DisGeNET - a database of gene-disease associations

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, C3280283

Variant: rs672601368 ×

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:

rs672601368

KIF1A

0.800

GeneticVariation

UNIPROT

De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.

25265257

2015

dbSNP:

rs672601368

KIF1A

0.800

GeneticVariation

UNIPROT

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.

26410750

2015

dbSNP:

rs672601368

KIF1A

0.800

GeneticVariation

UNIPROT

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

26125038

2015

dbSNP:

rs672601368

KIF1A

0.800

GeneticVariation

UNIPROT

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

21376300

2011

dbSNP:

rs672601368

KIF1A

0.800

CausalMutation

CLINVAR