DisGeNET - a database of gene-disease associations

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, C3280283

Variant: rs1064793161 ×

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:

rs1064793161

KIF1A

0.700

CausalMutation

CLINVAR

Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.

27034427

2016

dbSNP:

rs1064793161

KIF1A

0.700

CausalMutation

CLINVAR

De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.

26354034

2015

dbSNP:

rs1064793161

KIF1A

0.700

GeneticVariation

CLINVAR