DisGeNET - a database of gene-disease associations

TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36

Disease: Amyotrophic Lateral Sclerosis, Familial ×

Variant: rs80356732 ×

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:

rs80356732

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C4551993
Disease:

Amyotrophic Lateral Sclerosis, Familial

0.010

GeneticVariation

BEFREE

p.N345K mutation in TARDBP in a patient with familial amyotrophic lateral sclerosis: An autopsy case.

31124595

2019