DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1965
Gene Symbol:	EIF2S1

EIF2S1

CUI:	C2751492
Disease:	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED

AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED

0.010

Biomarker

BEFREE

There was a global downregulation of the eIF2 pathway and its associated genes in all symptomatic FAP patients.

2016