DisGeNET - a database of gene-disease associations

KIF1A, kinesin family member 1A, 547

N. diseases: 187; N. variants: 45

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:

rs672601370

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

0.800

CausalMutation

CLINVAR

Genomic diagnosis for children with intellectual disability and/or developmental delay.

28554332

2017

dbSNP:

rs387906799

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

0.800

GeneticVariation

UNIPROT

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

26125038

2015

dbSNP:

rs387906799

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

0.800

GeneticVariation

UNIPROT

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

26410750

2015

dbSNP:

rs387906799

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

0.800

CausalMutation

CLINVAR

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

26125038

2015

dbSNP:

rs387906799

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

0.800

CausalMutation

CLINVAR

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

25265257

2015

dbSNP:

rs387906799

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

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:

rs672601362

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

0.800

GeneticVariation

UNIPROT

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

26410750

2015

dbSNP:

rs672601362

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

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:

rs672601362

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

0.800

GeneticVariation

UNIPROT

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

26125038

2015

dbSNP:

rs672601363

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

0.800

GeneticVariation

UNIPROT

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

26125038

2015

dbSNP:

rs672601363

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

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:

rs672601363

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

0.800

GeneticVariation

UNIPROT

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

26410750

2015

dbSNP:

rs672601364

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

0.800

GeneticVariation

UNIPROT

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

26125038

2015

dbSNP:

rs672601364

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

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:

rs672601364

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

0.800

GeneticVariation

UNIPROT

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

26410750

2015

dbSNP:

rs672601365

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

0.800

GeneticVariation

UNIPROT

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

26125038

2015

dbSNP:

rs672601365

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

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:

rs672601365

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

0.800

GeneticVariation

UNIPROT

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

26410750

2015

dbSNP:

rs672601366

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

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:

rs672601366

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

0.800

GeneticVariation

UNIPROT

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

26125038

2015

dbSNP:

rs672601366

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

0.800

GeneticVariation

UNIPROT

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

26410750

2015

dbSNP:

rs672601367

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

0.800

GeneticVariation

UNIPROT

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

26125038

2015

dbSNP:

rs672601367

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

0.800

GeneticVariation

UNIPROT

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

26410750

2015

dbSNP:

rs672601367

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

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

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C3280283
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

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