

2011

dbSNP:

rs121434441

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

18853458

2009

dbSNP:

rs121434442

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

18853458

2009

dbSNP:

rs121434443

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

18853458

2009

dbSNP:

rs121434444

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

18853458

2009

dbSNP:

rs121434441

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

SPG10 is a rare cause of spastic paraplegia in European families.

18245137

2008

dbSNP:

rs121434441

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.

18203753

2008

dbSNP:

rs121434442

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

SPG10 is a rare cause of spastic paraplegia in European families.

18245137

2008

dbSNP:

rs121434442

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.

18203753

2008

dbSNP:

rs121434443

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

SPG10 is a rare cause of spastic paraplegia in European families.

18245137

2008

dbSNP:

rs121434443

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.

18203753

2008

dbSNP:

rs121434444

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.

18203753

2008

dbSNP:

rs121434444

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

SPG10 is a rare cause of spastic paraplegia in European families.

18245137

2008

dbSNP:

rs121434441

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.

16476820

2006

dbSNP:

rs121434441

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.

16489470

2006

dbSNP:

rs121434442

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.

16476820

2006

dbSNP:

rs121434442

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.

16489470

2006

dbSNP:

rs121434443

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.

16476820

2006

dbSNP:

rs121434443

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.

16489470

2006

dbSNP:

rs121434444

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.

16489470

2006

dbSNP:

rs121434444

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.

16476820

2006

dbSNP:

rs121434441

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia.

15452312

2004