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

CausalMutation

CLINVAR

dbSNP:

rs121434442

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

CausalMutation

CLINVAR

dbSNP:

rs121434443

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

CausalMutation

CLINVAR

dbSNP:

rs121434444

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

CausalMutation

CLINVAR

dbSNP:

rs387907285

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

CausalMutation

CLINVAR

dbSNP:

rs387907285

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

dbSNP:

rs387907287

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

dbSNP:

rs387907287

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

CausalMutation

CLINVAR

dbSNP:

rs387907288

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

dbSNP:

rs387907288

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

CausalMutation

CLINVAR

dbSNP:

rs1131692233

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.700

GeneticVariation

CLINVAR

dbSNP:

rs387907289

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.700

CausalMutation

CLINVAR

dbSNP:

rs690016545

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.700

CausalMutation

CLINVAR

dbSNP:

rs121434441

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).

12355402

2002

dbSNP:

rs121434442

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).

12355402

2002

dbSNP:

rs121434443

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).

12355402

2002

dbSNP:

rs121434444

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

CUI:	C1858712
Disease:

Spastic paraplegia 10, autosomal dominant

0.800

GeneticVariation

UNIPROT

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).

12355402

2002

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

dbSNP:

rs121434442

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

dbSNP:

rs121434443

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

dbSNP:

rs121434444

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

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