DisGeNET - a database of gene-disease associations

Hypoplasia of the optic nerve, C0338502

Gene: PAX6 ×

Source: ALL

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

0.400

GermlineCausalMutation

disease

ORPHANET

Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.

2003

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

0.400

Biomarker

disease

HPO