DisGeNET - a database of gene-disease associations

Nephronophthisis, C0687120

Variant: rs281865192 ×

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:

rs281865192

CEP290

0.700

CausalMutation

CLINVAR

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.

23344081

2012

dbSNP:

rs281865192

CEP290

0.700

CausalMutation

CLINVAR

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

17345604

2007

dbSNP:

rs281865192

CEP290

0.700

CausalMutation

CLINVAR

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.

17964524

2007

dbSNP:

rs281865192

CEP290

0.700

CausalMutation

CLINVAR

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.

16909394

2006