DisGeNET - a database of gene-disease associations

Nephronophthisis, C0687120

Variant: rs965522059 ×

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:

rs965522059

CEP290

0.700

CausalMutation

CLINVAR

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.

21153841

2011

dbSNP:

rs965522059

CEP290

0.700

CausalMutation

CLINVAR

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

20690115

2010

dbSNP:

rs965522059

CEP290

0.700

CausalMutation

CLINVAR

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.

17617513

2007

dbSNP:

rs965522059

CEP290

0.700

CausalMutation

CLINVAR

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

17345604

2007

dbSNP:

rs965522059

CEP290

0.700

CausalMutation

CLINVAR

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

16909394

2006