DisGeNET - a database of gene-disease associations

Cataract, Congenital Nuclear, Autosomal Recessive 2, C1857853

Variant: rs74315490 ×

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:

rs74315490

CRYBB3

0.800

GeneticVariation

UNIPROT

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

23508780

2013

dbSNP:

rs74315490

CRYBB3

0.800

GeneticVariation

UNIPROT

Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.

15914629

2005

dbSNP:

rs74315490

CRYBB3

0.800

CausalMutation

CLINVAR