DisGeNET - a database of gene-disease associations

Spastic Paraplegia, C0037772

Variant: rs1555177629 ×

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:

rs1555177629

KIF5A

0.700

CausalMutation

CLINVAR

Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln).

26543653

2015

dbSNP:

rs1555177629

KIF5A

0.700

CausalMutation

CLINVAR

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.

25008398

2014

dbSNP:

rs1555177629

KIF5A

0.700

CausalMutation

CLINVAR

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.

21623771

2012

dbSNP:

rs1555177629

KIF5A

0.700

CausalMutation

CLINVAR

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

18853458

2009