DisGeNET - a database of gene-disease associations

Results per page

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:	6657
Gene Symbol:	SOX2

SOX2

CUI:	C0338503
Disease:	Septo-Optic Dysplasia

Septo-Optic Dysplasia

0.410

GeneticVariation

BEFREE

More recently, we have implicated duplications of SOX3 and mutations of both SOX2 and SOX3 in the aetiology of variants of SOD.

2007