DisGeNET - a database of gene-disease associations

rs933476040, TTR

N. diseases: 2

Disease: Carpal Tunnel Syndrome ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Carpal Tunnel Syndrome

CUI:	C0007286
Disease:	Carpal Tunnel Syndrome

0.010

GeneticVariation

BEFREE

A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome.

2016