DisGeNET - a database of gene-disease associations

ANTERIOR SEGMENT DYSGENESIS 5, C4310809

Variant: rs398123295 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs398123295

PAX6

0.700

CausalMutation

CLINVAR

Assessment of PAX6 alleles in 66 families with aniridia.

26661695

2016

dbSNP:

rs398123295

PAX6

0.700

CausalMutation

CLINVAR

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

12634864

2003

dbSNP:

rs398123295

PAX6

0.700

CausalMutation

CLINVAR

PAX6 mutations in aniridia.

8364574

1993