DisGeNET - a database of gene-disease associations

PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121907927

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

24033328

2014

dbSNP:

rs121907928

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

24033328

2014

dbSNP:

rs121907927

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

Mutation spectrum of PAX6 in Chinese patients with aniridia.

21850189

2011

dbSNP:

rs121907928

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

Mutation spectrum of PAX6 in Chinese patients with aniridia.

21850189

2011

dbSNP:

rs121907927

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.

17595013

2007

dbSNP:

rs121907928

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.

17595013

2007

dbSNP:

rs121907927

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

Molecular analysis of a human PAX6 homeobox mutant.

16493447

2006

dbSNP:

rs121907928

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

Molecular analysis of a human PAX6 homeobox mutant.

16493447

2006

dbSNP:

rs121907925

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0155299
Disease:

Coloboma of optic disc

0.800

GeneticVariation

UNIPROT

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

12721955

2003

dbSNP:

rs121907927

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

Missense mutations in the DNA-binding region and termination codon in PAX6.

12552561

2003

dbSNP:

rs121907927

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.

12634864

2003

dbSNP:

rs121907928

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

Missense mutations in the DNA-binding region and termination codon in PAX6.

12552561

2003

dbSNP:

rs121907928

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.

12634864

2003

dbSNP:

rs121907927

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.

11826019

2002

dbSNP:

rs121907928

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.

11826019

2002

dbSNP:

rs121907927

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.

11553050

2001

dbSNP:

rs121907927

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.

11309364

2001

dbSNP:

rs121907928

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.

11553050

2001

dbSNP:

rs121907928

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.

11309364

2001

dbSNP:

rs121907927

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

Mutation in the PAX6 gene in twenty patients with aniridia.

10737978

2000

dbSNP:

rs121907928

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

Mutation in the PAX6 gene in twenty patients with aniridia.

10737978

2000

dbSNP:

rs121907918

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C3805604
Disease:

FOVEAL HYPOPLASIA 1

0.800

GeneticVariation

UNIPROT

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

9931324

1999

dbSNP:

rs121907927

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

9931324

1999

dbSNP:

rs121907927

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

10234503

1999

dbSNP:

rs121907928

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0003076
Disease:

Aniridia

0.800

GeneticVariation

UNIPROT

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

9931324

1999