DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Septo-Optic Dysplasia ×

Gene: HESX1 ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

HESX homeobox 1

0.561

0.654

8.0E-04

CUI:	C0338503
Disease:	Septo-Optic Dysplasia

Septo-Optic Dysplasia

disease

1.000

None

1.000

0

1998

2016