DisGeNET - a database of gene-disease associations

Movement Disorders, C0026650

Variant: rs917027829 ×

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:

rs917027829

CSF1R

0.700

CausalMutation

CLINVAR

Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.

24336230

2014

dbSNP:

rs917027829

CSF1R

0.700

CausalMutation

CLINVAR

CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.

24145216

2013

dbSNP:

rs917027829

CSF1R

0.700

CausalMutation

CLINVAR

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

23649896

2013

dbSNP:

rs917027829

CSF1R

0.700

CausalMutation

CLINVAR

A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.

23816250

2013

dbSNP:

rs917027829

CSF1R

0.700

CausalMutation

CLINVAR

CSF1R mutations link POLD and HDLS as a single disease entity.

23408870

2013

dbSNP:

rs917027829

CSF1R

0.700

CausalMutation

CLINVAR

Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.

23411710

2013

dbSNP:

rs917027829

CSF1R

0.700

CausalMutation

CLINVAR

MRI characteristics and scoring in HDLS due to CSF1R gene mutations.

22843259

2012

dbSNP:

rs917027829

CSF1R

0.700

CausalMutation

CLINVAR

Update of the original HDLS kindred: divergent clinical courses.

22098561

2012

dbSNP:

rs917027829

CSF1R

0.700

CausalMutation

CLINVAR

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

22197934

2011

dbSNP:

rs917027829

CSF1R

0.700

CausalMutation

CLINVAR

Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?

19487654

2009

dbSNP:

rs917027829

CSF1R

0.700

CausalMutation

CLINVAR

Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids.

18794495

2008

dbSNP:

rs917027829

CSF1R

0.700

CausalMutation

CLINVAR

Biology and action of colony--stimulating factor-1.

8981357

1997

dbSNP:

rs917027829

CSF1R

0.700

CausalMutation

CLINVAR

Hereditary diffuse leucoencephalopathy with spheroids.

6595937

1984