DisGeNET - a database of gene-disease associations

Frontotemporal Dementia With Motor Neuron Disease, C3888102

Variant: rs796051870 ×

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:

rs796051870

SQSTM1

0.700

CausalMutation

CLINVAR

Targeted next-generation sequencing assay for detection of mutations in primary myopathies.

26627873

2016

dbSNP:

rs796051870

SQSTM1

0.700

CausalMutation

CLINVAR

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.

26208961

2015

dbSNP:

rs796051870

SQSTM1

0.700

CausalMutation

CLINVAR

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.

23417734

2013

dbSNP:

rs796051870

SQSTM1

0.700

CausalMutation

CLINVAR

Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.

17129171

2007

dbSNP:

rs796051870

SQSTM1

0.700

CausalMutation

CLINVAR

Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.

12374763

2002