DisGeNET - a database of gene-disease associations

Progressive supranuclear palsy, C0038868

Variant: rs746389377 ×

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:

rs746389377

rs746389377

SORBS1

0.010

GeneticVariation

BEFREE

We have identified DCTN1 p.K56R in patients with PSP.

2016