DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Aniridia ×

Gene: PAX6 ×

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:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:	Aniridia

Aniridia

1.000

Biomarker

GENOMICS_ENGLAND

Heterozygous defects in PAX6 gene and congenital hypopituitarism.

25342853

2015

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:	Aniridia

Aniridia

1.000

Biomarker

GENOMICS_ENGLAND

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.

17406642

2007

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:	Aniridia

Aniridia

1.000

Biomarker

GENOMICS_ENGLAND

Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.

17148041

2006

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:	Aniridia

Aniridia

1.000

Biomarker

GENOMICS_ENGLAND

Three novel aniridia mutations in the human PAX6 gene.

7550230

1995

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:	Aniridia

Aniridia

1.000

Biomarker

GENOMICS_ENGLAND

Photoreactivation of superoxide dismutase by intensive red (laser) light.

2855731

1988