DisGeNET - a database of gene-disease associations

Meckel-Gruber syndrome, C0265215

Variant: rs386834157 ×

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:

rs386834157

CEP290

0.700

CausalMutation

CLINVAR

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

21602930

2011

dbSNP:

rs386834157

CEP290

0.700

CausalMutation

CLINVAR

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

17564974

2007

dbSNP:

rs386834157

CEP290

0.700

CausalMutation

CLINVAR

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

17345604

2007