DisGeNET - a database of gene-disease associations

Meckel-Gruber syndrome, C0265215

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:

rs1060499781

CEP290

ACC

0.700

GeneticVariation

CLINVAR

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

17345604

2007

dbSNP:

rs1060499781

CEP290

ACC

0.700

GeneticVariation

CLINVAR

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

16909394

2006

dbSNP:

rs1060499781

CEP290

ACC

0.700

GeneticVariation

CLINVAR

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

20690115

2010

dbSNP:

rs1192112844

CEP290

0.700

GeneticVariation

CLINVAR

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

16909394

2006

dbSNP:

rs1192112844

CEP290

0.700

GeneticVariation

CLINVAR

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

20690115

2010

dbSNP:

rs1192112844

CEP290

0.700

GeneticVariation

CLINVAR

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

17345604

2007

dbSNP:

rs1554556213

TMEM67

ATAA

0.700

GeneticVariation

CLINVAR

dbSNP:

rs201218801

CEP290

0.700

GeneticVariation

CLINVAR

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

16909394

2006

dbSNP:

rs201218801

CEP290

0.700

GeneticVariation

CLINVAR

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

17345604

2007

dbSNP:

rs201218801

CEP290

0.700

GeneticVariation

CLINVAR

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

20690115

2010

dbSNP:

rs368720062

CC2D2A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs369523378

CEP290

0.700

GeneticVariation

CLINVAR

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

20690115

2010

dbSNP:

rs369523378

CEP290

0.700

GeneticVariation

CLINVAR

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

17345604

2007

dbSNP:

rs369523378

CEP290

0.700

GeneticVariation

CLINVAR

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

16909394

2006

dbSNP:

rs375170572

LPO ; MKS1 ; LOC105371841

0.700

GeneticVariation

CLINVAR

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

17397051

2007

dbSNP:

rs386833759

CC2D2A

0.700

GeneticVariation

CLINVAR

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

26092869

2015

dbSNP:

rs386833759

CC2D2A

0.700

GeneticVariation

CLINVAR

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

19466712

2009

dbSNP:

rs386834048

MKS1

0.700

GeneticVariation

CLINVAR

Identification of deleterious synonymous variants in human genomes.

23736532

2013

dbSNP:

rs386834048

MKS1

0.700

GeneticVariation

CLINVAR

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

26092869

2015

dbSNP:

rs386834048

MKS1

0.700

GeneticVariation

CLINVAR

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

17397051

2007

dbSNP:

rs386834048

MKS1

0.700

GeneticVariation

CLINVAR

Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

17377820

2007

dbSNP:

rs386834048

MKS1

0.700

GeneticVariation

CLINVAR

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

17437276

2007

dbSNP:

rs386834180

TMEM67

0.700

GeneticVariation

CLINVAR

dbSNP:

rs397514753

TMEM231

0.700

GeneticVariation

CLINVAR

dbSNP:

rs587777145

CSPP1

0.700

GeneticVariation

CLINVAR